ArticleJournal of psychiatric research2017
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).
Article in Journal of psychiatric research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- Preserved social development but impaired executive function in aResearch square · 2026Article
- Defining and Measuring Developmental Regression During Childhood: A Scoping Review.Autism research : official journal of the International Society for Autism Research · 2026Article
- Inflammation increases the penetrance of behavioral impairment in Shank3 haploinsufficiency mice - can it explain the behavioral regression in Autism?Molecular psychiatry · 2026Article
- "SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".Molecular psychiatry · 2026Article
- SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.Translational psychiatry · 2026Article
- Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases.International journal of molecular sciences · 2026Article
- Inflammation increases the penetrance of behavioral impairment inbioRxiv : the preprint server for biology · 2025Article
- Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.American journal on intellectual and developmental disabilities · 2025Article
- Article
- Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review.International journal of molecular sciences · 2025Review
- Age-dependent cortical overconnectivity in Shank3 mice is reversed by anesthesia.Translational psychiatry · 2025Article
- Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature.World journal of psychiatry · 2025Article
- Behavioral decline in Shank3Molecular autism · 2024Article
- Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.Journal of neurodevelopmental disorders · 2024Article
- Behavioral regression in shank3Research square · 2024Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Prospective One-Year Follow-Up of Sensory Processing in Phelan-McDermid Syndrome.Children (Basel, Switzerland) · 2023Article
- Early-onset catatonia associated withFrontiers in psychiatry · 2023Article
- SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system.Cellular and molecular life sciences : CMLS · 2022Article
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Authors and funding
9 authors.
Funding
Abstract
purposeTo describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size.
methodsThe Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review. Deletion size was determined by DNA microarray.
resultsA history of regression at any age was present in 43% of all patients. Among those exhibiting regression, 67% had onset after the age of 30 months, affecting primarily motor and self-help skills. In 63% of all patients there was a history of seizures and a history of abnormal EEG was also present in 71%. No significant associations were found between regression and seizures or EEG abnormalities. Deletion size was significantly associated with EEG abnormalities, but not with regression or seizures.
conclusionThis study found a high rate of regression in PMS. In contrast to regression in autism, that often occurs earlier in development and affects language and social skills, we found regression in PMS most frequently has an onset in mid-childhood, affecting motor and self-help skills. We also found high rates of seizures and abnormal EEGs in patients with PMS. However, a history of abnormal EEG and seizures was not associated with an increased risk of regression. Larger deletion sizes were found to be significantly associated with a history of abnormal EEG.
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