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Results for “Autism Spectrum Disorder”

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PubMed2000

A screening instrument for autism at 18 months of age: a 6-year follow-up study.

OBJECTIVES: A population of 16,235 children aged 18 months was screened using the Checklist for Autism in Toddlers (CHAT) to identify childhood autism (CA). Two further screening procedures were conducted at age 3 and 5 years. The population was followed up at age 7 years in order to establish the sensitivity, specificity, and positive predictive value of the instrument. METHOD: A brief checklist assessing joint attention and pretend play behaviors was administered by primary health care practitioners when the children were 18 months old. Follow-up methods included screening through parents and health practitioners and checking medical and educational records. RESULTS: Nineteen cases of CA were successfully identified by the CHAT at 18 months. At follow-up a total of 50 cases of CA were identified via all surveillance methods. Thus, the CHAT has a sensitivity of 38% and a specificity of 98% for identifying CA. The positive predictive value of the instrument was maximized by concentration on the highest-risk group. Repeated screening 1 month later increased the positive predictive value to 75% for identification of CA but reduced the sensitivity to 20%, although the specificity was close to 100%. The screen also identified cases of pervasive developmental disorder as well as children with language and other developmental disorders. CONCLUSIONS: The CHAT can be used to identify cases of autism and related pervasive developmental disorders at 18 months of age. It is emphasized that the CHAT is not a diagnostic instrument but can identify potential cases of autism spectrum disorders for a full diagnostic assessment.

Autistic Disorder↗

PubMed2005

Continuity and change from early childhood to adolescence in autism.

BACKGROUND: This longitudinal study of 48 children diagnosed with autism at 2-5 years of age was designed to test the hypothesis that diagnosis would remain stable for most of the sample but that there would be improvements in symptom severity, adaptive behavior, and emotional responsiveness in adolescence. METHODS: A sample of children with autism assessed in both early and middle childhood were observed in late adolescence with the Autism Diagnostic Observation Scale (ADOS) and their parents were administered the Autism Diagnostic Interview-Revised (ADI-R) and the Vineland Adaptive Behavior Scale. RESULTS: All but 2 adolescents (46 of 48) met lifetime criteria for autism according to the ADI-R, and all but 4 adolescents (40 of 44) met criteria for autism spectrum disorder on the ADOS. In contrast to the continuity in diagnosis, parents described improvements in social interactions, repetitive/stereotyped behaviors, adaptive behaviors, and emotional responsiveness to others' distress in adolescence compared to middle childhood. High-functioning adolescents with autism showed more improvement in these domains than low-functioning adolescents with autism. The extent to which the adolescents were observed to be socially engaged with their peers in school in middle childhood predicted adaptive behavior skills even when intelligence level was statistically constrained. CONCLUSIONS: The developmental trajectory of children with autism appears to show both continuity and change. In this sample, most individuals continued to be diagnosed in the autism spectrum but parents reported improvements in adolescence. The results suggest that social involvement with peers improves adaptive behavior skills, and this argues for focusing intervention programs in this area. In addition, it is clear that high-functioning adolescents improve more than low-functioning individuals not only in cognitive abilities but also in social interaction skills. Thus, any early intervention that impacts the cognitive abilities of young children with autism is likely to have a parallel influence on their social skills as they mature into late adolescence and early adulthood.

Adaptation, Psychological↗

PubMedDate not supplied

Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomized controlled trials.

In 1998, Horvath et al. [Horvath, K., Stefanatos, G., Sokolski, K. N., Wachtel, R., Nabors, L., & Tildon, J. T. (1998). Improved social and language skills after secretin administration in patients with autism spectrum disorders. Journal of the Association of the Academy of Minority Physicians, 9, 9-15] reported an uncontrolled trial of secretin with three participants with autism, which apparently resulted in significant behavioral improvement. Subsequently, secretin was widely used. Sandler et al. [Sandler, A. D., Sutton, K. A., SeWeese, J., Girardi, M. A., Sheppard, V., & Bodfish, J. W. (1999). Lack of benefit of a single dose of synthetic human secretin in the treatment of autism and pervasive and developmental disorder. The New England Journal of Medicine, 341, 1801-1806] reported the first double-blind trial of secretin with negative results. This article is a review of 15 double-blind trials of secretin. Almost none of the studies reported any significant effects and none concluded that secretin was effective. Transient effects of secretin, including both minor benefits and behavioral deterioration were reported, probably due to multiple statistical tests. Four papers reported data on differential responding in sub-groups of participants, including those with gastrointestinal symptoms. These effects were not replicable. At this time there is no robust evidence that secretin is an effective treatment for pervasive developmental disorders.

Adolescent↗

PubMed2026

Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.

BACKGROUND: A growing number of identified genes increasingly reveal genetic overlaps between neurodevelopmental disorders and combined dystonia syndromes. CASE REPORT: We report a 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral palsy for 40 years. Whole-exome sequencing identified a novel heterozygous pathogenic frameshift variant in TBL1XR1. DISCUSSION: TBL1XR1 variants are classically associated with Pierpont syndrome and autism spectrum disorder. Although movement disorders have been reported, this case suggests generalized dystonia as a possible additional manifestation. It highlights the value of retrospective genetic phenotyping and next-generation sequencing in adults with long-standing neurodevelopmental diagnoses.

Humans↗

PubMed2025

Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migration.

Mutations in lipid regulator genes are a frequent cause of autism spectrum disorder, including those regulating phosphatidylinositol (PI) and phosphoinositide 3-kinase signaling. MBOAT7 encodes a key acyltransferase in PI synthesis and is mutated in an autism-related condition with neurodevelopmental delay and epilepsy. Using liquid chromatography-tandem mass spectrometry, we analyzed the PI-associated glycerolipidome in mice and humans during neurodevelopment and found dynamic regulation at times corresponding to neural apoptosis in the brains of Mboat7 knockout mice. Mboat7 function was necessary for polyunsaturated lipid synthesis and cortical neural migration, and loss resulted in massive accumulation of the precursor lysophosphatidylinositol and hyperactive mTOR signaling. Inhibiting mTOR signaling rescued migration defects. Our findings demonstrate roles for lipid remodeling during neurodevelopment and implicate lipid regulation in neuronal migration, revealing potential paths to treatment for MBOAT7 deficiency.

Animals↗

PubMed2007

Autism in the Faroe Islands: an epidemiological study.

The Faroe Islands are considered to be a genetic isolate. This population study of the prevalence of autism sought to identify a representative cohort for future genetic studies. In 2002 all schools were screened for autism spectrum disorders. The target population were all children born in 1985 through 1994 and living in the Faroe Islands on December 31, 2002. Children who screened positive for autism characteristics were examined using the Diagnostic Interview for Social and Communication Disorders (DISCO). Of the children aged 8 through 17 years, 0.56% had childhood autism, Asperger syndrome or atypical autism. The male:female ratio was just under 6:1. The prevalence of autism in the Faroe Islands was very similar to that reported from many western countries.

Adolescent↗

PubMed2004

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

Rearrangements of chromosome 15q, including isodicentric 15 chromosomes and interstitial duplications and triplications, have been previously reported in association with autism spectrum disorders. We have identified two boys with exceptionally large der(15) chromosomes that are tricentric and contain four copies of the proximal long arm, including the Prader Willi/Angelman critical region, and leading to hexasomy of the involved segment. Biallelic inheritance of maternal alleles and methylation analysis indicate that the markers are maternally derived. Clinical assessment of the boys indicated severe cognitive impairment associated with marked delays in gross and fine motor skills. Social and language deficits were present in both, although the severity of the mental retardation precluded diagnosis of autism (both were considered to have pervasive developmental disorder-not otherwise specified). Neurologic manifestations included infantile spasms evolving into intractable early-onset myoclonic seizures, psychomotor regression, and profound diffuse hypotonia. These patients represent the most severe end of the spectrum of phenotypes associated with segmental aneuploidy for chromosome 15q11-q13.

Abnormalities, Multiple↗

PubMed2005

Sleep disorders, immunizations, sports injuries, autism.

PURPOSE OF REVIEW: The purpose of this article is to summarize and synthesize the recent literature in four very important areas for pediatric office practice: sleep disorders, new immunizations, sports injuries, and autism. Important articles in each area are highlighted. RECENT FINDINGS: The management of pediatric and adolescent sleep disorders is in the forefront of the pediatric literature. The most recent literature cautions practitioners on prescribing pharmacologic treatment for sleep problems in children and adolescents. Several new immunizations targeted for adolescents are on the horizon. The newest recommendations for their delivery are outlined here. Recent sports injury literature emphasizes the need of the practitioner to address sports injury prevention and to provide anticipatory guidance at pediatric office visits. Finally, the past year's literature demonstrates that there is significant interest in autism spectrum disorders, but the clinicians' challenge for making the correct diagnosis of these disorders remains. SUMMARY: The literature presented and summarized here will give the practicing pediatrician practical working knowledge of four important office-based pediatric topics: sleep disorders, new immunizations, sports injuries, and autism.

Athletic Injuries↗

PubMed2003

Cognition in autism: one deficit or many?

The aim of this paper is to provoke discussion concerning the nature of the cognitive impairments that characterize autism. Autism spectrum disorders appear to be heterogeneous at the biological and behavioural levels, but it is currently unclear whether one or more cognitive abnormalities may be universal to people with autism. In addition, it is unknown whether one cognitive deficit is primary and causal, or whether several complimentary accounts are needed to explain the full range of behavioural features. From research to date, it seems that the psychological abnormalities that characterize autism may be dissociable, and it is uncertain whether the degree of social and non-social impairments is related. Possible reasons for the co-occurrence of social and non-social cognitive abnormalities in autism are discussed. One implication is that searching for the biological bases of specific social and non-social deficits may be more profitable than searching for the aetiology of autism per se.

Autistic Disorder↗

PubMed2006

A prospective assessment of porphyrins in autistic disorders: a potential marker for heavy metal exposure.

Autism was recently associated with a urinary porphyrin pattern indicative of mercury toxicity in a large cohort of French children. The IRB of the Institute for Chronic Illnesses approved the present study. A total of 37 consecutive American patients (> or = 7 years-old) with autism spectrum disorders (ASDs) (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition-DSM IV), born from 1983-1998, that presented to the Genetic Centers of America for outpatient genetic evaluations were prospectively examined for urinary prophryin levels (LabCorp, Inc.) from June 2005-June 2006. Imaging and laboratory testing were conducted on each patient to rule-out other causal factors for their ASDs. As controls, age-, sex-, and race-matched neurotypical ASD siblings were examined. An apparent dose-response effect was observed between autism severity and increased urinary coproporphyrins. Patients with non-chelated autism (2.25-fold, 83% had levels > 2 SD above the control mean) and non-chelated ASDs (2-fold, 58% had levels > 2 SD above the control mean), but not patients with non-chelated pervasive developmental delay-not otherwise specified (PDD-NOS) or Asperger's disorder (1.4-fold, 46% had levels > 2 SD above the control mean), had significantly increased median coproporphyrin levels versus controls. A significant increase (1.7-fold) in median coproporphyrin levels was observed among non-chelated ASD patients versus chelated ASD patients. Porphyrins should be routinely clinically measured in ASDs, and potential ASD treatments should consider monitoring porphyrin levels. Additional research should be conducted to evaluate the potential role for mercury exposure in some ASDs.

Adolescent↗

PubMed2004

Autoantibody repertoires to brain tissue in autism nuclear families.

The hypothesis of an immune dysfunction in autism spectrum disorders has previously been put forward without, however, compelling evidence of a direct relation to its etiology or pathogenesis. To further understand if autoimmunity could play a significant role in autism, we analyzed autoantibody repertoires to brain tissue extract in the plasma of 171 autism children, their parents, and 54 controls, by quantitative immunoblotting. Multiparametric analysis revealed significant differences between patients and controls, and showed that one single reactivity in Section 32 of the blot had the most power to discriminate between these samples. Family correlation coefficients and heritability estimates did not provide any evidence that this reactivity was genetically determined. While the molecular weight of the target protein suggested that it might be an isoform of Myelin Basic Protein (MBP), inhibition assays with human MBP argued against this hypothesis. The study evidences the widespread occurrence of autoreactivities to brain tissue in autism patients, which may represent the immune system's neuroprotective response to a previous brain injury occurred during neurodevelopment. The molecular identification of the target protein in Section 32 will contribute to the understanding of the role of immune responses against brain antigens in autistic patients.

Adolescent↗

PubMed2004

Outcome measures for clinical drug trials in autism.

This paper identifies instruments and measures that may be appropriate for randomized clinical trials in participants with autism spectrum disorders (ASDs). The Clinical Global Impressions scale was recommended for all randomized clinical trials. At this point, however, there is no "perfect" choice of outcome measure for core features of autism, although we will discuss five measures of potential utility. Several communication instruments are recommended, based in part on suitability across the age range. In trials where the intention is to alter core features of ASDs, adaptive behavior scales are also worthy of consideration. Several "behavior complexes" common to ASDs are identified, and instruments are recommended for assessment of these. Given the prevalence of cognitive impairment in ASDs, it is important to assess any cognitive effects, although cognitive data from ASD randomized clinical trials, thus far, are minimal. Guidance from trials in related pharmacologic areas and behavioral pharmacology may be helpful. We recommend routine elicitation of side effects, height and weight, vital signs, and (in the case of antipsychotics) extrapyramidal side-effects assessment. It is often appropriate to include laboratory tests and assessments for continence and sleep pattern.

Autistic Disorder↗

PubMed2005

Analysis of four neuroligin genes as candidates for autism.

Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with beta-neurexins and this interaction is involved in the formation of functional synapses. Mutations in two X-linked neuroligin genes, NLGN3 and NLGN4, have recently been implicated in pathogenesis of autism. The neuroligin gene family consists of five members (NLGN1 at 3q26, NLGN2 at 17p13, NLGN3 at Xq13, NLGN4 at Xp22, and NLGN4Y at Yq11), of which NLGN1 and NLGN3 are located within the best loci observed in our previous genome-wide scan for autism in the Finnish sample. Here, we report a detailed molecular genetic analysis of NLGN1, NLGN3, NLGN4, and NLNG4Y in the Finnish autism sample. Mutation analysis of 30 probands selected from families producing linkage evidence for Xq13 and/or 3q26 loci revealed several polymorphisms, but none of these seemed to be functional. Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at NLGN1 (rs1488545, P=0.002), NLGN3 (DXS7132, P=0.014), and NLGN4 (DXS996, P=0.031). We conclude that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism.

Autistic Disorder↗

PubMed2002

No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.

A recent study by Ingram et al. [2000b: Teratology 62:393-405] suggests a (His)73(Arg) polymorphism (A:G) in HOXA1 contributes substantially to a liability for autism. Using 68 individuals diagnosed with Autism Spectrum Disorders, they found a significant dearth of G homozygotes and biased transmission of G alleles from parents to affected offspring, especially from mothers. Because the connection between HOXA1 and liability to autism is compelling, we attempted to replicate their finding using a larger, independent sample from the Collaborative Programs of Excellence in Autism (CPEA) network. In our data, genotype frequencies conform to Hardy-Weinberg equilibrium; allele transmissions meet Mendelian expectations; and there is no obvious sex-biased allele transmission. Based on our sample size, calculations suggest that we would have at least 95% power to detect linkage and association even if the A:G polymorphism were to account for only 1% of the heritability of autism. Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism.

Asperger Syndrome↗

PubMed2006

[A review of the alert and psycholinguistic intervention model in attention deficit hyperactivity disorder].

INTRODUCTION: In every class in our schools, teachers are faced with one or two children with attention deficit hyperactivity disorder (ADHD), a neurobiological disorder with three main clinical axes: lack of attention, hyperactivity and impulsiveness. Generally speaking, these children develop poorer psycholinguistic skills, although over 50% of these problems remain undetected because they are concealed by the child's behaviour. Most of the children will see some kind of adverse effect on their academic performance, chiefly in areas concerning reading and writing. DEVELOPMENT: The language disorders in ADHD are mainly related to the areas of semantics and pragmatics and, to a lesser extent, to phonetic-phonological aspects. They are discernible from the earliest months of life, during the preverbal stage, which is the time when the infant's character is being shaped. In this case, our experience shows that the character can be classed as difficult or inflexible and explosive in 56.5% of children diagnosed with ADHD. Moreover, we know that many children with this disorder find it difficult to engage in play, and 30% of them have retarded language development. A rather undefined percentage of children can have similar problems to those of children with autism spectrum disorders, which makes the differential diagnosis even more complicated. CONCLUSIONS: The mixed model of intervention in ADHD includes language work within the context of cognitive-behavioural programmes and the development of narrative skills and social competencies through a literary creativity workshop. This study offers a review of the psycholinguistic problems affecting children with ADHD in the light of our own experience, together with other clinical evidence.

Attention Deficit Disorder with Hyperactivity↗

PubMed2006

Do people with autistic spectrum disorder show normal selection for attention? Evidence from change blindness.

People in the general population are typically very poor at detecting changes in pictures of complex scenes. The degree of this 'change blindness', however, varies with the content of the scene: when an object is semantically important or contextually inappropriate, people may be more effective at detecting changes. Two experiments investigated change blindness in people with autism, who are known from previous research to be efficient in detecting features yet poor at processing stimuli for meaning and context. The first experiment measured the effect of semantic information while the second investigated the role of context in directing attention. In each task, participants detected the dissimilarity between pairs of images. Both groups showed a main effect of image type in both experimental tasks, showing that their attention was directed to semantically meaningful and contextually inappropriate items. However, the autistic group also showed a greater difficulty detecting changes to semantically marginal items in the first experiment. Conclusions point to a normal selection of items for attention in people with autism spectrum disorders, although this may be combined with difficulty switching or disengaging attention.

Adolescent↗

PubMed2005

Repetitive behavior profiles in Asperger syndrome and high-functioning autism.

Although repetitive behaviors are a core diagnostic domain for autism spectrum disorders, research in this area has been neglected. This study had two major aims: (1) to provide a detailed characterization of repetitive behaviors in individuals with Asperger Syndrome (AS), high-functioning autism (HFA), and typically developing controls (TD); and (2) to examine whether differences in repetitive behavior profiles could provide evidence for the external validity of AS separate from HFA. Specifically, it was hypothesized that circumscribed interests would be more prevalent and cause more impairment in the AS group than the HFA group, while the reverse would be true for other categories of repetitive behavior. The parent(s) of 61 children and adolescents (19 with AS, 21 with HFA, and 21 TD) completed two interviews focused specifically on lifetime and current repetitive behavior symptoms. No reliable differences in repetitive behavior between AS and HFA children were found. Results suggested that circumscribed interests differ in developmental course from the three other DSM-IV-TR categories of repetitive behavior. Internal consistency among the four DSM-IV-TR categories of repetitive behavior was high, alpha = .84, providing evidence for a unitary repetitive behaviors factor. The importance of expanding research in the repetitive behavior domain is highlighted as part of the necessary integration of behavioral and neurobiological approaches to understanding the etiology of autism.

Adolescent↗

PubMed2006

The population prevalence of child psychiatric disorders in Danish 8- to 9-year-old children.

The overall prevalence rates of general and specific child psychiatric disorders in Danish children are unknown. In this study, which aimed to estimate prevalence rates, a multi-method strategy using a two-step design was employed. The first step involved assessment with the Child Behaviour Checklist (CBCL). The second step consisted of assessment using the Schedule for Affective Disorders and Schizophrenia for School-Aged Children; Present and Lifetime version (K-SADS-PL), The Children's Global Assessment Scale (C-GAS), The Wechsler Intelligence Scale for Children (WISCIII), The Autism Spectrum Disorder Screening Questionnaire (ASSQ), and a checklist containing the diagnostic criteria for Pervasive Developmental Disorders (PDD). Non-respondents were assessed through teachers using a modified brief version of the K-SADS-PL. A total of 751 children were targeted. The overall estimated prevalence rate of child psychopathology was 11.8 % [95% confidence interval (CI): 8.8, 14.8]. Attention Deficit/ Hyperactivity Disorder (ADHD) was found to be the most common specific child psychiatric disorder. There was no difference in prevalence rates between respondents and non-respondents. The estimated prevalence rates were broadly comparable to prevalence rates found in other epidemiological studies. The teacher-based interview proved to be a valid instrument for the assessment of non-respondents.

Catchment Area, Health↗