1. Beuker KT, Schjolberg S, Lie KK, Donders R, Lappenschaar M, Swinkels SH, Buitelaar JK. {{The Structure of Autism Spectrum Disorder Symptoms in the General Population at 18 Months}}. {J Autism Dev Disord};2012 (May 5)
It is unclear whether symptoms of autism spectrum disorder (ASD) in young children in the population fit the three-factor structure of ASD as described in the DSM-IV, and cluster together in individual subjects. This study analysed questionnaire data on ASD symptoms filled in by mothers of 11,332 18-month-old children that was collected in the context of the Norwegian Mother and Child Cohort Study conducted by the Norwegian Institute of Public Health. Confirmatory Factor Analyses showed that the three-factor model had a significantly better fit then the two- and one-factor model of ASD symptoms. Latent class analysis revealed four homogeneous groups of children (classes) with different scores for Social Interaction and Communication at one hand and Stereotypies/Rigidity at the other hand.
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2. Ellegood J, Henkelman RM, Lerch JP. {{Neuroanatomical Assessment of the Integrin beta3 Mouse Model Related to Autism and the Serotonin System Using High Resolution MRI}}. {Front Psychiatry};2012;3:37.
The integrinbeta3 (ITGbeta3) gene has been associated with both autism and the serotonin system. The purpose of this study was to examine the volumetric differences in the brain of an ITGbeta3 homozygous knockout mouse model compared with a corresponding wild-type mouse using high resolution magnetic resonance imaging and detailed statistical analyses. The most striking difference found was an 11% reduction in total brain volume. Moreover, 32 different regions were found to have significantly different relative volumes (percentage total brain volume) in the ITGbeta3 mouse. A number of interesting differences relevant to autism were discovered including a smaller corpus callosum volume and bilateral decreases in the hippocampus, striatum, and cerebellum. Relative volume increases were also found in the frontal and parieto-temporal lobes as well as in the amygdala. Particularly intriguing were the changes in the lateral wings of the dorsal raphe nuclei since that nucleus is so integral to the development of many different brain regions and the serotonin system in general.
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3. Eriksson MA, Westerlund J, Anderlid BM, Gillberg C, Fernell E. {{First-degree relatives of young children with autism spectrum disorders: Some gender aspects}}. {Res Dev Disabil};2012 (May 1);33(5):1642-1648.
Prenatal risk factors, with special focus on gender distribution of neurodevelopmental and psychiatric conditions were analysed in first-degree relatives in a population-based group of young children with autism spectrum disorders (ASD). Multiple information sources were combined. This group was contrasted with the general population regarding data from the Swedish Medical Birth register. In the ASD group, information was also obtained at parental interviews focusing on developmental and psychiatric disorders in the family. Compared to the general population, fathers of children with ASD were older and parents more often of non-European origin. Mothers of children with ASD had an increased rate of antidepressant and psychoactive medication use, and of scheduled caesarean sections. Fathers and brothers of children with ASD had high rates of ASD including the broader phenotype. Mothers of children with ASD had high rates of depression and other psychiatric disorders. These findings, hypothetically, could reflect a different ASD phenotype and difficulties diagnosing ASD in females or be an example of the close genetic relation between ASD and other psychiatric disorders. The results suggest that, in clinical and research settings, the familial background in ASD should be reviewed with a broader approach, and not be restricted to « looking out » only for diagnoses and symptoms traditionally accepted as being part of or typical of ASD. The high rate of parents of non-European origin has been noted in many Swedish studies of ASD, but the reason for this association, remains unclear.
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4. Kang JQ, Barnes G. {{A Common Susceptibility Factor of Both Autism and Epilepsy: Functional Deficiency of GABA(A) Receptors}}. {J Autism Dev Disord};2012 (May 4)
Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high co-morbidity of autism and epilepsy. The neuropathology of autism and epilepsy has similar histology implicating the processes of neurogenesis, neural migration, programmed cell death, and neurite outgrowth. Genetic advances have identified multiple molecules that participate in neural development, brain network connectivity, and synaptic function which are involved in the pathogenesis of autism and epilepsy. Mutations in GABA(A) receptor subunit have been frequently associated with epilepsy, autism, and other neuropsychiatric disorders. In this paper, we address the hypothesis that functional deficiency of GABAergic signaling is a potential common molecular mechanism underpinning the co-morbidity of autism and epilepsy.
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5. Kelleher Iii RJ, Geigenmuller U, Hovhannisyan H, Trautman E, Pinard R, Rathmell B, Carpenter R, Margulies D. {{High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism}}. {PLoS One};2012;7(4):e35003.
Identification of common molecular pathways affected by genetic variation in autism is important for understanding disease pathogenesis and devising effective therapies. Here, we test the hypothesis that rare genetic variation in the metabotropic glutamate-receptor (mGluR) signaling pathway contributes to autism susceptibility. Single-nucleotide variants in genes encoding components of the mGluR signaling pathway were identified by high-throughput multiplex sequencing of pooled samples from 290 non-syndromic autism cases and 300 ethnically matched controls on two independent next-generation platforms. This analysis revealed significant enrichment of rare functional variants in the mGluR pathway in autism cases. Higher burdens of rare, potentially deleterious variants were identified in autism cases for three pathway genes previously implicated in syndromic autism spectrum disorder, TSC1, TSC2, and SHANK3, suggesting that genetic variation in these genes also contributes to risk for non-syndromic autism. In addition, our analysis identified HOMER1, which encodes a postsynaptic density-localized scaffolding protein that interacts with Shank3 to regulate mGluR activity, as a novel autism-risk gene. Rare, potentially deleterious HOMER1 variants identified uniquely in the autism population affected functionally important protein regions or regulatory sequences and co-segregated closely with autism among children of affected families. We also identified rare ASD-associated coding variants predicted to have damaging effects on components of the Ras/MAPK cascade. Collectively, these findings suggest that altered signaling downstream of mGluRs contributes to the pathogenesis of non-syndromic autism.
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6. van der Meer L, Kagohara D, Achmadi D, O’Reilly MF, Lancioni GE, Sutherland D, Sigafoos J. {{Speech-generating devices versus manual signing for children with developmental disabilities}}. {Res Dev Disabil};2012 (May 1);33(5):1658-1669.
We compared speed of acquisition and preference for using a speech-generating device (SGD) versus manual signing (MS) as augmentative and alternative communication (AAC) options. Four children with developmental disabilities (DD), aged 5-10 years, were taught to request preferred objects using an iPod((R))-based SGD and MS. Intervention was introduced in a multiple-probe across participants design and SGD and MS conditions were compared in an alternating treatments design. A systematic choice-making paradigm was implemented to determine if the children showed a preference for using SGD or MS. All participants showed increased use of SGD when intervention was introduced, but only three learned under the MS condition. Three participants exhibited a preference for the SGD while the remaining participant demonstrated a preference for using MS. Results support previous studies showing that individuals with DD often show a preference for different AAC options and extend previous data by suggesting that acquisition and maintenance was better for the preferred option.
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7. Yang Y, Wang C, Wang F, Zhu L, Liu H, He X. {{Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation}}. {Gene};2012 (Apr 24)
We describe a 5-year-old girl presented with autism and mental retardation features. Conventional karyotyping revealed a novel unidirectional translocation t(11;9)(p15;p23). HumanCytoSNP-12 Chip analysis identified a 13Mb deletion from 9p24.3 to 9p23 and a 12.5Mb duplication from 9p23 to 9p21.2. The karyotype was described as 45,XX,psu dic(11; 9)(p15;p23), which was reported for the first time here. The deleted region, extending from 9p24.3 to 9p23, overlaps with the candidate region for monosomy 9p syndrome and contains a potential autism spectrum disorders (ASD) locus. The duplication region extending from 9p23 to 9p21.2 was previously identified as a critical region for the 9p duplication syndrome. These results suggested that the apparently balanced de novo translocations could produce cryptic deletions or duplications, and the precise mapping of the abnormal area may improve clinical management.
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8. Zerbo O, Iosif AM, Walker C, Ozonoff S, Hansen RL, Hertz-Picciotto I. {{Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study}}. {J Autism Dev Disord};2012 (May 5)
We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though neither ASD nor DD was associated with influenza, both were associated with maternal fever during pregnancy: OR’s (odds ratios) were 2.12 (95 % CI 1.17, 3.84) and 2.50 (95 % CI 1.20, 5.20) respectively. However, the fever-associated ASD risk was attenuated among mothers who reported taking antipyretic medications (OR = 1.30, 95 % CI 0.59, 2.84), but remained elevated for those who did not (OR = 2.55, 95 % CI 1.30, 4.99).
