Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study.

Introduction: utism spectrum disorder (ASD) is a heterogeneous clinical condition, and its genetic basis is widely confirmed. The chromosomal microarray analysis (CMA) is a first-line diagnostic test that identifies copy number variants (CNVs). Some of these genomic rearrangements are associated with ASD, but the meaning of most of them is still unknown. Materials and methods: We performed a comparative genome hybridization (array-CGH) analysis in 130 children with confirmed ASD. Genetic results were analyzed and compared to clinical phenotype. Results and discussion.: 61/130 children carry CNVs, 44 presenting variants of unknown significance (u-CNVs), and 17 with susceptibility-CNVs (c-CNVs). Clinical evaluation showed no differences in cognitive abilities, language and EEG abnormalities, ASD symptoms among CNVs group and other patients. Finally, we highlight the role of GPHN, IMMP2L and ZMYND11, as ASD susceptibility genes. Conclusions: Our findings underscore the importance of array-CGH in ASD children since new CNVs and emerging genes appear to be associated with different clinical pictures.

Sleep behavior of children with Autism Spectrum Disorder during the Covid-19 pandemic: A Parent survey.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a group of neurodevelopmental conditions characterized by social interaction and communication deficits and restricted, repetitive interests and behaviors (1). It is very common for children with ASD to present with several comorbidities, including sleep disorders. During the Covid-19 pandemic, children with ASD have been particularly at risk of adverse effects because of their difficulties in adapting to changes in daily habits and routines. METHODS AND AIM: Therefore, the aim of our study was to investigate sleep habits during the Covid-19 pandemic by administering the Child Sleep Habits Questionnaire (CSHQ) to parents. RESULTS: Twenty-five children of 28 (89.3%) had a score above 41 during the pandemic. Of these, 11 children also had clinically signifi-cant scores before the pandemic. DISCUSSION: Our data confirm that sleep disturbances have been very common in autistic children during the Covid-19 pandemic and suggest new considerations. In particular, in our clinical sample, sleep habits seemed to improve or not change significantly during the Covid-19 pandemic in a population with a high prevalence of cli-nically significant sleep disturbances. These data confirm that in this particular context, a supportive environment (family, parent training, tele-rehabilitation) is very important for autistic people and a predicta-ble routine can help prevent stress, anxiety, and behavioral problems.