1. Boshoff K, Gibbs D, Phillips RL, Wiles L, Porter L. {{Parents’ voices: « Our process of advocating for our child with autism. » A meta-synthesis of parents’ perspectives}}. {Child Care Health Dev};2017 (Aug 23)
BACKGROUND: Advocacy has been described by parents of children with autism as an important coping strategy, enabling them to move forward by redirecting emotions into actions. A key factor in the development of collaborative and constructive partnerships between service providers and parents is having an understanding of how parents engage in advocacy and the support needed to do so. This meta-synthesis was undertaken to consolidate in-depth qualitative data from parents’ perspectives of the process that they use to advocate for their children with autism. METHODS: A qualitative meta-synthesis was conducted, whereby 15 databases were systematically searched. Thirty-one studies were identified and appraised using an adapted version of the Critical Appraisal Skills Programme tool. Data were synthesized into themes through the steps of review, meta-aggregation, integration, and interpretation. RESULTS: The voices of 1,662 parents are presented describing the process of advocacy in the stages of seeking a diagnosis, seeking self-education, and taking action. Taking action includes 2 subthemes: seeking, access, and use of support services and community engagement and educating others. CONCLUSIONS: Results highlight the significant impact that positive experiences with first-line professionals have during the diagnosis process and how these experiences lay the foundation for all future relationships with other service providers. Important implications arise from this meta-synthesis for service providers in supporting parents’ advocacy and hence building constructive relationships with families with a child with autism.
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2. Chalkia D, Singh LN, Leipzig J, Lvova M, Derbeneva O, Lakatos A, Hadley D, Hakonarson H, Wallace DC. {{Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders}}. {JAMA Psychiatry};2017 (Aug 23)
Importance: Autism spectrum disorders (ASD) are characterized by impairments in social interaction, communication, and repetitive or restrictive behavior. Although multiple physiologic and biochemical studies have reported defects in mitochondrial oxidative phosphorylation in patients with ASD, the role of mitochondrial DNA (mtDNA) variation has remained relatively unexplored. Objective: To assess what impact mitochondrial lineages encompassing ancient mtDNA functional polymorphisms, termed haplogroups, have on ASD risk. Design, Setting, and Participants: In this cohort study, individuals with autism and their families were studied using the Autism Genetic Resource Exchange cohort genome-wide association studies data previously generated at the Children’s Hospital of Philadelphia. From October 2010 to January 2017, we analyzed the data and used the mtDNA single-nucleotide polymorphisms interrogated by the Illumina HumanHap 550 chip to determine the mtDNA haplogroups of the individuals. Taking into account the familial structure of the Autism Genetic Resource Exchange data, we then determined whether the mtDNA haplogroups correlate with ASD risk. Main Outcomes and Measures: Odds ratios of mitochondrial haplogroup as predictors of ASD risk. Results: Of 1624 patients with autism included in this study, 1299 were boys (80%) and 325 were girls (20%). Families in the Autism Genetic Resource Exchange collection (933 families, encompassing 4041 individuals: 1624 patients with ASD and 2417 healthy parents and siblings) had been previously recruited in the United States with no restrictions on age, sex, race/ethnicity, or socioeconomic status. Relative to the most common European haplogroup HHV, European haplogroups I, J, K, O-X, T, and U were associated with increased risk of ASD, as were Asian and Native American haplogroups A and M, with odds ratios ranging from 1.55 (95% CI, 1.16-2.06) to 2.18 (95% CI, 1.59-3) (adjusted P < .04). Hence, mtDNA haplogroup variation is an important risk factor for ASD. Conclusions and Relevance: Because haplogroups I, J, K, O-X, T, and U encompass 55% of the European population, mtDNA lineages must make a significant contribution to overall ASD risk. Lien vers le texte intégral (Open Access ou abonnement)
3. Davis JK, Broadie K. {{Multifarious Functions of the Fragile X Mental Retardation Protein}}. {Trends Genet};2017 (Aug 18)
Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD), results from the loss of Fragile X mental retardation protein (FMRP). This neurodevelopmental disease state exhibits neural circuit hyperconnectivity and hyperexcitability. Canonically, FMRP functions as an mRNA-binding translation suppressor, but recent findings have enormously expanded its proposed roles. Although connections between burgeoning FMRP functions remain unknown, recent advances have extended understanding of its involvement in RNA, channel, and protein binding that modulate calcium signaling, activity-dependent critical period development, and the excitation-inhibition (E/I) neural circuitry balance. In this review, we contextualize 3 years of FXS model research. Future directions extrapolated from recent advances focus on discovering links between FMRP roles to determine whether FMRP has a multitude of unrelated functions or whether combinatorial mechanisms can explain its multifaceted existence.
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4. Hossain MD, Ahmed HU, Jalal Uddin MM, Chowdhury WA, Iqbal MS, Kabir RI, Chowdhury IA, Aftab A, Datta PG, Rabbani G, Hossain SW, Sarker M. {{Autism Spectrum disorders (ASD) in South Asia: a systematic review}}. {BMC Psychiatry};2017 (Aug 01);17(1):281.
BACKGROUND: Autism spectrum disorders (ASD) are a group of complex neurodevelopmental disorders. The prevalence of ASD in many South Asian countries is still unknown. The aim of this study was to systematically review available epidemiological studies of ASD in this region to identify gaps in our current knowledge. METHODS: We searched, collected and evaluated articles published between January 1962 and July 2016 which reported the prevalence of ASD in eight South Asian countries. The search was conducted in line with the PRISMA guidelines. RESULTS: We identified six articles from Bangladesh, India, and Sri Lanka which met our predefined inclusion criteria. The reported prevalence of ASD in South Asia ranged from 0.09% in India to 1.07% in Sri Lanka that indicates up to one in 93 children have ASD in this region. Alarmingly high prevalence (3%) was reported in Dhaka city. Study sample sizes ranged from 374 in Sri Lanka to 18,480 in India. The age range varied between 1 and 30 years. No studies were found which reported the prevalence of ASD in Pakistan, Nepal, Bhutan, Maldives and Afghanistan. This review identifies methodological differences in case definition, screening instruments and diagnostic criteria among reported three countries which make it very difficult to compare the studies. CONCLUSIONS: Our study is an attempt at understanding the scale of the problem and scarcity of information regarding ASD in the South Asia. This study will contribute to the evidence base needed to design further research and make policy decisions on addressing this issue in this region. Knowing the prevalence of ASD in South Asia is vital to ensure the effective allocation of resources and services.
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5. Nordahl-Hansen A, Tondevold M, Fletcher-Watson S. {{Mental health on screen: A DSM-5 dissection of portrayals of autism spectrum disorders in film and TV}}. {Psychiatry Res};2017 (Aug 23)
Portrayals of characters with autism spectrum disorders (ASD) in films and TV series are subject to intense debate over whether such representations are accurate. Inaccurate portrayals are a concern as they may lead to increased stereotypes toward the condition. We investigate whether portrayals of characters with autism spectrum disorder in film and TV-series align with DSM-5 diagnostic criteria. Our data show that characters present a full range of characteristics described in the DSM-5. The meaning of this finding is discussed in relation to potential educational value of on screen portrayals and the notion of authenticity in representing the autistic experience.
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6. S OD. {{Stress in caregivers of individuals with intellectual or developmental disabilities: A systematic review of mindfulness-based interventions}}. {J Appl Res Intellect Disabil};2017 (Aug 23)
BACKGROUND: The efficacy of mindfulness-based interventions (MBIs) for stress and psychological distress in professional caregivers supporting individuals with intellectual or developmental disabilities (IDDs) is reviewed. METHODS: Eight studies met inclusion criteria and were systematically reviewed, including RCTs and single-group designs. RESULTS: As per Reichow, Volkmar, and Cicchetti (Journal of Autism and Developmental Disorders, 38, 2008), three studies were classified as « adequate quality » and five were classified as « weak. » There were inconsistent findings in relation to stress, with significant reductions or increases reported by caregivers following MBIs. MBIs consistently improved caregivers’ ratings of distress. Process outcomes suggested increased mindful awareness, increased cognitive defusion and reduced thought suppression. Treatment effects were maintained or continued to grow at follow-up. CONCLUSIONS: Caregivers of individuals with IDDs face multiple challenges on a daily basis. This review supports, at least, short-term benefits for MBIs in the management of stress and distress in caregivers of individuals with IDDs.
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7. Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM. {{A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder}}. {J Peripher Nerv Syst};2017 (Aug 23)
Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder, spastic paraplegia and axonal neuropathy. The presence of autism spectrum disorder distinguishes this case from previously reported patients with de novo dominant mutations in KIF1A.
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8. Wu YJ, Hsu MT, Ng MC, Amstislavskaya TG, Tikhonova MA, Yang YL, Lu KT. {{Fragile X Mental Retardation-1 Knockout Zebrafish Shows Precocious Development in Social Behavior}}. {Zebrafish};2017 (Aug 22)
Fragile X syndrome (FXS) is a generally hereditary form of human mental retardation that is caused by triplet repeat expansion (CGG) mutation in fragile X mental retardation 1 (fmr1) gene promoter and that results in the absence of the fragile X mental retardation protein (FMRP) expression. The common symptoms of FXS patients include learning disabilities, anxiety, autistic behaviors, as well as other behavioral abnormalities. Our previous results demonstrated the behavioral abnormalities in fmr1 knockout (KO) zebrafish such as fear memory impairment and autism-like behavior. Here, we studied the functional role of fmr1 gene on the development of social behavior by behavioral experiments, including shoaling behavior, shoaling preference, light/dark test, and novel tank task. Our results demonstrated that precocious development of shoaling behavior is found in fmr1 KO zebrafish without affecting the shoaling preference on conspecific zebrafish. The shoaling behavior appeared after 14 days postfertilization (dpf), and the level of shoaling elevated in fmr1 KO zebrafish. Furthermore, the fmr1 KO zebrafish at 28 dpf expressed higher anxiety level in novel tank task. These results suggest that the change of shoaling behavior in fmr1 KO zebrafish may result from hyperactivity and an increase of anxiety.
