ArticleBMC psychiatry2015
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.
Article in BMC psychiatry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- 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
- Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression.Journal of autism and developmental disorders · 2022Article
- Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.Genes · 2020Article
- Article
- Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing.Neuroscience bulletin · 2017Article
- Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.The Clinical neuropsychologistReview
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Authors and funding
8 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundDeletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound intellectual disability, severely delayed or absent speech, and autism spectrum disorders (ASD). Better knowledge of the clinical spectrum of SHANK3 haploinsufficiency is useful to facilitate clinical care monitoring and to guide molecular diagnosis, essential for genetic counselling. CASE PRESENTATION: Here, we report a detailed clinical description of a 10-year-old girl carrying a pathogenic interstitial 22q13.3 deletion encompassing only the first 17 exons of SHANK3. The clinical features displayed by the girl strongly suggested the diagnosis of dementia infantilis, described by Heller in 1908, also known as childhood disintegrative disorder.
conclusionOur present case confirms several observations according to which regression may be part of the clinical phenotype of SHANK3 haploinsufficiency. Therefore, we think it is crucial to look for mutations in the gene SHANK3 in patients diagnosed for childhood disintegrative disorder or any developmental disorder with a regressive pattern involving social and communicative skills as well as cognitive and instinctual functions, with onset around 3 years.
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