ArticleBMJ case reports2017
Phelan-McDermid syndrome due to
Article in BMJ case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature.World journal of psychiatry · 2025Article
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium.Molecular psychiatry · 2024Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors inF1000Research · 2023Article
- Elevation of SHANK3 Levels by Antisense Oligonucleotides Directed Against the 3'-UTR of the HumanNucleic acid therapeutics · 2023Article
- Catatonia in autism and other neurodevelopmental disabilities: a state-of-the-art review.Npj mental health research · 2022Review
- Article
- Case study: organizing outpatient pharmacological treatment of bipolar disorder in autism, intellectual disability and Phelan-McDermid syndrome (22q13.3 deletion syndrome).International journal of developmental disabilities · 2022Article
- Opportunities for ABA intervention in Phelan-McDermid syndrome.International journal of developmental disabilities · 2022Article
- Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.Genes · 2021Review
- Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?Journal of autism and developmental disorders · 2021Article
- Glycogen Synthase Kinase-3 Inhibitors: Preclinical and Clinical Focus on CNS-A Decade Onward.Frontiers in molecular neuroscience · 2021Review
- Article
- A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?BMJ case reports · 2019Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.