Pubmed du 17/07/19

mercredi 17 juillet 2019

1. Dovey TM, Kumari V, Blissett J. Eating behaviour, behavioural problems and sensory profiles of children with avoidant/restrictive food intake disorder (ARFID), autistic spectrum disorders or picky eating : Same or different ?. Eur Psychiatry ;2019 (Jul 13) ;61:56-62.

BACKGROUND : Not much is known at present about the behavioural and sensory profiles of children with avoidant/restrictive food intake disorder (ARFID), the newest addition to the eating disorder diagnostic category in DSM-V. Our aims were to examine eating difficulties, behavioural problems and sensory hypersensitivity in ARFID children, relative to typically developing children with no reported feeding, mental or physical health problems, as well as children with autistic spectrum disorders (ASD ; typically associated with a high prevalence of eating problems) or Picky Eating (PE). METHODS : Four hundred and eighty-six parents of children with ARFID (n=29), ASD (n=56), PE (n=143) or no reported difficulties (n=259) completed (online) the Behavioral Pediatric Feeding Assessment Scale, the Child Eating Behaviour Questionnaire, Strengths and Difficulties Questionnaire, and the Sensory Experiences Questionnaire about the children. RESULTS : The ARFID, ASD and PE groups had eating difficulties, behavioural problems and sensory hypersensitivity, relative to the typically developing group, and differed significantly on only some of the dimensions assessed. Specifically, the ARFID group had the lowest food-responsiveness and differed significantly from the PE and typically developing (but not from ASD) groups while the ASD group had significantly greater behavioural problems and social and non-social sensitivity than all other groups. CONCLUSIONS : Notable overlap in eating difficulties, behavioural problems and sensory profiles of children with ARFID, ASD or PE, with more severe aberrations in ARFID (food-responsiveness) and ASD (hypersensitivity and social problems) on specific dimensions, argue for a dimensional approach to improve therapy and management of children with these disorders.

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2. Frazier TW. Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations. Cold Spring Harb Perspect Med ;2019 (Jul 15)

This review examines our current understanding of autism spectrum disorder (ASD), its prevalence, impact, behavioral treatment, and outcomes. Building on this knowledge, ASD associated with PTEN mutations is introduced and recent human studies of neurobehavioral and neuroimaging findings in patients with PTEN mutations with and without ASD are reviewed. In doing so, we present evidence supporting a model of PTEN loss leading to neurobehavioral deficits, including ASD and intellectual disability. Next, we describe the neurobehavioral spectrum observed across PTEN mutation cases, adding specificity where possible, based on data from recent studies of child and adult PTEN patients. Finally, we end with a discussion of potential clinical recommendations for improving interventions and supports for people with PTEN-ASD and future research avenues for understanding and treating the functional and cognitive deficits in PTEN-ASD.

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3. Friedman L, Sterling A. A Review of Language, Executive Function, and Intervention in Autism Spectrum Disorder. Semin Speech Lang ;2019 (Aug) ;40(4):291-304.

Difficulties with both executive functions and language skills are common but variable in autism spectrum disorder (ASD). Executive functions and language skills are related to one another, such that vocabulary, syntax, and pragmatics are related to domains of working memory, shifting, and inhibition in ASD, although the directionality of these relationships remains unclear. Moreover, interventions that target pragmatic ability have been found to improve executive function skills, and conversely, executive function interventions are linked with improvements in social skills in children with ASD. We review the literature on executive functions, language skills, and their relationship in ASD ; discuss factors that may be driving inconsistent findings ; and explore clinical applications from the research thus far.

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4. Heath A, Alvensleben IV, Navarro J, Echazu G, Kozlik-Feldmann R, Freudenthal F. Developing High Medical Technology, a Challenge for Developing Countries : The Percutaneous Closure of Atrial Septal Defects Using Nit-Occlud ASD-R : Early and Mid-term Results. World J Pediatr Congenit Heart Surg ;2019 (Jul) ;10(4):433-439.

OBJECTIVE : To assess the efficacy and safety of the Nit-Occlud ASD-R (PFM S.R.L, La Paz, Bolivia) in the percutaneous closure of secundum atrial septal defects (ASD). PATIENTS AND METHODS : Fifty-three consecutive patients with median age of 11 years (range 3-67) and mean weight 27.1 kg (range 13-75 kg), treated in two cardiology centers between May 2007 and March 2011. RESULTS : Mean fluoroscopy time was 14 minutes (5-53), mean procedure time was 70 minutes (45-150), mean defect size, as measured by the stop-flow technique, was 17.8 mm (5.6-31), and mean stent size of the implanted device was 18 mm (6-28), which is 0.98 times the defect size. Successful closure of the ASD without major complications was achieved in 49 of 53 patients. In 71.4% of patients in whom device implantation was accomplished, there was no evidence of a persistent shunt at the completion of the procedure. This closure rate increased to 91.7% after 24 hours, with 95.8% closure after three months and 100% closure after six months. Device embolization occurred in one patient within 24 hours of implantation and required surgical device removal and ASD closure. There were no other major complications and no deaths during the period of follow-up (average 72 months ; range 59-105 months). CONCLUSION : The Nit-Occlud ASD-R device is safe and effective with very good closure rates.

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5. Le Bras A. Gene-edited SHANK-3 mutant macaques display autism behavior. Lab Anim (NY) ;2019 (Jul 15)

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6. Lee C, Park KW, Choi N, Ryu HS, Chung SJ. Fragile X-Associated Tremor/Ataxia Syndrome : An Illustrative Case. J Mov Disord ;2019 (Jul 17)

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7. Lee SH, Shin S, Kim TH, Kim SM, Do TY, Park S, Lee B, Shin HJ, Lee J, Lee JY, Chang GT. Safety, effectiveness, and economic evaluation of an herbal medicine, Ukgansangajinpibanha granule, in children with autism spectrum disorder : a study protocol for a prospective, multicenter, randomized, double-blinded, placebo-controlled, parallel-group clinical trial. Trials ;2019 (Jul 15) ;20(1):434.

BACKGROUND : Autism spectrum disorder (ASD) is characterized by continuous impairment in communication and social interaction and by limited and repetitive behaviors, interests, or activities. Behavioral, educational, and pharmaceutical interventions have been shown to reduce behavioral disabilities, improve verbal/non-verbal communication, and help patients acquire self-reliance skills. However, there has been a lack of systematic verification and consensus regarding the treatment of the core symptoms of ASD because of its unclear etiology. Ukgansangajinpibanha (UGSJB), a legitimately prescribed herbal medicine for nervousness, insomnia, night crying, and malnutrition in South Korea and Japan, has been used for angry, sensitive, nervous, and unsettled children with ASD. METHODS/DESIGN : This trial is a prospective, multicenter, randomized, double-blinded, placebo-controlled, parallel-group, clinical trial. The 4- to 6-year-old children with ASD will be randomly assigned to following groups : 1. A UGSJB granule with acupuncture, twice daily (n = 120) 2. A placebo group with acupuncture, twice daily (n = 120). The following outcome measures will be used : behavior by the Childhood Autism Rating Scale, Autism Behavior Checklist, and Aberrant Behavior Checklist ; social maturity by the Social Maturity Scale ; quality of life by the Child Health Questionnaire and EuroQoL Five-dimension Five-level Youth ; and parental stress by the Parenting Stress Index at baseline and at 6, 12, and 24 weeks after the beginning of treatment. In addition, to evaluate safety, we will investigate the adverse reactions that may be caused by UGSJB granule. Finally, we will make an economic evaluation of UGSJB for the treatment of ASD. DISCUSSION : We prepared a well-designed clinical trial to investigate the safety and effectiveness of UGSJB on ASD symptoms compared with placebo treatment. The results from this study will provide clinical evidence on the safety, effectiveness, and economic value of UGSJB combined with acupuncture in children with ASD. TRIAL REGISTRATION : Clinical Research Information Service : KCT0003007 (registered on April 5, 2018).

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8. Lee Y, Han PL. Early-Life Stress in D2 Heterozygous Mice Promotes Autistic-like Behaviors through the Downregulation of the BDNF-TrkB Pathway in the Dorsal Striatum. Exp Neurobiol ;2019 (Jun) ;28(3):337-351.

A number of specific genetic variants including gene mutations and single nucleotide variations have been identified in genomewide association studies of autism spectrum disorder (ASD). ASD phenotypes in individuals carrying specific genetic variations are manifest mostly in a heterozygous state. Furthermore, individuals with most genetic variants show incomplete penetrance and phenotypic variability, suggesting that non-genetic factors are also involved in developing ASD. However, the mechanisms of how genetic and environmental factors interactively promote ASD are not clearly understood. In the present study, we investigated whether early-life stress (ELS) in D2 dopamine receptor heterozygous knockout (D2(+/-)) mice induces ASD-like symptoms. To address that, we exposed D2 heterozygous pups to maternal separation stress for 3 h daily for 13 days beginning on postnatal day 2. D2(+/-) adult mice that had experienced ELS exhibited impaired sociability in the three-chamber test and home-cage social interaction test and increased grooming behavior, whereas wildtype littermates exposed to ELS did not show those phenotypes. ELS-exposed D2(+/-) mice had decreased levels of BDNF, TrkB, phospho-ERK1/2 and phospho-CREB in the dorsal striatum. Administration of the TrkB agonist 7,8-dihydroxyflavone (7,8-DHF) to ELS-exposed D2(+/-) mice rescued the sociability deficits and repetitive behavior. In contrast, behavioral rescue by 7,8-DHF in ELS-exposed D2(+/-) mice was blocked when TrkB expression in the dorsal striatum was locally inhibited by the injection of TrkB-siRNA. Together, our results suggest that the interaction between ELS and defective D2 gene function promotes autistic-like behaviors by downregulating the BDNF-TrkB pathway in the dorsal striatum.

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9. Mintz M, Hollenberg E. Revisiting Lithium : Utility for Behavioral Stabilization in Adolescents and Adults with Autism Spectrum Disorder. Psychopharmacol Bull ;2019 (Jun 20) ;49(2):28-40.

Objectives : To examine the efficacy of lithium as a mood stabilizer for patients with autism spectrum disorder (ASD). Experimental Design : A retrospective chart review was performed that examined the use of both extended and immediate release lithium carbonate in patients with ASD that were treated at a single clinical center (CNNH NeuroHealth). Clinical Global Impression (CGI) scales were used to quantify baseline severity of ASD and mood symptoms as well as improvement after treatment with lithium carbonate. Principle Observations : Our retrospective chart review found that 73.7% (n = 14) of patients with ASD and concomitant maladaptive behaviors experienced "improvement" (CGI-I rating

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10. Roach AT, Dispenza F, Zeligman M, Stair A, Kelly B. Evaluating the Availability and Quality of HIV/AIDS Services and Supports for Individuals with Intellectual and Developmental Disabilities. Ethn Dis ;2019 ;29(Suppl 2):435-440.

We used a community-based participatory research (CBPR) framework to conduct a needs assessment of the availability and quality of human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) services for persons with intellectual and developmental disabilities (PWIDD) in the Atlanta metropolitan area. We present the findings of a three-phase research project. Findings from the research informs organizations and policymakers on how to provide persons with disabilities better access to HIV/AIDS care.

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11. Videlefsky AS, Reznik JM, Nodvin JT, Heiman HJ. Addressing Health Disparities in Adults with Developmental Disabilities. Ethn Dis ;2019 ;29(Suppl 2):355-358.

Adults with developmental disabilities are a growing population that experiences significant health disparities due to unmet health care and social needs. Few standardized health care guidelines are available or broadly accepted as best practices for this population. The Adult Disability Medical Healthcare (ADMH) is a community-based clinic that provides a unique multidisciplinary team-based approach to addressing the social and health care needs of adults with developmental disabilities within the framework of a Patient Centered Medical Home model. ADMH is developing the necessary research infrastructure and obtaining input from individuals with developmental disabilities, their families, and community stakeholders and is performing foundational analysis to inform the development of guidelines for evidence-based best practices for the care of adults with developmental disabilities. This will set the stage for future research evaluating the impact of these guidelines on health outcomes and the reduction of health disparities in this population. This commentary highlights a process for development of evidence-based guidelines and best practices for care of adults with developmental disabilities.

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