Pubmed du 11/01/20

samedi 11 janvier 2020

1. Arab AH, Elhawary NA. Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community. Neuropsychiatr Dis Treat ;2019 ;15:3569-3581.

Purpose : Several interacting genes or single nucleotide polymorphisms (SNPs) are vulnerable to the risk of autism spectrum disorder (ASD). Here we explored associations between SNPs in the methylenetetrahydrofolate reductase (MTHFR) gene or combined genotypes and the risk of ASD in a Saudi community. Subjects and methods : ASD severity symptoms were assessed according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) criteria and scores on the childhood autism rating scale (CARS). Genomic DNA from buccal cells was analyzed for 112 cases and 104 healthy controls using TaqMan genotyping assays of 677C>T rs1801133 and 1298A>C rs1801131 SNPs in the MTHFR gene. SNPStats software was utilized to determine the best interactive model of inheritance of genotypic data. Results : Controls were consistent with Hardy-Weinberg equilibrium in the examined SNPs. Our data showed associations between the 677C>T and 1298A>C SNPs and ASD risk (odds ratio [OR]= 5.2 ; 95% confidence interval [CI], 3.1-9.8 and OR= 22.2 ; 95% CI, 7.9-62.3, respectively). Genotype associations of 677C>T and 1298A>C were identified in cases compared with controls (P= 0.0012 and P= 0.0008, respectively). The examined SNPs were significantly associated with ASD cases having >/=37 scores (codominant and recessive models ; P= 0.001 and P= 0.0005, respectively). Six combined genotypes-C/C-A/A (42.9%), C/T-A/A (17.9%), C/T-C/C (14.5%), C/T-A/C (10.9%), T/T-C/C (10.9%), and T/T-A/A (3.6%)-were found in ASD cases. Global haplotype analysis showed a significant difference in haplotype distribution between cases and controls (P= 0.00057). The two SNPs were found to be in relatively strong linkage disequilibrium (D`= 0.63, r (2)= 0.260). Conclusion : Our findings suggest that the 677C>T and 1298A>C SNPs add to each other for potential vulnerability to increase the risk of ASD, particularly if they can be confirmed in larger cohorts along with other genetic/environmental factors. Our study could create reference data for future genetic association studies in the Saudi population and for use by government and health experts to develop regional health management programs.

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2. Carter EW, Carlton ME, Travers HE. Seeing strengths : Young adults and their siblings with autism or intellectual disability. J Appl Res Intellect Disabil ;2020 (Jan 9)

BACKGROUND : Understanding the positive qualities of individuals with intellectual and developmental disabilities can provide a much-needed counterpoint to deficit-based depictions of disability. METHOD : This study examined how 163 young adults (ages 18-30) viewed the strengths of their brothers and sisters with intellectual disability or autism using the Assessment Scale for Positive Character Traits-Developmental Disabilities (Woodard, 2009). In addition, the authors examined factors that may shape their perspectives. RESULTS : Overall, siblings’ ratings of strengths were moderate to high, indicating an overall portrait of strengths. The majority of brothers and sisters with disabilities was described as having multiple strengths and their profiles on this measure were highly individualized. Lower overall ratings were associated with several variables, including not using speech as a primary mode of communication, exhibiting challenging behaviours, having autism and not currently living together. CONCLUSIONS : The authors offer recommendations for future research and practice related to supporting siblings with and without disabilities.

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3. Escolano-Perez E, Acero-Ferrero M, Herrero-Nivela ML. Improvement of Planning Skills in Children With Autism Spectrum Disorder After an Educational Intervention : A Study From a Mixed Methods Approach. Front Psychol ;2019 ;10:2824.

The literature confirms that individuals with autism spectrum disorder (ASD) have planning deficits. However, few interventions have targeted these deficits. The aims of this study were to : (1) show that the mixed methods approach can be useful in studying planning skills of children with ASD during and after an educational intervention ; (2) assess whether the planning skills of two groups of children with ASD improved during the intervention and if this progress was maintained 1 month after completing the intervention. The groups were formed depending on each child’s severity level (SL) of ASD according to DSM-5 : SL1 (requiring support) and SL2 (requiring substantial support). Each group was composed of four children. In the framework of mixed methods, we used observational methodology, which is considered as mixed methods in itself because it integrates qualitative and quantitative elements. A nomothetic/follow-up/multidimensional observational design was used. Planning skills manifested by children during the intervention were codified, as well as the scaffolding behaviors provided by the educational specialist. These skills and behaviors were also coded in one session, which took place 1 month after the intervention. Coded data of each group were submitted to prospective and retrospective lag sequential analysis. This informed of the sequential structure of planning skills performed by children in interaction with the educational specialist at the beginning and at the end of the intervention, as well as 1 month later after the intervention. The comparison of the patterns obtained in these three temporal moments allowed us to know the improvement of the two groups in the use of planning skills. Results showed that both groups improved their autonomous use of planning skills. However, SL1 group used successfully and autonomously complex planning skills, while SL2 group were unable to achieve this gain. SL2 group progressed in autonomy, but only using basic planning skills. Both groups can further improve their use of planning skills ; therefore, the intervention should be adjusted to their characteristics and temporarily extended. These findings contribute to the, as yet, little studied field of intervention and assessment of planning skills in children with ASD using a mixed methods approach.

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4. Frazier TW, Goodwin MS. Developing more clinically useful biomarkers in autism spectrum disorder. Dev Med Child Neurol ;2020 (Feb) ;62(2):153.

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5. Ghozy S, Tran L, Naveed S, Quynh TTH, Helmy Zayan A, Waqas A, Sayed AKH, Karimzadeh S, Hirayama K, Huy NT. Association of breastfeeding status with risk of autism spectrum disorder : A systematic review, dose-response analysis and meta-analysis. Asian J Psychiatr ;2019 (Dec 27) ;48:101916.

Current evidence indicates that nutritional status in newborns, especially the duration of breastfeeding, plays a key role in the pathogenesis of autism spectrum disorder. We aimed to systematically review and meta-analyze relevant studies with findings of an association between autism spectrum disorder and breastfeeding patterns, and undertook an extensive dose-response analysis to interpret the results more accurately. Ten electronic databases and manual search of reference lists were used to identify relevant studies in September 2018. Dose-response and conventional meta-analysis were conducted by the random-effects model. The study protocol was registered in PROSPERO with CRD42016043128. Seven case-control studies were found in which the association between ever breastfeeding and risk of autism spectrum disorder was investigated. We found a 58 % decrease in the risk of autism spectrum disorder with ever breastfeeding and a 76 % decrease in the risk with exclusive breastfeeding. According to our dose-response meta-analysis, breastfeeding for 6 months was associated with a 54 % reduction in the risk. In the conventional meta-analysis, breastfeeding for 12-24 months was associated with the most significant reduction in the risk of autism spectrum disorder. Our results highlight the importance of breastfeeding to decrease the risk of autism spectrum disorder.

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6. Hofvander B, Bering S, Tarnhall A, Wallinius M, Billstedt E. Few Differences in the Externalizing and Criminal History of Young Violent Offenders With and Without Autism Spectrum Disorders. Front Psychiatry ;2019 ;10:911.

Autism spectrum disorders (ASDs) are known to be associated with an increased risk of aggression and challenging behavior. In this study, we have mapped the externalizing history of a nationally representative cohort of young violent offenders with ASD, compared with offenders without ASD. Two hundred and sixty-nine violent offenders were assessed for prevalence of ASD, and participated in a thorough assessment of previous externalizing problems and criminal history. Twenty-six offenders met consensus clinical DSM-IV criteria for ASD and they were compared to offenders without ASD from the same cohort. Overall, we found a very high prevalence of externalizing and antisocial behaviors in the history of these offenders and there were few differences between the groups. Placements in foster homes were overrepresented in the ASD group and the ASD-offenders had significantly more often been diagnosed with a neurodevelopmental disorder (i.e. ASD or ADHD) by a clinician before the study. At index conviction, ASD offenders were overrepresented in sex crimes with a child victim. Though offenders without ASD had more previous convictions, in particular drug crimes, we found no difference in terms of total number of prosecuted crimes. Substance use disorders were more common among offenders without ASD. The ASD offenders scored higher compared to the non-ASD offenders on the Affective facet of the Psychopathy Checklist-Revised (PCL-R) but there were no differences in terms of total PCL-R scores. Our results provide important knowledge of the developmental history of offenders with ASD. Though this is a small and atypical phenotype it poses significant challenges to the criminal justice system and we need to understand more of it to be able to prevent these individuals from committing crimes but also to provide a fair judicial treatment, to assess exculpatory factors and improve our forensic treatment models.

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7. Jiao J, Zhang M, Yang P, Huang Y, Hu X, Cai J, Yang C, Si-Tu M, Zhang H, Fu L, Guo K. [Analysis of common genetic variants associated with neuro-synapse development among 60 family trios affected with sporadic autism spectrum disorders]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Jan 10) ;37(1):1-4.

OBJECTIVE : To explore susceptibility genes for autism spectrum disorders (ASD). METHODS : Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related genes associated with neural and neurite triggering were screened for the candidates. RESULTS : A total of 170 common variants were found to be associated with the ASD phenotype. Among these, there was only one high-confidence gene [SHANK2(0.8146)] and four medium-confidence genes [ERBB2(0.1322), LAMC3(0.1117), PPFIA4(0.1059), DISC1(0.1002)]. Twenty-pathways and four biological processes were found to be statistically significant by pathway enrichment analysis, which included neuron projection morphogenesis (GO : 0048812), regulation of neuroblast proliferation (GO : 1902692), modulation of excitatory postsynaptic potential (GO : 0098815), and dendrite morphogenesis (GO : 0048813). Twenty-one genes were found to be closely associated with neurological and neurite triggering, among which only SHANK2, ERBB2, and DISC1 had above-medium confidence correlation scores with the ASD phenotypes. CONCLUSION : Abnormal neuron projection morphogenesis (GO : 0048812) may be closely related to the occurrence of ASD. SHANK2, ERBB2, and DISC1 are susceptibility genes for ASD.

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8. Kenan N, Zachor DA, Watson LR, Ben-Itzchak E. Semantic-Pragmatic Impairment in the Narratives of Children With Autism Spectrum Disorders. Front Psychol ;2019 ;10:2756.

Narrative impairments are common in autism spectrum disorders (ASDs). The Autism Diagnostic Observation Schedule (ADOS) battery includes a story-telling activity using a picture book called Tuesday. The current study aimed to identify differences between children with ASD and children with typical development (TD) on the production of Tuesday narratives, with a special focus on semantic-pragmatic aspects. Participants were 48 cognitively-able boys, in the age range of 4 ;10-7 ;0 years. Twenty-four participants were boys with ASD and 24 participants were TD boys. The semantic-pragmatic analysis included measures of : story details (characters setting, objects, and actions), central ideas, evaluative comments, and unrelated text. Results showed that the narratives produced by children with ASD included fewer central ideas, and fewer settings, characters, and actions, but not objects, as compared with the narratives produced by their TD peers. The number of evaluative comments and utterances that were unrelated to the story did not differ between the groups. A negative correlation was found between the autism severity level and the number of central ideas and number of characters mentioned in the narratives of the ASD participants. Taken together, as a group, these findings point to a semantic-pragmatic impairment in ASD. However, individual analysis revealed heterogeneity within the ASD group in this area. Some of the results may be explained by cognitive deficits in maintaining central coherence (the Weak Central Coherence account). This study has important clinical implications. Defining the specific differentiating measures can maximize the use of the ADOS story-telling activity by clinicians. The association found between the autism severity level and some of the semantic measures can be used in evaluating the severity of the ASD symptoms.

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9. Khanna RK, Kovarski K, Arsene S, Siwiaszczyk M, Pisella PJ, Bonnet-Brilhault F, Batty M, Malvy J. Ophthalmological findings in children with autism spectrum disorder. Graefes Arch Clin Exp Ophthalmol ;2020 (Jan 9)

PURPOSE : Eye pathology could be related to atypical visual behaviours and impaired social communication through visual cues in children with autism spectrum disorder (ASD). The main purpose of this prospective study was to assess ophthalmological disorders in children with ASD and to investigate the relationships with intellectual disability (ID) and ASD severity. METHODS : In this prospective study, comprehensive ophthalmological and oculomotor examinations were performed. ASD severity and verbal and performance intelligence quotients were determined using adapted scales. These clinical data were compared between groups of children based on the presence or absence of ophthalmological disorders and the achievement or not of visual acuity (VA) testing by using non-parametric statistical tests. RESULTS : Amongst a sample of 51 children, ophthalmological disorders were found in 39% of cases, with 35% having significant refractive errors and 10% presenting with strabismus. Children with ASD and ophthalmological disorders had significantly lower verbal (29.8 +/- 14.7 compared with 44.3 +/- 21.5 ; p = 0.010) and performance quotients (57.8 +/- 18.3 compared with 67.59 +/- 20 ; p = 0.049) but no significant result was found between the presence of ophthalmological disorders and ASD severity, level of communication and social contact, or modulating behaviour when changes occur. Children who did not achieve monocular VA testing (39%) had significantly lower verbal (25.1 +/- 9.7 compared with 46.1 +/- 20.9 ; p < 0.001) and performance quotients (52.7 +/- 17 compared with 69.8 +/- 18.8 ; p = 0.001), also presented higher social interaction impairment (p = 0.002), and expressed more important behavioural signs (p = 0.007). CONCLUSIONS : Ophthalmological disorders are frequently found in children with ASD, especially in those with ID. Ophthalmologists and child psychiatrists should pay attention to perform ophthalmological examination in children with ASD since eye disorders might remain undetected. A comprehensive examination by a paediatric ophthalmologist would help to improve the individual clinical description and the global intervention. TRIAL REGISTRATION : Clinical trial registration number : NCT02444117.

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10. Lecheler M, Lasser J, Vaughan PW, Leal J, Ordetx K, Bischofberger M. A Matter of Perspective : An Exploratory Study of a Theory of Mind Autism Intervention for Adolescents. Psychol Rep ;2020 (Jan 10):33294119898120.

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11. Pahlman M, Gillberg C, Wentz E, Himmelmann K. Autism spectrum disorder and attention-deficit/hyperactivity disorder in children with cerebral palsy : results from screening in a population-based group. Eur Child Adolesc Psychiatry ;2020 (Jan 11)

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are more common in children with cerebral palsy (CP) than in the general population, but may still be underdiagnosed. This study aimed to estimate screen-positive ASD and ADHD in a population-based group of 264 school-aged children with CP born 1999-2006 from the CP register of western Sweden. Validated parent-completed questionnaires were used at a median age of 12 years 11 months (range 8-17 years). Three different scales were used to detect signs of ASD and ADHD, respectively. Response rate was 88% (232/264). In 19 children, all in the most disabled group, the screening procedure was not feasible due to too few questionnaire items completed, leaving 213 for analyses. One third (74/213) of the children screened positive for ASD and half of the children (106/213) for ADHD, which was about twice as often as ASD/ADHD diagnoses had been clinically identified. Children with intellectual disability, epilepsy and/or impaired speech ability more often screened positive for ASD as well as ADHD. Severe motor impairment was more frequently associated with screen-positive ASD, but not ADHD. Neither sex nor CP type was associated with screen-positive ASD/ADHD. In conclusion, school-aged children with CP very often screened positive for ASD and/or ADHD. The prevalence of ASD and ADHD is most likely underestimated in children with CP. These screening findings require further investigations.

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12. Pereira JA, Sepulveda P, Rana M, Montalba C, Tejos C, Torres R, Sitaram R, Ruiz S. Self-Regulation of the Fusiform Face Area in Autism Spectrum : A Feasibility Study With Real-Time fMRI Neurofeedback. Front Hum Neurosci ;2019 ;13:446.

One of the most important and early impairments in autism spectrum disorder (ASD) is the abnormal visual processing of human faces. This deficit has been associated with hypoactivation of the fusiform face area (FFA), one of the main hubs of the face-processing network. Neurofeedback based on real-time fMRI (rtfMRI-NF) is a technique that allows the self-regulation of circumscribed brain regions, leading to specific neural modulation and behavioral changes. The aim of the present study was to train participants with ASD to achieve up-regulation of the FFA using rtfMRI-NF, to investigate the neural effects of FFA up-regulation in ASD. For this purpose, three groups of volunteers with normal I.Q. and fluent language were recruited to participate in a rtfMRI-NF protocol of eight training runs in 2 days. Five subjects with ASD participated as part of the experimental group and received contingent feedback to up-regulate bilateral FFA. Two control groups, each one with three participants with typical development (TD), underwent the same protocol : one group with contingent feedback and the other with sham feedback. Whole-brain and functional connectivity analysis using each fusiform gyrus as independent seeds were carried out. The results show that individuals with TD and ASD can achieve FFA up-regulation with contingent feedback. RtfMRI-NF in ASD produced more numerous and stronger short-range connections among brain areas of the ventral visual stream and an absence of the long-range connections to insula and inferior frontal gyrus, as observed in TD subjects. Recruitment of inferior frontal gyrus was observed in both groups during FAA up-regulation. However, insula and caudate nucleus were only recruited in subjects with TD. These results could be explained from a neurodevelopment perspective as a lack of the normal specialization of visual processing areas, and a compensatory mechanism to process visual information of faces. RtfMRI-NF emerges as a potential tool to study visual processing network in ASD, and to explore its clinical potential.

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13. Shepherd D, Goedeke S, Landon J, Meads J. The Types and Functions of Social Supports Used by Parents Caring for a Child With Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Jan 9)

The challenges faced by parents caring for a child with Autism Spectrum Disorder (ASD) can amplify parenting stress, though the impacts of these challenges can be alleviated by social supports. A sample of 674 parent volunteers completed a survey probing the types of social supports currently being used, what function (i.e., tangible, emotional, financial, informational) they judged them to perform, and how each of the utilised supports reduced parenting stress and was considered helpful. Results indicated that informal social supports and social media were perceived as more helpful than formal supports, which were typically perceived in a neutral manner by parents. Overall, the study indicates that addressing the support needs of parents of a child with ASD remains a priority.

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14. Wang Q, Li Q, Xu Q, Liu Y, Yuan H. [Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Jan 10) ;37(1):52-56.

OBJECTIVE : To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication. METHODS : Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members. RESULTS : A 5.7 Mb duplication at 17q25.3—>qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal. CONCLUSION : Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.

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15. Zhuang J, Wang Y, Zeng S, Wang J, Jiang Y. [Clinical and genetic study of a child with 15q11.2 microduplication]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Jan 10) ;37(1):64-66.

OBJECTIVE : To explore the genetic basis of a child with developmental delay and intellectual disability. METHODS : Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis. RESULTS : No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus. CONCLUSION : 15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.

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