1. {{Valproate in pregnancy linked to autism in children}}. {BMJ};2013;346:f2602.
2. Badia M, Orgaz MB, Verdugo MA, Ullan AM, Martinez M. {{Relationships between Leisure Participation and Quality of Life of People with Developmental Disabilities}}. {J Appl Res Intellect Disabil};2013 (Apr 24)
BACKGROUND: Studies of people with developmental disabilities suggest that participation in leisure activities might be a key factor for good quality of life. This study explores the relationships between objective and subjective quality of life and leisure participation of adults with developmental disabilities. MATERIALS AND METHODS: A cross-sectional design was used with a convenience sample of 125 people, aged 17-65, living in the community. Participants completed the subjective scale of Integral Quality Scale and the Leisure Assessment Inventory in the form of an individual interview. Staff completed the GENCAT Scale. RESULTS: No relationship was found between objective quality of life and leisure participation. However, correlations between some leisure participation dimensions and specific subjective quality of life domains were observed. The results establish a predictive relationship between leisure participation and material, emotional, and physical well-being. Personal and environmental variables analyzed were not found to have a moderating effect on the relationship between leisure participation and quality of life. CONCLUSIONS: These findings indicate that some aspects of leisure participation may significantly contribute to enhancing the quality of life of young people and adults with developmental disabilities living in the community.
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3. Bauminger-Zviely N, Eden S, Zancanaro M, Weiss PL, Gal E. {{Increasing social engagement in children with high-functioning autism spectrum disorder using collaborative technologies in the school environment}}. {Autism};2013 (Apr 24)
This study examined the effectiveness of a school-based, collaborative technology intervention combined with cognitive behavioral therapy to teach the concepts of social collaboration and social conversation to children with high-functioning autism spectrum disorders (n = 22) as well as to enhance their actual social engagement behaviors (collaboration and social conversation) with peers. Two computer programs were included in the intervention: « Join-In » to teach collaboration and « No-Problem » to teach conversation. Assessment in the socio-cognitive area included concept perception measures, problem solving, Theory of Mind, and a dyadic drawing collaborative task to examine change in children’s social engagement. Results demonstrated improvement in the socio-cognitive area with children providing more active social solutions to social problems and revealing more appropriate understanding of collaboration and social conversation after intervention, with some improvement in Theory of Mind. Improvement in actual social engagement was more scattered.
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4. Christensen J, Gronborg TK, Sorensen MJ, Schendel D, Parner ET, Pedersen LH, Vestergaard M. {{Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism}}. {JAMA};2013 (Apr 24);309(16):1696-1703.
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment option for women of childbearing potential. However, prenatal exposure to valproate may increase the risk of autism. OBJECTIVE: To determine whether prenatal exposure to valproate is associated with an increased risk of autism in offspring. DESIGN, SETTING, AND PARTICIPANTS: Population-based study of all children born alive in Denmark from 1996 to 2006. National registers were used to identify children exposed to valproate during pregnancy and diagnosed with autism spectrum disorders (childhood autism [autistic disorder], Asperger syndrome, atypical autism, and other or unspecified pervasive developmental disorders). We analyzed the risks associated with all autism spectrum disorders as well as childhood autism. Data were analyzed by Cox regression adjusting for potential confounders (maternal age at conception, paternal age at conception, parental psychiatric history, gestational age, birth weight, sex, congenital malformations, and parity). Children were followed up from birth until the day of autism spectrum disorder diagnosis, death, emigration, or December 31, 2010, whichever came first. MAIN OUTCOMES AND MEASURES: Absolute risk (cumulative incidence) and the hazard ratio (HR) of autism spectrum disorder and childhood autism in children after exposure to valproate in pregnancy. RESULTS: Of 655,615 children born from 1996 through 2006, 5437 were identified with autism spectrum disorder, including 2067 with childhood autism. The mean age of the children at end of follow-up was 8.84 years (range, 4-14; median, 8.85). The estimated absolute risk after 14 years of follow-up was 1.53% (95% CI, 1.47%-1.58%) for autism spectrum disorder and 0.48% (95% CI, 0.46%-0.51%) for childhood autism. Overall, the 508 children exposed to valproate had an absolute risk of 4.42% (95% CI, 2.59%-7.46%) for autism spectrum disorder (adjusted HR, 2.9 [95% CI, 1.7-4.9]) and an absolute risk of 2.50% (95% CI, 1.30%-4.81%) for childhood autism (adjusted HR, 5.2 [95% CI, 2.7-10.0]). When restricting the cohort to the 6584 children born to women with epilepsy, the absolute risk of autism spectrum disorder among 432 children exposed to valproate was 4.15% (95% CI, 2.20%-7.81%) (adjusted HR, 1.7 [95% CI, 0.9-3.2]), and the absolute risk of childhood autism was 2.95% (95% CI, 1.42%-6.11%) (adjusted HR, 2.9 [95% CI, 1.4-6.0]) vs 2.44% (95% CI, 1.88%-3.16%) for autism spectrum disorder and 1.02% (95% CI, 0.70%-1.49%) for childhood autism among 6152 children not exposed to valproate. CONCLUSIONS AND RELEVANCE: Maternal use of valproate during pregnancy was associated with a significantly increased risk of autism spectrum disorder and childhood autism in the offspring, even after adjusting for maternal epilepsy. For women of childbearing potential who use antiepileptic medications, these findings must be balanced against the treatment benefits for women who require valproate for epilepsy control.
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5. Gentile I, Zappulo E, Militerni R, Pascotto A, Borgia G, Bravaccio C. {{Etiopathogenesis of autism spectrum disorders: Fitting the pieces of the puzzle together}}. {Med Hypotheses};2013 (Apr 24)
Autism spectrum disorders (ASD) are disorders of the central nervous system characterized by impairments in communication and social reciprocity. Despite thousands of studies on this topic, the etiopathogenesis of these disorders remains unclear, apart from a general belief that they derive from an interaction between several genes and the environment. Given the mystery surrounding the etiopathogenesis of ASD it is impossible to plan effective preventive and treatment measures. This is of particular concern due to the progressive increase in the prevalence of ASD, which has reached a figure as high as 1:88 children in the USA. Here we present data corroborating a novel unifying hypothesis of the etiopathogenesis of ASD. We suggest that ASD are disorders of the immune system that occur in a very early phase of embryonic development. In a background of genetic predisposition and environmental predisposition (probably vitamin D deficiency), an infection (notably a viral infection) could trigger a deranged immune response which, in turn, results in damage to specific areas of the central nervous system. If proven, this hypothesis would have dramatic consequences for strategies aimed at preventing and treating ASD. To confirm or refute this hypothesis, we need a novel research approach, which unlike former approaches in this field, examine the major factors implicated in ASD (genetic, infections, vitamin D deficiency, immune system deregulation) not separately, but collectively and simultaneously.
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6. Huynh PN, Gathright MM, Holmes KJ, Coffey DB. {{Worsening psychosis after Fever of unknown origin in an adolescent boy with autism}}. {J Child Adolesc Psychopharmacol};2013 (Apr);23(3):224-227.
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7. Laszlo A, Novak Z, Szollosi-Varga I, Hai du Q, Vetro A, Kovacs A. {{Blood lipid peroxidation, antioxidant enzyme activities and hemorheological changes in autistic children}}. {Ideggyogy Sz};2013 (Jan 30);66(1-2):23-28.
OBJECTIVES: Early infantile autism is a severe form of childhood psychiatric disease with characteristic symptoms. Hyperserotoninaemia in 43.5%, lactic acidosis 43% and hyperpyruvataemia in 30% were biochemically demonstrated in autistic children. Our earlier results led to the postulation that a dissequilibrium in the blood redox is involved in infantile autism; the oxidative loading and the antioxidant defending enzyme system were investigated together with the hemorheological parameters in infantile autism. METHODS: Malonyl-dialdehyde (MDA) endproduct of lipid peroxidation and activities of the antioxidant enzymes: superoxide dismutase (SOD), catalase (C-ase), glutathione peroxidase (GP-ase) and reduced glutathione (GSH) were biochemically determined from plasma and red blood cells. PATIENTS: The antioxidant specificities were investigated in plasma and red blood cell haemolysate from 25 infantile autistic children. RESULTS: Significantly increased superoxide dismutase (SOD) (2.89 vs. 1.32 U/mg protein, p < 0.01) and decreased glutathione peroxidase (0.620 vs. 0.910 U/mg protein, p < 0.01) levels as well as catalase (0.463 vs. 4.948 BU/mg protein, p < 0.001) activities were detected; while the plasma and erythrocyte lipid peroxidation and the reduced glutathione (GSH) levels did not change. The results of the investigated prooxidant and the antioxidant status provide evidence that there exists an oxidative stress in children with infantile autism. While investigating the hemorheological parameters of 25 infantile autistic patients, some characteristic pathological parameters were detected: the initial filtration rate (Fi) (0.72 vs. 0.75 p < 0.01) and the clogging rate (CR) (1.926 vs. 2.912, p < 0.01) values of red blood cells (RBC) decreased while the mean transit time (Tc) (8.93 vs. 7.39, p < 0.001) increased suggesting reduced RBC deformability.
8. Meador KJ, Loring DW. {{Risks of in utero exposure to valproate}}. {JAMA};2013 (Apr 24);309(16):1730-1731.
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9. Parsons S, Charman T, Faulkner R, Ragan J, Wallace S, Wittemeyer K. {{Commentary – bridging the research and practice gap in autism: The importance of creating research partnerships with schools}}. {Autism};2013 (Apr 24)
While the last 10 years have seen a significant increase in research published on early intervention and autism, there is a persistent disconnect between educational research and practice. Governments have invested significant funds in autism education, and a range of approaches have been implemented in schools, but there is limited research exploring whether these educational strategies are effective and a lack of involvement of teaching professionals in the research. Given that the majority of children and young people with autism spend most of their time in school and not in early or specialised intervention programmes, there is a compelling need to conduct better educational research and implement educational interventions in schools. We argue that building collaborative partnerships between researchers and school practitioners is central to achieving improved understanding of, and outcomes for, pupils on the autism spectrum. This commentary offers perspectives from teachers about their experiences of, and priorities for, research, and also presents a model of collaboration between autism school practitioners and researchers, which could support a more integrated approach to research. We reflect on the strengths and challenges of this as well as outcomes achieved so far.
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10. Taddei S, Contena B. {{Brief Report: Cognitive Performance in Autism and Asperger’s Syndrome: What are the Differences?}}. {J Autism Dev Disord};2013 (Apr 23)
Autism spectrum disorders include autistic and Asperger’s Syndrome (AS), often studied in terms of executive functions (EF), with controversial results. Using Planning Attention Simultaneous Successive theory (PASS; Das et al. in Assessment of cognitive processes: the PASS theory of intelligence. Allyn and Bacon, Boston, MA, 1994), this research compares the cognitive profiles obtained by the Cognitive Assessment System (CAS; Naglieri and Das in Cognitive assessment system. Riverside, Itasca, IL, 1997) of 15 subjects with typical development, 18 with autistic disorder and 20 with AS. Results highlight lower profiles for children with autistic and AS compared with typical development and even lower Planning and Attention processes for the group with autistic disorders than that with Asperger’s. Subjects with Asperger’s diagnosis do not differ from those with typical development as regards Simultaneous and Successive processes. Results are discussed in the light of current studies about EF.
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11. Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY. {{Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth}}. {Hum Mol Genet};2013 (Apr 24)
Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID family we reported in 2004. Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing of familial cases of XLID or in the context of routine array-CGH evaluation of sporadic ID cases. The c.186delC and c.3597dupA KIAA2022 truncating mutations were identified by X-chromosome exome sequencing, while array-CGH discovered a 70kb microduplication encompassing KIAA2022 exon 1 in the third family. This duplication decreased KIAA2022 mRNA level in patients’ lymphocytes by 60%. Detailed clinical examination of all patients, including the two initially reported, indicated moderate to severe ID with autistic features, strabismus in all patients, with no specific dysmorphic features other than a round face in infancy, and no structural brain abnormalities on MRI. Interestingly, the patient with decreased KIAA2022 expression had only mild ID with severe language delay and repetitives behaviors falling in the range of an autism dpectrum disorder. Since little is known on KIAA2022 function, we conducted morphometric studies in cultured rat hippocampal neurons. We found that siRNA-mediated KIAA2022 knockdown resulted in marked impairment in neurite outgrowth including both the dendrites and the axons, suggesting a major role for KIAA2022 in neuron development and brain function.
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12. Vislay RL, Martin BS, Olmos-Serrano JL, Kratovac S, Nelson DL, Corbin JG, Huntsman MM. {{Homeostatic responses fail to correct defective amygdala inhibitory circuit maturation in fragile x syndrome}}. {J Neurosci};2013 (Apr 24);33(17):7548-7558.
Fragile X syndrome (FXS) is a debilitating neurodevelopmental disorder thought to arise from disrupted synaptic communication in several key brain regions, including the amygdala, a central processing center for information with emotional and social relevance. Recent studies reveal defects in both excitatory and inhibitory neurotransmission in mature amygdala circuits in Fmr1(-/y) mutants, the animal model of FXS. However, whether these defects are the result of altered synaptic development or simply faulty mature circuits remains unknown. Using a combination of electrophysiological and genetic approaches, we show the development of both presynaptic and postsynaptic components of inhibitory neurotransmission in the FXS amygdala is dynamically altered during critical stages of neural circuit formation. Surprisingly, we observe that there is a homeostatic correction of defective inhibition, which, despite transiently restoring inhibitory synaptic efficacy to levels at or beyond those of control, ultimately fails to be maintained. Using inhibitory interneuron-specific conditional knock-out and rescue mice, we further reveal that fragile X mental retardation protein function in amygdala inhibitory microcircuits can be segregated into distinct presynaptic and postsynaptic components. Collectively, these studies reveal a previously unrecognized complexity of disrupted neuronal development in FXS and therefore have direct implications for establishing novel temporal and region-specific targeted therapies to ameliorate core amygdala-based behavioral symptoms.
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13. Wong C. {{A play and joint attention intervention for teachers of young children with autism: A randomized controlled pilot study}}. {Autism};2013 (Apr 22)
The aim of this study was to pilot test a classroom-based intervention focused on facilitating play and joint attention for young children with autism in self-contained special education classrooms. Thirty-three children with autism between the ages of 3 and 6 years participated in the study with their classroom teachers (n = 14). The 14 preschool special education teachers were randomly assigned to one of three groups: (1) symbolic play then joint attention intervention, (2) joint attention then symbolic intervention, and (3) wait-list control period then further randomized to either group 1 or group 2. In the intervention, teachers participated in eight weekly individualized 1-h sessions with a researcher that emphasized embedding strategies targeting symbolic play and joint attention into their everyday classroom routines and activities. The main child outcome variables of interest were collected through direct classroom observations. Findings indicate that teachers can implement an intervention to significantly improve joint engagement of young children with autism in their classrooms. Furthermore, multilevel analyses showed significant increases in joint attention and symbolic play skills. Thus, these pilot data emphasize the need for further research and implementation of classroom-based interventions targeting play and joint attention skills for young children with autism.
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14. Wong CC, Meaburn EL, Ronald A, Price TS, Jeffries AR, Schalkwyk LC, Plomin R, Mill J. {{Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits}}. {Mol Psychiatry};2013 (Apr 23)
Autism spectrum disorder (ASD) defines a group of common, complex neurodevelopmental disorders. Although the aetiology of ASD has a strong genetic component, there is considerable monozygotic (MZ) twin discordance indicating a role for non-genetic factors. Because MZ twins share an identical DNA sequence, disease-discordant MZ twin pairs provide an ideal model for examining the contribution of environmentally driven epigenetic factors in disease. We performed a genome-wide analysis of DNA methylation in a sample of 50 MZ twin pairs (100 individuals) sampled from a representative population cohort that included twins discordant and concordant for ASD, ASD-associated traits and no autistic phenotype. Within-twin and between-group analyses identified numerous differentially methylated regions associated with ASD. In addition, we report significant correlations between DNA methylation and quantitatively measured autistic trait scores across our sample cohort. This study represents the first systematic epigenomic analyses of MZ twins discordant for ASD and implicates a role for altered DNA methylation in autism.Molecular Psychiatry advance online publication, 23 April 2013; doi:10.1038/mp.2013.41.
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15. Xie Q, Tang J, Xu Y, Zeng HL. {{[Clinical observation of aripiprazole in the treatment of autism]}}. {Zhongguo Dang Dai Er Ke Za Zhi};2013 (Apr);15(4):294-297.
OBJECTIVE: To study the effect and safety of aripiprazole in the treatment of childhood autism. METHODS: Thirty-five children (aged from 4 to 16 years) with autism presenting as behavioral disorders were treated with aripiprazole for 8 weeks. They were evaluated according to the Clinical Global Impression (CGI) and the Autism Treatment Evaluation Checklist (ATEC) before treatment and at the end of the 2nd, 4th and 8th weeks of treatment. Adverse reactions were observed. RESULTS: The CGI showed illness severity decreased from the second week of aripiprazole treatment (P<0.05) and more significantly decreased illness severity was observed at the end of the 8th week (P<0.01). The curative effect score significantly increased at the end of the 8th week (P<0.05). The ATEC total scores were significantly reduced at the end of the 8th week after aripiprazole treatment. Besides the social intercourse ability, great improvements were shown in verbal communication, apperception and behavioural symptoms after aripiprazole treatment (P<0.01). Self-harm, sleep disorders and psychiatric symptoms were greatly improved after treatment and attention deficit, excessive activities, impulse to attack behavior, stereotyped behaviors and irritability were also improved to some extent. No severe adverse effects were found. CONCLUSIONS: Aripiprazole is safe and effective for the treatment of childhood autism.
