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At least 19 recordsLinked to original sources
PubMed2003

Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: convergence and discrepancy in diagnosing autism.

The agreement between the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS) was investigated in the diagnostic assessment of 54 children aged 22-114 months referred for possible autism. The observed agreement between the two systems was 66.7% (Cohen's kappa = .40) when the ADI-R definition for autism was applied (i.e., scores reaching cutoff in three domains on the ADI-R), but increased considerably with less stringent criteria; that is, scores reaching cutoffs in two domains and in one domain on the ADI-R. As predicted, the CARS identified more cases of autism than the ADI-R. Children classified as autistic according to both instruments had significantly lower IQ/DQ and more severe autistic symptomatology than those classified with the CARS only.

Autistic Disorder↗
PubMed1997

Association of tuberous sclerosis of temporal lobes with autism and atypical autism.

BACKGROUND: Tuberous sclerosis (TS) is a multisystem genetic disorder that is associated with mental retardation, autism, and atypical autism. We investigated the basis for these associations by examining whether the liability to mental retardation and autism or atypical autism is related to the number and distribution of hamartomatous brain growths (cortical tubers) that characterise TS. METHODS: 18 patients consecutively referred to our clinic were assessed for the presence of autism or atypical autism, and their IQs were estimated (without awareness of brain-scan results). Brain scans were reviewed by a neuroradiologist (unaware of clinical diagnoses), and the number and location of cortical tubers was examined in relation to the liability to psychopathology. FINDINGS: Nine of the 18 patients had autism or atypical autism (two with IQ > or = 70; four with IQ 51-69, three with IQ < or = 50; eight with a history of epilepsy). The remaining patients had various other psychiatric disorders (five with IQ > or = 70; four with IQ 51-69; seven had a history of epilepsy). In the group as a whole, the number of tubers was significantly greater (p = 0.005) in patients with mental retardation (median 6 [IQR 4-9]) than in those of normal intelligence (1 [0-3]), and the degree of mental retardation was significantly correlated with the number of brain tubers (rs = 0.64; p = 0.008). Similarly, the number of tubers was significantly greater (p = 0.02) in individuals with a diagnosis of autism or atypical autism (6 [4-8]) than in those without this diagnosis (2 [1-4]). Eight of the nine patients with autism or atypical autism, but none of the non-autistic individuals, had tubers located in the temporal lobes (p = 0.0004). Otherwise, no particular distribution of cortical tubers was associated with a diagnosis of autism or atypical autism. INTERPRETATION: Our investigation provides evidence of an association between a gross, focal brain abnormality detectable on neuroimaging and autism or atypical autism. The results show the importance of scan findings in the prognosis of TS, and also suggest that temporallobe neurodevelopmental abnormalities may create a risk for autism or atypical autism.

Adolescent↗
PubMedDate not supplied

Autism and autism risk in siblings of children with specific language impairment.

BACKGROUND: Several studies have shown that family members of children with autism have elevated rates of spoken and written speech and language problems. AIMS: This study asked whether there was also a greater rate of siblings with autism among probands with specific language impairment. METHODS & PROCEDURES: The probands in this study were 158 children with specific language impairment and 132 children with normal language status. These probands had 522 siblings who were examined for risk of autism using the Autism Behavior Checklist. Siblings found to be at risk were then examined using the Autism Diagnostic Interview--Revised and the Autism Diagnostic Observation Schedule-G. OUTCOMES & RESULTS: A concentration of siblings with risk for a diagnosis of autism was found in association with probands who had poor spoken language skills. Four siblings of the 522 (0.8%) met the diagnostic standards for autism. All the probands of these siblings had spoken language scores below -1 SD and three had diagnoses of spoken language impairment. CONCLUSIONS: These data provide additional support for a familial association between autism and spoken language impairment.

Autistic Disorder↗
PubMed2002

Pregnancy and birth complications in autism and liability to the broader autism phenotype.

OBJECTIVE: To understand better the relationship between pregnancy and birth complications and genetic factors in autism. METHOD: The sample included 78 children with an autism spectrum disorder and 88 unaffected siblings. A standardized interview was used to ask mothers about the pregnancy and birth of each child, and an overall index reflecting freedom from complications (termed "optimality") was determined. The presence of autism-like traits (termed the "broader autism phenotype") in second- and third-degree relatives was ascertained by reports from multiple informants. The pro-. portion of relatives with the broader autism phenotype, corrected for degree of relation, was used as an index of family loading. RESULTS: Children with autism spectrum disorders have lower optimality (higher rates of complications) than unaffected siblings. High family loading for the broader autism phenotype is associated with higher rates of complications in unaffected siblings. Family loading was not significantly associated with complications in affected siblings in this sample. Overall, these findings argue against complications being a direct cause of autism, as one would expect to find the most complications in sporadic cases (i.e., in children without a positive family history). CONCLUSION: Increased rates of birth and pregnancy complications are likely secondary to familial factors associated with autism.

Autistic Disorder↗
PubMed2001

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.

Autistic Disorder↗
PubMed2025

Autism ableism seen through research abstract contents: A mixed-methods analysis of language in NIH-funded genetic and genomic autism research.

In recent years, genetic and genomic autism research has come under increasing scrutiny, moving to the center of debates about ableism, neurodiversity, autism acceptance, and the future of research and care. At the same time, both autism research and genetics and genomics research have, as fields, begun to reckon with the significance of the language researchers use in the course of their work and the harmful ideas that may thereby be reinforced. Although the language of research cannot be assumed to straightforwardly correspond to individual researchers' beliefs, the presence of widespread ableist language may indicate structural and institutionalized ableism, including ableist assumptions at the foundations of research. We conducted a mixed-methods analysis of 166 genetic and genomic autism research projects funded by the US National Institutes of Health, in order to understand the prevalence of potentially ableist discourse, language, and stigmatizing language about autistic people. We found that such discourse and language was ubiquitous across our sample, including a discourse of prevention. This study lends empirical evidence to current debates about language in autism research. Evaluating language can prompt researchers and institutions to reflect on how they conceptualize, design, discuss, and pursue their work.Lay abstractGenetic research about autism is controversial. Researchers are starting to think more carefully about the words they use to talk about autism and the way they do their research. Past research has found that researchers sometimes write about autism in ableist ways. This means that they write about autistic people as though they are less important than nonautistic people. We looked at the way genetics researchers have written about autism in the paperwork for their research. We found that they often write about autistic people in an ableist way. We think that researchers should think carefully about the way they write about autistic people, and how they plan and do their research.

Humans↗
PubMed2000

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism.

The Autism Diagnostic Observation Schedule-Generic (ADOS-G) is a semistructured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having autism spectrum disorders. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language. Psychometric data are presented for 223 children and adults with Autistic Disorder (autism), Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) or nonspectrum diagnoses. Within each module, diagnostic groups were equivalent on expressive language level. Results indicate substantial interrater and test-retest reliability for individual items, excellent interrater reliability within domains and excellent internal consistency. Comparisons of means indicated consistent differentiation of autism and PDDNOS from nonspectrum individuals, with some, but less consistent, differentiation of autism from PDDNOS. A priori operationalization of DSM-IV/ICD-10 criteria, factor analyses, and ROC curves were used to generate diagnostic algorithms with thresholds set for autism and broader autism spectrum/PDD. Algorithm sensitivities and specificities for autism and PDDNOS relative to nonspectrum disorders were excellent, with moderate differentiation of autism from PDDNOS.

Autistic Disorder↗
PubMed1999

An autosomal genomic screen for autism. Collaborative linkage study of autism.

Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two-stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:609-615, 1999.

Adolescent↗
PubMed2003

Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-R.

The current study examined the factor structure of restricted and repetitive behaviors (RRB) in children with autism. Factor extraction procedures of 12 items from the Autism Diagnostic Interview-Revised (ADI-R) were applied in N = 207 individuals with autism. Two interpretable factors were identified: Factor 1--repetitive sensory motor actions and Factor 2--resistance to change. There was a significant negative correlation between an index of level of adaptive functioning and Factor 1. Intraclass correlations were not significant for either factor in a subset of families with two or more siblings with autism (multiplex). No differences in scores were apparent for either factor when multiplex families and families containing only one affected individual with autism (singleton) were compared. RRB in autism are represented by two distinct factors which may reflect two separate groups within autism. Defining subgroups within autism will allow for reduction of clinical heterogeneity and enhance our ability to dissect the genetic etiology of this complex disorder.

Adolescent↗
PubMed2003

Prevalence and patterns of use of psychoactive medicines among individuals with autism in the Autism Society of Ohio.

To date, there have been few surveys of psychotropic and antiepileptic drug (AED) prevalence in individuals with autism-spectrum conditions. We surveyed 747 families in the Autism Society of Ohio regarding the use of psychotropic drugs, AEDs, and over-the-counter (OTC) preparations for autism. In all, 417 families (55.8%) replied. A total of 45.6% were taking some form of psychotropic agent (including St. John's wort and melatonin), whereas 11.5% were taking AEDs, and 10.3% took OTC autism preparations. The most common psychotropic agents included antidepressants (21.6%), antipsychotics (14.9%), antihypertensives (12.5%), and stimulants (11.3%). Some 51.6% were prescribed psychotropic drugs or AEDs, and 55.4% took psychotropic drugs, AEDs, or autism supplements. Demographic variables frequently found to be associated with medication use included greater age, more severe autism, more severe intellectual handicap, and housing outside the family home. Whereas there is empirical support for the use of some of these psychotropic agents in autism, others are being prescribed with minimal research support. OTC autism preparations were used in substantial numbers of individuals, despite limited research support and the possibility of toxic effects.

Adolescent↗
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↗
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↗
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↗