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PubMed2001

[Current status of autism studies].

The current status of autism studies was reviewed based on English articles published during the 1990s. Although the concepts of autism and pervasive developmental disorders (PDD) are established, diagnostic criteria of PDDNOS or atypical autism, which is frequently difficult to differentiate from autism, need to be established. The prevalence of autism has been estimated as about 0.05% in the U.S and many European countries, while it was reported to be 0.1% or higher in Japan and some European countries, though the reasons for this difference are unclear. High-functioning (IQ > or = 70) autism may not be as rare a condition as previously thought and both its difference from and similarity to Asperger's syndrome, the highest functioning PDD subtype, need clarification. About 20 to 40% of children with autism lose meaningful words by the age of 2 years and display autistic symptoms thereafter. Such autism, called the setback type in Japan, has been demonstrated to have a poorer adolescent/adult outcome compared to autism without setback and its relationship with childhood disintegrative disorder, which displays a clearer regression after normal development for at least the first 2 years of life, needs to be addressed. The etiology of autism is now considered mostly genetic for reasons, such as the significantly higher concordance rate of autism in identical twin pairs (60-80%) than in fraternal twin pairs (0-10%) and an 3-5% incidence of autism among sibs of an autism proband, 30 to 100 times higher than that in the general population. The involvement of several genes is implicated to create susceptibility for autism, yet the responsible genes have not been identified. Although there is no medication to cure autism, some psychotropic drugs, such as antipsychotics and SSRIs, seem effective for behavior problems in autism patients. Psychosocial treatments are the main therapeutic approach to autism, though they are yet to be well systematized. It is important to evaluate various autism treatments now practiced and to integrate effective ones into an efficient therapeutic system. Early diagnosis of PDD, support for the mother to develop a better relationship with her autistic infant, enrollment of an autistic infant in a day care for handicapped or non-handicapped infants, education in a relevant school, vocational training, treatment of behavior problems, and establishing social welfare services are a framework of the therapeutic system of autism. Much should be done to improve the long-term outcome of autism patients, including high-functioning autism.

Antipsychotic Agents↗

PubMed2004

Could ECT be effective in autism?

Autism is increasingly diagnosed, but therapeutic options are limited in many children. ECT is considered as a safe, effective, and life-saving treatment in people of all ages who suffer from affective disorders, acute psychosis, and, in particular, catatonia. There are recent speculations that certain types of autism may be the earliest expression of catatonia and that both disorders have identical risk factors. Therefore, ECT may improve autism and, if started early enough, may prevent further development of autistic symptoms in some children. The use of ECT in autism has never been systematically assessed. There have been two large ECT studies in children in the 1940s. Autism was not assessed in these studies because the autistic syndrome was just then being recognized as a separate entity. Findings from these studies add little to the hypothesis that ECT may be effective in autistic children, but attest to the safety and feasibility of ECT in children. Another limitation is the use of older ECT techniques. What may well be the greatest deterrent to use ECT in autism is widespread anti- ECT sentiment not only among the public but within the medical community as well. All child specialists--psychiatrists, neurologists, psychologists, and developmental pediatricians--should independently review the feasibility, potential, and risk of using ECT in autism. Unless anti-ECT prejudice can be overcome, it is unlikely that any ECT trial in autism is forthcoming. Research areas that may support the hypothesis that ECT is effective in autism should be pursued. First, any link between autism and catatonia should be further explored in clinical and biochemical studies. A GABA theory of autism and catatonia may be pivotal. Second, the role of abnormal GABAA receptor subunit genes in autism and catatonia should be further assessed. Candidate loci for autism and catatonia have been found on the long arm of chromosome 15 where three GABAA receptor subunits genes are located. The GABAA receptor beta 3 subunit gene (GABRB3) was the leading candidate gene for a subgroup of autism in two independent studies. Third, a novel genetic mouse model of autism should be tested. Mutant mice with a targeted deletion of the GABRB3 gene have a complete deficit of the beta 3 subunit of the GABAA receptor. This knockout mouse model seems promising to study developmental effects of altered GABAA receptor function as it relates to certain developmental disorders including autism.

Autistic Disorder↗

PubMed2006

Inattention, hyperactivity, and impulsivity in teenagers with intellectual disabilities, with and without autism.

OBJECTIVE: To explore inattentive, hyperactive, and impulsive behaviours in teenagers with intellectual disabilities (ID), with and without autism. METHOD: We identified teenagers with ID, with and without autism, in a single geographic area. Those with autism were matched for age, sex, and nonverbal IQ to those with ID only. We compared inattentive, hyperactive, and impulsive (IHI) behaviours in the 2 groups, along with adaptive functioning and medical circumstances. We further subdivided the autism group into those with IHI behaviours (autism IHI) and those without (autism non-IHI) and explored similarities and differences between autism subgroups. RESULTS: As a group, those with autism and ID had more IHI behaviours than those with ID alone. More in the autism group met criteria for attention-deficit hyperactivity disorder and hyperkinetic syndrome. Lifetime exposure to psychotropic medication was greater in the autism group, with stimulant and antipsychotic medications predominating. However, just under one-half of those in the autism group showed no IHI behaviours. Comparison of autism IHI and autism non-IHI groups showed that those with IHI behaviours were significantly more likely to have past (but not current) exposure to stimulant medication. CONCLUSIONS: One in 2 teenagers with ID and coexisting autism displayed clinically significant inattentive, hyperactive, and (or) impulsive behaviours, compared with 1 in 7 of those with ID alone. Most of the remaining teenagers with autism displayed no IHI behaviours. Our results support the need for further investigation into the prevalence and etiology of these IHI behaviours in individuals with autism.

Adolescent↗

PubMed2003

Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study.

To gain insight into the specificity of cerebellar vermian abnormalities reported in autism, we conducted a magnetic resonance imaging (MRI) study of boys with either of two conditions associated with autism, Down syndrome and fragile X syndrome, compared with boys with idiopathic autism and controls. The subjects, ranging in age from 3 to 9 years, included 16 boys with Down syndrome + autism and 11 boys with Down syndrome only; 13 boys with fragile X syndrome + autism and 9 boys with fragile X syndrome only; 10 boys with idiopathic autism; and 22 controls. Diagnosis of autism was based on DSM-IV criteria, confirmed primarily by the Autism Diagnostic Interview. T1-weighted midsagittal MRIs were used to measure midline structures. Intracranial area, reflecting brain size, was significantly smaller in subjects with Down syndrome. Therefore, all vermian measures were expressed as ratios to intracranial area. Analysis of covariance (covarying for age and IQ) demonstrated that posterior vermi (lobules VI-VII and VIII-X) were markedly smaller in both Down syndrome groups and those with fragile X syndrome only, whereas only lobules VI-VII were reduced in idiopathic autism. Factorial analyses of variance tested interactions between autism factor and the diagnosis of Down syndrome or fragile X syndrome. The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with autism with respect to fragile X syndrome only. We conclude that selective posterior vermis hypoplasia is seen not only in idiopathic autism but also in Down syndrome and some individuals with fragile X syndrome. However, reductions in vermian lobules VI and VII appear to be specific to idiopathic autism, whereas increased size of lobules VI and VII is associated with autism in fragile X syndrome. The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome.

Autistic Disorder↗

PubMed2006

A comparison of health care utilization and costs of children with and without autism spectrum disorders in a large group-model health plan.

OBJECTIVE: Data on the current costs of medical services for children with autism spectrum disorders are lacking. Our purpose for this study was to compare health care utilization and costs of children with and without autism spectrum disorders in the same health plan. PATIENTS AND METHODS: Participants included all 2- to 18-year-old children with autism spectrum disorders (n = 3053) and a random sample of children without autism spectrum disorders (n = 30529) who were continuously enrolled in the Kaiser Permanente Medical Care Program in northern California between July 1, 2003, and June 30, 2004. Data on health care utilization and costs were derived from health plan administrative databases. MAIN OUTCOME MEASURES: Outcome measures included mean annual utilization and costs of health services per child. RESULTS: Children with autism spectrum disorders had a higher annual mean number of total clinic (5.6 vs 2.8), pediatric (2.3 vs 1.6), and psychiatric (2.2 vs 0.3) outpatient visits. A higher percentage of children with autism spectrum disorders experienced inpatient (3% vs 1%) and outpatient (5% vs 2%) hospitalizations. Children with autism spectrum disorders were nearly 9 times more likely to use psychotherapeutic medications and twice as likely to use gastrointestinal agents than children without autism spectrum disorders. Mean annual member costs for hospitalizations (550 dollars vs 208 dollars), clinic visits (1373 dollars vs 540 dollars), and prescription medications (724 dollars vs 96 dollars) were more than double for children with autism spectrum disorders compared with children without autism spectrum disorders. The mean annual age- and gender-adjusted total cost per member was more than threefold higher for children with autism spectrum disorders (2757 dollars vs 892 dollars). Among the subgroup of children with other psychiatric conditions, total mean annual costs were 45% higher for children with autism spectrum disorders compared with children without autism spectrum disorders; excess costs were largely explained by the increased use of psychotherapeutic medications. CONCLUSIONS: The utilization and costs of health care are substantially higher for children with autism spectrum disorders compared with children without autism spectrum disorders. Research is needed to evaluate the impact of improvements in the management of children with autism spectrum disorders on health care utilization and costs.

Adolescent↗

PubMed2005

Essential versus complex autism: definition of fundamental prognostic subtypes.

Heterogeneity within the autism diagnosis obscures the genetic basis of the disorder and impedes our ability to develop effective treatments. We found that by using two readily available tests, autism can be divided into two subgroups, "essential autism" and "complex autism," with different outcomes and recurrence risks. Complex autism consists of individuals in whom there is evidence of some abnormality of early morphogenesis, manifested by either significant dysmorphology or microcephaly. The remainder have "essential autism." From 1995 to 2001, 260 individuals who met DSM-IV criteria for autistic disorder were examined. Five percent (13/260) were microcephalic and 16% (41/260) had significant physical anomalies. Individually, each trait predicted a poorer outcome. Together they define the "complex autism" subgroup, comprising 20% (46/233) of the total autism population. Individuals with complex autism have lower IQs (P=0.006), more seizures (P=0.0008), more abnormal EEGs (46% vs. 30%), more brain abnormalities by MRI (28% vs. 13%). Everyone with an identifiable syndrome was in the complex group. Essential autism defines the more heritable group with higher sib recurrence (4% vs. 0%), more relatives with autism (20% vs. 9%), and higher male to female ratio (6.5:1 vs. 3.2:1). Their outcome was better with higher IQs (P=0.02) and fewer seizures (P=0.0008). They were more apt to develop autism with a regressive onset (43% vs. 23%, P=0.02). Analysis of the features predictive of poor outcome (IQ<55, functionally non-verbal) showed that microcephaly was 100% specific but only 14% sensitive; the presence of physical anomalies was 86% specific and 34% sensitive. The two tests combined yielded 87% specificity, 47% sensitivity, and an odds ratio of 4.8:1 for poor outcome. Separating essential from complex autism should be the first diagnostic step for children with autism spectrum disorders as it allows better prognostication and counseling. Definition of more homogeneous populations should increase power of research analyses.

Adolescent↗

PubMed1992

Autism and tuberous sclerosis.

Autism is a behavior disorder with genetic influences indicated from twin and family studies and from the co-occurrence of autism with known genetic disorders. Tuberous sclerosis complex (TSC) is a known genetic disorder with behavioral manifestations including autism. A literature review of these two disorders substantiates a significant association of autism and TSC with 17-58% of TSC subjects manifesting autism and 0.4-3% of autistic subjects having TSC. In initial data collected on 13 TSC probands and 14 autistic probands in our family study of autism and TSC, we identified 7 TSC subjects with autism. The seven TSC autistic probands are similar to non-TSC autistic probands on the Social and Communication domains of the Autism Diagnostic Inventory (ADI) (Le Couteur et al., 1989), but show fewer Repetitive Rituals. There are more male TSC probands with autism than female, despite an equal sex ratio among TSC probands. The TSC probands with autism have significantly more seizures and mental retardation than those without autism; however, the extent and etiology of associations require further study. Our preliminary findings suggest that a fruitful approach for delineating genetic influences in autism may come from further investigation of possible mechanisms underlying the association of autism and TSC.

Autistic Disorder↗

PubMed2006

Oxidative stress in autism.

Autism is a severe developmental disorder with poorly understood etiology. Oxidative stress in autism has been studied at the membrane level and also by measuring products of lipid peroxidation, detoxifying agents (such as glutathione), and antioxidants involved in the defense system against reactive oxygen species (ROS). Lipid peroxidation markers are elevated in autism, indicating that oxidative stress is increased in this disease. Levels of major antioxidant serum proteins, namely transferrin (iron-binding protein) and ceruloplasmin (copper-binding protein), are decreased in children with autism. There is a positive correlation between reduced levels of these proteins and loss of previously acquired language skills in children with autism. The alterations in ceruloplasmin and transferrin levels may lead to abnormal iron and copper metabolism in autism. The membrane phospholipids, the prime target of ROS, are also altered in autism. The levels of phosphatidylethanolamine (PE) are decreased, and phosphatidylserine (PS) levels are increased in the erythrocyte membrane of children with autism as compared to their unaffected siblings. Several studies have suggested alterations in the activities of antioxidant enzymes such as superoxide dismutase, glutathione peroxidase, and catalase in autism. Additionally, altered glutathione levels and homocysteine/methionine metabolism, increased inflammation, excitotoxicity, as well as mitochondrial and immune dysfunction have been suggested in autism. Furthermore, environmental and genetic factors may increase vulnerability to oxidative stress in autism. Taken together, these studies suggest increased oxidative stress in autism that may contribute to the development of this disease. A mechanism linking oxidative stress with membrane lipid abnormalities, inflammation, aberrant immune response, impaired energy metabolism and excitotoxicity, leading to clinical symptoms and pathogenesis of autism is proposed.

Journal Article↗

PubMed2005

Immunological findings in autism.

The immunopathogenesis of autism is presented schematically in Fig. 1. Two main immune dysfunctions in autism are immune regulation involving pro-inflammatory cytokines and autoimmunity. Mercury and an infectious agent like the measles virus are currently two main candidate environmental triggers for immune dysfunction in autism. Genetically immune dysfunction in autism involves the MHC region, as this is an immunologic gene cluster whose gene products are Class I, II, and III molecules. Class I and II molecules are associated with antigen presentation. The antigen in virus infection initiated by the virus particle itself while the cytokine production and inflammatory mediators are due to the response to the putative antigen in question. The cell-mediated immunity is impaired as evidenced by low numbers of CD4 cells and a concomitant T-cell polarity with an imbalance of Th1/Th2 subsets toward Th2. Impaired humoral immunity on the other hand is evidenced by decreased IgA causing poor gut protection. Studies showing elevated brain specific antibodies in autism support an autoimmune mechanism. Viruses may initiate the process but the subsequent activation of cytokines is the damaging factor associated with autism. Virus specific antibodies associated with measles virus have been demonstrated in autistic subjects. Environmental exposure to mercury is believed to harm human health possibly through modulation of immune homeostasis. A mercury link with the immune system has been postulated due to the involvement of postnatal exposure to thimerosal, a preservative added in the MMR vaccines. The occupational hazard exposure to mercury causes edema in astrocytes and, at the molecular level, the CD95/Fas apoptotic signaling pathway is disrupted by Hg2+. Inflammatory mediators in autism usually involve activation of astrocytes and microglial cells. Proinflammatory chemokines (MCP-1 and TARC), and an anti-inflammatory and modulatory cytokine, TGF-beta1, are consistently elevated in autistic brains. In measles virus infection, it has been postulated that there is immune suppression by inhibiting T-cell proliferation and maturation and downregulation MHC class II expression. Cytokine alteration of TNF-alpha is increased in autistic populations. Toll-like-receptors are also involved in autistic development. High NO levels are associated with autism. Maternal antibodies may trigger autism as a mechanism of autoimmunity. MMR vaccination may increase risk for autism via an autoimmune mechanism in autism. MMR antibodies are significantly higher in autistic children as compared to normal children, supporting a role of MMR in autism. Autoantibodies (IgG isotype) to neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) are significantly increased in autistic patients (Singh et al., 1997). Increase in Th2 may explain the increased autoimmunity, such as the findings of antibodies to MBP and neuronal axonal filaments in the brain. There is further evidence that there are other participants in the autoimmune phenomenon. (Kozlovskaia et al., 2000). The possibility of its involvement in autism cannot be ruled out. Further investigations at immunological, cellular, molecular, and genetic levels will allow researchers to continue to unravel the immunopathogenic mechanisms' associated with autistic processes in the developing brain. This may open up new avenues for prevention and/or cure of this devastating neurodevelopmental disorder.

Antibody Formation↗

PubMedDate not supplied

Expression of pain in children with autism.

OBJECTIVES: Reduced pain sensitivity is widely reported to be a common feature of children with autism, yet this conclusion frequently has been based on anecdotal observations and questionable measures of pain. The aims of the study were to (1) characterize the behavioral response of children with autism experiencing a venepuncture using objective observational measures of pain and distress, (2) examine parents' assessments of pain behavior in children with and without autism, including comparison of the relationship of parental reports with behavioral measures, and (3) compare the behavioral reactions and parental assessments of children with autism with children without autism undergoing venepuncture. METHODS: Pain reactions to the invasive procedure of venepuncture were videotaped, systematically described and compared in 21 children with autism (3-7 years old) and 22 nonimpaired children, the latter providing a chronological age and gender equivalent comparison group. Parents provided observer reports of pain, and facial activity was used as an objective behavioral measure of pain. RESULTS: The children with autism displayed a significant facial pain reaction in response to the venepuncture procedure. There was a lack of concordance between parental reports of pain and observed pain responses for the children with autism. Behavioral responses of the children with autism were generally similar to the comparison group, except the substantial facial pain reactivity instigated by the venepuncture in the children with autism exceeded that displayed by the nonimpaired comparison children. Parent reports of pain severity did not differ between the autism and comparison groups. The degree of concordance between parental report and observed pain responses was consistently better for the comparison group. DISCUSSION: The findings demonstrate that children with autism display a significant behavioral reaction in response to a painful stimulus, and these findings are in sharp contrast to the prevailing beliefs of pain insensitivity described in the literature to date. The findings also raise questions about the appropriateness of parental global report as an assessment tool for pain in children with autism.

Autistic Disorder↗

PubMed2006

Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism.

BACKGROUND: It is not known whether those with co-morbid fragile X syndrome (FXS) and autism represent a distinct subtype of FXS; whether the especially severe cognitive delays seen in studies of young children with co-morbid FXS and autism compared with those with only FXS continue into adolescence and young adulthood; and whether autism in those with FXS is 'true autism', i.e. reflects the same underlying problems as idiopathic autism. METHOD: We compared the non-verbal IQ of adolescents and young adults with co-morbid FXS and autism (n = 10) with those with only FXS (n = 44). We then created a subsample of those with FXS only, matched on non-verbal IQ, mental age and gender (n = 21) to the subsample of those with co-morbid FXS and autism. We compared the two groups on measures of expressive language, receptive language (lexical, grammatical morphology and syntactic patterns), and a theory of mind task. RESULTS: Those with co-morbid FXS and autism had lower non-verbal IQs than those with only FXS. The participants with co-morbid FXS and autism did not perform as well as the cognitive ability- and gender-matched participants with only FXS on the three measures of receptive language or the theory of mind task; there were no differences on the expressive language measure. CONCLUSIONS: Our findings support the notion that those with co-morbid FXS and autism represent a distinct subtype of FXS, with more impairment in receptive language and theory of mind even when controlling for their lower non-verbal IQ relative to those with only FXS. The greater cognitive impairments observed in those with co-morbid FXS and autism continues into adolescence and young adulthood; and the autism seen in those with FXS appears to be the same as idiopathic autism.

Adolescent↗

PubMed1991

Genetic influences in autism.

Two behavior genetic research strategies have been utilized to understand gene influences in autism. There is overwhelming evidence for gene involvement, although an exact mode of inheritance has not yet been elucidated. Family and twin studies illustrate that the clinical phenotype of autism is not sufficient to characterize the underlying genotype(s) involved. Exactly what should be included in the phenotype remains elusive. Cognitive and social deficits are indicated as milder variants of the autism phenotype, but precisely how to define these deficits requires further research. Furthermore, more complex models of inheritance (e.g., two-locus models--multifactorial and major gene) may be necessary to explain gene influences in autism. Genetic heterogeneity is indicated in autism, with an X-linked disorder, fragile X, and an autosomal dominant disorder, tuberous sclerosis, together accounting for perhaps 8% to 11% or more of cases of autism. Differences in family patterns (i.e., recurrence risks) of neuropsychiatric disorders between autism with and without mental retardation or other clinically defined groups (e.g., males and females) are suggested. Whether these differences represent genetic heterogeneity or multifactorial inheritance with varying thresholds (e.g., of severity or sex differences) cannot be distinguished on the basis of the data available to date. Autosomal recessive inheritance is suggested in a subgroup of families with autism, but the proportion of all autism that may be accounted for by autosomal recessive inheritance is unknown. Evidence exists that stoppage occurs in families with autism, however, and this can affect accurate estimates of segregation ratios when not taken into account. Future family studies need to report (1) exact ascertainment schemes and specification of probands and (2) sex and birth order of affected siblings, including sibship size, so that data may be pooled and such effects can be tested. Investigations of populations with fragile X or tuberous sclerosis as well as those with autism (without known genetic disorders) will identify the etiologic basis of these associations. Such associations may be due to linkage of genes underlying autism and those underlying the known genetic disorders (i.e., linkage disequilibrium) or shared brain pathophysiology or merely shared overt behaviors. Until such mechanisms are elucidated, we can use only empiric risk figures in genetic counseling situations of autism, assuming that no known genetic or environmental cause is identified. Pooling available data from family and twin studies, the following empiric risks are suggested for genetic counseling purposes. An average sibling risk (frequency of affected siblings among all siblings) based on pooled data is 3% (i.e., 57/1698).(ABSTRACT TRUNCATED AT 400 WORDS)

Autistic Disorder↗

PubMed2006

Autism from 2 to 9 years of age.

CONTEXT: Autism represents an unusual pattern of development beginning in the infant and toddler years. OBJECTIVES: To examine the stability of autism spectrum diagnoses made at ages 2 through 9 years and identify features that predicted later diagnosis. DESIGN: Prospective study of diagnostic classifications from standardized instruments including a parent interview (Autism Diagnostic Interview-Revised [ADI-R]), an observational scale (Pre-Linguistic Autism Diagnostic Observation Schedule/Autism Diagnostic Observation Schedule [ADOS]), and independent clinical diagnoses made at ages 2 and 9 years compared with a clinical research team's criterion standard diagnoses. SETTING: Three inception cohorts: consecutive referrals for autism assessment to (1) state-funded community autism centers, (2) a private university autism clinic, and (3) case controls with developmental delay from community clinics. PARTICIPANTS: At 2 years of age, 192 autism referrals and 22 developmentally delayed case controls; 172 children seen at 9 years of age. MAIN OUTCOME MEASURES: Consensus best-estimate diagnoses at 9 years of age. RESULTS: Percentage agreement between best-estimate diagnoses at 2 and 9 years of age was 67, with a weighted kappa of 0.72. Diagnostic change was primarily accounted for by movement from pervasive developmental disorder not otherwise specified to autism. Each measure at age 2 years was strongly prognostic for autism at age 9 years, with odds ratios of 6.6 for parent interview, 6.8 for observation, and 12.8 for clinical judgment. Once verbal IQ (P = .001) was taken into account at age 2 years, the ADI-R repetitive domain (P = .02) and the ADOS social (P = .05) and repetitive domains (P = .005) significantly predicted autism at age 9 years. CONCLUSIONS: Diagnostic stability at age 9 years was very high for autism at age 2 years and less strong for pervasive developmental disorder not otherwise specified. Judgment of experienced clinicians, trained on standard instruments, consistently added to information available from parent interview and standardized observation.

Adult↗

PubMed2005

Joubert syndrome is not a cause of classical autism.

A previous report noted a 27% prevalence of autism in Joubert syndrome (JS), raising the question of overlapping etiologies. Family studies have shown that autism is characterized by family loading for a number of specific behavioral and psychiatric disorders and that the sib recurrence risk is around 4%. The purpose of this study is to determine whether children with Joubert and their families show behavioral or genetic characteristics similar to autism. Thirty-one volunteer Joubert families were identified. Parents completed a semi-structured family history interview and the Autism Behavioral Checklist. Rates of family loading for neuropsychiatric disorders in the JS families were compared to autism family history data and Down syndrome (DS) controls. The JS families had significantly lower rates of autism, alcoholism, cognitive, and language disorders than the autism families. Their rate of depression was lower, but not significantly different from that found in autism families. None of the JS children met the clinical cut-off for autism based on parental symptom report and the sib recurrence risk was 32% for the JS families compared to 4% for the autism and 0% for DS families. These data indicate that JS is a genetically distinct disorder from autism. Different genes with different inheritance patterns that affect neurodevelopment of the cerebellum could explain the clinical similarities previously reported in JS and autism.

Abnormalities, Multiple↗

PubMed2000

Autism in Down's syndrome: a family history study.

Several recent reports have described the occurrence of autism in subjects with Down's syndrome (DS). However, relatively little is known about the family history of these subjects, especially with reference to autism. In order to address this issue, the present author examined 11 subjects with DS and autism (DSM-III-R; nine males), and compared them with seven controls with DS but without autism (DSM-III-R; three males). Details about family psychiatric history were obtained from both groups with an emphasis on autism and related disorders. Subjects with both DS and autism had an excess of first-degree relatives who met the description of the broader phenotype of autism. Seven (64%) of the subjects with autism had an affected parent as against one (14%) of the control group. Similarly, four out of 11 siblings (36%) in the DS with autism group showed features suggestive of the broader autistic phenotype compared to none in the control group. These findings suggest that, at least in some cases, autism-specific genetic factors may be important even when autism occurs in the presence of known medical conditions. Further studies of the mechanism of comorbidity of autism with medical conditions may help clarify the aetiology of the disorder.

Adolescent↗

PubMed2006

Characteristics of school-age children with autism.

The objectives of this study were to provide a national profile of children with autism, to describe the impact of autism on school functioning, and to describe the utilization of services among children with autism. We performed a cross-sectional descriptive analysis of 9583 children (grades K-8) from the 2001 National Household Education Survey Before and After School Survey. We used parent-reported information to determine the prevalence of autism, and children with autism were compared to children without autism on sociodemographic measures and several measures of school functioning and utilization of services. The prevalence of autism in this sample was 66 per 10,000. Children with autism were proportionately represented in all communities and all regions of the country. While children with autism were equally likely to attend public schools compared to children without autism, they were significantly more likely to have learning difficulties and to carry multiple diagnoses, including attention deficit disorder and learning disability. Most of these children received services for their disability through the school district. In conclusion, data from this survey yielded a prevalence estimate of autism similar to other recent studies. Children with autism have performance and behavior problems that persist despite the availability of services to the majority of children. The important needs of these children warrant further attention.

Attention Deficit Disorder with Hyperactivity↗

PubMed2006

5-HTTLPR Genotype-Specific Phenotype in Children and Adolescents With Autism.

OBJECTIVE: The serotonin transporter gene (SLC6A4) is a strong autism candidate gene because of its association with anxiety, aggression and attention, and the effectiveness of selective serotonin reuptake inhibitors (SSRIs) in treating certain behavioral symptoms. In families with individuals with autism, several reports of biased transmission of both alleles (short, long) at the serotonin transporter gene promotor polymorphism (5-HTTLPR) locus of SLC6A4 now exist. The heterogeneity in these reports may be due to clinical heterogeneity. The authors hypothesized that 5-HTTLPR genotypes would be related to variation in specific symptoms in children with autism. METHOD: The authors explored whether variants of two functional polymorphisms of SLC6A4 (5-HTTLPR, intron 2 variable number tandem repeat [2 VNTR]) were related to behavioral characteristics measured by the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Subjects (N=73, age 3-19 years old) met diagnostic criteria for autistic disorder based on both measures. RESULTS: Evidence of genotype-phenotype interactions on the Autism Diagnostic Interview-Revised was found with the 5-HTTLPR short group of HTTLPR (S/L or S/S genotypes) being rated as more severe on the subdomain "failure to use nonverbal communication to regulate social interaction," and the long group (L/L genotype) being more severe on the subdomain "stereotyped and repetitive motor mannerisms" and on an aggression measure. In contrast, on the Autism Diagnostic Observation Schedule, the long group was associated with greater severity on directed facial expressions and unusual sensory interests. There were no significant relationships between the intron 2 VNTR genotypes and subdomains or domains of symptoms on the Autism Diagnostic Interview-Revised or the Autism Diagnostic Observation Schedule. CONCLUSIONS: These findings provide initial support for genotype-specific phenotypes for 5-HTTLPR in autism based on ratings from the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule.

Adolescent↗

PubMed1996

Psychological markers in the detection of autism in infancy in a large population.

BACKGROUND: Investigation to see if there are key psychological risk indicators for autism in a random population study of children at 18 months of age; and to assess how well these discriminate children who receive a diagnosis of autism from other forms of developmental delay. METHOD: Sixteen thousand children in the southeast of England were screened for autism by their health visitor or GP, during their routine 18-month-old developmental check-up, using the CHAT (Checklist for Autism in Toddlers). From a previous high-risk study we predicted that children at 18 months of age who failed three items ('protodeclarative pointing', 'gaze-monitoring', and 'pretend play') would be at risk for receiving a diagnosis of autism. From other evidence, we further predicted that those 18-month-olds who failed one or two of the key items (either pretend play, or protodeclarative pointing and pretend play) would be at risk for developmental delay without autism. RESULTS: Twelve children out of the total population of 16,000 consistently failed the three key items. Of these, 10 (83.3%) received a diagnosis of autism. Thus, the false positive rate was 16.6% (2 out of 12 cases), and even these 2 cases were not normal. When the 10 children with autism were reassessed at 3.5 years of age, their diagnosis remained the same. Thus the false positive rate among the cases diagnosed with autism was zero. In contrast, of 22 children who consistently failed either protodeclarative pointing and/or pretend play, none received a diagnosis of autism, but 15 (68.2%) received a diagnosis of language delay. CONCLUSIONS: Consistent failure of the three key items from the CHAT at 18 months of age carries an 83.3% risk of autism; and this pattern of risk indicator is specific to autism when compared to other forms of developmental delay.

Autistic Disorder↗