Autism Diagnostic Interview-Revised Research Articles

Predicting the diagnosis of autism in adults using the Autism-Spectrum Quotient (AQ) questionnaire.

Many adults with autism spectrum disorder (ASD) remain undiagnosed. Specialist assessment clinics enable the detection of these cases, but such services are often overstretched. It has been proposed that unnecessary referrals to these services could be reduced by prioritizing individuals who score highly on the Autism-Spectrum Quotient (AQ), a self-report questionnaire measure of autistic traits. However, the ability of the AQ to predict who will go on to receive a diagnosis of ASD in adults is unclear. We studied 476 adults, seen consecutively at a national ASD diagnostic referral service for suspected ASD. We tested AQ scores as predictors of ASD diagnosis made by expert clinicians according to International Classification of Diseases (ICD)-10 criteria, informed by the Autism Diagnostic Observation Schedule-Generic (ADOS-G) and Autism Diagnostic Interview-Revised (ADI-R) assessments. Of the participants, 73% received a clinical diagnosis of ASD. Self-report AQ scores did not significantly predict receipt of a diagnosis. While AQ scores provided high sensitivity of 0.77 [95% confidence interval (CI) 0.72-0.82] and positive predictive value of 0.76 (95% CI 0.70-0.80), the specificity of 0.29 (95% CI 0.20-0.38) and negative predictive value of 0.36 (95% CI 0.22-0.40) were low. Thus, 64% of those who scored below the AQ cut-off were 'false negatives' who did in fact have ASD. Co-morbidity data revealed that generalized anxiety disorder may 'mimic' ASD and inflate AQ scores, leading to false positives. The AQ's utility for screening referrals was limited in this sample. Recommendations supporting the AQ's role in the assessment of adult ASD, e.g. UK NICE guidelines, may need to be reconsidered.

Effect of gluten free diet on gastrointestinal and behavioral indices for children with autism spectrum disorders: a randomized clinical trial

Genetic and environmental factors are both responsible for the etiology of autism spectrum disorders (ASD). Although epidemiological studies have been conducted to clarify the association between restriction diets and ASD, the conclusion remains unclear. This study was undertaken to investigate the effect of gluten free diet (GFD) on gastrointestinal symptoms and behavioral indices in children with ASD. In this randomized clinical trial, 80 children diagnosed with ASD by the Autism Diagnostic Interview-Revised (ADI-R) were assigned into GFD (n=40) and regular diet (RD) (n=40) groups for 6 weeks. At the beginning and end of the intervention, the ROME Ш questionnaire for evaluating gastrointestinal symptoms and Gilliam Autism Rating Scale 2 questionnaire (GARS-2) for assessing psychometric properties were completed. Of the 80 children, 53.9% had gastrointestinal abnormalities. In the GFD group, the prevalence of gastrointestinal symptoms decreased significantly (P<0.05) after intake of GFD (40.57% vs. 17.10%) but increased insignificantly in the RD group (42.45% vs. 44.05%). GFD intervention resulted in a significant decrease in behavioral disorders (80.03±14.07 vs. 75.82±15.37, P<0.05) but an insignificant increase in the RD group (79.92±15.49 vs. 80.92±16.24). This study suggested that GFD may be effective in controlling gastrointestinal symptoms and ASD behaviors.

The autism symptom interview, school-age: A brief telephone interview to identify autism spectrum disorders in 5-to-12-year-old children.

This study reports on the initial validation of the Autism Symptom Interview (ASI), School-Age, a brief (15-20 min) phone interview derived from questions from the Autism Diagnostic Interview-Revised (ADI-R). The ASI, School-Age was administered by interviewers with minimal training to parents of children ages 5 to 12 who had all been previously identified with (or referred for assessment of) ASD or another neurodevelopmental disorder. Children then underwent a comprehensive assessment to determine a best-estimate clinical diagnosis of ASD (n = 159) or non-ASD (e.g. language disorder, intellectual disability, ADHD; n = 130). Clinicians who conducted the assessments were blind to ASI results. ROC analyses compared ASI scores to clinical diagnosis. Due to the small number of participants with non-ASD diagnoses who were classified as nonverbal (i.e. not yet using phrases on a daily basis), it was not possible to assess sensitivity and specificity of the nonverbal algorithm in this sample. The verbal algorithm yielded a sensitivity of 0.87 (95% CI = 0.81-0.92) and a specificity of 0.62 (95% CI = 0.53-0.70). When used in conjunction with the Autism Diagnostic Observation Schedule (ADOS), sensitivity and specificity were 0.82 (95% CI = 0.74-0.88) and 0.92 (95% CI = 0.86-0.96), respectively. Internal consistency and test-retest reliability were both excellent. Particularly for verbal school age children, the ASI may serve as a useful tool to more quickly ascertain or classify children with ASD for research or clinical triaging purposes. Additional data collection is underway to determine the utility of the ASI in children who are younger and/or nonverbal. Autism Res 2017, 10: 78-88. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

A.02 Clinical clues for autoimmunity in the etiology of autistic regression

Background: Autistic regression (AR) accounts for 20-40% of patients with Autism Spectrum Disorder (ASD) .1 Literature demonstrates specific immune changes in AR patients,2 as well as association between AR and autoimmune thyroiditis.3 Our study explores the clinical association between AR and autoimmunity, focusing on possible precipitants and familial autoimmunity, in comparison with patients with infantile autism (IA). Methods: charts of children diagnosed with ASD in 2014 were reviewed, and patients were classified as either AR or IA based on Autism Diagnostic Interview (ADI-R) criteria.4 Information regarding pregnancy, perinatal complications, febrile illness preceding the diagnosis, and family history of autoimmune conditions was collected. Results: 206 children had IA and 33 had AR. No difference was found in prevalence of pregnancy or perinatal complications. The incidence of febrile illness in the 6 months prior to diagnosis and the prevalence of familial autoimmunity, were significantly higher in the AR group (p&lt;0.001). Diabetes type I, celiac disease, autoimmune thyroiditis, and inflammatory bowel disease were more common in families of AR patients (p&lt;0.05). Conclusions: the association between AR and preceding febrile illness, as well as familial autoimmunity, supports the notion of AR as a separate entity within ASD, possibly mediated by autoimmune changes.

Prevalence and associated features of autism spectrum disorder in extremely low gestational age newborns at age 10 years.

We sought to estimate the prevalence of autism spectrum disorder (ASD) in children born extremely preterm relative to the U.S. population risk of 1.5% [CDC, 2014] using the best-available diagnostic procedures and minimizing confounding with other neurodevelopmental impairments. Eight hundred and eighty nine of 966 (92%) 10-year-old children from the Extremely Low Gestational Age Newborn birth cohort, delivered at 23-27 weeks gestation in 2002-2004, participated. Children meeting ASD screening criteria on the Social Communication Questionnaire were evaluated with the Autism Diagnostic Interview-Revised (ADI-R). Those meeting ADI-R criteria were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). A positive ADOS-2 score was the criterion for ASD. Twenty-six participants were not assessed for ASD because of severe sensory or motor impairment. In the remaining sample, 61 children met criteria for ASD, resulting in a prevalence of 7.1% (95% CI = 5.5-9.0). ASD risk decreased with increasing gestational age, from 15.0% (95% CI = 10.0-21.2) for 23-24 weeks, 6.5% (95% CI = 4.2-9.4) for 25-26 weeks, to 3.4% (95% CI = 1.6-6.1) for 27 weeks gestational age, and this association was independent of IQ. Among children with ASD, 40% had intellectual disability. The male-to-female ratio of children with ASD was 2.1:1 (95% CI = 1.2:1-3.5:1), lower than in the general population (4:1). ASD prevalence in the ELGAN cohort was four times higher than in the general population, and was strongly associated with gestational age, underscoring the need for enhanced ASD screening of children born preterm, and suggesting that some risk factors associated with preterm birth may also play a role in the etiology of autism. Autism Res 2017, 10: 224-232. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.

Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy. Autism spectrum disorder (ASD) and, often, cognitive profile are usually assessed clinically. We studied autism phenotype and cognitive outcome in a series of patients using standardized tools for development and ASD. We aimed to describe the phenotype of ASD in this series and to understand whether ASD is strictly linked to intellectual disability (ID) or is present as a comorbidity. Eight females aged 5 to 17years old with PCDH-19 mutations and epilepsy were recruited. For ASD diagnosis, the Autism Diagnostic Interview - Revised (ADI-R) and the Autism Diagnosis Observation Schedule (ADOS) were administered. Patients underwent a neuropsychological examination with tests measuring global intellectual efficiency (WPPSI-III and WISC-IV), language, and executive and social cognition abilities. Parental adaptive behavioral questionnaires were also obtained (VABS, CBCL, and BRIEF). Six out of eight patients presented with ASD and ID. Two patients had neither ASD nor ID, and both had the latest age of onset for their epilepsy. All cognitive functions were deficient, but theory-of-mind abilities compared to other cognitive features were even impaired. Features of ASD lacked major repetitive and stereotyped behaviors and show some differences with the classical ASD features related to ID. Our results show a large spectrum of ID and a very high rate of ASD in patients with epilepsy and PCDH-19 mutations. Autism spectrum disorder seems to be a genuine comorbidity, more than a consequence of ID. It highlights the importance of standardized psychiatric and cognitive evaluation in order to establish a tailored rehabilitation program.

Use of machine learning to improve autism screening and diagnostic instruments: effectiveness, efficiency, and multi-instrument fusion.

Machine learning (ML) provides novel opportunities for human behavior research and clinical translation, yet its application can have noted pitfalls (Bone etal., 2015). In this work, we fastidiously utilize ML to derive autism spectrum disorder (ASD) instrument algorithms in an attempt to improve upon widely used ASD screening and diagnostic tools. The data consisted of Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) scores for 1,264 verbal individuals with ASD and 462 verbal individuals with non-ASD developmental or psychiatric disorders, split at age 10. Algorithms were created via a robust ML classifier, support vector machine, while targeting best-estimate clinical diagnosis of ASD versus non-ASD. Parameter settings were tuned in multiple levels of cross-validation. The created algorithms were more effective (higher performing) than the current algorithms, were tunable (sensitivity and specificity can be differentially weighted), and were more efficient (achieving near-peak performance with five or fewer codes). Results from ML-based fusion of ADI-R and SRS are reported. We present a screener algorithm for below (above) age 10 that reached 89.2% (86.7%) sensitivity and 59.0% (53.4%) specificity with only five behavioral codes. ML is useful for creating robust, customizable instrument algorithms. In a unique dataset comprised of controls with other difficulties, our findings highlight the limitations of current caregiver-report instruments and indicate possible avenues for improving ASD screening and diagnostic tools.

The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome.

This paper examines how COMT158 genotypes and plasma proline levels are associated with variable penetrance of social behavioural and social cognitive problems in 22q11.2 deletion syndrome (22q11DS). Severity of autistic spectrum symptoms of 45 participants with 22q11DS was assessed using the Autism Diagnostic Interview Revised. Face and facial emotion recognition was evaluated using standardized computer-based test-paradigms. Associations with COMT158 genotypes and proline levels were examined. High proline levels and poor face recognition in individuals with the COMTMET allele, and poor facial emotion recognition, explained almost 50% of the variance in severity of autism symptomatology in individuals with 22q11DS. High proline levels and a decreased capacity to break down dopamine as a result of the COMTMET variant are both relevant in the expression of the social phenotype in patients. This epistatic interaction effect between the COMT158 genotype and proline on the expression of social deficits in 22q11DS shows how factors other than the direct effects of the deletion itself can modulate the penetrance of associated cognitive and behavioural outcomes. These findings are not only relevant to our insight into 22q11DS, but also provide a model to better understand the phenomenon of variable penetrance in other pathogenic genetic variants.

Detecting Autism Spectrum Disorder in Children With ADHD and Social Disability

Objective: The social disability associated with ADHD often makes diagnostic and treatment decision making challenging. This protocol investigates the test performance of the Autism Mental Status Exam (AMSE) in detecting autism spectrum disorder (ASD) in a sample of 45 children with ADHD and ASD symptomatology. The AMSE is a brief ASD diagnostic assessment administered in the context of a clinical exam. Method: All participants received a developmental evaluation, including the AMSE, followed by independent gold standard diagnostic assessments including the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview–Revised (ADI-R). Results: Receiver operating characteristics (ROC) curve analysis indicated strong sensitivity and specificity in this population. Optimal cutoff scores are provided. Conclusion: The AMSE holds promise as a brief ASD assessment tool for children with ADHD and ASD symptomatology and as a guide for treatment and referral decisions at the point of care.

Étude des facteurs de risque des comportements agressifs dans les troubles du spectre autistique

BackgroundWhen coping with auto- and hetero-aggressive behavior in children with autism spectrum disorders, the child psychiatrist has a double role: treating these behaviors as well as identifying at risk persons and situations. ObjectivesIn this perspective, our work aimed to study the risk factors of auto- and hetero-agressivity in behavioral self-hetero-aggressive. MethodsWe conducted a transversal study of 50 children with autism spectrum disorder (DSM-5 criteria). The diagnosis was confirmed by the Autism Diagnostic Interview-Revised (ADI-R). The severity of autism was determined by the Childhood Autism Rating Scale (CARS). Aggressive behaviors were assessed by the Behavior Problems Inventory (BPI-01) translated and validated in Arabic. The psycho-educational profile revised (PEP-R) evaluated, through the seven domains of development, the developmental age of each child. A predetermined plug collected information on the epidemiological and clinical characteristics. To determine the risk factors associated with aggressive behaviors, we conducted a univariate followed by a multivariate analysis. ResultsOur sample consisted of 50 children with ASD in accordance to DSM-5 criteria. The sex ratio was 4.5. Patients had an average age of 6 years (SD: 2) with extremes ranging from 2 to 12 years. Mean CARS score was 37.1 (SD: 7). Twenty percent of the children had a high functioning form of autism while the rest of the sample presented mild to moderate intellectual disability. The prevalence of auto-aggressive behavior was 46% and that of hetero-aggressiveness was of 60%. The univariate analysis found the following results. A statistically significant association was found between self-harm and the following factors: a higher age (P=0.007), a later age of diagnosis (P=0.006), digestive disorders (P=0.026; OR=4.28; 95% CI=1.1–16), high pain threshold (P=0.007; OR=5.8; 95% CI=1.5–21.8), intellectual disability (P=0.004), a lower score of perception at the PEP-R (P=0.045), and a higher score on the ADI-D (P=0.001). A statistically significant association was found between hetero-aggressive behavior and the following factors: a higher age (P=0.042) and the absence of the “no” opposition (P=0.017; OR=0. 1; 95% CI=0.1–0.9). The multivariate analysis isolated three independent factors for self-harm: a higher age (P=0.011; adjusted OR=1.05; 95% CI=1.01–1.09), digestive disorders (P=0.016; adjusted OR=17.5; 95% CI=1.7–1.80), intellectual disabilities (P=0.008; adjusted OR=0.9; 95% CI=0.8–0.9); and two independent factors for hetero-aggressiveness: a higher age (P=0.039; adjusted OR=1.03; 95% CI=1–1.06) and the absence of the “no” opposition (P=0.008; adjusted OR=0.1; 95% CI=0.02–0.56). ConclusionThese data invite us to consider the aggressiveness as a multifactorial behavior and to analyze aggressive behavior in light of the complex set of interactions between an individual and his environment.

Classifying Autism Spectrum Disorders by ADI-R: Subtypes or Severity Gradient?

To reduce phenotypic heterogeneity of Autism spectrum disorders (ASD) and add to the current diagnostic discussion this study aimed at identifying clinically meaningful ASD subgroups. Cluster analyses were used to describe empirically derived groups based on the Autism Diagnostic Interview-revised (ADI-R) in a large sample of n=463 individuals with ASD aged 3-21. Three clusters were observed. Most severely affected individuals regarding all core symptoms were allocated to cluster 2. Cluster 3 comprised moderate symptom severity of social communication impairments (SCI) and less stereotyped repetitive behavior (RRB). Minor SCI and relatively more RRB characterized cluster 1. This study offers support for both, a symptom profile, and a gradient model of ASD within the spectrum due to the sample included.

Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders.

BackgroundRestricted and Repetitive Behaviors (RRB), one of the core symptom categories for Autism Spectrum Disorders (ASD), comprises heterogeneous groups of behaviors. Previous research indicates that there are two or more factors (subcategories) within the RRB domain. In an effort to identify common variants associated with RRB, we have carried out a genome-wide association study (GWAS) using the Autism Genetic Resource Exchange (AGRE) dataset (n = 1,335, all ASD probands of European ancestry) for each identified RRB subcategory, while allowing for comparisons of associated single nucleotide polymorphisms (SNPs) with associated SNPs in the same set of probands analyzed using all the RRB subcategories as phenotypes in a multivariate linear mixed model. The top ranked SNPs were then explored in an independent dataset.ResultsUsing principal component analysis of item scores obtained from Autism Diagnostic Interview-Revised (ADI-R), two distinct subcategories within Restricted and Repetitive Behaviors were identified: Repetitive Sensory Motor (RSM) and Insistence on Sameness (IS). Quantitative RSM and IS scores were subsequently used as phenotypes in a GWAS using the AGRE ASD cohort. Although no associated SNPs with genome-wide significance (P < 5.0E-08) were detected when RSM or IS were analyzed independently, three SNPs approached genome-wide significance when RSM and IS were considered together using multivariate association analysis. These included the top IS-associated SNP, rs62503729 (P-value = 6.48E-08), which is located within chromosome 8p21.2-8p21.1, a locus previously linked to schizophrenia. Notably, all of the most significantly associated SNPs are located in close proximity to STMN4 and PTK2B, genes previously shown to function in neuron development. In addition, several of the top-ranked SNPs showed correlations with STMN4 mRNA expression in adult CEU (Caucasian and European descent) human prefrontal cortex. However, the association signals within chromosome 8p21.2-8p21.1 failed to replicate in an independent sample of 2,588 ASD probands; the insufficient sample size and between-study heterogeneity are possible explanations for the non-replication.ConclusionsOur analysis indicates that RRB in ASD can be represented by two distinct subcategories: RSM and IS. Subsequent univariate and multivariate genome-wide association studies of these RRB subcategories enabled the detection of associated SNPs at 8p21.2-8p21.1. Although these results did not replicate in an independent ASD dataset, genomic features of this region and pathway analysis suggest that common variants in 8p21.2-8p21.1 may contribute to RRB, particularly IS. Together, these observations warrant future studies to elucidate the possible contributions of common variants in 8p21.2-8p21.1 to the etiology of RSM and IS in ASD.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-016-2475-y) contains supplementary material, which is available to authorized users.

Practices of Tunisian professionals in the diagnosis of autism

Introduction The diagnosis of autism spectrum disorders is complex. Recommendations for good medical practice in the diagnosis exist. The objective of this study is to evaluate the practices of Tunisian professionals in the diagnosis of autism. Methodology We conducted a cross-sectional, descriptive study of 40 professionals involved in the diagnosis of autism, in all of Tunisia. Participants were recruited by e-mail, and received questionnaires. The anonymity was respected. This questionnaire was used to collect information about the practices of professionals in the diagnosis of autism. Results Participants were child psychiatrists in 69.2% of cases, pediatric neurologists in 12.9% of cases, psychiatrists in 10.3% of cases, psychologists in 5.1% of cases, and speech therapists in 5, 1% of cases. For the diagnosis of autism, professionals use diagnostic scales in 87.2% of cases with use of CARS in 53.8% of cases and the ADI-R in 7.7% of cases. Prescribing para-clinical investigations was noted in 94.9% of participants. It was systematic in 61.5% of cases. It was auditory evoked potential in 87.2% of cases, electroencephalogram in 66.7% of cases, a complete physical examination in 51.3% of cases, a genetic examination in 30% of cases, a brain MRI in 15.4% of cases, a specialized neurological examination in 12.8% of cases, and an ophthalmological examination in 2.6% of cases. Conclusion The results of this study point out that the use of scales, testing and prescription of not para-clinical investigations is not done systematically. This can be improved by familiarizing professionals with the recommendations of the literature.

Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity and Specificity in Early Childhood.

Changes to the DSM-5 Autism Spectrum Disorder (ASD) criteria raised concerns among parents and practitioners that the criteria may exclude some children with Pervasive Developmental Disorder (PDD). Few studies have examined DSM-5 sensitivity and specificity in children less than 5years of age. This study evaluated 185 children aged 20-55months with DSM-IV PDD or developmental delay. Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) data was assigned to DSM-5 subdomains. Children displaying the required symptomatology were classified with DSM-5 ASD. DSM-IV clinical diagnoses were compared to DSM-5 classifications. Using combined ADI-R/ADOS information, sensitivity was .84 and specificity was .54. Comorbid behaviour and emotional problems were significantly lower in children with PDD that did not meet DSM-5 criteria.

Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.

Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01-1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview - revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). Autism Res 2016, 9: 1036-1045. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Autism in Phenylketonuria Patients

Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms' evolution.

Clinical Validity of the ADI-R in a US-Based Latino Population.

The Autism Diagnostic Interview-Revised (ADI-R) has been validated as a tool to aid in the diagnosis of Autism; however, given the growing diversity in the United States, the ADI-R must be validated for different languages and cultures. This study evaluates the validity of the ADI-R in a US-based Latino, Spanish-speaking population of 50 children and adolescents with ASD and developmental disability. Sensitivity and specificity of the ADI-R as a diagnostic tool were moderate, but lower than previously reported values. Validity of the social reciprocity and restrictive and repetitive behaviors domains was high, but low in the communication domain. Findings suggest that language discordance between caregiver and child may influence reporting of communication symptoms and contribute to lower sensitivity and specificity.

Brain Diffusion Tensor Imaging and Volumetric Analysis: Grey and White Matter Changes in Preschool Children with Autism Spectrum Disorder

We aimed to investigate whether DTI metrics and volumetric analysis could detect regional abnormalities in young Autism Spectrum Disorder (ASD) children. A sample of 22 pre-school children affected by ASD and a group of 10 age-matched controls underwent a conventional and advanced MRI protocol, including DTI and 3D T1- weighted imaging. Volumetric analysis revealed no significant differences between the ASD children and the controls, while the DTI results suggested an early involvement of both the cerebellum and the supratentorial grey matter (GM) in young ASD children, with fractional anisotropy (FA) emerging the most sensitive parameter.GM-FA changes correlated with Autism Diagnostic Observation Schedule-Generic (ADOS-G) and the Autism Diagnostic Interview-Revised (ADI-R). Further investigation in a larger sample is warranted in order to confirm a potential primary role of GM versus WM changes in the complex aetiopathogenesis of ASD.

Plasma Oxytocin in Children with Autism and Its Correlations with Behavioral Parameters in Children and Parents.

ObjectiveOxytocin (OT) has been implicated to play an important role in autism spectrum disorders (ASD) etiology. We aimed to find out the differences in plasma OT levels between children with autism and healthy children, the associations of OT levels with particular autism symptoms and the associations of particular parental autistic traits with their ASD children OT levels.MethodsWe included 19 boys with autism and 44 healthy age-matched boys. OT levels were analyzed by ELISA method. Children with autism were scored by Childhood Autism Rating Scale and Autism Diagnostic Interview (ADI), adjusted research version. Autism Spectrum Quotient (AQ), Systemizing Quotient (SQ) and Empathizing Quotient were completed by parents of children with autism.ResultsChildren with autism had significantly lower plasma OT levels than controls. OT levels positively correlated with ADI Reciprocal Interaction and Communication scores. AQ and SQ of fathers positively correlated with children plasma OT level.ConclusionOur results support the hypothesis of OT deficiency in autism. The "paradoxical" associations of OT levels and social skills in children with autism indicate disturbances at various levels of OT system. We first reported associations of OT levels in children with autism and behavioral measures in fathers indicating that OT abnormalities stay between parental autistic traits and autism symptoms in their children.

Aggressive Behaviors and Verbal Communication Skills in Autism Spectrum Disorders.

Aggressive behavior is a common problem among children with autism spectrum disorder (ASD) and could negatively affect family functioning and school and social competence. The aim of the present study was to investigate the relationship between aggressive behavior, such as self-aggression and other-aggression, with verbal communication ability and IQ level in children with ASD. The sample examined in this study included 88 children with a diagnosis of ASD. For the purposes of our study, much attention was focused on individual items of the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview–Revised that were useful to evaluate the aggressive behavior. We have not found any association between aggressive behavior (other-aggression and self-aggression) and the absence of language or low IQ in children with ASD. Thus, the degree of severity of autism is probably the most important risk factor for this behavior.