Pubmed du 12/03/20

jeudi 12 mars 2020

1. Barone R, Gulisano M, Amore R, Domini C, Milana MC, Giglio S, Madia F, Mattina T, Casabona A, Fichera M, Rizzo R. Clinical correlates in children with autism spectrum disorder and CNVs : systematic investigation in a clinical setting. Int J Dev Neurosci ;2020 (Mar 11)

Autism spectrum disorder (ASD) is associated with various molecular mechanisms including copy number variants (CNVs). We investigated possible associations between CNVs and ASD clinical correlates. We evaluated pertinent physical characteristics and phenotypic measures such as cognitive level, severity of ASD symptoms and comorbid conditions in ASD patients consecutively recruited over the study period. Children with causative (C-CNVs), non-causative (NC-CNVs) and without CNVs (W-CNVs) were compared. Out of 109 patients, 31 imbalances (16 duplications and 15 deletions) were detected in 25 subjects. Seven (6.4%) had C-CNVs and 18 (16.5%) had NC-CNVs. Paired post-hoc comparisons with Bonferroni adjustment showed that dysmorphisms and microcephaly were significantly more frequent in the C-CNVs group. Patients with C-CNVs had more severe autistic core symptoms, while comorbid internalizing behavioral symptoms were more represented among participants with NC-CNVs. No significant differences were observed for distribution of macrocephaly, intellectual disability, epilepsy, isolated electroencephalogram abnormalities and studied neuroimaging characteristics among groups. Recurrent and rare C-CNVs highlighting genes relevant to neurodevelopment had a statistically higher occurrence in children with more severe ASD symptoms and further developmental abnormalities. This study documents the importance of measuring the physical and neurobehavioural correlates of ASD phenotypes to unravel the underlying molecular mechanisms in patient subgroups.

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2. Carment L, Khoury E, Dupin L, Guedj L, Bendjemaa N, Cuenca M, Maier MA, Krebs MO, Lindberg PG, Amado I. Common vs. Distinct Visuomotor Control Deficits in Autism Spectrum Disorder and Schizophrenia. Autism Res ;2020 (Mar 10)

Autism spectrum disorder (ASD) and schizophrenia (SCZ) are neurodevelopmental disorders with partly overlapping clinical phenotypes including sensorimotor impairments. However, direct comparative studies on sensorimotor control across these two disorders are lacking. We set out to compare visuomotor upper limb impairment, quantitatively, in ASD and SCZ. Patients with ASD (N = 24) were compared to previously published data from healthy control participants (N = 24) and patients with SCZ (N = 24). All participants performed a visuomotor grip force-tracking task in single and dual-task conditions. The dual-task (high cognitive load) presented either visual distractors or required mental addition during grip force-tracking. Motor inhibition was measured by duration of force release and from principal component analysis (PCA) of the participant’s force-trajectory. Common impairments in patients with ASD and SCZ included increased force-tracking error in single-task condition compared to controls, a further increase in error in dual-task conditions, and prolonged duration of force release. These three sensorimotor impairments were found in both patient groups. In contrast, distinct impairments in patients with ASD included greater error under high cognitive load and delayed onset of force release compared to SCZ. The PCA inhibition component was higher in ASD than SCZ and controls, correlated to duration of force release, and explained group differences in tracking error. In conclusion, sensorimotor impairments related to motor inhibition are common to ASD and SCZ, but more severe in ASD, consistent with enhanced neurodevelopmental load in ASD. Furthermore, impaired motor anticipation may represent a further specific impairment in ASD. LAY SUMMARY : Autism spectrum disorder (ASD) and schizophrenia (SCZ) are neurodevelopmental disorders with partly overlapping and partly distinct clinical symptoms. Sensorimotor impairments rank among these symptoms, but it is less clear whether they are shared or distinct. In this study, we showed using a grip force task that sensorimotor impairments related to motor inhibition are common to ASD and SCZ, but more severe in ASD. Impaired motor anticipation may represent a further specific impairment in ASD.

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3. Carroll MS, Ramirez JM, Weese-Mayer DE. Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome. J Med Genet ;2020 (Mar 10)

BACKGROUND : Rett syndrome is a severe neurological disorder with a range of disabling autonomic and respiratory symptoms and resulting predominantly from variants in the methyl-CpG binding protein 2 gene on the long arm of the X-chromosome. As basic research begins to suggest potential treatments, sensitive measures of the dynamic phenotype are needed to evaluate the results of these research efforts. Here we test the hypothesis that the physiological fingerprint of Rett syndrome in a naturalistic environment differs from that of controls, and differs among genotypes within Rett syndrome. METHODS : A comprehensive array of heart rate variability, cardiorespiratory coupling and cardiac repolarisation measures were evaluated from an existing database of overnight and daytime inhome ambulatory recordings in 47 cases and matched controls. RESULTS : Differences between girls with Rett syndrome and matched controls were apparent in a range of autonomic measures, and suggest a shift towards sympathetic activation and/or parasympathetic inactivation. Daily temporal trends analysed in the context of circadian rhythms reveal alterations in amplitude and phase of diurnal patterns of autonomic balance. Further analysis by genotype class confirms a graded presentation of the Rett syndrome phenotype such that patients with early truncating mutations were most different from controls, while late truncating and missense mutations were least different from controls. CONCLUSIONS : Comprehensive autonomic measures from extensive inhome physiological measurements can detect subtle variations in the phenotype of girls with Rett syndrome, suggesting these techniques are suitable for guiding novel therapies.

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4. Grzadzinski R, Donovan K, Truong K, Nowell S, Lee H, Sideris J, Turner-Brown L, Baranek GT, Watson LR. Sensory Reactivity at 1 and 2 Years Old is Associated with ASD Severity During the Preschool Years. J Autism Dev Disord ;2020 (Mar 10)

Children with Autism Spectrum Disorder (ASD) often display atypical sensory reactivity within the first years of life, prior to a diagnosis. This study examined sensory reactivity patterns at 14 months, changes from 14 to 23 months, and later ASD severity at 3 to 5 years of age in children (n = 87) at elevated likelihood of ASD. Results indicated that observed hyporeactivity at 14 months and increases from 14 to 23 months were related to higher ASD severity during the preschool years. Parent report of hyperreactivity at 14 months was associated with higher ASD severity in the RRB domain during the preschool years. Early hypo and hyperreactivity may predict later severity of ASD and aid in subtyping and developing individualized treatments.

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5. Lavery LA, Ure K, Wan YW, Luo C, Trostle AJ, Wang W, Jin H, Lopez J, Lucero J, Durham MA, Castanon R, Nery JR, Liu Z, Goodell M, Ecker JR, Behrens MM, Zoghbi HY. Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife ;2020 (Mar 11) ;9

Methylated cytosine is an effector of epigenetic gene regulation. In the brain, Dnmt3a is the sole ’writer’ of atypical non-CpG methylation (mCH), and MeCP2 is the only known ’reader’ for mCH. We asked if MeCP2 is the sole reader for Dnmt3a dependent methylation by comparing mice lacking either protein in GABAergic inhibitory neurons. Loss of either protein causes overlapping and distinct features from the behavioral to molecular level. Loss of Dnmt3a causes global loss of mCH and a subset of mCG sites resulting in more widespread transcriptional alterations and severe neurological dysfunction than MeCP2 loss. These data suggest that MeCP2 is responsible for reading only part of the Dnmt3a dependent methylation in the brain. Importantly, the impact of MeCP2 on genes differentially expressed in both models shows a strong dependence on mCH, but not Dnmt3a dependent mCG, consistent with mCH playing a central role in the pathogenesis of Rett Syndrome.

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6. Novak I, Honan I. Reply to Foley and den Houting’s Letter : Occupational therapists’ use of autism terminology. Aust Occup Ther J ;2020 (Mar 12)

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7. Novell R, Esteba-Castillo S, Rodriguez E. Efficacy and safety of a GABAergic drug (Gamalate(R) B6) : effects on behavior and cognition in young adults with borderline-to-mild intellectual developmental disabilities and ADHD. Drugs Context ;2020 ;9:212601.

Background : We evaluated Gamalate(R) B6 (GB6) in patients with borderline intellectual functioning (BIF) or mild intellectual development disability (IDD). Patients and methods : This was a prospective phase IV observational pilot study in 30 patients who underwent neuropsychological evaluation during treatment with GB6 for 12 weeks. Results : In comparison with baseline, the responses were positive, with a significant improvement in hyperactivity (51.7%), irritability (35.5%), and logorrhea (50%), and no sedative effect. The Clinical Global Impressions - Severity (CGI-S) score was much improved or very much improved in 73% of cases. Reaction time was better with fewer errors, thus indicating an improvement in attentional processes. A statistically significant result was obtained for the number of movements used to solve the problem and for the total number of correctly solved problems. Conclusion : In this pilot study, GB6 was effective and well tolerated in cases of ADHD and challenging behavior in young adults with borderline-to-mild BIF/IDD. However, given the small number of patients involved and the uncontrolled nature of the study, these results should be viewed cautiously.

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8. Ratto AB, Potvin D, Pallathra AA, Saldana L, Kenworthy L. Parents report fewer executive functioning problems and repetitive behaviors in young dual-language speakers with autism. Child Neuropsychol ;2020 (Mar 11):1-17.

More dual language learners (DLLs) are being identified early with autism spectrum disorder (ASD). However, many families are still being advised against dual language exposure, despite a lack of evidence of negative impacts on language development in ASD. Research in typically developing children has noted advantages for bilinguals in domains such as executive functioning and social skills, but less is known about the effects in ASD. The present study evaluated differences in executive functioning and social communication in young children (n = 55) with ASD. Dual-language learners with ASD had significantly fewer parent reported executive functioning problems and repetitive behaviors ; parent-reported social communication skills were generally comparable across groups. Our findings indicate that the bilingual advantage in executive functioning may extend to children with neurodevelopmental conditions.

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9. Robinson SL, Parikh T, Lin T, Bell EM, Heisler E, Park H, Kus C, Stern JE, Yeung EH. Infertility treatment and autism risk using the Modified Checklist for Autism in Toddlers (M-CHAT). Hum Reprod ;2020 (Mar 12)

STUDY QUESTION : Are toddlers conceived by fertility treatment at higher risk of failing a screening tool for autism spectrum disorders (ASD) than toddlers not conceived by treatment ? SUMMARY ANSWER : Compared with children not conceived by infertility treatment, children conceived by any infertility treatment, ovulation induction with or without intrauterine insemination (OI/IUI), or assisted reproductive technologies (ART) appeared to have had higher odds of failing an ASD screening ; however, results were inconclusive and need replication. WHAT IS KNOWN ALREADY : Although most of the studies which have examined risk of ASD after ART show no association, the results are mixed. Thus, further studies are needed to clarify this association. STUDY DESIGN SIZE, DURATION : The Upstate KIDS Study is a population-based, prospective cohort study of children born in New York State between 2008 and 2010. Children were screened for ASD using the Modified Checklist for Autism in Toddlers (M-CHAT) at ages 18 and 24 months. PARTICIPANTS/MATERIALS, SETTING, AND METHODS : The New York State live-birth registry was used to identify newborns conceived with and without fertility treatment with a 1:3 ratio, frequency matched on region of birth. At 18 and 24 months, 3183 and 3063 mothers, respectively, completed the M-CHAT questionnaire. The current analysis included 2586 singletons and 1296 twins with M-CHAT information at 18 and/or 24 months. Multivariable logistic regression with generalized estimating equations (GEE) was used to estimate odds ratios (aOR) and 95% confidence intervals (CI) after adjustment for covariates such as maternal age, education and plurality. MAIN RESULTS AND THE ROLE OF CHANCE : We found that 200 (5.2%) and 115 (3.0%) children failed the M-CHAT at 18 and 24 months, respectively. The associations between use of infertility treatment and failing the M-CHAT at 18 and/or 24 months were positive but inconclusive as they failed to exclude no association (18 months aOR 1.71, 95% CI : 0.81-3.61 ; 24 months aOR 1.78, 95% CI : 0.66-4.81 ; and both 18 and 24 months aOR 1.53, 95% CI : 0.78-2.99). The relationships between OI/IUI and ART with M-CHAT failure at 18 and/or 24 months were similar to those of using any fertility treatment. In vitro fertilization with intracytoplasmic sperm injection was not consistently positively or inversely associated with M-CHAT failure at each time point (18 months aOR 1.20, 95% CI : 0.51-2.83 ; 24 months aOR 0.93, 95% CI : 0.37-2.31 ; and both 18 and 24 months aOR 1.09, 95% CI : 0.50-2.60). LIMITATIONS REASONS FOR CAUTION : The M-CHAT is a screening tool used for ASD risk assessment, and therefore, M-CHAT failure does not indicate ASD diagnosis. In addition, we did not have power to detect associations of small magnitude. Finally, non-response to follow-up may bias the results. WIDER IMPLICATIONS OF THE FINDINGS : Despite lack of precision, the positive associations between ART and M-CHAT failure suggest that larger population-based studies with longer follow-up are needed. STUDY FUNDING/COMPETING INTEREST(S) : Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD ; contracts HHSN275201200005C, HHSN267200700019C). The sponsor played no role in the study design, data collection, data analysis or interpretation, writing of the manuscript or decision to submit the article for publication. There are no conflicts of interest to declare. TRIAL REGISTRATION NUMBER : Not applicable.

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10. Syamkumar S, Dossetor D. Severe movement disorder and psychosis from haloperidol withdrawal in a 7-year-old girl with autism. J Paediatr Child Health ;2020 (Mar 12)

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