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Pragmatic language difficulties, including unusual filler usage, are common among children with Autism Spectrum Disorder (ASD). This study investigated "um" and "uh" usage in children with ASD and typically developing (TD) controls. We analyzed transcribed Autism Diagnostic Observation Schedule (ADOS) sessions for 182 children (117 ASD, 65 TD), aged 4 to 15. Although the groups did not differ in "uh" usage, the ASD group used fewer "ums" than the TD group. This held true after controlling for age, sex, and IQ. Within ASD, social affect and pragmatic language scores did not predict filler usage; however, structural language scores predicted "um" usage. Lower "um" rates among children with ASD may reflect problems with planning or production rather than pragmatic language. [ABSTRACT FROM AUTHOR]

The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database. [ABSTRACT FROM AUTHOR]

Black children with autism are diagnosed at an older age. Whether or not late detection is paralleled by differing clinical presentation is not known. We evaluated symptom profiles of 245 Black and 488 sex- and age-matched White non-Hispanic participants (82.8% male; mean age: 4.2 years) referred for ASD diagnosis. Both groups showed similar overall levels of autistic symptoms. Black children had significantly but slightly lower scores on cognitive tests and on the Vineland communication domain than White children. Groups were comparable on internalizing and externalizing co-occurring problems. Given the largely similar clinical profiles, clinical differences in initial presentation may not be a primary reason for Black/White disparities in diagnostic and services use. Limitations of a cross-sectional referred sample are acknowledged. [ABSTRACT FROM AUTHOR]

Recent worldwide epidemiological surveys of autism conducted in 37 countries are reviewed; the median prevalence of autism is.97% in 26 high-income countries. Methodological advances and remaining challenges in designing and executing surveys are discussed, including the effects on prevalence of variable case definitions and nosography, of reliance on parental reports only, case ascertainment through mainstream school surveys, innovative approaches to screen school samples more efficiently, and consideration of age in interpreting surveys. Directions for the future of autism epidemiology are discussed, including the need to systematically examine cross-cultural variation in phenotypic expression and developing surveillance programs. [ABSTRACT FROM AUTHOR]

This study examined lifetime medical and psychiatric morbidity reported by caregivers of 2917 autistic adults participating in the US research cohort SPARK. Participants were 78.4% male, 47.3% had intellectual disability, and 32.1% had persistent language impairments. Childhood language disorders (59.7%), speech/articulation problems (32.8%), sleep (39.4%) and eating problems (29.4%), motor delays (22.8%) and history of seizure (15.5%) were the most frequently reported clinical features. Over two thirds (67.2%) had been diagnosed with at least one psychiatric disorder (anxiety disorders: 41.1%; ADHD: 38.7%). Compared to verbally fluent participants, those with language impairments had lower frequencies of almost all psychiatric disorders. Female sex and older age were associated with higher medical and psychiatric morbidity. [ABSTRACT FROM AUTHOR]

Inconsistent findings regarding sex differences in cognition have been found in people with autism spectrum disorder (ASD). This study evaluated sex differences in cognitive-developmental functioning in a large clinical sample of young children diagnosed with ASD. The sample included children 18–68 months of age who received the Mullen Scales of Early Learning (MSEL) through Autism Treatment Network (ATN) sites from 2007 to 2013 (N = 1587, 16.7% female). In this large clinically referred sample of young children with ASD in the United States, no significant differences were found between the sexes for the MSEL Early Learning Composite (ELC) standard score, domain T Scores or age equivalents. These findings persisted when examining different age ranges, cognitive levels and domain profiles. [ABSTRACT FROM AUTHOR]

There are no epidemiological data on autism for Mexico. This study was conducted to generate a first estimate of ASD prevalence in Mexico. We surveyed children age eight in Leon (Guanajuato). The sample was stratified in two strata: (1) children having special education and medical records (SEMR; N = 432) and (2) children attending regular schools (GSS; N = 11,684). GSS children were screened with the SRS and those with the highest scores were invited to a diagnostic evaluation. The final sample comprised 36 children (80.6 % male) who had confirmed ASD. A third had intellectual disability, 25 % were non-verbal, 69 % had co-occurring behavioral problems. The prevalence overall was 0.87 % (95 % CI 0.62, 1.1 %). This survey provides an estimate for ASD prevalence in Mexico that is consistent with recent studies. [ABSTRACT FROM AUTHOR]

We examined the stability of cognitive and adaptive behaviour standard scores in children with autism spectrum disorder (ASD) between diagnosis and school entry approximately age 6. IQ increased 18 points in 2-year-olds, 12 points in 3-year-olds, and 9 points in 4-year-olds (N = 281). Adaptive behaviour scores increased 4 points across age groups (N = 289). At school entry, 24 % of children met criteria for intellectual disability (cognitive and adaptive behaviour scores <70). No children with both scores ≥70 at diagnosis later met criteria for intellectual disability. Outcomes were more variable for children with initial delays in both areas (in 57 %, both scores remained <70). Findings are relevant to clinical decision-making, including specification of intellectual disability in young children with ASD. [ABSTRACT FROM AUTHOR]

The latent class structure of autism symptoms from the time of diagnosis to age 6 years was examined in a sample of 280 children with autism spectrum disorder. Factor mixture modeling was performed on 26 algorithm items from the Autism Diagnostic Interview - Revised at diagnosis (Time 1) and again at age 6 (Time 2). At Time 1, a '2-factor/3-class' model provided the best fit to the data. At Time 2, a '2-factor/2-class' model provided the best fit to the data. Longitudinal (repeated measures) analysis of variance showed that the '2-factor/3-class' model derived at the time of diagnosis allows for the identification of a subgroup of children (9 % of sample) who exhibit notable reduction in symptom severity. [ABSTRACT FROM AUTHOR]

Path analysis within a structural equation modeling framework was employed to examine the relationships between two types of parent stress and children's externalizing and internalizing behaviors over a 4-year period, in a sample of 184 mothers of young children with autism spectrum disorder. Parent stress was measured with the Parenting Stress Index-Short Form and child behavior was measured with Child Behavior Checklist/1.5-5. Across all time points, parent general distress predicted both types of child behaviors, but not vice versa. In addition, there was modest evidence of a bidirectional relationship between parenting distress and both types of child behaviors from 12 months post-diagnosis to age 6. Results are compared to previous work in this area, with implications for early intervention. [ABSTRACT FROM AUTHOR]

Autism Spectrum Disorders (ASDs) and childhood obesity (OBY) are rising public health concerns. This study aimed to evaluate the prevalence of overweight (OWT) and OBY in a sample of 376 Oregon children with ASD, and to assess correlates of OWT and OBY in this sample. We used descriptive statistics, bivariate, and focused multivariate analyses to determine whether socio-demographic characteristics, ASD symptoms, ASD cognitive and adaptive functioning, behavioral problems, and treatments for ASD were associated with OWT and OBY in ASD. Overall 18.1 % of children met criteria for OWT and 17.0 % met criteria for OBY. OBY was associated with sleep difficulties, melatonin use, and affective problems. Interventions that consider unique needs of children with ASD may hold promise for improving weight status among children with ASD. [ABSTRACT FROM AUTHOR]

The purpose of this study was to examine the measurement properties of the Social Responsiveness Scale in an accelerated longitudinal sample of 4-year-old preschool children with the complementary approaches of categorical confirmatory factor analysis and Rasch analysis. Measurement models based on the literature and other hypothesized measurement models which were tested using categorical confirmatory factor analysis did not fit well and were not unidimensional. Rasch analyses showed that a 30-item subset met criteria of unidimensionality and invariance across item, person, and over time; and this subset exhibited convergent validity with other child outcomes. This subset was shown to have enhanced psychometric properties and could be used in measuring social responsiveness among preschool age children with Autism Spectrum Disorders. [ABSTRACT FROM AUTHOR]

The prevalence of autism spectrum disorders has been steadily rising. In most parts of the world, rates as high as 1 % are reported, including in the United States. In Israel, previously reported prevalence rates have been in the 0.2 % range, and were based on parental reporting of diagnosis. In this study, records from one of the largest Israeli Health Maintenance organizations were used to calculate both incidence and prevalence of autism spectrum disorder (ASD) in Israel. Israeli prevalence of ASD was calculated at 0.48 % for 1-12 years olds and 0.65 % for 8 year old children in 2010, higher than previous Israeli reports, but still lower than prevalence estimates for the US. Incidence calculations ranged from 0.65 to 0.84 per 1,000 children for children 1-12 year olds. Reasons for these differences are suggested and discussed. [ABSTRACT FROM AUTHOR]

The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally 'Diagnosed Not Autistic' met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. [ABSTRACT FROM AUTHOR]

The impact of bilingual exposure on language learning has not been systematically studied in children with Autism Spectrum Disorders. This study compared the social abilities and language levels of children (mean age = 56 months) with ASDs from bilingual (n = 45) and monolingual (n = 30) environments. Bilingually-exposed children were subgrouped based on simultaneous bilingual exposure from infancy (SIM, n = 24) versus sequential post-infancy bilingual exposure (SEQ, n = 21). Despite significantly different amounts of bilingual exposure across all groups ( p = <0.001) and significantly stronger social interaction scores in the SIM group compared to the SEQ group on the Vineland Adaptive Behavior Scales-II Interpersonal subdomain ( p = 0.025), there were no significant group differences in language level. Bilingually-exposed children with ASDs did not experience additional delays in language development. [ABSTRACT FROM AUTHOR]

This study examined changes in the administrative prevalence of autism spectrum disorders (ASD) in Utah children from 2002 to 2008 by record source (school and health), age (four, six, and eight), and special education classification. Prevalence increased 100% with 1 in 77 children aged eight identified with ASD by 2008. Across study years and age groups rates were higher when health and school data were combined with a greater proportion of cases ascertained from health. The proportion of children with both a health ASD diagnosis and a special education autism classification did not significantly change. Most children with an ASD health diagnosis did not have an autism special education classification. Findings highlight the growing health and educational impact of ASD. [ABSTRACT FROM AUTHOR]

This pilot study presents preliminary results concerning the prevalence of Pervasive Developmental Disorder (PDD) in South America. It was a three-phase study conducted in a typical town in Southeast Brazil. Case definition was based in a combination of standardized instruments and clinical evaluations by experts. The prevalence of PDD was 27.2/10,000 (95% CI: 17.6-36.8) and some hypotheses were raised to explain this low frequency. Clinical findings of PDD cases were consistent with previous data, such as, male preponderance, more children diagnosed with PDD-NOS than with autistic disorder, and half of them born from older mothers. Moreover, the study raised concerns about treatment of cases, because identification of PDD had been late and access to services has been very limited. [ABSTRACT FROM AUTHOR]

This study examined the phenotypic overlap between core diagnostic features and emotional/behavioral problems in a sample of 335 preschool children with autism spectrum disorder (ASD). Results from principal component analysis (2 components; 49.70% variance explained) suggested substantial phenotypic overlap between core diagnostic features and emotional/behavioral problems. Component I, Emotional Behavioral Repetitive Problems, was independent of the children's intellectual, adaptive functioning, and structural language abilities. Component II, Social Communication Deficits, was negatively related to the children's intellectual, adaptive functioning, and structural language abilities. Both components were positively related to parental stress. This exploratory study contributes to our understanding of the ASD phenotype and provides further support for including emotional/behavioral problems as part of the clinical characterization of children with ASD. [ABSTRACT FROM AUTHOR]

Path analysis within a structural equation modeling framework was employed to examine the relationships between two types of parent stress and children's externalizing and internalizing behaviors over a 4-year period, in a sample of 184 mothers of young children with autism spectrum disorder. Parent stress was measured with the Parenting Stress Index-Short Form and child behavior was measured with Child Behavior Checklist/1.5-5. Across all time points, parent general distress predicted both types of child behaviors, but not vice versa. In addition, there was modest evidence of a bidirectional relationship between parenting distress and both types of child behaviors from 12 months post-diagnosis to age 6. Results are compared to previous work in this area, with implications for early intervention. [ABSTRACT FROM AUTHOR]

Individuals with Autism Spectrum Disorders (ASD) succeed at a range of musical tasks. The ability to recognize musical emotion as belonging to one of four categories (happy, sad, scared or peaceful) was assessed in high-functioning adolescents with ASD ( N = 26) and adolescents with typical development (TD, N = 26) with comparable performance IQ, auditory working memory, and musical training and experience. When verbal IQ was controlled for, there was no significant effect of diagnostic group. Adolescents with ASD rated the intensity of the emotions similarly to adolescents with TD and reported greater confidence in their responses when they had correctly (vs. incorrectly) recognized the emotions. These findings are reviewed within the context of the amygdala theory of autism. [ABSTRACT FROM AUTHOR]

The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself. [ABSTRACT FROM AUTHOR]

This study examined the factor structure of the Repetitive Behavior Scale-Revised (RBS-R) in a sample of 287 preschool-aged children with autism spectrum disorder (ASD). A confirmatory factor analysis was used to examine six competing structural models. Spearman's rank order correlations were calculated to examine the associations between factor scores and variables of interest. The 3- and 5-factor models were selected as preferable on the basis of fit statistics and parsimony. For both models, the strongest correlations were with problem behavior scores on the Child Behavior Checklist and repetitive behavior scores on the ADI-R. Developmental index standard scores were not correlated with factors in either model. The results confirm the utility of the RBS-R as a measure of repetitive behaviors in young children with ASD. [ABSTRACT FROM AUTHOR]

Sensori-motor development and performance of daily living skills (DLS) remain little explored in children with autism spectrum disorders (ASD). The objective of this study was to determine the impact of sensori-motor skills on the performance of DLS in preschool children with ASD. Thirty-five children, 3–4 years of age, were recruited and assessed with a battery of diagnostic and clinical tests. Children showed atypical sensory responses, very poor motor and DLS. Sensory avoiding, an excessive reaction to sensory stimuli, and fine motor skills were highly correlated with DLS, even when cognitive performance was taken into account. Sensori-motor deficits have an impact on the autonomy of children with ASD and interventions should aim at improving and supporting the development of sensori-motor skills. [ABSTRACT FROM AUTHOR]

The effectiveness of a social skills training group for adolescents with Asperger syndrome and high-functioning autism (AS/HFA) was evaluated. Parents of six groups of adolescents ( n = 46, 61% male, mean age 14.6) completed questionnaires immediately before and after the 12-week group. Parents and adolescents were surveyed regarding their experience with the group. Significant pre- to post-treatment gains were found on measures of both social competence and problem behaviors associated with AS/HFA. Effect sizes ranged from .34 to .72. Adolescents reported more perceived skill improvements than did parents. Parent-reported improvement suggests that social skills learned in group sessions generalize to settings outside the treatment group. Larger, controlled studies of social skills training groups would be valuable. [ABSTRACT FROM AUTHOR]

The aim of this study was to carry out a preliminary examination of a research instrument developed specifically to collect cost information for individuals with autistic spectrum disorder. There is very little cost information on children or adults with autism or autism-related disorder, and no study appears to have carried out a specific cost collection in this area. Although some global cost estimates can be made, little is known about the cost implications of parental burden. By using different techniques to collect indirect costs, the study outlines a functional methodology. Results from this small pilot study point to considerable economic burden for parents and give some indication of the associated costs of autistic spectrum disorder. [ABSTRACT FROM AUTHOR]

This paper was commissioned by the committee on the Effectiveness of Early Education in Autism of the National Research Council (NRC). It provides a review of epidemiological studies of pervasive developmental disorders (PDD) which updates a previously published article (The epidemiology of autism: a review. Psychological Medicine 1999; 29: 769–786). The design, sample characteristics of 32 surveys published between 1966 and 2001 are described. Recent surveys suggest that the rate for all forms of PDDs are around 30/10,000 but more recent surveys suggest that the estimate might be as high as 60/10,000. The rate for Asperger disorder is not well established, and a conservative figure is 2.5/10,000. Childhood disintegrative disorder is extremely rare with a pooled estimate across studies of 0.2/10,000. A detailed discussion of the possible interpretations of trends over time in prevalence rates is provided. There is evidence that changes in case definition and improved awareness explain much of the upward trend of rates in recent decades. However, available epidemiological surveys do not provide an adequate test of the hypothesis of a changing incidence of PDDs. [ABSTRACT FROM AUTHOR]

Editorial. Focuses on separate domains of research related to Autism and developmental disorder. Reports of the analysis of Stanford Binet: IV and academic achievement test scores; Outcome of narrative ability test of children with high-functioning autism or Asperger disorder; Memory performance of adults with Asperger disorder.

Introduces articles published in volume 32, number 3, June 2002 issue of the "Journal of Autism and Developmental Disorders". Efficacy of secretin in autism; Perception of youthfulness in human and nonhuman faces by children with autism and from several comparison groups; Analysis of the psychometric properties of the Autism Behavioral Checklist.

Editorial. Introduces articles in the volume 31 of the "Journal of Autism and Developmental Disorders". Hauck and Dewey's investigation of the laterality and strength and consistency of hand preference in a sample of young children with autism compared to developmentally delayed children and normally developing children; Eaton and colleagues' re-assessment of the association between obstetric complications and autism and other severe childhood disorders; Mostert's detailed account of studies published since 1995 on the efficacy of facilitated communication.

Discusses the prevalence of Asperger disorder. Characteristics of the Asperger syndrome; Background on epidemiological research on Asperger syndrome; Surveys conducted in Sweden which investigated the prevalence of Asperger syndrome in children attending normal schools; Prevalence rates for Asperger syndrome.

Introduces articles published in the August 200 issue of the ''Journal of Autism and Developmental Disorders.'' Quantification of social deficits with standardized measures; Investigation of psychiatry morbidity in samples of high-functioning adolescents; Review of the episodic memory system.

Discusses the link between measles infection or measles immunization with autism. Issue focused on when parents first notice signs of the pervasive developmental disorder in their children; Arguments necessary to suggest a causal link between the infection or immunization and autism; Review made by a panel of experts of all disciplines convened by the Medical Research Council which concluded that the available virological and epidemiological evidence did not indicate any link between measles, mumps and rubella vaccination and bowel disease or autism.

This article provides information about studies of mortality in autism. In one of the largest studies studied over 13,000 subjects with an autism diagnosis who were receiving services from the California Department of Development Services; 202 deaths occurred during the 1983-1997 observation period. The overall standardized mortality ratio (SMR) was 2.4, indicating a mortality rate twice as high as that for the general population. Mortality was strongly associated with mental retardation with an SMR over 3 for subjects with moderate to profound mental retardation, whereas the SMR was 1.4 for subjects with no or only mild mental retardation. The findings, therefore, suggest that mortality rates are increased in autism and that the severely impaired subjects have the larger reduction in life expectancy.

Explains whether exposure to alcohol during pregnancy is a risk factor for autism. Association of the exposure of the fetus to alcohol with a range of birth defects; Fetal alcohol syndrome (FAS); Alcohol-related birth defects; Features and other characteristics of FAS that are typically found in children with autism.

Comments on the enlarged head circumference of children with autism. Investigation of the findings of studies; Proportion of the subjects with autism and macrocephaly; Association of the symptom with mental retardation.

Introduces several articles and brief reports illustrating the diversity of the research conducted with subjects with pervasive developmental disorders and published in a 1999 issue of "Journal of Autism and Developmental Disorders". Confirmation of prior findings of the presence of chromosomal abnormalities in a minority of autistic children; Social deficits in adults with autism; Factor structure of the Childhood Autism Rating Scale; Epidemiological investigation of a Swedish population of school age children where the prevalence of autistic spectrum disorder was estimated; Association between gaze behavior and theory of mind ability in experimental conditions.

Purpose: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent.We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed.47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups.Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not.Methods: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent.We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed.47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups.Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not.Results: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent.We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed.47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups.Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not.Conclusion: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent.We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed.47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups.Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not. [ABSTRACT FROM AUTHOR]

Purpose: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor for ASD in a limited number of studies, with mixed results. We employed registry and survey data from Qatar to evaluate the role of consanguinity as a risk factor for ASD. Methods: Data were sourced from a national registry and a population-based survey of autism recently conducted in Qatar. We selected a sample of 891 children (mean age: 8.3 years) with (N = 361) or without (N = 530) ASD. Data on consanguinity and covariates were collected through questionnaires and interviews. Results: The prevalence of consanguinity in the overall sample was 41.2% with no significant difference between cases and controls (42.1% vs 41.3%; p = .836). In adjusted multiple logistic regression analyses, consanguinity was not associated with risk of ASD (aOR = 1.065; 95% CI: .751-1.509; NS). Conclusion: Parental consanguinity was not associated with autism risk in our study. Replication in other populations with high rates of consanguineous unions is recommended. [ABSTRACT FROM AUTHOR]