1. Zeglam AM, Maound AJ. {{Prevalence of autistic spectrum disorders in Tripoli, Libya: the need for more research and planned services}}. {East Mediterr Health J};2012 (Feb);18(2):184-188.
Data on autism are lacking for Libya. We conducted a hospital-based study in the Neurodevelopment Clinic of AI-Khadra Hospital in Tripoli to estimate the prevalence of autistic spectrum disorders in children attending the clinic. All children referred to the clinic between 2005 and 2009 with a diagnosis of speech and language disorders or behavioural difficulties were assessed. There were 38 508 children in total seen during 2005-09,180 of whom had a history of delayed speech and language and/or behavioural difficulties. Of the 180, 128 children were diagnosed with autistic spectrum disorder: 99 had classical autism, giving the prevalence of about 4 in 1000. The male:female ratio for autistic spectrum disorders was 4:1 and for autism was 4.5:1. The most common age at presentation was 2-5 years (58%) and 56% presented 6-18 months after the onset of symptoms. Physicians should consider autism in the differential diagnosis of any child presenting with a speech and language disorder and/or behavioural difficulties.
2. Yates D. {{Neurogenetics: Unravelling the genetics of autism}}. {Nat Rev Neurosci};2012 (May 10)
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3. Yang M, Bozdagi O, Scattoni ML, Wohr M, Roullet FI, Katz AM, Abrams DN, Kalikhman D, Simon H, Woldeyohannes L, Zhang JY, Harris MJ, Saxena R, Silverman JL, Buxbaum JD, Crawley JN. {{Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent shank3 null mutant mice}}. {J Neurosci};2012 (May 9);32(19):6525-6541.
Mutations in the synaptic scaffolding protein gene SHANK3 are strongly implicated in autism and Phelan-McDermid 22q13 deletion syndrome. The precise location of the mutation within the Shank3 gene is key to its phenotypic outcomes. Here, we report the physiological and behavioral consequences of null and heterozygous mutations in the ankyrin repeat domain in Shank3 mice. Both homozygous and heterozygous mice showed reduced glutamatergic transmission and long-term potentiation in the hippocampus with more severe deficits detected in the homozygous mice. Three independent cohorts were evaluated for magnitude and replicability of behavioral endophenotypes relevant to autism and Phelan-McDermid syndrome. Mild social impairments were detected, primarily in juveniles during reciprocal interactions, while all genotypes displayed normal adult sociability on the three-chambered task. Impaired novel object recognition and rotarod performance were consistent across cohorts of null mutants. Repetitive self-grooming, reduced ultrasonic vocalizations, and deficits in reversal of water maze learning were detected only in some cohorts, emphasizing the importance of replication analyses. These results demonstrate the exquisite specificity of deletions in discrete domains within the Shank3 gene in determining severity of symptoms.
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4. Steiner AM, Gengoux GW, Klin A, Chawarska K. {{Pivotal Response Treatment for Infants At-Risk for Autism Spectrum Disorders: A Pilot Study}}. {J Autism Dev Disord};2012 (May 10)
Presently there is limited research to suggest efficacious interventions for infants at-risk for autism. Pivotal response treatment (PRT) has empirical support for use with preschool children with autism, but there are no reports in the literature utilizing this approach with infants. In the current study, a developmental adaptation of PRT was piloted via a brief parent training model with three infants at-risk for autism. Utilizing a multiple baseline design, the data suggest that the introduction of PRT resulted in increases in the infants’ frequency of functional communication and parents’ fidelity of implementation of PRT procedures. Results provide preliminary support for the feasibility and utility of PRT for very young children at-risk for autism.
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5. Qiu S, Aldinger KA, Levitt P. {{Modeling of Autism Genetic Variations in Mice: Focusing on Synaptic and Microcircuit Dysfunctions}}. {Dev Neurosci};2012 (May 8)
Autism spectrum disorders (ASD) are heterogeneous neurodevelopmental disorders that are characterized by deficits in social interaction, verbal and nonverbal communication, and restrictive interests and repetitive behaviors. While human genetic studies have revealed marked heritability in ASD, it has been challenging to translate this genetic risk into a biological mechanism that influences brain development relevant to the disorder phenotypes. This is partly due to the complex genetic architecture of ASD, which involves de novo gene mutations, genomic abnormalities, and common genetic variants. Rather than trying to reconstitute the clinical disorder, using genetic model animals to examine specific features of core ASD pathophysiology offers unique opportunities for refining our understanding of neurodevelopmental mechanisms in ASD. A variety of ASD-relevant phenotypes can now be investigated in rodents, including stereotyped and repetitive behaviors, and deficits in social interaction and communication. In this review, we focus on several prevailing mouse models and discuss how studies have advanced our understanding of synaptic mechanisms that may underlie ASD pathophysiology. Although synaptic perturbations are not the only alterations relevant for ASD, we reason that understanding the synaptic underpinnings of ASD using mouse models may provide mechanistic insights into its etiology and lead to novel therapeutic and interventional strategies.
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6. Perry A. {{Autism beyond pediatrics: why bioethicists ought to rethink consent in light of chronicity and genetic identity}}. {Bioethics};2012 (Jun);26(5):236-241.
Autism is a chronic neurodevelopmental disorder that presents unique challenges to bioethicists. In particular, bioethicists ought to reconsider pediatric consent in light of disparity between beliefs that are held about the disorder by parents and adults with autism. The neurodiverse community ought to be given some consideration in this debate, and, as such, there may be a role for autistic narratives in clarifying this problem.
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7. Hunter JE, Leslie M, Novak G, Hamilton D, Shubeck L, Charen K, Abramowitz A, Epstein MP, Lori A, Binder E, Cubells JF, Sherman SL. {{Depression and anxiety symptoms among women who carry the FMR1 premutation: Impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms}}. {Am J Med Genet B Neuropsychiatr Genet};2012 (May 9)
The fragile X mental retardation gene, FMR1, contains a polymorphic CGG repeat in the 5′-untranslated region of exon 1. Once unstable, this repeat is capable of expansion across generations. Women who carry a premutation allele (55-199 repeats) are at risk of passing on a full mutation allele (>200 repeats) to their offspring. A full mutation leads to the most common form of inherited intellectual disability, fragile X syndrome (FXS). Mounting evidence suggests that premutation carriers may be vulnerable to symptoms of anxiety and depression. The goal of this study was to test the hypothesis that among women who carry a premutation, the stress of raising a child with FXS would be moderated by genetic factors influencing endogenous cortisol responses, which could in turn modulate anxiety and depression symptoms. To this end, we genotyped single nucleotide polymorphisms (SNPs) at the corticotrophin releasing hormone receptor 1 locus (CRHR1) in 460 women. Participants completed self-report questionnaires assessing symptoms of depression [Centers for Epidemiological Studies Depression Scale (CESD)], anxiety [State-Trait Anxiety Inventory (STAI) and Social Phobia and Anxiety Inventory (SPAI)], and mood [Positive and Negative Affect Schedule (PANAS)]. Results indicate a statistically significant interaction between CRHR1 genotype and the status of raising a child with FXS to predict social anxiety symptoms reported on the SPAI (rs7209436, P = 0.0001). Our data suggest that genetic variants in CRHR1 that associate with differential cortisol activation may also modulate levels of anxiety related to the stress of raising a child with FXS among women who carry an FMR1 premutation. (c) 2012 Wiley Periodicals, Inc.
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8. Ghanizadeh A. {{Hyperbaric oxygen therapy for treatment of children with autism: a systematic review of randomized trials}}. {Med Gas Res};2012 (May 11);2(1):13.
ABSTRACT: There is a controversy about the efficacy of hyperbaric oxygen (HBO) therapy for the treatment of autism. This study systematically reviews the current evidences for treating of autism with HBO therapy. According to PRISMA guidelines for a systematic review, the databases of MEDLINE/Pubmed, Google Scholar, and Randomised Controlled Trials in Hyperbaric Medicine were electronically searched. In addition, medical subject heading terms and text words for hyperbaric oxygen therapy and autism were used. The main inclusion criteria were published studies which reported the original data from the trials conducted on the patients with autism and assessed outcomes with a valid and reliable instrument. A quality assessment was also conducted. The electronically search resulted in 18 title of publications. Two studies were randomized, double-blind, controlled-clinical trials. While some uncontrolled and controlled studies suggested that HBO therapy is effective for the treatment of autism, these promising effects are not replicated. Therefore, sham-controlled studies with rigorous methodology are required to be conducted in order to provide scientific evidence-based HBO therapy for autism treatment.
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9. Fombonne E, Marcin C, Bruno R, Tinoco CM, Marquez CD. {{Screening for Autism in Mexico}}. {Autism Res};2012 (May 11)
In order to conduct the screening phase of the first epidemiological survey of autism spectrum disorders (ASDs) in Mexico, we needed a screening tool to detect autistic symptomatology in a large sample of school-age children. We used the Spanish version of the Social Responsiveness Scale (SRS). We recruited a clinical sample of 200 children (81% males; mean age: 7.4 years) with a confirmed diagnosis of ASDs and a sample of 363 control children (59.5% males; mean age: 8.5 years) without ASDs. Three-way analyses of variance (ANOVAs) identified a main effect of clinical status (ASDs vs. controls) for both parent and teacher scales, but no gender or age effect. The mean total and subscale raw scores were significantly different between the clinical and control groups for the parent and for the teacher SRS (P < 0.001). The internal consistency of the SRS was excellent. Receiver operating characteristic (ROC) analyses showed excellent discriminant validity of the SRS in the Mexican sample (area under the curve: 0.962 for the parent, 0.960 for the teacher). ROC curves were also used to determine which cutoff would provide the best trade-off between sensitivity and specificity. Mexican SRS scores were significantly higher than in the U.S. and German population for typically developing children but comparable for clinically referred subjects. The SRS is an acceptable screening instrument for epidemiological studies of ASDs in Mexico. Its psychometric properties are excellent and comparable to those derived from North American and other samples. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Dimitropoulos A, Ho A, Feldman B. {{Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (May 11)
Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has only more recently been systematically examined. Findings to date indicate the social impairment exhibited may reflect specific difficulty interpreting and using social information effectively. In addition, evidence suggests that there is an increased risk of social deficits in people with the maternally-derived uniparental disomy (mUPD) subtype of PWS in comparison to those with 15q11-13 paternal deletion (DEL). Using the Social Responsiveness Scale (SRS) and the Social Competence Inventory, our goal was to compare social functioning in PWS to individuals with autism spectrum disorder (ASD). Participants with mUPD scored similarly to the ASD group across most SRS domains. All groups had difficulty with social competence, although the DEL group scored highest on prosocial behavior. Findings suggest further characterization of social behavior in PWS is necessary to aid in advancing the understanding of the contributions of genes in the 15q11-13 critical region to ASD susceptibility, particularly with respect to the overexpression of maternally expressed genes in this region, as well as aiding in awareness and development/implementation of interventions.
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11. Akin L, Adal E, Akin MA, Kurtoglu S. {{A case of diabetes mellitus associated with Rett syndrome}}. {J Pediatr Endocrinol Metab};2012;25(1-2):197-198.
Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.
12. {{Abstracts of the European Academy of Childhood Disability 24th Annual Meeting. May 16-19, 2012. Istanbul, Turkey}}. {Dev Med Child Neurol};2012 (May);54 Suppl 3:1-66.
