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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.

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.

This study investigated the prevalence and type of gastrointestinal (GI) and food selectivity (FS) symptoms in 163 preschoolers with ASD, and their possible links with core ASD features and emotional/behavioural problems. 40.5% of children with ASD had at least one severe GI symptom or FS. Preschoolers with and without GI symptoms and with and without FS were significantly different on several emotional/behavioural problems and restrictive/repetitive behaviours, whereas they did not differ significantly on performance IQ and autistic severity. The GI plus FS group presented with Sleep Problems, Self-injurious Behaviors and Anxiety Problems. Results indicated the need for early identification of GI disturbances and FS in order to design tailored intervention for these symptoms frequently associated to challenging behaviours in ASD.

Sensory issues are of great interest in ASD diagnosis. However, their investigation is mainly based on external observation (parent reports), with methodological limitations. Unobtrusive olfactory assessment allows studying autism neurosensoriality. Here, 20 male children with high-functioning ASD and 20 matched controls were administered a complete olfactory test battery, assessing olfactory threshold, identification and discrimination. ASD children show lower sensitivity (p = 0.041), lower identification (p = 0.014), and intact odor discrimination (p = 0.199) than controls. Comparing olfactory and clinical scores, a significant correlation was found in ASD between olfactory threshold and the CBCL social problems (p = 0.011) and aggressive behavior (p = 0.012) sub-scales. The pattern featuring peripheral hyposensitivity, high-order difficulties in odor identification and regular subcortical odor discrimination is discussed in light of hypo-priors hypothesis for autism.

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

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. [ABSTRACT FROM AUTHOR]

It is well documented that the processing of social and emotional information is impaired in people with autism. Recent studies have shown that individuals, particularly those with high functioning autism, can learn to cope with common social situations if they are made to enact possible scenarios they may encounter in real life during therapy. The main aim of this work is to describe an interactive life-like facial display (FACE) and a supporting therapeutic protocol that will enable us to verify if the system can help children with autism to learn, identify, interpret, and use emotional information and extend these skills in a socially appropriate, flexible, and adaptive context. The therapeutic setup consists of a specially equipped room in which the subject, under the supervision of a therapist, can interact with FACE. The android display and associated control system has automatic facial tracking, expression recognition, and eye tracking. The treatment scheme is based on a series of therapist-guided sessions in which a patient communicates with FACE through an interactive console. Preliminary data regarding the exposure to FACE of two children are reported. [ABSTRACT FROM AUTHOR]

BACKGROUND: Synchrony is an essential component of interactive exchanges. In mother-infant interaction, synchrony underlies reciprocity and emotive regulation. A severe lack of synchrony is indeed a core issue within the communication and interaction deficit that characterizes autism spectrum disorders (ASD) in accordance with the DSM-5 classification. Based on emerging evidence that music therapy can improve the communication and regulation ability in children with ASD, we aim to verify quantitatively whether: 1) children with ASD improve synchrony with their therapist during music therapy sessions, and 2) this ability persists in different structured contexts. PARTICIPANTS AND PROCEDURE: Twenty-five children, aged from 4 to 6 years (M = 57.80, SD = 16.70), with an autistic disorder diagnosis based on DSM IV-TR and the Autism Diagnostic Observation Schedule (ADOS), participated in the study. An observational tool for coding behaviors and emotive states of synchrony (Child Behavioral and Emotional status Code [CBEC] and Adult Behavioral and Emotional status Code [ABEC]) was applied in video recorded sessions of improvisational music therapy (IMT) for the subject-therapist pair. For each subject, we considered the 20 central minutes of the first, tenth and twentieth session of IMT. To verify the persistence of effect in a different context with a different adult, we administered and coded the interactive ADOS section (anticipation of a routine with objects) applied after session 20 of therapy. RESULTS: During the IMT cycle, the amount of synchronic activity increases, with a significant difference from Session 1 to Session 20 in behavioral synchrony and emotional attunement. Also, the increase of synchrony is confirmed at the end of the therapy cycle as measured by an interactive ADOS section. CONCLUSIONS: Synchrony is an effective indicator of efficacy for music therapy in children with ASD, in particular to evaluate the expansion of positive emotive exchanges. [ABSTRACT FROM AUTHOR]

People with ASD (Autism Spectrum Disorders) have difficulty in managing interpersonal relationships and common life social situations. A modular platform for Human Robot Interaction and Human Machine Interaction studies has been developed to manage and analyze therapeutic sessions in which subjects are driven by a psychologist through simulated social scenarios. This innovative therapeutic approach uses a humanoid robot called FACE capable of expressing and conveying emotions and empathy. Using FACE as a social interlocutor the psychologist can emulate real life scenarios where the emotional state of the interlocutor is adaptively adjusted through a semi closed loop control algorithm which uses the ASD subject's inferred "affective" state as input. Preliminary results demonstrate that the platform is well accepted by ASDs and can be consequently used as novel therapy for social skills training.