1. {{Genetic defects behind fragile X-related disorders more common: Researchers find the incidence of one type of FMR1 allele double its previous estimate in males}}. {Am J Med Genet A};2013 (Apr);161(4):x-xi.
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2. {{Optimal outcome in individuals with a history of autism}}. {Br Dent J};2013 (Mar 22);214(6):299.
‘Not impaired merely different’, or is this disingenuous?
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3. An J, Hodge SR. {{Exploring the meaning of parental involvement in physical education for students with developmental disabilities}}. {Adapt Phys Activ Q};2013 (Apr);30(2):147-163.
The purpose of this phenomenological inquiry was to explore the experiences and meaning of parental involvement in physical education from the perspectives of the parents of students with developmental disabilities. The stories of four mothers of elementary aged children (3 boys, 1 girl), two mothers and one couple (mother and father) of secondary-aged youth (1 girl, 2 boys) with developmental disabilities, were gathered by using interviews, photographs, school documents, and the researcher’s journal. Bronfenbrenner’s (2005) ecological system theory provided a conceptual framework to interpret the findings of this inquiry. Three themes emerged from thematic analysis: being an advocate for my child, understanding the big picture, and collaborative partnerships undeveloped in GPE. The findings lend additional support to the need for establishing collaborative partnerships in physical education between home and school environments (An & Goodwin, 2007; Tekin, 2011).
4. Schaefer GB, Mendelsohn NJ. {{Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions}}. {Genet Med};2013 (Mar 21)
The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. In addition, increased attention has been paid to these conditions by both lay and professional groups. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with autism spectrum disorders. The primary roles of the geneticist in this process are to define etiology when possible, to provide genetic counseling, and to contribute to case management. In deciding on the appropriate evaluation for a particular patient, the geneticist will consider a host of factors: (i) ensuring an accurate diagnosis of autism before proceeding with any investigation; (ii) discussing testing options, diagnostic yields, and family investment before proceeding with an evaluation; (iii) communicating and coordinating with the patient-centered medical home (PCMH); (iv) assessing the continuously expanding and evolving list of available laboratory-testing modalities in light of the published literature; (v) recognizing the expanded phenotypes of well-described syndromic and metabolic conditions that overlap with autism spectrum disorders; and (vi) defining an individualized evaluation plan based on the unique history and clinical features of a given patient. The guidelines in this paper have been developed to assist the clinician in the consideration of these factors. It updates the original publication from 2008.Genet Med advance online publication 21 March 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.32.
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5. Walker SJ, Fortunato J, Gonzalez LG, Krigsman A. {{Identification of Unique Gene Expression Profile in Children with Regressive Autism Spectrum Disorder (ASD) and Ileocolitis}}. {PLoS One};2013;8(3):e58058.
Gastrointestinal symptoms are common in children with autism spectrum disorder (ASD) and are often associated with mucosal inflammatory infiltrates of the small and large intestine. Although distinct histologic and immunohistochemical properties of this inflammatory infiltrate have been previously described in this ASD(GI) group, molecular characterization of these lesions has not been reported. In this study we utilize transcriptome profiling of gastrointestinal mucosal biopsy tissue from ASD(GI) children and three non-ASD control groups (Crohn’s disease, ulcerative colitis, and histologically normal) in an effort to determine if there is a gene expression profile unique to the ASD(GI) group. Comparison of differentially expressed transcripts between the groups demonstrated that non-pathologic (normal) tissue segregated almost completely from inflamed tissue in all cases. Gene expression profiles in intestinal biopsy tissue from patients with Crohn’s disease, ulcerative colitis, and ASD(GI), while having significant overlap with each other, also showed distinctive features for each group. Taken together, these results demonstrate that ASD(GI) children have a gastrointestinal mucosal molecular profile that overlaps significantly with known inflammatory bowel disease (IBD), yet has distinctive features that further supports the presence of an ASD-associated IBD variant, or, alternatively, a prodromal phase of typical inflammatory bowel disease. Although we report qPCR confirmation of representative differentially expressed transcripts determined initially by microarray, these findings may be considered preliminary to the extent that they require further confirmation in a validation cohort.
