1. Ardizzone I, Soletti L, Panunzi S, Carratelli TI. {{[Autistic dimension in obsessive-compulsive disorder in adolescence]}}. {Riv Psichiatr} (Mar-Apr);45(2):94-101.
AIM: This study examines the obsessive-compulsive disorder (OCD) with normal and poor insight of illness and it detects the presence of autistic traits. The aim is to establish the relationship between OCD and Autistic Spectrum Disorder (ASD): comorbidity or subtype of OCD? METHODS: The sample consists of 48 adolescents (aged 12-18) with a clinical diagnosis of OCD (according DSM-IV-TR). After administering the Children’s Yale Brown Obsessive-Compulsive Scale (CYBOCS) and the Brown Assessement Beliefs Scale (BABS), the sample is divided into two groups according to insight of illness. Autism Diagnostic Observation Schedule (ADOS) and Social Communication Questionnaire (SCQ) were used to assist in the ASD diagnosis; Structured Clinical Interview for DSM-IV Axis II Personality Disorders (SCID-II) was administered to assess personality disorders. RESULTS: 47% of subjects presents poor insight and 27% are included within the diagnostic criteria for autistic spectrum disorder. Poor insight in obsessive-compulsive symptoms is significantly associated with the presence of autistic traits. There is also a significant association between cluster hoarding and poor insight. DISCUSSION: This study suggests the existence of an obsessive autistic atypical subtype, where the compulsive dimension of repetitive behaviours vanishes in an autistic dimension with stereotyped manifestations. Further research should be conducted to better understand this obsessive autistic atypical subtype and to put it in the obsessive-compulsive spectrum in adolescence.
2. Brooks-Kayal A. {{Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?}}. {Brain Dev} (May 28)
Autistic spectrum disorders (ASD) and epilepsies are heterogeneous disorders that have diverse etiologies and pathophysiologies. The high rate of co-occurrence of these disorders suggest potentially shared underlying mechanisms. A number of well-known genetic disorders share epilepsy and autism as prominent phenotypic features, including tuberous sclerosis, Rett syndrome, and fragile X. In addition, mutations of several genes involved in neurodevelopment, including ARX, DCX, neuroligins and neuropilin2 have been identified in children with epilepsy, ASD or often both. Finally, in animal models, early-life seizures can result in cellular and molecular changes that could contribute to learning and behavioral disabilities as seen in ASD. Increased understanding of the common genetic, molecular and cellular mechanisms of ASD and epilepsy may provide insight into their underlying pathophysiology and elucidate new therapeutic approaches of both conditions.
3. Estigarribia B, Erwick Roberts J, Sideris J, Price J. {{Expressive morphosyntax in boys with Fragile X syndrome with and without autism spectrum disorder}}. {Int J Lang Commun Disord} (Jun 23)
Background: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, and the most common single gene disorder associated with autism. Language impairments in this disorder are well documented, but the nature and extent of syntactic impairments are still unclear. Aims: To compare the performance of boys with FXS with and without autism spectrum disorder on measures of verb (VM) and noun (NM) morphosyntax with that of typically developing boys of similar non-verbal mental ages. Methods & Procedures: Conversational samples were obtained from 33 boys with FXS with autism spectrum disorder (FXS-ASD), 35 boys with FXS and no ASD (FXS-O), and 46 typically developing boys (TD). Production of verbal and nominal morphosyntax was assessed separately in these two subdomains. A hierarchical linear model compared morphosyntactic scores in all groups after adjusting for non-verbal cognition, articulatory skill, and caregiver education. The model also tested interactions between group and morphosyntactic subdomain. Outcomes & Results: Boys with FXS in both groups scored lower than the TD boys on both measures. The FXS-O and the FXS-ASD groups did not differ on either composite measure. All covariates were significantly related to morphosyntactic scores. Conclusions & Implications: Part of the morphosyntactic impairment in FXS may be attributable to cognitive, environmental, and speech factors. However, it is clear that boys with FXS perform at levels lower than expected from differences in these extra-linguistic factors alone, across both the verb and the noun domains. Clinical interventions should therefore seek to address specific syntactic targets.
4. Indredavik MS. {{Extremely preterm children at increased risk of autism spectrum disorders}}. {Evid Based Ment Health} (Jun 22)
5. Meguid NA, Hashish AF, Anwar M, Sidhom G. {{Reduced serum levels of 25-hydroxy and 1,25-dihydroxy vitamin D in Egyptian children with autism}}. {J Altern Complement Med} (Jun);16(6):641-645.
OBJECTIVE: The aim of this study was to investigate the potential role of vitamin D in autism through serum level assessment. DESIGN: This was a case-controlled cross-sectional study. SETTING: The study was conducted at the Out-patient Clinic for « Children with Special Needs » at the Medical Services Unit of the National Research Centre in Cairo, Egypt. SUBJECTS: Seventy (70) children with autism diagnosed according to the DSM-IV criteria of the American Psychiatric Association were recruited for this study. The mean age +/- standard deviation (SD) of the patients was 5.3 +/- 2.8 years. Controls included 42 age-matched randomly selected healthy children of the same socioeconomic status (mean age +/- SD, 6.1 +/- 1.8 years). METHODS: Circulating levels of both forms of vitamin D (25(OH)D and 1,25(OH)(2)D) and serum calcium were measured for all subjects. Associations between vitamin D status, birth season, and clinical characteristics of autism were examined. RESULTS: Children with autism had significantly lower 25(OH)D (p < 0.00001) and 1,25(OH)(2)D (p < 0.005) as well as lower calcium (p < 0.0001) serum values than the controls. A significant positive correlation was obtained between 25(OH)D and calcium (correlation coefficient r = 0.309, p < 0.01) within the children with autism. No significant difference was found on comparison of birth month and season of birth between children with autism and healthy controls. Furthermore, associations linking parental consanguinity or convulsions with vitamin D could not be established. CONCLUSIONS: Serum values of 25(OH)D in the children with autism of this study could classify them as being « vitamin D inadequate, » which lends support to the hypothesis that autism is a vitamin D deficiency disorder.
6. Nectoux J, Fichou Y, Rosas-Vargas H, Cagnard N, Bahi-Buisson N, Nusbaum P, Letourneur F, Chelly J, Bienvenu T. {{Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes}}. {J Cell Mol Med} (Jun 21)
Abstract More than 90% of Rett syndrome (RTT) patients have heterozygous mutations in the X-linked MECP2 gene that encodes the methyl-CpG-binding protein 2, a transcriptional modulator. Because MECP2 is subjected to X chromosome inactivation (XCI), girls with RTT either express the wild-type or mutant allele in each individual cell. To test the consequences of MECP2 mutations resulting from a genome-wide transcriptional dysregulation and to identify its target genes in a system that circumvents the functional mosaicism resulting from XCI, we carried out gene expression profiling of clonal populations derived from fibroblast primary cultures expressing exclusively either the wild-type or the mutant MECP2 allele. Clonal cultures were obtained from skin biopsy of three RTT patients carrying either a non-sense or a frameshift MECP2 mutation. For each patient, gene expression profiles of wild-type and mutant clones were compared by oligonucleotide expression microarray analysis. Firstly, clustering analysis classified the RTT patients according to their genetic background and MECP2 mutation. Secondly, expression profiling by microarray analysis and quantitative RT-PCR indicated four upregulated genes and five downregulated genes significantly dysregulated in all our statistical analysis, including excellent potential candidate genes for the understanding of the pathophysiology of this neurodevelopmental disease. Thirdly, chromatin immunoprecipitation analysis confirmed MECP2 binding to respective CpG islands in three out of four upregulated candidate genes and sequencing of bisulfite-converted DNA indicated that MECP2 preferentially binds to methylated-DNA sequences. Most importantly, the finding that at least two of these genes (BMCC1 and RNF182) were shown to be involved in cell survival and/or apoptosis may suggest that impaired MECP2 function could alter the survival of neurons thus compromising brain function without inducing cell death.
7. Neuhaus E, Beauchaine TP, Bernier R. {{Neurobiological correlates of social functioning in autism}}. {Clin Psychol Rev} (May 27)
Although autism is defined by deficits in three areas of functioning (social, communicative, and behavioral), impairments in social interest and restricted behavioral repertoires are central to the disorder. As a result, a detailed understanding of the neurobiological systems subserving social behavior may have implications for prevention, early identification, and intervention for affected families. In this paper, we review a number of potential neurobiological mechanisms-across several levels of analysis-that subserve normative social functioning. These include neural networks, neurotransmitters, and hormone systems. After describing the typical functioning of each system, we review available empirical findings specific to autism. Among the most promising potential mechanisms of social behavioral deficits in autism are those involving neural networks including the amygdala, the mesocorticolimbic dopamine system, and the oxytocin system. Particularly compelling are explanatory models that integrate mechanisms across biological systems, such as those linking dopamine and oxytocin with brain regions critical to reward processing.
8. Stoltenberg C, Schjolberg S, Bresnahan M, Hornig M, Hirtz D, Dahl C, Lie KK, Reichborn-Kjennerud T, Schreuder P, Alsaker E, Oyen AS, Magnus P, Suren P, Susser E, Lipkin WI. {{The Autism Birth Cohort: a paradigm for gene-environment-timing research}}. {Mol Psychiatry} (Jul);15(7):676-680.
The reported prevalence of autism spectrum disorders (ASDs) has increased by 5- to 10-fold over the past 20 years. Whether ASDs are truly more frequent is controversial; nonetheless, the burden is profound in human and economic terms. Although autism is among the most heritable of mental disorders, its pathogenesis remains obscure. Environmental factors are proposed; however, none is implicated. Furthermore, there are no biomarkers to screen for ASD or risk of ASD. The Autism Birth Cohort (ABC) was initiated to analyze gene x environment x timing interactions and enable early diagnosis. It uses a large, unselected birth cohort in which cases are prospectively ascertained through population screening. Samples collected serially through pregnancy and childhood include parental blood, maternal urine, cord blood, milk teeth and rectal swabs. More than 107,000 children are continuously screened through questionnaires, referral, and a national registry. Cases are compared with a control group from the same cohort in a ‘nested case-control’ design. Early screening and diagnostic assessments and re-assessments are designed to provide a rich view of longitudinal trajectory. Genetic, proteomic, immunologic, metagenomic and microbiological tools will be used to exploit unique biological samples. The ABC is a paradigm for analyzing the role of genetic and environmental factors in complex disorders.
9. Wiwanitkit V. {{Thai massage and autism: correlation?}}. {J Altern Complement Med} (Jun);16(6):613; author reply 615.
