1. Atladottir HO, Thorsen P, Ostergaard L, Schendel DE, Lemcke S, Abdallah M, Parner ET. {{Maternal Infection Requiring Hospitalization During Pregnancy and Autism Spectrum Disorders}}. {J Autism Dev Disord} (Apr 23)
Exposure to prenatal infection has been suggested to cause deficiencies in fetal neurodevelopment. In this study we included all children born in Denmark from 1980, through 2005. Diagnoses of autism spectrum disorders (ASDs) and maternal infection were obtained through nationwide registers. Data was analyzed using Cox proportional hazards regression. No association was found between any maternal infection and diagnosis of ASDs in the child when looking at the total period of pregnancy: adjusted hazard ratio = 1.14 (CI: 0.96-1.34). However, admission to hospital due to maternal viral infection in the first trimester and maternal bacterial infection in the second trimester were found to be associated with diagnosis of ASDs in the offspring, adjusted hazard ratio = 2.98 (CI: 1.29-7.15) and adjusted hazard ratio = 1.42 (CI: 1.08-1.87), respectively. Our results support prior hypotheses concerning early prenatal viral infection increasing the risk of ASDs.
2. Bayou N, Belhadj A, Daoud H, Briault S, Helayem MB, Chaabouni H, M’Rad R. {{Exploring the 7p22.1 chromosome as a candidate region for autism}}. {J Biomed Biotechnol};2010:423894.
A high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of autism. A previous study on a Tunisian boy carrying a t(7;16) translocation identified the 7p22.1 as a positional candidate region for autism on chromosome 7. The characterization of the chromosomal breakpoints helped us to identify new candidate regions on chromosome 16p11.2 which contain no known genes and the other one on 7p22.1 containing a portion of genes (NP 976327.1, RBAK, Q6NUR6 also called RNF216L and MMD2). We proposed Q6NUR6 (RNF216L) as a candidate gene for autism due to its vicinity to the translocation breakpoint on the chromosome derivative 7. Q6NUR6 is predicted to be an E3ubiquitin-ligase. Quantitative PCR demonstrates that Q6NUR6 gene has an ubiquitous expression and that it is strongly expressed in fetal and adult brain. The Q6NUR6 expression is increased in the patient blood cells in comparison to controls. This is the first report of Q6NUR6 gene (E3 ubiquitin ligase TRIAD3 EC 6.3.2) increasing blood levels in a patient with autism. It’s probably caused by a position effect involving this gene and modifying its expression.
3. Ek U. {{Autism spectrum disorder in visually impaired young children}}. {Dev Med Child Neurol} (Apr 12)
4. Jou RJ, Minshew NJ, Keshavan MS, Hardan AY. {{Cortical Gyrification in Autistic and Asperger Disorders: A Preliminary Magnetic Resonance Imaging Study}}. {J Child Neurol} (Apr 22)
The validity of Asperger disorder as a distinct syndrome from autism is unclear partly because of the paucity of differentiating neurobiological evidence. Frontal lobe cortical folding between these disorders was compared using the gyrification index. Twenty-three boys underwent structural magnetic resonance imaging: 6 with high-functioning autism, 9 with Asperger disorder, and 8 controls. Using the first coronal slice anterior to the corpus callosum, total and outer cortical contours were traced to calculate the gyrification index. This index was also calculated for superior and inferior regions to examine dorsolateral prefrontal and orbitofrontal cortices, respectively. Analysis of variance revealed differences in the left inferior gyrification index, which was higher in the autism group compared with Asperger and control groups. There were no differences in age, intelligence quotient, and brain volume. These preliminary findings suggest that cortical folding may be abnormally high in the frontal lobe in autism but not Asperger disorder, suggesting distinct frontal lobe neuropathology.
5. Lampi KM, Sourander A, Gissler M, Niemela S, Rehnstrom K, Pulkkinen E, Peltonen L, Von Wendt L. {{Brief Report: Validity of Finnish Registry-Based Diagnoses of Autism with the ADI-R}}. {Acta Paediatr} (Apr 19)
ABSTRACT The aim of the study was to explore the validity of registry-based diagnoses of autism in Finland using the Autism Diagnostic Interview – Revised (ADI-R). This study was designed for the Finnish Prenatal Study of Autism and Autism Spectrum Disorders (FIPS-A), an ongoing research project where registry-based diagnoses will be used for epidemiological studies. In this small pilot study, a clinical sample of 95 subjects diagnosed with childhood autism or pervasive developmental disorder/ pervasive developmental disorder – not otherwise specified (PDD/PDD-NOS) or Asperger’s syndrome according to the Finnish Hospital Discharge Register (FHDR) was gathered nationwide. A small control group consisting of siblings without any registered diagnoses of those being examined was also included in the study. Diagnoses were further re-evaluated by interviewing parents with the Autism Diagnostic Interview -Revised (ADI-R). The mean scores of autistic subjects clearly exceeded cut-off limits for autism on all three ADI-R domains and 96% of the subjects with registered diagnosis of childhood autism fulfilled the criteria based on the instrument as well. These results suggest that the validity of Finnish registry-based diagnoses of childhood autism can be considered good. Our findings lay important groundwork for further population- based studies of the etiology of autism.
6. Lewis CD, Traboulsi EI, Rothner AD, Jeng BH. {{Xerophthalmia and Intracranial Hypertension in an Autistic Child with Vitamin A Deficiency}}. {J Pediatr Ophthalmol Strabismus} (Mar 26):1-3.
The authors present a 10-year-old boy with autism and idiopathic intracranial hypertension referred for evaluation of dry eyes. When questioned, the patient’s parents reported that he had a restricted diet. Laboratory testing revealed hypovitaminosis A. The symptoms and signs of xerophthalmia rapidly resolved with oral and topical vitamin A supplementation.
7. Li X, Hu Z, He Y, Xiong Z, Long Z, Peng Y, Bu F, Ling J, Xun G, Mo X, Pan Q, Zhao J, Xia K. {{Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population}}. {Psychiatr Genet} (Apr 21)
OBJECTIVES: Autism is a neurodevelopmental disorder, and genetic factors play an important role in its pathogenesis. Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population. METHODS: In this study, three single nucleotide polymorphisms located within the CNTNAP2 were genotyped in 185 Chinese Han autistic families by polymerase chain reaction-restriction fragment length polymorphism analysis, followed by a transmission disequilibrium test. RESULTS: The results show that a common noncoding variant (rs10500171) is associated with the increased risk for autism, and haplotype T-A (rs7794745- rs10500171, P=0.011) and haplotype A-T-A (rs10244837- rs7794745- rs10500171, P=0.032) also showed evidence of association. CONCLUSION: The results of family-based association study suggested that the CNTNAP2 is a susceptibility gene of autism in the Chinese Han population.
8. Patterson SY, Smith V, Jelen M. {{Behavioural intervention practices for stereotypic and repetitive behaviour in individuals with autism spectrum disorder: a systematic review}}. {Dev Med Child Neurol} (Apr);52(4):318-327.
AIM: The purpose of this systematic review was to examine the quality of conduct of experimental studies contributing to our empirical understanding of function-based behavioural interventions for stereotypic and repetitive behaviours (SRBs) in individuals with autism spectrum disorders (ASDs). METHOD: Systematic review methodology was used to identify relevant articles, to rate the level of evidence and quality of conduct of the studies, and to extract data systematically. RESULTS: Ten single case studies examining 17 participants (14 males, 3 females; age 2y 11mo-26y) diagnosed with various ASDs were included. Overall, studies reported decreases in SRBs using behavioural interventions and some collateral increase in desirable behaviours. INTERPRETATION: Only a small number of intervention studies for SRBs explicitly state the function of the behaviour; therefore, relatively little is known about the efficacy of SRB interventions in relation to the range of possible behavioural functions. Evidence supporting SRB interventions is preliminary in nature, and caution should be used in choosing and implementing SRB intervention practices for individuals with ASDs.
9. South M, Dana J, White SE, Crowley MJ. {{Failure is Not an Option: Risk-Taking is Moderated by Anxiety and Also by Cognitive Ability in Children and Adolescents Diagnosed with an Autism Spectrum Disorder}}. {J Autism Dev Disord} (Apr 23)
Understanding hetereogeneity in symptom expression across the autism spectrum disorders (ASD) is a major challenge for identifying causes and effective treatments. In 40 children and adolescents diagnosed with ASD and 37 IQ-and age-matched comparison participants (the TYP group), we found no differences in summary measures on an experimental risk-taking task. However, anxiety and IQ predicted risk-taking only in the ASD group. Risk-taking was correlated with behavioral inhibition in the ASD group and behavioral activation in the TYP group. We suggest that performance on the task was motivated by fear of failure in the ASD group and by sensitivity to reward in the TYP group. Behavioral markers of anxiety and cognitive ability may improve conceptualization of heterogeneity in ASD.
10. Whitehouse AJ, Hickey M, Stanley FJ, Newnham JP, Pennell CE. {{Brief Report: A Preliminary Study of Fetal Head Circumference Growth in Autism Spectrum Disorder}}. {J Autism Dev Disord} (Apr 23)
Fetal head circumference (HC) growth was examined prospectively in children with autism spectrum disorder (ASD). ASD participants (N = 14) were each matched with four control participants (N = 56) on a range of parameters known to influence fetal growth. HC was measured using ultrasonography at approximately 18 weeks gestation and again at birth using a paper tape-measure. Overall body size was indexed by fetal femur-length and birth length. There was no between-groups difference in head circumference at either time-point. While a small number of children with ASD had disproportionately large head circumference relative to body size at both time-points, the between-groups difference did not reach statistical significance in this small sample. These preliminary findings suggest that further investigation of fetal growth in ASD is warranted.
