1. Bozkurt H, Ayaydin H, Adak I, Zoroglu SS. {{Risperidone-induced paroxysmal perceptual alteration in a child with autism}}. {J Child Adolesc Psychopharmacol};2012 (Dec);22(6):470-471.
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2. Conde V, Palomar FJ, Lama MJ, Martinez R, Carrillo F, Pintado E, Mir P. {{Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation}}. {J Neurophysiol};2012 (Dec 12)
The fragile X syndrome is a mutation-driven developmental disorder caused by a repetition over 200 times of the CGG trinucleotide situated in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). The interval between 55 to 199 CGG repeats, which is over the normal range but below full mutation, is named fragile X premutation. Recent studies have focused on the asymptomatic state of fragile X premutation carriers and their potentially relevant pre-clinical features. However, the underlying neurological mechanisms leading to altered functions in fragile X premutation carriers are still poorly understood. In this study we wanted to test the hypothesis that asymptomatic women who carry the fragile X premutation present GABAergic and cerebellar abnormalities when compared to healthy women without the premutation. We performed non-invasive brain stimulation protocols on both asymptomatic fragile X premutation carriers and controls comprising of measures of GABAA- and GABAB-mediated intracortical inhibition, afferent inhibition and cerebello-motor functional interactions. Premutation carriers presented an absence of cerebellar inhibition over primary motor cortex as well as a reduced GABAA-mediated intracortical and afferent inhibition when compared to healthy non-premutated controls. These alterations are most probably dependent on a dysfunctional GABAergic mechanism associated with the fragile X premutation condition as previously found in CGG-repeat animal models. Furthermore, the lack of cerebello-motor inhibition could be related to the cerebellar structural abnormalities previously found in carriers of the premutation.
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3. Crunkhorn S. {{Neurological disorders: Targeting translation in autism}}. {Nat Rev Drug Discov};2012 (Dec 14)
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4. Falter CM, Braeutigam S, Nathan R, Carrington S, Bailey AJ. {{Enhanced Access to Early Visual Processing of Perceptual Simultaneity in Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Dec 14)
We compared judgements of the simultaneity or asynchrony of visual stimuli in individuals with autism spectrum disorders (ASD) and typically-developing controls using Magnetoencephalography (MEG). Two vertical bars were presented simultaneously or non-simultaneously with two different stimulus onset delays. Participants with ASD distinguished significantly better between real simultaneity (0 ms delay between two stimuli) and apparent simultaneity (17 ms delay between two stimuli) than controls. In line with the increased sensitivity, event-related MEG activity showed increased differential responses for simultaneity versus apparent simultaneity. The strongest evoked potentials, observed over occipital cortices at about 130 ms, were correlated with performance differences in the ASD group only. Superior access to early visual brain processes in ASD might underlie increased resolution of visual events in perception.
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5. Jayaseelan S, Tenenbaum SA. {{Neurodevelopmental disorders: Signalling pathways of fragile X syndrome}}. {Nature};2012 (Dec 12)
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6. McMahon CM, Vismara LA, Solomon M. {{Measuring Changes in Social Behavior During a Social Skills Intervention for Higher-Functioning Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Dec 14)
The social behavior of children and adolescents with Autism Spectrum Disorder was evaluated weekly over 19 weeks of a social skills training program. Participants’ vocalizations were coded as initiating, responding, or other (e.g., self-talk). Participants’ interactions were coded as dyadic peer interactions, dyadic leader interactions, interactions with a group of peers, interactions with a group of peer(s) and leader(s), or time spent by self. Over the course of the intervention, participants made fewer initiating and other vocalizations, more responding vocalizations, spent more time interacting with a group of peers, and spent marginally less time interacting with a leader. Gender, age, and intervention attendance effects on social behavior are also noted.
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7. Nylander L, Holmqvist M, Gustafson L, Gillberg C. {{Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in adult psychiatry. A 20-year register study}}. {Nord J Psychiatry};2012 (Dec 12)
Nylander L, Holmqvist M, Gustafson L, Gillberg C. Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in adult psychiatry. A 20-year register study. Nord J Psychiatry 2012;Early Online:1-7 Objective: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are increasingly recognized in adults. This study aimed to assess trends in diagnostic practice, diagnostic delay and comorbidity regarding ADHD and ASD in adult psychiatric patients. Methods: Individuals with diagnosed ADHD or ASD were identified in an adult psychiatry register comprising 56,462 patients. Results: ADHD was diagnosed in up to 2.7% and ASD in 1.3% of the patients. Most cases were diagnosed within 2 years of first contact with adult psychiatry, but some patients were treated for 10 years or more before being diagnosed with ADHD or ASD. Seventy per cent of ADHD and 56% of ASD patients were treated as outpatients only. Other psychiatric diagnoses were registered in about 60%. Affective disorders were common in patients with ADHD. Psychoses and intellectual disability were more common in ASD patients. Psychoactive substance use-related disorders were considerably more common in those with ADHD. Concomitant ADHD and ASD were seldom diagnosed in this clinical material. Conclusion: ADHD and ASD were probably much underdiagnosed in the studied group of psychiatric patients. Other psychiatric diagnoses were common, but not ADHD with concomitant ASD.
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8. Pettygrove S, Pinborough-Zimmerman J, John Meaney F, Van Naarden Braun K, Nicholas J, Miller L, Miller J, Rice C. {{Predictors of Ascertainment of Autism Spectrum Disorders Across Nine US Communities}}. {J Autism Dev Disord};2012 (Dec 14)
Autism spectrum disorders (ASD) prevalence estimates derived from a single data source under-identify children and provide a biased profile of case characteristics. We analyzed characteristics of 1,919 children with ASD identified by the Autism and Developmental Disabilities Monitoring Network. Cases ascertained only at education sources were compared to those identified at health sources. 38 % were education-only. These were older at their earliest evaluation (54.5 vs. 42.0 months, p < 0.001) and earliest ASD diagnosis (62 vs. 53 months, p < 0.001). More lived in census blocks with lower adult education (p < 0.001). Lower educational attainment of adults in census blocks of residence of education-only cases suggests disparities in access to clinical services with the schools providing crucial services to many families.
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9. Ren S, Ma HW, Hu M, Wang LB, Wang L, Li F, Song Y, Tan YH. {{[Clinical application of M-CHAT and CHAT-23 for autism screening]}}. {Zhongguo Dang Dai Er Ke Za Zhi};2012 (Dec);14(12):946-950.
OBJECTIVE: To analyze and compare Modified Checklist for Autism in Toddlers (M-CHAT) and Checklist for Autism in Toddlers-23 (CHAT-23) in terms of clinical applicability, and to provide a basis for the understanding of early specific clinical manifestations of children with autism. METHODS: A total of 350 children aged 18-36 months who visited the Department of Developmental Pediatrics of Shengjing Hospital of China Medical University were enrolled as subjects. Of the 350 children, 284 who had not been previously diagnosed with autism were screened according to the two checklists. Sixty-eight confirmed cases of autism (including two of the 284 screening subjects diagnosed with autism) were assigned to the autism group, and 278 of the 284 screening subjects (except six children diagnosed with autism, mental retardation or cerebral palsy) were assigned to the control group. The two groups were compared with respect to the positive rate for each item in the checklists. The efficacy of the M-CHAT and CHAT-23 assessment criteria was evaluated by comparative analysis. RESULTS: The autism group showed the highest positive rate for Item 9. There were significant differences between the two groups in terms of the positive rates for all items except Item 16 (P<0.05). When the assessment criterion was that autism was confirmed if there were positive results for at least 3 of a total of 23 items, M-CHAT showed the lowest rate of missed diagnosis (0%); when the assessment criterion was that autism was confirmed if there were positive results for at least 6 of a total of 23 items, CHAT-23 showed the lowest rate of misdiagnosis (1.77%). The specificity of M-CHAT is lower than that of CHAT-23 (P<0.05). There was no significant difference in sensitivity between the two checklists (P>0.05). CONCLUSIONS: CHAT-23 is more suitable than M-CHAT for clinical autism screening due to higher specificity, as well as having the advantages of low cost, easy completion,high efficiency and easy result judgment.
10. Roke Y, Buitelaar JK, Boot AM, Tenback D, van Harten PN. {{Risk of hyperprolactinemia and sexual side effects in males 10-20 years old diagnosed with autism spectrum disorders or disruptive behavior disorder and treated with risperidone}}. {J Child Adolesc Psychopharmacol};2012 (Dec);22(6):432-439.
Abstract Objective: The aim of this study was to investigate the long-term treatment effects of risperidone on prolactin levels and prolactin-related side effects in pubertal boys with autism spectrum disorders (ASD) and disruptive behavior disorders (DBD). Method: Physical healthy 10-20-year-old males with ASD (n=89) and/ or DBD (n=9) chronically treated (mean 52 months, range 16-126 months) with risperidone (group 1, n=51) or not treated with any antipsychotic (group 2, n=47) were recruited to this observational study from the child psychiatry outpatient clinic. Morning non-fasting serum prolactin levels were measured and prolactin-related side effects were assessed by means of questionnaires and physical examination. Group differences were tested with Student’s t, chi(2), Fisher exact, and Mann-Whitney tests, and logistic regression analysis, according to the type and distribution of data. Results: Hyperprolactinemia was present in 47% of subjects in group 1 but only in 2% of subjects in group 2 (odds ratio 71.9; 95% CI, 7.7; 676.3). Forty-six percent of subjects in group1 had asymptomatic hyperprolactinemia. Current risperidone dose and 9-OH risperidone plasma level were significant predictors of hyperprolactinemia (p=0.035 and p=0.03, respectively). Gynecomastia and sexual dysfunction were present in 43% and 14% of the subjects in group1, respectively, compared with 21% and 0% of subjects in group 2 (p=0.05 and p=0.01). Gynecomastia was not significantly associated with hyperprolactinemia. Conclusions: Hyperprolactinemia is a common side effect in young males treated over the long term with risperidone. Young males treated with risperidone are more likely to report diminished sexual functioning than are those not treated with antipsychotics.
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11. Wang IT, Allen M, Goffin D, Zhu X, Fairless AH, Brodkin ES, Siegel SJ, Marsh ED, Blendy JA, Zhou Z. {{Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice}}. {Proc Natl Acad Sci U S A};2012 (Dec 10)
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in neurodevelopmental disorders including atypical Rett syndrome (RTT), autism spectrum disorders (ASDs), and early infantile epileptic encephalopathy. The biological function of CDKL5 and its role in the etiology of these disorders, however, remain unclear. Here we report the development of a unique knockout mouse model of CDKL5-related disorders and demonstrate that mice lacking CDKL5 show autistic-like deficits in social interaction, as well as impairments in motor control and fear memory. Neurophysiological recordings reveal alterations in event-related potentials (ERPs) similar to those observed in RTT and ASDs. Moreover, kinome profiling uncovers disruption of multiple signal transduction pathways, including the AKT-mammalian target of rapamycin (mTOR) cascade, upon Cdkl5 loss-of-function. These data demonstrate that CDKL5 regulates signal transduction pathways and mediates autistic-like phenotypes and together establish a causal role for Cdkl5 loss-of-function in neurodevelopmental disorders.
