1. Bedard P. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in Children}}. {JAMA Pediatr};2016 (May 31)
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2. Berard A, Boukhris T. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in Children-Reply}}. {JAMA Pediatr};2016 (May 31)
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3. Bhat G, LaGrave D, Millson A, Herriges J, Lamb AN, Matalon R. {{Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder}}. {Eur J Med Genet};2016 (May 26)
We report an 8-year-old female with autism spectrum disorder (ASD), intellectual disability and speech delay who was found to carry a de novo 82 kb deletion of chromosome Xq11.1-11.2 involving the ARHGEF9 gene on chromosomal microarray. So far, 11 patients with point mutations, disruptions due to chromosomal rearrangements and deletions involving ARHGEF9 have been reported in the literature. ARHGEF9-related disorders comprise a wide phenotypic spectrum, including behavior disorders, autism spectrum disorder, intellectual disability, hyperekplexia and infantile epileptic encephalopathy. ARHGEF9 encodes for collybistin which plays an important role in post synaptic clustering of glycine and inhibitory gamma-aminobutyric acid receptors along with its scaffolding partner, gephyrin. The reduction of inhibitory receptor clusters in brain has been proposed as a plausible underlying pathophysiological mechanism. With this report, we provide further evidence for the role of ARHGEF9 in neurocognitive function, its implication in ASD, and review the clinical features of previously published individuals with ARHGEF9-related intellectual disability.
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4. Downs J, Forbes D, Johnson M, Leonard H. {{How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?}}. {J Paediatr Child Health};2016 (May 31)
Rett syndrome is a rare disorder caused by a mutation in the MECP2 gene. Those affected generally have severe functional impairments, and medical comorbidities such as scoliosis and poor growth are common. There is a paucity of information on the natural history of many rare disorders and an even greater deficit of evidence to guide best practice. The population-based and longitudinal Australian Rett Syndrome Database established in 1993 has supported investigations of the natural history of Rett syndrome and effectiveness of treatments. This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework. Compared with conservative management, we have shown that spinal fusion is associated with reduced mortality and better respiratory health. We have also shown that gastrostomy insertion is associated with subsequent weight gain. Family counselling for both procedures necessarily must include family perspectives and careful clinical attention to their needs and wishes. Vignettes describing family decision-making and experiences are presented to illustrate the principals of beneficence and autonomy in determining the best interests of the child and family. A blend of evidence-based practice with a strong clinical ethics framework has capacity to build existing strengths in families and reduce the negative impacts of disability and in so doing, optimise the health and wellbeing of those with Rett syndrome.
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5. Einarson A, Snyder C, Robinson G. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in Children}}. {JAMA Pediatr};2016 (May 31)
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6. Fluegge K. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in Children}}. {JAMA Pediatr};2016 (May 31)
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7. Fluegge K. {{Eye Movements, Autism, and Environmental Exposure to Nitrous Oxide}}. {J Am Acad Child Adolesc Psychiatry};2016 (Jun);55(6):523-524.
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8. Fombonne E. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in the Children}}. {JAMA Pediatr};2016 (May 31)
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9. Getz KD, Anderka MT, Werler MM, Jick SS. {{Maternal Pre-pregnancy Body Mass Index and Autism Spectrum Disorder among Offspring: A Population-Based Case-Control Study}}. {Paediatr Perinat Epidemiol};2016 (May 30)
BACKGROUND: Previous studies have attributed high maternal weight gain during pregnancy and pre-pregnancy obesity to a higher risk for autism spectrum disorder (ASD). Maternal underweight was not previously explored with respect to ASD risk. METHODS: We evaluated the association between maternal pre-pregnancy body mass index (BMI) and ASD occurrence among singletons born into the General Practice Research Database from 1993 to 2008. Case subjects were children with a diagnosis of ASD from birth to 2010. Up to four control subjects were matched to each case subject on birth year, sex, and general practice. Restricted cubic splines were used to assess the non-linearity of the association between maternal BMI and ASD. All study subjects were classified as underweight, normal weight, overweight, or obese based on maternal pre-pregnancy BMI using the WHO Classification Standard. Conditional logistic regression was used to calculate unadjusted and multivariable adjusted odds ratios for the association between categorical BMI (reference=normal weight) and the occurrence of ASD. RESULTS: The association between maternal BMI and ASD occurrence was non-linear and J-shaped. The adjusted ORs for maternal underweight and obesity were 1.43 (95% CI 1.01, 2.04) and 1.54 (95% CI 1.26, 1.89) respectively. CONCLUSIONS: Results suggest that extremes in maternal BMI may be associated with modest increases in the risk for ASD among offspring.
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10. Kaplan YC, Keskin-Arslan E, Acar S. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in Children}}. {JAMA Pediatr};2016 (May 31)
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11. Kawamura A, Mylopoulos M, Orsino A, Jimenez E, McNaughton N. {{Promoting the Development of Adaptive Expertise: Exploring a Simulation Model for Sharing a Diagnosis of Autism With Parents}}. {Acad Med};2016 (May 31)
PURPOSE: To explore how a simulation model promoted the development of integrated competencies associated with adaptive expertise in senior health professions trainees as they learned to share a diagnosis of autism with parents. METHOD: A qualitative instrumental case study method was used at the University of Toronto in 2014 to explore what eight developmental pediatrics residents and two clinical psychology interns learned from participating in a simulation model designed to enable trainees to practice sharing a diagnosis of autism with parents. This model incorporated variability (three cases), active experimentation in a safe environment, and feedback from multiple perspectives (peers, faculty, standardized patients, and a parent). Field notes were collected, and semistructured interviews were conducted to explore what participants learned. Constant comparative analysis was used to identify themes iteratively. Team analysis continued until a stable thematic structure was developed and applied to the entire data set. RESULTS: Four themes were identified. Three themes described how participating in the simulation model changed residents’ and interns’ approaches to sharing a diagnosis of autism with parents from using a structured, scripted framework to share the diagnosis; to being flexible within the structured framework; and, finally, to being attentive and responsive to parents by adapting and creating new approaches for sharing the diagnosis. The fourth theme described how the multiple perspectives in the simulation model prompted learners to develop adaptive approaches. CONCLUSIONS: This simulation model helped residents and interns move beyond use of a structured, scripted communication framework toward development of adaptive expertise.
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12. Lesage A, Diallo FB. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in Children}}. {JAMA Pediatr};2016 (May 31)
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13. Leung C, Chan S, Lam T, Yau S, Tsang S. {{The effect of parent education program for preschool children with developmental disabilities: A randomized controlled trial}}. {Res Dev Disabil};2016 (May 31);56:18-28.
AIM: This study aimed to evaluate the efficacy of a parent education program, the Happy Parenting program, for Chinese preschool children with developmental disabilities. METHODS: This study adopted randomized controlled trial design without blinding. Participants were randomized into intervention group (n=62) who were offered the Happy Parenting program delivered by educational psychologists and trainee educational psychologists, and a control group (n=57) who were offered a parent talk after the intervention group had completed treatment. Parent participants were requested to complete questionnaires on their children’s behavior, their parenting stress, and discipline strategies. RESULTS: Analysis was by intention-to-treat. The results indicated significant decrease in child problem behaviors, parenting stress and dysfunctional discipline strategies in the intervention group at post-intervention. CONCLUSION: This study provided promising evidence on the effectiveness of a parent education program, the Happy Parenting program, for Chinese preschool children with developmental disabilities.
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14. Link NA, Temple-Cooper ME. {{Prenatal Antidepressant Use and Risk of Autism Spectrum Disorders in Children}}. {JAMA Pediatr};2016 (May 31)
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15. Loviglio MN, Leleu M, Mannik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. {{Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes}}. {Mol Psychiatry};2016 (May 31)
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.Molecular Psychiatry advance online publication, 31 May 2016; doi:10.1038/mp.2016.84.
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16. May T, Cornish K, Rinehart NJ. {{Exploring factors related to the anger superiority effect in children with Autism Spectrum Disorder}}. {Brain Cogn};2016 (May 31);106:65-71.
Despite face and emotion recognition deficits, individuals with Autism Spectrum Disorder (ASD) appear to experience the anger superiority effect, where an angry face in a crowd is detected faster than a neutral face. This study extended past research to examine the impacts of ecologically valid photographic stimuli, gender and anxiety symptoms on the anger superiority effect in children with and without ASD. Participants were 81, 7-12year old children, 42 with ASD matched on age, gender and perceptual IQ to 39 typically developing (TYP) children. The photographic stimuli did not impact on task performance in ASD with both groups exhibiting the anger superiority effect. There were no gender differences and no associations with anxiety. Age was associated with the effect in the TYP but not ASD group. These findings confirm a robust effect of speeded detection of threat in ASD which does not appear to be confounded by gender or anxiety, but may have different underlying age-associated mechanisms.
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17. Park SY, Cervesi C, Galling B, Molteni S, Walyzada F, Ameis SH, Gerhard T, Olfson M, Correll CU. {{Antipsychotic Use Trends in Youth With Autism Spectrum Disorder and/or Intellectual Disability: A Meta-Analysis}}. {J Am Acad Child Adolesc Psychiatry};2016 (Jun);55(6):456-468 e454.
OBJECTIVE: Although irritability and aggression are relevant treatment targets in autism spectrum disorders (ASDs) and intellectual disability (ID) that may prompt antipsychotic use, antipsychotic prescribing patterns in such youth have not been systematically reviewed. METHOD: We systematically searched PubMed/MEDLINE/PsycInfo until March 2015 for studies reporting data on the frequency of youth diagnosed with ASDs and/or ID among antipsychotic-treated youth, as well as antipsychotic use in youth with ASD/ID, conducting a meta-analysis and meta-regression analysis of potential moderators, including publication year, study time point, country, setting, sample size, age, sex, and race/ethnicity. RESULTS: A total of 39 studies were meta-analyzed (n = 365,449, age = 11.4 +/- 6.2 years, males = 70.0% +/- 10.0%). Among 27 studies (n = 273,139, age = 11.9 +/- 8.0 years, males = 67.0% +/- 12.9%) reporting on antipsychotic-treated youth, 9.5% (95% CI = 7.8%-11.5%) were diagnosed with ASD/ID. In 20 studies (n = 209,756) reporting data separately for ASD, 7.9% (95% CI = 6.2%-9.9%) had an ASD diagnosis. In 5 longitudinal studies, the proportion of antipsychotic-treated youth with ASD did not change significantly from 1996 to 2011 (6.7% to 5.8%, odds ratio = 0.9, 95% CI = 0.8-1.0, p =.17). However, later study time point moderated greater ASD/ID proportions (beta = 0.12, p < .00001). In 13 studies (n = 96,688, age = 9.8 +/- 1.2 years, males = 78.6% +/- 2.0%) reporting on antipsychotic use in ASD samples, 17.5% (95% CI = 13.7%-22.1%) received antipsychotics. Again, later study time point moderated higher antipsychotic use among patients with ASD (beta = 0.10, p = .004). CONCLUSION: Almost 1 in 10 antipsychotic-treated youth were diagnosed with ASD and/or ID, and 1 in 6 youth with ASD received antipsychotics. Both proportions increased in later years; however, clinical reasons and outcomes of antipsychotic use in ASD/ID require further study. Lien vers le texte intégral (Open Access ou abonnement)
18. Yang T, Zhao H, Lu C, Li X, Xie Y, Fu H, Xu H. {{Synaptic Plasticity, a Prominent Contributor to the Anxiety in Fragile X Syndrome}}. {Neural Plast};2016;2016:9353929.
Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by expansion of the CGG trinucleotide repeat affecting the fmr1 gene on X chromosome, resulting in silence of the fmr1 gene and failed expression of FMRP. Patients with FXS suffer from cognitive impairment, sensory integration deficits, learning disability, anxiety, autistic traits, and so forth. Specifically, the morbidity of anxiety in FXS individuals remains high from childhood to adulthood. By and large, it is common that the change of brain plasticity plays a key role in the progression of disease. But for now, most studies excessively emphasized the one-sided factor on the change of synaptic plasticity participating in the generation of anxiety during the development of FXS. Here we proposed an integrated concept to acquire better recognition about the details of this process.
