1. Fasano A, Hill I. {{Serum Zonulin, Gut Permeability, and the Pathogenesis of Autism Spectrum Disorders: Cause, Effect, or an Epiphenomenon?}}. {J Pediatr}. 2017.
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2. Geoffray MM, Nicolas A, Speranza M, Georgieff N. {{Are circadian rhythms new pathways to understand Autism Spectrum Disorder?}}. {J Physiol Paris}. 2017.
Autism Spectrum Disorder (ASD) is a frequent neurodevelopmental disorder. ASD is probably the result of intricate interactions between genes and environment altering progressively the development of brain structures and functions. Circadian rhythms are a complex intrinsic timing system composed of almost as many clocks as there are body cells. They regulate a variety of physiological and behavioral processes such as the sleep-wake rhythm. ASD is often associated with sleep disorders and low levels of melatonin. This first point raises the hypothesis that circadian rhythms could have an implication in ASD etiology. Moreover, circadian rhythms are generated by auto-regulatory genetic feedback loops, driven by transcription factors CLOCK and BMAL1, who drive transcription daily patterns of a wide number of clock-controlled genes (CCGs) in different cellular contexts across tissues. Among these, are some CCGs coding for synapses molecules associated to ASD susceptibility. Furthermore, evidence emerges about circadian rhythms control of time brain development processes.
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3. Horowitz LM, Thurm A, Farmer C, Mazefsky C, Lanzillo E, Bridge JA, Greenbaum R, Pao M, Siegel M. {{Talking About Death or Suicide: Prevalence and Clinical Correlates in Youth with Autism Spectrum Disorder in the Psychiatric Inpatient Setting}}. {J Autism Dev Disord}. 2017.
Little is known about suicidal ideation in youth with autism spectrum disorder (ASD), making it difficult to identify those at heightened risk. This study describes the prevalence of thoughts about death and suicide in 107 verbal youth with ASD with non-verbal IQ >55, assessed during inpatient psychiatric admission. Per parent report, 22% of youth with ASD had several day periods when they talked about death or suicide « often, » or « very often. » Clinical correlates included the presence of a comorbid mood (OR 2.71, 95% CI 1.12-6.55) or anxiety disorder (OR 2.32, 95% CI 1.10-4.93). The results suggest a need for developmentally appropriate suicide risk screening measures in ASD. Reliable detection of suicidal thoughts in this high-risk population will inform suicide prevention strategies.
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4. Lieb RW, Bohnert AM. {{Relations Between Executive Functions, Social Impairment, and Friendship Quality on Adjustment Among High Functioning Youth with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
High functioning adolescents with Autism Spectrum Disorder (ASD) often have adjustment difficulties, specifically loneliness and depression. To better understand contributing factors, the current study evaluated associations between several Executive Function (EF) domains, social impairment, and friendship quality on depressive symptoms and loneliness in this population. Participants included 127 high functioning ASD adolescents and a parent/caregiver. Results indicated significant levels of parent-reported EF impairment which were positively correlated with increased levels of loneliness and depressive symptoms. Social impairment was identified as a significant mediator between all studied EF domains and adjustment, while friendship quality only partially mediated the relation between emotional control and loneliness. These results have implications for treatments focusing both on social skills and adjustment in adolescents with ASD.
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5. Livingston LA, Happe F. {{Conceptualising Compensation in Neurodevelopmental Disorders: Reflections from Autism Spectrum Disorder}}. {Neurosci Biobehav Rev}. 2017.
Within research into neurodevelopmental disorders, little is known about the mechanisms underpinning changes in symptom severity across development. When the behavioural presentation of a condition improves/symptoms lessen, this may be because core underlying atypicalities in cognition/neural function have ameliorated. An alternative possibility is ‘compensation’; that the behavioural presentation appears improved, despite persisting deficits at cognitive and neurobiological levels. There is, however, currently no agreed technical definition of compensation or its behavioural, cognitive and neural characteristics. Furthermore, its workings in neurodevelopmental disorders have not been studied directly. Here, we review current evidence for compensation in neurodevelopmental disorders, using Autism Spectrum Disorder as an example, in order to move towards a better conceptualisation of the construct. We propose a transdiagnostic framework, where compensation represents the processes responsible for an observed mismatch between behaviour and underlying cognition across development. Further, we explore potential cognitive and neural mechanisms underlying compensation and discuss the broader relevance of the concept within research and clinical settings.
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6. McIntyre NS, Solari EJ, Gonzales JE, Solomon M, Lerro LE, Novotny S, Oswald TM, Mundy PC. {{The Scope and Nature of Reading Comprehension Impairments in School-Aged Children with Higher-Functioning Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
This study of 8-16-year-olds was designed to test the hypothesis that reading comprehension impairments are part of the social communication phenotype for many higher-functioning students with autism spectrum disorder (HFASD). Students with HFASD (n = 81) were compared to those with high attention-deficit/hyperactivity disorder symptomatology (ADHD; n = 39), or typical development (TD; n = 44), on a comprehensive battery of oral language, word recognition, and reading comprehension measures. Results indicated that students with HFASD performed significantly lower on the majority of the reading and language tasks as compared to TD and ADHD groups. Structural equation models suggested that greater ASD symptomatology was related to poorer reading comprehension outcomes; further analyses suggested that this relation was mediated by oral language skills.
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7. Meiri G, Dinstein I, Michaelowski A, Flusser H, Ilan M, Faroy M, Bar-Sinai A, Manelis L, Stolowicz D, Yosef LL, Davidovitch N, Golan H, Arbelle S, Menashe I. {{Brief Report: The Negev Hospital-University-Based (HUB) Autism Database}}. {J Autism Dev Disord}. 2017.
Elucidating the heterogeneous etiologies of autism will require investment in comprehensive longitudinal data acquisition from large community based cohorts. With this in mind, we have established a hospital-university-based (HUB) database of autism which incorporates prospective and retrospective data from a large and ethnically diverse population. The collected data includes social-demographic characteristics, standardized behavioral testing, detailed clinical history from electronic patient records, genetic samples, and various neurological measures. We describe the initial cohort characteristics following the first 18 months of data collection (188 children with autism). We believe that the Negev HUB autism database offers a unique and valuable resource for studying the heterogeneity of autism etiologies across different ethnic populations.
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8. Rattaz C, Michelon C, Roeyers H, Baghdadli A. {{Quality of Life in Parents of Young Adults with ASD: EpiTED Cohort}}. {J Autism Dev Disord}. 2017.
The impact of ASD on parental QOL was evaluated in the EpiTED cohort study at early adulthood. Two-third of parents of young adults with ASD (66.7%) reported that their QoL was at least moderately altered. The perceived impact of ASD on parental QoL was related to the young adults’ level of adaptive skills, as well as to symptom severity and the presence of challenging behaviors, which appeared to be the main risk factor. The study of change between adolescence and early adulthood showed that parents whose children had a decrease in challenging behaviors perceived a decreased impact on their QoL. These results argue for the importance to propose specific interventions to target associated challenging behaviors in ASD.
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9. Ye K, Iossifov I, Levy D, Yamrom B, Buja A, Krieger AM, Wigler M. {{Measuring shared variants in cohorts of discordant siblings with applications to autism}}. {Proc Natl Acad Sci U S A}. 2017; 114(27): 7073-6.
We develop a method of analysis [affected to discordant sibling pairs (A2DS)] that tests if shared variants contribute to a disorder. Using a standard measure of genetic relation, test individuals are compared with a cohort of discordant sibling pairs (CDS) to derive a comparative similarity score. We ask if a test individual is more similar to an unrelated affected than to the unrelated unaffected sibling from the CDS and then, sum over such individuals and pairs. Statistical significance is judged by randomly permuting the affected status in the CDS. In the analysis of published genotype data from the Simons Simplex Collection (SSC) and the Autism Genetic Resource Exchange (AGRE) cohorts of children with autism spectrum disorder (ASD), we find strong statistical significance that the affected are more similar to the affected than to the unaffected of the CDS (P value approximately 0.00001). Fathers in multiplex families have marginally greater similarity (P value = 0.02) to unrelated affected individuals. These results do not depend on ethnic matching or gender.
