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PubMed2006

Restricted and repetitive behaviors in young children with autism spectrum disorders.

Restricted and repetitive behaviors (RRBs) on the Autism Diagnostic Interview- Revised (ADI-R: Lord, Rutter, & Le Couteur (1994) were examined in 165 children with Autism Spectrum Disorders (ASD), 49 children with non-spectrum developmental disorders (DD), and 65 children with typical development (TD) at approximately 2 years of age. A factor analysis found evidence for a repetitive sensorimotor (RSM) factor and an insistence on sameness (IS) factor. Behaviors that loaded on the RSM factor were prevalent in children with ASD and significantly more common and severe than in children with DD or TD. On average, children with ASD had more RSM behaviors. Behaviors that loaded on the IS factor were relatively uncommon and did not differ in prevalence or severity across groups.

Autistic Disorder↗

PubMed2006

Gray matter abnormalities in autism spectrum disorder revealed by T2 relaxation.

OBJECTIVE: To perform quantitative T2 relaxation measurements to evaluate cerebral water content in children with autism. METHODS: Sixty 2- to 4-year-old children with autism spectrum disorder (ASD), 16 age-matched children with idiopathic developmental delay (DD), and 10 children with typical development (TD) were scanned on a 1.5 T GE MRI scanner to obtain dual-echo fast spin echo images (2.5 mm thick, 0-mm gap). Images were segmented into gray and white matter and used to mask regions of interest for calculating T2 for each tissue type. Analysis of variance, covarying for age and sex, was used to compare T2 between groups, and correlations were used to compare T2 to IQ measures. RESULTS: Children with ASD had prolonged cortical gray matter T2, but white matter T2 was not significantly different, compared with the children with TD. T2 was prolonged in cortical gray matter and white matter in children with DD compared with children with ASD or TD. Significant interactions between T2 measures and IQ were not observed. CONCLUSIONS: Prolonged gray and white matter T2 in the children with developmental delay likely represents a delay in neuronal development and maturation. Prolonged T2 in gray matter, but not white matter, observed in children with autism spectrum disorder may signify abnormal developmental processes specific to autism.

Autistic Disorder↗

PubMed2023

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Little is known about the role of noncoding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of noncoding regions: Human Accelerated Regions (HARs), which show signatures of positive selection in humans; experimentally validated neural Vista Enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole genome analysis of >16,600 samples and >4900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly, if at all, in simplex family structures. We identified multiple patient variants in HARs near IL1RAPL1 and in a VE near SIM1 and showed that they change enhancer activity. Our results implicate both human-evolved and evolutionarily conserved noncoding regions in ASD risk and suggest potential mechanisms of how changes in regulatory regions can modulate social behavior.

Human Accelerated Regions↗

PubMed2007

Infection in the first 2 years of life and autism spectrum disorders.

OBJECTIVE: The purpose of this work was to investigate the association between infections in the first 2 years and subsequent diagnosis of autism spectrum disorders. METHODS: We conducted a case-control study among children born at Kaiser Permanente Northern California from 1995 to 1999. Case subjects (n = 403) were children with an autism diagnosis recorded in Kaiser Permanente databases. Control subjects (n = 2100) were randomly sampled from the remaining children without autism and frequency matched to case subjects on gender, birth year, and birth hospital. Information on infections and covariates were obtained from Kaiser Permanente and birth certificate databases. RESULTS: Overall, infection diagnoses in the first 2 years of life were recorded slightly less often for children with autism than control children (95.0% vs 97.5%). Among specific diagnoses, upper respiratory infections were significantly less frequently diagnosed and genitourinary infections more frequently diagnosed in children with autism. In the first 30 days of life, the frequency of having an infection was slightly higher among children with autism (22.6% vs 18.7%). CONCLUSIONS: Children with subsequent diagnoses of autism do not have more overall infections in the first 2 years of life than children without autism. Data suggest that children with autism may have modestly elevated rates of infection in the first 30 days and that, during the first 2 years, children with autism may be at higher risk for certain types of infections and lower risk for others. Additional studies that explore the associations between prenatal and early childhood infections and autism may help clarify the role of infection and the immune system in the etiology of autism spectrum disorder.

Autistic Disorder↗

PubMed2004

Measuring developmental progress of children with autism spectrum disorder on school entry using parent report.

Increasing numbers of children with autism spectrum disorder (ASD) are diagnosed in the preschool years, and their educational progress must be monitored. Parent questionnaire data can augment psychometric assessments and individual planning at low cost. One hundred and twenty-five parents of UK children who entered dedicated autism primary schools and units in two consecutive calendar years were asked to complete three questionnaires. Fifty-seven parents repeated the questionnaire measures one year later. Encouraging developmental progress was observed on the Vineland Adaptive Behavior Scales-Screener. Symptom severity as measured by the Social Communication Questionnaire did not change over time. The pattern of change scores on the Autism Treatment Evaluation Checklist was mixed, and confounding disadvantages this questionnaire. The study demonstrated that it is possible to collect useful information on the progress of children with ASD using parents as informants. Such data would assist in judging claims regarding developmental progress within particular programmes.

Autistic Disorder↗

PubMed2006

Psychological approaches to chronic catatonia-like deterioration in autism spectrum disorders.

The psychological dysfunctions that may underlie catatonia-like deterioration in autism spectrum disorders are discussed. Clinical observation suggests that an important factor is ongoing stress. The evidence for this from research and clinical observation is considered. The lack of evidence concerning the most appropriate medical treatments is discussed. A psychological approach designed for individual needs by relevant professionals and applied by parents and/or caregivers is described. This can be helpful whether or not medical treatments are used. It involves detailed holistic assessment of the individual and their circumstances to highlight possible precipitating stress factors in view of their underlying autism and cognitive/psychological functioning. The overall aim of this approach is to restructure the individual's lifestyle, environment and resolve cognitive/psychological factors to reduce the stress. An eclectic approach is used to find individual strategies in order to provide external goals and stimulation to increase motivation and keep the person engaged and active in meaningful and enjoyable pursuits. The approach describes ways of using verbal and physical prompts as external stimuli to overcome the movement difficulties and emphasizes maintaining a predictable structure and routine for each day. The importance of educating caregivers and service providers to understand the catatonia-like behavior is emphasized. Advice is given on management of specific problems such as incontinence, freezing in postures, eating problems, and episodes of excitement.

Adolescent↗

PubMed2002

The transmission disequilibrium test suggests that HLA-DR4 and DR13 are linked to autism spectrum disorder.

We have evaluated possible contributions of HLA-DRB1 alleles to autism spectrum disorder (ASD) in 103 families of Caucasian descent. The DR4 allele occurred more often in probands than controls (0.007), whereas the DR13,14 alleles occurred less often in probands than controls (p = 0.003). The transmission disequilibrium test (TDT) indicated that the ASD probands inherited the DR4 allele more frequently than expected (p = 0.026) from the fathers. The TDT also revealed that fewer DR13 alleles than expected were inherited from the mother by ASD probands (p = 0.006). We conclude that the TDT results suggest that DR4 and DR13 are linked to ASD. Reasons for the parental inheritance of specific alleles are poorly understood but coincide with current genetic research noting possible parent-of-origin effects in autism.

Alleles↗

PubMed2007

Brief report: a scale for rating conversational impairment in autism spectrum disorder.

There are few well-standardized measures of conversational breakdown in Autism Spectrum Disorders (ASD). The study's objective was to develop a scale for measuring pragmatic impairments in conversations of individuals with ASD. We analyzed 46 semi-structured conversations of children and adolescents with high-functioning ASD using a functional linguistic paradigm. Five constructs were developed that assessed difficulties related to the pragmatics of conversation: atypical intonation; semantic drift; terseness; pedantic speech; perseveration. The scale shows good inter-rater reliability and variation in the scales is not simply a reflection of IQ or language competence. This tool represents a way of characterizing language use in ASD and is an initial step towards developing a tool to evaluate change in degree of social impairments in conversation.

Adolescent↗

PubMed2006

Early social and emotional communication in the infant siblings of children with autism spectrum disorders: an examination of the broad phenotype.

Infants with older siblings with Autism Spectrum Disorders (ASD-sibs) are at risk for socioemotional difficulties. ASD-sibs were compared to infants with typically developing older siblings (TD-sibs) using the face-to-face/still-face (FFSF) at 6 months and the Early Social Communication Scale (ESCS) at 8, 10, 12, 15, and/or 18 months. ASD-sibs smiled for a lower proportion of the FFSF than TD-sibs and lacked emotional continuity between episodes. With respect to TD-sibs, ASD-sibs engaged in lower rates of initiating joint attention at 15 months, lower rates of higher-level behavioral requests at 12 months, and responded to fewer joint attention bids at 18 months. The results suggest subtle, inconsistent, but multi-faceted deficits in emotional expression and referential communication in infants at-risk for ASDs.

Adolescent↗

PubMed2006

A systematic examination of catatonia-like clinical pictures in autism spectrum disorders.

Three studies concerning catatonia-like clinical pictures in people with autism spectrum disorders (ASDs) referred to clinics are described. The first investigated the frequencies, in children and adults with autistic disorders, of 28 specific disorders of movement, speech, and behavior similar to those occurring in chronic catatonia spectrum conditions. The second compared the frequency of these items among groups of children with, ASDs, learning disabilities, specific language impairment, and a group with typical development, respectively. The third study examined the pattern of catatonia-like deterioration occurring in a minority of adolescents and adults with ASDs. The studies demonstrated the high frequency of catatonia-like features in people with autistic disorders. There was some tendency for improvement with increasing age, especially for those with IQ 70 or over. The items were also found in children with learning disabilities and specific language disorders but significantly less often. They occurred least often in the children with typical development. Severe catatonia-like deterioration occurred in 17% of those with autistic disorders, who were aged 15 years or over when assessed at a diagnostic center. A history of passivity in social interaction and impairment of expressive language were associated with the deterioration. No clear relationship was found between a history of catatonia-like features, singly or combined, and catatonia-like deterioration. The findings pose questions for future research.

Adolescent↗

PubMed2006

Families in a state of flux: the experience of grandparents in autism spectrum disorder.

BACKGROUND: The experience of being a grandparent of a grandchild with autism spectrum disorder (ASD) is a previously under-researched area. This study sets out to examine the grandparents' own perspective in an exploratory way using a qualitative approach to answer the question, 'What is the experience like?' METHOD: A qualitative research project, using a purposive sampling technique and semi-structured interviews to examine the experiences of six grandparents of children with ASD diagnosed by a specialist team in a second opinion Tier 4 Child and Adolescent Mental Health Service. RESULTS: The experiences of the grandparents were characterized by three Key Themes which emerged from the interviews: (1) The Parental Bond (protective bonding towards grandchild and adult child); (2) Striving for Answers (searching for meaning); (3) Keeping Intact (holding the family together). CONCLUSION: The study suggests some interesting insights and confirms the need for more attention to this area. A key question raised by the study is how a child-focused multidisciplinary team can embrace its role in delivering a family-centred service. The clinical implications of this project have led to a change of practice in the specialist team. Further research would be appropriate to investigate the therapeutic effectiveness and cost effectiveness of involving grandparents as part of the assessment process.

Adolescent↗

PubMed2004

Activation of the fusiform gyrus when individuals with autism spectrum disorder view faces.

Prior imaging studies have failed to show activation of the fusiform gyrus in response to emotionally neutral faces in individuals with autism spectrum disorder (ASD) [Critchley et al., Brain 124 (2001) 2059; Schultz et al., Arch. Gen. Psychiatry 57 (2000) 331]. However, individuals with ASD do not typically exhibit the striking behavioral deficits that might be expected to result from fusiform gyrus damage, such as those seen in prosopagnosia, and their deficits appear to extend well beyond face identification to include a wide range of impairments in social perceptual processing. In this study, our goal was to further assess the question of whether individuals with ASD have abnormal fusiform gyrus activation to faces. We used high-field (3 T) functional magnetic resonance imaging to study face perception in 11 adult individuals with autism spectrum disorder (ASD) and 10 normal controls. We used face stimuli, object stimuli, and sensory control stimuli (Fourier scrambled versions of the face and object stimuli) containing a fixation point in the center to ensure that participants were looking at and attending to the images as they were presented. We found that individuals with ASD activated the fusiform face area and other brain areas normally involved in face processing when they viewed faces as compared to non-face stimuli. These data indicate that the face-processing deficits encountered in ASD are not due to a simple dysfunction of the fusiform area, but to more complex anomalies in the distributed network of brain areas involved in social perception and cognition.

Adult↗

PubMed2005

What distinguishes autism spectrum disorders from other developmental disorders before the age of four years?

The increasing recognition of the benefits of early intervention for children with autism spectrum disorder (ASD) stresses the importance of early identification of children who might benefit from those programs. However, in the early years of life it may be difficult to distinguish children with ASD from children with other developmental disorders. The aim of the present study was to identify behavioural patterns that could facilitate this differentiation. Prior to diagnostic assessment, 2- and 3-year-old children (n=30), all referred to a clinic for "possible autism", were observed in a semi-structured play interaction, and their parents were interviewed about the children's early development from 0 to 24 months. Following diagnostic assessment, the 17 children fulfilling the ICD-10 criteria for ASD were compared to the 13 children diagnosed with other developmental disorders (outside the autism spectrum). On the basis of parent reports only a few distinguishing signs of ASD were found before 24 months of age. On the basis of professional observations in a semi-structured play interaction several distinguishing signs were found for the 2- and 3-year-olds; smiles in response, responds to name, follows pointing, looks to "read" faces, initiates requesting verbal and nonverbal behaviours, and functional play.

Age Factors↗

PubMed2005

Prelinguistic predictors of vocabulary in young children with autism spectrum disorders.

PURPOSE: The goal of the current study was to identify a predictive model of vocabulary comprehension and production in a group of young children with autism spectrum disorders. Four prelinguistic behaviors were selected for consideration as predictors based on theoretical and empirical support for the relationship of these behaviors to language development. METHOD: The study used a longitudinal correlational design. Participants were twenty-nine 2- and 3-year-olds diagnosed with autism spectrum disorders. The prelinguistic behaviors-attention-following, motor imitation, commenting, and requesting-were measured at the initial visit. Vocabulary comprehension and production were measured 6 months later. RESULTS: Commenting was the only unique predictor of comprehension after the degree of cognitive delay was controlled. Both commenting and motor imitation of actions without objects were unique predictors of production over and above the other skills and when the degree of cognitive delay was controlled. CONCLUSIONS: The finding that both commenting and motor imitation simultaneously accounted for unique variance in vocabulary production is new to the literature and requires replication. However, results suggest that increasing behaviors that allow children with autism to make their current focus of attention obvious to social partners may be an effective approach for supporting word learning in young children with autism.

Autistic Disorder↗

PubMed2005

[Psychodiagnostic instruments for the assessment of autism spectrum disorders].

OBJECTIVES: Established scales for the early detection and general diagnostics of autism will be reviewed with a focus on the instruments available in German. METHODS: All questionnaires, observation scales and interviews for the assessment of autism and associated conditions found in a search of Medline, PsychInfo, Psyndex and Google up to May 2004 are quoted. Instruments adapted and developed for the German-speaking countries are presented in more depth. RESULTS: An increasing number of reliable national and international scales for the assessment of disorders of the autism spectrum are available. Currently a combination of the Social Communication Questionnaire (SCQ), the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) is regarded as the standard for a psychometrically based diagnosis of autism. CONCLUSIONS: For certain diagnostic groups and issues there continues to be a need for German-language instruments. Particularly scales for the assessment of the broader phenotype of autism, as well as instruments that are more sensitive to change would be desirable for outcome measurement and intervention evaluation.

Autistic Disorder↗

PubMed2007

Patterns of nonverbal cognitive functioning in young children with autism spectrum disorders.

Previous research demonstrates an uneven pattern of cognitive abilities in children with autism spectrum disorders (ASDs). This study examined whether this uneven pattern exists within the nonverbal domain in young children. We hypothesized relative strengths in perceptual abilities and weaknesses in nonverbal conceptual abilities in preschoolers with ASDs compared to groups with non-autism developmental delays and typical development. Profiles were examined using the Leiter International Performance Scale-Revised. The ASD group displayed clear relative strengths in visuospatial disembedding and detail-focused processing, with relative weaknesses in abstraction and concept formation. This contrasted with patterns of roughly equivalent abilities in both comparison groups. These findings have implications for subsequent development and may represent key features of the cognitive profile of autism.

Autistic Disorder↗

PubMed2005

Is the presence of urinary indolyl-3-acryloylglycine associated with autism spectrum disorder?

To test whether the presence of indolyl-3-acryloylglycine (IAG) is associated with autism, we analyzed urine from population-based, blinded cohorts. All children in York, UK with autism spectrum disorders (ASDs), diagnosed using ICD-10 research diagnostic criteria, were invited to participate. Fifty-six children on the autism spectrum (mean age 9y 8mo, SD 3y 8mo; 79% male) agreed to participate, as did 155 children without ASDs (mean age 10y, SD 3y 2mo; 54% male) in mainstream and special schools (56 of whom were age-, sex-, and school-matched to children with ASDs). IAG was found at similar levels in the urine of all children, whether IAG concentrations or IAG:creatinine ratios were compared. There was no significant difference between the ASD and the comparison group, and no difference between children at mainstream schools and those at special schools. There is no association between presence of IAG in urine and autism; therefore, it is unlikely to be of help either diagnostically or as a basis for recommending therapeutic intervention with dietary manipulation. The significance of the presence of IAG in urine has yet to be determined.

Adolescent↗

PubMed2006

Autism spectrum disorders associated with X chromosome markers in French-Canadian males.

It is now well established that genetic factors play an important role in the pathogenesis of autism disorder and converging lines of evidence suggest the implication of the X chromosome. Using a sample of subjects diagnosed with autism spectrum disorders, exclusively composed of males from French-Canadian (FC) origin, we tested markers covering the entire X chromosome using a family-based association study. Our initial analysis revealed the presence of association at two loci: DXS6789 (P=0.026) and DXS8043 (P=0.0101). In a second step, we added support to the association at DXS8043 using additional markers, additional subjects and a haplotype-based analysis (best obtained P-value=0.00001). These results provide support for the existence of a locus on the X chromosome that predisposes the FC to autism spectrum disorders.

Adolescent↗