Pubmed du 25/12/19

mercredi 25 décembre 2019

1. Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Perez MC, Arranz M, Moffitt AB, Wang Z, Hervas A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med ;2019 (Dec 23)

De novo mutations arising on the paternal chromosome make the largest known contribution to autism risk, and correlate with paternal age at the time of conception. The recurrence risk for autism spectrum disorders is substantial, leading many families to decline future pregnancies, but the potential impact of assessing parental gonadal mosaicism has not been considered. We measured sperm mosaicism using deep-whole-genome sequencing, for variants both present in an offspring and evident only in father’s sperm, and identified single-nucleotide, structural and short tandem-repeat variants. We found that mosaicism quantification can stratify autism spectrum disorders recurrence risk due to de novo mutations into a vast majority with near 0% recurrence and a small fraction with a substantially higher and quantifiable risk, and we identify novel mosaic variants at risk for transmission to a future offspring. This suggests, therefore, that genetic counseling would benefit from the addition of sperm mosaicism assessment.

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2. Clipperton-Allen AE, Page DT. Connecting Genotype with Behavioral Phenotype in Mouse Models of Autism Associated with PTEN Mutations. Cold Spring Harb Perspect Med ;2019 (Dec 23)

A subset of individuals with autism spectrum disorder (ASD) and macrocephaly carry mutations in the gene PTEN. Animal models, particularly mice, have been helpful in establishing a causal role for Pten mutations in autism-relevant behavioral deficits. These models are a useful tool for investigating neurobiological mechanisms of these behavioral phenotypes and developing potential therapeutic interventions. Here we provide an overview of various genetic mouse models that have been used to characterize behavioral phenotypes caused by perturbation of Pten We discuss convergent and divergent phenotypes across models with the aim of highlighting a set of behavioral domains that are sensitive to the effects of Pten mutation and that may provide useful readouts for translational and basic neuroscience research.

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3. Dimitrova N, Mohr C, Ozcaliskan S, Adamson LB. Early Lateralization of Gestures in Autism : Right-Handed Points Predict Expressive Language. J Autism Dev Disord ;2019 (Dec 23)

Children with autism spectrum disorder (ASD) produce fewer deictic gestures, accompanied by delays/deviations in speech development, compared to typically-developing (TD) children. We ask whether children with ASD-like TD children-show right-hand preference in gesturing and whether right-handed gestures predict their vocabulary size in speech. Our analysis of handedness in gesturing in children with ASD (n = 23, Mage = 30-months) and with TD (n = 23, Mage = 18-months) during mother-child play showed a right-hand preference for TD children-but not for children with ASD. Nonetheless, right-handed deictic gestures predicted expressive vocabulary 1 year later in both children with ASD and with TD. Handedness for gesture, both hand preference and amount of right-handed pointing, may be an important indicator of language development in autism and typical development.

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4. Hajri M, Abbes Z, Ben Yahia H, Boudali M, Bouden A, Mrabet A, Amado I. Cognitive remediation therapy in autism spectrum disorder : Tunisian experience. Tunis Med ;2019 (Jun) ;97(6):795-801.

BACKGROUND : Cognitive dysfunctions associated with Autism spectrum disorder (ASD) are nowadays highlighted. These cognitive impairments include mainly executive dysfunctioning and are linked with academic difficulties, thus representing one of the treatment targets. Cognitive remediation therapy (CRT) is a new promising program aiming to remediate cognitive impairments by targeting executive functions. It attempts to teach information processing strategies through guided mental exercises. AIM : To assess the effectiveness of the cognitive remediation program CRT (Cognitive Remediation Therapy) on executive abilities and school results, in children and adolescents with ASD. METHODS : Cross-sectional study involving children and adolescents with ASD according to DSM-5. The CRT program was conducted individually at the rate of one session per week of 45 minutes each. Outcome measures were intellectual abilities, cognitive flexibility, working memory and school performance. RESULTS : Of the 25/24 patients included, 16 had reached the end of the program. Their average age was 10.87 years. The mean number of sessions performed was 22.38. After completion of CRT, patients showed significant improvement on intellectual abilities (p<10-3), phonemic fluency (p=0.032), << animal >> category of semantic fluency (p=0.045), working memory (p=0.001 for forward digit-span and p=0.006 for backward digit span) and school results (p=0.001). Patients made more repetitive and intrusive errors in semantic fluency with significant increase in the "clothes" semantic category (p=0.019). CONCLUSION : Cognitive remediation enhances cognition directly and positively acts on clinical course. It appears to be a relevant new method in the management of ASD. Yet, further research is required in order to confirm the efficiency of this treatment and to better define its optimal settings.

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5. Lu Z, Cogan L, McDermott S, Lauer E, Lindner S, Tracy K, Momany ET. Disparities in diabetes management among medicaid recipients with intellectual and developmental disabilities (IDD) : Evidence from five U.S. states. Disabil Health J ;2019 (Dec 17):100880.

BACKGROUND : Diabetes is one of the most common chronic conditions among adults. Little is known about the quality of diabetes care received by adults with intellectual and developmental disabilities (IDD). OBJECTIVE : To determine the extent to which the diabetes care needs are met for a population with both IDD and diabetes who are solely insured by Medicaid in five states (Iowa, Massachusetts, New York, Oregon and South Carolina). METHODS : Medicaid administrative data in 2012 were used to identify Medicaid members (excluding dual eligibles) with diabetes and IDD in five states. Four diabetes care measures were compared between members with and without IDD using bivariate analyses. For those with diabetes and IDD, a logistic regression model was fitted for each state with the following predictors : age, sex, IDD subgroup, and occurrence of a specialist visit in the current or past year. A meta-analysis was then conducted to synthesize cross-state results. RESULTS : Across the five states, 6229 (2%) of the 308,804 non-dual adult Medicaid members 18-64 years old with diabetes in 2012 also had IDD. Comparing those with IDD to their non-IDD peers on receipt of all four diabetes care measures showed differences by state, but state rates of overall adherence were very low, ranging from 16.6% to 28.5% of the population. CONCLUSIONS : Meta-analysis results identified specialist visits as a strong predictor of adults with diabetes and IDD receiving all four components of diabetes care. This important information should be considered in efforts to improve quality care for this population.

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6. Morrow EM. Paternal sperm DNA mosaicism and recurrence risk of autism in families. Nat Med ;2019 (Dec 23)

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7. Rybczynski S, Flanders XC, Murphy C, Hughes D, Reber P. Case Report : Ventilator weaning, tracheostomy decannulation and noninvasive ventilation in an adolescent with autism spectrum disorder and new onset spinal cord injury. Spinal Cord Ser Cases ;2019 ;5:102.

Introduction : Spinal cord injury (SCI) is a cause of significant psychosocial stress not only to the individual with SCI but also to their family. This is compounded when an individual with a new SCI has premorbid behavioral and medical conditions. For individuals requiring long term positive pressure ventilation, transition to noninvasive ventilation (NIV) can improve the long term outcome and improve quality of life. Case presentation : This case report describes a teenage boy with premorbid autism spectrum disorder who incurred an acute SCI and developed chronic respiratory failure. He was admitted to acute inpatient rehabilitation with tracheostomy and ventilator dependence. Using an interdisciplinary team approach with in vivo desensitization behavioral interventions, he was successfully weaned off mechanical ventilation, his tracheostomy tube was removed, and he was transitioned to NIV. Discussion : This case describes a medically complex adolescent who was successfully transitioned to NIV through behavioral desensitization using a team approach. This is noteworthy given the magnitude of behaviors demonstrated prior to his desensitization protocol. This case demonstrates how serious behavioral barriers to NIV can be overcome using desensitization and strategic behavioral reinforcement techniques.

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8. Siddiqua A, Duku E, Georgiades K, Mesterman R, Janus M. Neighbourhood-level prevalence of teacher-reported Autism Spectrum Disorder among kindergarten children in Canada : A population level study. SSM Popul Health ;2020 (Apr) ;10:100520.

*Number of children with ASD per neighbourhood varies from none to as high as 21.*Developmental vulnerabilities were not associated with levels of clustering.*Highest level of clustering of children with ASD was found in Nova Scotia.

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9. Yui K, Imataka G, Sasaki H, Kawasaki Y, Okanshi T, Shiroki R, Yoshihara S. Improvement in Impaired Social Cognition but Not Seizures by Everolimus in a Child with Tuberous Sclerosis-Associated Autism through Increased Serum Antioxidant Proteins and Oxidant/Antioxidant Status. Case Rep Pediatr ;2019 ;2019:2070619.

We investigated the effect of the mammalian target of rapamycin (mTOR) inhibitor everolimus on tuberous sclerosis complex- (TSC-) associated autistic symptoms and focal seizures with impaired awareness in a female child with TSC. We further evaluated the relationship between improved autistic symptoms and seizures and increased the serum levels of the antioxidant proteins, ceruloplasmin (Cp) and transferrin (Tf), and oxidant-antioxidant status indicated by the oxidant marker oxidized low-density lipoprotein (ox-LDL) and the antioxidant marker total antioxidant power (TAP). Everolimus treatment improved impaired social cognition and autistic behaviors ; however, seizure and epileptic activity persisted. Serum Cp and Tf levels gradually increased in response to improved autistic symptoms. Serum TAP levels gradually decreased from baseline to the lowest value at 16 weeks and then increased at 24 weeks, showing a trend toward decreased total score of the Aberrant Behavior Checklist. This study revealed that everolimus treatment improved impaired social cognition with increased serum levels of the copper mediator (Cp) and iron mediator (Tf) via homeostatic control of mTOR activity accompanied by overlap of the oxidant-antioxidant system. Everolimus had no effect on TSC-related epileptiform discharges, and thus, the autistic symptoms and epileptic activity may be two independent end results of a common central nervous system disorder including mTOR hyperactivity. This trial is registered with JMAS-IIA00258.

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