1. Brian J, Bryson SE, Smith IM, Roberts W, Roncadin C, Szatmari P, Zwaigenbaum L. {{Stability and change in autism spectrum disorder diagnosis from age 3 to middle childhood in a high-risk sibling cohort}}. {Autism : the international journal of research and practice}. 2015 Dec 18.
Considerable evidence on autism spectrum disorder emergence comes from longitudinal high-risk samples (i.e. younger siblings of children with autism spectrum disorder). Diagnostic stability to age 3 is very good when diagnosed as early as 18-24 months, but sensitivity is weaker, and relatively little is known beyond toddlerhood. We examined stability and change in blinded, clinical best-estimate diagnosis from age 3 to middle childhood (mean age = 9.5 years) in 67 high-risk siblings enrolled in infancy. Good agreement emerged for clinical best-estimate diagnoses (89.6% overall; kappa = 0.76, p < 0.001, 95% confidence interval = 0.59-0.93). At age 3, 18 cases (26.9%) were classified with "autism spectrum disorder": 17 retained their autism spectrum disorder diagnosis (94.4%; 13 boys, 4 girls) and 1 no longer met autism spectrum disorder criteria at follow-up. Among "non-autism spectrum disorder" cases at age 3, 43/49 remained non-autism spectrum disorder at follow-up (87.8%; 22 boys, 21 girls) and 6/49 met lower autism symptomatology criteria ("Later-Diagnosed"; 3 boys, 3 girls). Later-diagnosed cases had significantly lower autism spectrum disorder symptomatology and higher receptive language at age 3 and trends toward lower autism symptoms and higher cognitive abilities at follow-up. Emerging developmental concerns were noted in all later-diagnosed cases, by age 3 or 5. High-risk children need to be followed up into middle childhood, particularly when showing differences in autism-related domains. Lien vers le texte intégral (Open Access ou abonnement)
2. Chawarska K, Ye S, Shic F, Chen L. {{Multilevel Differences in Spontaneous Social Attention in Toddlers With Autism Spectrum Disorder}}. {Child development}. 2015 Dec 19.
This study examined the latent structure of spontaneous social attention in 11- to 26-month-olds with autism spectrum disorder (ASD, n = 90) and typically developing (n = 79) controls. Application of the joint and individual variance explained decomposition technique revealed that attention was driven by a condition-independent tuning into the dynamic social scenes construct and context-specific constructs capturing selection of the most relevant social features for processing. Gaze behavior in ASD is characterized by a limited tuning into the social scenes and by a selection of atypical targets for processing. While the former may be due to early disruption of the reward circuitry leading to limited appreciation of the behavioral relevance of social information, the latter may represent secondary deficits reflecting limited knowledge about social partners.
Lien vers le texte intégral (Open Access ou abonnement)
3. Jacob J. {{Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders}}. {Epilepsia}. 2015 Dec 19.
Autism and epilepsy are two associated disorders that are highly prevalent, share common developmental origins, and demonstrate substantial heritability. In this review, cross-disciplinary data in a rapidly evolving field that bridges neurology and psychiatry are synthesized to identify shared biologic mechanisms. The relationship between these debilitating, lifelong conditions is examined at the clinical, genetic, and neurophysiologic levels in humans and in animal models. Scopus and PubMed searches were used to identify relevant literature. Clinical observations have prompted speculation about the interdependence of autism and epilepsy, but causal relationships have proved difficult to determine. Despite their heritability, the genetic basis of autism spectrum disorder (ASD) and epilepsy has remained largely elusive until the advent of next-generation sequencing. This approach has revealed that mutations that are either causal or confer an increased disease risk are found in numerous different genes, any one of which accounts for only a small percentage of cases. Conversely, even cases with identical clinical phenotypes can be genetically heterogeneous. Candidate gene identification has facilitated the development of mouse genetic models, which in parallel with human studies have implicated shared brain regions and circuits that mediate disease expression. Diverse genetic causes of ASD and epilepsy converge on cortical interneuron circuits as one important mediator of both disorders. Cortical interneurons are among the most diverse cell types in the brain and their unique chemical and electrical coupling exert a powerful inhibitory influence on excitatory neurons via the release of the neurotransmitter, gamma-aminobutyric acid (GABA). These multifaceted approaches have validated theories derived from the field of developmental neurobiology, which propose that the neurologic and neuropsychiatric manifestations are caused by an altered ratio of excitation to inhibition in the cortex.
Lien vers le texte intégral (Open Access ou abonnement)
4. Ning Z, McLellan AS, Ball M, Wynne F, O’Neill C, Mills W, Quinn JP, Kleinjan DA, Anney RJ, Carmody RJ, O’Keeffe G, Moore T. {{Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region}}. {Human molecular genetics}. 2015 Dec 20;24(25):7450.
Lien vers le texte intégral (Open Access ou abonnement)
5. Ostfeld-Etzion S, Feldman R, Hirschler-Guttenberg Y, Laor N, Golan O. {{Self-regulated compliance in preschoolers with autism spectrum disorder: The role of temperament and parental disciplinary style}}. {Autism : the international journal of research and practice}. 2015 Dec 18.
Regulatory difficulties are common in children with autism spectrum disorder. This study focused on an important aspect of self-regulation-the ability to willingly comply with frustrating demands of socialization agents, termed « self-regulated compliance. » We studied compliance to parental demands in 40 preschoolers with autism spectrum disorder and 40 matched typically developing preschoolers, during separate interactions with mother and father, while engaging in two paradigms: toy pick-up and delayed gratification, which tap the « do » and « don’t » aspects of self-regulated socialization at this age. Parents’ disciplinary style was micro-coded from the two paradigms and child temperament was parent reported. Compared to their typically developing peers, children with autism spectrum disorder showed more noncompliance and less self-regulated compliance to parental demands and prohibitions and greater temperamental difficulties across several domains. No group differences were found in parental disciplinary style. Child self-regulated compliance was associated with parental supportive disciplinary style and with child attention focusing. Findings highlight the importance of parental supportive presence in structuring the development of socialization in children with autism spectrum disorder. Implications for parent-child emotion regulation interventions are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
6. Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A. {{Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism}}. {Pediatrics}. 2015 Dec 18.
BACKGROUND AND OBJECTIVE: Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). METHODS: In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. RESULTS: In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is <7 in 1000 children with ASD. The autism and control groups did not vary in terms of creatine metabolites (P > .0125) in urine. CONCLUSION: Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors.
