Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. J Autism Dev Disord. 2018 Oct 20;: Authors: Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN Abstract Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder. PMID: 30343463 [PubMed - as supplied by publisher]
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research

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Abstract Children with Prader-Willi syndrome (PWS) and autism spectrum disorder (ASD) present with challenges in social cognitive ability, Research comparing PWS to ASD is important given the implication of 15q11-q13 region in the biology of autism. However, recent findings question the accuracy of relying solely on parent report in behavioral characterization. Thus, this study examined social cognition in an observable pretend play task and by parent report in 50 preschool children (ages 3-5) with PWS, by subtype, compared to ASD. Behaviorally, the paternal deletion subtype expressed overall higher functioning, w...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
ConclusionOverall, this research identifies the behavioral and molecular consequences ofCYFIP1 overexpression and how they contribute to the variable phenotype seen in Dup15q syndrome and in ASD patients with excess CYFIP1.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
(University of Connecticut) A new collaboration between UConn Health and the Foundation for Prader-Willi Research will create a centralized, high quality biobank of stem cells to help researchers better understand Prader-Willi syndrome, a rare genetic disease that may hold insights into obesity, developmental delays, autism spectrum disorders, and many other conditions.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
CONCLUSIONS: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA. PMID: 30623622 [PubMed - in process]
Source: Annals of Laboratory Medicine - Category: Laboratory Medicine Tags: Ann Lab Med Source Type: research
We examined challenging behaviors in 86 toddlers and preschoolers across three NGS [Angelman syndrome (AS), Prader-Willi syndrome (PWS), and Williams syndrome (WS)] and 43 low-risk controls (LRC), using the Child Behavior Checklist for Ages 1½-5. Challenging behavior profiles differed across NGS, with generally elevated behaviors in AS and WS, but not PWS, relative to LRC. Withdrawn and autism spectrum symptoms were particularly elevated in AS. Although several profiles were similar to those previously reported in older children and adults, we also observed inconsistencies that suggest non-linear developmental patte...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Abstract Prader-Willi and the related Schaaf-Yang Syndromes (PWS/SYS) are rare neurodevelopmental disorders characterized by overlapping phenotypes of high incidence of autism spectrum disorders (ASD) and neonatal feeding difficulties. Based on clinical and basic studies, oxytocin pathway defects are suggested to contribute disease pathogenesis but the mechanism has been poorly understood. Specifically, whether the impairment in oxytocin system is limited to neuropeptide levels and how the functional properties of broader oxytocin neuron circuits affected in PWS/SYS have not been addressed. Using cell type specifi...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Abstract Challenging behaviors involving food are common for individuals with Prader-Willi syndrome (PWS) and often lead to obesity and other chronic health conditions. Efforts to decrease these behaviors, such as isolation during meals and strict monitoring of food consumption, can be stigmatizing. To decrease the food stealing of a 7 year-old girl with PWS, therapists conducted a latency-based functional analysis in a clinic setting before implementing a function-based intervention to facilitate her inclusion at the family dinner table. Intervention components entailed differential reinforcement procedures ...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
ConclusionsPWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Conclusions: There is a need to improve the complex assessment and intervention of coincidently highly related to many other syndromic and pervasive developmental disorders syndromes (e.g. autism spectrum disorders, Prader-Willi syndrome etc.). We suggest some possibilities of precising the evaluation of orofacial praxis in relation to these findings.
Source: Procedia Social and Behavioral Sciences - Category: Psychiatry & Psychology Source Type: research
AbstractChromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6% (59 out of 434). This gave a detection rate of 14.7% for devel...
Source: Neuroscience Bulletin - Category: Neuroscience Source Type: research
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