Diversity Issues in Literacy Teacher Education

In this study, the researchers examine how diversity and knowledge about diversity were viewed and integrated into higher education literacy programs. Using online focus groups, we collected information about diversity in literacy at the program and course levels. Literacy teacher educators reported complexities in the preparation of current and future teachers regarding working with diverse learners. The three themes of perspectives and dispositions, curriculum issues and decisions, and outside influences emerged. The researchers recommend that teacher educators find innovative ways to increase teacher education program effectiveness to enhance the dispositions and practices of the teachers whom they prepare where diversity is concerned

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology.1 We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with cognitive and social delay. We focused our initial analysis on CNTNAP2 based on our demonstration of disruption of Contactin 4 (CNTN4) in a patient with ASD;2 the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable seizures and autism;3 and in situ and biochemical analyses reported herein that confirm expression in relevant brain regions and demonstrate the presence of CNTNAP2 in the synaptic plasma membrane fraction of rat forebrain lysates. We comprehensively resequenced CNTNAP2 in 635 patients and 942 controls. Among patients, we identified a total of 27 nonsynonymous changes; 13 were rare and unique to patients and 8 of these were predicted to be deleterious by bioinformatic approaches and/or altered residues conserved across all species. One variant at a highly conserved position, I869T, was inherited by four affected children in three unrelated families, but was not found in 4010 control chromosomes (p = 0.014). Overall, this resequencing data demonstrated a modest nonsignificant increase in the burden of rare variants in cases versus controls. Nonethless, when viewed in light of two independent studies published in this issue of AJHG showing a relationship between ASD and common CNTNAP2 alleles,4,5 the cytogenetic and mutation screening data suggest that rare variants may also contribute to the pathophysiology of ASD, but place limits on the magnitude of this contribution

No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins

Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses, and both common and rare single nucleotide association studies. However, data specifically with regard to the contribution of heterozygous single nucleotide variants (SNVs) have been inconsistent. In an effort to clarify the role of rare point mutations in CNTNAP2 and related gene families, we have conducted targeted next-generation sequencing and evaluated existing sequence data in cohorts totaling 2704 cases and 2747 controls. We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.

Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing children ("primary" stereotypies, pCMS). The precise pathophysiological mechanism for motor stereotypies is unknown, although genetic etiologies have been suggested. In this study, we perform whole-exome DNA sequencing in 129 parent-child trios with pCMS and 853 control trios (118 cases and 750 controls after quality control). We report an increased rate of de novo predicted-damaging DNA coding variants in pCMS versus controls, identifying KDM5B as a high-confidence risk gene and estimating 184 genes conferring risk. Genes harboring de novo damaging variants in pCMS probands show significant overlap with those in Tourette syndrome, ASD, and those in ASD probands with high versus low stereotypy scores. An exploratory analysis of these pCMS gene expression patterns finds clustering within the cortex and striatum during early mid-fetal development. Exploratory gene ontology and network analyses highlight functional convergence in calcium ion transport, demethylation, cell signaling, cell cycle and development. Continued sequencing of pCMS trios will identify additional risk genes and provide greater insights into biological mechanisms of stereotypies across diagnostic boundaries

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

SummaryWe have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6–12.0, p = 2.4 × 10-7). We estimate there are 130–234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1

Diversity Issues in Literacy Teacher Education

In this study, the researchers examine how diversity and knowledge about diversity were viewed and integrated into higher education literacy programs. Using online focus groups, we collected information about diversity in literacy at the program and course levels. Literacy teacher educators reported complexities in the preparation of current and future teachers regarding working with diverse learners. The three themes of perspectives and dispositions, curriculum issues and decisions, and outside influences emerged. The researchers recommend that teacher educators find innovative ways to increase teacher education program effectiveness to enhance the dispositions and practices of the teachers whom they prepare where diversity is concerned

Biopsychosocial Factors Associated with Supportive Care Needs in Canadian Adolescent and Young Adult Cancer Survivors

Adolescents and young adults (AYAs) represent an overlooked population in cancer survivorship care. Identifying the needs of AYAs can guide the development of tailored programs for this population. We conducted a cross-sectional descriptive analysis to identify biopsychosocial factors associated with AYA post-treatment supportive care needs and unmet needs using data obtained from the Experiences of Cancer Patients in Transitions Study of the Canadian Partnership Against Cancer, in collaboration with cancer agencies in the 10 Canadian provinces. The analysis focused on data from n = 530 AYAs between the ages of 18 and 34 who had undergone treatment within the past 5 years. Respondents reported a median of two moderate to big (MTB) physical needs (out of 9) and one unmet physical need, two MTB emotional needs (out of 6) with two unmet MTB emotional needs, and one (out of 5) practical need reported and one unmet MTB practical need. We found some common associations across supportive care domains. Income (lower) and more complex treatment were associated with high needs and unmet needs across the three domains. Respondents with a family doctor who was “very involved” in their cancer care had a lower number of unmet physical and emotional needs. Identifying those at risk of supportive care needs and developing tailored pathways in which they are proactively connected with tailored and appropriate resources and programs may help to reduce the number of unmet needs and improve cancer survivors’ quality of life

Perceptions of and decision making about clinical trials in adolescent and young adults with Cancer: a qualitative analysis

Abstract Background Adolescent and young adults (AYA) enrolment rates into cancer clinical trials (CCT) are the lowest of any age group globally. As AYA have distinct biological, psychosocial and relational needs, we aimed to explore any unique factors influencing their CCT decision-making process, including AYA-specific perceptions or attitudes towards CCT. Methods Qualitative interpretive descriptive methodology was used to explore AYA perceptions and decision-making related to CCT. An analytic approach conducive to inductive imagining and exploratory questioning was used in order to generate insights and interpret data. Results A total of 21 AYA were interviewed (median age: 31 (18–39)). Twelve (57%) participants had previously been approached to participate in CCT. Major themes influencing trial enrolment decisions were: 1) severity of illness/urgency for new treatment 2) side effect profile of investigational drug in the short and long term (e.g., impact on future quality of life) 3) who approached patient for trial participation (oncologist vs. other) 4) additional information found on-line about the trial and investigators, and 5) family, friends and peer group opinion regarding the CCT. Conclusions Several psychosocial and relational factors were identified as influencing AYA CCT decisions, some of which are unique to this demographic. Specific strategies to address barriers to CCT and enable supportive decision-making include: 1) involving family in decision-making and 2) helping AYA appreciate short- and long-term implications of trial participation. Finally, exploring social networking and general education about CCT that AYA can independently access may increase participation