During AGA’s annual Joint Committee weekend, 55 AGA members collectively attended 79 meetings with staff from the offices of their House representatives and senators, lobbying for the top concerns of gastroenterologists across the country, including:

• Continued coverage of patients through either the Affordable Care Act or another bill that has the patient’s best interests in mind. More specifically, one that provides coverage for those with pre-existing conditions and for children under their parents’ plan until 26 years of age, among many other important provisions.
• Changes in health care language that label a colonoscopy for cancer screening as “therapeutic,” which renders a large copay for patients.
• Increased funding for the NIH.

Participants shared experiences from their time on Capitol Hill in the AGA Community forum, and encouraged others to get involved. Here are some of their reasons why.

• Your voice matters: You are constituents – which translates to votes in the minds of representatives and senators – and providing face-to-face conversation with their staffers shows them that you care about your patients and their needs, explains Siddharth Singh, MD.
• Being consistent gets your foot in the door: Some staffers recognized and remembered previous Advocacy Day participants, like Peter Liang, MD, MPH. Personally connecting could lead to follow-up communication and advocacy efforts, says Sarah Streett, MD, AGAF.
• You’re indirectly (and sometimes directly) connecting with decision makers: Staff members from these offices work closely with the legislators who evaluate which policies to support or oppose. “So it’s important to come to Washington, build relationships, and make the case for our science, our specialty, and our patients,” says Kim Barrett, PhD, AGAF.
• Others could be advocating against you on the same issues: “I very strongly believe that it is important to keep letting our legislators know how we feel and what we believe in,” shares Deborah Proctor, MD, AGAF.
• It’s a rewarding experience: “Voice [your] concerns to your representatives who embrace the stories of how their decisions and policies affect your patients, practice, research, and institution,” explains Susan Ramdhaney, MD, AGAF.
• It’s a critical time to take action: With the current health care environment, gastroenterologists need to express the needs of their patients and profession, Dr. Streett explains.

View the full discussion and read updates from colleagues who visited with legislative staffers from California, New York, North Carolina, and Oregon in the forum, community.gastro.org.

Please contact [email protected].
 

[email protected]

During AGA’s annual Joint Committee weekend, 55 AGA members collectively attended 79 meetings with staff from the offices of their House representatives and senators, lobbying for the top concerns of gastroenterologists across the country, including:

• Continued coverage of patients through either the Affordable Care Act or another bill that has the patient’s best interests in mind. More specifically, one that provides coverage for those with pre-existing conditions and for children under their parents’ plan until 26 years of age, among many other important provisions.
• Changes in health care language that label a colonoscopy for cancer screening as “therapeutic,” which renders a large copay for patients.
• Increased funding for the NIH.

Participants shared experiences from their time on Capitol Hill in the AGA Community forum, and encouraged others to get involved. Here are some of their reasons why.

• Your voice matters: You are constituents – which translates to votes in the minds of representatives and senators – and providing face-to-face conversation with their staffers shows them that you care about your patients and their needs, explains Siddharth Singh, MD.
• Being consistent gets your foot in the door: Some staffers recognized and remembered previous Advocacy Day participants, like Peter Liang, MD, MPH. Personally connecting could lead to follow-up communication and advocacy efforts, says Sarah Streett, MD, AGAF.
• You’re indirectly (and sometimes directly) connecting with decision makers: Staff members from these offices work closely with the legislators who evaluate which policies to support or oppose. “So it’s important to come to Washington, build relationships, and make the case for our science, our specialty, and our patients,” says Kim Barrett, PhD, AGAF.
• Others could be advocating against you on the same issues: “I very strongly believe that it is important to keep letting our legislators know how we feel and what we believe in,” shares Deborah Proctor, MD, AGAF.
• It’s a rewarding experience: “Voice [your] concerns to your representatives who embrace the stories of how their decisions and policies affect your patients, practice, research, and institution,” explains Susan Ramdhaney, MD, AGAF.
• It’s a critical time to take action: With the current health care environment, gastroenterologists need to express the needs of their patients and profession, Dr. Streett explains.

View the full discussion and read updates from colleagues who visited with legislative staffers from California, New York, North Carolina, and Oregon in the forum, community.gastro.org.

Please contact [email protected].
 

[email protected]

During AGA’s annual Joint Committee weekend, 55 AGA members collectively attended 79 meetings with staff from the offices of their House representatives and senators, lobbying for the top concerns of gastroenterologists across the country, including:

• Continued coverage of patients through either the Affordable Care Act or another bill that has the patient’s best interests in mind. More specifically, one that provides coverage for those with pre-existing conditions and for children under their parents’ plan until 26 years of age, among many other important provisions.
• Changes in health care language that label a colonoscopy for cancer screening as “therapeutic,” which renders a large copay for patients.
• Increased funding for the NIH.

Participants shared experiences from their time on Capitol Hill in the AGA Community forum, and encouraged others to get involved. Here are some of their reasons why.

• Your voice matters: You are constituents – which translates to votes in the minds of representatives and senators – and providing face-to-face conversation with their staffers shows them that you care about your patients and their needs, explains Siddharth Singh, MD.
• Being consistent gets your foot in the door: Some staffers recognized and remembered previous Advocacy Day participants, like Peter Liang, MD, MPH. Personally connecting could lead to follow-up communication and advocacy efforts, says Sarah Streett, MD, AGAF.
• You’re indirectly (and sometimes directly) connecting with decision makers: Staff members from these offices work closely with the legislators who evaluate which policies to support or oppose. “So it’s important to come to Washington, build relationships, and make the case for our science, our specialty, and our patients,” says Kim Barrett, PhD, AGAF.
• Others could be advocating against you on the same issues: “I very strongly believe that it is important to keep letting our legislators know how we feel and what we believe in,” shares Deborah Proctor, MD, AGAF.
• It’s a rewarding experience: “Voice [your] concerns to your representatives who embrace the stories of how their decisions and policies affect your patients, practice, research, and institution,” explains Susan Ramdhaney, MD, AGAF.
• It’s a critical time to take action: With the current health care environment, gastroenterologists need to express the needs of their patients and profession, Dr. Streett explains.

View the full discussion and read updates from colleagues who visited with legislative staffers from California, New York, North Carolina, and Oregon in the forum, community.gastro.org.

Please contact [email protected].
 

[email protected]

CHICAGO – Nearly half of all children have wheezing in their first year of life, and one in five have recurrent wheezing episodes, but that doesn’t mean they have asthma, explained Erik Hysinger, MD, MS, of the division of pulmonary medicine at Cincinnati Children’s Hospital.

Localized wheezing is not consistent with asthmatic or viral wheezing, which is typically diffuse and polyphonic, Dr. Hysinger emphasized at the annual meeting of the American Academy of Pediatrics.

“Localized wheezing is less common than diffuse wheezing and typically has a homophonous sound,” Dr. Hysinger said. It also usually arises from a central airway pathology. “High flow rates create loud amplitude sounds.”

iStock/Thinkstock

Airway occlusion diagnoses

Four potential causes of an airway blockage are a foreign body, a bronchial cast, mucous plugs, or airway tumors.

A foreign body typically occurs with a cough, wheezing, stridor, and respiratory distress. It is most common in children under age 4 years, usually in those without a history of aspiration, yet providers initially misdiagnose more than 20% of patients with a foreign body. The foreign object – often coins, food, or batteries – frequently ends up in the right main bronchus and may go undetected up to a month, potentially leading to pneumonia, abscess, atelectasis, bronchiectasis, or airway erosion.

Airway narrowing diagnoses

Two possible diagnoses for an intrinsic airway narrowing include bronchomalacia, occurring in only 1 of 2,100 children, and bronchial stenosis.

In bronchomalacia – diagnosed primarily with bronchoscopy – the airway collapses from weakening of the cartilage and posterior membrane. Bronchomalacia sounds like homophonous wheezing with a barky or brassy cough, and it’s frequently accompanied by recurrent bronchitis and/or pneumonia. Intervention is rarely necessary when occurring on its own, but severe cases may require endobronchial stents. Dr. Hysinger also recommended considering ipratroprium instead of albuterol.

Bronchial stenosis involves a fixed narrowing of the bronchi and can be congenital – typically occurring with heart disease – or acquired after an intubation and suction trauma or bronchiolitis obliterans (“popcorn lung”). A chest x-ray and bronchoscopy again are standard, but MRI may be necessary as well. Aside from helping the patient clear the airway, bronchial stenosis typically needs limited management unless the patient is symptomatic. In that case, options include balloon dilation, endobronchial stents, or a slide bronchoplasty.

Airway compression diagnoses

An extrinsic airway compression could have a vascular cause or could result from pressure by an extrinsic mass or the axial skeleton.

Vascular compression usually occurs due to abnormal vasculature development, particularly with vascular stents, Dr. Hysinger said. The wheezing presents with stridor, feeding intolerance, recurrent infections, and cyanotic episodes. The work-up should include a chest x-ray, bronchoscopy, and a chest CT and/or MRI. A variety of interventions may be necessary to treat it, including an aortopexy, pulmonary artery trunk–pexy, arterioplasty, vessel implantation, or endobronchial stent. Residual malacia may remain after treatment, however.

The most common reasons for airway compression by some kind of mass is a reactive lymphadenopathy, a tumor, or an infection, including tuberculosis or histoplasmosis. Severe narrowing of the airway can lead to respiratory failure, but because the compression can develop slowly, the wheezing can be mistaken for asthma. In addition to a chest CT and bronchoscopy, a patient will need other work-ups depending on the cause. Possibilities include a biopsy, a gastric aspirate (for tuberculosis), a bronchoalveolar lavage, or antibody titers.

Similarly, because therapeutic intervention requires treating the underlying infection, specific treatments will vary. Tumors typically will need resection, chemotherapy, and/or radiation – and, until the airway is fully cleared, the patient may need chronic mechanical ventilation.

Children with severe scoliosis or kyphosis are those most likely to experience airway compression resulting from pressure by the axial skeleton, in which the spine’s curvature directly presses on the airway. In addition to the wheeze, these patients may have respiratory distress or recurrent focal pneumonia, Dr. Hysinger said. The standard work-up involves a chest x-ray, chest CT, spinal MRI, and bronchoscopy.

Consider using spinal rods, but they can both help the condition or potentially exacerbate the compression, Dr. Hysinger said. Either way, children also will need help with airway clearance and coughing.

Dr. Hysinger concluded by reviewing what you may consider changing in your current practice, including the initial trial of bronchodilators, a chest x-ray, and a subspecialist referral.

No funding was used for this presentation, and Dr. Hysinger reported having no relevant financial disclosures.

[email protected]

CHICAGO – Nearly half of all children have wheezing in their first year of life, and one in five have recurrent wheezing episodes, but that doesn’t mean they have asthma, explained Erik Hysinger, MD, MS, of the division of pulmonary medicine at Cincinnati Children’s Hospital.

Localized wheezing is not consistent with asthmatic or viral wheezing, which is typically diffuse and polyphonic, Dr. Hysinger emphasized at the annual meeting of the American Academy of Pediatrics.

“Localized wheezing is less common than diffuse wheezing and typically has a homophonous sound,” Dr. Hysinger said. It also usually arises from a central airway pathology. “High flow rates create loud amplitude sounds.”

iStock/Thinkstock

Airway occlusion diagnoses

Four potential causes of an airway blockage are a foreign body, a bronchial cast, mucous plugs, or airway tumors.

A foreign body typically occurs with a cough, wheezing, stridor, and respiratory distress. It is most common in children under age 4 years, usually in those without a history of aspiration, yet providers initially misdiagnose more than 20% of patients with a foreign body. The foreign object – often coins, food, or batteries – frequently ends up in the right main bronchus and may go undetected up to a month, potentially leading to pneumonia, abscess, atelectasis, bronchiectasis, or airway erosion.

Airway narrowing diagnoses

Two possible diagnoses for an intrinsic airway narrowing include bronchomalacia, occurring in only 1 of 2,100 children, and bronchial stenosis.

In bronchomalacia – diagnosed primarily with bronchoscopy – the airway collapses from weakening of the cartilage and posterior membrane. Bronchomalacia sounds like homophonous wheezing with a barky or brassy cough, and it’s frequently accompanied by recurrent bronchitis and/or pneumonia. Intervention is rarely necessary when occurring on its own, but severe cases may require endobronchial stents. Dr. Hysinger also recommended considering ipratroprium instead of albuterol.

Bronchial stenosis involves a fixed narrowing of the bronchi and can be congenital – typically occurring with heart disease – or acquired after an intubation and suction trauma or bronchiolitis obliterans (“popcorn lung”). A chest x-ray and bronchoscopy again are standard, but MRI may be necessary as well. Aside from helping the patient clear the airway, bronchial stenosis typically needs limited management unless the patient is symptomatic. In that case, options include balloon dilation, endobronchial stents, or a slide bronchoplasty.

Airway compression diagnoses

An extrinsic airway compression could have a vascular cause or could result from pressure by an extrinsic mass or the axial skeleton.

Vascular compression usually occurs due to abnormal vasculature development, particularly with vascular stents, Dr. Hysinger said. The wheezing presents with stridor, feeding intolerance, recurrent infections, and cyanotic episodes. The work-up should include a chest x-ray, bronchoscopy, and a chest CT and/or MRI. A variety of interventions may be necessary to treat it, including an aortopexy, pulmonary artery trunk–pexy, arterioplasty, vessel implantation, or endobronchial stent. Residual malacia may remain after treatment, however.

The most common reasons for airway compression by some kind of mass is a reactive lymphadenopathy, a tumor, or an infection, including tuberculosis or histoplasmosis. Severe narrowing of the airway can lead to respiratory failure, but because the compression can develop slowly, the wheezing can be mistaken for asthma. In addition to a chest CT and bronchoscopy, a patient will need other work-ups depending on the cause. Possibilities include a biopsy, a gastric aspirate (for tuberculosis), a bronchoalveolar lavage, or antibody titers.

Similarly, because therapeutic intervention requires treating the underlying infection, specific treatments will vary. Tumors typically will need resection, chemotherapy, and/or radiation – and, until the airway is fully cleared, the patient may need chronic mechanical ventilation.

Children with severe scoliosis or kyphosis are those most likely to experience airway compression resulting from pressure by the axial skeleton, in which the spine’s curvature directly presses on the airway. In addition to the wheeze, these patients may have respiratory distress or recurrent focal pneumonia, Dr. Hysinger said. The standard work-up involves a chest x-ray, chest CT, spinal MRI, and bronchoscopy.

Consider using spinal rods, but they can both help the condition or potentially exacerbate the compression, Dr. Hysinger said. Either way, children also will need help with airway clearance and coughing.

Dr. Hysinger concluded by reviewing what you may consider changing in your current practice, including the initial trial of bronchodilators, a chest x-ray, and a subspecialist referral.

No funding was used for this presentation, and Dr. Hysinger reported having no relevant financial disclosures.

[email protected]

CHICAGO – Nearly half of all children have wheezing in their first year of life, and one in five have recurrent wheezing episodes, but that doesn’t mean they have asthma, explained Erik Hysinger, MD, MS, of the division of pulmonary medicine at Cincinnati Children’s Hospital.

Localized wheezing is not consistent with asthmatic or viral wheezing, which is typically diffuse and polyphonic, Dr. Hysinger emphasized at the annual meeting of the American Academy of Pediatrics.

“Localized wheezing is less common than diffuse wheezing and typically has a homophonous sound,” Dr. Hysinger said. It also usually arises from a central airway pathology. “High flow rates create loud amplitude sounds.”

iStock/Thinkstock

Airway occlusion diagnoses

Four potential causes of an airway blockage are a foreign body, a bronchial cast, mucous plugs, or airway tumors.

A foreign body typically occurs with a cough, wheezing, stridor, and respiratory distress. It is most common in children under age 4 years, usually in those without a history of aspiration, yet providers initially misdiagnose more than 20% of patients with a foreign body. The foreign object – often coins, food, or batteries – frequently ends up in the right main bronchus and may go undetected up to a month, potentially leading to pneumonia, abscess, atelectasis, bronchiectasis, or airway erosion.

Airway narrowing diagnoses

Two possible diagnoses for an intrinsic airway narrowing include bronchomalacia, occurring in only 1 of 2,100 children, and bronchial stenosis.

In bronchomalacia – diagnosed primarily with bronchoscopy – the airway collapses from weakening of the cartilage and posterior membrane. Bronchomalacia sounds like homophonous wheezing with a barky or brassy cough, and it’s frequently accompanied by recurrent bronchitis and/or pneumonia. Intervention is rarely necessary when occurring on its own, but severe cases may require endobronchial stents. Dr. Hysinger also recommended considering ipratroprium instead of albuterol.

Bronchial stenosis involves a fixed narrowing of the bronchi and can be congenital – typically occurring with heart disease – or acquired after an intubation and suction trauma or bronchiolitis obliterans (“popcorn lung”). A chest x-ray and bronchoscopy again are standard, but MRI may be necessary as well. Aside from helping the patient clear the airway, bronchial stenosis typically needs limited management unless the patient is symptomatic. In that case, options include balloon dilation, endobronchial stents, or a slide bronchoplasty.

Airway compression diagnoses

An extrinsic airway compression could have a vascular cause or could result from pressure by an extrinsic mass or the axial skeleton.

Vascular compression usually occurs due to abnormal vasculature development, particularly with vascular stents, Dr. Hysinger said. The wheezing presents with stridor, feeding intolerance, recurrent infections, and cyanotic episodes. The work-up should include a chest x-ray, bronchoscopy, and a chest CT and/or MRI. A variety of interventions may be necessary to treat it, including an aortopexy, pulmonary artery trunk–pexy, arterioplasty, vessel implantation, or endobronchial stent. Residual malacia may remain after treatment, however.

The most common reasons for airway compression by some kind of mass is a reactive lymphadenopathy, a tumor, or an infection, including tuberculosis or histoplasmosis. Severe narrowing of the airway can lead to respiratory failure, but because the compression can develop slowly, the wheezing can be mistaken for asthma. In addition to a chest CT and bronchoscopy, a patient will need other work-ups depending on the cause. Possibilities include a biopsy, a gastric aspirate (for tuberculosis), a bronchoalveolar lavage, or antibody titers.

Similarly, because therapeutic intervention requires treating the underlying infection, specific treatments will vary. Tumors typically will need resection, chemotherapy, and/or radiation – and, until the airway is fully cleared, the patient may need chronic mechanical ventilation.

Children with severe scoliosis or kyphosis are those most likely to experience airway compression resulting from pressure by the axial skeleton, in which the spine’s curvature directly presses on the airway. In addition to the wheeze, these patients may have respiratory distress or recurrent focal pneumonia, Dr. Hysinger said. The standard work-up involves a chest x-ray, chest CT, spinal MRI, and bronchoscopy.

Consider using spinal rods, but they can both help the condition or potentially exacerbate the compression, Dr. Hysinger said. Either way, children also will need help with airway clearance and coughing.

Dr. Hysinger concluded by reviewing what you may consider changing in your current practice, including the initial trial of bronchodilators, a chest x-ray, and a subspecialist referral.

No funding was used for this presentation, and Dr. Hysinger reported having no relevant financial disclosures.

[email protected]

The progression of Parkinson’s disease over 2 years takes a toll on the driving skills of even drivers who initially perform as well as healthy age-matched drivers, according to a longitudinal cohort study conducted by Urgun Uc, MD, and associates.

While some patients with Parkinson’s disease who took part in a test of driving skills on a standardized driving course performed significantly worse at a baseline assessment than did healthy control patients, the patients who performed at a similar level as the control group made a significantly higher number of driving mistakes 2 years later on a follow-up evaluation.

Michael Shake/Fotolia.com

[email protected]

The progression of Parkinson’s disease over 2 years takes a toll on the driving skills of even drivers who initially perform as well as healthy age-matched drivers, according to a longitudinal cohort study conducted by Urgun Uc, MD, and associates.

While some patients with Parkinson’s disease who took part in a test of driving skills on a standardized driving course performed significantly worse at a baseline assessment than did healthy control patients, the patients who performed at a similar level as the control group made a significantly higher number of driving mistakes 2 years later on a follow-up evaluation.

Michael Shake/Fotolia.com

[email protected]

The progression of Parkinson’s disease over 2 years takes a toll on the driving skills of even drivers who initially perform as well as healthy age-matched drivers, according to a longitudinal cohort study conducted by Urgun Uc, MD, and associates.

While some patients with Parkinson’s disease who took part in a test of driving skills on a standardized driving course performed significantly worse at a baseline assessment than did healthy control patients, the patients who performed at a similar level as the control group made a significantly higher number of driving mistakes 2 years later on a follow-up evaluation.

Michael Shake/Fotolia.com

[email protected]

BERLIN – A vision perceived during America’s Great Depression has come to fruition across the globe, putting mental illness at the center of a devastating web of personal and economic costs.

In the 1930s, the Rockefeller Foundation’s director of medical science, Alan Gregg, MD, distilled an important notion from his decades of travel providing health care and advice to developing nations. As poor countries became richer, infectious diseases that had long ravaged their populations came under control. As people lived longer, however, they became subject to other disorders: chronic age-related illnesses for the old and, for the young, mental illnesses.

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

[email protected]

BERLIN – A vision perceived during America’s Great Depression has come to fruition across the globe, putting mental illness at the center of a devastating web of personal and economic costs.

In the 1930s, the Rockefeller Foundation’s director of medical science, Alan Gregg, MD, distilled an important notion from his decades of travel providing health care and advice to developing nations. As poor countries became richer, infectious diseases that had long ravaged their populations came under control. As people lived longer, however, they became subject to other disorders: chronic age-related illnesses for the old and, for the young, mental illnesses.

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

[email protected]

BERLIN – A vision perceived during America’s Great Depression has come to fruition across the globe, putting mental illness at the center of a devastating web of personal and economic costs.

In the 1930s, the Rockefeller Foundation’s director of medical science, Alan Gregg, MD, distilled an important notion from his decades of travel providing health care and advice to developing nations. As poor countries became richer, infectious diseases that had long ravaged their populations came under control. As people lived longer, however, they became subject to other disorders: chronic age-related illnesses for the old and, for the young, mental illnesses.

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

Institute for Health Metrics and Evaluation

[email protected]

SAN DIEGO – A review of care for neonates born with neonatal abstinence syndrome (NAS) found that screening for hepatitis C virus (HCV) infection is low, based on Medicaid data from the state of Kentucky.

“These children are at high risk for HCV, and the screening rate should really be 100%. We think that it is important to get the message out there,” said Michael Smith, MD, of the department of pediatrics at the Duke University, Durham, N.C.

Jarun011/Thinkstock

SAN DIEGO – A review of care for neonates born with neonatal abstinence syndrome (NAS) found that screening for hepatitis C virus (HCV) infection is low, based on Medicaid data from the state of Kentucky.

“These children are at high risk for HCV, and the screening rate should really be 100%. We think that it is important to get the message out there,” said Michael Smith, MD, of the department of pediatrics at the Duke University, Durham, N.C.

Jarun011/Thinkstock

SAN DIEGO – A review of care for neonates born with neonatal abstinence syndrome (NAS) found that screening for hepatitis C virus (HCV) infection is low, based on Medicaid data from the state of Kentucky.

“These children are at high risk for HCV, and the screening rate should really be 100%. We think that it is important to get the message out there,” said Michael Smith, MD, of the department of pediatrics at the Duke University, Durham, N.C.

Jarun011/Thinkstock

BARCELONA – Improvements in percutaneous coronary intervention over the past decade have made a difference. Coronary stenting to treat triple-vessel disease produced roughly the same 1-year results as coronary artery bypass surgery, based on results from 454 patients in an uncontrolled, prospective trial.

With state-of-the-art percutaneous coronary intervention (PCI), the 1-year incidence of major cardiac and cerebrovascular events was 11% in the Synergy Between PCI with Taxus and Cardiac Surgery (SYNTAX) II trial, a PCI outcome substantially better than the 18% rate with PCI seen in the original SYNTAX trial, run during 2005-2007. That incidence was similar to the 11% 1-year major adverse event rate seen in patients who underwent coronary artery bypass grafting (CABG) in the first SYNTAX trial (N Engl J Med. 2009 Mar 5;360[10]:961-72), said Javier Escaned, MD, who reported the results at the annual congress of the European Society of Cardiology.

Mitchel L. Zoler/Frontline Medical News

• Initial assessment of patients using both clinical and anatomic criteria with the SYNTAX score II (Lancet. 2013 Feb 23;381[9867]:639-50), an improvement over the original SYNTAX score that only used anatomic data.
• Assessment of each coronary stenosis for its physiologic impact using a pressure wire to measure the instantaneous wave-free ratio and fractional flow reserve of each suspicious lesion.
• Performing PCI with a second-generation everolimus-eluting stent with a bioabsorbable polymer stent (Synergy) instead of the paclitaxel-eluting first-generation stent (Taxus) used in the first SYNTAX trial.
• Optimization of stent placement with intravascular ultrasound.
• Application of contemporary methods for treating total chronic occlusions that produce higher success rates than a decade ago.
• Prescription of current guideline-directed medical therapy to each patient following PCI.

“To get the best results you need to do all of this; none of these steps takes full credit by itself,” said Dr. Escaned, an interventional cardiologist at the Hospital Clinic San Carlos in Madrid. “The message from SYNTAX II is that if you put all of these steps together, this is the result,” he said in an interview.

An underlying assumption of the single-arm design of SYNTAX II and its “exploratory” comparison to a 334-patient subset of the 897 patients who underwent CABG in the original SYNTAX trial who retrospectively met the SYNTAX score II enrollment criteria used in the current trial was that “CABG has not changed much” since the first SYNTAX trial, Dr. Escaned said. Although he acknowledged that some progress also occurred with CABG in the subsequent 10 years, “it has not been as big a change” as going to second-generation drug-eluting stents, using a pressure wire assessment to target physiologically important stenoses, and improved techniques for treating chronic total occlusions that have nearly doubled success rates in patients with these lesions.

The SYNTAX II trial enrolled 454 patients with de novo triple-vessel coronary disease without left main stem involvement at 22 centers in four European countries during 2014 and 2015. The improvement in the primary 1-year endpoint in the current patients compared with PCI patients from the first SYNTAX trial was driven primarily by reductions in MI and in repeat revascularizations. The SYNTAX II patients also had a 0.7% rate of definite stent thrombosis events, compared with a 2.4% rate in the original SYNTAX PCI patients, a statistically significant difference. Concurrently with Dr. Escaned’s report at the meeting an article with the results appeared online (Eur Heart J. 2017 Aug 26;doi: 10.1093/eurheartj/ehx512).

Dr. Escaned cautioned that longer-term follow-up is needed to more fully compare the PCI results with CABG.

SYNTAX II received unrestricted grant support from Philips/Volcano and Boston Scientific, the companies that market the pressure wires and stents used in the study. Dr. Escaned reported ties to Abbott, AstraZeneca, Biosensors, Boston Scientific, Medtronic, OrbusNeich, Philips/Volcano, and Boston Scientific.

[email protected]

On Twitter @mitchelzoler

BARCELONA – Improvements in percutaneous coronary intervention over the past decade have made a difference. Coronary stenting to treat triple-vessel disease produced roughly the same 1-year results as coronary artery bypass surgery, based on results from 454 patients in an uncontrolled, prospective trial.

With state-of-the-art percutaneous coronary intervention (PCI), the 1-year incidence of major cardiac and cerebrovascular events was 11% in the Synergy Between PCI with Taxus and Cardiac Surgery (SYNTAX) II trial, a PCI outcome substantially better than the 18% rate with PCI seen in the original SYNTAX trial, run during 2005-2007. That incidence was similar to the 11% 1-year major adverse event rate seen in patients who underwent coronary artery bypass grafting (CABG) in the first SYNTAX trial (N Engl J Med. 2009 Mar 5;360[10]:961-72), said Javier Escaned, MD, who reported the results at the annual congress of the European Society of Cardiology.

Mitchel L. Zoler/Frontline Medical News

• Initial assessment of patients using both clinical and anatomic criteria with the SYNTAX score II (Lancet. 2013 Feb 23;381[9867]:639-50), an improvement over the original SYNTAX score that only used anatomic data.
• Assessment of each coronary stenosis for its physiologic impact using a pressure wire to measure the instantaneous wave-free ratio and fractional flow reserve of each suspicious lesion.
• Performing PCI with a second-generation everolimus-eluting stent with a bioabsorbable polymer stent (Synergy) instead of the paclitaxel-eluting first-generation stent (Taxus) used in the first SYNTAX trial.
• Optimization of stent placement with intravascular ultrasound.
• Application of contemporary methods for treating total chronic occlusions that produce higher success rates than a decade ago.
• Prescription of current guideline-directed medical therapy to each patient following PCI.

“To get the best results you need to do all of this; none of these steps takes full credit by itself,” said Dr. Escaned, an interventional cardiologist at the Hospital Clinic San Carlos in Madrid. “The message from SYNTAX II is that if you put all of these steps together, this is the result,” he said in an interview.

An underlying assumption of the single-arm design of SYNTAX II and its “exploratory” comparison to a 334-patient subset of the 897 patients who underwent CABG in the original SYNTAX trial who retrospectively met the SYNTAX score II enrollment criteria used in the current trial was that “CABG has not changed much” since the first SYNTAX trial, Dr. Escaned said. Although he acknowledged that some progress also occurred with CABG in the subsequent 10 years, “it has not been as big a change” as going to second-generation drug-eluting stents, using a pressure wire assessment to target physiologically important stenoses, and improved techniques for treating chronic total occlusions that have nearly doubled success rates in patients with these lesions.

The SYNTAX II trial enrolled 454 patients with de novo triple-vessel coronary disease without left main stem involvement at 22 centers in four European countries during 2014 and 2015. The improvement in the primary 1-year endpoint in the current patients compared with PCI patients from the first SYNTAX trial was driven primarily by reductions in MI and in repeat revascularizations. The SYNTAX II patients also had a 0.7% rate of definite stent thrombosis events, compared with a 2.4% rate in the original SYNTAX PCI patients, a statistically significant difference. Concurrently with Dr. Escaned’s report at the meeting an article with the results appeared online (Eur Heart J. 2017 Aug 26;doi: 10.1093/eurheartj/ehx512).

Dr. Escaned cautioned that longer-term follow-up is needed to more fully compare the PCI results with CABG.

SYNTAX II received unrestricted grant support from Philips/Volcano and Boston Scientific, the companies that market the pressure wires and stents used in the study. Dr. Escaned reported ties to Abbott, AstraZeneca, Biosensors, Boston Scientific, Medtronic, OrbusNeich, Philips/Volcano, and Boston Scientific.

[email protected]

On Twitter @mitchelzoler

BARCELONA – Improvements in percutaneous coronary intervention over the past decade have made a difference. Coronary stenting to treat triple-vessel disease produced roughly the same 1-year results as coronary artery bypass surgery, based on results from 454 patients in an uncontrolled, prospective trial.

With state-of-the-art percutaneous coronary intervention (PCI), the 1-year incidence of major cardiac and cerebrovascular events was 11% in the Synergy Between PCI with Taxus and Cardiac Surgery (SYNTAX) II trial, a PCI outcome substantially better than the 18% rate with PCI seen in the original SYNTAX trial, run during 2005-2007. That incidence was similar to the 11% 1-year major adverse event rate seen in patients who underwent coronary artery bypass grafting (CABG) in the first SYNTAX trial (N Engl J Med. 2009 Mar 5;360[10]:961-72), said Javier Escaned, MD, who reported the results at the annual congress of the European Society of Cardiology.

Mitchel L. Zoler/Frontline Medical News

• Initial assessment of patients using both clinical and anatomic criteria with the SYNTAX score II (Lancet. 2013 Feb 23;381[9867]:639-50), an improvement over the original SYNTAX score that only used anatomic data.
• Assessment of each coronary stenosis for its physiologic impact using a pressure wire to measure the instantaneous wave-free ratio and fractional flow reserve of each suspicious lesion.
• Performing PCI with a second-generation everolimus-eluting stent with a bioabsorbable polymer stent (Synergy) instead of the paclitaxel-eluting first-generation stent (Taxus) used in the first SYNTAX trial.
• Optimization of stent placement with intravascular ultrasound.
• Application of contemporary methods for treating total chronic occlusions that produce higher success rates than a decade ago.
• Prescription of current guideline-directed medical therapy to each patient following PCI.

“To get the best results you need to do all of this; none of these steps takes full credit by itself,” said Dr. Escaned, an interventional cardiologist at the Hospital Clinic San Carlos in Madrid. “The message from SYNTAX II is that if you put all of these steps together, this is the result,” he said in an interview.

An underlying assumption of the single-arm design of SYNTAX II and its “exploratory” comparison to a 334-patient subset of the 897 patients who underwent CABG in the original SYNTAX trial who retrospectively met the SYNTAX score II enrollment criteria used in the current trial was that “CABG has not changed much” since the first SYNTAX trial, Dr. Escaned said. Although he acknowledged that some progress also occurred with CABG in the subsequent 10 years, “it has not been as big a change” as going to second-generation drug-eluting stents, using a pressure wire assessment to target physiologically important stenoses, and improved techniques for treating chronic total occlusions that have nearly doubled success rates in patients with these lesions.

The SYNTAX II trial enrolled 454 patients with de novo triple-vessel coronary disease without left main stem involvement at 22 centers in four European countries during 2014 and 2015. The improvement in the primary 1-year endpoint in the current patients compared with PCI patients from the first SYNTAX trial was driven primarily by reductions in MI and in repeat revascularizations. The SYNTAX II patients also had a 0.7% rate of definite stent thrombosis events, compared with a 2.4% rate in the original SYNTAX PCI patients, a statistically significant difference. Concurrently with Dr. Escaned’s report at the meeting an article with the results appeared online (Eur Heart J. 2017 Aug 26;doi: 10.1093/eurheartj/ehx512).

Dr. Escaned cautioned that longer-term follow-up is needed to more fully compare the PCI results with CABG.

SYNTAX II received unrestricted grant support from Philips/Volcano and Boston Scientific, the companies that market the pressure wires and stents used in the study. Dr. Escaned reported ties to Abbott, AstraZeneca, Biosensors, Boston Scientific, Medtronic, OrbusNeich, Philips/Volcano, and Boston Scientific.

[email protected]

On Twitter @mitchelzoler

The U.S. is facing an opioid epidemic – 91 Americans die every day from an opioid overdose. While all health care professionals should remain up to date on the risks associated with opioids, it is as important for GIs to understand how opioids can affect diverse parts of the gastrointestinal tract. Patients can experience GI symptoms and side effects related to the intake of opioids, including opioid-induced constipation (OIC), esophageal dysmotility, and delayed gastric emptying, according to a new AGA Clinical Practice Update published in the September 2017 issue of Clinical Gastroenterology and Hepatology.

Because of the common use of opioid medications to treat chronic pain, the authors recommend that physicians should first consider whether any gastrointestinal symptoms are directly related to the intake of opioids. In acute administration of opioids, symptomatic remedies should be used to counter the pharmacologic effects. For OIC, the bowel function index – a clinician assessment tool to appraise severity and responsiveness to current treatment – should be used to identify chronic OIC that is not responding to first-line therapies.

The clinical practice update also outlines:

• Pharmacologic effects of opiates in different regions of the gastrointestinal tract.
• Therapeutic uses of opioid receptor agonists and antagonists in gastroenterology.
• Prevention and treatment of OIC.

[email protected]

The U.S. is facing an opioid epidemic – 91 Americans die every day from an opioid overdose. While all health care professionals should remain up to date on the risks associated with opioids, it is as important for GIs to understand how opioids can affect diverse parts of the gastrointestinal tract. Patients can experience GI symptoms and side effects related to the intake of opioids, including opioid-induced constipation (OIC), esophageal dysmotility, and delayed gastric emptying, according to a new AGA Clinical Practice Update published in the September 2017 issue of Clinical Gastroenterology and Hepatology.

Because of the common use of opioid medications to treat chronic pain, the authors recommend that physicians should first consider whether any gastrointestinal symptoms are directly related to the intake of opioids. In acute administration of opioids, symptomatic remedies should be used to counter the pharmacologic effects. For OIC, the bowel function index – a clinician assessment tool to appraise severity and responsiveness to current treatment – should be used to identify chronic OIC that is not responding to first-line therapies.

The clinical practice update also outlines:

• Pharmacologic effects of opiates in different regions of the gastrointestinal tract.
• Therapeutic uses of opioid receptor agonists and antagonists in gastroenterology.
• Prevention and treatment of OIC.

[email protected]

The U.S. is facing an opioid epidemic – 91 Americans die every day from an opioid overdose. While all health care professionals should remain up to date on the risks associated with opioids, it is as important for GIs to understand how opioids can affect diverse parts of the gastrointestinal tract. Patients can experience GI symptoms and side effects related to the intake of opioids, including opioid-induced constipation (OIC), esophageal dysmotility, and delayed gastric emptying, according to a new AGA Clinical Practice Update published in the September 2017 issue of Clinical Gastroenterology and Hepatology.

Because of the common use of opioid medications to treat chronic pain, the authors recommend that physicians should first consider whether any gastrointestinal symptoms are directly related to the intake of opioids. In acute administration of opioids, symptomatic remedies should be used to counter the pharmacologic effects. For OIC, the bowel function index – a clinician assessment tool to appraise severity and responsiveness to current treatment – should be used to identify chronic OIC that is not responding to first-line therapies.

The clinical practice update also outlines:

• Pharmacologic effects of opiates in different regions of the gastrointestinal tract.
• Therapeutic uses of opioid receptor agonists and antagonists in gastroenterology.
• Prevention and treatment of OIC.

[email protected]

Robert is a 5-year-old boy who presents for an autism diagnostic evaluation accompanied by his parents, who report longstanding concerns about their son’s communication difficulties. Robert has an older brother who has been diagnosed with an autism spectrum disorder (ASD). Robert’s caregivers have noticed his tendency to “copy cat” others and often repeat phrases from television or movies. Robert and his family provided additional history and, after a multidisciplinary evaluation, he was diagnosed as fitting the criteria for ASD. Our team spoke with Robert’s parents about their impressions and recommendations and further explored the family history and ways in which the family functions. Robert lives with his parents and four siblings (one older and three younger, including a set of fraternal twins), most of whom display language impairments and difficulties with emotional regulation, as well. Robert’s mother also discloses that she is pregnant again. “Where do we go from here?” Robert’s mother wonders. “Our family is already so affected by autism, should I be worried about the other children?”

MariaDubova/Thinkstock

Discussion

It’s well established that genetic factors play a significant role in the etiology of autism spectrum disorders, other neurodevelopmental disorders, and a vast array of mental health problems. Although quite complicated and multifactorial, heritability estimates garnered from twin studies for autism range up to well above 50%¹, and although finding specific genetic causes of nonsyndromic autism is the exception to the rule, chromosomal microarray analysis (CMA) is recommended as a first-line genetic test for those with autism. Recent literature has shown that molecular diagnoses of ASD are found in about 9% of the population studied², and families should be aware that genetic testing can potentially help make decisions about clinical management and can inform discussions about recurrence risk.

Families should be made aware that sibling recurrence rates of autism have been found to be around 20 times higher than the prevalence within the general population³. Certainly having one child with autism can afford a significant risk for parents having another child with the same disorder, and researchers are learning more about the influence of gender on such risk⁴. Curiously, siblings born after an older sister with autism seem to have a higher risk of ASD than if they were born after an older brother with autism. The authors of this study note, however, that even for those with the highest risk (younger brothers with an older sister with autism had about a 17% probability of recurrence), odds are they will be unaffected by autism. Complicating matters is the notion of the broad autism phenotype (BAP – denoting those who may have features of autism but do not reach diagnostic threshold) with literature indicating at least one BAP trait was found in about 50% of family members of those with ASD⁵.

In addition, autism also may share genetic vulnerabilities with other conditions – parental psychiatric diagnoses have been found to increase the risk for ASD in their children, and ASD frequently co-occurs with a constellation of other disorders – including anxiety disorders, intellectual disabilities, ADHD, and learning problems. This information can be helpful to clinicians when they speak with parents about the complicated nature of psychiatric and developmental disorders, and how such disorders can affect the family not only biologically, but through dynamic environmental means, as well. The bottom line is that autism in a proband can be associated with a wide range of psychiatric and neurodevelopmental problems in other family members, including parents and siblings⁶. Data clearly indicate that, if a child carries an autism diagnosis, engaging family in family-based treatment, prevention, surveillance/screening, and general supportive interventions are critical in promoting positive outcomes.

Children and adolescents with ASD are a remarkably heterogeneous group with variable family dynamics; clinically, it’s not uncommon to meet parents from all backgrounds who speak eloquently about the stress they face raising a child with any neurodevelopmental disorder. This stress has been well documented in several scientific articles over the past decade (for mothers more so than fathers) but other family members (for example, typically developing siblings) undoubtedly experience similar stress, but this has been less robustly researched. Literature has, in fact, revealed that children who develop typically and who reside with a sibling who has a disability are more likely (compared with siblings living with other typically developing siblings) to have problems related to interpersonal relationships, school functioning, and use of leisure time⁷. Undeniably, complicated interactions with one’s functional profile, the quality of a sibling’s symptoms, parental stress, and other variables (parental marital status, birth order, presence of parental depression, available sources of support, etc.) are noted, and clearly, autism’s effects can extend far beyond the “identified patient.”

It’s important to note, however, that not all effects are negative. Siblings can demonstrate positive adjustments when growing up with a brother or sister who has autism. While siblings encounter unique demands (missing out on certain outings, feeling embarrassed by a brother’s social behaviors, having to “take care” of their brother, “why can’t we be a normal family?”), these demands can produce benefits, and parents should be aware that negative effects on siblings are far from inevitable. Siblings actually may show increased empathy, more sophisticated coping skills, and an advanced appreciation for those with developmental challenges, compared with most of their peers. Typically developing siblings can serve not only as a social and play partner for their family member with ASD (fostering social competencies), but also the individual with ASD can serve a positive role in influencing the development of those without ASD⁸.

All things considered, talking with families about the impact of autism on parents and siblings can be complicated but should focus on the positives while being realistic about potential challenges. It is important to inform families about the risk of recurrence and about the stress that autism can create on siblings while you are assessing a family’s functioning and care-giving burdens. Ultimately, this can help you determine how to offer them the most appropriate, evidence-based, and family-focused care.

Dr. Dickerson, a child and adolescent psychiatrist, is an assistant professor of psychiatry at the University of Vermont, Burlington, where he is director of the autism diagnostic clinic. Email him at [email protected].
 

References

1. J Child Psychol Psychiatry. 2016 May;57(5):585-95.

2. JAMA. 2015;314(9):895-903.

3. Child Adolesc Psychiatr Clin N Am. 2017 Jul;26(3):555-70.

4. (JAMA Pediatr. 2017 Sep 25. doi: 10.1001/jamapediatrics.2017.2832).

5. J Autism Dev Disord. 2007 Mar; 37(3):523-36.

6. JAMA Psychiatry. 2016;73(6):622-9.

7. Pediatrics. 2013. doi: 10.1542/peds.2013-0644.

8. J Autism Dev Disord. 2016 Feb;46(2):589-602.
 

Robert is a 5-year-old boy who presents for an autism diagnostic evaluation accompanied by his parents, who report longstanding concerns about their son’s communication difficulties. Robert has an older brother who has been diagnosed with an autism spectrum disorder (ASD). Robert’s caregivers have noticed his tendency to “copy cat” others and often repeat phrases from television or movies. Robert and his family provided additional history and, after a multidisciplinary evaluation, he was diagnosed as fitting the criteria for ASD. Our team spoke with Robert’s parents about their impressions and recommendations and further explored the family history and ways in which the family functions. Robert lives with his parents and four siblings (one older and three younger, including a set of fraternal twins), most of whom display language impairments and difficulties with emotional regulation, as well. Robert’s mother also discloses that she is pregnant again. “Where do we go from here?” Robert’s mother wonders. “Our family is already so affected by autism, should I be worried about the other children?”

MariaDubova/Thinkstock

Discussion

It’s well established that genetic factors play a significant role in the etiology of autism spectrum disorders, other neurodevelopmental disorders, and a vast array of mental health problems. Although quite complicated and multifactorial, heritability estimates garnered from twin studies for autism range up to well above 50%¹, and although finding specific genetic causes of nonsyndromic autism is the exception to the rule, chromosomal microarray analysis (CMA) is recommended as a first-line genetic test for those with autism. Recent literature has shown that molecular diagnoses of ASD are found in about 9% of the population studied², and families should be aware that genetic testing can potentially help make decisions about clinical management and can inform discussions about recurrence risk.

Families should be made aware that sibling recurrence rates of autism have been found to be around 20 times higher than the prevalence within the general population³. Certainly having one child with autism can afford a significant risk for parents having another child with the same disorder, and researchers are learning more about the influence of gender on such risk⁴. Curiously, siblings born after an older sister with autism seem to have a higher risk of ASD than if they were born after an older brother with autism. The authors of this study note, however, that even for those with the highest risk (younger brothers with an older sister with autism had about a 17% probability of recurrence), odds are they will be unaffected by autism. Complicating matters is the notion of the broad autism phenotype (BAP – denoting those who may have features of autism but do not reach diagnostic threshold) with literature indicating at least one BAP trait was found in about 50% of family members of those with ASD⁵.

In addition, autism also may share genetic vulnerabilities with other conditions – parental psychiatric diagnoses have been found to increase the risk for ASD in their children, and ASD frequently co-occurs with a constellation of other disorders – including anxiety disorders, intellectual disabilities, ADHD, and learning problems. This information can be helpful to clinicians when they speak with parents about the complicated nature of psychiatric and developmental disorders, and how such disorders can affect the family not only biologically, but through dynamic environmental means, as well. The bottom line is that autism in a proband can be associated with a wide range of psychiatric and neurodevelopmental problems in other family members, including parents and siblings⁶. Data clearly indicate that, if a child carries an autism diagnosis, engaging family in family-based treatment, prevention, surveillance/screening, and general supportive interventions are critical in promoting positive outcomes.

Children and adolescents with ASD are a remarkably heterogeneous group with variable family dynamics; clinically, it’s not uncommon to meet parents from all backgrounds who speak eloquently about the stress they face raising a child with any neurodevelopmental disorder. This stress has been well documented in several scientific articles over the past decade (for mothers more so than fathers) but other family members (for example, typically developing siblings) undoubtedly experience similar stress, but this has been less robustly researched. Literature has, in fact, revealed that children who develop typically and who reside with a sibling who has a disability are more likely (compared with siblings living with other typically developing siblings) to have problems related to interpersonal relationships, school functioning, and use of leisure time⁷. Undeniably, complicated interactions with one’s functional profile, the quality of a sibling’s symptoms, parental stress, and other variables (parental marital status, birth order, presence of parental depression, available sources of support, etc.) are noted, and clearly, autism’s effects can extend far beyond the “identified patient.”

It’s important to note, however, that not all effects are negative. Siblings can demonstrate positive adjustments when growing up with a brother or sister who has autism. While siblings encounter unique demands (missing out on certain outings, feeling embarrassed by a brother’s social behaviors, having to “take care” of their brother, “why can’t we be a normal family?”), these demands can produce benefits, and parents should be aware that negative effects on siblings are far from inevitable. Siblings actually may show increased empathy, more sophisticated coping skills, and an advanced appreciation for those with developmental challenges, compared with most of their peers. Typically developing siblings can serve not only as a social and play partner for their family member with ASD (fostering social competencies), but also the individual with ASD can serve a positive role in influencing the development of those without ASD⁸.

All things considered, talking with families about the impact of autism on parents and siblings can be complicated but should focus on the positives while being realistic about potential challenges. It is important to inform families about the risk of recurrence and about the stress that autism can create on siblings while you are assessing a family’s functioning and care-giving burdens. Ultimately, this can help you determine how to offer them the most appropriate, evidence-based, and family-focused care.

Dr. Dickerson, a child and adolescent psychiatrist, is an assistant professor of psychiatry at the University of Vermont, Burlington, where he is director of the autism diagnostic clinic. Email him at [email protected].
 

References

1. J Child Psychol Psychiatry. 2016 May;57(5):585-95.

2. JAMA. 2015;314(9):895-903.

3. Child Adolesc Psychiatr Clin N Am. 2017 Jul;26(3):555-70.

4. (JAMA Pediatr. 2017 Sep 25. doi: 10.1001/jamapediatrics.2017.2832).

5. J Autism Dev Disord. 2007 Mar; 37(3):523-36.

6. JAMA Psychiatry. 2016;73(6):622-9.

7. Pediatrics. 2013. doi: 10.1542/peds.2013-0644.

8. J Autism Dev Disord. 2016 Feb;46(2):589-602.
 

Robert is a 5-year-old boy who presents for an autism diagnostic evaluation accompanied by his parents, who report longstanding concerns about their son’s communication difficulties. Robert has an older brother who has been diagnosed with an autism spectrum disorder (ASD). Robert’s caregivers have noticed his tendency to “copy cat” others and often repeat phrases from television or movies. Robert and his family provided additional history and, after a multidisciplinary evaluation, he was diagnosed as fitting the criteria for ASD. Our team spoke with Robert’s parents about their impressions and recommendations and further explored the family history and ways in which the family functions. Robert lives with his parents and four siblings (one older and three younger, including a set of fraternal twins), most of whom display language impairments and difficulties with emotional regulation, as well. Robert’s mother also discloses that she is pregnant again. “Where do we go from here?” Robert’s mother wonders. “Our family is already so affected by autism, should I be worried about the other children?”

MariaDubova/Thinkstock

Discussion

It’s well established that genetic factors play a significant role in the etiology of autism spectrum disorders, other neurodevelopmental disorders, and a vast array of mental health problems. Although quite complicated and multifactorial, heritability estimates garnered from twin studies for autism range up to well above 50%¹, and although finding specific genetic causes of nonsyndromic autism is the exception to the rule, chromosomal microarray analysis (CMA) is recommended as a first-line genetic test for those with autism. Recent literature has shown that molecular diagnoses of ASD are found in about 9% of the population studied², and families should be aware that genetic testing can potentially help make decisions about clinical management and can inform discussions about recurrence risk.

Families should be made aware that sibling recurrence rates of autism have been found to be around 20 times higher than the prevalence within the general population³. Certainly having one child with autism can afford a significant risk for parents having another child with the same disorder, and researchers are learning more about the influence of gender on such risk⁴. Curiously, siblings born after an older sister with autism seem to have a higher risk of ASD than if they were born after an older brother with autism. The authors of this study note, however, that even for those with the highest risk (younger brothers with an older sister with autism had about a 17% probability of recurrence), odds are they will be unaffected by autism. Complicating matters is the notion of the broad autism phenotype (BAP – denoting those who may have features of autism but do not reach diagnostic threshold) with literature indicating at least one BAP trait was found in about 50% of family members of those with ASD⁵.

In addition, autism also may share genetic vulnerabilities with other conditions – parental psychiatric diagnoses have been found to increase the risk for ASD in their children, and ASD frequently co-occurs with a constellation of other disorders – including anxiety disorders, intellectual disabilities, ADHD, and learning problems. This information can be helpful to clinicians when they speak with parents about the complicated nature of psychiatric and developmental disorders, and how such disorders can affect the family not only biologically, but through dynamic environmental means, as well. The bottom line is that autism in a proband can be associated with a wide range of psychiatric and neurodevelopmental problems in other family members, including parents and siblings⁶. Data clearly indicate that, if a child carries an autism diagnosis, engaging family in family-based treatment, prevention, surveillance/screening, and general supportive interventions are critical in promoting positive outcomes.

Children and adolescents with ASD are a remarkably heterogeneous group with variable family dynamics; clinically, it’s not uncommon to meet parents from all backgrounds who speak eloquently about the stress they face raising a child with any neurodevelopmental disorder. This stress has been well documented in several scientific articles over the past decade (for mothers more so than fathers) but other family members (for example, typically developing siblings) undoubtedly experience similar stress, but this has been less robustly researched. Literature has, in fact, revealed that children who develop typically and who reside with a sibling who has a disability are more likely (compared with siblings living with other typically developing siblings) to have problems related to interpersonal relationships, school functioning, and use of leisure time⁷. Undeniably, complicated interactions with one’s functional profile, the quality of a sibling’s symptoms, parental stress, and other variables (parental marital status, birth order, presence of parental depression, available sources of support, etc.) are noted, and clearly, autism’s effects can extend far beyond the “identified patient.”

It’s important to note, however, that not all effects are negative. Siblings can demonstrate positive adjustments when growing up with a brother or sister who has autism. While siblings encounter unique demands (missing out on certain outings, feeling embarrassed by a brother’s social behaviors, having to “take care” of their brother, “why can’t we be a normal family?”), these demands can produce benefits, and parents should be aware that negative effects on siblings are far from inevitable. Siblings actually may show increased empathy, more sophisticated coping skills, and an advanced appreciation for those with developmental challenges, compared with most of their peers. Typically developing siblings can serve not only as a social and play partner for their family member with ASD (fostering social competencies), but also the individual with ASD can serve a positive role in influencing the development of those without ASD⁸.

All things considered, talking with families about the impact of autism on parents and siblings can be complicated but should focus on the positives while being realistic about potential challenges. It is important to inform families about the risk of recurrence and about the stress that autism can create on siblings while you are assessing a family’s functioning and care-giving burdens. Ultimately, this can help you determine how to offer them the most appropriate, evidence-based, and family-focused care.

Dr. Dickerson, a child and adolescent psychiatrist, is an assistant professor of psychiatry at the University of Vermont, Burlington, where he is director of the autism diagnostic clinic. Email him at [email protected].
 

References

1. J Child Psychol Psychiatry. 2016 May;57(5):585-95.

2. JAMA. 2015;314(9):895-903.

3. Child Adolesc Psychiatr Clin N Am. 2017 Jul;26(3):555-70.

4. (JAMA Pediatr. 2017 Sep 25. doi: 10.1001/jamapediatrics.2017.2832).

5. J Autism Dev Disord. 2007 Mar; 37(3):523-36.

6. JAMA Psychiatry. 2016;73(6):622-9.

7. Pediatrics. 2013. doi: 10.1542/peds.2013-0644.

8. J Autism Dev Disord. 2016 Feb;46(2):589-602.
 

ORLANDO – Patients with eosinophilic esophagitis had a ninefold increased prevalence of celiac disease, compared with the general public, in a review of more than 35 million U.S. residents.

This finding, which corresponded to a 2% overall prevalence rate of celiac disease in patients diagnosed with eosinophilic esophagitis, suggests that routine screening for celiac disease in eosinophilic esophagitis patients is warranted, Emad Mansoor, MD, said at the World Congress of Gastroenterology at ACG 2017.

This high prevalence level “has great implications for how we screen, treat, and manage” patients with either disorder, Dr. Mansoor said in a video interview. He hypothesized that celiac disease and eosinophilic esophagitis could share genetic etiologies or environmental or autoimmune triggers that produce the high level of overlap that the results showed.

The same analysis also found high rates of celiac disease in patients with either eosinophilic gastroenteritis or colitis, but because these are both much less prevalent than eosiniphillic esophagitis the absolute number of patients with either of these eosinophilic disorders who also had celiac disease was much lower.

It’s very possible that the prevalence of eosinophilic esophagitis among patients with celiac disease is also significantly elevated, compared with the general population, but he and his associates have not run this analysis.

Their study included diagnostic records for 35,795,250 people in the Explorys database during May 2012 to May 2017, with entries from 317,000 providers at 360 U.S. hospitals. The review identified 84,040 patients with a diagnosis of celiac disease, 15,360 with eosinophilic esophagitis, 1,440 with eosinophilic gastritis, and 800 with eosinophilic colitis. This worked out to a 5-year prevalence rate of 234.8 cases of celiac disease per 100,000 patients (0.235%), an eosinophilic esophagitis prevalence of 43.7 per 100,000, an eosinophilic gastroenteritis rate of 4.0 per 100,000, and an eosinophilic colitis rate of 2.2 per 100,000, said Dr. Mansoor, a gastroenterologist at University Hospitals Cleveland Medical Center.

The prevalence of celiac disease among patients with eosinophilic gastroenteritis or colitis was higher than in the eosinophilic esophagitis patients, with rates of 3.5% and 3.7%, respectively, that translated into odds ratios about 16-fold higher than the prevalence rates in the general population for both of these eosionophilic disorders.

The analyses reported by Dr. Mansoor also showed that the prevalence of celiac disease among patients with eosinophilic esophagitis was nearly twice as high in children (not more than 18 years old) as in adults and 50% higher in women than in men. These age and sex differences were both statistically significant.

Dr. Mansoor had no disclosures.

[email protected]

On Twitter @mitchelzoler

ORLANDO – Patients with eosinophilic esophagitis had a ninefold increased prevalence of celiac disease, compared with the general public, in a review of more than 35 million U.S. residents.

This finding, which corresponded to a 2% overall prevalence rate of celiac disease in patients diagnosed with eosinophilic esophagitis, suggests that routine screening for celiac disease in eosinophilic esophagitis patients is warranted, Emad Mansoor, MD, said at the World Congress of Gastroenterology at ACG 2017.

This high prevalence level “has great implications for how we screen, treat, and manage” patients with either disorder, Dr. Mansoor said in a video interview. He hypothesized that celiac disease and eosinophilic esophagitis could share genetic etiologies or environmental or autoimmune triggers that produce the high level of overlap that the results showed.

The same analysis also found high rates of celiac disease in patients with either eosinophilic gastroenteritis or colitis, but because these are both much less prevalent than eosiniphillic esophagitis the absolute number of patients with either of these eosinophilic disorders who also had celiac disease was much lower.

It’s very possible that the prevalence of eosinophilic esophagitis among patients with celiac disease is also significantly elevated, compared with the general population, but he and his associates have not run this analysis.

Their study included diagnostic records for 35,795,250 people in the Explorys database during May 2012 to May 2017, with entries from 317,000 providers at 360 U.S. hospitals. The review identified 84,040 patients with a diagnosis of celiac disease, 15,360 with eosinophilic esophagitis, 1,440 with eosinophilic gastritis, and 800 with eosinophilic colitis. This worked out to a 5-year prevalence rate of 234.8 cases of celiac disease per 100,000 patients (0.235%), an eosinophilic esophagitis prevalence of 43.7 per 100,000, an eosinophilic gastroenteritis rate of 4.0 per 100,000, and an eosinophilic colitis rate of 2.2 per 100,000, said Dr. Mansoor, a gastroenterologist at University Hospitals Cleveland Medical Center.

The prevalence of celiac disease among patients with eosinophilic gastroenteritis or colitis was higher than in the eosinophilic esophagitis patients, with rates of 3.5% and 3.7%, respectively, that translated into odds ratios about 16-fold higher than the prevalence rates in the general population for both of these eosionophilic disorders.

The analyses reported by Dr. Mansoor also showed that the prevalence of celiac disease among patients with eosinophilic esophagitis was nearly twice as high in children (not more than 18 years old) as in adults and 50% higher in women than in men. These age and sex differences were both statistically significant.

Dr. Mansoor had no disclosures.

[email protected]

On Twitter @mitchelzoler

ORLANDO – Patients with eosinophilic esophagitis had a ninefold increased prevalence of celiac disease, compared with the general public, in a review of more than 35 million U.S. residents.

This finding, which corresponded to a 2% overall prevalence rate of celiac disease in patients diagnosed with eosinophilic esophagitis, suggests that routine screening for celiac disease in eosinophilic esophagitis patients is warranted, Emad Mansoor, MD, said at the World Congress of Gastroenterology at ACG 2017.

This high prevalence level “has great implications for how we screen, treat, and manage” patients with either disorder, Dr. Mansoor said in a video interview. He hypothesized that celiac disease and eosinophilic esophagitis could share genetic etiologies or environmental or autoimmune triggers that produce the high level of overlap that the results showed.

The same analysis also found high rates of celiac disease in patients with either eosinophilic gastroenteritis or colitis, but because these are both much less prevalent than eosiniphillic esophagitis the absolute number of patients with either of these eosinophilic disorders who also had celiac disease was much lower.

It’s very possible that the prevalence of eosinophilic esophagitis among patients with celiac disease is also significantly elevated, compared with the general population, but he and his associates have not run this analysis.

Their study included diagnostic records for 35,795,250 people in the Explorys database during May 2012 to May 2017, with entries from 317,000 providers at 360 U.S. hospitals. The review identified 84,040 patients with a diagnosis of celiac disease, 15,360 with eosinophilic esophagitis, 1,440 with eosinophilic gastritis, and 800 with eosinophilic colitis. This worked out to a 5-year prevalence rate of 234.8 cases of celiac disease per 100,000 patients (0.235%), an eosinophilic esophagitis prevalence of 43.7 per 100,000, an eosinophilic gastroenteritis rate of 4.0 per 100,000, and an eosinophilic colitis rate of 2.2 per 100,000, said Dr. Mansoor, a gastroenterologist at University Hospitals Cleveland Medical Center.

The prevalence of celiac disease among patients with eosinophilic gastroenteritis or colitis was higher than in the eosinophilic esophagitis patients, with rates of 3.5% and 3.7%, respectively, that translated into odds ratios about 16-fold higher than the prevalence rates in the general population for both of these eosionophilic disorders.

The analyses reported by Dr. Mansoor also showed that the prevalence of celiac disease among patients with eosinophilic esophagitis was nearly twice as high in children (not more than 18 years old) as in adults and 50% higher in women than in men. These age and sex differences were both statistically significant.

Dr. Mansoor had no disclosures.

[email protected]

On Twitter @mitchelzoler

VICTORIA, B.C. – In the debate over the optimal duration of methimazole therapy for Graves disease, findings of a new randomized, controlled trial reported at the annual meeting of the American Thyroid Association tip the balance in favor of long-term therapy.

The relapse rate among patients who stayed on the drug long term, for a median of 96 months, was about one-third that among patients who stopped after 18 months, reported lead investigator Fereidoun Azizi, MD, of the Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran. Patients staying on the drug long term did not experience any adverse effects during that time, although only those able to tolerate the drug initially were randomized.

Susan London/Frontline Medical News

Susan London/Frontline Medical News

Study details

Relapse of hyperthyroidism after discontinuation of antithyroid drugs remains problematic, Dr. Azizi pointed out when introducing the study.

“Many of the major papers have noted that longer antithyroid drug treatment does not really influence remission rate of Graves, and therefore most of us treat for between 12 and 24 months with antithyroid drugs, and then we stop the medication,” he said. However, recent studies and in particular a meta-analysis (Thyroid. 2017;27:1223-31) suggest there may be an advantage of long-term therapy.

Dr. Azizi and coinvestigators recruited to their trial 302 consecutive patients from a single clinic who had untreated Graves disease and were started on methimazole (Tapazole) therapy.

The 258 patients completing 18 months of therapy were randomized to stop the drug or continue on a maintenance dose long term, for 60-120 months, on a single-blind basis. (The other 44 patients withdrew mainly because of side effects, relapse, and loss to follow-up.)

Patients in the long-term therapy group stayed on the drug for a median of 96 months. The decision about specifically when to stop in this group was guided by thyroid function test results and patients’ clinical status and preferences, according to Dr. Azizi.

The rate of relapse at 48 months after stopping methimazole was 51% among patients in the short-term therapy group but just 16% among patients in the long-term therapy group (P less than or equal to .001). “Definitely, this looks like a cure of the disease if we consider this very low incidence of relapse,” he commented.

Within the group treated long term, patients who did and did not experience relapse were statistically indistinguishable with respect to temporal trends in levels of triiodothyronine (T3), free thyroxine (T4), thyroid-stimulating hormone (TSH), and thyroid-stimulating hormone receptor antibody (TRAb).

Additionally, the daily dose of methimazole therapy required to maintain TSH levels in the normal range fell similarly over time, to about half the initial dose, regardless of whether patients had a relapse or not.

“At the end of treatment, the majority of patients were taking less than 5 mg/day of methimazole,” Dr. Azizi reported. “Some patients needed only two or three pills of 5-mg methimazole per week, and this is very interesting to know, that after you continue, you have definitely more response to methimazole.”

Multivariate analyses showed that in the short-term therapy group, risk factors for relapse were age, sex, and end-of-therapy levels of T3, TSH, and TRAb. In the long-term therapy group, risk factors were end-of-therapy levels of free T4 and TSH.

“We are currently performing more in-depth analysis of genetic markers, including both SNPs [single nucleotide polymorphisms] and HLA [human leukocyte antigen] subtyping on these samples to assess any potential association between relapse rates and genetic background,” Dr. Azizi noted. “However, the problem is the low number of patients who have had a relapse long term.”

During the first 18 months of methimazole therapy, 16 patients had adverse effects in the first 2 months (14 had cutaneous reactions and 2 had elevation of liver enzymes). However, there were no serious complications, such as agranulocytosis.

“It’s very reassuring that after 18 months, in those who had long-term treatment, we did not see any minor or major complications throughout, up to the 120 months of treatment we have had in some of our patients,” Dr. Azizi commented.

Dr. Azizi disclosed that he had no relevant conflicts of interest.

VICTORIA, B.C. – In the debate over the optimal duration of methimazole therapy for Graves disease, findings of a new randomized, controlled trial reported at the annual meeting of the American Thyroid Association tip the balance in favor of long-term therapy.

The relapse rate among patients who stayed on the drug long term, for a median of 96 months, was about one-third that among patients who stopped after 18 months, reported lead investigator Fereidoun Azizi, MD, of the Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran. Patients staying on the drug long term did not experience any adverse effects during that time, although only those able to tolerate the drug initially were randomized.

Susan London/Frontline Medical News

Susan London/Frontline Medical News

Study details

Relapse of hyperthyroidism after discontinuation of antithyroid drugs remains problematic, Dr. Azizi pointed out when introducing the study.

“Many of the major papers have noted that longer antithyroid drug treatment does not really influence remission rate of Graves, and therefore most of us treat for between 12 and 24 months with antithyroid drugs, and then we stop the medication,” he said. However, recent studies and in particular a meta-analysis (Thyroid. 2017;27:1223-31) suggest there may be an advantage of long-term therapy.

Dr. Azizi and coinvestigators recruited to their trial 302 consecutive patients from a single clinic who had untreated Graves disease and were started on methimazole (Tapazole) therapy.

The 258 patients completing 18 months of therapy were randomized to stop the drug or continue on a maintenance dose long term, for 60-120 months, on a single-blind basis. (The other 44 patients withdrew mainly because of side effects, relapse, and loss to follow-up.)

Patients in the long-term therapy group stayed on the drug for a median of 96 months. The decision about specifically when to stop in this group was guided by thyroid function test results and patients’ clinical status and preferences, according to Dr. Azizi.

The rate of relapse at 48 months after stopping methimazole was 51% among patients in the short-term therapy group but just 16% among patients in the long-term therapy group (P less than or equal to .001). “Definitely, this looks like a cure of the disease if we consider this very low incidence of relapse,” he commented.

Within the group treated long term, patients who did and did not experience relapse were statistically indistinguishable with respect to temporal trends in levels of triiodothyronine (T3), free thyroxine (T4), thyroid-stimulating hormone (TSH), and thyroid-stimulating hormone receptor antibody (TRAb).

Additionally, the daily dose of methimazole therapy required to maintain TSH levels in the normal range fell similarly over time, to about half the initial dose, regardless of whether patients had a relapse or not.

“At the end of treatment, the majority of patients were taking less than 5 mg/day of methimazole,” Dr. Azizi reported. “Some patients needed only two or three pills of 5-mg methimazole per week, and this is very interesting to know, that after you continue, you have definitely more response to methimazole.”

Multivariate analyses showed that in the short-term therapy group, risk factors for relapse were age, sex, and end-of-therapy levels of T3, TSH, and TRAb. In the long-term therapy group, risk factors were end-of-therapy levels of free T4 and TSH.

“We are currently performing more in-depth analysis of genetic markers, including both SNPs [single nucleotide polymorphisms] and HLA [human leukocyte antigen] subtyping on these samples to assess any potential association between relapse rates and genetic background,” Dr. Azizi noted. “However, the problem is the low number of patients who have had a relapse long term.”

During the first 18 months of methimazole therapy, 16 patients had adverse effects in the first 2 months (14 had cutaneous reactions and 2 had elevation of liver enzymes). However, there were no serious complications, such as agranulocytosis.

“It’s very reassuring that after 18 months, in those who had long-term treatment, we did not see any minor or major complications throughout, up to the 120 months of treatment we have had in some of our patients,” Dr. Azizi commented.

Dr. Azizi disclosed that he had no relevant conflicts of interest.

VICTORIA, B.C. – In the debate over the optimal duration of methimazole therapy for Graves disease, findings of a new randomized, controlled trial reported at the annual meeting of the American Thyroid Association tip the balance in favor of long-term therapy.

The relapse rate among patients who stayed on the drug long term, for a median of 96 months, was about one-third that among patients who stopped after 18 months, reported lead investigator Fereidoun Azizi, MD, of the Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran. Patients staying on the drug long term did not experience any adverse effects during that time, although only those able to tolerate the drug initially were randomized.

Susan London/Frontline Medical News

Susan London/Frontline Medical News

Study details

Relapse of hyperthyroidism after discontinuation of antithyroid drugs remains problematic, Dr. Azizi pointed out when introducing the study.

“Many of the major papers have noted that longer antithyroid drug treatment does not really influence remission rate of Graves, and therefore most of us treat for between 12 and 24 months with antithyroid drugs, and then we stop the medication,” he said. However, recent studies and in particular a meta-analysis (Thyroid. 2017;27:1223-31) suggest there may be an advantage of long-term therapy.

Dr. Azizi and coinvestigators recruited to their trial 302 consecutive patients from a single clinic who had untreated Graves disease and were started on methimazole (Tapazole) therapy.

The 258 patients completing 18 months of therapy were randomized to stop the drug or continue on a maintenance dose long term, for 60-120 months, on a single-blind basis. (The other 44 patients withdrew mainly because of side effects, relapse, and loss to follow-up.)

Patients in the long-term therapy group stayed on the drug for a median of 96 months. The decision about specifically when to stop in this group was guided by thyroid function test results and patients’ clinical status and preferences, according to Dr. Azizi.

The rate of relapse at 48 months after stopping methimazole was 51% among patients in the short-term therapy group but just 16% among patients in the long-term therapy group (P less than or equal to .001). “Definitely, this looks like a cure of the disease if we consider this very low incidence of relapse,” he commented.

Within the group treated long term, patients who did and did not experience relapse were statistically indistinguishable with respect to temporal trends in levels of triiodothyronine (T3), free thyroxine (T4), thyroid-stimulating hormone (TSH), and thyroid-stimulating hormone receptor antibody (TRAb).

Additionally, the daily dose of methimazole therapy required to maintain TSH levels in the normal range fell similarly over time, to about half the initial dose, regardless of whether patients had a relapse or not.

“At the end of treatment, the majority of patients were taking less than 5 mg/day of methimazole,” Dr. Azizi reported. “Some patients needed only two or three pills of 5-mg methimazole per week, and this is very interesting to know, that after you continue, you have definitely more response to methimazole.”

Multivariate analyses showed that in the short-term therapy group, risk factors for relapse were age, sex, and end-of-therapy levels of T3, TSH, and TRAb. In the long-term therapy group, risk factors were end-of-therapy levels of free T4 and TSH.

“We are currently performing more in-depth analysis of genetic markers, including both SNPs [single nucleotide polymorphisms] and HLA [human leukocyte antigen] subtyping on these samples to assess any potential association between relapse rates and genetic background,” Dr. Azizi noted. “However, the problem is the low number of patients who have had a relapse long term.”

During the first 18 months of methimazole therapy, 16 patients had adverse effects in the first 2 months (14 had cutaneous reactions and 2 had elevation of liver enzymes). However, there were no serious complications, such as agranulocytosis.

“It’s very reassuring that after 18 months, in those who had long-term treatment, we did not see any minor or major complications throughout, up to the 120 months of treatment we have had in some of our patients,” Dr. Azizi commented.

Dr. Azizi disclosed that he had no relevant conflicts of interest.