Pubmed du 06/04/19

samedi 6 avril 2019

1. Ashworth M, Palikara O, Van Herwegen J. Comparing parental stress of children with neurodevelopmental disorders : The case of Williams syndrome, Down syndrome and autism spectrum disorders. J Appl Res Intellect Disabil. 2019.

BACKGROUND : Although parental stress is higher for children with neurodevelopmental disorders (NDs), it is unclear how this stress compares to more common NDs. The current study compared stress in parents of children with Williams syndrome (WS), Down syndrome (DS) and autism spectrum disorders (ASD). The impact of individual and contextual factors was also explored. METHOD : Parents of children with WS (n = 107), DS (n = 79) and ASD (n = 79) completed a background questionnaire, a parental stress questionnaire and a satisfaction with life questionnaire. RESULTS : Although all groups displayed similar levels of parental stress, the factors that influenced this stress differed between the groups. There were also differences for life satisfaction and relationships between parental stress and individual and contextual factors. CONCLUSIONS : Although parents of children with NDs are not at an increased risk of parental stress, the results suggest that interventions should be syndrome-specific.

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2. Ciarrusta J, O’Muircheartaigh J, Dimitrova R, Batalle D, Cordero-Grande L, Price A, Hughes E, Steinweg JK, Kangas J, Perry E, Javed A, Stoencheva V, Akolekar R, Victor S, Hajnal J, Murphy D, Edwards D, Arichi T, McAlonan G. Social Brain Functional Maturation in Newborn Infants With and Without a Family History of Autism Spectrum Disorder. JAMA network open. 2019 ; 2(4) : e191868.

Importance : What is inherited or acquired in neurodevelopmental conditions such as autism spectrum disorder (ASD) is not a fixed outcome, but instead is a vulnerability to a spectrum of traits, especially social difficulties. Identifying the biological mechanisms associated with vulnerability requires looking as early in life as possible, before the brain is shaped by postnatal mechanisms and/or the experiences of living with these traits. Animal studies suggest that susceptibility to neurodevelopmental disorders arises when genetic and/or environmental risks for these conditions alter patterns of synchronous brain activity in the perinatal period, but this has never been examined in human neonates. Objective : To assess whether alternation of functional maturation of social brain circuits is associated with a family history of ASD in newborns. Design, Setting, and Participants : In this cohort study of 36 neonates with and without a family history of ASD, neonates underwent magnetic resonance imaging at St Thomas Hospital in London, England, using a dedicated neonatal brain imaging system between June 23, 2015, and August 1, 2018. Neonates with a first-degree relative with ASD (R+) and therefore vulnerable to autistic traits and neonates without a family history (R-) were recruited for the study. Synchronous neural activity in brain regions linked to social function was compared. Main Outcomes and Measures : Regions responsible for social function were selected with reference to a published meta-analysis and the level of synchronous activity within each region was used as a measure of local functional connectivity in a regional homogeneity analysis. Group differences, controlling for sex, age at birth, age at scan, and group x age interactions, were examined. Results : The final data set consisted of 18 R+ infants (13 male ; median [range] postmenstrual age at scan, 42.93 [40.00-44.86] weeks) and 18 R- infants (13 male ; median [range] postmenstrual age at scan, 42.50 [39.29-44.58] weeks). Neonates who were R+ had significantly higher levels of synchronous activity in the right posterior fusiform (t = 2.48 ; P = .04) and left parietal cortices (t = 3.96 ; P = .04). In addition, there was a significant group x age interaction within the anterior segment of the left insula (t = 3.03 ; P = .04) and cingulate cortices (right anterior : t = 3.00 ; P = .03 ; left anterior : t = 2.81 ; P = .03 ; right posterior : t = 2.77 ; P = .03 ; left posterior : t = 2.55 ; P = .03). In R+ infants, levels of synchronous activity decreased over 39 to 45 weeks’ postmenstrual age, whereas synchronous activity levels increased in R- infants over the same period. Conclusions and Relevance : Synchronous activity is required during maturation of functionally connected networks. This study found that in newborn humans, having a first-degree relative with ASD was associated with higher levels of local functional connectivity and dysmaturation of interconnected regions responsible for processing higher-order social information.

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3. Fernandez Sanchez H, Hernandez CBE, Sidani S, Osorio CH, Contreras EC, Mendoza JS. Dance Intervention for Mexican Family Caregivers of Children With Developmental Disability : A Pilot Study. Journal of transcultural nursing : official journal of the Transcultural Nursing Society. 2019 : 1043659619838027.

INTRODUCTION : There are 7.1 million people living with a disability in Mexico. Of these individuals, 7% are children and adolescents with developmental disabilities. Mexican women caring for children with a developmental disability are at risk of psychological stress, which may be prevented with physical activity such as dance. Therefore, the purpose of this pilot study was to examine (a) the feasibility of implementing the dance intervention, (b) the mothers’ satisfaction with the intervention, and (c) the changes in stress level experienced by the mothers on completion of the intervention. METHOD : A one-group pretest-posttest design was used. The Salsa dance intervention was given in nine 60-minute sessions, twice a week in Veracruz, Mexico. The sample included 14 mothers of children with disabilities. The outcome, stress level, was measured with the validated Questionnaire of Perceived Stress. Feasibility of intervention implementation was maintained by having the interventionist follow the interventionist manual. Satisfaction was assessed by the Satisfaction with Therapy and Therapist Scale. RESULTS : The intervention was feasible as all participants completed the intervention sessions. They reported high satisfaction (100%) with the intervention and interventionist. At posttest, participants showed reduced stress levels ( p = .028). DISCUSSION : The dance intervention is promising in reducing women’s stress levels and worth further development in order to benefit the Mexican women caring for children with developmental disability and experiencing stress. Nurses can implement the Salsa dance intervention with the Mexican population while improving the clients’ retention, outcomes, and overall satisfaction.

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4. Hofer J, Hoffmann F, Kamp-Becker I, Poustka L, Roessner V, Stroth S, Wolff N, Bachmann CJ. Pathways to a diagnosis of autism spectrum disorder in Germany : a survey of parents. Child Adolesc Psychiatry Ment Health. 2019 ; 13 : 16.

Background : Early identification of autism spectrum disorders (ASD) is a prerequisite for access to early interventions. Although parents often note developmental atypicalities during the first 2 years of life, many children with ASD are not diagnosed until school age. For parents, the long period between first parental concerns and diagnosis is often frustrating and accompanied by uncertainty and worry. Methods : This study retrospectively explored the trajectories of children with a confirmed ASD diagnosis during the diagnostic process, from first parental concerns about their child’s development until the definite diagnosis. A survey concerning the diagnostic process was distributed to parents or legal guardians of children with ASD from three specialized ASD outpatient clinics in Germany. Results : The response rate was 36.9%, and the final sample consisted of carers of 207 affected children (83.6% male, mean age 12.9 years). The children had been diagnosed with childhood autism (55.6%), Asperger syndrome (24.2%), or atypical autism (20.3%). On average, parents had first concerns when their child was 23.4 months old, and an ASD diagnosis was established at a mean age of 78.5 months. Children with atypical autism or Asperger syndrome were diagnosed significantly later (83.9 and 98.1 months, respectively) than children with childhood autism (68.1 months). Children with an IQ < 85 were diagnosed much earlier than those with an IQ >/= 85. On average, parents visited 3.4 different health professionals (SD = 2.4, range 1-20, median : 3.0) until their child received a definite ASD diagnosis. Overall, 38.5% of carers were satisfied with the diagnostic process. Conclusions : In this sample of children with ASD in Germany, the time to diagnosis was higher than in the majority of other comparable studies. These results flag the need for improved forms of service provision and delivery for suspected cases of ASD in Germany.

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5. Lee B, Lee K, Panda S, Gonzales-Rojas R, Chong A, Bugay V, Park HM, Brenner R, Murthy N, Lee HY. Nanoparticle delivery of CRISPR into the brain rescues a mouse model of fragile X syndrome from exaggerated repetitive behaviours. Nature biomedical engineering. 2018 ; 2(7) : 497-507.

Technologies that can safely edit genes in the brains of adult animals may revolutionize the treatment of neurological diseases and the understanding of brain function. Here, we demonstrate that intracranial injection of CRISPR-Gold, a nonviral delivery vehicle for the CRISPR-Cas9 ribonucleoprotein, can edit genes in the brains of adult mice in multiple mouse models. CRISPR-Gold can deliver both Cas9 and Cpf1 ribonucleoproteins, and can edit all of the major cell types in the brain, including neurons, astrocytes and microglia, with undetectable levels of toxicity at the doses used. We also show that CRISPR-Gold designed to target the metabotropic glutamate receptor 5 (mGluR5) gene can efficiently reduce local mGluR5 levels in the striatum after an intracranial injection. The effect can also rescue mice from the exaggerated repetitive behaviours caused by fragile X syndrome, a common single-gene form of autism spectrum disorders. CRISPR-Gold may significantly accelerate the development of brain-targeted therapeutics and enable the rapid development of focal brain-knockout animal models.

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6. Li C, Bai Y, Jin C, Zhong F, Guo Q, Liu W. Efficacy and Safety of Fluoxetine in Autism Spectrum Disorder : A Meta-analysis. American journal of therapeutics. 2019.

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7. Mello S, Alper M, Allen AA. Physician Mediation Theory and Pediatric Media Guidance in the Digital Age : A Survey of Autism Medical and Clinical Professionals. Health Commun. 2019 : 1-11.

Research on physician mediation suggests that physicians actively discuss media use (e.g., seeking online health information) with their patients. This theory has been limited though with respect to incorporating key behavioral determinants, varied forms of mediation, and samples beyond primary care physicians (MDs). A survey of 335 U.S.-based medical and clinical professionals (MCPs) treating pediatric clients on the autism spectrum (e.g., pediatricians, speech-language pathologists) examined how they advise caregivers about managing their child’s recreational media and technology use, also known as media guidance. Results indicate the frequency of these discussions varies by MCP type. Hierarchical regression analyses show, as hypothesized, that additional behavioral and contextual determinants not previously considered (i.e., perceived norms, self-efficacy, information sources and child factors) are significantly associated with positive, negative and redirective mediation practices. Results expand existing theory and justify extending physician mediation research beyond MDs. Implications for clinical practice and health communication research are discussed.

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8. Peter B, Dinu V, Liu L, Huentelman M, Naymik M, Lancaster H, Vose C, Schrauwen I. Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects. Behavior genetics. 2019.

Recent studies of autism spectrum disorder (ASD) and childhood apraxia of speech (CAS) have resulted in conflicting conclusions regarding the comorbidity of these disorders on phenotypic grounds. In a nuclear family with two dually affected and one unaffected offspring, whole-exome sequences were evaluated for single nucleotide and indel variants and CNVs. The affected siblings but not the unaffected sibling share a rare deleterious compound heterozygous mutation in WWOX, implicated both in ASD and motor control. In addition, one of the affected children carries a rare deleterious de novo mutation in the ASD candidate gene RIMS1. The two affected children but not their unaffected sibling inherited deleterious variants with relevance for ASD and/or CAS. WWOX, RIMS1, and several of the genes harboring the inherited variants are expressed in the brain during prenatal and early postnatal development. Results suggest compound heterozygosity as a cause of ASD and CAS, pleiotropic gene effects, and potentially additional, complex genetic effects.

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9. Roux AM, Rast JE, Shattuck PT. Correction to : State-Level Variation in Vocational Rehabilitation Service Use and Related Outcomes Among Transition-Age Youth on the Autism Spectrum. J Autism Dev Disord. 2019.

The original version of this article unfortunately contained mistakes in Table 1 values. Some of the values in "TAY-ASD who received services" were incorrect. The corrected Table 1 is given below.

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10. Saisanen L, Maatta S, Julkunen P, Niskanen E, Kallioniemi E, Grohn H, Kemppainen S, Lakka TA, Lintu N, Eloranta AM, Vanninen R, Makkonen I, Kononen M. Functional and structural asymmetry in primary motor cortex in Asperger syndrome : a navigated TMS and imaging study. Brain topography. 2019.

Motor functions are frequently impaired in Asperger syndrome (AS). In this study, we examined the motor cortex structure and function using navigated transcranial magnetic stimulation (nTMS) and voxel-based morphometry (VBM) and correlated the results with the box and block test (BBT) of manual dexterity and physical activity in eight boys with AS, aged 8-11 years, and their matched controls. With nTMS, we found less focused cortical representation areas of distinct hand muscles in AS. There was hemispheric asymmetry in the motor maps, silent period duration and active MEP latency in the AS group, but not in controls. Exploratory VBM analysis revealed less gray matter in the left postcentral gyrus, especially in the face area, and less white matter in the precentral area in AS as compared to controls. On the contrary, in the right leg area, subjects with AS displayed an increased density of gray matter. The structural findings of the left hemisphere correlated negatively with BBT score in controls, whereas the structure of the right hemisphere in the AS group correlated positively with motor function as assessed by BBT. These preliminary functional (neurophysiological and behavioral) findings are indicative of asymmetry, and co-existing structural alterations may reflect the motor impairments causing the deteriorations in manual dexterity and other motor functions commonly encountered in children with AS.

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11. Stahmer AC, Vejnoska S, Iadarola S, Straiton D, Segovia FR, Luelmo P, Morgan EH, Lee HS, Javed A, Bronstein B, Hochheimer S, Cho E, Aranbarri A, Mandell D, Hassrick EM, Smith T, Kasari C. Correction to : Caregiver Voices : Cross-Cultural Input on Improving Access to Autism Services. Journal of racial and ethnic health disparities. 2019.

Please note that the middle name of coauthor Francisco Reinosa Segovia was misspelled (as "Rienosa") is this article as originally published.

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