Phelan-McDermid Syndrome Foundation

Recent papers from Phelan-McDermid Syndrome Foundation

1. Brief Report: Differences Between Stanford-Binet Abbreviated and Full-Scale Estimates of IQ in Fragile X Syndrome Vary Across DevelopmentJournal of Autism and Developmental Disorders · 2025
2. Hyper-extralemniscal model of Fragile X syndromeCerebral Cortex · 2025
3. Study protocol for a randomized controlled trial of Regulating Together (RT), a group therapy for emotion dysregulation in school-age autistic youth and their caregiversBMC Psychology · 2025
4. A human electrophysiological biomarker of Fragile X Syndrome is shared in V1 of Fmr1 KO mice and caused by loss of FMRP in cortical excitatory neurons2025
5. Sensorimotor Behavior in Individuals With Autism Spectrum Disorder and Their Unaffected Biological ParentsAutism Research · 2025
6. Auditory steady-state response deficits in Fragile X Syndrome implicate deficits in stimulus representation maintenance and GABAergic modulation2025
7. Conference proceedings: Inaugural meeting of the consortium for autism, genetic neurodevelopmental disorders, and digestive diseasesJournal of Pediatric Gastroenterology and Nutrition · 2024
8. What Is Brain Damage and Does Electroconvulsive Therapy Cause It?Journal of Ect · 2024
9. Updated consensus guidelines on the management of Phelan–McDermid syndromeAmerican Journal of Medical Genetics Part A · 2023
10. Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness TrialJournal of Medical Internet Research · 2022
11. Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International ConferenceOrphanet Journal of Rare Diseases · 2020
12. Psychiatric illness and regression in individuals with Phelan-McDermid syndromeJournal of Neurodevelopmental Disorders · 2020
13. Phelan‐McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reportsAmerican Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2017
14. Considerations in the evaluation and determination of minimal risk in pragmatic clinical trialsClinical Trials · 2015