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Background: Toddlers with autism spectrum disorder (ASD) show higher prevalence and severity of Behavioral and Emotional Problems (BEP) than their peers without ASD., Aims: Investigating the effects of parental factors, i.e., mothers' and fathers' age and Sociocultural Level (Socioeconomic Status, Cultural Capital, and Social Capital), and individual factors, i.e., toddles' age, birth order, general development, autism symptom severity, and adaptive behavior, on the expression of BEP in toddlers with ASD., Methods: Participants were 148 toddlers with ASD (aged 18-37 months) and both their parents. BEP were measured with the Child Behavior Checklist 1½-5 (CBCL) Syndrome and Pervasive developmental problems (PDD) DSM-oriented scales, general development with the Griffiths Mental Development Scales (GMDS), autism symptom severity with the Autism Diagnostic Observation Schedule-2 (ADOS-2), and adaptive behavior with the Vineland-II Adaptive behavior composite., Results: Vineland-IIAdaptive behavior composite was negatively associated with the majority of the CBCL scales. In contrast, the ADOS-2 Restrictive and repetitive behavior was negatively and the ADOS-2 Social affect, toddlers' age, and birth order were positively associated with only a few of the CBCL scales (e.g., PDD). GMDS scores were not associated with any CBCL scales. Mothers' age and fathers' Cultural Capital and Social Capital dimensions were negatively associated with specific CBCL scales, even when considered in addition to individuals' factors., Conclusions: Individual and parental factors simultaneously affect the expression of BEP and should be considered for clinical decisions., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

The effects of environmental factors [including Socio-Economic Status, Cultural Capital, and Social Capital (Socio-Cultural Level) of both parents] on the Vineland-II adaptive behavior dimensions of toddlers with autism spectrum disorder (ASD), in addition to individual factors, was investigated in 148 Italian toddlers (82% males), aged 18 to 37 months with ASD. Toddlers' age and Griffiths Mental Development Scales general development affected all of the adaptive behavior dimensions, with negative and positive associations, respectively. The Child Behavior Checklist comorbid conditions were negatively associated with some adaptive behavior dimensions while the ADOS-2 Social affect only with the communication dimension. Mothers' and fathers' specific Socio-Cultural Level dimensions were positively associated with toddlers' specific adaptive behavior dimensions with the same magnitude as comorbid conditions., (© 2020. The Author(s).)

Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and heterogeneous genetic etiology. While a proportion of ASD risk is attributable to common variants, rare copy-number variants (CNVs) and protein-disrupting single-nucleotide variants (SNVs) have been shown to significantly contribute to ASD etiology. We analyzed a homogeneous cohort of 127 ASD Italian families genotyped with the Illumina PsychArray, to perform an integrated analysis of CNVs and SNVs and to assess their contribution to ASD risk. We observed a higher burden of rare CNVs, especially deletions, in ASD individuals versus unaffected controls. Furthermore, we identified a significant enrichment of rare CNVs intersecting ASD candidate genes reported in the SFARI database. Family-based analysis of rare SNVs genotyped by the PsychArray also indicated an increased transmission of rare SNV variants from heterozygous parents to probands, supporting a multigenic model of ASD risk with significant contributions of both variant types. Moreover, our study reinforced the evidence for a significant role of VPS13B, WWOX, CNTNAP2, RBFOX1, MACROD2, APBA2, PARK2, GPHN, and RNF113A genes in ASD susceptibility. Finally, we showed that the PsychArray, besides providing useful genotyping data in psychiatric disorders, is a valuable and cost-efficient tool for genic CNV detection, down to 10 kb.

We studied episodic memory and future thinking for self-relevant and other-relevant events at different levels of retrieval support, theory of mind, and delay discounting in ASD children and adolescents (ASDs). Compared to typically developing controls, ASDs produced fewer internal (episodic) but a similar number of external (semantic) details while remembering past events, imagining future events, and imagining future events happening to others, indicating a general impairment of event construction. This deficit was driven by group differences under high retrieval support, and therefore unlikely to depend on self-initiated retrieval/construction deficits. ASDs' event construction impairment related to the severity of ASD symptoms, and to theory of mind deficits. ASDs, however, showed normal delay discounting, highlighting preserved forms of future-based decision-making in ASD.

Importance: Music therapy may facilitate skills in areas affected by autism spectrum disorder (ASD), such as social interaction and communication., Objective: To evaluate effects of improvisational music therapy on generalized social communication skills of children with ASD., Design, Setting, and Participants: Assessor-blinded, randomized clinical trial, conducted in 9 countries and enrolling children aged 4 to 7 years with ASD. Children were recruited from November 2011 to November 2015, with follow-up between January 2012 and November 2016., Interventions: Enhanced standard care (n = 182) vs enhanced standard care plus improvisational music therapy (n = 182), allocated in a 1:1 ratio. Enhanced standard care consisted of usual care as locally available plus parent counseling to discuss parents' concerns and provide information about ASD. In improvisational music therapy, trained music therapists sang or played music with each child, attuned and adapted to the child's focus of attention, to help children develop affect sharing and joint attention., Main Outcomes and Measures: The primary outcome was symptom severity over 5 months, based on the Autism Diagnostic Observation Schedule (ADOS), social affect domain (range, 0-27; higher scores indicate greater severity; minimal clinically important difference, 1). Prespecified secondary outcomes included parent-rated social responsiveness. All outcomes were also assessed at 2 and 12 months., Results: Among 364 participants randomized (mean age, 5.4 years; 83% boys), 314 (86%) completed the primary end point and 290 (80%) completed the last end point. Over 5 months, participants assigned to music therapy received a median of 19 music therapy, 3 parent counseling, and 36 other therapy sessions, compared with 3 parent counseling and 45 other therapy sessions for those assigned to enhanced standard care. From baseline to 5 months, mean ADOS social affect scores estimated by linear mixed-effects models decreased from 14.08 to 13.23 in the music therapy group and from 13.49 to 12.58 in the standard care group (mean difference, 0.06 [95% CI, -0.70 to 0.81]; P = .88), with no significant difference in improvement. Of 20 exploratory secondary outcomes, 17 showed no significant difference., Conclusions and Relevance: Among children with autism spectrum disorder, improvisational music therapy, compared with enhanced standard care, resulted in no significant difference in symptom severity based on the ADOS social affect domain over 5 months. These findings do not support the use of improvisational music therapy for symptom reduction in children with autism spectrum disorder., Trial Registration: isrctn.org Identifier: ISRCTN78923965.

Restricted repetitive and stereotyped patterns of behavior, interests, and activities (RRB) are mandatory features for a diagnosis of Autism Spectrum Disorder (ASD) according to the Diagnostic and Statistical Manual of mental disorders-fifth edition (DSM-5). Despite the strong diagnostic role of RRB, their expressiveness and their relationship with other clinical/demographic features in ASD is not fully elucidated. The Italian version of the Repetitive Behavior Scale-Revised (RBS-R) was applied to a relatively large sample of preschool-aged children with ASD who underwent a comprehensive clinical assessment. The relationship between RRB and sex, age, non-verbal IQ, autism severity, as well as the diagnostic accuracy of the RBS-R were explored. Stereotyped and Ritualistic/Sameness behaviors were the most common RRB in preschoolers with ASD, without widespread differences between males and females. No significant correlations between RRB and chronological age, or non-verbal IQ were detected. The expressiveness of ritualistic/sameness behaviors positively correlated with autism severity, assessed through the Calibrated Severity Score (CSS) derived from the Autism Diagnostic Observation Schedule (ADOS). Receiver Operator Characteristic (ROC) analysis showed high diagnostic accuracy using the Global Rating Score, which represents the judgment of the parents of as the RRB affect the child's life. However, while the Global Rating Score performed well, the remaining subscales did not. This investigation extends the limited research on early pattern and associated features of RRB in young children with ASD. The use of the RBS-R may increase the knowledge of the RRB complexity and variability and in turn improve the diagnostic and therapeutic procedures within the autistic spectrum., (Copyright © 2015 Elsevier Ltd. All rights reserved.)