Pubmed du 29/07/19

lundi 29 juillet 2019

1. Bedford R, Gliga T, Hendry A, Jones EJH, Pasco G, Charman T, Johnson MH, Pickles A. Infant regulatory function acts as a protective factor for later traits of autism spectrum disorder and attention deficit/hyperactivity disorder but not callous unemotional traits. J Neurodev Disord ;2019 (Jul 18) ;11(1):14.

BACKGROUND : Reduced executive functions (EF) are commonly associated with developmental conditions (e.g., autism spectrum disorder, ASD ; attention deficit/hyperactivity disorder, ADHD), although EF seems to be typical in children with callous unemotional (CU) traits. Regulatory function (RF) is a proposed infant precursor that maps on onto factors driving later EF. Here, we first test whether RF is specifically and negatively associated with ASD and ADHD traits, but not CU traits. Second, we test whether RF can act as a protective factor, by moderating the association between infant markers and subsequent ASD and ADHD traits. METHODS : Participants were 79 infants at high (N = 42) and low (N = 37) familial risk for ASD. Data come from the 14-month infant visit (Autism Observational Scale for Infants ; AOSI ; activity level and RF from the Infant Behavior Questionnaire ; IBQ) and the 7-year visit (ASD traits : Social Responsiveness Scale, SRS ; ADHD traits : Conners 3, CU traits : Inventory of Callous Unemotional Traits). RESULTS : Infant RF was negatively associated with later traits of ASD (B = - 0.5, p = 0.01) and ADHD inattention (B = - 0.24, p = 0.02) but not hyperactivity (B = - 0.25, p = 0.10) or CU traits (B = 0.02, p = 0.86). RF moderated the association between infant AOSI score and ASD traits, with a significant effect in those with low RF (B = 0.10, p = 0.006), not high RF (B = 0.01, p = 0.78). Similarly, for ADHD, infant activity level was associated with later ADHD inattention in those with low (B = 0.17, p = 0.04) but not high RF (B = 0.07, p = 0.48). For ADHD hyperactivity symptoms, activity level was predictive at both high and low levels of RF. CONCLUSIONS : Strong RF may allow children to compensate for other atypicalities, thus attenuating the association between infant markers and later disorder traits. Whilst infant RF was associated with both ASD and ADHD inattention traits, there was no association with ADHD hyperactivity or CU traits. This suggests that any protective effect may not be universal and emphasises the need for a better understanding of the underlying moderating mechanisms.

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2. Carnett A, Hansen S, McLay L, Neely L, Lang R. Quantitative-Analysis of Behavioral Interventions to Treat Sleep Problems in Children with Autism. Dev Neurorehabil ;2019 (Jul 29):1-14.

Sleep is an essential activity for human development. Often, children with autism spectrum disorder (ASD) are affected by a lack of sleep due to various types of sleep problems. We identified and analyzed studies that were aimed at utilizing sleep interventions for children with ASD. A systematic search of databases, reference lists, and ancestral searches identified 18 studies for inclusion. Studies were summarized in terms of (a) participants, (b) targeted sleep problem and measures, (d) intervention components, (e) research design and rigor, and (f) results. The aim of this review was to analyze the literature by evaluating the most commonly treated sleep problems, the various treatment components, and strength of the results using a between case parametric effect size estimate. The most commonly treated sleep problems were night wakings and bedtime disturbance. For interventions, all the studies incorporated multiple treatment components, most often including the use of a consistent bedtime routine. Effect size calculations indicated a moderate effect size, however, limited due to the small number of studies. Results suggest the overall effectiveness of behavioral interventions for the treatment of sleep problems for children with ASD. Based on our analysis, suggestions for practitioners regarding current practices and future directions for research are discussed.

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3. Hayward B, Loutaev I, Ding X, Nolin SL, Thurm A, Usdin K, Smith CB. Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles. Am J Med Genet A ;2019 (Jul 29)

Most cases of fragile X syndrome (FXS) result from aberrant methylation of the FMR1 gene. Methylation occurs when the number of tandemly arranged cytosine guanine guanine (CGG)-repeats in the 5’ end of the transcriptional unit of FMR1 exceeds a certain critical threshold, thought to be between 200 and 400 repeats. Such alleles are referred to as full mutation (FM) alleles. Premutation (PM) alleles, alleles with 55-200 repeats, are generally not aberrantly methylated and in fact may have hyperexpression of the FMR1 mRNA. We describe here a male who meets the diagnostic criteria for FXS, who is highly mosaic with a mixture of multiple PM and FM alleles and 50% methylation. However, the methylated alleles are limited to two alleles in the PM range, 165 and 175 repeats respectively, with the FM alleles being unmethylated. This finding has implications for FXS diagnosis as well as for efforts to delete the repeat in individuals with FXS using a CRISPR-Cas9 approach.

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4. Hong MP, Erickson CA. Investigational Drugs in Early Stage Clinical Trials for Autism Spectrum Disorder. Expert Opin Investig Drugs ;2019 (Jul 29)

Introduction : Pharmacologic interventions in Autism Spectrum Disorder (ASD) have historically focused on symptom-based approaches. However, a treatment for the core social deficits has remained unidentified. While a definitive theory for the cause of ASD is not yet known, recent advances in our understanding of ASD pathophysiology have opened the door for research on new pharmaceutical methods to target core symptomology. Areas covered : Herein, we review the novel pharmacologic therapies undergoing early stage clinical trials for the treatment of the social symptoms associated with ASD. Specifically, these strategies center on altering neurologic excitatory and inhibitory imbalance, neuropeptide abnormalities, immunologic dysfunction, and biochemical deficiencies in ASD. Expert opinion : Utilizing the growing field of knowledge regarding the pathological mechanisms and altered neurobiology of individuals with ASD has led to development of many innovative pharmaceutical interventions. Clinical trials for neurobiologic and immunologic targets show promise in impacting the social behavior and processing deficits in ASD but need evaluation in larger clinical trials and continued biomarker development to more effectively and consistently assess pharmacologic effects. Additionally, evaluating patient-specific drug responsivity and integrating behavioral intervention in conjunction with pharmacologic treatment is crucial to developing a successful approach to ASD treatment.

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5. Jariwala-Parikh K, Barnard M, Holmes ER, West-Strum D, Bentley JP, Banahan B, Khanna R. Autism Prevalence in the Medicaid Program and Healthcare Utilization and Costs Among Adult Enrollees Diagnosed with Autism. Adm Policy Ment Health ;2019 (Jul 27)

As the number of individuals diagnosed with autism increases, there is an increase in demand to provide support throughout their lifespan. This study aimed to : (1) estimate trends in the prevalence of autism diagnoses and medical services use in adults with autism diagnoses ; (2) assess predictors of healthcare utilization and costs among adults with autism diagnoses enrolled in Medicaid. A retrospective analysis of 2006-2008 Medicaid claims for 39 states was conducted. There was a 38% increase in the prevalence of autism diagnoses from 2006 to 2008. Total expenditures and outpatient and ER visits varied significantly by demographic variables.

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6. Miller IT, Wiederhold BK, Miller CS, Wiederhold MD. Virtual Reality Air Travel Training with Children on the Autism Spectrum : A Preliminary Report. Cyberpsychol Behav Soc Netw ;2019 (Jul 29)

Autism spectrum disorder (ASD) is categorized by deficits in social communication and interaction, alongside repetitive, restrictive behaviors or interests (RRBIs). Previous research supports the efficacy of virtual reality (VR) to train a variety of specific skills (i.e., riding a bus or crossing the street) as well as more complex social skills, such as emotion recognition and functional communication. The present reports the implementation of a VR-based air travel functional communication activity in five children diagnosed with ASD. Using an iPhone X and Google Cardboard device, researchers delivered the VR intervention once per week for 3 weeks to each participant. During these interventions, researchers measured activity completion ability on a 4-point scale. At week 4, all children participated in a real-world air travel rehearsal at the San Diego International Airport. Parents were asked to rate their child’s air travel abilities before week 1 and after week 4. All children improved their air travel skills from pre- to postintervention, reflected in both the researchers’ and parents’ observations. All children navigated the real-world airport under their own power. This preliminary report suggests the efficacy of VR to teach basic air travel skills to young children diagnosed with autism. Clinician observations regarding attention to the VR and strategies for helping participants accept the intervention technique are discussed. Future iterations of this program will require larger sample sizes and more robust clinical measurements-such as communication samples and physiological monitoring.

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7. Nguyen PH, Ocansey ME, Miller M, Le DTK, Schmidt RJ, Prado EL. The reliability and validity of the social responsiveness scale to measure autism symptomology in Vietnamese children. Autism Res ;2019 (Jul 29)

The Social Responsiveness Scale (SRS) has been validated in high-income countries but not yet in low- and middle-income countries. We aimed to assess the reliability of the SRS in a community sample and its validity to discriminate between children with and without autism spectrum disorder (ASD) in Vietnam. We used a three-phase study : piloting the translated SRS, reliability testing, and validation of the SRS in 158 Vietnamese caretakers and their children (ages 4-9 years). We examined reliability, validity and sensitivity, and specificity to ASD diagnosis. We applied receiver operator characteristic (ROC) analysis to determine optimal cutoff scores discriminating the children with ASD from those without ASD. We also assessed the performance of the SRS short form. We found that reliability was good with high internal consistency (0.88-0.89), test-retest reliability (0.82-0.83), sensitivity (93%), and specificity (98%) for identification of children with ASD. The ROC curves were similar for total raw score and total T-score, with the area under the curve (AUC) values reaching 0.98 and the optimal cutoff of 62 for raw scores and 60 for T-scores. The SRS short form also performed well in distinguishing children with ASD from children without ASD, with high AUC (0.98), sensitivity (90%), and specificity (98%) when using a raw score of 15 as a cutoff. In conclusion, the translated and culturally adapted SRS shows good reliability, validity, and sensitivity for identification of children with ASD in Vietnam. Both SRS long and short forms performed adequately to discriminate between children with and without ASD. Autism Res 2019, 00 : 1-13. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Middle-income countries often lack validated tools to evaluate autism symptoms. The Social Responsiveness Scale (SRS) translated to Vietnamese was reliable and performed well to distinguish between children with and without autism spectrum disorder in Vietnam. The Vietnamese SRS, and translations of the tool to other languages with this methodology, may be useful in pediatric practice, potentially allowing providers to make more appropriate referrals for diagnostic evaluations and identify children for intervention to help them fulfill their developmental potential.

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8. Rieske RD, Matson JL. Parental Age at Conception and the Relationship with Severity of Autism Symptoms. Dev Neurorehabil ;2019 (Jul 29):1-6.

Background : Previous research has examined the relationship between advanced parental age at conception and the incidence of autism, and has noted strong relationships between advanced parental age and other developmental disabilities. Aim : The purpose of this study was to confirm that and extend that knowledge to the association between advanced parental age and severity of autism symptoms as measured by a parental report of ASD symptom severity. Methods : The current study included 252 participants between the ages of 2-17 years and their parents. Results : Child’s gender and paternal age were found to be significant predictors of autism severity with males and children with older fathers at conception showing the highest severity. Interestingly, maternal age was not found to be a significant predictor of autism risk or severity of symptoms in this sample. Conclusion : Possible explanations for these findings are discussed, as well as future directions for research in this area.

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9. Wagner JB, Keehn B, Tager-Flusberg H, Nelson CA. Attentional bias to fearful faces in infants at high risk for autism spectrum disorder. Emotion ;2019 (Jul 29)

Individuals with autism spectrum disorder (ASD) and their first-degree relatives show differences from neurotypical individuals in emotional face processing. Prospective studies of infant siblings of children with ASD, a group at high risk for autism (HRA), allow researchers to examine the early emergence of these differences. This study used eye tracking to examine disengagement of attention from emotional faces (fearful, happy, neutral) at 6, 9, and 12 months in low-risk control infants (LRC) and HRA infants who received a subsequent clinical judgment of ASD (HRA+) or non-ASD (HRA-). Infants saw centrally presented faces followed by a peripheral distractor (with face remaining present). For each emotion, latency to shift to the distractor and percentage of trials with no shift were calculated. Results showed increased saccadic latency and a greater percentage of no-shift trials for fearful faces. No between-group differences were present for emotion ; however, there was an interaction between age and group for disengagement latency, with HRA+ infants slower to shift at 12 months compared with the other 2 groups. With HRA+ infants slower to shift at 12 months compared with the other groups. Exploratory correlational analyses looking at shift biases to fearful faces alongside measures of social behavior at 12 and 18 months (from the Communication and Symbolic Behavior Scales) revealed that for HRA+ infants, 9- and 12-month fear biases were significantly related to 12- and 18-month social abilities, respectively. This work suggests that both low- and high-risk infants show biases to threat-relevant faces, and that for HRA+, differences in attention shifting emerge with age, and a stronger fear bias could potentially relate to less social difficulty. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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10. Yingling ME. Participation in Part C Early Intervention : One Key to an Earlier Diagnosis of Autism Spectrum Disorder ?. J Pediatr ;2019 (Jul 24)

OBJECTIVE : To determine whether participation in a state early intervention program is associated with reduction in the age of diagnosis of autism spectrum disorder (ASD). STUDY DESIGN : State agency, Medicaid, and Census data were integrated for children with ASD enrolled in a Medicaid waiver between February 2007 and March 2015 (N = 1613). Ordinary least squares regression was used to estimate the relationship between participation in a state early intervention program and their age of diagnosis of ASD. RESULTS : The model explained 34% of variation in age of diagnosis (F[17,1595] = 49.20, P < .0001, adj R(2) = 0.34). After adjustment for key variables, compared with children who did not participate in early intervention, children who did participate were diagnosed 2 years earlier (beta = -23.97, P < .0001). CONCLUSIONS : Although conducted in only 1 state, this study suggests that participation in early intervention programs may be instrumental in earlier diagnosis of ASD. These findings underscore the importance of identifying children who qualify for early intervention programs, the value of encouraging childhood professionals (eg, early care providers and educators) to refer given documented barriers to pediatrician referral, and the need for research that identifies the mechanisms by which programs may promote earlier diagnosis (eg, service coordination, parent support).

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