ArticleGenes2021
Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD.
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- High-dose Vitamin-B6 reduces sensory over-responsivity.Journal of psychopharmacology (Oxford, England) · 2024Trial
- Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome.Molecular autism · 2022Trial
- Restless senses, restless sleep: Exploring the sensory-sleep link in Phelan-McDermid syndrome. A Cross-Sectional Exploratory Study.BMC pediatrics · 2026Article
- Article
- Neural mechanisms underlying reduced nocifensive sensitivity in autism-associated Shank3 mutant dogs.Molecular psychiatry · 2025Article
- Altered Neural Activity in the Mesoaccumbens Pathway Underlies Impaired Social Reward Processing in Shank3-Deficient Rats.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.Journal of neurodevelopmental disorders · 2025Article
- Article
- 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
- Bridging the translational gap: what can synaptopathies tell us about autism?Frontiers in molecular neuroscience · 2023Review
- Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons.Scientific reports · 2022Article
- Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder.International journal of molecular sciences · 2022Article
- Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study.European journal of pediatrics · 2022Article
- Abnormal Whisker-Dependent Behaviors and Altered Cortico-Hippocampal Connectivity in Shank3b-/- Mice.Cerebral cortex (New York, N.Y. : 1991) · 2022Article
- Review
- Sensory Processing Phenotypes in Phelan-McDermid Syndrome andBrain sciences · 2022Article
- Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.Frontiers in neuroscience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
Phelan-McDermid syndrome (PMS) is one of the most common genetic forms of autism spectrum disorder (ASD). While sensory reactivity symptoms are widely reported in idiopathic ASD (iASD), few studies have examined sensory symptoms in PMS. The current study delineates the sensory reactivity phenotype and examines genotype-phenotype interactions in a large sample of children with PMS. Sensory reactivity was measured in a group of 52 children with PMS, 132 children with iASD, and 54 typically developing (TD) children using the Sensory Assessment for Neurodevelopmental Disorders (SAND). The SAND is a clinician-administered observation and corresponding caregiver interview that captures sensory symptoms based on the DSM-5 criteria for ASD. Children with PMS demonstrated significantly greater hyporeactivity symptoms and fewer hyperreactivity and seeking symptoms compared to children with iASD and TD controls. There were no differences between those with Class I deletions or sequence variants and those with larger Class II deletions, suggesting that haploinsufficiency of
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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.