Robyn P. Thom

2 weeks ago | tandfonline.com | Hannah Carroll |Robyn P. Thom |Christopher J. McDougle

ABSTRACTIntroduction Diagnosing autism spectrum disorder (ASD) in adults is challenging due to its heterogeneity and symptom overlap with other conditions. Making an accurate diagnosis can be difficult and overwhelming but is vital for proper accommodations and interventions while avoiding unproductive or harmful treatments.

Aug 19, 2024 | medrxiv.org | Susanna B. Mierau |Robyn P. Thom |Caitlin Ravichandran |Amanda Nagy

The authors have declared no competing interest. This study did not receive any funding. I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. YesThe details of the IRB/oversight body that provided approval or exemption for the research described are given below:The Mass General Brigham Institutional Review Board gave approval for this work.

May 23, 2024 | onlinelibrary.wiley.com | Angela Lin |Eleanor Scimone |Robyn P. Thom |Duraisamy Balaguru

1 INTRODUCTION Since the first description in two unrelated male patients (Myhre et al., 1981), Myhre syndrome (MIM #139210, ORPHA #2588) has been increasingly recognized as a distinctive short stature syndrome with a recognizable facial appearance, hearing loss, and progressive abnormalities of the cardiovascular system, upper airway, lungs, skin, bones, and joints.