1. Nebel RA, Kirschen J, Cai J, Woo YJ, Cherian K, Abrahams BS. {{Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L}}. {PLoS One};2015;10(6):e0129270.
Microcephaly and macrocephaly are overrepresented in individuals with autism and are thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray results from a family with a low functioning autistic child determined that the proband and two additional unaffected family members who carry a rare inherited 760 kb duplication of unknown clinical significance at 19p13.12 are macrocephalic. Consideration alongside overlapping deletion and duplication events in the literature provides support for a strong relationship between gene dosage at this locus and head size, with losses and gains associated with microcephaly (p=1.11×10-11) and macrocephaly (p=2.47×10-11), respectively. Data support A kinase anchor protein 8 and 8-like (AKAP8 and AKAP8L) as candidate genes involved in regulation of head growth, an interesting finding given previous work implicating the AKAP gene family in autism. Towards determination of which of AKAP8 and AKAP8L may be involved in the modulation of head size and risk for disease, we analyzed exome sequencing data for 693 autism families (2591 individuals) where head circumference data were available. No predicted loss of function variants were observed, precluding insights into relationship to head size, but highlighting strong evolutionary conservation. Taken together, findings support the idea that gene dosage at 19p13.12, and AKAP8 and/or AKAP8L in particular, play an important role in modulation of head size and may contribute to autism risk. Exome sequencing of the family also identified a rare inherited variant predicted to disrupt splicing of TPTE / PTEN2, a PTEN homologue, which may likewise contribute to both macrocephaly and autism risk.
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2. Singh K, Zimmerman AW. {{Sleep in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder}}. {Semin Pediatr Neurol};2015 (Jun);22(2):113-125.
Sleep problems are common in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Sleep problems in these disorders may not only worsen daytime behaviors and core symptoms of ASD and ADHD but also contribute to parental stress levels. Therefore, the presence of sleep problems in ASD and ADHD requires prompt attention and management. This article is presented in 2 sections, one each for ASD and ADHD. First, a detailed literature review about the burden and prevalence of different types of sleep disorders is presented, followed by the pathophysiology and etiology of the sleep problems and evaluation and management of sleep disorders in ASD and ADHD.
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3. Wang G, Liu Z, Xu G, Jiang F, Lu N, Baylor A, Owens J. {{Sleep Disturbances and Associated Factors in Chinese Children with Autism Spectrum Disorder: A Retrospective and Cross-Sectional Study}}. {Child Psychiatry Hum Dev};2015 (Jun 14)
Sleep disturbances in children with autism spectrum disorder (ASD) exist worldwide, but little is known about this issue in non-Western cultures. This study aimed to characterize sleep disturbances in Chinese children with ASD and to examine associated sociodemographic factors and emotional/behavioral problems. Parents of 60 Chinese children with ASD (aged 6-17 years) from Shenzhen, China completed the Children’s Sleep Habits Questionnaire (CSHQ), and the Strengths and Difficulties Questionnaire (SDQ). Sleep disturbances were severe and common, with rates of 70.0 % for overall disturbances and 15.0 % (daytime sleepiness) to 40.0 % (sleep duration) for specific domains. The severity and rate of sleep disturbances were higher compared to previous studies in typically developing children from the same region of China and American children with ASD, respectively. Further, there were significant correlations between most CSHQ and SDQ domains. Female gender, older parental age, higher hyperactivity, and poorer prosocial behavior were associated with increased overall sleep disturbances.
