Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

Recent array-based studies have detected a wealth of copy number variations (CNVs) in patients with autism spectrum disorders (ASD). Since CNVs also occur in healthy individuals, their contributions to the patient’s phenotype remain largely unclear. In a cohort of children with symptoms of ASD, diagnosis of the index patient using ADOS-G and ADI-R was performed, and the Social Responsiveness Scale (SRS) was administered to the index patients, both parents, and all available siblings. CNVs were identified using SNP arrays and confirmed by FISH or array CGH. To evaluate the clinical significance of CNVs, we analyzed three families with multiple affected children (multiplex) and six families with a single affected child (simplex) in which at least one child carried a CNV with a brain-transcribed gene. CNVs containing genes that participate in pathways previously implicated in ASD, such as the phosphoinositol signaling pathway (PIK3CA, GIRDIN), contactin-based networks of cell communication (CNTN6), and microcephalin (MCPH1) were found not to co-segregate with ASD phenotypes. In one family, a loss of CNTN5 co-segregated with disease. This indicates that most CNVs may by themselves not be sufficient to cause ASD, but still may contribute to the phenotype by additive or epistatic interactions with inherited (transmitted) mutations or non-genetic factors. Our study extends the scope of genome-wide CNV profiling beyond de novo CNVs in sporadic patients and may aid in uncovering missing heritability in genome-wide screening studies of complex psychiatric disorders

Comparing and learning from English and American higher education access and completion policies

England and the United States provide a very interesting pairing as countries with many similarities, but also instructive dissimilarities, with respect to their policies for higher education access and success. We focus on five key policy strands: student information provision; outreach from higher education institutions; student financial aid; affirmative action or contextualisation in higher education admissions; and programmes to improve higher education retention and completion. At the end, we draw conclusions on what England and the US can learn from each other. The US would benefit from following England in using Access and Participation Plans to govern university outreach efforts, making more use of income-contingent loans, and expanding the range of information provided to prospective higher education students. Meanwhile, England would benefit from following the US in making greater use of grant aid to students, devoting more policy attention to educational decisions students are making in early secondary school, and expanding its use of contextualised admissions. While we focus on England and the US, we think that the policy recommendations we make carry wider applicability. Many other countries with somewhat similar educational structures, experiences, and challenges could learn useful lessons from the policy experiences of these two countries

Proceedings of the Thirteenth International Society of Sports Nutrition (ISSN) Conference and Expo

Meeting Abstracts: Proceedings of the Thirteenth International Society of Sports Nutrition (ISSN) Conference and Expo Clearwater Beach, FL, USA. 9-11 June 201

Narrowly versus broadly defined autism spectrum disorders: differences in pre- and perinatal risk factors

Contains fulltext : 115406.pdf (publisher's version ) (Closed access)This study examined the differential contribution of pre- and perinatal risks in narrowly versus broadly defined autism spectrum disorder (ASD) and across core symptom domains, IQ and co-morbid problems. Children with a DSM-IV diagnosis of autistic disorder (AD) (n = 121) or pervasive developmental disorder not otherwise specified (PDD-NOS) (n = 75) were compared to a typical control sample (n = 311). Diagnoses were based on extensive assessments between 12 and 49 months of age (M = 33.3, SD = 6.4) and re-evaluated at 43-98 months (M = 68.1, SD = 10.7) in 70 % of the cases. Compared with controls, cases with ASD were more likely to be firstborn and show a suboptimal condition after birth. Case mothers reported more infections and more stress during pregnancy. Although the ASD subgroups showed mostly overlapping risks, cases with PDD-NOS differed from those with AD by higher exposure to smoking during pregnancy (SDP) and by a negative association of smoking with IQ, regardless of confounders. SDP appears to contribute more to broadly defined (PDD-NOS) than to narrowly defined ASD (AD). Findings suggest differences in etiological contributors between ASD phenotypes