The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
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Functional differentiation of the default and frontoparietal control networks predicts individual differences in creative achievement: evidence from macroscale cortical gradients. [PDF]
Cereb CortexSassenberg TA, Jung RE, DeYoung CG.
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
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Assessment of Posttraumatic Stress Disorder in Adults With Severe or Moderate Intellectual Disability Using the Diagnostic Interview Trauma and Stressors-Severe Intellectual Disability. [PDF]
J Intellect Disabil ResHoogstad A +3 more
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Nonseizure symptoms and broader seizure impacts in patients with Dravet syndrome and Lennox-Gastaut syndrome in clinical practice settings: Results from a multinational survey. [PDF]
Epilepsia OpenShah D +8 more
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Young People With and Without Intellectual Disability Accessing Mental Health Services: Evaluating Psychosocial Functioning Outcomes Using Electronic Health Records. [PDF]
J Intellect Disabil ResPan ZS +6 more
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