The Effects of Vocational Support Programs on Individuals with Autism Spectrum Disorders

Purpose: The purpose of this review is to examine the effects of vocational support programs versus the absence of vocational support programs on employment rates, social skills, and quality of life of transition-aged youth diagnosed with autism spectrum disorders and related diagnoses. Methods: The CINAHL, Cochrane Collection Plus, Medline, PubMed, and UpToDate databases were searched for articles pertaining to our purpose statement. Four reviewers analyzed the articles for results and extracted data regarding sample characteristics, treatment characteristics, assessment tools, and outcomes. Results: Nine studies were included, all of which related to the effects of vocational support programs on individuals with ASD and related diagnoses. Conclusion: Across the board, data strongly suggested that vocational support interventions increased employment rates, improved social skills, and enhanced quality of life for individuals with ASD and related diagnoses

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway