WHODAS-Child: psychometric properties of the WHODAS 2.0 for children and youth among Italian children with autism spectrum disorder.

PURPOSE: A contribution to the Italian adaptation of the original English version of the World Health Organization Disability Assessment Schedule 2.0 for children and youth (WHODAS-Child), proxy-administered among children with autism spectrum disorder (ASD) without intellectual disability. MATERIALS AND METHODS: Observational and retrospective study with within-dependent variables by cross-sectional sampling on psychometric properties (internal consistency and construct/criterion validity) of the 36- and 7-item versions of the Italian WHODAS-Child. The original English version was translated into Italian, also considering the Italian version of the WHODAS 2.0 for adults. The Italian questionnaire was then translated back into English. All authors compared the original and back-translated English versions. The sample was collected among parents and clinicians of 100 children with ASD. To assess convergent/divergent validity, the Autism Diagnostic Observational Schedule (ADOS) was also administered. RESULTS: Cronbach's α for both versions' total scores was good. WHODAS-Child also showed a positive correlation with the three DSM-5 levels of impairment. A pattern of correlations with the ADOS was found for all domains of the WHODAS-Child except for the mobility and self-care domains. CONCLUSIONS: The WHODAS-Child Italian proxy-administered version has the potential to be a reliable and valid tool to measure functional impairment in children with ASD. Implications for rehabilitationWorld Health Organization Disability Assessment Schedule 2.0 for children and youth (WHODAS-Child) has shown to be sensitive in detecting children and youth functioning in the domains of activity and participation.WHODAS-Child Italian version seems to be a reliable and valid tool to measure the functional impairment in children with autism spectrum disorder.A critical issue for rehabilitation is that a single "minimal clinically important difference" score for the WHODAS-Child has not yet been established.

Management of Autism Spectrum Disorder in Italian Units of Child and Adolescent Mental Health: Diagnostic and Referral Pathways.

Overall, the present pilot study provides detailed information on clinical management for Autism Spectrum Disorder (ASD) referral and diagnosis processes that are mandatory for child and adolescent mental health management. The analysis of ASD management, even if carried out on a selected sample of Child and Adolescent Mental Health (CAMH) units, represents a good approximation of how, in Italian outpatient settings, children and adolescents with ASD are recognised and eventually diagnosed. One of the aims of the study was to verify the adherence of Italian CAMH units to international recommendations for ASD referral and diagnosis and whether these processes can be traced using individual chart reports. Overall, the analysis evidenced that Italian CAMH units adopt an acceptable standard for ASD diagnosis, although the reporting of the ASD managing process in the individual chart is not always accurate. Furthermore, data collected suggest some improvements that CAMH units should implement to fill the gap with international recommendations, namely, establishing a multidisciplinary team for diagnosis, improving the assessment of physical and mental conditions by the use of standardised tools, implementing a specific assessment for challenging behaviours that could allow timely and specific planning of intervention.

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.

The most frequent causes of Intellectual Disability (ID)/Autism Spectrum Disorders (ASDs) are chromosomal abnormalities, genomic rearrangements and submicroscopic deletions coupled with duplications. We report here on an 11-year-old girl showing autism, macrocephaly, and facial dysmorphism, in which array-CGH showed a de novo microdeletion of ∼114 Kb in the 14q11.2 chromosomal region, involving the SUPT16H, CHD8, and RAB2B genes. Four patients with ID and/or ASD and/or macrocephaly with overlapping deletions have been previously described: three showed very large rearrangements (>1 Mb), while one had a microdeletion of ∼101 Kb, largely overlapping the one reported herein. The minimal critical region, considering present and previous cases, contains the SUPT16H and CHD8 genes. Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly. Our finding shows the presence of a recurrent microdeletion associated with a clinically recognizable phenotype, and further on underlines the pivotal role of CHD8 gene in the pathogenesis of the disorder.