Molecular Characterization of NRXN1 Deletions from 19,263 Clinical Microarray Cases Identifies Exons Important for Neurodevelopmental Disease Expression

PURPOSE: The purpose of the current study was to assess the penetrance of NRXN1 deletions. METHODS: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions. RESULTS: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P \u3c 0.0001). Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3\u27 end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5\u27 NRXN1 deletion (OR = 7.47; 95% CI: 2.36-23.61; P = 0.0006). The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (P = 0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV at a prevalence twice as high as that for exonic NRXN1 deletion cases (P = 0.0035). CONCLUSIONS: The results support the importance of exons near the 5\u27 end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes.Genet Med 19 1, 53-61

De Novo and Rare Inherited Copy-Number Variations in the Hemiplegic Form of Cerebral Palsy

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs

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Navigating health care systems for military-connected children with autism spectrum disorder: A qualitative study of military families experiencing mandatory relocation

Abstract Background Most military families experience mandatory relocation, or posting, several times during the military career. For Canadian military families who must access provincial or territorial health care systems, maintaining reasonable continuity of care is a persistent issue. Such challenges may be amplified when a child in a military family has special needs within the health and educational systems. Objective The purpose of this qualitative study was to gain a better understanding of Canadian Armed Forces families’ experiences in navigating health care systems on behalf of a child with autism spectrum disorder (ASD) in the context of mandatory relocation. Methods Parents of children with ASD, where at least one parent serves in the Canadian Armed Forces and had faced military-related relocation, were recruited. Semi-structured interviews were recorded, transcribed verbatim, and analyzed thematically. Results Twelve participants represented 12 families and 15 children with ASD. Participants discussed two primary themes. (1) High mobility inherent in the military lifestyle can create disruptions and discontinuities to service, including delays in diagnosis or intervention, losses and gains in available services determined by the direction of posting, and the need to start health care access processes over again when relocating. (2) Navigating health systems for children with ASD creates personal stress and frustration related to relocating, and has career implications for both parents. Conclusions Military-related relocation can create significant disruption in access to health and educational services for Canadian military families who have a child with ASD, and take a personal toll on these families. </jats:sec

Charting a course to support military families navigating service systems for children with Autism Spectrum Disorder: A qualitative study

Introduction: Most military families experience mandatory relocation, or posting, several times during their military career. For Canadian military families, who must access provincial or territorial health care systems, maintaining reasonable continuity of care is a persistent issue. Such challenges may be amplified when a child in a military family has special needs within the health and educational systems. The purpose of this qualitative study was to gain a better understanding of Canadian Armed Forces (CAF) families’ experiences in navigating health care systems on behalf of a child with Autism Spectrum Disorder (ASD), in the context of mandatory relocation, and to determine their recommendations for improved system navigation. Methods: Parents of children with ASD, where at least one parent serves in the CAF and had faced military-related relocation, were recruited. Semi-structured interviews were recorded, transcribed verbatim, and analyzed thematically. Results: A total of 13 participants represented 12 families and 15 children with ASD. Participants discussed two primary ways to support military families: (1) Improve communication between military-connected families with children with ASD, and (2) Improve transition coordination. Discussion: The recommendations made by military families echo those made in clinical professional association reports and recent Canadian research. International policy initiatives to offset the impacts of military family relocation may serve as examples to adapt to the provincial and territorial jurisdictions for both health and education in Canada. </jats:p

Design and Evaluation of an Exergaming System for Children With Autism Spectrum Disorder: The Children’s and Families’ Perspective

Children with autism spectrum disorder (ASD) have lower levels of physical activity than their typically developing peers. Barriers to participation include deficits in motor function and in social interaction, both of which reduce opportunities to engage in leisure activities that incorporate physical exertion. Because children with ASD also have higher than average levels of media use, exergames—video games that require bodily interaction to play—are a promising form of exercise. While studies have examined exergaming interventions for children with ASD, to date there has been little research on exergames that have been specifically designed for children with neurodevelopmental disorders, or qualitative analysis of players’ and families’ experience with exergaming programs. In this paper we present Liberi, an exergaming system involving kinaesthetic interaction within a virtual world, and designed explicitly for children with neurodevelopmental disorders. We report the results of a 6-week study where Liberi was played from the home by five children with ASD. The paper describes those aspects of the design that were successful and unsuccessful; how children and parents viewed the exergames; how the games were incorporated into the children’s lives; and how parents envisaged exergames could be best deployed for children with ASD.</jats:p