Perspectives

In the United States and around the globe, chronic obstructive pulmonary disease (COPD) remains one of the leading causes of death. In addition to new diagnostic guidelines, the Global Initiative for Chronic Obstructive Lung Disease 2022 Report, or GOLD report, sets forth recommendations for management and treatment. In 2022, a total of 160 new references were added to the previous year’s GOLD report.

According to the GOLD report, initial management of COPD should aim at reducing exposure to risk factors such as smoking or other chemical exposures. In addition to medications, stable COPD patients should be evaluated for inhaler technique, adherence to prescribed therapies, smoking status, and continued exposure to other risk factors. Also, physical activity should be advised and pulmonary rehabilitation should be considered. Spirometry should be performed annually.

These guidelines offer very practical advice but often are difficult to implement in clinical practice. Everyone knows smoking is harmful and quitting provides huge health benefits, not only regarding COPD. However, nicotine is very addictive, and most smokers cannot just quit. Many need smoking cessation aids and counseling. Additionally, some smokers just don’t want to quit. Regarding workplace exposures, it often is not easy for someone just to change their job. Many are afraid to speak because they are afraid of losing their jobs. Everyone, not just patients with COPD, can benefit from increased physical activity, and all doctors know how difficult it is to motivate patients to do this.

The decision to initiate medications should be based on an individual patient’s symptoms and risk of exacerbations. In general, long-acting bronchodilators, including long-acting beta agonists (LABA) and long-acting muscarinic antagonists (LAMA), are preferred except when immediate relief of dyspnea is needed, and then short-acting bronchodilators should be used. Either a single long-acting or dual long-acting bronchodilator can be initiated. If a patient continues to have dyspnea on a single long-acting bronchodilator, treatment should be switched to a dual therapy.

In general, inhaled corticosteroids (ICS) are not recommended for stable COPD patients. If a patient has exacerbations despite appropriate treatment with LABAs, an ICS may be added to the LABA, the GOLD guidelines say. Oral corticosteroids are not recommended for long-term use. PDE4 inhibitors should be considered in patents with severe to very severe airflow obstruction, chronic bronchitis, and exacerbations. Macrolide antibiotics, especially azithromycin, can be considered in acute exacerbations. There is no evidence to support the use of antitussives and mucolytics are advised in only certain patients. Inhaled bronchodilators are advised over oral ones and theophylline is recommended when long-acting bronchodilators are unavailable or unaffordable.

In clinical practice, I see many patients treated based on symptomatology with spirometry testing not being done. This may help control many symptoms, but unless my patient has an accurate diagnosis, I won’t know if my patient is receiving the correct treatment.

It is important to keep in mind that COPD is a progressive disease and without appropriate treatment and monitoring, it will just get worse, and this is most likely to be irreversible.

Medications and treatment goals for patients with COPD

Patients with alpha-1 antitrypsin deficiency may benefit from the addition of alpha-1 antitrypsin augmentation therapy, the new guidelines say. In patients with severe disease experiencing dyspnea, oral and parental opioids can be considered. Medications that are used to treat primary pulmonary hypertension are not advised to treat pulmonary hypertension secondary to COPD.

The treatment goals of COPD should be to decrease severity of symptoms, reduce the occurrence of exacerbations, and improve exercise tolerance. Peripheral eosinophil counts can be used to guide the use of ICS to prevent exacerbations. However, the best predictor of exacerbations is previous exacerbations. Frequent exacerbations are defined as two or more annually. Additionally, deteriorating airflow is correlated with increased risk of exacerbations, hospitalizations, and death. Forced expiratory volume in 1 second (FEV₁) alone lacks precision to predict exacerbations or death.

Vaccines and pulmonary rehabilitation recommended

The Centers for Disease Control and Prevention and World Health Organization recommend several vaccines for stable patients with COPD. Influenza vaccine was shown to reduce serious complications in COPD patients. Pneumococcal vaccines (PCV13 and PPSV23) reduced the likelihood of COPD exacerbations. The COVID-19 vaccine also has been effective at reducing hospitalizations, in particular ICU admissions, and death in patients with COPD. The CDC also recommends TdaP and Zoster vaccines.

An acute exacerbation of COPD occurs when a patient experiences worsening of respiratory symptoms that requires additional treatment, according to the updated GOLD guidelines. They are usually associated with increased airway inflammation, mucous productions, and trapping of gases. They are often triggered by viral infections, but bacterial and environment factors play a role as well. Less commonly, fungi such as Aspergillus can be observed as well. COPD exacerbations contribute to overall progression of the disease.

In patients with hypoxemia, supplemental oxygen should be titrated to a target O₂ saturation of 88%-92%. It is important to follow blood gases to be sure adequate oxygenation is taking place while at the same time avoiding carbon dioxide retention and/or worsening acidosis. In patients with severe exacerbations whose dyspnea does not respond to initial emergency therapy, ICU admission is warranted. Other factors indicating the need for ICU admission include mental status changes, persistent or worsening hypoxemia, severe or worsening respiratory acidosis, the need for mechanical ventilation, and hemodynamic instability. Following an acute exacerbation, steps to prevent further exacerbations should be initiated.

Systemic glucocorticoids are indicated during acute exacerbations. They have been shown to hasten recovery time and improve functioning of the lungs as well as oxygenation. It is recommended to give prednisone 40 mg per day for 5 days. Antibiotics should be used in exacerbations if patients have dyspnea, sputum production, and purulence of the sputum or require mechanical ventilation. The choice of which antibiotic to use should be based on local bacterial resistance.

Pulmonary rehabilitation is an important component of COPD management. It incorporates exercise, education, and self-management aimed to change behavior and improve conditioning. The benefits of rehab have been shown to be considerable. The optimal length is 6-8 weeks. Palliative and end-of-life care are also very important factors to consider when treating COPD patients, according to the GOLD guidelines.

COPD is a very common disease and cause of mortality seen by family physicians. The GOLD report is an extensive document providing very clear guidelines and evidence to support these guidelines in every level of the treatment of COPD patients. As primary care doctors, we are often the first to treat patients with COPD and it is important to know the latest guidelines.

Dr. Girgis practices family medicine in South River, N.J., and is a clinical assistant professor of family medicine at Robert Wood Johnson Medical School, New Brunswick, N.J. You can contact her at [email protected].

In the United States and around the globe, chronic obstructive pulmonary disease (COPD) remains one of the leading causes of death. In addition to new diagnostic guidelines, the Global Initiative for Chronic Obstructive Lung Disease 2022 Report, or GOLD report, sets forth recommendations for management and treatment. In 2022, a total of 160 new references were added to the previous year’s GOLD report.

According to the GOLD report, initial management of COPD should aim at reducing exposure to risk factors such as smoking or other chemical exposures. In addition to medications, stable COPD patients should be evaluated for inhaler technique, adherence to prescribed therapies, smoking status, and continued exposure to other risk factors. Also, physical activity should be advised and pulmonary rehabilitation should be considered. Spirometry should be performed annually.

These guidelines offer very practical advice but often are difficult to implement in clinical practice. Everyone knows smoking is harmful and quitting provides huge health benefits, not only regarding COPD. However, nicotine is very addictive, and most smokers cannot just quit. Many need smoking cessation aids and counseling. Additionally, some smokers just don’t want to quit. Regarding workplace exposures, it often is not easy for someone just to change their job. Many are afraid to speak because they are afraid of losing their jobs. Everyone, not just patients with COPD, can benefit from increased physical activity, and all doctors know how difficult it is to motivate patients to do this.

The decision to initiate medications should be based on an individual patient’s symptoms and risk of exacerbations. In general, long-acting bronchodilators, including long-acting beta agonists (LABA) and long-acting muscarinic antagonists (LAMA), are preferred except when immediate relief of dyspnea is needed, and then short-acting bronchodilators should be used. Either a single long-acting or dual long-acting bronchodilator can be initiated. If a patient continues to have dyspnea on a single long-acting bronchodilator, treatment should be switched to a dual therapy.

In general, inhaled corticosteroids (ICS) are not recommended for stable COPD patients. If a patient has exacerbations despite appropriate treatment with LABAs, an ICS may be added to the LABA, the GOLD guidelines say. Oral corticosteroids are not recommended for long-term use. PDE4 inhibitors should be considered in patents with severe to very severe airflow obstruction, chronic bronchitis, and exacerbations. Macrolide antibiotics, especially azithromycin, can be considered in acute exacerbations. There is no evidence to support the use of antitussives and mucolytics are advised in only certain patients. Inhaled bronchodilators are advised over oral ones and theophylline is recommended when long-acting bronchodilators are unavailable or unaffordable.

In clinical practice, I see many patients treated based on symptomatology with spirometry testing not being done. This may help control many symptoms, but unless my patient has an accurate diagnosis, I won’t know if my patient is receiving the correct treatment.

It is important to keep in mind that COPD is a progressive disease and without appropriate treatment and monitoring, it will just get worse, and this is most likely to be irreversible.

Medications and treatment goals for patients with COPD

Patients with alpha-1 antitrypsin deficiency may benefit from the addition of alpha-1 antitrypsin augmentation therapy, the new guidelines say. In patients with severe disease experiencing dyspnea, oral and parental opioids can be considered. Medications that are used to treat primary pulmonary hypertension are not advised to treat pulmonary hypertension secondary to COPD.

The treatment goals of COPD should be to decrease severity of symptoms, reduce the occurrence of exacerbations, and improve exercise tolerance. Peripheral eosinophil counts can be used to guide the use of ICS to prevent exacerbations. However, the best predictor of exacerbations is previous exacerbations. Frequent exacerbations are defined as two or more annually. Additionally, deteriorating airflow is correlated with increased risk of exacerbations, hospitalizations, and death. Forced expiratory volume in 1 second (FEV₁) alone lacks precision to predict exacerbations or death.

Vaccines and pulmonary rehabilitation recommended

The Centers for Disease Control and Prevention and World Health Organization recommend several vaccines for stable patients with COPD. Influenza vaccine was shown to reduce serious complications in COPD patients. Pneumococcal vaccines (PCV13 and PPSV23) reduced the likelihood of COPD exacerbations. The COVID-19 vaccine also has been effective at reducing hospitalizations, in particular ICU admissions, and death in patients with COPD. The CDC also recommends TdaP and Zoster vaccines.

An acute exacerbation of COPD occurs when a patient experiences worsening of respiratory symptoms that requires additional treatment, according to the updated GOLD guidelines. They are usually associated with increased airway inflammation, mucous productions, and trapping of gases. They are often triggered by viral infections, but bacterial and environment factors play a role as well. Less commonly, fungi such as Aspergillus can be observed as well. COPD exacerbations contribute to overall progression of the disease.

In patients with hypoxemia, supplemental oxygen should be titrated to a target O₂ saturation of 88%-92%. It is important to follow blood gases to be sure adequate oxygenation is taking place while at the same time avoiding carbon dioxide retention and/or worsening acidosis. In patients with severe exacerbations whose dyspnea does not respond to initial emergency therapy, ICU admission is warranted. Other factors indicating the need for ICU admission include mental status changes, persistent or worsening hypoxemia, severe or worsening respiratory acidosis, the need for mechanical ventilation, and hemodynamic instability. Following an acute exacerbation, steps to prevent further exacerbations should be initiated.

Systemic glucocorticoids are indicated during acute exacerbations. They have been shown to hasten recovery time and improve functioning of the lungs as well as oxygenation. It is recommended to give prednisone 40 mg per day for 5 days. Antibiotics should be used in exacerbations if patients have dyspnea, sputum production, and purulence of the sputum or require mechanical ventilation. The choice of which antibiotic to use should be based on local bacterial resistance.

Pulmonary rehabilitation is an important component of COPD management. It incorporates exercise, education, and self-management aimed to change behavior and improve conditioning. The benefits of rehab have been shown to be considerable. The optimal length is 6-8 weeks. Palliative and end-of-life care are also very important factors to consider when treating COPD patients, according to the GOLD guidelines.

COPD is a very common disease and cause of mortality seen by family physicians. The GOLD report is an extensive document providing very clear guidelines and evidence to support these guidelines in every level of the treatment of COPD patients. As primary care doctors, we are often the first to treat patients with COPD and it is important to know the latest guidelines.

Dr. Girgis practices family medicine in South River, N.J., and is a clinical assistant professor of family medicine at Robert Wood Johnson Medical School, New Brunswick, N.J. You can contact her at [email protected].

In the United States and around the globe, chronic obstructive pulmonary disease (COPD) remains one of the leading causes of death. In addition to new diagnostic guidelines, the Global Initiative for Chronic Obstructive Lung Disease 2022 Report, or GOLD report, sets forth recommendations for management and treatment. In 2022, a total of 160 new references were added to the previous year’s GOLD report.

According to the GOLD report, initial management of COPD should aim at reducing exposure to risk factors such as smoking or other chemical exposures. In addition to medications, stable COPD patients should be evaluated for inhaler technique, adherence to prescribed therapies, smoking status, and continued exposure to other risk factors. Also, physical activity should be advised and pulmonary rehabilitation should be considered. Spirometry should be performed annually.

These guidelines offer very practical advice but often are difficult to implement in clinical practice. Everyone knows smoking is harmful and quitting provides huge health benefits, not only regarding COPD. However, nicotine is very addictive, and most smokers cannot just quit. Many need smoking cessation aids and counseling. Additionally, some smokers just don’t want to quit. Regarding workplace exposures, it often is not easy for someone just to change their job. Many are afraid to speak because they are afraid of losing their jobs. Everyone, not just patients with COPD, can benefit from increased physical activity, and all doctors know how difficult it is to motivate patients to do this.

The decision to initiate medications should be based on an individual patient’s symptoms and risk of exacerbations. In general, long-acting bronchodilators, including long-acting beta agonists (LABA) and long-acting muscarinic antagonists (LAMA), are preferred except when immediate relief of dyspnea is needed, and then short-acting bronchodilators should be used. Either a single long-acting or dual long-acting bronchodilator can be initiated. If a patient continues to have dyspnea on a single long-acting bronchodilator, treatment should be switched to a dual therapy.

In general, inhaled corticosteroids (ICS) are not recommended for stable COPD patients. If a patient has exacerbations despite appropriate treatment with LABAs, an ICS may be added to the LABA, the GOLD guidelines say. Oral corticosteroids are not recommended for long-term use. PDE4 inhibitors should be considered in patents with severe to very severe airflow obstruction, chronic bronchitis, and exacerbations. Macrolide antibiotics, especially azithromycin, can be considered in acute exacerbations. There is no evidence to support the use of antitussives and mucolytics are advised in only certain patients. Inhaled bronchodilators are advised over oral ones and theophylline is recommended when long-acting bronchodilators are unavailable or unaffordable.

In clinical practice, I see many patients treated based on symptomatology with spirometry testing not being done. This may help control many symptoms, but unless my patient has an accurate diagnosis, I won’t know if my patient is receiving the correct treatment.

It is important to keep in mind that COPD is a progressive disease and without appropriate treatment and monitoring, it will just get worse, and this is most likely to be irreversible.

Medications and treatment goals for patients with COPD

Patients with alpha-1 antitrypsin deficiency may benefit from the addition of alpha-1 antitrypsin augmentation therapy, the new guidelines say. In patients with severe disease experiencing dyspnea, oral and parental opioids can be considered. Medications that are used to treat primary pulmonary hypertension are not advised to treat pulmonary hypertension secondary to COPD.

The treatment goals of COPD should be to decrease severity of symptoms, reduce the occurrence of exacerbations, and improve exercise tolerance. Peripheral eosinophil counts can be used to guide the use of ICS to prevent exacerbations. However, the best predictor of exacerbations is previous exacerbations. Frequent exacerbations are defined as two or more annually. Additionally, deteriorating airflow is correlated with increased risk of exacerbations, hospitalizations, and death. Forced expiratory volume in 1 second (FEV₁) alone lacks precision to predict exacerbations or death.

Vaccines and pulmonary rehabilitation recommended

The Centers for Disease Control and Prevention and World Health Organization recommend several vaccines for stable patients with COPD. Influenza vaccine was shown to reduce serious complications in COPD patients. Pneumococcal vaccines (PCV13 and PPSV23) reduced the likelihood of COPD exacerbations. The COVID-19 vaccine also has been effective at reducing hospitalizations, in particular ICU admissions, and death in patients with COPD. The CDC also recommends TdaP and Zoster vaccines.

An acute exacerbation of COPD occurs when a patient experiences worsening of respiratory symptoms that requires additional treatment, according to the updated GOLD guidelines. They are usually associated with increased airway inflammation, mucous productions, and trapping of gases. They are often triggered by viral infections, but bacterial and environment factors play a role as well. Less commonly, fungi such as Aspergillus can be observed as well. COPD exacerbations contribute to overall progression of the disease.

In patients with hypoxemia, supplemental oxygen should be titrated to a target O₂ saturation of 88%-92%. It is important to follow blood gases to be sure adequate oxygenation is taking place while at the same time avoiding carbon dioxide retention and/or worsening acidosis. In patients with severe exacerbations whose dyspnea does not respond to initial emergency therapy, ICU admission is warranted. Other factors indicating the need for ICU admission include mental status changes, persistent or worsening hypoxemia, severe or worsening respiratory acidosis, the need for mechanical ventilation, and hemodynamic instability. Following an acute exacerbation, steps to prevent further exacerbations should be initiated.

Systemic glucocorticoids are indicated during acute exacerbations. They have been shown to hasten recovery time and improve functioning of the lungs as well as oxygenation. It is recommended to give prednisone 40 mg per day for 5 days. Antibiotics should be used in exacerbations if patients have dyspnea, sputum production, and purulence of the sputum or require mechanical ventilation. The choice of which antibiotic to use should be based on local bacterial resistance.

Pulmonary rehabilitation is an important component of COPD management. It incorporates exercise, education, and self-management aimed to change behavior and improve conditioning. The benefits of rehab have been shown to be considerable. The optimal length is 6-8 weeks. Palliative and end-of-life care are also very important factors to consider when treating COPD patients, according to the GOLD guidelines.

COPD is a very common disease and cause of mortality seen by family physicians. The GOLD report is an extensive document providing very clear guidelines and evidence to support these guidelines in every level of the treatment of COPD patients. As primary care doctors, we are often the first to treat patients with COPD and it is important to know the latest guidelines.

Dr. Girgis practices family medicine in South River, N.J., and is a clinical assistant professor of family medicine at Robert Wood Johnson Medical School, New Brunswick, N.J. You can contact her at [email protected].

Historically, the role of genetic testing has been to identify familial cancer syndromes and initiate cascade testing. If a germline pathogenic variant is found in an individual, cascade testing involves genetic counseling and testing of blood relatives, starting with those closest in relation to the proband, to identify other family members at high hereditary cancer risk. Once testing identifies those family members at higher cancer risk, these individuals can be referred for risk-reducing procedures. They can undergo screening tests starting at an earlier age and/or increased frequency to help prevent invasive cancer or diagnose it at an earlier stage.

Genetic testing can also inform prognosis. While women with a BRCA1 or BRCA2 mutation are at higher risk of developing ovarian cancer compared with the baseline population, the presence of a germline BRCA mutation has been shown to confer improved survival compared with no BRCA mutation (BRCA wild type). However, more recent data have shown that when long-term survival was analyzed, the prognostic benefit seen in patients with a germline BRCA mutation was lost. The initial survival advantage seen in this population may be related to increased sensitivity to treatment. There appears to be improved response to platinum therapy, which is the standard of care for upfront treatment, in germline BRCA mutation carriers.

Most recently, genetic testing has been used to guide treatment decisions in gynecologic cancers. In 2014, the first poly ADP-ribose polymerase (PARP) inhibitor, olaparib, received Food and Drug Administration approval for the treatment of recurrent ovarian cancer in the presence of a germline BRCA mutation. Now there are multiple PARP inhibitors that have FDA approval for ovarian cancer treatment, some as frontline treatment.

Previous data indicate that 13%-18% of women with ovarian cancer have a germline BRCA mutation that places them at increased risk of hereditary ovarian cancer.¹ Current guidelines from the American Society of Clinical Oncology, the U.S. Preventive Services Task Force, the National Comprehensive Cancer Network, the Society of Gynecologic Oncology (SGO), and the American College of Obstetricians and Gynecologists recommend universal genetic counseling and testing for patients diagnosed with epithelial ovarian cancer. Despite these guidelines, rates of referral for genetic counseling and completion of genetic testing are low.

There has been improvement for both referrals and testing since the publication of the 2014 SGO clinical practice statement on genetic testing for ovarian cancer patients, which recommended that all women, even those without any significant family history, should receive genetic counseling and be offered genetic testing.² When including only studies that collected data after the publication of the 2014 SGO clinical practice statement on genetic testing, a recent systematic review found that 64% of patients were referred for genetic counseling and 63% underwent testing.³

Clinical interventions to target genetic evaluation appear to improve uptake of both counseling and testing. These interventions include using telemedicine to deliver genetic counseling services, mainstreaming (counseling and testing are provided in an oncology clinic by nongenetics specialists), having a genetic counselor within the clinic, and performing reflex testing. With limited numbers of genetic counselors (and even further limited numbers of cancer-specific genetic counselors),⁴ referral for genetic counseling before testing is often challenging and may not be feasible. There is continued need for strategies to help overcome the barrier to accessing genetic counseling.

While the data are limited, there appear to be significant disparities in rates of genetic testing. Genetic counseling and testing were completed by White (43% and 40%) patients more frequently than by either Black (24% and 26%) or Asian (23% and 14%) patients.⁴ Uninsured patients were about half as likely (23% vs. 47%) to complete genetic testing as were those with private insurance.⁴

Genetic testing is an important tool to help identify individuals and families at risk of having hereditary cancer syndromes. This identification allows us to prevent many cancers and identify others while still early stage, significantly decreasing the health care and financial burden on our society and improving outcomes for patients. While we have seen improvement in rates of referral for genetic counseling and testing, we are still falling short. Given the shortage of genetic counselors, it is imperative that we find solutions to ensure continued and improved access to genetic testing for our patients.
 

Dr. Tucker is assistant professor of gynecologic oncology at the University of North Carolina at Chapel Hill.

References

1. Norquist BM et al. JAMA Oncol. 2016;2(4):482-90.

2. SGO Clinical Practice Statement. 2014 Oct 1.

3. Lin J et al. Gynecol Oncol. 2021;162(2):506-16.

4. American Society of Clinical Oncology. J Oncol Pract. 2016 Apr;12(4):339-83.

Historically, the role of genetic testing has been to identify familial cancer syndromes and initiate cascade testing. If a germline pathogenic variant is found in an individual, cascade testing involves genetic counseling and testing of blood relatives, starting with those closest in relation to the proband, to identify other family members at high hereditary cancer risk. Once testing identifies those family members at higher cancer risk, these individuals can be referred for risk-reducing procedures. They can undergo screening tests starting at an earlier age and/or increased frequency to help prevent invasive cancer or diagnose it at an earlier stage.

Genetic testing can also inform prognosis. While women with a BRCA1 or BRCA2 mutation are at higher risk of developing ovarian cancer compared with the baseline population, the presence of a germline BRCA mutation has been shown to confer improved survival compared with no BRCA mutation (BRCA wild type). However, more recent data have shown that when long-term survival was analyzed, the prognostic benefit seen in patients with a germline BRCA mutation was lost. The initial survival advantage seen in this population may be related to increased sensitivity to treatment. There appears to be improved response to platinum therapy, which is the standard of care for upfront treatment, in germline BRCA mutation carriers.

Most recently, genetic testing has been used to guide treatment decisions in gynecologic cancers. In 2014, the first poly ADP-ribose polymerase (PARP) inhibitor, olaparib, received Food and Drug Administration approval for the treatment of recurrent ovarian cancer in the presence of a germline BRCA mutation. Now there are multiple PARP inhibitors that have FDA approval for ovarian cancer treatment, some as frontline treatment.

Previous data indicate that 13%-18% of women with ovarian cancer have a germline BRCA mutation that places them at increased risk of hereditary ovarian cancer.¹ Current guidelines from the American Society of Clinical Oncology, the U.S. Preventive Services Task Force, the National Comprehensive Cancer Network, the Society of Gynecologic Oncology (SGO), and the American College of Obstetricians and Gynecologists recommend universal genetic counseling and testing for patients diagnosed with epithelial ovarian cancer. Despite these guidelines, rates of referral for genetic counseling and completion of genetic testing are low.

There has been improvement for both referrals and testing since the publication of the 2014 SGO clinical practice statement on genetic testing for ovarian cancer patients, which recommended that all women, even those without any significant family history, should receive genetic counseling and be offered genetic testing.² When including only studies that collected data after the publication of the 2014 SGO clinical practice statement on genetic testing, a recent systematic review found that 64% of patients were referred for genetic counseling and 63% underwent testing.³

Clinical interventions to target genetic evaluation appear to improve uptake of both counseling and testing. These interventions include using telemedicine to deliver genetic counseling services, mainstreaming (counseling and testing are provided in an oncology clinic by nongenetics specialists), having a genetic counselor within the clinic, and performing reflex testing. With limited numbers of genetic counselors (and even further limited numbers of cancer-specific genetic counselors),⁴ referral for genetic counseling before testing is often challenging and may not be feasible. There is continued need for strategies to help overcome the barrier to accessing genetic counseling.

While the data are limited, there appear to be significant disparities in rates of genetic testing. Genetic counseling and testing were completed by White (43% and 40%) patients more frequently than by either Black (24% and 26%) or Asian (23% and 14%) patients.⁴ Uninsured patients were about half as likely (23% vs. 47%) to complete genetic testing as were those with private insurance.⁴

Genetic testing is an important tool to help identify individuals and families at risk of having hereditary cancer syndromes. This identification allows us to prevent many cancers and identify others while still early stage, significantly decreasing the health care and financial burden on our society and improving outcomes for patients. While we have seen improvement in rates of referral for genetic counseling and testing, we are still falling short. Given the shortage of genetic counselors, it is imperative that we find solutions to ensure continued and improved access to genetic testing for our patients.
 

Dr. Tucker is assistant professor of gynecologic oncology at the University of North Carolina at Chapel Hill.

References

1. Norquist BM et al. JAMA Oncol. 2016;2(4):482-90.

2. SGO Clinical Practice Statement. 2014 Oct 1.

3. Lin J et al. Gynecol Oncol. 2021;162(2):506-16.

4. American Society of Clinical Oncology. J Oncol Pract. 2016 Apr;12(4):339-83.

Historically, the role of genetic testing has been to identify familial cancer syndromes and initiate cascade testing. If a germline pathogenic variant is found in an individual, cascade testing involves genetic counseling and testing of blood relatives, starting with those closest in relation to the proband, to identify other family members at high hereditary cancer risk. Once testing identifies those family members at higher cancer risk, these individuals can be referred for risk-reducing procedures. They can undergo screening tests starting at an earlier age and/or increased frequency to help prevent invasive cancer or diagnose it at an earlier stage.

Genetic testing can also inform prognosis. While women with a BRCA1 or BRCA2 mutation are at higher risk of developing ovarian cancer compared with the baseline population, the presence of a germline BRCA mutation has been shown to confer improved survival compared with no BRCA mutation (BRCA wild type). However, more recent data have shown that when long-term survival was analyzed, the prognostic benefit seen in patients with a germline BRCA mutation was lost. The initial survival advantage seen in this population may be related to increased sensitivity to treatment. There appears to be improved response to platinum therapy, which is the standard of care for upfront treatment, in germline BRCA mutation carriers.

Most recently, genetic testing has been used to guide treatment decisions in gynecologic cancers. In 2014, the first poly ADP-ribose polymerase (PARP) inhibitor, olaparib, received Food and Drug Administration approval for the treatment of recurrent ovarian cancer in the presence of a germline BRCA mutation. Now there are multiple PARP inhibitors that have FDA approval for ovarian cancer treatment, some as frontline treatment.

Previous data indicate that 13%-18% of women with ovarian cancer have a germline BRCA mutation that places them at increased risk of hereditary ovarian cancer.¹ Current guidelines from the American Society of Clinical Oncology, the U.S. Preventive Services Task Force, the National Comprehensive Cancer Network, the Society of Gynecologic Oncology (SGO), and the American College of Obstetricians and Gynecologists recommend universal genetic counseling and testing for patients diagnosed with epithelial ovarian cancer. Despite these guidelines, rates of referral for genetic counseling and completion of genetic testing are low.

There has been improvement for both referrals and testing since the publication of the 2014 SGO clinical practice statement on genetic testing for ovarian cancer patients, which recommended that all women, even those without any significant family history, should receive genetic counseling and be offered genetic testing.² When including only studies that collected data after the publication of the 2014 SGO clinical practice statement on genetic testing, a recent systematic review found that 64% of patients were referred for genetic counseling and 63% underwent testing.³

Clinical interventions to target genetic evaluation appear to improve uptake of both counseling and testing. These interventions include using telemedicine to deliver genetic counseling services, mainstreaming (counseling and testing are provided in an oncology clinic by nongenetics specialists), having a genetic counselor within the clinic, and performing reflex testing. With limited numbers of genetic counselors (and even further limited numbers of cancer-specific genetic counselors),⁴ referral for genetic counseling before testing is often challenging and may not be feasible. There is continued need for strategies to help overcome the barrier to accessing genetic counseling.

While the data are limited, there appear to be significant disparities in rates of genetic testing. Genetic counseling and testing were completed by White (43% and 40%) patients more frequently than by either Black (24% and 26%) or Asian (23% and 14%) patients.⁴ Uninsured patients were about half as likely (23% vs. 47%) to complete genetic testing as were those with private insurance.⁴

Genetic testing is an important tool to help identify individuals and families at risk of having hereditary cancer syndromes. This identification allows us to prevent many cancers and identify others while still early stage, significantly decreasing the health care and financial burden on our society and improving outcomes for patients. While we have seen improvement in rates of referral for genetic counseling and testing, we are still falling short. Given the shortage of genetic counselors, it is imperative that we find solutions to ensure continued and improved access to genetic testing for our patients.
 

Dr. Tucker is assistant professor of gynecologic oncology at the University of North Carolina at Chapel Hill.

References

1. Norquist BM et al. JAMA Oncol. 2016;2(4):482-90.

2. SGO Clinical Practice Statement. 2014 Oct 1.

3. Lin J et al. Gynecol Oncol. 2021;162(2):506-16.

4. American Society of Clinical Oncology. J Oncol Pract. 2016 Apr;12(4):339-83.

The road to hell is paved with good intentions – especially true in clinical research. A Food and Drug Administration press release notes, “Historically, children were not included in clinical trials because of a misperception that excluding them from research was in fact protecting them. This resulted in many FDA-approved, licensed, cleared, or authorized drugs, biological products, and medical devices lacking pediatric-specific labeling information.” In an effort to improve on this situation, the FDA published in September 2022 a proposed new draft guidance on performing research with children that is open for public comment for 3 months.

Dr. Powell is a retired pediatric hospitalist and clinical ethics consultant living in St. Louis. Email him at [email protected].

The road to hell is paved with good intentions – especially true in clinical research. A Food and Drug Administration press release notes, “Historically, children were not included in clinical trials because of a misperception that excluding them from research was in fact protecting them. This resulted in many FDA-approved, licensed, cleared, or authorized drugs, biological products, and medical devices lacking pediatric-specific labeling information.” In an effort to improve on this situation, the FDA published in September 2022 a proposed new draft guidance on performing research with children that is open for public comment for 3 months.

Dr. Powell is a retired pediatric hospitalist and clinical ethics consultant living in St. Louis. Email him at [email protected].

The road to hell is paved with good intentions – especially true in clinical research. A Food and Drug Administration press release notes, “Historically, children were not included in clinical trials because of a misperception that excluding them from research was in fact protecting them. This resulted in many FDA-approved, licensed, cleared, or authorized drugs, biological products, and medical devices lacking pediatric-specific labeling information.” In an effort to improve on this situation, the FDA published in September 2022 a proposed new draft guidance on performing research with children that is open for public comment for 3 months.

Dr. Powell is a retired pediatric hospitalist and clinical ethics consultant living in St. Louis. Email him at [email protected].

Welcome to Impact Factor, your weekly dose of commentary on a new medical study. I’m Dr. F. Perry Wilson of the Yale School of Medicine.

One of the more baffling decisions the CDC made during this pandemic was when they reduced the duration of isolation after a positive COVID test from 10 days to 5 days and did not require a negative antigen test to end isolation.

F. Perry Wilson, MD, MSCE, is an associate professor of medicine and director of Yale’s Clinical and Translational Research Accelerator. His science communication work can be found in the Huffington Post, on NPR, and on Medscape. He tweets @fperrywilson and hosts a repository of his communication work at www.methodsman.com. He disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Welcome to Impact Factor, your weekly dose of commentary on a new medical study. I’m Dr. F. Perry Wilson of the Yale School of Medicine.

One of the more baffling decisions the CDC made during this pandemic was when they reduced the duration of isolation after a positive COVID test from 10 days to 5 days and did not require a negative antigen test to end isolation.

F. Perry Wilson, MD, MSCE, is an associate professor of medicine and director of Yale’s Clinical and Translational Research Accelerator. His science communication work can be found in the Huffington Post, on NPR, and on Medscape. He tweets @fperrywilson and hosts a repository of his communication work at www.methodsman.com. He disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Welcome to Impact Factor, your weekly dose of commentary on a new medical study. I’m Dr. F. Perry Wilson of the Yale School of Medicine.

One of the more baffling decisions the CDC made during this pandemic was when they reduced the duration of isolation after a positive COVID test from 10 days to 5 days and did not require a negative antigen test to end isolation.

F. Perry Wilson, MD, MSCE, is an associate professor of medicine and director of Yale’s Clinical and Translational Research Accelerator. His science communication work can be found in the Huffington Post, on NPR, and on Medscape. He tweets @fperrywilson and hosts a repository of his communication work at www.methodsman.com. He disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

It is assumed that psychiatrists in general, but particularly in academia, are progressive liberals. There is evidence to support this idea, with a survey finding that more than three-quarters of U.S. psychiatrists are registered Democrats.¹

Other corroborating factors to our field’s progressive tendency include the publication of pseudo-political books like “The Dangerous Case of Donald Trump: 27 Psychiatrists and Mental Health Experts Assess a President” – without a well-known equivalent on the other side.

Additionally, psychiatry has in the recent past, rightfully spent significant effort examining the disproportional trauma faced by patients with underprivileged backgrounds, which is often seen as a political position. The American Psychiatric Association has itself taken a stance on the national debate about abortion to warn against the psychiatric consequences of the Dobbs v. Jackson Supreme Court decision despite the clear political statement it makes.

We understand a likely rationale for psychiatry’s liberal tendency. Most psychiatrists support political objectives that provide resources for the treatment of the severely mentally ill. In general, the psychosocial consequences of mental illness place a downward economic pressure on our patients that leads to poverty and its associated traumas that then tend to feedback to worsen the severity of the illness itself. It is thus natural for psychiatry to promote political causes such as progressivism that focus on the needs of economically and socially struggling communities. If one posits a natural role for psychiatry in promoting the interests of patients, then it is a short leap to psychiatry promoting the political causes of the underprivileged, often in the form of endorsing the Democratic party.

As a result, a proportion of patients come into psychiatric treatment with expectations that their providers will negatively judge them and possibly punish their conservative beliefs or Republican political affiliation. Herein lies a question – “Is psychiatry willing to make 46.9% of Americans uncomfortable?” How should psychiatry address the 46.9% of Americans who voted Republican during the 2020 presidential election? In our desire to support the disadvantaged, how political are we willing to get and at what cost? While we cannot speak for the field as a whole, it is our concern that a vast percentage of Americans feel alienated from talking to us, which is particularly problematic in a field based on mutual trust and understanding.

Dr. Lehman is a professor of psychiatry at the University of California, San Diego. He is codirector of all acute and intensive psychiatric treatment at the Veterans Affairs Medical Center in San Diego, where he practices clinical psychiatry. He has no conflicts of interest. Dr. Badre is a clinical and forensic psychiatrist in San Diego. He holds teaching positions at the University of California, San Diego, and the University of San Diego. He teaches medical education, psychopharmacology, ethics in psychiatry, and correctional care. Dr. Badre can be reached at his website, BadreMD.com. He has no conflicts of interest.

References

1. Sanger-Katz M. Your surgeon is probably a Republican, your psychiatrist probably a Democrat. New York Times. 2016 Oct 6.

2. Ba B et al. Who are the police? Descriptive representation in the coercive arm of government. 2022 Mar 21.

3. Rainey J. Union leader tells Republican convention why cops back Trump. Los Angeles Times. 2020 Aug 26.

4. Igielnik R et al. Trump draws stronger support from veterans than from the public on leadership of U.S. military. Pew Research Center. 2019 July 10.

It is assumed that psychiatrists in general, but particularly in academia, are progressive liberals. There is evidence to support this idea, with a survey finding that more than three-quarters of U.S. psychiatrists are registered Democrats.¹

Other corroborating factors to our field’s progressive tendency include the publication of pseudo-political books like “The Dangerous Case of Donald Trump: 27 Psychiatrists and Mental Health Experts Assess a President” – without a well-known equivalent on the other side.

Additionally, psychiatry has in the recent past, rightfully spent significant effort examining the disproportional trauma faced by patients with underprivileged backgrounds, which is often seen as a political position. The American Psychiatric Association has itself taken a stance on the national debate about abortion to warn against the psychiatric consequences of the Dobbs v. Jackson Supreme Court decision despite the clear political statement it makes.

We understand a likely rationale for psychiatry’s liberal tendency. Most psychiatrists support political objectives that provide resources for the treatment of the severely mentally ill. In general, the psychosocial consequences of mental illness place a downward economic pressure on our patients that leads to poverty and its associated traumas that then tend to feedback to worsen the severity of the illness itself. It is thus natural for psychiatry to promote political causes such as progressivism that focus on the needs of economically and socially struggling communities. If one posits a natural role for psychiatry in promoting the interests of patients, then it is a short leap to psychiatry promoting the political causes of the underprivileged, often in the form of endorsing the Democratic party.

As a result, a proportion of patients come into psychiatric treatment with expectations that their providers will negatively judge them and possibly punish their conservative beliefs or Republican political affiliation. Herein lies a question – “Is psychiatry willing to make 46.9% of Americans uncomfortable?” How should psychiatry address the 46.9% of Americans who voted Republican during the 2020 presidential election? In our desire to support the disadvantaged, how political are we willing to get and at what cost? While we cannot speak for the field as a whole, it is our concern that a vast percentage of Americans feel alienated from talking to us, which is particularly problematic in a field based on mutual trust and understanding.

Dr. Lehman is a professor of psychiatry at the University of California, San Diego. He is codirector of all acute and intensive psychiatric treatment at the Veterans Affairs Medical Center in San Diego, where he practices clinical psychiatry. He has no conflicts of interest. Dr. Badre is a clinical and forensic psychiatrist in San Diego. He holds teaching positions at the University of California, San Diego, and the University of San Diego. He teaches medical education, psychopharmacology, ethics in psychiatry, and correctional care. Dr. Badre can be reached at his website, BadreMD.com. He has no conflicts of interest.

References

1. Sanger-Katz M. Your surgeon is probably a Republican, your psychiatrist probably a Democrat. New York Times. 2016 Oct 6.

2. Ba B et al. Who are the police? Descriptive representation in the coercive arm of government. 2022 Mar 21.

3. Rainey J. Union leader tells Republican convention why cops back Trump. Los Angeles Times. 2020 Aug 26.

4. Igielnik R et al. Trump draws stronger support from veterans than from the public on leadership of U.S. military. Pew Research Center. 2019 July 10.

It is assumed that psychiatrists in general, but particularly in academia, are progressive liberals. There is evidence to support this idea, with a survey finding that more than three-quarters of U.S. psychiatrists are registered Democrats.¹

Other corroborating factors to our field’s progressive tendency include the publication of pseudo-political books like “The Dangerous Case of Donald Trump: 27 Psychiatrists and Mental Health Experts Assess a President” – without a well-known equivalent on the other side.

Additionally, psychiatry has in the recent past, rightfully spent significant effort examining the disproportional trauma faced by patients with underprivileged backgrounds, which is often seen as a political position. The American Psychiatric Association has itself taken a stance on the national debate about abortion to warn against the psychiatric consequences of the Dobbs v. Jackson Supreme Court decision despite the clear political statement it makes.

We understand a likely rationale for psychiatry’s liberal tendency. Most psychiatrists support political objectives that provide resources for the treatment of the severely mentally ill. In general, the psychosocial consequences of mental illness place a downward economic pressure on our patients that leads to poverty and its associated traumas that then tend to feedback to worsen the severity of the illness itself. It is thus natural for psychiatry to promote political causes such as progressivism that focus on the needs of economically and socially struggling communities. If one posits a natural role for psychiatry in promoting the interests of patients, then it is a short leap to psychiatry promoting the political causes of the underprivileged, often in the form of endorsing the Democratic party.

As a result, a proportion of patients come into psychiatric treatment with expectations that their providers will negatively judge them and possibly punish their conservative beliefs or Republican political affiliation. Herein lies a question – “Is psychiatry willing to make 46.9% of Americans uncomfortable?” How should psychiatry address the 46.9% of Americans who voted Republican during the 2020 presidential election? In our desire to support the disadvantaged, how political are we willing to get and at what cost? While we cannot speak for the field as a whole, it is our concern that a vast percentage of Americans feel alienated from talking to us, which is particularly problematic in a field based on mutual trust and understanding.

Dr. Lehman is a professor of psychiatry at the University of California, San Diego. He is codirector of all acute and intensive psychiatric treatment at the Veterans Affairs Medical Center in San Diego, where he practices clinical psychiatry. He has no conflicts of interest. Dr. Badre is a clinical and forensic psychiatrist in San Diego. He holds teaching positions at the University of California, San Diego, and the University of San Diego. He teaches medical education, psychopharmacology, ethics in psychiatry, and correctional care. Dr. Badre can be reached at his website, BadreMD.com. He has no conflicts of interest.

References

1. Sanger-Katz M. Your surgeon is probably a Republican, your psychiatrist probably a Democrat. New York Times. 2016 Oct 6.

2. Ba B et al. Who are the police? Descriptive representation in the coercive arm of government. 2022 Mar 21.

3. Rainey J. Union leader tells Republican convention why cops back Trump. Los Angeles Times. 2020 Aug 26.

4. Igielnik R et al. Trump draws stronger support from veterans than from the public on leadership of U.S. military. Pew Research Center. 2019 July 10.

A biopsy of the lesion was performed that showed a well-defined nodulocystic tumor composed of nests of basaloid cells that are undergoing trichilemmal keratinization. Shadow cells are seen as well as small areas of calcification. There is also a histiocytic infiltrate with multinucleated giant cells. The histologic diagnosis is of a pilomatrixoma.

Pilomatrixoma, also known as calcifying epithelioma of Malherbe, was first described in 1880, as a tumor of sebaceous gland origin. Later, in 1961, Robert Forbis Jr, MD, and Elson B. Helwig, MD, coined the term pilomatrixoma to describe the hair follicle matrix as the source of the tumor. Pilomatrixomas are commonly seen in the pediatric population, usually in children between 8 and 13 years of age. Our patient is one of the youngest described. The lesions are commonly seen on the face and neck in about 70% of the cases followed by the upper extremities, back, and legs. Clinically, the lesions appear as a firm dermal papule or nodule, which moves freely and may have associated erythema on the skin surface or a blueish gray hue on the underlying skin.

Most pilomatrixomas that have been studied have shown a mutation in Exon 3 of the beta-catenin gene (CTNNB1). The beta-catenin molecule is a subunit of the cadherin protein, which is part of an important pathway in the terminal hair follicle differentiation. Beta-catenin also plays an important role in the Wnt pathway, which regulates cell fate as well as early embryonic patterning. Beta-catenin is responsible for forming adhesion junctions among cells. There have also been immunohistochemical studies that have shown a BCL2 proto-oncogene overexpression to pilomatrixoma.

There are several genetic syndromes that have been associated with the presence of pilomatrixomas: Turner syndrome (XO chromosome abnormality associated with short stature and cardiac defects), Gardner syndrome (polyposis coli and colon and rectal cancer), myotonic dystrophy, Rubinstein-Taybi syndrome (characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability), and trisomy 9. On physical examination our patient didn’t present with any of the typical features or history that could suggest any of these syndromes. A close follow-up and evaluation by a geneticist was recommended because after the initial visit she developed a second lesion on the forehead.

The differential diagnosis for this lesion includes other cysts that may occur on the ear such as epidermal inclusion cyst or dermoid cysts, though these lesions do not tend to be as firm as pilomatrixomas are, which can help with the diagnosis. Dermoid cysts are made of dermal and epidermal components. They are usually present at birth and are commonly seen on the scalp and the periorbital face.

Keloids are rubbery nodules of scar tissue that can form on sites of trauma, and although the lesion occurred after she had her ears pierced, the consistency and rapid growth of the lesion as well as the pathological description made this benign fibrous growth less likely.

When pilomatrixomas are inflamed they can be confused with vascular growths: in this particular case, a hemangioma or another vascular tumor such as a tufted angioma or kaposiform hemangioendothelioma. An ultrasound of the lesion could have helped in the differential diagnosis of the lesion.

Pilomatrixomas can grow significantly and in some cases get inflamed or infected. Surgical management of pilomatrixomas is often required because the lesions do not regress spontaneously.

Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.
 

References

Forbis R Jr and Helwig EB. Arch Dermatol 1961;83:606-18.

Schwarz Y et al. Int J Pediatr Otorhinolaryngol. 2016 Jun;85:148-53.

A biopsy of the lesion was performed that showed a well-defined nodulocystic tumor composed of nests of basaloid cells that are undergoing trichilemmal keratinization. Shadow cells are seen as well as small areas of calcification. There is also a histiocytic infiltrate with multinucleated giant cells. The histologic diagnosis is of a pilomatrixoma.

Pilomatrixoma, also known as calcifying epithelioma of Malherbe, was first described in 1880, as a tumor of sebaceous gland origin. Later, in 1961, Robert Forbis Jr, MD, and Elson B. Helwig, MD, coined the term pilomatrixoma to describe the hair follicle matrix as the source of the tumor. Pilomatrixomas are commonly seen in the pediatric population, usually in children between 8 and 13 years of age. Our patient is one of the youngest described. The lesions are commonly seen on the face and neck in about 70% of the cases followed by the upper extremities, back, and legs. Clinically, the lesions appear as a firm dermal papule or nodule, which moves freely and may have associated erythema on the skin surface or a blueish gray hue on the underlying skin.

Most pilomatrixomas that have been studied have shown a mutation in Exon 3 of the beta-catenin gene (CTNNB1). The beta-catenin molecule is a subunit of the cadherin protein, which is part of an important pathway in the terminal hair follicle differentiation. Beta-catenin also plays an important role in the Wnt pathway, which regulates cell fate as well as early embryonic patterning. Beta-catenin is responsible for forming adhesion junctions among cells. There have also been immunohistochemical studies that have shown a BCL2 proto-oncogene overexpression to pilomatrixoma.

There are several genetic syndromes that have been associated with the presence of pilomatrixomas: Turner syndrome (XO chromosome abnormality associated with short stature and cardiac defects), Gardner syndrome (polyposis coli and colon and rectal cancer), myotonic dystrophy, Rubinstein-Taybi syndrome (characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability), and trisomy 9. On physical examination our patient didn’t present with any of the typical features or history that could suggest any of these syndromes. A close follow-up and evaluation by a geneticist was recommended because after the initial visit she developed a second lesion on the forehead.

The differential diagnosis for this lesion includes other cysts that may occur on the ear such as epidermal inclusion cyst or dermoid cysts, though these lesions do not tend to be as firm as pilomatrixomas are, which can help with the diagnosis. Dermoid cysts are made of dermal and epidermal components. They are usually present at birth and are commonly seen on the scalp and the periorbital face.

Keloids are rubbery nodules of scar tissue that can form on sites of trauma, and although the lesion occurred after she had her ears pierced, the consistency and rapid growth of the lesion as well as the pathological description made this benign fibrous growth less likely.

When pilomatrixomas are inflamed they can be confused with vascular growths: in this particular case, a hemangioma or another vascular tumor such as a tufted angioma or kaposiform hemangioendothelioma. An ultrasound of the lesion could have helped in the differential diagnosis of the lesion.

Pilomatrixomas can grow significantly and in some cases get inflamed or infected. Surgical management of pilomatrixomas is often required because the lesions do not regress spontaneously.

Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.
 

References

Forbis R Jr and Helwig EB. Arch Dermatol 1961;83:606-18.

Schwarz Y et al. Int J Pediatr Otorhinolaryngol. 2016 Jun;85:148-53.

A biopsy of the lesion was performed that showed a well-defined nodulocystic tumor composed of nests of basaloid cells that are undergoing trichilemmal keratinization. Shadow cells are seen as well as small areas of calcification. There is also a histiocytic infiltrate with multinucleated giant cells. The histologic diagnosis is of a pilomatrixoma.

Pilomatrixoma, also known as calcifying epithelioma of Malherbe, was first described in 1880, as a tumor of sebaceous gland origin. Later, in 1961, Robert Forbis Jr, MD, and Elson B. Helwig, MD, coined the term pilomatrixoma to describe the hair follicle matrix as the source of the tumor. Pilomatrixomas are commonly seen in the pediatric population, usually in children between 8 and 13 years of age. Our patient is one of the youngest described. The lesions are commonly seen on the face and neck in about 70% of the cases followed by the upper extremities, back, and legs. Clinically, the lesions appear as a firm dermal papule or nodule, which moves freely and may have associated erythema on the skin surface or a blueish gray hue on the underlying skin.

Most pilomatrixomas that have been studied have shown a mutation in Exon 3 of the beta-catenin gene (CTNNB1). The beta-catenin molecule is a subunit of the cadherin protein, which is part of an important pathway in the terminal hair follicle differentiation. Beta-catenin also plays an important role in the Wnt pathway, which regulates cell fate as well as early embryonic patterning. Beta-catenin is responsible for forming adhesion junctions among cells. There have also been immunohistochemical studies that have shown a BCL2 proto-oncogene overexpression to pilomatrixoma.

There are several genetic syndromes that have been associated with the presence of pilomatrixomas: Turner syndrome (XO chromosome abnormality associated with short stature and cardiac defects), Gardner syndrome (polyposis coli and colon and rectal cancer), myotonic dystrophy, Rubinstein-Taybi syndrome (characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability), and trisomy 9. On physical examination our patient didn’t present with any of the typical features or history that could suggest any of these syndromes. A close follow-up and evaluation by a geneticist was recommended because after the initial visit she developed a second lesion on the forehead.

The differential diagnosis for this lesion includes other cysts that may occur on the ear such as epidermal inclusion cyst or dermoid cysts, though these lesions do not tend to be as firm as pilomatrixomas are, which can help with the diagnosis. Dermoid cysts are made of dermal and epidermal components. They are usually present at birth and are commonly seen on the scalp and the periorbital face.

Keloids are rubbery nodules of scar tissue that can form on sites of trauma, and although the lesion occurred after she had her ears pierced, the consistency and rapid growth of the lesion as well as the pathological description made this benign fibrous growth less likely.

When pilomatrixomas are inflamed they can be confused with vascular growths: in this particular case, a hemangioma or another vascular tumor such as a tufted angioma or kaposiform hemangioendothelioma. An ultrasound of the lesion could have helped in the differential diagnosis of the lesion.

Pilomatrixomas can grow significantly and in some cases get inflamed or infected. Surgical management of pilomatrixomas is often required because the lesions do not regress spontaneously.

Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.
 

References

Forbis R Jr and Helwig EB. Arch Dermatol 1961;83:606-18.

Schwarz Y et al. Int J Pediatr Otorhinolaryngol. 2016 Jun;85:148-53.

I have been noticing “jokes” lately about doctors. Magazine cartoons depict doctors as conveying a bad prognosis in abrupt, indirect, vague ways. I remember, from medical school, the joke about pediatricians being doctors for patients “from the waist up” – wimps about tough topics such as sexuality. As an inherently shy person, I have appreciated the structure of the contractual relationship with families that both gives me permission and requires me to be direct about topics that would not be socially acceptable to discuss in other relationships.

Examples include our asking about bowel movements, genital symptoms, marital conflict, past abortions, food insecurity, adherence to medication, history of trauma or discrimination, substance use, illegal conduct, and suicidal ideation, among others. By bringing up these topics nonjudgmentally and with skill, we are demonstrating openness and making it safe for the patient/parent to ask questions about their own concerns.

Since these may be topics for which we lack knowledge or have very little power to help, it is far easier to not bring them up. Yet failing to have the courage to elicit sensitive information may delay the correct diagnosis, result in inappropriate tests or treatments, or miss factors critical in either the cause or solution for the patient’s problems.

Historically, being a physician has conveyed a promise of confidentiality and always trying to do what is best for the patient. The fact that we had to swear an oath to do so may also indicate that these things are not easy to do.

Yes, we need a lot of knowledge to know what is truly in the patient’s best interest. But we need to take personal risks to do it as well. There have been times when a parent has shouted “That is none of your business” at me or stormed out. Although only one patient has ever connected when striking out at me, other clinicians have not been as lucky (or had such small patients); some have even been killed.

For those of us in private practice, upsetting a patient with our well-intentioned words may mean losing them from our income stream or having them post negative comments online, which may affect our reputation in the community. Patients may not return for needed follow-up if a conversation was too uncomfortable for them. Current political divisions make this even trickier.

These days anxiety about getting behind in seeing the next patient may be a covert reason for avoiding difficult conversations as tears or anger take extra time. Certainly, fears of these outcomes can make us hold back from talking about important but potentially upsetting topics.

Of course, courage does not just mean being direct with questions, stating your observations, or giving advice. Courage requires thoughtfulness about possible adverse outcomes and their effect on others. It is not just “stupid bravery,” to proceed even when sensing danger. Courage is thus best paired with skill. It is:

• Setting up potentially difficult discussions with privacy (from the child or parent), seating, and enough time to listen.
• Normalizing questions by saying “I ask all my patients about ...” so patients do not feel singled out.
• Asking the patient or family first what they think is going on and how their own culture might regard the issue.
• Using simple language and arranging a translator when needed.
• Not just stating facts but checking “to be sure I explained well enough” rather than setting a patient up to appear ignorant for not understanding.
• Offering to contact the patient or other family member/support soon to review what you said and answer more questions.
• Offering a second opinion option.
• Promising to get more information when you do not know.
• Always leaving room for hope and sharing in that hope with them.

And it is crucial to have a way to keep notes about past trauma or difficult topics for a patient so neither you nor subsequent clinicians unnecessarily ask about sensitive topics.

Courage includes facing difficult situations without undue delay. Making that call about an abnormal test result right away, even when you are tired and upset, takes courage. Each time you overcome your own reluctance it takes moral strength but tends to make future courageous acts easier. Speaking up to a specialist on rounds when you think he or she is incorrect takes courage to serve the patient’s best interest. Being willing to try a new workflow in your office takes the courage to risk looking awkward or being judged by your team, but can be essential to progress. Asking for help or an opinion, sometimes from a medical assistant or student, can take courage but may reduce status barriers and improve relationships. Standing up for your values when they are not popular may take courage in some organizations. It takes courage to admit a mistake, even when your mistake may not otherwise be noticed.

How can we grow in courage? T. Berry Brazelton, MD, was a model of courage for me during my training – able and willing to tell about a child’s delays or ask about a parent’s well-being with empathy and by giving hope. Dr. Brazelton, pediatrician, developer of the Neonatal Behavioral Assessment Scale, professor at Harvard Medical School and founder of its Child Development Unit, was a world-renowned educator about the development of children and founder of the Touchpoints program. Our goal should be to promise to partner with the family in dealing with the problem, no matter how difficult or tender. I hope you had role models who not only said what to do but also demonstrated it with patients.

We had the privilege of hearing stories of difficult situations from hundreds of pediatricians in group sessions over the years in the Collaborative Office Rounds program. What group members often said that they valued most from these sessions was hearing examples of words they might say in these cases, either modeled by the coleaders or suggested by their pediatrician peers. Opportunities to share the tough times with trusted empathic peers is an important resource rarer and thus even more worth securing for yourself.

Being courageous may not be natural part of your personality but Aristotle said, “We become what we repeatedly do.” Even if you do not consider yourself so now, with practice you can become courageous and reap its benefits for your patients and yourself.

Dr. Howard is assistant professor of pediatrics at Johns Hopkins University, Baltimore, and creator of CHADIS. She had no other relevant disclosures. Dr. Howard’s contribution to this publication was as a paid expert to MDedge News. E-mail her at [email protected].

I have been noticing “jokes” lately about doctors. Magazine cartoons depict doctors as conveying a bad prognosis in abrupt, indirect, vague ways. I remember, from medical school, the joke about pediatricians being doctors for patients “from the waist up” – wimps about tough topics such as sexuality. As an inherently shy person, I have appreciated the structure of the contractual relationship with families that both gives me permission and requires me to be direct about topics that would not be socially acceptable to discuss in other relationships.

Examples include our asking about bowel movements, genital symptoms, marital conflict, past abortions, food insecurity, adherence to medication, history of trauma or discrimination, substance use, illegal conduct, and suicidal ideation, among others. By bringing up these topics nonjudgmentally and with skill, we are demonstrating openness and making it safe for the patient/parent to ask questions about their own concerns.

Since these may be topics for which we lack knowledge or have very little power to help, it is far easier to not bring them up. Yet failing to have the courage to elicit sensitive information may delay the correct diagnosis, result in inappropriate tests or treatments, or miss factors critical in either the cause or solution for the patient’s problems.

Historically, being a physician has conveyed a promise of confidentiality and always trying to do what is best for the patient. The fact that we had to swear an oath to do so may also indicate that these things are not easy to do.

Yes, we need a lot of knowledge to know what is truly in the patient’s best interest. But we need to take personal risks to do it as well. There have been times when a parent has shouted “That is none of your business” at me or stormed out. Although only one patient has ever connected when striking out at me, other clinicians have not been as lucky (or had such small patients); some have even been killed.

For those of us in private practice, upsetting a patient with our well-intentioned words may mean losing them from our income stream or having them post negative comments online, which may affect our reputation in the community. Patients may not return for needed follow-up if a conversation was too uncomfortable for them. Current political divisions make this even trickier.

These days anxiety about getting behind in seeing the next patient may be a covert reason for avoiding difficult conversations as tears or anger take extra time. Certainly, fears of these outcomes can make us hold back from talking about important but potentially upsetting topics.

Of course, courage does not just mean being direct with questions, stating your observations, or giving advice. Courage requires thoughtfulness about possible adverse outcomes and their effect on others. It is not just “stupid bravery,” to proceed even when sensing danger. Courage is thus best paired with skill. It is:

• Setting up potentially difficult discussions with privacy (from the child or parent), seating, and enough time to listen.
• Normalizing questions by saying “I ask all my patients about ...” so patients do not feel singled out.
• Asking the patient or family first what they think is going on and how their own culture might regard the issue.
• Using simple language and arranging a translator when needed.
• Not just stating facts but checking “to be sure I explained well enough” rather than setting a patient up to appear ignorant for not understanding.
• Offering to contact the patient or other family member/support soon to review what you said and answer more questions.
• Offering a second opinion option.
• Promising to get more information when you do not know.
• Always leaving room for hope and sharing in that hope with them.

And it is crucial to have a way to keep notes about past trauma or difficult topics for a patient so neither you nor subsequent clinicians unnecessarily ask about sensitive topics.

Courage includes facing difficult situations without undue delay. Making that call about an abnormal test result right away, even when you are tired and upset, takes courage. Each time you overcome your own reluctance it takes moral strength but tends to make future courageous acts easier. Speaking up to a specialist on rounds when you think he or she is incorrect takes courage to serve the patient’s best interest. Being willing to try a new workflow in your office takes the courage to risk looking awkward or being judged by your team, but can be essential to progress. Asking for help or an opinion, sometimes from a medical assistant or student, can take courage but may reduce status barriers and improve relationships. Standing up for your values when they are not popular may take courage in some organizations. It takes courage to admit a mistake, even when your mistake may not otherwise be noticed.

How can we grow in courage? T. Berry Brazelton, MD, was a model of courage for me during my training – able and willing to tell about a child’s delays or ask about a parent’s well-being with empathy and by giving hope. Dr. Brazelton, pediatrician, developer of the Neonatal Behavioral Assessment Scale, professor at Harvard Medical School and founder of its Child Development Unit, was a world-renowned educator about the development of children and founder of the Touchpoints program. Our goal should be to promise to partner with the family in dealing with the problem, no matter how difficult or tender. I hope you had role models who not only said what to do but also demonstrated it with patients.

We had the privilege of hearing stories of difficult situations from hundreds of pediatricians in group sessions over the years in the Collaborative Office Rounds program. What group members often said that they valued most from these sessions was hearing examples of words they might say in these cases, either modeled by the coleaders or suggested by their pediatrician peers. Opportunities to share the tough times with trusted empathic peers is an important resource rarer and thus even more worth securing for yourself.

Being courageous may not be natural part of your personality but Aristotle said, “We become what we repeatedly do.” Even if you do not consider yourself so now, with practice you can become courageous and reap its benefits for your patients and yourself.

Dr. Howard is assistant professor of pediatrics at Johns Hopkins University, Baltimore, and creator of CHADIS. She had no other relevant disclosures. Dr. Howard’s contribution to this publication was as a paid expert to MDedge News. E-mail her at [email protected].

I have been noticing “jokes” lately about doctors. Magazine cartoons depict doctors as conveying a bad prognosis in abrupt, indirect, vague ways. I remember, from medical school, the joke about pediatricians being doctors for patients “from the waist up” – wimps about tough topics such as sexuality. As an inherently shy person, I have appreciated the structure of the contractual relationship with families that both gives me permission and requires me to be direct about topics that would not be socially acceptable to discuss in other relationships.

Examples include our asking about bowel movements, genital symptoms, marital conflict, past abortions, food insecurity, adherence to medication, history of trauma or discrimination, substance use, illegal conduct, and suicidal ideation, among others. By bringing up these topics nonjudgmentally and with skill, we are demonstrating openness and making it safe for the patient/parent to ask questions about their own concerns.

Since these may be topics for which we lack knowledge or have very little power to help, it is far easier to not bring them up. Yet failing to have the courage to elicit sensitive information may delay the correct diagnosis, result in inappropriate tests or treatments, or miss factors critical in either the cause or solution for the patient’s problems.

Historically, being a physician has conveyed a promise of confidentiality and always trying to do what is best for the patient. The fact that we had to swear an oath to do so may also indicate that these things are not easy to do.

Yes, we need a lot of knowledge to know what is truly in the patient’s best interest. But we need to take personal risks to do it as well. There have been times when a parent has shouted “That is none of your business” at me or stormed out. Although only one patient has ever connected when striking out at me, other clinicians have not been as lucky (or had such small patients); some have even been killed.

For those of us in private practice, upsetting a patient with our well-intentioned words may mean losing them from our income stream or having them post negative comments online, which may affect our reputation in the community. Patients may not return for needed follow-up if a conversation was too uncomfortable for them. Current political divisions make this even trickier.

These days anxiety about getting behind in seeing the next patient may be a covert reason for avoiding difficult conversations as tears or anger take extra time. Certainly, fears of these outcomes can make us hold back from talking about important but potentially upsetting topics.

Of course, courage does not just mean being direct with questions, stating your observations, or giving advice. Courage requires thoughtfulness about possible adverse outcomes and their effect on others. It is not just “stupid bravery,” to proceed even when sensing danger. Courage is thus best paired with skill. It is:

• Setting up potentially difficult discussions with privacy (from the child or parent), seating, and enough time to listen.
• Normalizing questions by saying “I ask all my patients about ...” so patients do not feel singled out.
• Asking the patient or family first what they think is going on and how their own culture might regard the issue.
• Using simple language and arranging a translator when needed.
• Not just stating facts but checking “to be sure I explained well enough” rather than setting a patient up to appear ignorant for not understanding.
• Offering to contact the patient or other family member/support soon to review what you said and answer more questions.
• Offering a second opinion option.
• Promising to get more information when you do not know.
• Always leaving room for hope and sharing in that hope with them.

And it is crucial to have a way to keep notes about past trauma or difficult topics for a patient so neither you nor subsequent clinicians unnecessarily ask about sensitive topics.

Courage includes facing difficult situations without undue delay. Making that call about an abnormal test result right away, even when you are tired and upset, takes courage. Each time you overcome your own reluctance it takes moral strength but tends to make future courageous acts easier. Speaking up to a specialist on rounds when you think he or she is incorrect takes courage to serve the patient’s best interest. Being willing to try a new workflow in your office takes the courage to risk looking awkward or being judged by your team, but can be essential to progress. Asking for help or an opinion, sometimes from a medical assistant or student, can take courage but may reduce status barriers and improve relationships. Standing up for your values when they are not popular may take courage in some organizations. It takes courage to admit a mistake, even when your mistake may not otherwise be noticed.

How can we grow in courage? T. Berry Brazelton, MD, was a model of courage for me during my training – able and willing to tell about a child’s delays or ask about a parent’s well-being with empathy and by giving hope. Dr. Brazelton, pediatrician, developer of the Neonatal Behavioral Assessment Scale, professor at Harvard Medical School and founder of its Child Development Unit, was a world-renowned educator about the development of children and founder of the Touchpoints program. Our goal should be to promise to partner with the family in dealing with the problem, no matter how difficult or tender. I hope you had role models who not only said what to do but also demonstrated it with patients.

We had the privilege of hearing stories of difficult situations from hundreds of pediatricians in group sessions over the years in the Collaborative Office Rounds program. What group members often said that they valued most from these sessions was hearing examples of words they might say in these cases, either modeled by the coleaders or suggested by their pediatrician peers. Opportunities to share the tough times with trusted empathic peers is an important resource rarer and thus even more worth securing for yourself.

Being courageous may not be natural part of your personality but Aristotle said, “We become what we repeatedly do.” Even if you do not consider yourself so now, with practice you can become courageous and reap its benefits for your patients and yourself.

Dr. Howard is assistant professor of pediatrics at Johns Hopkins University, Baltimore, and creator of CHADIS. She had no other relevant disclosures. Dr. Howard’s contribution to this publication was as a paid expert to MDedge News. E-mail her at [email protected].

Tourette syndrome, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and autism spectrum disorder (ASD) share significant overlap in symptomatology, and it can be challenging at times to distinguish between these conditions. Being able to do so, however, can help guide more targeted interventions and accommodations to optimize a patient’s level of functioning.

Oregon Health & Science University (OHSU)

Case example

A healthy, bright 6-year-old boy is referred by his family doctor to an academic medical center for a full team evaluation because of suspicion of ASD, after having already been diagnosed with ADHD at the age of 5. His difficulties with inattention, impulsivity, and hyperactivity, as well as his behavioral rigidities and sensory avoidant and sensory seeking behaviors have caused functional impairments for him in his kindergarten classroom. He has been penalized with removal of recess on more than one occasion. A low dose of a stimulant had been tried but resulted in a perceived increase in disruptive behaviors.

The boy, while hyperkinetic and often paying poor attention, is quite capable of high-quality and well-modulated eye contact paired with typical social referencing and reciprocity when actively engaging with the examiner and his parents. He does have a reported history of serial fixated interests and some repetitive behaviors but is also noted to be flexible in his interpersonal style, maintains other varied and typical interests, easily directs affect, utilizes a wide array of fluid gestures paired naturally with verbal communication, and shares enjoyment with smoothly coordinated gaze. He has mild articulation errors but uses pronouns appropriately and has no scripted speech or echolalia, though does engage in some whispered palilalia intermittently.

He is generally quite cooperative and redirectable when focused and has a completely normal physical and neurologic examination. During the visit, the doctor notices the boy making an intermittent honking sound, which parents report as an attention-seeking strategy during times of stress. Further physician-guided information gathering around other repetitive noises and movements elicits a history of engagement in repetitive hand-to-groin movements, some exaggerated blinking, and a number of other waxing and waning subtle motor and phonic tics with onset in preschool. These noises and movements have generally been identified as “fidgeting” and “misbehaving” by well-meaning caregivers in the home and school environments.

Both Tourette syndrome and ASD are more common in males, with stereotyped patterns of movements and behaviors; anxious, obsessive, and compulsive behaviors resulting in behavioral rigidities; sensory sensitivities; and increased rates of hyperkinesis with decreased impulse control which result in increased sensory-seeking behaviors. Diagnostic criteria for Tourette syndrome are met when a child has had multiple motor tics and at least one phonic tic present for at least 1 year, with tic-free intervals lasting no longer than 3 months, and with onset before the age of 18. Typically, tics emerge in late preschool and early grade school, and some children even develop repetitive movements as early as toddlerhood. Tics tend to worsen around the peripubertal era, then often generally improve in the teen years. Tic types, frequency, and severity general fluctuate over time.

Forty percent of children with Tourette syndrome also meet criteria for OCD, with many more having OCD traits, and about 65% of children with Tourette syndrome also meet criteria for ADHD, with many more having ADHD traits. OCD can lead to more rigid and directive social interactions in children as well as obsessive interests, just as ADHD can lead to less socially attuned and less cooperative behaviors, even in children who do not meet criteria for ASD.

For example, a child with OCD in the absence of ASD may still “police” other kids in class and be overly focused on the rules of a game, which may become a social liability. Likewise, a child with ADHD in the absence of ASD may be so distractible that focusing on what other kids are saying and their paired facial expressions is compromised, leading to poor-quality social reciprocity during interactions with peers. Given the remarkable overlap in shared symptoms, it is essential for pediatric providers to consider Tourette syndrome in the differential for any child with repetitive movements and behaviors in addition to ASD and a wide array of other neurodevelopment differences, including global developmental delays and intellectual disabilities. This is of particular importance as the diagnosis of Tourette syndrome can be used to gain access to developmental disability services if the condition has resulted in true adaptive impairments.

It is determined that the boy does in fact meet criteria for ADHD, but also for OCD and Tourette syndrome. Both his Autism Diagnostic Observation Schedule and DSM-5–influenced autism interview are found to be in the nonclinical ranges, given his quality of communication, social engagement, imaginative play, and varied interests. A diagnosis of ASD is not felt to be an appropriate conceptualization of his neurodevelopmental differences. He is started on a low dose of guanfacine, which induces a decline in tics, impulsivity, and hyperkinesis. He is given a 504 plan in school that includes scheduled “tic breaks,” sensory fidgets for use in the classroom, extra movement opportunities as needed, and utilization of a gentle cueing system between him and his teacher for low-key redirection of disruptive behaviors. He is no longer penalized for inattention or tics, and his 504 plan protects him from the use of recess removal as a behavioral modification strategy.

His parents enroll him in the community swim program for extra exercise, focus on decreasing screen time, and give him an earlier bedtime to help decrease his tics and rigidities, while improving his ability to self-regulate. Eventually, a low dose of a newer-generation stimulant is added to his guanfacine, with excellent results and only a mild increase in tolerable tics.

The child in the vignette did well with a 504 plan based on his medical diagnoses, though if related learning difficulties had persisted, eligibility under Other Health Impaired could be used to provide eligibility for an Individualized Education Plan. Alpha-agonists can be helpful for symptom control in those with Tourette syndrome by simultaneously treating tics, hyperkinesis, and impulsivity, while decreasing the risk of tic exacerbation with use of stimulants. Overall, understanding the neurodiversity related to Tourette syndrome can help providers advocate for home and community-based supports to optimize general functioning and quality of life.

Dr. Roth is a developmental and behavioral pediatrician in Eugene, Ore. She has no conflicts of interest.

References

Darrow S et al. J Am Acad Child Adolescent Psych. 2017;56(7):610-7.

AAP Section on Developmental and Behavioral Pediatrics. Developmental and Behavioral Pediatrics. Voigt RG et al, eds. 2018: American Academy of Pediatrics.

Tourette syndrome, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and autism spectrum disorder (ASD) share significant overlap in symptomatology, and it can be challenging at times to distinguish between these conditions. Being able to do so, however, can help guide more targeted interventions and accommodations to optimize a patient’s level of functioning.

Oregon Health & Science University (OHSU)

Case example

A healthy, bright 6-year-old boy is referred by his family doctor to an academic medical center for a full team evaluation because of suspicion of ASD, after having already been diagnosed with ADHD at the age of 5. His difficulties with inattention, impulsivity, and hyperactivity, as well as his behavioral rigidities and sensory avoidant and sensory seeking behaviors have caused functional impairments for him in his kindergarten classroom. He has been penalized with removal of recess on more than one occasion. A low dose of a stimulant had been tried but resulted in a perceived increase in disruptive behaviors.

The boy, while hyperkinetic and often paying poor attention, is quite capable of high-quality and well-modulated eye contact paired with typical social referencing and reciprocity when actively engaging with the examiner and his parents. He does have a reported history of serial fixated interests and some repetitive behaviors but is also noted to be flexible in his interpersonal style, maintains other varied and typical interests, easily directs affect, utilizes a wide array of fluid gestures paired naturally with verbal communication, and shares enjoyment with smoothly coordinated gaze. He has mild articulation errors but uses pronouns appropriately and has no scripted speech or echolalia, though does engage in some whispered palilalia intermittently.

He is generally quite cooperative and redirectable when focused and has a completely normal physical and neurologic examination. During the visit, the doctor notices the boy making an intermittent honking sound, which parents report as an attention-seeking strategy during times of stress. Further physician-guided information gathering around other repetitive noises and movements elicits a history of engagement in repetitive hand-to-groin movements, some exaggerated blinking, and a number of other waxing and waning subtle motor and phonic tics with onset in preschool. These noises and movements have generally been identified as “fidgeting” and “misbehaving” by well-meaning caregivers in the home and school environments.

Both Tourette syndrome and ASD are more common in males, with stereotyped patterns of movements and behaviors; anxious, obsessive, and compulsive behaviors resulting in behavioral rigidities; sensory sensitivities; and increased rates of hyperkinesis with decreased impulse control which result in increased sensory-seeking behaviors. Diagnostic criteria for Tourette syndrome are met when a child has had multiple motor tics and at least one phonic tic present for at least 1 year, with tic-free intervals lasting no longer than 3 months, and with onset before the age of 18. Typically, tics emerge in late preschool and early grade school, and some children even develop repetitive movements as early as toddlerhood. Tics tend to worsen around the peripubertal era, then often generally improve in the teen years. Tic types, frequency, and severity general fluctuate over time.

Forty percent of children with Tourette syndrome also meet criteria for OCD, with many more having OCD traits, and about 65% of children with Tourette syndrome also meet criteria for ADHD, with many more having ADHD traits. OCD can lead to more rigid and directive social interactions in children as well as obsessive interests, just as ADHD can lead to less socially attuned and less cooperative behaviors, even in children who do not meet criteria for ASD.

For example, a child with OCD in the absence of ASD may still “police” other kids in class and be overly focused on the rules of a game, which may become a social liability. Likewise, a child with ADHD in the absence of ASD may be so distractible that focusing on what other kids are saying and their paired facial expressions is compromised, leading to poor-quality social reciprocity during interactions with peers. Given the remarkable overlap in shared symptoms, it is essential for pediatric providers to consider Tourette syndrome in the differential for any child with repetitive movements and behaviors in addition to ASD and a wide array of other neurodevelopment differences, including global developmental delays and intellectual disabilities. This is of particular importance as the diagnosis of Tourette syndrome can be used to gain access to developmental disability services if the condition has resulted in true adaptive impairments.

It is determined that the boy does in fact meet criteria for ADHD, but also for OCD and Tourette syndrome. Both his Autism Diagnostic Observation Schedule and DSM-5–influenced autism interview are found to be in the nonclinical ranges, given his quality of communication, social engagement, imaginative play, and varied interests. A diagnosis of ASD is not felt to be an appropriate conceptualization of his neurodevelopmental differences. He is started on a low dose of guanfacine, which induces a decline in tics, impulsivity, and hyperkinesis. He is given a 504 plan in school that includes scheduled “tic breaks,” sensory fidgets for use in the classroom, extra movement opportunities as needed, and utilization of a gentle cueing system between him and his teacher for low-key redirection of disruptive behaviors. He is no longer penalized for inattention or tics, and his 504 plan protects him from the use of recess removal as a behavioral modification strategy.

His parents enroll him in the community swim program for extra exercise, focus on decreasing screen time, and give him an earlier bedtime to help decrease his tics and rigidities, while improving his ability to self-regulate. Eventually, a low dose of a newer-generation stimulant is added to his guanfacine, with excellent results and only a mild increase in tolerable tics.

The child in the vignette did well with a 504 plan based on his medical diagnoses, though if related learning difficulties had persisted, eligibility under Other Health Impaired could be used to provide eligibility for an Individualized Education Plan. Alpha-agonists can be helpful for symptom control in those with Tourette syndrome by simultaneously treating tics, hyperkinesis, and impulsivity, while decreasing the risk of tic exacerbation with use of stimulants. Overall, understanding the neurodiversity related to Tourette syndrome can help providers advocate for home and community-based supports to optimize general functioning and quality of life.

Dr. Roth is a developmental and behavioral pediatrician in Eugene, Ore. She has no conflicts of interest.

References

Darrow S et al. J Am Acad Child Adolescent Psych. 2017;56(7):610-7.

AAP Section on Developmental and Behavioral Pediatrics. Developmental and Behavioral Pediatrics. Voigt RG et al, eds. 2018: American Academy of Pediatrics.

Tourette syndrome, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and autism spectrum disorder (ASD) share significant overlap in symptomatology, and it can be challenging at times to distinguish between these conditions. Being able to do so, however, can help guide more targeted interventions and accommodations to optimize a patient’s level of functioning.

Oregon Health & Science University (OHSU)

Case example

A healthy, bright 6-year-old boy is referred by his family doctor to an academic medical center for a full team evaluation because of suspicion of ASD, after having already been diagnosed with ADHD at the age of 5. His difficulties with inattention, impulsivity, and hyperactivity, as well as his behavioral rigidities and sensory avoidant and sensory seeking behaviors have caused functional impairments for him in his kindergarten classroom. He has been penalized with removal of recess on more than one occasion. A low dose of a stimulant had been tried but resulted in a perceived increase in disruptive behaviors.

The boy, while hyperkinetic and often paying poor attention, is quite capable of high-quality and well-modulated eye contact paired with typical social referencing and reciprocity when actively engaging with the examiner and his parents. He does have a reported history of serial fixated interests and some repetitive behaviors but is also noted to be flexible in his interpersonal style, maintains other varied and typical interests, easily directs affect, utilizes a wide array of fluid gestures paired naturally with verbal communication, and shares enjoyment with smoothly coordinated gaze. He has mild articulation errors but uses pronouns appropriately and has no scripted speech or echolalia, though does engage in some whispered palilalia intermittently.

He is generally quite cooperative and redirectable when focused and has a completely normal physical and neurologic examination. During the visit, the doctor notices the boy making an intermittent honking sound, which parents report as an attention-seeking strategy during times of stress. Further physician-guided information gathering around other repetitive noises and movements elicits a history of engagement in repetitive hand-to-groin movements, some exaggerated blinking, and a number of other waxing and waning subtle motor and phonic tics with onset in preschool. These noises and movements have generally been identified as “fidgeting” and “misbehaving” by well-meaning caregivers in the home and school environments.

Both Tourette syndrome and ASD are more common in males, with stereotyped patterns of movements and behaviors; anxious, obsessive, and compulsive behaviors resulting in behavioral rigidities; sensory sensitivities; and increased rates of hyperkinesis with decreased impulse control which result in increased sensory-seeking behaviors. Diagnostic criteria for Tourette syndrome are met when a child has had multiple motor tics and at least one phonic tic present for at least 1 year, with tic-free intervals lasting no longer than 3 months, and with onset before the age of 18. Typically, tics emerge in late preschool and early grade school, and some children even develop repetitive movements as early as toddlerhood. Tics tend to worsen around the peripubertal era, then often generally improve in the teen years. Tic types, frequency, and severity general fluctuate over time.

Forty percent of children with Tourette syndrome also meet criteria for OCD, with many more having OCD traits, and about 65% of children with Tourette syndrome also meet criteria for ADHD, with many more having ADHD traits. OCD can lead to more rigid and directive social interactions in children as well as obsessive interests, just as ADHD can lead to less socially attuned and less cooperative behaviors, even in children who do not meet criteria for ASD.

For example, a child with OCD in the absence of ASD may still “police” other kids in class and be overly focused on the rules of a game, which may become a social liability. Likewise, a child with ADHD in the absence of ASD may be so distractible that focusing on what other kids are saying and their paired facial expressions is compromised, leading to poor-quality social reciprocity during interactions with peers. Given the remarkable overlap in shared symptoms, it is essential for pediatric providers to consider Tourette syndrome in the differential for any child with repetitive movements and behaviors in addition to ASD and a wide array of other neurodevelopment differences, including global developmental delays and intellectual disabilities. This is of particular importance as the diagnosis of Tourette syndrome can be used to gain access to developmental disability services if the condition has resulted in true adaptive impairments.

It is determined that the boy does in fact meet criteria for ADHD, but also for OCD and Tourette syndrome. Both his Autism Diagnostic Observation Schedule and DSM-5–influenced autism interview are found to be in the nonclinical ranges, given his quality of communication, social engagement, imaginative play, and varied interests. A diagnosis of ASD is not felt to be an appropriate conceptualization of his neurodevelopmental differences. He is started on a low dose of guanfacine, which induces a decline in tics, impulsivity, and hyperkinesis. He is given a 504 plan in school that includes scheduled “tic breaks,” sensory fidgets for use in the classroom, extra movement opportunities as needed, and utilization of a gentle cueing system between him and his teacher for low-key redirection of disruptive behaviors. He is no longer penalized for inattention or tics, and his 504 plan protects him from the use of recess removal as a behavioral modification strategy.

His parents enroll him in the community swim program for extra exercise, focus on decreasing screen time, and give him an earlier bedtime to help decrease his tics and rigidities, while improving his ability to self-regulate. Eventually, a low dose of a newer-generation stimulant is added to his guanfacine, with excellent results and only a mild increase in tolerable tics.

The child in the vignette did well with a 504 plan based on his medical diagnoses, though if related learning difficulties had persisted, eligibility under Other Health Impaired could be used to provide eligibility for an Individualized Education Plan. Alpha-agonists can be helpful for symptom control in those with Tourette syndrome by simultaneously treating tics, hyperkinesis, and impulsivity, while decreasing the risk of tic exacerbation with use of stimulants. Overall, understanding the neurodiversity related to Tourette syndrome can help providers advocate for home and community-based supports to optimize general functioning and quality of life.

Dr. Roth is a developmental and behavioral pediatrician in Eugene, Ore. She has no conflicts of interest.

References

Darrow S et al. J Am Acad Child Adolescent Psych. 2017;56(7):610-7.

AAP Section on Developmental and Behavioral Pediatrics. Developmental and Behavioral Pediatrics. Voigt RG et al, eds. 2018: American Academy of Pediatrics.

The World Professional Association for Transgender Health (WPATH) is an interdisciplinary professional and educational organization devoted to transgender health. One of their activities is to produce the Standards of Care (SOC) for treatment of individuals with gender dysphoria. According to WPATH, the SOC “articulate a professional consensus about the psychiatric, psychological, medical, and surgical management of gender dysphoria and help professionals understand the parameters within which they may offer assistance to those with these conditions.” Many clinicians around the world use these guidelines to help them care for patients with gender dysphoria and diverse gender expressions.

The most recent SOC, version 8, were released on Sept. 15, 2022, after a 2-year postponement because of the pandemic. These new standards represent the first update to the SOC since version 7, which was released in 2012. Given how recent this update is, this column will attempt to summarize the changes in the new guidelines that affect children and adolescents.

One of the major differences between SOC versions 7 and 8 is that version 8 now includes a chapter specifically dedicated to the care of adolescents. Version 7 lumped children and adolescents together into one chapter. This is an important distinction for SOC 8, as it highlights that care for prepubertal youth is simply social in nature and distinct from that of pubertal adolescents. Social transition includes things such as using an affirmed name/pronouns and changing hair style and clothes. It does not include medications of any kind. Allowing these youth the time and space to explore the natural gender diversity of childhood leads to improved psychological outcomes over time and reduces adversity. Psychological support, where indicated, should be offered to gender-diverse children and their families to explore the persistence, consistence, and insistence of that child’s gender identity.

Once a child reaches puberty, medications may come into play as part of an adolescent’s transition. SOC 7 had established a minimum age of 16 before any partially reversible medications (testosterone, estrogen) were started as part of a patient’s medical transition. Starting with SOC 8, a minimum age has been removed for the initiation of gender-affirming hormone therapy. However, a patient must still have begun their natal puberty before any medication is started. A specific age was removed to acknowledge that maturity in adolescents occurs on a continuum and at different ages. SOC 8 guidelines continue to recommend that the individual’s emotional, cognitive, and psychosocial development be taken into account when determining their ability to provide consent for treatment. These individuals should still undergo a comprehensive assessment, as described below.

Similar to SOC 7, SOC 8 continues to stress the importance of a comprehensive, multidisciplinary evaluation of those adolescents who seek medical therapy as part of their transition. This allows for the exploration of additional coexisting causes of gender dysphoria, such as anxiety, depression, or other mental health conditions. If these exist, then they must be appropriately treated before any gender-affirming medical treatment is initiated. Assessments should be performed by clinicians who have training and expertise with the developmental trajectory of adolescents, as well as with common mental health conditions. These assessments are also critical, as SOC 8 acknowledges a rise in the number of adolescents who may not have had gender-diverse expression in childhood.

SOC 8 and the Endocrine Society Guidelines (see references) provide physicians and other health care professionals with a road map for addressing the needs of transgender and gender-diverse persons. By referencing these guidelines when taking care of these patients, physicians and other health care professionals will know that they are providing the most up-to-date, evidence-based care.

Dr. M. Brett Cooper is an assistant professor of pediatrics at University of Texas Southwestern, Dallas, and an adolescent medicine specialist at Children’s Medical Center Dallas.

References

SOC 8: https://www.tandfonline.com/doi/pdf/10.1080/26895269.2022.2100644

SOC 7: https://www.wpath.org/media/cms/Documents/SOC%20v7/SOC%20V7_English2012.pdf?_t=1613669341

Endocrine Society Gender Affirming Care Guidelines: https://academic.oup.com/jcem/article/102/11/3869/4157558?login=false

The World Professional Association for Transgender Health (WPATH) is an interdisciplinary professional and educational organization devoted to transgender health. One of their activities is to produce the Standards of Care (SOC) for treatment of individuals with gender dysphoria. According to WPATH, the SOC “articulate a professional consensus about the psychiatric, psychological, medical, and surgical management of gender dysphoria and help professionals understand the parameters within which they may offer assistance to those with these conditions.” Many clinicians around the world use these guidelines to help them care for patients with gender dysphoria and diverse gender expressions.

The most recent SOC, version 8, were released on Sept. 15, 2022, after a 2-year postponement because of the pandemic. These new standards represent the first update to the SOC since version 7, which was released in 2012. Given how recent this update is, this column will attempt to summarize the changes in the new guidelines that affect children and adolescents.

One of the major differences between SOC versions 7 and 8 is that version 8 now includes a chapter specifically dedicated to the care of adolescents. Version 7 lumped children and adolescents together into one chapter. This is an important distinction for SOC 8, as it highlights that care for prepubertal youth is simply social in nature and distinct from that of pubertal adolescents. Social transition includes things such as using an affirmed name/pronouns and changing hair style and clothes. It does not include medications of any kind. Allowing these youth the time and space to explore the natural gender diversity of childhood leads to improved psychological outcomes over time and reduces adversity. Psychological support, where indicated, should be offered to gender-diverse children and their families to explore the persistence, consistence, and insistence of that child’s gender identity.

Once a child reaches puberty, medications may come into play as part of an adolescent’s transition. SOC 7 had established a minimum age of 16 before any partially reversible medications (testosterone, estrogen) were started as part of a patient’s medical transition. Starting with SOC 8, a minimum age has been removed for the initiation of gender-affirming hormone therapy. However, a patient must still have begun their natal puberty before any medication is started. A specific age was removed to acknowledge that maturity in adolescents occurs on a continuum and at different ages. SOC 8 guidelines continue to recommend that the individual’s emotional, cognitive, and psychosocial development be taken into account when determining their ability to provide consent for treatment. These individuals should still undergo a comprehensive assessment, as described below.

Similar to SOC 7, SOC 8 continues to stress the importance of a comprehensive, multidisciplinary evaluation of those adolescents who seek medical therapy as part of their transition. This allows for the exploration of additional coexisting causes of gender dysphoria, such as anxiety, depression, or other mental health conditions. If these exist, then they must be appropriately treated before any gender-affirming medical treatment is initiated. Assessments should be performed by clinicians who have training and expertise with the developmental trajectory of adolescents, as well as with common mental health conditions. These assessments are also critical, as SOC 8 acknowledges a rise in the number of adolescents who may not have had gender-diverse expression in childhood.

SOC 8 and the Endocrine Society Guidelines (see references) provide physicians and other health care professionals with a road map for addressing the needs of transgender and gender-diverse persons. By referencing these guidelines when taking care of these patients, physicians and other health care professionals will know that they are providing the most up-to-date, evidence-based care.

Dr. M. Brett Cooper is an assistant professor of pediatrics at University of Texas Southwestern, Dallas, and an adolescent medicine specialist at Children’s Medical Center Dallas.

References

SOC 8: https://www.tandfonline.com/doi/pdf/10.1080/26895269.2022.2100644

SOC 7: https://www.wpath.org/media/cms/Documents/SOC%20v7/SOC%20V7_English2012.pdf?_t=1613669341

Endocrine Society Gender Affirming Care Guidelines: https://academic.oup.com/jcem/article/102/11/3869/4157558?login=false

The World Professional Association for Transgender Health (WPATH) is an interdisciplinary professional and educational organization devoted to transgender health. One of their activities is to produce the Standards of Care (SOC) for treatment of individuals with gender dysphoria. According to WPATH, the SOC “articulate a professional consensus about the psychiatric, psychological, medical, and surgical management of gender dysphoria and help professionals understand the parameters within which they may offer assistance to those with these conditions.” Many clinicians around the world use these guidelines to help them care for patients with gender dysphoria and diverse gender expressions.

The most recent SOC, version 8, were released on Sept. 15, 2022, after a 2-year postponement because of the pandemic. These new standards represent the first update to the SOC since version 7, which was released in 2012. Given how recent this update is, this column will attempt to summarize the changes in the new guidelines that affect children and adolescents.

One of the major differences between SOC versions 7 and 8 is that version 8 now includes a chapter specifically dedicated to the care of adolescents. Version 7 lumped children and adolescents together into one chapter. This is an important distinction for SOC 8, as it highlights that care for prepubertal youth is simply social in nature and distinct from that of pubertal adolescents. Social transition includes things such as using an affirmed name/pronouns and changing hair style and clothes. It does not include medications of any kind. Allowing these youth the time and space to explore the natural gender diversity of childhood leads to improved psychological outcomes over time and reduces adversity. Psychological support, where indicated, should be offered to gender-diverse children and their families to explore the persistence, consistence, and insistence of that child’s gender identity.

Once a child reaches puberty, medications may come into play as part of an adolescent’s transition. SOC 7 had established a minimum age of 16 before any partially reversible medications (testosterone, estrogen) were started as part of a patient’s medical transition. Starting with SOC 8, a minimum age has been removed for the initiation of gender-affirming hormone therapy. However, a patient must still have begun their natal puberty before any medication is started. A specific age was removed to acknowledge that maturity in adolescents occurs on a continuum and at different ages. SOC 8 guidelines continue to recommend that the individual’s emotional, cognitive, and psychosocial development be taken into account when determining their ability to provide consent for treatment. These individuals should still undergo a comprehensive assessment, as described below.

Similar to SOC 7, SOC 8 continues to stress the importance of a comprehensive, multidisciplinary evaluation of those adolescents who seek medical therapy as part of their transition. This allows for the exploration of additional coexisting causes of gender dysphoria, such as anxiety, depression, or other mental health conditions. If these exist, then they must be appropriately treated before any gender-affirming medical treatment is initiated. Assessments should be performed by clinicians who have training and expertise with the developmental trajectory of adolescents, as well as with common mental health conditions. These assessments are also critical, as SOC 8 acknowledges a rise in the number of adolescents who may not have had gender-diverse expression in childhood.

SOC 8 and the Endocrine Society Guidelines (see references) provide physicians and other health care professionals with a road map for addressing the needs of transgender and gender-diverse persons. By referencing these guidelines when taking care of these patients, physicians and other health care professionals will know that they are providing the most up-to-date, evidence-based care.

Dr. M. Brett Cooper is an assistant professor of pediatrics at University of Texas Southwestern, Dallas, and an adolescent medicine specialist at Children’s Medical Center Dallas.

References

SOC 8: https://www.tandfonline.com/doi/pdf/10.1080/26895269.2022.2100644

SOC 7: https://www.wpath.org/media/cms/Documents/SOC%20v7/SOC%20V7_English2012.pdf?_t=1613669341

Endocrine Society Gender Affirming Care Guidelines: https://academic.oup.com/jcem/article/102/11/3869/4157558?login=false

The number of cataloged rare diseases continues to grow every day. According to the National Human Genome Research Institute, more than 6,800 rare diseases have been identified and between 25 million and 30 million Americans are living with rare diseases today.

Thinking of rare diseases in categories

Many patients with undiagnosed rare diseases undergo what’s commonly referred to as a “diagnostic odyssey,” moving from one provider to another to try to find an explanation for a condition they may or may not know is rare. For some patients, this process can take many years or even decades. From the patient’s perspective, the main challenges are recognizing they have a problem that doesn’t fit a common disease model. Once they recognize they have a potential rare disease, working with a provider to find the right diagnosis among the “vast number of disease diagnoses and designations, and actually sifting through it to find the one that’s right for that patient” is the next challenge, said Dr. Summar.

However, knowledge of rare diseases among health care professionals is low, according to a 2019 paper published in the Orphanet Journal of Rare Diseases. In a survey from that paper asking general practitioners, pediatricians, specialists caring for adults, and specialists caring for children to evaluate their own knowledge of rare diseases, 42% of general practitioners said they had poor knowledge and 44% said they had a substandard understanding of rare diseases.

From a clinician’s standpoint, diagnosing rare diseases in their patients can be challenging, with the potential for overreferral or overdiagnosis. However, it is also easy to underdiagnose rare diseases by missing them, noted Dr. Summar. This issue can vary based on the experience of the provider, he said, because while general practitioners who recently began practicing may have had more exposure to rare diseases, for health care professionals who have been practicing for decades, “this is a new arrival in their field.”

During a busy day finding that extra time in an appointment to stop and question whether a patient might have a rare disease is another problem generalists face. “It is really tough for those general practitioners, because if you see 40 or 50 patients per day, how do you know which one of those [patients] were the ones that had something that wasn’t quite fitting or wasn’t quite ordinary?” he said.

When it comes to considering rare diseases in their patients, health care professionals in general practice should think in categories, rather than a particular rare disease, according to Dr. Summar. As the generalist is typically on the front lines of patient care, they don’t necessarily need to know everything about the rare disease they suspect a patient of having to help them. “You don’t need to know the specific gene and the specific mutation to make the diagnosis, or to even move the patient forward in the process,” he said.

The first steps a clinician can take include noticing when something with a patient is amiss, thinking about the disease category, and then creating a plan to move forward, such as referring the patient to a subspecialist. Learning to recognize when a cluster of symptoms doesn’t fit a pattern is important, as patients and their providers tend to gravitate toward diagnoses they are used to seeing, rather than suspecting a disease outside a usual pattern.

The framing of rare diseases as categories is a change in thinking over the last decade, said Dr. Summar. Whereas rare disease diagnoses previously focused on fitting certain criteria, the development of more refined genetic sequencing has allowed specialists to focus on categories and genes that affect rare diseases. “Getting at a diagnosis has really been turned up on its head, so that by employing both next-generation sequencing, newborn screening, and other [tools], we can actually get to diagnoses faster than we could before,” he said.

In terms of assessing for symptoms, health care professionals should be aware that “common” symptoms can be a sign of rare disease. What to look out for are the uncommon symptoms that create an “aha moment.” Having a “good filter” for sensing when something isn’t quite right with a patient is key. “It’s like any time when you’re screening things: You want high sensitivity, but you also have to have high specificity,” he said.

Another clinical pearl is that good communication between patient and provider is paramount. “We’re not always good listeners. Sometimes we hear what we expect to hear,” said Dr. Summar.
 

Rare disease warning signs

Within the context of rare neurological diseases, Dr. Summar noted one major category is delays in neurological development, which is typically identified in children or adolescents. As the most complex organ in the body, “the brain probably expresses more genes than any other tissue on a regular basis, both in its formation and its function,” said Dr. Summar. He said the single disease that rare disease specialists see most often is Down syndrome.

Another separate but overlapping major category is autism, identified in younger children through trouble with social interaction, lack of eye contact, and delays in speech and communication skills. A third major category is physical manifestations of neurological problems, such as in patients who have epilepsy.

A telltale sign in identifying a child with a potential rare neurological disease is when they are “not thriving in their development or not doing the things on track that you would expect, and you don’t have a really good answer for it,” said Dr. Summar. Generalists are normally on watch for developmental delays in newborns born premature or with a rough course in the nursery, but they should also be aware of delays in children born under otherwise typical circumstances. “If I have a patient who had normal pregnancy, normal labor and delivery, no real illnesses or anything like that, and yet wasn’t meeting those milestones, that’s a patient I would pay attention to,” he said.

Another clue general practitioners can use for suspecting rare diseases is when a patient is much sicker than usual during a routine illness like a cold or flu. “Those are patients we should be paying attention to because it may be there’s an underlying biochemical disorder or some disorder in how they’re responding to stress that’s just not quite right,” said Dr. Summar. How a patient responds to stressful situations can be a warning sign “because that can often unmask more severe symptoms in that rare disease and make it a little more apparent,” he said.
 

Learning more about rare diseases

Dr. Summar said he and his colleagues in the rare disease field have spent a lot of time working with medical schools to teach this mindset in their curricula. The concept is introduced in basic medical science courses and then reinforced in clinical rotations in the third or fourth year, he explained.

“One of the best places is during the pediatrics rotations in medical school,” he said. “Remember, kids are basically healthy. If a child has a chronic illness or a chronic disease, more often than not, it is probably a rare disease.”

For medical professionals not in pediatric practice, the concept is applied the same way for adult medicine. “You just want to make sure everyone takes a second when they have a patient and try not to assume. Don’t assume it’s exactly what it seems. Look at it carefully and make sure there’s not something else going on,” he said.

Health care professionals in general practice looking to learn more about rare diseases can increasingly find rare disease topics in their CME programs. Rare disease topics in CME programs are “one of the best places” to learn about the latest developments in the field, said Dr. Summar.
 

Will rare disease screening tools come to primary care?

Asking more doctors to refer out to rare disease specialists raises an issue: There simply aren’t enough rare disease specialists in the field to go around.

Dr. Summar said partnering testing – where a general practitioner contacts a specialist to begin the process of testing based on the suspected condition – is a good stopgap solution. Telemedicine, which rose in popularity during the COVID-19 pandemic, can also play an important role in connecting patients and their providers with rare disease specialists, especially for generalists in remote communities. Dr. Summar noted he continues to see approximately 30% of his patients this way today. Telemedicine appointments can take place in the patient’s home or at the provider’s office.

“It actually provides access to folks who otherwise might not be able to either take off from work for a day – particularly some of our single parent households – or have a child who just doesn’t travel well, or can’t really get there, even if it’s the patient themselves,” he explained. “We can see patients that historically would have had trouble or difficulty coming in, so for me, that’s been a good thing.”

Telemedicine also helps give access to care for more medically fragile patients, many of whom have rare diseases, he added. While some aspects of care need to occur in person, “it’s a good 80% or 90% solution for a lot of these things,” he said.

Sharing educational videos is another way for health care providers in general practice to inform patients and their families about rare diseases. Children’s National Medical Center has created a collection of these videos in a free app called GeneClips, which is available on major smartphone app stores. However, Dr. Summar emphasized that genetic counseling should still be performed by a rare disease specialist prior to testing.

“We’re still at the point where I think having genetic counseling for a family before they’re going into testing is really advisable, since a lot of the results have a probability assigned to them,” he said. “I don’t think we’re really at the level where a practitioner is going to, first of all, have the time to do those, and I don’t think there’s enough general public awareness of what these things mean.”

Although primary care providers may one day be able to perform more generalized sequencing in their own practice, that time has not yet come – but it is closer than you think. “The technology is there, and actually the cost has come down a lot,” said Dr. Summar.

One potential issue this would create is an additional discussion to manage expectations of test results with family when the results are unclear, which “actually takes more time than counseling about a yes or no, or even an outcome that is unexpected,” explained Dr. Summar.

“[W]e’re in a midlife period right now where we’re bringing forward this new technology, but we’ve got to continually prepare the field for it first,” he said. “I think in the future we’ll see that it has much greater utility in the general setting,” he said.


Jeff Craven is a freelance journalist specializing in medicine and health.

Suggested reading

Vandeborne L et al. Information needs of physicians regarding the diagnosis of rare diseases: A questionnaire-based study in Belgium. Orphanet J Rare Dis. 2019;14(1):99.

The number of cataloged rare diseases continues to grow every day. According to the National Human Genome Research Institute, more than 6,800 rare diseases have been identified and between 25 million and 30 million Americans are living with rare diseases today.

Thinking of rare diseases in categories

Many patients with undiagnosed rare diseases undergo what’s commonly referred to as a “diagnostic odyssey,” moving from one provider to another to try to find an explanation for a condition they may or may not know is rare. For some patients, this process can take many years or even decades. From the patient’s perspective, the main challenges are recognizing they have a problem that doesn’t fit a common disease model. Once they recognize they have a potential rare disease, working with a provider to find the right diagnosis among the “vast number of disease diagnoses and designations, and actually sifting through it to find the one that’s right for that patient” is the next challenge, said Dr. Summar.

However, knowledge of rare diseases among health care professionals is low, according to a 2019 paper published in the Orphanet Journal of Rare Diseases. In a survey from that paper asking general practitioners, pediatricians, specialists caring for adults, and specialists caring for children to evaluate their own knowledge of rare diseases, 42% of general practitioners said they had poor knowledge and 44% said they had a substandard understanding of rare diseases.

From a clinician’s standpoint, diagnosing rare diseases in their patients can be challenging, with the potential for overreferral or overdiagnosis. However, it is also easy to underdiagnose rare diseases by missing them, noted Dr. Summar. This issue can vary based on the experience of the provider, he said, because while general practitioners who recently began practicing may have had more exposure to rare diseases, for health care professionals who have been practicing for decades, “this is a new arrival in their field.”

During a busy day finding that extra time in an appointment to stop and question whether a patient might have a rare disease is another problem generalists face. “It is really tough for those general practitioners, because if you see 40 or 50 patients per day, how do you know which one of those [patients] were the ones that had something that wasn’t quite fitting or wasn’t quite ordinary?” he said.

When it comes to considering rare diseases in their patients, health care professionals in general practice should think in categories, rather than a particular rare disease, according to Dr. Summar. As the generalist is typically on the front lines of patient care, they don’t necessarily need to know everything about the rare disease they suspect a patient of having to help them. “You don’t need to know the specific gene and the specific mutation to make the diagnosis, or to even move the patient forward in the process,” he said.

The first steps a clinician can take include noticing when something with a patient is amiss, thinking about the disease category, and then creating a plan to move forward, such as referring the patient to a subspecialist. Learning to recognize when a cluster of symptoms doesn’t fit a pattern is important, as patients and their providers tend to gravitate toward diagnoses they are used to seeing, rather than suspecting a disease outside a usual pattern.

The framing of rare diseases as categories is a change in thinking over the last decade, said Dr. Summar. Whereas rare disease diagnoses previously focused on fitting certain criteria, the development of more refined genetic sequencing has allowed specialists to focus on categories and genes that affect rare diseases. “Getting at a diagnosis has really been turned up on its head, so that by employing both next-generation sequencing, newborn screening, and other [tools], we can actually get to diagnoses faster than we could before,” he said.

In terms of assessing for symptoms, health care professionals should be aware that “common” symptoms can be a sign of rare disease. What to look out for are the uncommon symptoms that create an “aha moment.” Having a “good filter” for sensing when something isn’t quite right with a patient is key. “It’s like any time when you’re screening things: You want high sensitivity, but you also have to have high specificity,” he said.

Another clinical pearl is that good communication between patient and provider is paramount. “We’re not always good listeners. Sometimes we hear what we expect to hear,” said Dr. Summar.
 

Rare disease warning signs

Within the context of rare neurological diseases, Dr. Summar noted one major category is delays in neurological development, which is typically identified in children or adolescents. As the most complex organ in the body, “the brain probably expresses more genes than any other tissue on a regular basis, both in its formation and its function,” said Dr. Summar. He said the single disease that rare disease specialists see most often is Down syndrome.

Another separate but overlapping major category is autism, identified in younger children through trouble with social interaction, lack of eye contact, and delays in speech and communication skills. A third major category is physical manifestations of neurological problems, such as in patients who have epilepsy.

A telltale sign in identifying a child with a potential rare neurological disease is when they are “not thriving in their development or not doing the things on track that you would expect, and you don’t have a really good answer for it,” said Dr. Summar. Generalists are normally on watch for developmental delays in newborns born premature or with a rough course in the nursery, but they should also be aware of delays in children born under otherwise typical circumstances. “If I have a patient who had normal pregnancy, normal labor and delivery, no real illnesses or anything like that, and yet wasn’t meeting those milestones, that’s a patient I would pay attention to,” he said.

Another clue general practitioners can use for suspecting rare diseases is when a patient is much sicker than usual during a routine illness like a cold or flu. “Those are patients we should be paying attention to because it may be there’s an underlying biochemical disorder or some disorder in how they’re responding to stress that’s just not quite right,” said Dr. Summar. How a patient responds to stressful situations can be a warning sign “because that can often unmask more severe symptoms in that rare disease and make it a little more apparent,” he said.
 

Learning more about rare diseases

Dr. Summar said he and his colleagues in the rare disease field have spent a lot of time working with medical schools to teach this mindset in their curricula. The concept is introduced in basic medical science courses and then reinforced in clinical rotations in the third or fourth year, he explained.

“One of the best places is during the pediatrics rotations in medical school,” he said. “Remember, kids are basically healthy. If a child has a chronic illness or a chronic disease, more often than not, it is probably a rare disease.”

For medical professionals not in pediatric practice, the concept is applied the same way for adult medicine. “You just want to make sure everyone takes a second when they have a patient and try not to assume. Don’t assume it’s exactly what it seems. Look at it carefully and make sure there’s not something else going on,” he said.

Health care professionals in general practice looking to learn more about rare diseases can increasingly find rare disease topics in their CME programs. Rare disease topics in CME programs are “one of the best places” to learn about the latest developments in the field, said Dr. Summar.
 

Will rare disease screening tools come to primary care?

Asking more doctors to refer out to rare disease specialists raises an issue: There simply aren’t enough rare disease specialists in the field to go around.

Dr. Summar said partnering testing – where a general practitioner contacts a specialist to begin the process of testing based on the suspected condition – is a good stopgap solution. Telemedicine, which rose in popularity during the COVID-19 pandemic, can also play an important role in connecting patients and their providers with rare disease specialists, especially for generalists in remote communities. Dr. Summar noted he continues to see approximately 30% of his patients this way today. Telemedicine appointments can take place in the patient’s home or at the provider’s office.

“It actually provides access to folks who otherwise might not be able to either take off from work for a day – particularly some of our single parent households – or have a child who just doesn’t travel well, or can’t really get there, even if it’s the patient themselves,” he explained. “We can see patients that historically would have had trouble or difficulty coming in, so for me, that’s been a good thing.”

Telemedicine also helps give access to care for more medically fragile patients, many of whom have rare diseases, he added. While some aspects of care need to occur in person, “it’s a good 80% or 90% solution for a lot of these things,” he said.

Sharing educational videos is another way for health care providers in general practice to inform patients and their families about rare diseases. Children’s National Medical Center has created a collection of these videos in a free app called GeneClips, which is available on major smartphone app stores. However, Dr. Summar emphasized that genetic counseling should still be performed by a rare disease specialist prior to testing.

“We’re still at the point where I think having genetic counseling for a family before they’re going into testing is really advisable, since a lot of the results have a probability assigned to them,” he said. “I don’t think we’re really at the level where a practitioner is going to, first of all, have the time to do those, and I don’t think there’s enough general public awareness of what these things mean.”

Although primary care providers may one day be able to perform more generalized sequencing in their own practice, that time has not yet come – but it is closer than you think. “The technology is there, and actually the cost has come down a lot,” said Dr. Summar.

One potential issue this would create is an additional discussion to manage expectations of test results with family when the results are unclear, which “actually takes more time than counseling about a yes or no, or even an outcome that is unexpected,” explained Dr. Summar.

“[W]e’re in a midlife period right now where we’re bringing forward this new technology, but we’ve got to continually prepare the field for it first,” he said. “I think in the future we’ll see that it has much greater utility in the general setting,” he said.


Jeff Craven is a freelance journalist specializing in medicine and health.

Suggested reading

Vandeborne L et al. Information needs of physicians regarding the diagnosis of rare diseases: A questionnaire-based study in Belgium. Orphanet J Rare Dis. 2019;14(1):99.

The number of cataloged rare diseases continues to grow every day. According to the National Human Genome Research Institute, more than 6,800 rare diseases have been identified and between 25 million and 30 million Americans are living with rare diseases today.

Thinking of rare diseases in categories

Many patients with undiagnosed rare diseases undergo what’s commonly referred to as a “diagnostic odyssey,” moving from one provider to another to try to find an explanation for a condition they may or may not know is rare. For some patients, this process can take many years or even decades. From the patient’s perspective, the main challenges are recognizing they have a problem that doesn’t fit a common disease model. Once they recognize they have a potential rare disease, working with a provider to find the right diagnosis among the “vast number of disease diagnoses and designations, and actually sifting through it to find the one that’s right for that patient” is the next challenge, said Dr. Summar.

However, knowledge of rare diseases among health care professionals is low, according to a 2019 paper published in the Orphanet Journal of Rare Diseases. In a survey from that paper asking general practitioners, pediatricians, specialists caring for adults, and specialists caring for children to evaluate their own knowledge of rare diseases, 42% of general practitioners said they had poor knowledge and 44% said they had a substandard understanding of rare diseases.

From a clinician’s standpoint, diagnosing rare diseases in their patients can be challenging, with the potential for overreferral or overdiagnosis. However, it is also easy to underdiagnose rare diseases by missing them, noted Dr. Summar. This issue can vary based on the experience of the provider, he said, because while general practitioners who recently began practicing may have had more exposure to rare diseases, for health care professionals who have been practicing for decades, “this is a new arrival in their field.”

During a busy day finding that extra time in an appointment to stop and question whether a patient might have a rare disease is another problem generalists face. “It is really tough for those general practitioners, because if you see 40 or 50 patients per day, how do you know which one of those [patients] were the ones that had something that wasn’t quite fitting or wasn’t quite ordinary?” he said.

When it comes to considering rare diseases in their patients, health care professionals in general practice should think in categories, rather than a particular rare disease, according to Dr. Summar. As the generalist is typically on the front lines of patient care, they don’t necessarily need to know everything about the rare disease they suspect a patient of having to help them. “You don’t need to know the specific gene and the specific mutation to make the diagnosis, or to even move the patient forward in the process,” he said.

The first steps a clinician can take include noticing when something with a patient is amiss, thinking about the disease category, and then creating a plan to move forward, such as referring the patient to a subspecialist. Learning to recognize when a cluster of symptoms doesn’t fit a pattern is important, as patients and their providers tend to gravitate toward diagnoses they are used to seeing, rather than suspecting a disease outside a usual pattern.

The framing of rare diseases as categories is a change in thinking over the last decade, said Dr. Summar. Whereas rare disease diagnoses previously focused on fitting certain criteria, the development of more refined genetic sequencing has allowed specialists to focus on categories and genes that affect rare diseases. “Getting at a diagnosis has really been turned up on its head, so that by employing both next-generation sequencing, newborn screening, and other [tools], we can actually get to diagnoses faster than we could before,” he said.

In terms of assessing for symptoms, health care professionals should be aware that “common” symptoms can be a sign of rare disease. What to look out for are the uncommon symptoms that create an “aha moment.” Having a “good filter” for sensing when something isn’t quite right with a patient is key. “It’s like any time when you’re screening things: You want high sensitivity, but you also have to have high specificity,” he said.

Another clinical pearl is that good communication between patient and provider is paramount. “We’re not always good listeners. Sometimes we hear what we expect to hear,” said Dr. Summar.
 

Rare disease warning signs

Within the context of rare neurological diseases, Dr. Summar noted one major category is delays in neurological development, which is typically identified in children or adolescents. As the most complex organ in the body, “the brain probably expresses more genes than any other tissue on a regular basis, both in its formation and its function,” said Dr. Summar. He said the single disease that rare disease specialists see most often is Down syndrome.

Another separate but overlapping major category is autism, identified in younger children through trouble with social interaction, lack of eye contact, and delays in speech and communication skills. A third major category is physical manifestations of neurological problems, such as in patients who have epilepsy.

A telltale sign in identifying a child with a potential rare neurological disease is when they are “not thriving in their development or not doing the things on track that you would expect, and you don’t have a really good answer for it,” said Dr. Summar. Generalists are normally on watch for developmental delays in newborns born premature or with a rough course in the nursery, but they should also be aware of delays in children born under otherwise typical circumstances. “If I have a patient who had normal pregnancy, normal labor and delivery, no real illnesses or anything like that, and yet wasn’t meeting those milestones, that’s a patient I would pay attention to,” he said.

Another clue general practitioners can use for suspecting rare diseases is when a patient is much sicker than usual during a routine illness like a cold or flu. “Those are patients we should be paying attention to because it may be there’s an underlying biochemical disorder or some disorder in how they’re responding to stress that’s just not quite right,” said Dr. Summar. How a patient responds to stressful situations can be a warning sign “because that can often unmask more severe symptoms in that rare disease and make it a little more apparent,” he said.
 

Learning more about rare diseases

Dr. Summar said he and his colleagues in the rare disease field have spent a lot of time working with medical schools to teach this mindset in their curricula. The concept is introduced in basic medical science courses and then reinforced in clinical rotations in the third or fourth year, he explained.

“One of the best places is during the pediatrics rotations in medical school,” he said. “Remember, kids are basically healthy. If a child has a chronic illness or a chronic disease, more often than not, it is probably a rare disease.”

For medical professionals not in pediatric practice, the concept is applied the same way for adult medicine. “You just want to make sure everyone takes a second when they have a patient and try not to assume. Don’t assume it’s exactly what it seems. Look at it carefully and make sure there’s not something else going on,” he said.

Health care professionals in general practice looking to learn more about rare diseases can increasingly find rare disease topics in their CME programs. Rare disease topics in CME programs are “one of the best places” to learn about the latest developments in the field, said Dr. Summar.
 

Will rare disease screening tools come to primary care?

Asking more doctors to refer out to rare disease specialists raises an issue: There simply aren’t enough rare disease specialists in the field to go around.

Dr. Summar said partnering testing – where a general practitioner contacts a specialist to begin the process of testing based on the suspected condition – is a good stopgap solution. Telemedicine, which rose in popularity during the COVID-19 pandemic, can also play an important role in connecting patients and their providers with rare disease specialists, especially for generalists in remote communities. Dr. Summar noted he continues to see approximately 30% of his patients this way today. Telemedicine appointments can take place in the patient’s home or at the provider’s office.

“It actually provides access to folks who otherwise might not be able to either take off from work for a day – particularly some of our single parent households – or have a child who just doesn’t travel well, or can’t really get there, even if it’s the patient themselves,” he explained. “We can see patients that historically would have had trouble or difficulty coming in, so for me, that’s been a good thing.”

Telemedicine also helps give access to care for more medically fragile patients, many of whom have rare diseases, he added. While some aspects of care need to occur in person, “it’s a good 80% or 90% solution for a lot of these things,” he said.

Sharing educational videos is another way for health care providers in general practice to inform patients and their families about rare diseases. Children’s National Medical Center has created a collection of these videos in a free app called GeneClips, which is available on major smartphone app stores. However, Dr. Summar emphasized that genetic counseling should still be performed by a rare disease specialist prior to testing.

“We’re still at the point where I think having genetic counseling for a family before they’re going into testing is really advisable, since a lot of the results have a probability assigned to them,” he said. “I don’t think we’re really at the level where a practitioner is going to, first of all, have the time to do those, and I don’t think there’s enough general public awareness of what these things mean.”

Although primary care providers may one day be able to perform more generalized sequencing in their own practice, that time has not yet come – but it is closer than you think. “The technology is there, and actually the cost has come down a lot,” said Dr. Summar.

One potential issue this would create is an additional discussion to manage expectations of test results with family when the results are unclear, which “actually takes more time than counseling about a yes or no, or even an outcome that is unexpected,” explained Dr. Summar.

“[W]e’re in a midlife period right now where we’re bringing forward this new technology, but we’ve got to continually prepare the field for it first,” he said. “I think in the future we’ll see that it has much greater utility in the general setting,” he said.


Jeff Craven is a freelance journalist specializing in medicine and health.

Suggested reading

Vandeborne L et al. Information needs of physicians regarding the diagnosis of rare diseases: A questionnaire-based study in Belgium. Orphanet J Rare Dis. 2019;14(1):99.