ReviewJournal of child neurology2015
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
Review in Journal of child neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04312152 (Randomized, Placebo-controlled, Cross-over, Double-blind Study of a Metabolic Support Therapy With Q10 Ubiquinol and a Multivitamin B and E Complex in Two Cohorts of Patients With Idiopathic and Syndromic Autism), which is not on this map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Randomized, Placebo-controlled, Cross-over, Double-blind Study of a Metabolic Support Therapy With Q10 Ubiquinol and a Multivitamin B and E Complex in Two Cohorts of Patients With Idiopathic and Syndromic Autism (Phelan-McDermid Syndrome)
Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.European journal of human genetics : EJHG · 2018Pooled it
- A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome.Molecular autism · 2021Trial
- Glycine-modulating Slc6a20a-ASO restores NMDA receptor function in SHANK2 and SHANK3-mutant mice and cortical organoids.Nature communications · 2026Article
- Shank3 related oligodendrocyte alterations in autism are restored by Erk pathway inhibition.Molecular psychiatry · 2026Article
- Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study.CNS neuroscience & therapeutics · 2025Observational
- Altered Neural Activity in the Mesoaccumbens Pathway Underlies Impaired Social Reward Processing in Shank3-Deficient Rats.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs.Science advances · 2024Article
- Huddling substates in mice facilitate dynamic changes in body temperature and are modulated by Shank3b and Trpm8 mutation.Communications biology · 2024Article
- Huddling substates in mice facilitate dynamic changes in body temperature and are modulated byResearch square · 2024Article
- Autism-associated gene shank3 is necessary for social contagion in zebrafish.Molecular autism · 2023Article
- Review
- An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome.Molecular psychiatry · 2023Article
- Bridging the translational gap: what can synaptopathies tell us about autism?Frontiers in molecular neuroscience · 2023Review
- Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors inF1000Research · 2023Article
- Neuromodulatory functions exerted by oxytocin on different populations of hippocampal neurons in rodents.Frontiers in cellular neuroscience · 2023Review
- Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report.Molecular cytogenetics · 2022Article
- Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.Journal of personalized medicine · 2022Article
- Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.Genes · 2022Review
- iPSC toolbox for understanding and repairing disrupted brain circuits in autism.Molecular psychiatry · 2022Review
- Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.Journal of neurodevelopmental disorders · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Phelan-McDermid syndrome or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by generalized developmental delay, intellectual disability, absent or delayed speech, seizures, autism spectrum disorder, neonatal hypotonia, physical dysmorphic features, and recurrent medical comorbidities. Individuals with Phelan-McDermid syndrome have terminal deletions of the chromosomal region 22q13.3 encompassing SHANK3, a gene encoding a structural component of excitatory synapses indispensable for proper synaptogenesis and neuronal physiology, or point mutations within the gene. Here, we review the clinical aspects of the syndrome and the genetic findings shedding light onto the underlying etiology. We also provide an overview on the evidence from genetic studies and mouse models that supports SHANK3 haploinsufficiency as a major contributor of the neurobehavioral manifestations of Phelan-McDermid syndrome. Finally, we discuss how all these discoveries are uncovering the pathophysiology of Phelan-McDermid syndrome and are being translated into clinical trials for novel therapeutics ameliorating the core symptoms of the disorder.
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What OpenQuestion holds
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.