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Results for “Autism Spectrum Disorder”

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PubMed2005

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.

In this study, we assessed the presence of autism spectrum disorders (ASD) among children with a confirmed 22q11.2 deletion (n = 98). The children's caregivers completed screening measures of ASD behaviors, and for those whose scores indicated significant levels of these behaviors, a standardized diagnostic interview (Autism Diagnostic Interview-Revised; ADI-R) was administered. Results demonstrated that over 20% of children (n = 22) were exhibiting significant levels of autism spectrum symptoms based on the screening measures. Based upon the ADI-R, 14 children qualified for a diagnosis of an ASD, and for 11 of those children a diagnosis of autism was most appropriate. These findings increase our knowledge of developmental disorders associated with the 22q11.2 deletion and point to avenues for future investigation.

Adaptation, Psychological↗

PubMed2006

Social and communication abilities and disabilities in higher functioning individuals with autism spectrum disorders: the Vineland and the ADOS.

The relationship between adaptive functioning (ability) and autism symptomatology (disability) remains unclear, especially for higher functioning individuals with autism spectrum disorder (ASD). This study investigates ability and disability using the Vineland and Autism Diagnostic Observation Schedule (ADOS), respectively, in two clinical samples of children with ASD. Participants included 187 males with VIQ > 70. Vineland scores were substantially below VIQ, highlighting the magnitude of adaptive impairments despite cognitive potential. A weak relationship was found between ability and disability. Negative relationships were found between age and Vineland scores and no relationships were found between age and ADOS scores. Positive relationships were found between IQ and Vineland Communication. Results stress the need for longitudinal studies on ability and disability in ASD and emphasize the importance of adaptive skills intervention.

Adolescent↗

PubMed2003

Measuring early language development in preschool children with autism spectrum disorder using the MacArthur Communicative Development Inventory (Infant Form).

Parent report data on early language development measured using the MacArthur Communicative Development Inventory (CDI-Infant Form) was collected on 134 preschool children with autism spectrum disorder. The pattern of development of understanding of phrases, word comprehension and expression, and production of gestures, was compared to the typical pattern. In common with typical development there was considerable variability in language acquisition, although for the group as a whole this was significantly delayed compared to the normal course. In addition, atypical patterns were identified in the emergence of language skills in the sample. Comprehension of words was delayed in comparison to word production, and production of early gestures (involving sharing reference) was delayed relative to production of later gestures (involving use of objects). However, other aspects of language development were similar to that found in typically developing infants, including word comprehension being in advance of word production in absolute terms, gesture production acting as a 'bridge' between word comprehension and word production and the broad pattern of acquisition across word categories and word forms. The implications for assessment and intervention with preschool children with autism spectrum disorder are discussed.

Age Factors↗

PubMed2006

Neurobiological effects of intraventricular propionic acid in rats: possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders.

Clinical observations suggest that certain gut and dietary factors may transiently worsen symptoms in autism spectrum disorders (ASD), epilepsy and some inheritable metabolic disorders. Propionic acid (PPA) is a short chain fatty acid and an important intermediate of cellular metabolism. PPA is also a by-product of a subpopulation of human gut enterobacteria and is a common food preservative. We examined the behavioural, electrophysiological, neuropathological, and biochemical effects of treatment with PPA and related compounds in adult rats. Intraventricular infusions of PPA produced reversible repetitive dystonic behaviours, hyperactivity, turning behaviour, retropulsion, caudate spiking, and the progressive development of limbic kindled seizures, suggesting that this compound has central effects. Biochemical analyses of brain homogenates from PPA treated rats showed an increase in oxidative stress markers (e.g., lipid peroxidation and protein carbonylation) and glutathione S-transferase activity coupled with a decrease in glutathione and glutathione peroxidase activity. Neurohistological examinations of hippocampus and adjacent white matter (external capsule) of PPA treated rats revealed increased reactive astrogliosis (GFAP immunoreactivity) and activated microglia (CD68 immunoreactivity) suggestive of a neuroinflammatory process. This was coupled with a lack of cytotoxicity (cell counts, cleaved caspase 3' immunoreactivity), and an increase in phosphorylated CREB immunoreactivity. We propose that some types of autism may be partial forms of genetically inherited or acquired disorders involving altered PPA metabolism. Thus, intraventricular administration of PPA in rats may provide a means to model some aspects of human ASD in rats.

Animals↗

PubMed2005

Access and service use by children with autism spectrum disorders in Medicaid Managed Care.

Although Medicaid is the largest public payer of behavioral health services, information on access and utilization of services is lacking, and no data on the frequency of service use or types of services provided for children with autism spectrum disorders (ASDs) are available. As states move toward managed care approaches for their Medicaid program, services information is critical. Behavioral health service data for children with autism spectrum disorders were collected from a state Medicaid Managed Care (MMC) program and analyzed from fiscal years 1995 through 2000. Findings revealed that the number of children who received services over time increased significantly; however, the rate of service use was only one tenth of what should be expected based on prevalence rates. The mean number of service days provided per child decreased significantly, about 40%, and the most prevalent forms of treatment changed. Day treatment vanished and medication and case management increased disproportionately to the number of children served. Explanations and implications of the findings are presented as well as recommendations for future research.

Autistic Disorder↗

PubMed2026

Recognizing genetic association between Lhermitte-Duclos Disease and Autism Spectrum Disorder in PTEN-related patients: a case report and literature comprehension.

BACKGROUND: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare autosomal dominant disorder that increases the risk of various tumors and systemic malignancies, including Lhermitte-Duclos disease (LDD), known as dysplastic cerebellar gangliocytoma. Both conditions result from a PTEN gene mutation, which disrupts cellular growth and proliferation. Some children with such a mutation exhibit developmental delay or autism spectrum disorder (ASD), associated with PHTS. Herein, we report on a mother with LDD/PHTS and her child with ASD, discuss screening, genetic counseling, and management of PHTS-affected, PTEN-related, family-connected patients, and provide a narrative literature review. METHODS: Clinical and diagnostic evaluation and genetic analysis were performed on a female patient with LDD/PHTS and on her 14-year-old daughter, diagnosed with ASD. Genomic DNA was extracted from the peripheral blood of both, using a commercial DNA isolation kit to detect a PTEN mutation. RESULTS: Ten-year follow-up of the LDD/PHTS patient showed no evidence of tumor recurrence after partial tumor resection, resulting in full neurological recovery. Genetic testing of both the mother and her child confirmed the same genetic variant-PTEN c.370 T > C p.(Cys124Arg), NM_000314.8, in heterozygous status-classified as pathogenic for PHTS. CONCLUSIONS: This paper highlights the importance of timely diagnosis of PHTS in an ASD-affected child after identifying a parent with LDD/PHTS, a disorder with significant implications linked to a PTEN mutation. Given the risk of malignancy and neurodevelopmental disorders associated with PTEN mutation, patients suspected of having LDD/PHTS and children with ASD should undergo regular screening for PTEN-related diseases and receive appropriate genetic counseling.

Humans↗

PubMed2004

Evidence for sex-specific risk alleles in autism spectrum disorder.

We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan is subdivided on the basis of the sex of affected children. This produces a significant excess in the total number of linkage peaks (P=1.3 x 10(-8)) and identifies a major male-specific linkage peak at chromosome 17q11 (P<.01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases.

Alleles↗

PubMed2005

MMPI-2 personality profiles of high-functioning adults with autism spectrum disorders.

The Minnesota Multiphasic Personality Inventory-Second Edition was administered to 20 adults with autism spectrum disorders (ASD) who fell in the average to above average range of intelligence and 24 age-, intelligence-, and gender-matched college students. Large group differences, with the ASD group scoring higher, were found on the L validity scale, Clinical Scales 2 (D) and 0 (Si), Content scale Social Discomfort (SOD), Supplementary scale Repression (R), and Personality Psychopathology Five (PSY-5) scale INTR (Introversion). The proportion of ASD adults scoring in the clinical range on these scales was between 25% and 35%. High scores on these scales are consistent with the clinical picture of Asperger syndrome and high-functioning autism in adulthood. Future directions and implications for identifying adults in need of a specialized autism assessment are discussed.

Adolescent↗

PubMed2006

The weak coherence account: detail-focused cognitive style in autism spectrum disorders.

"Weak central coherence" refers to the detail-focused processing style proposed to characterise autism spectrum disorders (ASD). The original suggestion of a core deficit in central processing resulting in failure to extract global form/meaning, has been challenged in three ways. First, it may represent an outcome of superiority in local processing. Second, it may be a processing bias, rather than deficit. Third, weak coherence may occur alongside, rather than explain, deficits in social cognition. A review of over 50 empirical studies of coherence suggests robust findings of local bias in ASD, with mixed findings regarding weak global processing. Local bias appears not to be a mere side-effect of executive dysfunction, and may be independent of theory of mind deficits. Possible computational and neural models are discussed.

Autistic Disorder↗

PubMed2007

Inhibitory control in children with autism spectrum disorder.

Impairments in executive abilities such as cognitive flexibility have been identified in individuals with autism spectrum disorder (ASD). It remains unclear, however, whether such individuals also experience impairments in another executive ability: inhibitory control. In the present study, we administered three inhibitory tasks to 18 children with ASD, 23 siblings of children with ASD, and 25 typically developing children. After controlling for individual differences in age, overall IQ, and processing speed, children with ASD demonstrated impaired performance on two of the three inhibitory tasks. Results suggest that children with ASD experience circumscribed deficits in some but not all aspects of inhibitory control. More generally, the findings underscore the importance of using multiple measures to assess a putative single cognitive ability.

Adolescent↗

PubMed2006

Developmental dyspraxia is not limited to imitation in children with autism spectrum disorders.

Impaired imitation of skilled gestures is commonly reported in autism. Questions, however, remain as to whether impaired imitation is associated with a more generalized deficit in performance of gestures consistent with a dyspraxia and whether the pattern of errors differs from that observed in typically developing children. To address these questions, praxis in 21 high-functioning children with autism spectrum disorders (ASD) was compared with 24 typically developing controls using a traditional approach in which performance was evaluated through detailed examination of error types. Children with ASD produced significantly fewer correct responses not only during Gesture to Imitation, but also during Gesture to Command and with Tool Use. The pattern of errors in ASD was similar to that of controls with spatial errors being most common in both groups; however, body-part-for-tool errors were more common in children with ASD, suggesting dyspraxia is not entirely attributable to motor deficits. The findings suggest that autism is associated with a generalized praxis deficit, rather than a deficit specific to imitation. In a developmental disorder such as autism, the findings may reflect abnormalities in frontal/parietal-subcortical circuits important for acquisition (i.e., learning) of sensory representations of movement and/or the motor sequence programs necessary to execute them.

Apraxias↗

PubMedDate not supplied

Neurocognitive function and joint attention ability in young children with autism spectrum disorder versus developmental delay.

Studies have shown that young children with autism are not impaired on prefrontal tasks relative to what would be expected for their mental age, raising questions about the executive dysfunction hypothesis of autism. These studies did not include ventromedial prefrontal tasks, however. The present study examined whether young children with autism spectrum disorder (ASD) are impaired on ventromedial prefrontal tasks, and whether performance on such tasks is correlated with a core autism symptom, joint attention ability. Seventy-two 3- to 4-year-old children with ASD, 34 3- to 4-year-old developmentally delayed children, and 39 12- to 46-month-old typically developing children, matched on mental age, were administered ventromedial and dorsolateral prefrontal tasks and joint attention tasks. Children with ASD performed similarly to comparison groups on all executive function tasks, indicating that at this early age, there is no autism-specific pattern of executive dysfunction. Ventromedial, but not dorsolateral, prefrontal task performance was strongly correlated with joint attention ability, however. The ventromedial prefrontal cortex is hypothesized to play a role in the development of joint attention and possibly some aspects of the autistic syndrome.

Attention↗

PubMed2006

What services do young children with autism spectrum disorder receive?

BACKGROUND: In recent years, standards of good practice have been set for services to young children with autism spectrum disorders. METHODS: Data were analysed on children's use of local services during a 2-year follow-up of families involved in an evaluation of a group course for parents. Data collection began prior to publication of the standards. RESULTS: Families' reported experiences changed over time, but for most did not meet standards suggested: involvement with a multi-agency team of professionals, having someone who acted as a key worker, and the child accessing 15 h per week of specialist provision. CONCLUSION: The development of flexible and responsive services appears to have a long way to go to meet standards set in the Autistic Spectrum Disorders Good Practice Guidance (2002) and the National Autism Plan for Children (2003).

Autistic Disorder↗

PubMed2005

Abnormal activation of face processing systems at early and intermediate latency in individuals with autism spectrum disorder: a magnetoencephalographic study.

The neurological basis of developmental psychopathology in autism is a matter of intense debate. Magnetoencephalography (MEG) was used to study the neuronal responses associated with the processing of faces in 12 able adults with autism spectrum disorders (ASD), performing image categorization and image identification tasks. The neuromagnetic data were analysed using nonparametric time-series analysis and equivalent current dipole estimation. Comparison data were obtained from 22 normally developing adults. In individuals with ASD, the neural responses to images of faces, observed in right extrastriate cortices at approximately 145 ms after stimulus onset, were significantly weaker, less lateralized and less affected by stimulus repetition than in control subjects. Early latency (30-60 ms) responses to face images, over right anterior temporal regions, differed significantly between the two subject groups in the image identification task. No such difference was observed for images of mugs or meaningless geometrical patterns. These findings suggest that, during the course of development in individuals with ASD, the cortical activity associated with the processing of human faces assumes a different-from-normal localization in extrastriate brain regions. This abnormal localization may be associated with unusual, but nevertheless face-specific, fast processing pathways.

Adult↗

PubMed2002

Cognitive profiles and social-communicative functioning in children with autism spectrum disorder.

BACKGROUND: Whether there is an unusual degree of unevenness in the cognitive abilities of children with autism spectrum disorder (ASD) and whether different cognitive profiles among children with ASD might index etiologically significant subgroups are questions of continued debate in autism research. METHOD: The Differential Ability Scales (DAS) and the Autism Diagnostic Observation Schedule (ADOS) were used to examine profiles of verbal and nonverbal abilities and their relationship to autistic symptomatology in 120 relatively high-functioning children with ADI-confirmed diagnoses of autism. RESULTS: Discrepancies between verbal and nonverbal ability scores occurred at a significantly higher rate than in the DAS normative sample (30%) in both a younger group of 73 children (56%) with a mean age of 5;5 and an older group of 47 children (62%) with a mean age of 8;11. Discrepancies were mainly in favor of nonverbal ability in the younger group, but occurred equally in favor of verbal and nonverbal abilities in the older group. Comparison of the two age groups suggested a growing dissociation between verbal and nonverbal (and particularly visual processing) skills with age. In the older group, children with discrepantly higher nonverbal abilities demonstrated significantly greater impairment in social functioning, as measured on the ADOS, independent of absolute level of verbal and overall ability. CONCLUSIONS: These findings demonstrate a high rate of uneven cognitive development in children with ASD. Indications of a dissociation between verbal and visual-perceptual skills among the older children, and the specific association of discrepantly high nonverbal skills with increased social symptoms suggest that the nonverbal > verbal profile may index an etiologically significant subtype of autism.

Adolescent↗

PubMed2006

Corpus callosum morphometrics in young children with autism spectrum disorder.

This study assessed midsagittal corpus callosum cross sectional areas in 3-4 year olds with autism spectrum disorder (ASD) compared to typically developing (TD) and developmentally delayed (DD) children. Though not different in absolute size compared to TD, ASD callosums were disproportionately small adjusted for increased ASD cerebral volume. ASD clinical subgroup analysis revealed greater proportional callosum reduction in the more severely affected autistic disorder (AD) than in pervasive developmental disorder-not otherwise specified (PDD-NOS) children. DD children had smaller absolute callosums than ASD and TD. Subregion analysis revealed widely distributed callosum differences between ASD and TD children. Results could reflect decreased inter-hemispheric connectivity or cerebral enlargement due to increase in tissues less represented in the corpus callosum in ASD.

Analysis of Variance↗

PubMed2006

Social skills development in children with autism spectrum disorders: a review of the intervention research.

Social reciprocity deficits are a core feature of the autism spectrum disorders (ASD). This review summarizes the state of research in group-based social skills training programs for school-age children and adolescents with ASD. All published studies of group social skills interventions between 1985 and 2006 were reviewed, as well as dissertations examining group-based social skills intervention programs. To assess the state of the science, a template developed by an NIMH work group was applied to 14 identified studies. Based on this review, the empirical support for this approach is incomplete, but promising intervention strategies were identified. Recommendations for the design of future treatment trials to guide clinical practice are offered.

Adolescent↗

PubMed2004

Obsessive-compulsive symptoms in parents of Tourette syndrome probands and autism spectrum disorder probands.

Obsessive-compulsive symptoms (OCS) frequently occur in patients with Tourette syndrome (TS) and autism spectrum disorders (ASD). It has been suggested that genetic factors play a role in the transmission of both TS and ASD and that obsessive-compulsive disorder (OCD) may have some genetic relationship with these disorders. The objective of this study was to explore whether the OCS associated with TS and ASD were found in the parents of TS and ASD probands by comparing them with normal controls. The subjects were parents of 13 TS and 16 ASD probands. All parents underwent an examination for tic symptoms and OCD, and completed the Maudsley Obsessional Compulsive Inventory (MOCI) and State-Trait Anxiety Inventory (STAI). No significant differences were observed in the MOCI and STAI scores among all three groups. However, the MOCI total score was higher in fathers of ASD probands than in male normal controls with a marginal significance. There was a significant tendency for the mean cleaning score of MOCI in fathers of ASD probands to be higher than that in male normal controls, and the mean checking score in fathers of ASD probands was fourfold higher than that in male normal controls, although there was no significant difference. No significant relationship was observed between OCS in TS or ASD probands and OCS of their parents. Further studies on OCD and OCS including a dimensional approach within ASD families are needed.

Adult↗