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Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
BackgroundPhelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can...
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Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants
BackgroundPhelan-McDermid syndrome (PMS) is a rare genetic disorder caused by SHANK3 pathogenic variants or chromosomal rearrangements affecting the...
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Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI
BackgroundPhelan-McDermid syndrome (PMS) is a rare multisystem disease with global developmental delay and autistic features. Genetically, the...
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Phelan McDermid Syndrome: An Incidental Prenatal Finding—Case Report
Phelan McDermid syndrome is a rare genetic disorder caused by a deletion or other structural change of the terminal end of chromosome 22. The genetic...
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Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews
AbstractTo describe the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) in relation to epileptic seizures and/or...
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Translational pediatrics: clinical perspective for Phelan–McDermid syndrome and autism research
AbstractPhelan–McDermid syndrome (PMS) is a rare genetic disorder presenting with developmental delay, epilepsy, and autism spectrum disorder (ASD)....
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Phelan-McDermid syndrome: a classification system after 30 years of experience
Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based on its etiology as a deletion of the distal long arm of...
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Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study
Phelan-McDermid syndrome (PMS) is a genetic disorder caused by a mutation or deletion of the SHANK3 gene (chromosome 22q13.3), characterized by...
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An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome
We developed an IGFBP2-mimetic peptide fragment, JB2, and showed that it promotes basal synaptic structural and functional plasticity in cultured...
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Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan–McDermid syndrome: a case report and systematic review
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric brain tumor with abnormalities in SMARCB1 located in 22q11.2. We report a case of AT/RT...
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Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome
BackgroundPhelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene and is characterized by global developmental delays and...
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A proof-of-concept study of growth hormone in children with Phelan–McDermid syndrome
BackgroundPhelan–McDermid syndrome (PMS) is caused by 22q13 deletions including SHANK3 or pathogenic sequence variants in SHANK3 and is among the...
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A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome
BackgroundPhelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene and characterized by...
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A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy
BackgroundPhelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of...
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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
BackgroundPhelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently...
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Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference
BackgroundPhelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder,...
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A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
BackgroundPhelan–McDermid syndrome (PMS) or 22q13 deletion syndrome is a rare developmental disorder characterized by hypotonia, developmental delay...
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Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism
BackgroundPhelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and...
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Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
BackgroundPhenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual...
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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.33 and is characterized by intellectual...
