Pubmed du 28/06/20

dimanche 28 juin 2020

1. Amaral DG, de Vries PJ. COVID-19 and Autism Research : Perspectives from Around the Globe. Autism Res ;2020 (Jun) ;13(6):844-869.

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2. Amin MR, Gentile JP, Edwards B, Davis M. Evaluation of Health Care Disparities for Individuals with Intellectual and Developmental Disabilities in Ohio. Community Ment Health J ;2020 (Jun 26)

The purpose of the study was to determine the acute and long term services and supports (LTSS) utilization, cost of health care and disparities in access of care for individuals with Intellectual and Developmental Disabilities (IDD). Individuals with IDD on a waiver (receiving Medicaid-funded LTSS in community settings) compared to non-IDD individuals on a waiver control group were compared using Ohio Medicaid claims data from calendar year 2013. Results found the IDD Waiver population had lower utilization rates for emergency department visits, hospital admissions, and hospital readmissions within 30 days compared to the Non-IDD Waiver population and lower PMPM expenditures across all medical service categories except pharmacy. However, the IDD Waiver population possessed greater PMPM costs for LTSS and therefore greater overall costs of care. Furthermore, 94% of IDD Waiver individuals had an episode of care for neurological conditions, with the second most frequent episode of care being for mental health services. The two most frequent episodes of care for individuals in the Non-IDD Waiver group were for conditions related to treatment (medical/surgical) and musculoskeletal conditions. The goal of this research was to investigate the health care needs of individuals with IDD that may vary from other long term care populations. The differences in health care needs for individuals with IDD require health systems and care management that is tailored to the sub-population, with an emphasis on treatment for neurological and mental health conditions. The typical focus of care management efforts on reducing unnecessary utilization of hospital services may be less relevant to the IDD Waiver population. The results of this study will be used to make recommendations regarding the unique health care needs of individuals with IDD.

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3. He WC, Zhang XJ, Zhang YQ, Zhang WJ. Elevated serum neurofilament light chain in children autism spectrum disorder : a case control study. Neurotoxicology ;2020 (Jun 24)

OBJECTIVE : We aimed to assess serum neurofilament light chain (sNfL) levels in autism spectrum disorder (ASD) and to investigate whether they are related to the severity of disease. METHODS : The cohorts consisted of 166 children aged 3-8 (83 children diagnosed with ASD and 83 children with typically-developing). sNfL were analyzed using Single Molecule Array (Simoa) technology. ASD symptom severity was assessed according to the Chinese version of the Childhood Autism Rating Scale (CARS) score. RESULTS : The mean age of those included ASD was 5.1 years (standard deviations [S.D.] : 1.7) and 78.3% were boys. The mean (SD) sNfL concentrations were significantly (P < 0.001) higher in ASD than in TP children (10.2[5.0] pg/ml and 7.1[3.2]pg/ml). For each 1 pg/ml increase of sNfL, the risk of ASD would increase by 19% (with the OR (unadjusted) of 1.19 [95% CI 1.10-1.29], P < 0.001) and 11% (with the OR (adjusted) of 1.11 [1.03-1.23], P < 0.001), respectively. sNfL concentrations in children with severe ASD were higher than in those children with mild-to-moderate ASD (12.4[5.1] pg/ml vs. 8.3[4.2]pg/ml ; P < 0.001). Among ASD cases, each 1 pg/ml increase of sNfL is associated with 20% higher unadjusted or 11% higher adjusted odds, respectively, of severe (vs. mild-to-moderate) ASD. CONCLUSIONS : The data showed that sNfL was elevated in ASD and related to symptom severity, suggesting that sNfL may play a role in ASD progression.

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4. Hudac CM, Bove J, Barber S, Duyzend M, Wallace A, Martin CL, Ledbetter DH, Hanson E, Goin-Kochel RP, Green-Snyder L, Chung WK, Eichler EE, Bernier RA. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Res ;2020 (Jun 28)

Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY : There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations.

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5. Linker SB, Mendes APD, Marchetto MC. IGF-1 treatment causes unique transcriptional response in neurons from individuals with idiopathic autism. Mol Autism ;2020 (Jun 26) ;11(1):55.

BACKGROUND : Research evidence accumulated in the past years in both rodent and human models for autism spectrum disorders (ASD) have established insulin-like growth factor 1 (IGF-1) as one of the most promising ASD therapeutic interventions to date. ASD is phenotypically and etiologically heterogeneous, making it challenging to uncover the underlying genetic and cellular pathophysiology of the condition ; and to efficiently design drugs with widespread clinical benefits. While IGF-1 effects have been comprehensively studied in the literature, how IGF-1 activity may lead to therapeutic recovery in the ASD context is still largely unknown. METHODS : In this study, we used a previously characterized neuronal population derived from induced pluripotent stem cells (iPSC) from neurotypical controls and idiopathic ASD individuals to study the transcriptional signature of acutely and chronically IGF-1-treated cells. RESULTS : We present a comprehensive list of differentially regulated genes and molecular interactions resulting from IGF-1 exposure in developing neurons from controls and ASD individuals. Our results indicate that IGF-1 treatment has a different impact on neurons from ASD patients compared to controls. Response to IGF-1 treatment in neurons derived from ASD patients was heterogeneous and correlated with IGF-1 receptor expression, indicating that IGF-1 response may have responder and non-responder distinctions across cohorts of ASD patients. Our results suggest that caution should be used when predicting the effect of IGF-1 treatment on ASD patients using neurotypical controls. Instead, IGF-1 response should be studied in the context of ASD patients’ neural cells. LIMITATIONS : The limitation of our study is that our cohort of eight sporadic ASD individuals is comorbid with macrocephaly in childhood. Future studies will address weather downstream transcriptional response of IGF-1 is comparable in non-macrocephalic ASD cohorts. CONCLUSIONS : The results presented in this study provide an important resource for researchers in the ASD field and underscore the necessity of using ASD patient lines to explore ASD neuronal-specific responses to drugs such as IGF-1. This study further helps to identify candidate pathways and targets for effective clinical intervention and may help to inform clinical trials in the future.

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6. Malhi P, Sankhyan N. Intentional Self Harm in Children with Autism. Indian J Pediatr ;2020 (Jun 26)

The study examined the demographic, socioeconomic, and clinical correlates of self injurious behaviors (SIBs) in a large clinical sample of children with autism spectrum disorder (ASD). A case record review of 1252 ASD children for whom complete information on socioeconomic background variables and presence/absence of SIBs was available were included. The overall prevalence of SIBs was 22.1% and the most prevalent SIBs were head banging (47%), followed by self hitting (27.8%). Several factors including age at diagnosis (t = 2.09, P = 0.037), education of mother (χ(2) = 14.48, P = 0.0001), presence of co-morbid medical condition (χ(2) = 4.22, P = 0.040), intellectual disability (χ(2) = 23.17, P = 0.0001), sensory processing abnormalities (χ(2) = 13.01, P = 0.0001), and severity of autism (χ(2) = 51.13, P = 0.0001) were found to be significantly associated with presence of SIBs. Logistic regression analysis revealed that severity of autism was the only significant predictor of SIBs. Intentional self harm is related with significant morbidity and needs early intervention.

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7. Skinner C, Pauly R, Skinner SA, Schroer RJ, Simensen RJ, Taylor HA, Friez MJ, DuPont BR, Stevenson RE. Autistic Disorder : A 20 Year Chronicle. J Autism Dev Disord ;2020 (Jun 26)

The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment : 1995-1998, follow up : 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort.

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8. Zlomke K, Rossetti K, Murphy J, Mallicoat K, Swingle H. Feeding Problems and Maternal Anxiety in Children with Autism Spectrum Disorder. Matern Child Health J ;2020 (Jun 28)

OBJECTIVES : For mothers of children with autism spectrum disorder (ASD), mealtimes can be stressful. Up to 90% of children with ASD present with problems related to food selectivity and disruptive mealtime behavior. Researchers have associated parent behaviors with maintained maladaptive feeding behaviors in children. Studies have also shown a positive association between children’s feeding problems and maternal concern for their children’s health, suggesting maternal anxiety and negative feelings may contribute to feeding issues. However, most research and subsequent interventions focus primarily on children. METHOD : Cross-sectional data was gathered from sixty-four mothers of children aged 2-8 with ASD visiting a developmental/behavioral pediatric clinic in the Southeastern U.S. who completed the Behavioral Pediatric Feeding Assessment Scale (BPFAS), assessing child feeding behavior and parent strategies for feeding problems, and the State-Trait Anxiety Inventory (STAI), measuring anxiety currently (state) and as an enduring characteristic (trait). RESULTS : Over 50% of mothers reported clinical difficulties with child feeding. Significant associations were found between child feeding behaviors and parent feelings/strategies related to child feeding. Maladaptive maternal feelings and strategies were also significantly related to both total anxiety (r = .299, p = .027) and trait anxiety (r = .368, p = .006). Although maternal anxiety explained significant variance in child feeding behavior, parent mealtime feeling/strategies were the strongest predictors of child feeding problems. CONCLUSIONS : Maternal anxiety and maladaptive feeding strategies correlate with problematic child feeding behaviors, suggesting that maternal feelings and strategies may contribute to the development and maintenance of feeding behaviors in children with ASD. Treatments that address feeding problems in children with ASD may also need to address maternal behaviors.

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