The adaptive functioning profile of Pitt-Hopkins syndrome
نویسندگان
چکیده
There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine PTHS and compare it to Angelman (AS). Caregivers of 14 individuals with PTHS, 33 deletion AS 23 non-deletion AS, completed Vineland Adaptive Behavior Scales-II. The in was characterised by strengths socialisation, followed motor skills, communication then daily living skills. group scored significantly lower than on all domains except socialisation group, skills only. An uneven behavior mirrors that implications assessment intervention.
منابع مشابه
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2-Mb deletion on 18q21.2 in one patient. Sequencing of the TCF4 transcription factor gene, which is contained in the deletion region, in 30 patients...
متن کاملA case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes
Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report o...
متن کاملPitt-Hopkins syndrome: report of a case with a TCF4 gene mutation
AIMS We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies. METHODS The child underwent genetic (karyotype, FISH telomeres) and neuroradiological (cranial CT and MRI) tests, which proved to be normal. He came under our clinical observation at 3...
متن کاملIntroducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless
Pitt-Hopkins syndrome (PTHS) is caused by haploinsufficiency of Transcription factor 4 (TCF4), one of the three human class I basic helix-loop-helix transcription factors called E-proteins. Drosophila has a single E-protein, Daughterless (Da), homologous to all three mammalian counterparts. Here we show that human TCF4 can rescue Da deficiency during fruit fly nervous system development. Overex...
متن کاملPhenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
BACKGROUND Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorders through a web-based database which we call 'waihonapedia' (waihona [meaning treasure in Hawaiian] encyclopaedia). METHODS We have built a waihonapedia system in a collab...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2021
ISSN: ['1769-7212', '1878-0849']
DOI: https://doi.org/10.1016/j.ejmg.2021.104279