Early Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder.

Early Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder. J Autism Dev Disord. 2019 Aug 06;: Authors: Dimitropoulos A, Zyga O, Russ SW 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, whereas the maternal uniparental disomy subtype performed more similarly to the ASD group. Results are the first to show deficits in social cognitive ability early in development. The severity and differences in deficits between PWS subtypes are important in informing early intervention efforts. PMID: 31388797 [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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Contributors : Aaron Gordon ; Daniel H GeschwindSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusCYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is over-expressed in Dup15q syndrome as well as autism spectrum disorder (ASD). While CYFIP1 heterozygosity has been rigorously studied due to its loss in 15q11.2 deletion, Prader-Willi and Angelman syndrome, the effects of CYFIP1 over-expression, as is observed in patients with CYFIP1 duplication are less well understood. Here, we developed a mouse model of human CYFIP1 overexpression (CYFIP1 OE)...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
The objective of this study was to investigate lobule-specific cerebellar structural alterations relevant to clinical behavioral characteristics of Prader-Willi syndrome (PWS). We performed a case-control study of 21 Japanese individuals with PWS (age; median 21.0, range 13-50 years, 14 males, 7 females) and 40 age- and sex-matched healthy controls with typical development. Participants underwent 3-Tesla magnetic resonance imaging. Three-dimensional T1-weighted images were assessed for cerebellar lobular volume and adjusted for total intracerebellar volume (TIV) using a spatially unbiased atlas template to give a rela...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
The objective of this study was to investigate lobule-specific cerebellar structural alterations relevant to clinical behavioral characteristics of Prader-Willi syndrome (PWS). We performed a case-control study of 21 Japanese individuals with PWS (age; median 21.0, range 13 –50 years, 14 males, 7 females) and 40 age- and sex-matched healthy controls with typical development. Participants underwent 3-Tesla magnetic resonance imaging. Three-dimensional T1-weighted images were assessed for cerebellar lobular volume and adjusted for total intracerebellar volume (TIV) using a spatially unbiased atlas template to give...
Source: The Cerebellum - Category: Neurology Source Type: research
This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to inform intervention strategies. Nineteen parents/carers who observe skin picking shown by the person they care for completed a semi-structured interview. Results were consistent with previous research but advanced the field by finding that most participants picked skin with an imperfection and that parents/carers most commonly use distraction as a management strategy. Interventions that are behavioural, support emotion regulation and/ or are used in ...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Abstract Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader-Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12-57 years); 74 (67%) were male. Multiple regression analyses indicated that higher rates of health problems and sensory impairments predicted higher psychopathology in WS (p 
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 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 man...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
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