1. Bejerot S, Eriksson JM, Bonde S, Carlstrom K, Humble MB, Eriksson E. {{The extreme male brain revisited: gender coherence in adults with autism spectrum disorder}}. {Br J Psychiatry};2012 (Apr 12)
BACKGROUND: The ‘extreme male brain’ theory suggests that autism spectrum disorder (ASD) is an extreme variant of male intelligence. However, somewhat paradoxically, many individuals with ASD display androgynous physical features regardless of gender. AIMS: To assess physical measures, supposedly related to androgen influence, in adults with and without ASD. METHOD: Serum hormone levels, anthropometry, the ratio of 2nd to 4th digit length (2D:4D) and psychiatric symptomatology were measured in 50 adults with high-functioning ASD and age- and gender-matched neurotypical controls. Photographs of face and body, as well as voice recordings, were obtained and assessed with respect to gender coherence, blindly and independently, by eight assessors. RESULTS: Women with ASD had higher total and bioactive testosterone levels, less feminine facial features and a larger head circumference than female controls. Men in the ASD group were assessed as having less masculine body characteristics and voice quality, and displayed higher (i.e. less masculine) 2D:4D ratios, but similar testosterone levels to controls. Androgynous facial features correlated strongly and positively with autistic traits measured with the Autism-Spectrum Quotient in the total sample. In males and females with ASD dehydroepiandrosterone sulfate did not decrease with age, in contrast to the control group. CONCLUSIONS: Women with ASD had elevated testosterone levels and several masculinised characteristics compared with controls, whereas men with ASD displayed several feminised characteristics. Our findings suggest that ASD, rather than being characterised by masculinisation in both genders, may constitute a gender defiant disorder.
Lien vers le texte intégral (Open Access ou abonnement)
2. Fisch GS. {{Nosology and epidemiology in autism: Classification counts}}. {Am J Med Genet C Semin Med Genet};2012 (Apr 12)
Since its initial description by Kanner in 1943, the criteria by which a diagnosis of autism or autism-like disorders was made-and their alleged etiologies portrayed-have undergone manifold changes, from a psychiatric disorder engendered by « refridgerator » parents to a neurodevelopmental disability produced in the main by genetic abnormalities. In addition, the behavioral characterization of autism has also entered the public consciousness and professional domains increasingly in the past 30 years, the effects of which we are continually coming to terms. A diagnosis of autism that once seemed quite unusual is now considered almost epidemic. Increasing numbers of individuals diagnosed with autism and related pervasive developmental disabilities will, in turn, affect the calculated prevalence of the disorder. In this essay, I attempt to account for the increasing prevalence of autism and autism-related disorders by examining its changing criteria, the individuals and instruments used to make the diagnosis, the reliability and validity of same, and the sample sizes and other aspects of the methodology needed to make an accurate estimate of its prevalence. (c) 2012 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
3. Gurrieri F. {{Working up autism: The practical role of medical genetics}}. {Am J Med Genet C Semin Med Genet};2012 (Apr 12)
The autism spectrum disorders (ASD) comprise a group of neurobehavioral phenotypes of heterogeneous etiology. In spite of a worldwide extensive research effort to unravel the genetic mystery of autism, medical geneticists are still facing an embarrassing lack of knowledge in dealing with the diagnosis, and consequently prognosis, of a child with autism. However, some lessons can be learned from accumulating experience in the clinical and molecular genetic evaluation of children with this condition. Patient evaluation, indications for molecular testing and counseling are the three aspects that will be discussed in this review. (c) 2012 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
4. Hallerback MU, Lugnegard T, Gillberg C. {{ADHD and Nicotine Use in Schizophrenia and Asperger Syndrome: A Controlled Study}}. {J Atten Disord};2012 (Apr 12)
Objective: To examine ADHD prevalence, rating scales, and relationship to nicotine use in adults with schizophrenia or Asperger syndrome. Method: Ninety-five individuals, 41 with schizophrenia and 54 with Asperger syndrome, were included. Self-rating of adult ADHD symptoms with the Wender-Reimherr Adult Attention Deficit Diagnostic Rating Scale (WRAADDS), parent rating of proband’s ADHD childhood and adult life symptoms using the Swanson, Nolan, and Pelham Questionnaire (SNAP), and report of clinical ADHD diagnosis were included as ADHD measures. Nicotine use data were compared with data from a population sample. Results: In all, 10% of the schizophrenia group and 30% of the Asperger syndrome group had a clinical ADHD diagnosis. Nicotine dependency in the whole sample was closely linked to ADHD. Conclusion: The prevalence of comorbid ADHD was high in schizophrenia and Asperger syndrome. The WRAADDS self-rating scale for ADHD can be one useful tool for assessing comorbid ADHD in these patient groups. (J. of Att. Dis. 2012; XX(X) 1-XX).
Lien vers le texte intégral (Open Access ou abonnement)
5. Hu VW. {{From Genes to Environment: Using Integrative Genomics to Build a « Systems-Level » Understanding of Autism Spectrum Disorders}}. {Child Dev};2012 (Apr 12)
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that affect an estimated 1 in 110 individuals. Although there is a strong genetic component associated with these disorders, this review focuses on the multifactorial nature of ASD and how different genome-wide (genomic) approaches contribute to our understanding of autism. Emphasis is placed on the need to study defined ASD phenotypes as well as to integrate large-scale « omics » data in order to develop a « systems-level » perspective of ASD, which in turn is necessary to allow predictions regarding responses to specific perturbations and interventions.
Lien vers le texte intégral (Open Access ou abonnement)
6. Kou Y, Betancur C, Xu H, Buxbaum JD, Ma’ayan A. {{Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability}}. {Am J Med Genet C Semin Med Genet};2012 (Apr 12)
Autism spectrum disorders (ASD) are a group of related neurodevelopmental disorders with significant combined prevalence ( approximately 1%) and high heritability. Dozens of individually rare genes and loci associated with high-risk for ASD have been identified, which overlap extensively with genes for intellectual disability (ID). However, studies indicate that there may be hundreds of genes that remain to be identified. The advent of inexpensive massively parallel nucleotide sequencing can reveal the genetic underpinnings of heritable complex diseases, including ASD and ID. However, whole exome sequencing (WES) and whole genome sequencing (WGS) provides an embarrassment of riches, where many candidate variants emerge. It has been argued that genetic variation for ASD and ID will cluster in genes involved in distinct pathways and protein complexes. For this reason, computational methods that prioritize candidate genes based on additional functional information such as protein-protein interactions or association with specific canonical or empirical pathways, or other attributes, can be useful. In this study we applied several supervised learning approaches to prioritize ASD or ID disease gene candidates based on curated lists of known ASD and ID disease genes. We implemented two network-based classifiers and one attribute-based classifier to show that we can rank and classify known, and predict new, genes for these neurodevelopmental disorders. We also show that ID and ASD share common pathways that perturb an overlapping synaptic regulatory subnetwork. We also show that features relating to neuronal phenotypes in mouse knockouts can help in classifying neurodevelopmental genes. Our methods can be applied broadly to other diseases helping in prioritizing newly identified genetic variation that emerge from disease gene discovery based on WES and WGS. (c) 2012 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
7. Pavone V, Pratico AD, Parano E, Pavone P, Verrotti A, Falsaperla R. {{Spine and brain malformations in a patient obligate carrier of MTHFR with autism and mental retardation}}. {Clin Neurol Neurosurg};2012 (Apr 10)
Lien vers le texte intégral (Open Access ou abonnement)
8. Schwartz CE, Neri G. {{Autism and intellectual disability: Two sides of the same coin}}. {Am J Med Genet C Semin Med Genet};2012 (Apr 12)
Lien vers le texte intégral (Open Access ou abonnement)
9. Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, Tassone F. {{AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome}}. {Genet Med};2012 (Apr 12)
Purpose:The ability to accurately predict the likelihood of expansion of the CGG repeats in the FMR1 gene to a full mutation is of critical importance for genetic counseling of women who are carriers of premutation alleles (55-200 CGG repeats) and who are weighing the risk of having a child with fragile X syndrome. The presence of AGG interruptions within the CGG repeat tract is thought to decrease the likelihood of expansion to a full mutation during transmission, thereby reducing risk, although their contribution has not been quantified.Methods:We retrospectively analyzed 267 premutation alleles for number and position of AGG interruptions, length of pure CGG repeats, and CGG repeat lengths present in the offspring of the maternal transmissions. In addition, we determined the haplotypes of four markers flanking the 5′-UTR locus in the premutation mothers.Results:We found that the presence of AGG interruptions significantly increased genetic stability, whereas specific haplotypes had a marginal association with transmission instability.Conclusion:The presence of AGG interruptions reduced the risk of transmission of a full mutation for all maternal (premutation) repeat lengths below ~100 CGG repeats, with a differential risk (0 vs. 2 AGG) exceeding 60% for alleles in the 70- to 80-CGG repeat range.Genet Med advance online publication 12 April 2012.
Lien vers le texte intégral (Open Access ou abonnement)
10. Zappella M. {{Reversible autism and intellectual disability in children}}. {Am J Med Genet C Semin Med Genet};2012 (Apr 12)
Studies on young children with reversible autism and intellectual disability are discussed. Present evidence suggests a clear cause in a minority of cases including early institutionalization, Landau and Kleffner syndrome, and other early onset epilepsies, intrauterine rubella, and blindness. The majority of cases have normal laboratory results and some have early onset Tourette syndrome. Preliminary data of a follow-up study of this last group are reported in 15 patients suggesting the possibility of two subgroups, one represented by early onset Tourette syndrome phenotype, characterized by a positive family history, and by its appearance at the same time as regression and persistence into adolescence while the other of a different nature. Genetic studies could be of help to clarify this issue and support a diagnosis of favorable outcome in young children. (c) 2012 Wiley Periodicals, Inc.
