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PubMed1998

The Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: differences between diagnostic systems and comparison between genders.

Diagnoses for autism based on the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS) were examined for 83 individuals with suspected autism. Agreement between systems reached 85.7%. Participants receiving diagnosis of autism based on only one system were significantly younger in age than individuals receiving diagnoses according to both systems. Individuals who did not receive diagnosis of autism on the ADI-R had lower chronological and mental ages and lower CARS scores compared to individuals who received diagnosis of autism based on the ADI-R. Eighteen females and 18 males were matched to examine possible gender differences. No significant findings were revealed, suggesting that the symptoms of autism according to the ADI-R and CARS do not differ between males and females when matched for chronological and mental ages.

Adolescent↗
PubMed2025

The Association of Prenatal Dietary Factors with Child Autism Diagnosis and Autism-Related Traits Using a Mixtures Approach: Results from the Environmental Influences on Child Health Outcomes Cohort.

BACKGROUND: Previous research on the role of maternal diet in relation to autism has focused on examining individual nutrient associations. Few studies have examined associations with multiple nutrients using mixtures approaches, which may better reflect true exposure scenarios. OBJECTIVES: This study aims to examine associations of nutrient mixtures with children's autism diagnosis and trait scores within a large, diverse population. METHODS: Participants were drawn from the United States Environmental influences on Child Health Outcomes (ECHO) consortium. Maternal prenatal diet was reported via validated food frequency questionnaires. Children's autism-related traits were measured using the Social Responsiveness Scale (SRS) and autism diagnoses were from parent reports of physician diagnosis. Bayesian kernel machine regression was used to examine the overall mixture effect and interactions between a set of 5 primary nutrients (folate, vitamin D, omega 3 and omega 6 fatty acids, and iron), adjusted for potential confounders, in relationship to child outcomes. Secondary analyses were conducted in a subset of cohorts with an expanded set of 14 nutrients. Traditional linear and logistic regression models were also analyzed for comparison of results to mixture models. RESULTS: A total of 2614 participants drawn from 7 ECHO cohorts were included in primary analysis. Mixture analyses suggested that increasing the overall 5-nutrient mixture was associated with lower SRS scores. Individual U-shaped associations and bivariate interactions between folate and omega 3 fatty acids were suggested. In the subset included in the secondary analyses of the 14-nutrient mixture, a modest inverse trend remained, but individual nutrient associations were altered, with vitamin D demonstrating higher relative importance than other nutrients. Strong associations with autism diagnosis were not observed. CONCLUSIONS: In this large sample, we found evidence for combined nutrient effects with broader autism-related traits. Because results for individual nutrients were sensitive to mixture components, replication of combined associations between nutrients and autism-related outcomes is needed.

Humans↗
PubMed2002

Autism, regression, and the broader autism phenotype.

The broader autism phenotype (BAP) is a subclinical set of personality and other features that is thought to index familiality and/or genetic liability to autism. Eighteen parents of autistic probands with a history of language regression and 70 parents of autistic probands without regression were assessed for features of the BAP and compared with published rates in parents of nonautistic subjects. Parents of probands with regressive and nonregressive autism demonstrated similar rates of the BAP (27.8% vs. 32.9%; P = 0.33). The rate of the BAP was significantly higher in both groups of autism parents than in parents of nonautistic subjects (P < or = 0.01). Thus, this measure of genetic liability is increased equally in families with both forms of autism when compared with controls. Environmental events are therefore unlikely to be the sole cause of regressive autism in our sample. Environmental events, however, may act in an additive or "second-hit" fashion in individuals with a genetic vulnerability to autism.

Adult↗
PubMed2002

Prevalence and patterns of use of psychoactive medicines in individuals with autism in the Autism Society of North Carolina.

The aim of this study was to assess the prevalence and patterns of psychoactive and over-the-counter medicines in a large cohort of individuals with autism. We conducted a mail survey of 3,228 families that are members of the Autism Society of North Carolina. This is one of the largest chapters of the Autism Society of America. The survey form addressed current medicines used, side effects, demographic characteristics, and medical conditions. Some 1,538 member families within the society (48%) responded to the survey. In all, 703 (45.7%) individuals with autism were taking psychotropic drugs, 191 (12.4%) antiepileptic drugs (AEDs), and 86 (5.7%) supplements for autism. The total number taking psychotropic, antiepileptic, or vitamin treatments was 816 (53.1%). Antidepressants (taken by 21.7% of the sample), antipsychotics (16.8%), and stimulants (13.9%) were the most commonly prescribed agents. Univariate and multivariate analyses were conducted to examine factors associated with treatment. Greater age, more severe autism and mental retardation, and more restricted housing were often associated with greater use of psychoactive agents. These findings suggest that individuals with autism are a frequently medicated group, although the empirical research support for most agents being used is still very limited.

Adolescent↗
PubMed1999

Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism families.

OBJECTIVE: Several studies have shown familial aggregation of some axis I psychiatric disorders in families ascertained through a single autistic proband. In this study the authors examined the rate of axis I psychiatric disorders in nonautistic relatives from multiple-incidence autism families and the possible relationship of these disorders to the broad autism phenotype. METHOD: The rates of axis I psychiatric disorders, assessed by using semistructured and family history interviews, were compared in parents, grandparents, and aunts and uncles ascertained through 25 families of multiple-incidence autism probands and 30 families of probands with Down's syndrome. The possible association between selected psychiatric disorders and the broad autism phenotype, assessed directly through semistructured interviews and observational rating measures, was also examined in the two groups of parents. RESULTS: The parents of the autistic probands had significantly higher rates of major depressive disorder and social phobia than the parents of the Down's syndrome probands. The high rate of depression in the parents of the autistic probands was consistent with the high rates of depression and anxiety detected in the grandparents and aunts and uncles in the autism families by family history. There was no evidence of an association, within individuals, between either depression or social phobia and the broad autism phenotype. CONCLUSIONS: Relatives of autistic individuals have high rates of major depression and social phobia that are not associated with the broad autism phenotype and cannot be explained by the increased stress associated with raising an autistic child. Alternative mechanisms and the scientific and clinical implications of these findings are discussed.

Adolescent↗
PubMed2005

US Department of Education data on "autism" are not reliable for tracking autism prevalence.

Many autism advocacy groups use the data collected by the US Department of Education (USDE) to show a rapidly increasing prevalence of autism. Closer examination of these data to follow each birth-year cohort reveals anomalies within the USDE data on autism. The USDE data show not only a rise in overall autism prevalence with time but also a significant and nearly linear rise in autism prevalence within a birth-year cohort as it ages, with significant numbers of new cases as late as 17 years of age. In addition, an unexpected reduction in the rise of autism prevalence occurs in most cohorts at 12 years of age, the age when most children would be entering middle school. These anomalies point to internal problems in the USDE data that make them unsuitable for tracking autism prevalence.

Adolescent↗
PubMedDate not supplied

[Features of autism, autistic traits, autism: retrospective analysis of clinical symptoms in children treated in the Pediatric Psychiatric Clinic].

All currently accepted definitions of autism include three main criteria which have to be met for a diagnosis to be made. These are: disturbance of reciprocal social interaction, disturbance of communication and restriction of normal variation in behaviour and interests. The criteria used in the ICD-10 include all these domains. On the other hand, the number of mentally handicapping conditions and brain damage syndromes show the same triad of symptoms. Many of patients actually fulfill all currently accepted criteria for autism, but, for some reason do not receive the diagnosis. We analysed retrospectively the clinical picture of all children hospitalised in Department of Child Psychiatry in the last 10 years before the introduction of ICD-10 in Poland (1986-1996) and diagnosed as having autism, autistic traits or features. The group consist of 19 children (0.8% of all children hospitalised in that time). 4 of them had been diagnosed as having autism, 4 as having features of autism and 11 as having autistic traits. Additional diagnoses were: organic brain damage in 2 children, carnitine deficiency and cerebral palsy in 1 child and minimal brain dysfunction in 3 cases. Despite of the diagnosis all children met current ICD-10 criteria for autism or atypical autism, according to age of onset. There were no significant differences in constellation of symptoms included in ICD-10 between groups divided according to the past diagnosis.

Adolescent↗
PubMed2001

The broad autism phenotype: a complementary strategy for molecular genetic studies of autism.

The genetic liability for autism appears to be expressed not only as the full syndrome of autism, but in milder, qualitatively similar characteristics that collectively have been referred to as constituting the broad autism phenotype. Identification of components of the broad autism phenotype that segregate independently in relatives of autistic individuals may provide an index of genes that, when present together, may interact to produce autism. Inclusion of information on the broad autism phenotype in relatives, in linkage studies of autism, may provide a potentially important, complementary approach for detecting the genes causing this condition.

Autistic Disorder↗
PubMed2006

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.

OBJECTIVE: Several genome-wide screens have been performed in autism spectrum disorders resulting in the identification of numerous putative susceptibility loci. Analyses of pooled primary data should result in an increased sample size and the different study samples have a potential to strengthen the evidence for some earlier identified loci, reveal novel loci, and even to provide information of the general significance of the locus. The objective of this study was to search for potential susceptibility loci for autism, which are supported by two independent samples. METHODS: We performed a combined analysis of the primary genome scan data of the Autism Genetic Resource Exchange (AGRE) and Finnish autism samples to reveal susceptibility loci potentially shared by these study samples. RESULTS: In the initial combined data analysis, the best loci (p < 0.05) were observed at 1p12-q25, 3p24-26, 4q21-31, 5p15-q12, 6q14-21, 7q33-36, 8q22-24, 17p12-q21, and 19p13-q13. The combined analysis of Finnish and AGRE families showed the most promising shared locus on 3p24-26 with nonparametric logarithm of odds (NPL) score of 2.20 (p = 0.011). The combined data analysis did not provide increased linkage evidence for the earlier identified loci on 3q25-27 or 17p12-q21. However, the 17p12-q21 locus remained promising also in the combined sample (NPL(all) =2.38, p = 0.0076). INTERPRETATION: Our study of 314 autism families highlights the importance of further analyses on 3p24-26 locus involving comprehensive molecular genetic analyses of oxytocin receptor gene (OXTR), a positional and functional candidate gene for autism.

Animals↗
PubMed1992

Comparison of DSM-III-R and childhood autism rating scale diagnoses of autism.

The purpose of this study was to clarify the issue of whether DSM-III-R (American Psychological Association [APA], 1987) over- or underdiagnoses autism by comparing this diagnostic system to a well-established objective measure of diagnosis, the Childhood Autism Rating Scale (CARS). A secondary goal was to determine which of the 16 criteria are the best discriminators of autism. DSM-III-R, CARS, and clinical diagnoses of 138 consecutive admissions to a statewide program for the diagnosis and treatment of autistic and related communication-handicapped individuals (Division TEACCH in North Carolina) were compared. Results indicated a generally high degree of agreement on the diagnosis of autism using the three systems. Within this treatment-oriented program, the CARS and clinical ratings diagnosed a greater number of cases as autistic than did the DSM-III-R criteria, suggesting that DSM-III-R slightly underdiagnosed autism. The criteria that most strongly related to the diagnosis of autism regardless of the system were lack of awareness of others, abnormal social play, an impaired ability to make friends, abnormal nonverbal communication, stereotypic body movements, and restricted range of interests.

Adolescent↗
PubMed2004

Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19.

Although there is considerable evidence for a strong genetic component to idiopathic autism, several genome-wide screens for susceptibility genes have been carried out with limited concordance of linked loci, reflecting numerous genes of weak effect and/or sample heterogeneity. In the current study, linkage analysis was carried out in a sample of 62 autism-affected relative pairs with more severe obsessive-compulsive behaviors, selected from a larger (n=115) set of autism-affected relative pairs as a means of reducing sample heterogeneity. Obsessive-compulsive behaviors were assessed using the Autism Diagnostic Interview-Revised (ADI-R). In the sample with more severe obsessive-compulsive behaviors, multipoint NPL scores above 2 were observed on chromosomes 1, 4, 5, 6, 10, 11 and 19, with the strongest evidence for linkage on chromosome 1 at the marker D1S1656, where the multipoint NPL score was 3.06, and the two-point NPL score was 3.21. In follow-up analyses, analyzing the subset of families (n=35) where the patients had the most severe obsessive-compulsive behaviors generated a multipoint NPL score of 2.76, and a two-point NPL score of 2.79, indicating that the bulk of evidence for linkage was derived from the families most severely affected with obsessive-compulsive behaviors. The data suggest that there is an autism susceptibility gene on chromosome 1 and provide further support for the presence of autism susceptibility genes on chromosomes 6 and 19.

Autistic Disorder↗
PubMed2006

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.

The identification of the candidate genes for autism through linkage and association studies has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic abnormalities associated with autism. We present a review of all studies to date that relate patients with cytogenetic abnormalities to the autism phenotype. A literature survey of the Medline and Pubmed databases was performed, using multiple keyword searches. Additional searches through cited references and abstracts from the major genetic conferences from 2000 onwards completed the search. The quality of the phenotype (i.e. of the autism spectrum diagnosis) was rated for each included case. Available specific probe and marker information was used to define optimally the boundaries of the cytogenetic abnormalities. In case of recurrent deletions or duplications on chromosome 15 and 22, the positions of the low copy repeats that are thought to mediate these rearrangements were used to define the most likely boundaries of the implicated 'Cytogenetic Regions Of Interest' (CROIs). If no molecular data were available, the sequence position of the relevant chromosome bands was used to obtain the approximate molecular boundaries of the CROI. The findings of the current review indicate: (1) several regions of overlap between CROIs and known loci of significant linkage and/or association findings, and (2) additional regions of overlap among multiple CROIs at the same locus. Whereas the first finding confirms previous linkage/association findings, the latter may represent novel, not previously identified regions containing genes that contribute to autism. This analysis not only has confirmed the presence of several known autism risk regions but has also revealed additional previously unidentified loci, including 2q37, 5p15, 11q25, 16q22.3, 17p11.2, 18q21.1, 18q23, 22q11.2, 22q13.3 and Xp22.2-p22.3.

Autistic Disorder↗
PubMed2001

Exploring the cognitive phenotype of autism: weak "central coherence" in parents and siblings of children with autism: I. Experimental tests.

Previous twin and family studies have indicated that there are strong genetic influences in the etiology of autism, and provide support for the notion of a broader phenotype in first-degree relatives. The present study explored this phenotype in terms of one current cognitive theory of autism. Parents and brothers of boys with autism, boys with dyslexia, and normal boys were given tests of "central coherence", on which children with autism perform unusually well due to an information-processing bias favouring part/detail processing over processing of wholes/meaning. Results indicated that fathers of boys with autism, as a group, showed piecemeal processing across four tests of central coherence. This was not true for any other group. These findings raise the possibility that the broader autism phenotype may include a "cognitive style" (weak central coherence) that can confer information-processing advantages.

Adolescent↗
PubMed2004

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder and schizophrenia. In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. The coding regions, adjacent splicing junctions, and highly conserved segments of the 3'-untranslated region (3'-UTR) were examined in 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases by detection of virtually all mutations-single strand conformation polymorphism (SSCP) (DOVAM-S). To our knowledge, this is the first analysis of variants in conserved regions of the 3'-UTR of this gene. A total of 5.2 kb per haploid gene was analyzed (1.5 Mb for 214 patients). A higher frequency of missense and 3'-UTR variants was found in autism. One missense and two 3'-UTR variants were found in 24 patients with autism versus one patient with a missense change in 144 ethnically similar individuals without autism (P = 0.009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study.

3' Untranslated Regions↗
PubMed1988

New perspectives in autism, Part II: The differential diagnosis and neurobiology of autism.

The clinical spectrum of autism spans a broad range of functions, but the core symptoms remain the same regardless of the intelligence of the child: the autistic type of social deficit that ranges from a lack of inclination to relate to extreme difficulty with the mechanics of social interactions, a global communication deficit that involves both verbal and nonverbal modes, and a severe cognitive deficit involving concept formation (abstraction) that is combined with an exceptional memory for factual information. These symptoms may vary dramatically in severity, but the basic deficits are identifiable regardless of IQ. Under-recognition of autism is a major problem at all IQs, but especially in patients with IQs above 50. No drugs have been found to significantly improve the core deficits in autism. Antipsychotics should be avoided except for short-term use. Antidepressants, anxiolytics, and anticonvulsants are important in the treatment of depression, affective modulation, situation-related stress, and seizures. Intensive social skills training is assuming a prominent role in behavior modification programs, and success with higher-functioning autistic children suggests that outcome can be improved by intensive training. The neurobiology of autism has also undergone dramatic changes. The psychogenic theories of etiology have been completely invalidated. Autism is now considered to be a neurological disorder resulting from an error in brain development. The precise location and nature of this deficit are still being actively debated and investigated. One theory emphasizes a dysfunction of the limbic system that results in an impairment in the acquisition of information. A second theory proposes a primary role for dysfunction of the cortical association network responsible for the processing of information.

Autistic Disorder↗
PubMed2006

Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP).

BACKGROUND: Recent reports have suggested that the prevalence of autism and related spectrum disorders (ASDs) is substantially higher than previously recognised. We sought to quantify prevalence of ASDs in children in South Thames, UK. METHODS: Within a total population cohort of 56 946 children aged 9-10 years, we screened all those with a current clinical diagnosis of ASD (n=255) or those judged to be at risk for being an undetected case (n=1515). A stratified subsample (n=255) received a comprehensive diagnostic assessment, including standardised clinical observation, and parent interview assessments of autistic symptoms, language, and intelligence quotient (IQ). Clinical consensus diagnoses of childhood autism and other ASDs were derived. We used a sample weighting procedure to estimate prevalence. FINDINGS: The prevalence of childhood autism was 38.9 per 10,000 (95% CI 29.9-47.8) and that of other ASDs was 77.2 per 10,000 (52.1-102.3), making the total prevalence of all ASDs 116.1 per 10,000 (90.4-141.8). A narrower definition of childhood autism, which combined clinical consensus with instrument criteria for past and current presentation, provided a prevalence of 24.8 per 10,000 (17.6-32.0). The rate of previous local identification was lowest for children of less educated parents. INTERPRETATION: Prevalence of autism and related ASDs is substantially greater than previously recognised. Whether the increase is due to better ascertainment, broadening diagnostic criteria, or increased incidence is unclear. Services in health, education, and social care will need to recognise the needs of children with some form of ASD, who constitute 1% of the child population.

Autistic Disorder↗
PubMed2000

Implicit and explicit memory in autism: is autism an amnesic disorder?

Medial temporal lobe amnesic disorder is characterized by an impairment in explicit memory (e.g., remembering a shopping list) and intact implicit memory (e.g., a woman seems familiar although you cannot remember having met her before). This study examined whether children with high-functioning autism have this same dissociation between explicit and implicit memory abilities. Children with autism and normal development participated in three memory tasks: one implicit task (perceptual identification) and two explicit tasks (recognition and recall). Children with autism showed intact implicit and explicit memory abilities. However, they did not show the typical pattern of recalling more items from both the beginning and end of a list and instead only recalled items from the end of the list. These results do not support the theory that high-functioning autism is a type of medial temporal lobe amnesia. However, these findings suggest that persons with autism use different organizational strategies during encoding or retrieval of items from memory.

Adolescent↗
PubMed1997

Diagnosing autism: analyses of data from the Autism Diagnostic Interview.

Results from ROC curves of items from two scales, the Autism Diagnostic Interview (ADI) and Autism Diagnostic Interview-Revised (ADI-R), operationalizing DSM-IV criteria for autism are presented for 319 autistic and 113 other subjects from 8 international autism centers. Analyses indicate that multiple items were necessary to attain adequate sensitivity and specificity if samples with varying levels of language were considered separately. Although considering only current behavior was generally sufficient when a combination cutoff and additive model was employed, predictive power was highest when history was taken into account. A single set of criteria, as operationalized by individually structured questions in the ADI/ADI-R, was effective in differentiating autism from mental handicap and language impairment in subjects with a range of chronological ages and developmental levels.

Adolescent↗