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ERP evidence of atypical face processing in young children with autism.

Autism involves a basic impairment in social cognition. This study investigated early stage face processing in young children with autism by examining the face-sensitive early negative event-related brain potential component in 3-4 year old children with autism spectrum disorder (ASD), typical development, and developmental delay. Results indicated that children with ASD showed a slower electrical brain response to faces and a larger amplitude response to objects compared to children with typical development and developmental delay. These findings indicate that children with ASD have a disordered pattern of brain responses to faces and objects at an early age.

Autistic Disorder↗

Designing research studies on psychosocial interventions in autism.

To address methodological challenges in research on psychosocial interventions for autism spectrum disorder (ASD), a model was developed for systematically validating and disseminating interventions in a sequence of steps. First, initial efficacy studies are conducted to establish interventions as promising. Next, promising interventions are assembled into a manual, which undergoes pilot-testing. Then, randomized clinical trials test efficacy under controlled conditions. Finally, effectiveness studies evaluate outcomes in community settings. Guidelines for research designs at each step are presented. Based on the model, current priorities in ASD research include (a) preparation for efficacy and effectiveness trials by developing manuals for interventions that have shown promise and (b) initial efficacy studies on interventions for core features of ASD such as social reciprocity.

Autistic Disorder↗

Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.

Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD.

Abnormalities, Multiple↗

Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome.

Research examining autistic symptoms in Angelman syndrome (AS) is limited. The goal of this study was to further characterize the nature of stereotyped behaviors, social interaction deficits, and developmental disturbances in individuals with AS. Parents of 248 individuals between the ages of 3 and 22 completed a survey of autistic symptomatology by mail, the Gilliam Autism Rating Scale. Results confirmed a high degree of developmental delay and limited expressive language skills. In terms of stereotyped behaviors and social interaction, areas of convergence and divergence between AS and behaviors typically associated with autism spectrum disorders are described. The relationship between child characteristics (age, gender, seizure disorder, genetic subtype) and autistic symptomatology are discussed.

Adolescent↗

Quantitative assessment of neuromotor function in adolescents with high functioning autism and Asperger Syndrome.

BACKGROUND: Motor impairment in children with Asperger Syndrome (AS) or High functioning autism (HFA) has been reported previously. This study presents results of a quantitative assessment of neuromotor skills in 14-22 year old HFA/AS. METHODS: 16 HFA/AS and 16 IQ-matched controls were assessed by the Zurich Neuromotor Assessment (ZNA). RESULTS: The HFA/AS group showed strongest impairments of dynamic balance skills and diadochokinesis. Motor abilities were associated with degree of social withdrawal in the full sample and severity of current autistic symptoms in the HFA/AS group. CONCLUSION: Similar motor patterns as in younger children were found in the older adolescents. The association of autistic symptoms with motor performance points towards an essential role of motor impairment in autism spectrum disorders.

Adolescent↗

Brief report: the impact of subcortical band heterotopia and associated complications on the neuropsychological functioning of a 13-year-old child.

Motor impairment in children with Asperger syndrome (AS) or high functioning autism (HFA) has been reported previously. This study presents results of a quantitative assessment of neuromotor skills in 14-22 year old HFA/AS. Sixteen HFA/AS and 16 IQ-matched controls were assessed by the Zurich Neuromotor Assessment (ZNA). The HFA/AS group showed strongest impairments of dynamic balance skills and diadochokinesis. Motor abilities were associated with degree of social withdrawal in the full sample and severity of current autistic symptoms in the HFA/AS group. Similar motor patterns as in younger children were found in the older adolescents. The association of autistic symptoms with motor performance points towards an essential role of motor impairment in autism spectrum disorders.

Adolescent↗

Brief report: individual social-multi-modal intervention for HFASD.

This research is the first part of a 2-year cognitive-behavioral-ecological (CB-E) social skills training for high-functioning children with autism spectrum disorder (HFASD). Current study examined efficacy of an individual CB-E intervention in facilitating children's dyadic interactions (immediately after treatment and 4 months later) and their social cognition capabilities (e.g., emotion understanding and recognition, social problem solving). Participants were 19 HFASD children aged 7 years and 7 months to 11 years and 6 months. Results demonstrated improvement in children's social cognition and positive dyadic interaction and decrease in children's low-level social interaction behavior. Long-term evaluation revealed maintenance of improvement. Progress in children's cooperation, self-control, and assertiveness was reported by their teachers. Discussion focused on CB-E intervention efficacy in promoting integral social functioning for HF children with ASD.

Asperger Syndrome↗

Brief report: group social-multimodal intervention for HFASD.

Current study is the second part of a 2-year cognitive-behavioral-ecological (CB-E) intervention for high-functioning (HF) children with autism spectrum disorder (ASD). We examined the utility of a group-centered intervention on children's ability to interact cooperatively with peers during structured and non-structured social situations. Direct (e.g., social problem solving) and indirect (theory of mind; executive function) treatment effects on social cognitive capabilities were also examined. Participants were 26 preadolescent HF children with ASD. Study results demonstrated direct and indirect treatment effects on social cognition and mixed results regarding children's social interaction capabilities. Although children's cooperative capabilities within the intervention group improved, dyadic, and group social interactions during school recess did not. Discussion focused on the utility of such group-intervention in increasing social functioning.

Asperger Syndrome↗

Clarifying the associations between language and social development in autism: a study of non-native phoneme recognition.

Autism spectrum disorders (ASDs) are characterized by correlated deficiencies in social and language development. This study explored a fundamental aspect of auditory information processing (AIP) that is dependent on social experience and critical to early language development: the ability to compartmentalize close-sounding speech sounds into singular phonemes. We examined this ability by assessing whether close-sounding non-native language phonemes were more likely to be perceived as disparate sounds by school-aged children with high-functioning ASD (n = 27), than by unaffected control subjects (n = 35). No significant group differences were observed. Although earlier in autistic development there may exist qualitative deficits in this specific aspect of AIP, they are not an enduring characteristic of verbal school-aged children with ASD.

Asperger Syndrome↗

The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity.

Autism Diagnostic Observation Schedule (ADOS) Modules 1-3 item and domain total distributions were reviewed for 1,630 assessments of children aged 14 months to 16 years with an autism spectrum disorder (ASD) or with heterogeneous non-spectrum disorders. Children were divided by language level and age to yield more homogeneous cells. Items were chosen that best differentiated between diagnoses and were arranged into domains on the basis of multi-factor item-response analysis. Reflecting recent research, the revised algorithm now consists of two new domains, Social Affect and Restricted, Repetitive Behaviors (RRB), combined to one score to which thresholds are applied, resulting in generally improved predictive value.

Adolescent↗

Stereotyped motor behaviors associated with autism in high-risk infants: a pilot videotape analysis of a sibling sample.

This study examined motor behaviors in a longitudinal cohort of infant siblings of children with autism. Stereotypic movements and postures occurring during standardized observational assessments at 12 and 18 months were coded from videotapes. Participants included eight infant siblings later diagnosed with autism spectrum disorder (ASD), a random sample of nine non-diagnosed siblings, and 15 controls. Videos were coded blind to diagnostic group. At 12 and 18 months the ASD group "arm waved" more frequently and at 18 months, one posture ("hands to ears") was more frequently observed in the ASD and non-diagnosed group compared to the controls. Overall, the siblings subsequently diagnosed with ASD and the comparison groups had considerable overlap in their repertoires of stereotyped behaviors.

Autistic Disorder↗

The first year inventory: retrospective parent responses to a questionnaire designed to identify one-year-olds at risk for autism.

The First Year Inventory (FYI) is a parent questionnaire designed to assess behaviors in 12-month-olds that suggest risk for an eventual diagnosis of autism. We examined the construct validity of the FYI by comparing retrospective responses of parents of preschool children with autism spectrum disorders (ASD; n = 38), other developmental disabilities (DD; n = 15), and typical development (TD; n = 40). Children with ASD were rated at significantly higher risk on the FYI than children with DD or TD. The DD group was at intermediate risk, also significantly higher than the TD group. These retrospective data strengthen the validity of the FYI and have implications for refining the FYI to improve its utility for prospective screening of 12-month-olds.

Autistic Disorder↗

Maternal health in pregnancy and intellectual disability in the offspring: a population-based study.

PURPOSE: The aim of the study is to investigate the relationship between common maternal conditions and intellectual disability (ID) of unknown cause in the offspring. METHODS: Information about the maternal health of children with and without ID was obtained by using record linkage. For mothers with specific medical conditions, proportions of children with mild to moderate ID, severe ID, and autism spectrum disorder (ASD) with ID were compared with those who did not have ID. RESULTS: There was an increased risk for mild to moderate ID in children of mothers with asthma (odds ratio [OR], 1.52; confidence interval [CI], 1.26-1.83]), diabetes (OR, 1.69; CI, 1.26-2.27), a renal or urinary condition (OR, 2.09; CI, 1.39-3.14), and epilepsy (OR, 3.53; CI, 2.56-4.84). ASD risk was increased for children of women with diabetes (OR, 2.89; CI, 1.28-6.51) and epilepsy (OR, 4.57; CI, 1.69-12.31). For anemia (n = 1101), there was an increased risk for severe ID (OR, 5.26; CI, 2.16-12.80). CONCLUSIONS: The increased risk for ID in offspring of mothers with such conditions as asthma and diabetes is particularly important for disadvantaged or ethnic populations, for whom these conditions are more prevalent and may be less well managed.

Adolescent↗

Caudate nucleus volume and cognitive performance: Are they related in childhood psychopathology?

BACKGROUND: Impaired neuropsychological test performance, especially on tests of executive function and attention, is often seen in children diagnosed with autism spectrum disorders (ASD). Structures involved in fronto-striatal circuitry, such as the caudate nucleus, may support these cognitive abilities. However, few studies have examined caudate volumes specifically in children with ASD, or correlated caudate volumes to cognitive ability. METHODS: Neuropsychological test scores and caudate volumes of children with ASD were compared to those of children with bipolar disorder (BD) and of typically developing (TD) children. The relationship between test performance and caudate volumes was analyzed. RESULTS: The ASD group displayed larger right and left caudate volumes, and modest executive deficits, compared to TD controls. While caudate volume inversely predicted performance on the Wisconsin Card Sorting Test in all participants, it differentially predicted performance on measures of attention across the ASD, BD and TD groups. CONCLUSIONS: Larger caudate volumes were related to impaired problem solving. On a test of attention, larger left caudate volumes predicted increased impulsivity and more omission errors in the ASD group as compared to the TD group, however smaller volume predicted poorer discriminant responding as compared to the BD group.

Adolescent↗

Oxytocin improves "mind-reading" in humans.

BACKGROUND: The ability to "read the mind" of other individuals, that is, to infer their mental state by interpreting subtle social cues, is indispensable in human social interaction. The neuropeptide oxytocin plays a central role in social approach behavior in nonhuman mammals. METHODS: In a double-blind, placebo-controlled, within-subject design, 30 healthy male volunteers were tested for their ability to infer the affective mental state of others using the Reading the Mind in the Eyes Test (RMET) after intranasal administration of 24 IU oxytocin. RESULTS: Oxytocin improved performance on the RMET compared with placebo. This effect was pronounced for difficult compared with easy items. CONCLUSIONS: Our data suggest that oxytocin improves the ability to infer the mental state of others from social cues of the eye region. Oxytocin might play a role in the pathogenesis of autism spectrum disorder, which is characterized by severe social impairment.

Administration, Intranasal↗

Survey of behaviour problems in children with neuromuscular diseases.

Previous research on clinic samples has suggested that children with neuromuscular diseases may be affected by mental health problems. The aim of this study was to establish the carer-reported prevalence of social, communication, and behavioural problems in middle childhood in a total population with neuromuscular diseases. From a target population of 111, 82 carers of children aged 5-13 years with a diagnosed neuromuscular disease living in the Northern Region of UK were interviewed about service utilisation and needs, and 66 completed the Strengths and Difficulties Questionnaire, Social Communication Questionnaire and Children's Communication Checklist. Two-fifths of children scored above the clinical cut-off on at least one questionnaire. These results were significantly higher than are reported for national and normally developing samples. Nine out of 82 had a diagnosis of autism spectrum disorder. Carers of children with problems reported significantly higher levels of unmet need. Behaviour, social and communication problems are common in children with neuromuscular diseases and Regional Neuromuscular Clinics should consider mental health screening and assessment.

Adolescent↗

Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism.

The Smith-Lemli-Opitz syndrome (SLOS) is a malformation/mental retardation syndrome resulting from an inborn error in 3beta-hydroxysteroid Delta7-reductase (DHCR7), the terminal enzyme required for cholesterol biosynthesis. Using a targeting strategy designed to virtually eliminate Dhcr7 activity, we have created a SLOS mouse model that exhibits commissural deficiencies, hippocampal abnormalities, and hypermorphic development of serotonin (5-HT) neurons. The latter is of particular interest with respect to current evidence that serotonin plays a significant role in autism spectrum disorders and the recent clinical observation that 50% of SLOS patients present with autistic behavior. Immunohistochemical analyses have revealed a 306% increase in the area of 5-HT immunoreactivity (5-HT IR) in the hindbrains of mutant (Dhcr7-/-) mice as compared to age-matched wild type animals. Amount of 5-HT IR was measured as total area of IR per histological section. Additionally, a regional increase as high as 15-fold was observed for the most lateral sagittal hindbrain sections. In Dhcr7-/- mice, an expansion of 5-HT IR into the ventricular zone and floor plate region was observed. In addition, the rostral and caudal raphe groups exhibited a radial expansion in Dhcr7-/- mice, with 5-HT IR cells present in locations not seen in wild type mice. This increase in 5-HT IR appears to represent an increase in total number of 5-HT neurons and fibers. These observations may help explain the behavioral phenotype seen in SLOS, and provide clues for future therapeutic interventions that utilize pharmacological modulation of the serotonergic system.

Animals↗

Antibrain antibodies in children with autism and their unaffected siblings.

Serum autoantibodies to human brain, identified by ELISA and Western immunoblotting, were evaluated in 29 children with autism spectrum disorder (22 with autistic disorder), 9 non-autistic siblings and 13 controls. More autistic subjects than controls had bands at 100 kDa in caudate, putamen and prefrontal cortex (p<0.01) as well as larger peak heights of bands at 73 kDa in the cerebellum and cingulate gyrus. Both autistic disorder subjects and their matched non-autistic siblings had denser bands (peak height and/or area under the curve) at 73 kDa in the cerebellum and cingulate gyrus than did controls (p<0.01). Results suggest that children with autistic disorder and their siblings exhibit differences compared to controls in autoimmune reactivity to specific epitopes located in distinct brain regions.

Autistic Disorder↗