Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

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

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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
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 Withdrawn and autism spectrum symptoms were particularly elevated in AS.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
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
Conclusions Prader-Willi syndrome (PWS) and Angelman syndrome (AS) also present with gene abnormalitiesy in the region of 15q11-q13; therefore, we compared the clinical characteristics of our patient with those of PWS and AS. This comparison showed that the clinical characteristics of our patient were most similar to the phenotype of AS. The cleft lip and palate were assumed to be an expression of tetrasomy 15q, with gene abnormalities present in the 15q11-q13 region of GABA type A receptor B3 (GABRB3). These abnormalities may be associated with GABRB3 overexpression, resulting in left CLA.
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - Category: ENT & OMF Source Type: research
We report here a robust phenotype in the mouse in which deletion of Gabrb3 alone causes nearly complete loss of retinal pigmentation due to atrophied melanosomes, as evidenced by electron microscopy. Using exome and RNA sequencing, we confirmed that only the Gabrb3 gene was disrupted while the Oca2 gene was intact. However, mRNA abundance of Oca2 and other genes adjacent to Gabrb3 is substantially reduced in Gabrb3 −/− mice, suggesting complex transcriptional regulation in this region. These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual def...
Source: Cell Reports - Category: Cytology Source Type: research
by Anthony R. Isles, Andrés Ingason, Chelsea Lowther, James Walters, Micha Gawlick, Gerald Stöber, Elliott Rees, Joanna Martin, Rosie B. Little, Harry Potter, Lyudmila Georgieva, Lucilla Pizzo, Norio Ozaki, Branko Aleksic, Itaru Kushima, Masashi Ikeda, Nakao Iwata, Douglas F. Levinson, Pablo V. Gejman, Jianxin Shi, Alan R. Sanders, Jubao Duan, Joseph Willis, Sanjay Sisodiya, Gregory Costain, Thomas M. Werge, Franziska Degenhardt, Ina Giegling, Dan Rujescu, Stefan J. Hreidarsson, Evald Saemundsen, Joo Wook Ahn, Caroline Ogilvie, Santhosh D. Girirajan, Hreinn Stefansson, Kari Stefansson, Michael C. O’Donova...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
OBJECTIVE: Identify the prevalence of Autism Spectrum Disorders (ASD) in children with genetic syndromes and describe the likelihood and usual timing of ASD diagnosis. BACKGROUND: The association between ASD and common genetic syndromes is established. The timing for ASD diagnosis relative to the diagnosis of the genetic disorder has not been described. METHODS: A retrospective case-cohort study of children, aged 2-18 years who were enrolled in the military health system database from October 2000 to September 2013 and who has an ICD-9 diagnosis codes for ASD at two separate encounters were included. Controls were matched ...
Source: Neurology - Category: Neurology Authors: Tags: Child Neurology and Developmental Neurology: Other Source Type: research
Conclusions: This study demonstrates that shorter LCSH at chromosomes 7q21.3, 7q31.2, 11p15.5, and 15p11.2 occur with a frequency of about 5 % in the children with intellectual disability, autism, congenital malformations and/or epilepsy. Consequently, this type of epigenetic mutations appears to be the most common one among children with neurodevelopmental diseases. Finally, since LCSH less than 2.5–10 Mb in size are generally ignored in diagnostic SNP microarray studies, one can conclude that an important epigenetic cause of intellectual disability, autism or epilepsy is actually overlooked.
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Source Type: research
CONCLUSIONS: Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD, MR, and ASD in Korea. PMID: 26206688 [PubMed - in process]
Source: Annals of Laboratory Medicine - Category: Laboratory Medicine Tags: Ann Lab Med Source Type: research
Conclusions: Dosage effect of some genes in the concerned genomic region is known, but several genes have no evidence to have dosage dependence. Our results expanded the previous literature data. We assume dosage dependence in the case of CHRNA7 and OTUD7A, which might be involved in growth regulation. On the other hand increased dosage of the KLF13 gene seems to have no direct causal relationship with heart morphology. The genomic environment of the affected genes may be responsible for the observed phenotype.
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Source Type: research
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