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PubMed2006

Multiple cognitive capabilities/deficits in children with an autism spectrum disorder: "weak" central coherence and its relationship to theory of mind and executive control.

This study examined the validity of "weak" central coherence (CC) in the context of multiple cognitive capabilities/deficits in autism. Children with an autism spectrum disorder (ASD) and matched typically developing children were administered tasks tapping visuospatial coherence, false-belief understanding and aspects of executive control. Significant group differences were found in all three cognitive domains. Evidence of local processing on coherence tasks was widespread in the ASD group, but difficulties in attributing false beliefs and in components of executive functioning were present in fewer of the children with ASD. This cognitive profile was generally similar for younger and older children with ASD. Furthermore, weak CC was unrelated to false-belief understanding, but aspects of coherence (related to integration) were associated with aspects of executive control. Few associations were found between cognitive variables and indices of autistic symptomatology. Implications for CC theory are discussed.

Autistic Disorder↗

PubMed2006

Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal.

The present study extends our previous work on characterizing the profile of social behavior abnormalities in boys with Fragile X (FraX) and autism spectrum disorder (ASD) using clinically oriented behavioral rating scales and standardized instruments. The goal was to further distinguish behavioral parameters contributing to the diagnostic classification of FraX + ASD. The study design included two cohorts of boys with FraX (3-8 years), a larger main cohort for cross-sectional analyses (n = 56, 24 with ASD), and a longitudinal subset (n = 30, 11 with ASD) of the main cohort with up to 3 yearly observations. The focus was on the relative contribution of delayed adaptive socialization and social withdrawal, including item components of their corresponding rating instruments, to the diagnosis of ASD in boys with FraX. Using a combination of regression analyses, we demonstrated that: (1) as delayed socialization, social withdrawal is also a correlate of FraX + ASD; (2) items of social withdrawal scales representing avoidance were the main predictors of ASD status, particularly in older boys; (3) adaptive socialization skills reflecting rules of social behavior and recognition and labeling of emotions, linked to verbal reasoning abilities, were selectively associated with FraX + ASD; (4) adaptive socialization is the primary determinant over time of ASD status in boys with FraX; and (5) integrated adaptive socialization-social withdrawal models allow the identification of distinctive FraX + ASD subgroups. Altogether, our findings suggest that two distinct but interrelated social behavior abnormalities, one linked to impaired cognitive processes (delayed socialization) and the second one to disturbance in limbic circuits (avoidance), play a role in the development of ASD in boys with FraX.

Adaptation, Psychological↗

PubMed2007

The Repetitive Behavior Scale-Revised: independent validation in individuals with autism spectrum disorders.

A key feature of autism is restricted repetitive behavior (RRB). Despite the significance of RRBs, little is known about their phenomenology, assessment, and treatment. The Repetitive Behavior Scale-Revised (RBS-R) is a recently-developed questionnaire that captures the breadth of RRB in autism. To validate the RBS-R in an independent sample, we conducted a survey within the South Carolina Autism Society. A total of 320 caregivers (32%) responded. Factor analysis produced a five-factor solution that was clinically meaningful and statistically sound. The factors were labeled "Ritualistic/Sameness Behavior," "Stereotypic Behavior," "Self-injurious Behavior," "Compulsive Behavior," and "Restricted Interests." Measures of internal consistency were high for this solution, and interrater reliability data suggested that the RBS-R performs well in outpatient settings.

Adolescent↗

PubMed2003

The neuropathology of the autism spectrum disorders: what have we learned?

Autism is a behaviourally defined disorder, initially described by Kanner in 1943. By definition, symptoms are manifested by 36 months of age and are characterized by delayed and disordered language, impaired social interaction, abnormal responses to sensory stimuli, events and objects, poor eye contact, an insistence on sameness, an unusual capacity for rote memory, repetitive and stereotypic behaviour and a normal physical appearance. Relatively few neuropathological studies have been performed on the brains of autistic subjects. Of those reported, abnormalities have been described in the cerebral cortex, the brainstem, the limbic system and the cerebellum. Although those with the disorder present with a specific set of core characteristics, each individual patient is somewhat different from another. Thus, it should not be surprising that the brains of these subjects should show a wide range of abnormalities. However, it is important to delineate the anatomic features, which are common to all cases, regardless of age, sex and IQ, in order to begin to understand the central neurobiological profile of this disorder. The results of our systematic studies indicate that the anatomic features that are consistently abnormal in all cases include reduced numbers of Purkinje cells in the cerebellum, and small tightly packed neurons in the entorhinal cortex and in the medially placed nuclei of the amygdala. It is known that the limbic system is important for learning and memory, and that the amygdala plays a role in emotion and behaviour. Research in the cerebellum indicates that this structure is important as a modulator of a variety of brain functions and impacts on language processing, anticipatory and motor planning, mental imagery and timed sequencing. Defining the differences and similarities in brain anatomy in autism and correlating these observations with detailed clinical descriptions of the patient may allow us greater insight into the underlying neurobiology of this disorder.

Adult↗

PubMed2006

Satisfaction with formal support and education for children with autism spectrum disorder: the voices of the parents.

INTRODUCTION: The aim of the present study was to identify and describe factors associated with variations in the level of parental satisfaction with formal support and education for children with autism spectrum disorder (ASD) in Flanders. METHODS: Participants were recruited by a mailing from a diagnostic centre for pre-schoolers and by advertisements dispersed in the Flemish parent organization for ASD and in services and special schools. The sample consisted of 244 parents of children with ASD (age range: 2.69-17.81 years, male/female sex ratio 4:1). The data were collected using a questionnaire on experiences with education and support, which was compiled for the purpose of this study. The data resulting from the questionnaire were supplemented with information obtained from semi-structured in-depth interviews with a stratified sample of 15 parents. RESULTS AND CONCLUSIONS: The study revealed that parents experienced difficulties with the diagnostic process, with support and education provided by mainstream settings and with the accessibility of autism-specific service provisions. Conversely, parents reported to be satisfied with the quality of autism-specific support and education. Predictors of overall satisfaction were parental involvement in formal support, knowledge of available service provisions and time between first consultation and final diagnosis. Practical implications of the results are discussed.

Adolescent↗

PubMed2026

De novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes.

Three-dimensional genome organization plays a critical role in gene regulation, and disruptions can lead to developmental disorders by altering the contact between genes and their distal regulatory elements. Structural variants (SVs) can disturb local genome organization, such as the merging of topologically associating domains upon boundary deletion. Testing large numbers of SVs experimentally for their effects on chromatin structure and gene expression is time and cost prohibitive. To address this, we propose a computational approach to predict SV impacts on genome folding, which can help prioritize causal hypotheses for functional testing. We develop a weighted scoring method that measures chromatin contact changes specifically affecting regions of interest, such as regulatory elements or promoters, and implement it in the SuPreMo-Akita software. With this tool, we rank hundreds of de novo SVs (dnSVs) from autism spectrum disorder (ASD) individuals and their unaffected siblings based on predicted disruptions to nearby neuronal regulatory interactions. This reveals that putative cis-regulatory element interactions (CREints) are more disrupted by dnSVs from ASD probands versus unaffected siblings. We prioritize candidate variants that disrupt ASD CREints and validate our top-ranked locus using isogenic excitatory neurons with and without the dnSV, confirming accurate predictions of disrupted chromatin contacts. This study suggests that disrupted genome folding is a potential genetic mechanism in a subset of ASD cases and provides a general strategy for prioritizing variants predicted to disrupt regulatory interactions across tissues.

Humans↗

PubMed2004

Public health monitoring of developmental disabilities with a focus on the autism spectrum disorders.

Developmental disabilities (DDs) are conditions characterized by physical, cognitive, psychological, sensory, adaptive, and/or communication impairments manifested during development. Approximately 17% of individuals in the United States 18 years and younger have a DD, and for most children the cause of their condition is unknown. Of particular interest are the autism spectrum disorders (ASDs), characterized by unusual social, communication, and behavioral development. Previously autism was thought to be a rare condition, but the number of children receiving services for an ASD has increased dramatically in the last decade. Concerns about increases in DDs, particularly ASDs, their causes, and the high costs of intervention have highlighted the need for systematic public health monitoring. Service provider data, such as annual reporting of special education services or of state DD programs, do not provide a complete estimate of the rates for DDs, including ASDs. Unlike genetic metabolic disorders or congenital hearing loss (HL) for which newborn screening programs can provide accurate prevalence rates, there are currently no genetic or biologic markers for the ASDs to enable consistent and early identification of affected children. Centers for Disease Control and Prevention's (CDC) Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP) is a model for population monitoring of ASDs/DDs that has been implemented in other states. This article discusses the role of ASD/DD tracking in public health, as well as the challenges of ASD/DD tracking, including case definition and identification, associated conditions, linkages, and data access.

Autistic Disorder↗

PubMed2003

Autism spectrum disorders: early detection, intervention, education, and psychopharmacological management.

Our understanding and treatment of children with autism have changed dramatically since Leo Kanner first formally documented the disorder in 1943. With reference to the historical context, this paper reviews recent research addressing 4 major issues: early detection, intervention, education, and psychopharmacological management of children with autism and related (autistic) spectrum disorders (hereafter, "autism"). We conclude from our review of the evidence that, in the absence of additional, more compelling data, the clinical usefulness of existing screening instruments remains questionable. However, the potential importance of such research is underscored by the clear benefits of early behavioural intervention: despite differences in orientation, outcomes for children with autism can be significantly enhanced with early intensive intervention. Although many questions remain (notably, What are the critical therapeutic components? For whom? For what domains of development? For what level of intensity and duration?), interventions shown to be effective are all carefully planned, engineered, monitored, and designed to target specific skill domains. Including children with autism in regular classes within the public school system poses several challenges, the most pressing of which is the large number of school personnel who need to be trained in evidence-based teaching and behavioural management practices. Finally, psychotropic drugs may help to reduce some symptoms, but they are neither curative nor a substitute for other forms of support and intervention.

Adolescent↗

PubMed2007

Individual and marital adaptation in men with autism spectrum disorder and their spouses: the role of social support and coping strategies.

The aim of the present study was to examine the predictive value of social support and coping for individual and marital adaptation in adult men with autism spectrum disorder (ASD) and their spouses, based on the double ABCX model of adaptation. Twenty-one couples participated in the study and completed measures of stressor severity, social support, coping, individual and marital adaptation. Bivariate analyses showed that each of the model components was related to adaptation in men and women. Hierarchical regression analyses revealed that, after controlling for relevant demographics and stressor severity, informal support was a strong, and unique predictor of adaptation in both spouses (explained variance: 27-89%). Coping did not add to the prediction of adaptation. Clinical implications and limitations are discussed.

Adaptation, Psychological↗

PubMed2005

Maternal autoimmune diseases, asthma and allergies, and childhood autism spectrum disorders: a case-control study.

OBJECTIVE: To investigate the association between physician-documented diagnoses of maternal autoimmune diseases, allergies, and asthma around the time of pregnancy and subsequent diagnoses of autism in children. DESIGN: A case-control study nested within a cohort of infants born between January 1995 and June 1999. SETTING: Northern California Kaiser Permanente Medical Care Program. PARTICIPANTS: Cases (n = 420) were children with at least 1 diagnosis of an autism spectrum disorder (ASD) recorded in Kaiser Permanente outpatient clinical databases. Controls (n = 2100) were children without an ASD diagnosis who were frequency matched to cases on sex, birth year, and hospital of birth. MAIN OUTCOME MEASURES: Frequencies of maternal immunologic disorders were compared between cases and controls with a chi2 statistic, and relative risks were estimated by crude and adjusted odds ratios and 95% confidence intervals using logistic regression. RESULTS: The final study population included 407 cases and 2095 controls. A similar proportion of case and control mothers had a diagnosis of any autoimmune disease in the 4-year period surrounding pregnancy (10.3% vs 8.2%, P = .15). After adjustment for maternal factors, only 1 autoimmune condition, psoriasis, was significantly associated with ASDs (adjusted odds ratio, 2.7; 95% confidence interval, 1.3-5.8). A greater than 2-fold elevated risk of ASD was observed for maternal asthma and allergy diagnoses recorded during the second trimester of pregnancy. CONCLUSIONS: These findings suggest that maternal autoimmune disorders present in women around the time of pregnancy are unlikely to contribute significantly to autism risk. Further etiologic investigations are needed to confirm these results and should include objective documentation of diagnoses and consider a larger set of maternal immune-related conditions, including asthma and allergies.

Asthma↗

PubMed2006

Patterns of complementary and alternative medical therapy use in children diagnosed with autism spectrum disorders.

Previous studies suggest that complementary and alternative medical (CAM) therapy use in children with chronic illnesses is higher than in children in the general population. In this study, we investigated patterns of CAM therapy use in children diagnosed with autism spectrum disorders (ASD, n = 50) as compared to a control population of children with no ASD (n = 50). Over half of the parents in the ASD group reported using, or had used at least one CAM therapy for their child (52%) as compared to 28% of the control group (P = 0.024). Seventy percent of therapies used in the ASD group were biologically based therapies comprised of special diets or supplements, and parents felt that 75% of the therapies used were beneficial.

Adolescent↗

PubMed2006

Quality of life in high-functioning adults with autism spectrum disorder: The predictive value of disability and support characteristics.

Although the concept of quality of life has increasingly been used in the field of intellectual disabilities over the past three decades, the factors contributing to quality of life of persons with autism spectrum disorder (ASD) have received relatively little attention. In this study, disability and support characteristics associated with variations in the level of quality of life among adults with ASD are identified, using self-report measures. Fifty-eight high-functioning adults with ASD participated in the study. The results of a multiple linear regression analysis reveal that support characteristics are related to quality of life in adults with ASD, whereas disability characteristics are not. The R2 effect size (0.620) is large and significant. The results reinforce the significance of an available supportive social network, the importance of a substantial needs assessment and effective professional support.

Adolescent↗

PubMed2004

Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.

Mouse mutants of the homeobox transcription factor Engrailed2 (En2) and autistic individuals display similar cerebellar morphological abnormalities, which include hypoplasia and a decrease in the number of Purkinje cells. Human EN2 maps to 7q36, a chromosomal region that has demonstrated suggestive linkage to autism spectrum disorder (ASD). To investigate EN2 for evidence of association with ASD, four single-nucleotide polymorphisms (SNPs) (rs3735653, rs1861972, rs1861973, rs2361689) that span the majority of the 8.0 kb gene were assessed by the transmission/disequilibrium test. Initially, 138 triads of autistic individuals and their parents were tested. Two intronic SNPs (rs1861972 and rs1861973) demonstrated significant association with autism (rs1861972, P=0.0018; rs1861973, P=0.0003; haplotype, P=0.000005). Flanking exonic SNPs (rs3735653 and rs2361689) did not display association. This analysis was then extended to include 167 small nuclear ASD pedigrees and significant association was again only observed for rs1861972 and rs1861973 under both the narrow and broad diagnostic criteria (narrow: rs1861972 P=0.0290, rs1861973 P=0.0073, haplotype P=0.0009; broad: rs1861972 P=0.0175, rs1861973 P=0.0107, haplotype P=0.0024). These data demonstrate association between a cerebellar patterning gene and ASD, suggesting a role for EN2 as a susceptibility locus and supporting a neurodevelopmental defect hypothesis in the etiology of autism.

Animals↗

PubMed2003

Autism spectrum disorders in children with active epilepsy and learning disability: comorbidity, pre- and perinatal background, and seizure characteristics.

The aim of this study was to examine the comorbidity pattern, seizure characteristics, and aetiology in a representative group of children with a combination of autism spectrum disorder (ASD), active epilepsy, and learning disability. Ninety children (47 males, 43 females; mean age 11 years 2 months, range 8 to 16 years at the time of psychiatric examination) with active epilepsy and learning disability, identified in a population-based study in Göteborg, Sweden, were subdivided into those with and those without ASD and compared with respect to aetiology, additional neuroimpairments, and seizure characteristics. In addition, the cohorts were examined for trends of prevalence over a period of time. Results indicated that established aetiology was much more often present in the prenatal period than in the peri- or postnatal periods in the ASD group. Cerebral palsy and visual impairment were under-represented in the ASD group. Partial seizures tended to be more common and generalized seizures less common in the ASD group compared with the non-ASD group. Seizure onset was later in the ASD group. Many of the significant differences were accounted for by a large group of psychiatrically unclassifiable participants in the non-ASD group. There was no trend towards an increase of affected children over the 12-year period. There was no increase in the prevalence of active epilepsy and learning disability nor in the rate of autism with active epilepsy and learning disability in children born between 1981 and 1986 compared with those born from 1976 to 1980, indicating no statistical association with the general measles-mumps-rubella vaccination introduced in the early 1980s.

Adolescent↗

PubMed2006

Comorbid psychopathology with autism spectrum disorder in children: an overview.

Comorbidity, the co-occurrence of two or more disorders in the same person, has been a topic receiving considerable attention in the child psychopathology literature overall. Despite many publications in the ADHD, depression and other child literatures, autism spectrum disorder has not received such scrutiny. The purpose of this review will be to discuss the available evidence. We address specific variables in diagnosis and classification of comorbid symptoms, and propose potential avenues for research and practice with respect to differential diagnosis. A brief discussion of the implications for treatment is also provided.

Anxiety Disorders↗

PubMed2004

Early Diagnosis of Autism Spectrum Disorders.

Autistic spectrum disorders (ASD) are an often-disabling continuum of disorders affecting two to four in 1000 children. These disorders have a core set of defining features including impaired verbal and nonverbal communication, impaired social interaction, and restricted or repetitive patterns of behavior. The cause of autism is unclear. The disorder can be defined only by related behaviors. Although there has been considerable improvement in standardized screening techniques for ASD in the past 10 years, screening and diagnostic practices in medicine and education lag far behind clinical research. Various studies have found the average age of diagnosis to be between 3 and 6 years, with significant differences as a function of ethnicity and socio-economic status. Preliminary research suggests that in some populations, missed diagnosis and misdiagnosis of ASD are common. This may be caused partly by inadequate screening practices. It also may reflect that presentation of symptoms varies from patient to patient. Lack of resources for appropriate referral, diagnosis, and treatment may play an important role. This article discusses recent progress in ASD screening, what is known of current screening and diagnostic practices, and future directions for research and practice improvement. The best practice model for the screening and early diagnosis of autism spectrum disorders and other developmental disabilities should include routine developmental surveillance as part of well-child pediatric care. General developmental screening should be followed by autism-specific screening for those children who fail the initial developmental screen, or whose parents report suspect behaviors.

Journal Article↗

PubMed2004

Factor analysis of the Nisonger Child Behavior Rating Form in children with autism spectrum disorders.

The Nisonger Child Behavior Rating Form (NCBRF) is a behavior rating scale designed for children and adolescents with mental retardation. The purpose of this study was to explore the psychometric properties of the NCBRF in a sample of 330 children and adolescents with autism spectrum disorders (ASDs). Parent and teacher ratings were independently submitted to both exploratory and confirmatory factor analysis. As reported with the original validation study, parent and teacher versions shared similar but somewhat different factor structures. Social competence items showed more similarity with the original solutions than did problem behavior items. Problem behavior items were distributed into a somewhat simpler five-factor solution for both rating forms. Self-injurious and stereotypic items loaded on two distinct subscales for the teacher form, but not on the parent form. Factor loadings and internal consistencies were generally lower than those reported for the original versions but still within the acceptable range. Confirmatory factor analyses indicated good fits for the social competence items and acceptable fits for the problem behavior items. Overall, results supported the construct validity of the NCBRF in children and adolescents with ASDs.

Adolescent↗

PubMed2006

Predicting lexical density growth rate in young children with autism spectrum disorders.

PURPOSE: The purpose of this longitudinal correlational study was to test whether an environmental variable and 4 child variables predicted growth rate of number of different nonimitative words used (i.e., lexical density). METHOD: Thirty-five young (age range = 21-54 months) children with autism spectrum disorders (ASD) who were initially nonverbal or low verbal participated in the study. Lexical density was measured at 3 times: at entry into the study as well as 6 months and 12 months after entry into the study. Growth curve analysis was used to test the associations. The predictive value of the putative predictors in the model was tested after controlling for initial expressive language impairment. RESULTS: Initial frequency of intentional communication and diversity of object play were predictors of lexical density growth above and beyond initial expressive language impairment (both pseudo R(2)s = .14). CONCLUSIONS: Intentional communication and diversity of object play may represent important prelinguistic goals for young children with ASD. These skills not only have been shown to be malleable through treatment, but they also provide a context for linguistic input from others that may facilitate language development.

Autistic Disorder↗