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.

Use of the PARO robot as a social mediator in a sample of children with neurodevelopmental disorders and typical development.

Background: Social robotics is a research field aimed at providing robots with skills related to social behavior and natural human interaction. Many studies have demonstrated the efficacy of these robots as socio-communicative mediators. Others have used them to create a new communication channel and promote social interaction in chil-dren with autism spectrum disorder (ASD). For children with ASD prolonged interpersonal interaction can sometimes generate extreme frustration. They may find it difficult to focus their attention and learn social skills. The robot may therefore become a reliable and more predictable technological intermediary for the child. Methods: Our study involved the use of the PARO seal robot as a social mediator in groups of children with neurodevelopmental disorders. We aimed to investigate whether the social robot could facilitate relationships with adults in children with neurodevelopmental disorders by comparing their interactions with those of typically developing children. Results: The results of our research partially confirm what has been reported in the existing literature, while introducing some innovations that could be addressed by future research. The results of the statistical analysis show a positive correlation in the 'interaction' dimension and the presence of the PARO seal in subjects diagnosed with autism without intellectual impairment. These data highlight the PARO robot's ability to facilitate communication and social. Conclusions: The results of the present study confirm that social robotics can be a valid tool to improve socio-communication skills in clinical samples of children with autism without intellectual impai-rment.

Is it hyperlexia? Toward a deeper understanding of precocious reading skills in two cases of children with Autism Spectrum Disorder.

BACKGROUND: Hyperlexia is defined by a precocious and sponta-neously acquired ability to read at preschool age. Hyperlexia appears to be a wide yet not highly studied phenomenon involving different populations and possibly including children with different neuropsy-chological profiles and outcomes. METHODS: We describe two clinical cases of unrelated children diagnosed with Autism Spectrum Disorder (ASD) who both showed precocious and spontaneous reading ability. We report the neuropsy-chological assessment they underwent. RESULTS: Both children showed above average IQ, reading skills, and text comprehension, whereas one showed below average comprehen-sion only in oral text. We question whether these two phenotypes can be considered forms of hyperlexia, as defined by the most recent and consistent observations, or a subtype of ASD with hyperlexia. CONCLUSION: We conclude that our patients should be considered hyperlexic ASD, with interesting potential implications for progno-sis and rehabilitation.

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.

What if sharing music as a language is the key to meeting halfway? Absolute pitch, pitch discrimination and Autism Spectrum Disorder.

BACKGROUND: Absolute pitch is the ability to identify a given note in the absence of a reference note. The prevalence of absolute pitch in autism is between 5% and 11% and autism involves notably enhanced abilities in pitch discrimination. OBJECTIVES: To summarize the evidence about the role and the meaning of these special skills in autism. METHODS: Systematic electronic database searches were conducted using Pubmed, Scopus, Psycinfo, and Web of Science. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRI-SMA) guideline was followed, and, after thorough screening by two independent reviewers, 17 articles remained eligible for inclusion in this study. RESULTS: We have two different groups of results. Eight case-control studies discuss pitch discrimination and autism. The second group included four case reports about autistic individuals with absolute pitch and five case-control studies. These results strongly suggest that music elicits special attention for children with autism, and taken together, this evidence supports a major frequency of AP in autistic children. CONCLUSION: Based on this evidence, future perspectives could include studies aiming to detect absolute pitch at an early age and to use this special skill to stimulate joint attention, as well as socio-communicative skills.

Depressive disorder in preschool children: patterns of affective organization.

In the present study the authors attempt to identify the pattern of depressive problems in children aged 3 to 6 years by employing a new rating scale (The Preschool Children Depression Checklist). Depressive symptoms were expressed in the form of 32 questions that cover an array of depressive behaviors as manifested in this age range. A factor analysis was carried out on 156 checklists submitted to the teachers of the control group in order to identify early affective behavioral patterns of the depressive disorder. Results confirmed the hypothesis that a coherent emotional structure underpins children's manifest behaviors. Three factors were empirically derived. These factors seem to be particularly important since statistical comparison showed significant differences among factor scores of a sample of children who met diagnosis of depression, a sample of children who met diagnosis of anxiety disorder, a sample of control children.

Depressive disorder in pre-adolescence: comorbidity or different clinical subtypes? (A pharmacological contribution).

The study consisted of evaluating 80 out-patients for DSM-IV diagnoses and giving 75 mg trazodone for four months to children aged 9-13 who fulfilled DSM-IV criteria for Major Depressive Disorder (n = 22); Major Depressive Disorder and Generalized Anxiety Disorder (n = 24), Major Depressive Disorder and Learning Disorder NOS (n = 24); Major Depressive Disorder and Oppositional Defiant Disorder (n = 10). They were followed up weekly by a psychiatrist blind to the original evaluations and to the precise purpose of the study. Trazodone emerges as safe and effective for over 50% of the sample. Those with depression alone and with LD NOS did particularly well, and those with ODD did particularly badly. The presence of psychopathology in the parents was associated with poorer response to trazodone, and life events were also associated with a poor response.

[Cognitive and neuropsychological profiles in malformation syndromes: a comparison between Down's syndrome and Williams' syndrome within a follow-up]. / Studio dei profili cognitivi e neuropsicologici nelle sindromi malformative: confronto tra sindrome di Down e sindrome di Williams all'interno di un follow-up.

The present work compares the neuropsychological and cognitive profiles of 4 children with the Williams and Down syndrome. The Authors stress the importance of an accurate analysis of each child's developmental story. They monitor children with physical malformations associated to Mental Retardation or other psychopathological problems in order to have a better understanding of their cognitive strategies and true potential and of their social and emotional implications. This procedure allows immediate action to be taken as soon as physical, emotional or cognitive problems arise. It also enables parents to be fully aware of their children's problems and to be able to meet their different developmental needs.