1. Annaz D, Campbell R, Coleman M, Milne E, Swettenham J. {{Young Children with Autism Spectrum Disorder Do Not Preferentially Attend to Biological Motion}}. {J Autism Dev Disord};2011 (May 6)
Preferential attention to biological motion can be seen in typically developing infants in the first few days of life and is thought to be an important precursor in the development of social communication. We examined whether children with autism spectrum disorder (ASD) aged 3-7 years preferentially attend to point-light displays depicting biological motion. We found that children with ASD did not preferentially attend to biological motion over phase-scrambled motion, but did preferentially attend to a point-light display of a spinning top rather than a human walker. In contrast a neurotypical matched control group preferentially attended to the human, biological motion in both conditions. The results suggest a core deficit in attending to biological motion in ASD.
2. Caria A, Venuti P, de Falco S. {{Functional and Dysfunctional Brain Circuits Underlying Emotional Processing of Music in Autism Spectrum Disorders}}. {Cereb Cortex};2011 (May 6)
Despite intersubject variability, dramatic impairments of socio-communicative skills are core features of autistic spectrum disorder (ASD). A deficit in the ability to express and understand emotions has often been hypothesized to be an important correlate of such impairments. Little is known about individuals with ASD’s ability to sense emotions conveyed by nonsocial stimuli such as music. Music has been found to be capable of evoking and conveying strong and consistent positive and negative emotions in healthy subjects. The ability to process perceptual and emotional aspects of music seems to be maintained in ASD. Individuals with ASD and neurotypical (NT) controls underwent a single functional magnetic resonance imaging (fMRI) session while processing happy and sad music excerpts. Overall, fMRI results indicated that while listening to both happy and sad music, individuals with ASD activated cortical and subcortical brain regions known to be involved in emotion processing and reward. A comparison of ASD participants with NT individuals demonstrated decreased brain activity in the premotor area and in the left anterior insula, especially in response to happy music excerpts. Our findings shed new light on the neurobiological correlates of preserved and altered emotional processing in ASD.
3. Fatemi SH, Folsom TD. {{Dysregulation of fragile X mental retardation protein and metabotropic glutamate receptor 5 in superior frontal cortex of subjects with autism: a postmortem brain study}}. {Mol Autism};2011 (May 6);2(1):6.
ABSTRACT: BACKGROUND: Fragile X syndrome is caused by loss of function of the Fragile X mental retardation-1 gene (FMR1) and shares multiple phenotypes with autism. We have previously found reduced expression of the protein product of FMR1 (FMRP) in vermis of subjects with autism. METHODS: In the current study, we have investigated levels of FMRP in the superior frontal cortex of people with autism and matched controls using Western blot analysis. Because FMRP regulates the translation of multiple genes, we also measured protein levels for downstream molecules metabotropic glutamate receptor 5 (mGluR5) and gamma-aminobutyric acid (GABA) A receptor 3 (GABR3), as well as glial fibrillary acidic protein (GFAP). RESULTS: We observed significantly reduced levels of protein for FMRP in adults with autism, significantly increased levels of protein for mGluR5 in children with autism, and significantly increased levels of GFAP in adults and children with autism. We found no change in expression of GABRbeta3. Our results for FMRP, mGluR5, and GFAP confirm our previous work in cerebellar vermis of subjects with autism. CONCLUSION: These changes may be responsible for cognitive deficits and seizure disorder in subjects with autism.
4. Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. {{Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome}}. {J Child Neurol};2011 (May 4)
The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used to source a total of 293 confirmed female subjects. Most girls learned to sit, were able to babble or use words, and approximately half learned to walk. Altered milestone attainment was associated with earlier diagnosis. There was variation in the acquisition of milestones, the age of regression, and the age of diagnosis by genotype. Most parents expressed concerns about unusual behaviors or development during infancy, and a more subtle atypical development during infancy was reported for most girls. It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account.
5. 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.
6. Wang LW, Tancredi DJ, Thomas DW. {{The Prevalence of Gastrointestinal Problems in Children Across the United States with Autism Spectrum Disorders from Families with Multiple Affected Members}}. {J Dev Behav Pediatr};2011 (May 6)
OBJECTIVE:: To perform a large registry-based study to determine the relative prevalence of gastrointestinal (GI) problems in children with an autism spectrum disorder (ASD) from families with multiple affected members compared with their unaffected sibling(s). METHODS:: In-home structured retrospective medical history interviews by parent recall were conducted by a pediatric neurologist. Our analysis sample included information about GI health of 589 subjects with idiopathic, familial ASD and 163 of their unaffected sibling controls registered with Autism Genetic Resource Exchange. Individuals with ASD were subgrouped into 3 autism severity groups (Full Autism, Almost Autism, and Spectrum) based on their Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Scale scores. RESULTS:: Parents reported significantly more GI problems in children with ASD (249/589; 42%) compared with their unaffected siblings (20/163; 12%) (p < .001). The 2 most common Gl problems in children with ASD were constipation (116/589; 20%) and chronic diarrhea (111/589; 19%). Conditional logistic regression analysis showed that having Full Autism (adjusted odds ratio [AOR] = 14.28, 95% confidence interval [CI]: 6.22-32.77) or Almost Autism (AOR = 5.16, 95% CI 2.02-13.21) was most highly associated with experiencing GI problems. Increased autism symptom severity was associated with higher odds of GI problems (AOR for trend = 2.63, 95% CI: 1.56-4.45). CONCLUSIONS:: Parents report significantly more GI problems in children with familial ASD, especially those with Full Autism, than in their unaffected children. Increased autism symptom severity is associated with increased odds of having GI problems.
7. 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.
