Pubmed du 03/05/11

Pubmed du jour

2011-05-03 12:03:50

1. Brookman-Frazee L, Drahota A, Stadnick N, Palinkas LA. {{Therapist Perspectives on Community Mental Health Services for Children with Autism Spectrum Disorders}}. {Adm Policy Ment Health};2011 (May 1)

This mixed methods study examined therapist perspectives on serving children with autism spectrum disorders (ASD) in community mental health (CMH) clinics. One hundred therapists completed a survey about their experiences with this population and 17 participated in subsequent focus groups to clarify and expand survey results. Results indicate that CMH therapists serve many children with ASD for behavior or other psychiatric problems and perceive serving this population as challenging and frustrating due to their limited training. Therapists are highly motivated for comprehensive ASD training on ASD characteristics and intervention strategies. These data were used to tailor and package evidence-based intervention strategies for delivery in CMH services.

2. Dziobek I, Kohne S. {{[Brain imaging in autism spectrum disorders : A review.]}}. {Nervenarzt};2011 (Apr 29)

In the past two decades, an increasing number of functional and structural brain imaging studies has provided insights into the neurobiological basis of autism spectrum disorders (ASD). This article summarizes pertinent functional brain imaging studies addressing the neuronal underpinnings of ASD symptomatology (impairments in social interaction and communication, repetitive and restrictive behavior) and associated neuropsychological deficits (theory of mind, executive functions, central coherence), complemented by relevant structural imaging findings. The results of these studies show that although cognitive functions in ASD are generally mediated by the same brain regions as in typically developed individuals, the degree and especially the patterns of brain activation often differ. Therefore, a hypothesis of aberrant network connectivity has increasingly been favored over one of focal brain dysfunction.

3. Goldman SE, Richdale AL, Clemons T, Malow BA. {{Parental Sleep Concerns in Autism Spectrum Disorders: Variations from Childhood to Adolescence}}. {J Autism Dev Disord};2011 (May 3)

Sleep problems of adolescents and older children with Autism Spectrum Disorder (ASD) were compared to toddlers and young children in 1,859 children. Sleep was measured with the Children’s Sleep Habits Questionnaire. Total sleep problems were significant across all age groups, however the factors contributing to these problems differed. Adolescents and older children had more problems with delayed sleep onset, shorter sleep duration, and daytime sleepiness; while younger children had more bedtime resistance, sleep anxiety, parasomnias, and night wakings. The results suggest that sleep problems persist through adolescence in ASD with differences in types of problems experienced and emphasize the need for clinicians to address sleep behaviors not only in young children with ASD but throughout the age span.

4. Jameson R, Lorence D, Lee J. {{Integrating Computerized Primitives and Annotated Video Patterns: A Proposed Model for Autism Diagnosis and Research}}. {J Med Syst};2011 (May 3)

The use of computerized, digital video as a means for interactive data capture has been suggested as an alternative to direct observation of behavior. The appeal of observational measures is that they are presumed to be less vulnerable to potential biases from informants, such as parents or teachers, and permit more individualized assessment that may be lost with the use of rating scales. As a potential tool for long-term, automated observation and analysis. In this technology review we propose one promising model for the integration of computerized primitives recognition and annotated video patterns as an approach to large-scale autism diagnosis and research.

5. Kaluzna-Czaplinska J, Michalska M, Rynkowski J. {{Vitamin supplementation reduces the level of homocysteine in the urine of autistic children}}. {Nutr Res};2011 (Apr);31(4):318-321.

Significant differences in homocysteine levels in the urine of autistic children are observed. We hypothesized that vitamin supplementation might reduce the level of urinary homocysteine. To rationalize such a hypothesis, analyses were performed using the gas chromatography/mass spectrometry method. The homocysteine level in the urine of autistic children was measured twice: (1) before vitamin supplementation (group C, 30 autistic children) and (2) after supplementation, with either folic acid and vitamins B(6) and B(12) (group A1, 24 autistic children) or vitamins B(6) and B(12) alone (group A2, 6 autistic children). The homocysteine level in the urine of autistic children before vitamin supplementation was 2.41 +/- 1.10 mmol/mol creatinine (mean +/- SD difference). After treatment, the homocysteine level was reduced to 1.13 +/- 0.44 and 1.33 +/- 0.39 mmol/mol creatinine for A1 and A2 groups, respectively. The intake of vitamins B(6) and B(12), together with folic acid, was found to be more effective in lowering the levels of urinary homocysteine than the intake of vitamins B(6) and B(12) alone. Our findings may lead to the recommendation of including vitamins B(6) and B(12) together with folic acid supplementation in the diets of children with autism.

6. Kurth F, Narr KL, Woods RP, O’Neill J, Alger JR, Caplan R, McCracken JT, Toga AW, Levitt JG. {{Diminished Gray Matter Within the Hypothalamus in Autism Disorder: A Potential Link to Hormonal Effects?}}. {Biol Psychiatry};2011 (Apr 29)

BACKGROUND: Subjects with autism suffer from impairments of social interaction, deviations in language usage, as well as restricted and stereotyped patterns of behavior. These characteristics are found irrespective of age, IQ, and gender of affected subjects. However, brain changes due to age, IQ, and gender might pose potential confounds in autism neuroimaging analyses. METHODS: To investigate gray matter differences in autism that are not related to these potential confounds, we performed a voxel-based morphometry analysis in 52 affected children and adolescents and 52 matched control subjects. RESULTS: We observed diminished gray matter in a region of the hypothalamus, which synthesizes the behaviorally relevant hormones oxytocin and arginine vasopressin. CONCLUSIONS: This finding provides support for further investigations of the theory of abnormal functioning of this hormonal system in autism and potentially for experimental therapeutic approaches with oxytocin and related neuropeptides.

7. Lehnhardt FG, Gawronski A, Volpert K, Schilbach L, Tepest R, Huff W, Vogeley K. {{[Autism Spectrum Disorders in Adulthood: Clinical and Neuropsychological Findings of Aspergers Syndrome Diagnosed Late in Life.]}}. {Fortschr Neurol Psychiatr};2011 (May);79(5):290-297.

INTRODUCTION: High-functioning autism (HFA) and Aspergers syndrome (AS) are autism spectrum disorders (ASD) characterised by disturbances in social interaction, both verbal and non-verbal communication and repetitive and/or restrictive behaviour since early childhood. Symptoms appear generally during early childhood and adolescence. The increasing need to clarify diagnostic queries in advanced age led to the constitution of specialised outpatient clinics for adults involving a growing amount of HFA/AS subjects diagnosed late in life. However, thus far neuropsychological data about this group are scarce. METHODS: We present a subgroup of 39 patients with HFA/AS (mean age at diagnosis 31.1 +/- 8.9 years) who were consecutively diagnosed at the autism outpatient clinic at the Department of Psychiatry at the University Hospital Cologne. Autistic symptoms (autism spectrum quotient; AQ), depressive symptoms (Beck depression inventory; BDI), general intelligence (HAWIE-R), social cognition (« theory of mind », ToM) and executive functioning (COWAT) were systematically studied in comparison to a control group matched for age, education, gender and intelligence (n = 39). RESULTS: HFA/AS subjects presented higher AQ scores (40.4 +/- 5.2) as opposed to the healthy controls (13.5 +/- 4.8). Neuropsychologically, patients showed deficits in social cognition, executive functions and in subtests of HAWIE-R related to verbal comprehension and perceptual organisation as opposed to the healthy control group. DISCUSSION: The diagnosis of autistic disorders in adulthood basically relies on the clinical assessment of autistic core symptoms which were corroborated by high AQ values. The self-rating instrument AQ was found to be highly discriminative between the HFA/AS group and the healthy control group. The neuropsychological profile of adult HFA/AS patients diagnosed late in life is compatible with that of previously investigated HFA/AS populations. These findings show that such basic autism-associated deficits persist until adulthood, although patients are able to learn social rules.

8. Marks H, Goldenthal M, Valencia I, Legido A, Ezugha H, Anderson CE. {{Response to correspondence on  »5q14.3 deletion manifesting as mitochondrial disease and autism: case report »}}. {J Child Neurol};2011 (May);26(5):660-661.

9. Pinborough-Zimmerman J, Bakian AV, Fombonne E, Bilder D, Taylor J, McMahon WM. {{Changes in the Administrative Prevalence of Autism Spectrum Disorders: Contribution of Special Education and Health from 2002-2008}}. {J Autism Dev Disord};2011 (May 3)

This study examined changes in the administrative prevalence of autism spectrum disorders (ASD) in Utah children from 2002 to 2008 by record source (school and health), age (four, six, and eight), and special education classification. Prevalence increased 100% with 1 in 77 children aged eight identified with ASD by 2008. Across study years and age groups rates were higher when health and school data were combined with a greater proportion of cases ascertained from health. The proportion of children with both a health ASD diagnosis and a special education autism classification did not significantly change. Most children with an ASD health diagnosis did not have an autism special education classification. Findings highlight the growing health and educational impact of ASD.

10. Rutherford MD, Troje NF. {{IQ Predicts Biological Motion Perception in Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (May 3)

Biological motion is easily perceived by neurotypical observers when encoded in point-light displays. Some but not all relevant research shows significant deficits in biological motion perception among those with ASD, especially with respect to emotional displays. We tested adults with and without ASD on the perception of masked biological motion and the perception of direction from coherent and scrambled biological motion. Within the autism spectrum group, there was a large and statistically significant relationship between IQ and the ability to perceive directionality in masked biological motion. There were no group differences in sensitivity to biological motion or the ability to identify the direction of motion. Possible explanations are discussed, including the possible use of compensatory strategies in high IQ ASD.

11. Signorini C, De Felice C, Leoncini S, Giardini A, D’Esposito M, Filosa S, Della Ragione F, Rossi M, Pecorelli A, Valacchi G, Ciccoli L, Hayek J. {{F(4)-neuroprostanes mediate neurological severity in Rett syndrome}}. {Clin Chim Acta};2011 (Apr 17)

BACKGROUND: Rett syndrome (RTT) is a pervasive development disorder, mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene. No reliable biochemical markers of the disease are available, here we assess F(4)-neuroprostanes (F(4)-NeuroPs), lipid peroxidation products of the docosahexaenoic acid, as a novel disease marker in RTT and correlate it with the clinical presentation, MeCP2 mutation type, and disease progression. In addition we study the impact of omega-3 polyunsaturated fatty acids (omega-3 PUFAs) supplementation on F(4)-NeuroPs levels. METHODS: A case-control study design was used. A cohort of RTT patients (n=144) exhibiting different clinical presentations, disease stages, and MeCP2 gene mutations were evaluated. F(4)-NeuroPs were measured in free form using a GC/NICI-MS/MS technique. Plasma F(4)-NeuroPs levels in patients were compared to healthy controls and related to RTT forms, disease progression, and response to omega-3 PUFAs supplementation. RESULTS: Plasma F(4)-NeuroPs levels were i) higher in RTT than in controls; ii) increase with the severity of neurological symptoms; iii) significantly elevated during the typical disease progression; iv) higher in MeCP2-nonsense as compared to missense mutation carriers; v) higher in typical RTT as compared to RTT variants; and vi) decrease in response to 12months omega-3 PUFAs oral supplementation. CONCLUSIONS: Quantification of plasma F(4)-NeuroPs provides a novel RTT marker, related to neurological symptoms severity, mutation type and clinical presentation.

12. Xi CY, Lu Y, Tan YH, Hua TY, Zhao YJ, Liu XM, Gao H. {{Analysis of MECP2 Gene Copy Number in Boys With Autism}}. {J Child Neurol};2011 (May);26(5):570-573.

Autism is a severe neurodevelopmental disorder with a strong genetic basis.The methyl-CpG binding protein 2 gene (MECP2) is a dosage-sensitive gene in brain development and has been implicated as a candidate gene for autism. Duplication of the MECP2 gene has been reported in a few boys with autistic features. To further investigate the association of MECP2 duplication with autism, the authors performed real-time quantitative polymerase chain reaction (PCR) to detect copy number variations of the MECP2 gene in 82 autistic boys. No copy number variation was found in these patients, indicating that duplication of the MECP2 gene is not frequent in autistic patients. The authors consider that duplication of the MECP2 gene has no major effect on the susceptibility to autism. Replication of studies in a large-sized sample and a well-characterized subgroup of autism are warranted to further identify the association of MECP2 gene duplication with autism.

13. Zerbo O, Iosif AM, Delwiche L, Walker C, Hertz-Picciotto I. {{Month of Conception and Risk of Autism}}. {Epidemiology};2011 (May 3)

BACKGROUND:: Studies of season of birth or season of conception can provide clues about etiology. We investigated whether certain months or seasons of conception are associated with increased risk of autism spectrum disorders, for which etiology is particularly obscure. METHODS:: The study population comprises 6,604,975 children born from 1990 to 2002 in California. Autism cases (n = 19,238) were identified from 1990 through 2008 in databases of the California Department of Developmental Services, which coordinates services for people with developmental disorders. The outcome in this analysis was autism diagnosed before the child’s sixth birth date. The main independent variables were month of conception and season of conception (winter, spring, summer, and fall). Multivariate logistic regression models were used to estimate odds ratios (ORs) with their 95% confidence intervals (CIs) for autism by month of conception. RESULTS:: Children conceived in December (OR = 1.09 [95% CI = 1.02-1.17]), January (1.08 [1.00-1.17]), February (1.12 [1.04-1.20]), or March (1.16 [1.08-1.24]) had higher risk of developing autism compared with those conceived in July. Conception in the winter season (December, January, and February) was associated with a 6% (OR = 1.06, 95% CI = 1.02-1.10) increased risk compared with summer. CONCLUSIONS:: Higher risks for autism among those conceived in winter months suggest the presence of environmental causes of autism that vary by season.