Pubmed du 09/01/20

jeudi 9 janvier 2020

1. 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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2. Feng JY, Li HH, Wang B, Shan L, Jia FY. Successive clinical application of vitamin D and bumetanide in children with autism spectrum disorder : A case report. Medicine (Baltimore) ;2020 (Jan) ;99(2):e18661.

RATIONALE : Autism spectrum disorder (ASD) is a common neurodevelopmental disorder caused by complex interactions between genetic and environmental factors. Recent studies suggest that Vitamin D3 or bumetanide therapy may improve the core symptoms of ASD in some individuals. However, there are no guidelines that provide clinicians with evidence-based treatment regimens for the use of these therapies in ASD. PATIENT CONCERNS : A 30-month-old female was referred to our department because she did not respond when her name was called. DIAGNOSIS : The patient was diagnosed with ASD by a team of autism experts according to American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria. INTERVENTIONS : The patient was administered Vitamin D3 150,000 IU intramuscularly once a month and Vitamin D3 800 IU orally each day. After 6 months, Vitamin D3 supplementation was discontinued because of lack of effectiveness. Subsequently, oral bumetanide 0.5 mg twice daily was initiated. OUTCOMES : The patient’s symptoms remained unchanged after 6 months of Vitamin D3 supplementation, and her serum 25 (OH) D levels had reached 52.4 ng/mL. At the parent’s request, Vitamin D3 supplementation was discontinued because of lack of effectiveness. Thereafter, bumetanide was initiated. After 1 month of bumetanide, the patient’s Childhood Autism Rating Scale score was 26, which is below the cutoff score for ASD. This case report suggests that Vitamin D3 and bumetanide target different mechanisms in the pathogenesis of ASD. LESSONS : Based on these observations, we discuss three possible scenarios for Vitamin D3 supplementation and propose that bumetanide should be initiated if Vitamin D3 supplementation is ineffective (identifier ChiCTR-CCC-13004498).

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3. Frega M, Selten M, Mossink B, Keller JM, Linda K, Moerschen R, Qu J, Koerner P, Jansen S, Oudakker A, Kleefstra T, van Bokhoven H, Zhou H, Schubert D, Nadif Kasri N. Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype. Cell Rep ;2020 (Jan 7) ;30(1):173-186 e176.

Pathogenic mutations in either one of the epigenetic modifiers EHMT1, MBD5, MLL3, or SMARCB1 have been identified to be causative for Kleefstra syndrome spectrum (KSS), a neurodevelopmental disorder with clinical features of both intellectual disability (ID) and autism spectrum disorder (ASD). To understand how these variants lead to the phenotypic convergence in KSS, we employ a loss-of-function approach to assess neuronal network development at the molecular, single-cell, and network activity level. KSS-gene-deficient neuronal networks all develop into hyperactive networks with altered network organization and excitatory-inhibitory balance. Interestingly, even though transcriptional data reveal distinct regulatory mechanisms, KSS target genes share similar functions in regulating neuronal excitability and synaptic function, several of which are associated with ID and ASD. Our results show that KSS genes mainly converge at the level of neuronal network communication, providing insights into the pathophysiology of KSS and phenotypically congruent disorders.

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4. He Y, Byrge L, Kennedy DP. Nonreplication of functional connectivity differences in autism spectrum disorder across multiple sites and denoising strategies. Hum Brain Mapp ;2020 (Jan 9)

A rapidly growing number of studies on autism spectrum disorder (ASD) have used resting-state fMRI to identify alterations of functional connectivity, with the hope of identifying clinical biomarkers or underlying neural mechanisms. However, results have been largely inconsistent across studies, and there remains a pressing need to determine the primary factors influencing replicability. Here, we used resting-state fMRI data from the Autism Brain Imaging Data Exchange to investigate two potential factors : denoising strategy and data site (which differ in terms of sample, data acquisition, etc.). We examined the similarity of both group-averaged functional connectomes and group-level differences (ASD vs. control) across 33 denoising pipelines and four independently-acquired datasets. The group-averaged connectomes were highly consistent across pipelines (r = 0.92 +/- 0.06) and sites (r = 0.88 +/- 0.02). However, the group differences, while still consistent within site across pipelines (r = 0.76 +/- 0.12), were highly inconsistent across sites regardless of choice of denoising strategies (r = 0.07 +/- 0.04), suggesting lack of replication may be strongly influenced by site and/or cohort differences. Across-site similarity remained low even when considering the data at a large-scale network level or when considering only the most significant edges. We further show through an extensive literature survey that the parameters chosen in the current study (i.e., sample size, age range, preprocessing methods) are quite representative of the published literature. These results highlight the importance of examining replicability in future studies of ASD, and, more generally, call for extra caution when interpreting alterations in functional connectivity across groups of individuals.

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5. 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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6. Khoury E, Carment L, Lindberg P, Gaillard R, Krebs MO, Amado I. [Sensorimotor aspects and manual dexterity in autism spectrum disorders : A literature review]. Encephale ;2020 (Jan 9)

OBJECTIVES : Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by difficulties in communication and social interactions as well as by restricted and repetitive patterns of behavior and interests. They are frequently associated with motor signs. However, literature concerning these motor anomalies remains scarce when it comes to the adult population. Among motor aspects, those concerning manual motor skills warrant a particular attention as their alteration often persists through adulthood with a major impact on functioning and quality of life. The purpose of this article was to systematically review and analyze the literature on sensorimotor aspects and manual motor impairments in ASD. METHODS : We have searched the Medline database using the Pubmed search engine and retaining all articles published since the year 2000 with either their title, abstract or key-words containing the root autis* and any combination of the following terms : hand, manual, finger, dexterity, prehension, grip or grasp. Reference lists where also reviewed. After irrelevant articles were excluded, 33 studies were retained for this work. RESULTS : The basic motor anomaly in autism seems to be a deficit in sensorimotor integration. The central nervous system of individuals with ASD seems unable to efficiently extract sensory information and integrate it correctly into a motor plan and execution. This type of online correction aims to save time on the initial ballistic phase of a movement. Thus, its alteration results in generalized slowness and motor clumsiness that require retroactive feedback corrections. Moreover, difficulties in integrating external sensory information to correctly adapt movement to environmental requirements could explain stereotyped and inflexible behaviors characteristic of autism. The same sensorimotor alterations are found in both gross and fine manual dexterity tasks. They seem to persist significantly though adolescence and into adulthood. To explain these anomalies, the underlying neuroanatomical and neurofunctional substratum might be a hypoconnectivity within cortico-cerebellar tracts. However, several other cerebral structures are also implicated. A delay in the maturational processes of these structures appears to be the common determinant of motor signs found in ASD but also in neurodevelopmental disorders as a whole. CONCLUSIONS : Current works tackling motor aspects in autism comprise several limitations preventing homogenization of their findings. Firstly, characterization of the extremely diverse clinical forms of ASD does not always rely on the same clinical criteria or tools. Furthermore, the motor tasks and the clinical assessments used are not always the same across publications complicating comparison. Moreover, sample sizes are almost always small and only a few studies have addressed motor impairments in adults with ASD. Furthermore, only two studies examine the dynamic longitudinal evolution of motor aspects from childhood to adult age. Finally, despite a recent effort of a consistent number of publications converging towards the hypothesis of a deficit in sensorimotor integration, a common pathophysiological model explaining these deficits in ASD is lacking. A more precise description of these motor signs and further comprehension of the neurological mechanisms underpinning them would allow more tailored managements directed towards subgroups with more homogenous neurodevelopmental profiles.

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7. King C, Merrick H, Le Couteur A. How should we support young people with ASD and mental health problems as they navigate the transition to adult life including access to adult healthcare services. Epidemiol Psychiatr Sci ;2020 (Jan 9) ;29:e90.

For young people with autism spectrum disorder (ASD), the transition from childhood to adulthood especially for those with additional mental health problems can be challenging. Increasing numbers of young people attending child and adolescent mental health services (CAMHS) have a recognised diagnosis of ASD. What are the outcomes of these young people when they are discharged from CAMHS and how best can services support their needs ? In this editorial we consider the emerging literature on transition for young people with long-term conditions and in particular those with ASD. Longer term studies suggest that the outcomes for individuals with ASD across the ability range is mostly poor and that healthcare transfer has generally not been managed well, with service users often reporting a lack of appropriate types of support. Encouragingly there is an increasing awareness of the need to support young people with long-term conditions as they negotiate the many developmental tasks of transition to adulthood. However, less is known about the experiences and aspirations of autistic individuals of all abilities as they transition to adulthood. This knowledge can inform a more nuanced approach to identifying developmentally appropriate outcomes. Recent studies with cognitively able young people with ASD, highlight some features in common with young people with long-term conditions but also the importance of identifying ways to foster underlying skills and the ability of young people with ASD to develop and maintain relationships. Child-focussed and adult-orientated healthcare services need to work directly with autistic individuals and their support networks to facilitate successful engagement with services and enable adults to manage their mental health needs. There is an urgent need to investigate the implementation and effectiveness of research and clinical guideline recommendations that aim to increase wellbeing, health self-efficacy and improve the mental health outcomes for autistic adults.

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8. Kovtun AS, Averina OV, Alekseeva MG, Danilenko VN. Antibiotic Resistance Genes in the Gut Microbiota of Children with Autistic Spectrum Disorder as Possible Predictors of the Disease. Microb Drug Resist ;2020 (Jan 9)

The gut microbiota (GM), which contains thousands of bacterial species, is a reservoir of antibiotic resistance genes (ARGs) called resistome. Early life exposure to antibiotics alters significantly the composition and function of the gut microbiota of children, which may trigger symptoms of autism spectrum disorder (ASD). This is because the GM plays an important role in the bidirectional communication between the gut and the brain and influences the brain normal functioning through multiple pathways. The goal of this article is to study the distribution of ARGs in the GM of 3- to 5-year-old healthy children and children with ASD living in Moscow, Russia. The metagenomic analysis of samples from both groups revealed differences in the signatures between them. The signatures consisted of the bacterial genera and aminoglycoside, beta-lactam, macrolide, and tetracycline resistance genes that they harbored. Our results show an increase in ARGs in the resistome of the GM of children with ASD. These findings emphasize the negative influence of early-life antibiotic therapy. We found three ARGs, aac(6’)-aph(2’’), cepA-49, and tet(40), which could serve as markers of ASD. The additional functions carried out by the enzymes, encoded by these genes, are being discussed.

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9. Pohl AL, Crockford SK, Blakemore M, Allison C, Baron-Cohen S. A comparative study of autistic and non-autistic women’s experience of motherhood. Mol Autism ;2020 ;11:3.

Background : Autism is a lifelong neurodevelopmental difference and disability, yet there is limited research examining parenting in autistic mothers. Objective : To explore autistic mothers’ experience of the perinatal period and parenthood. This includes pregnancy, childbirth, the postpartum period, self-perception of parenting strengths and weaknesses, communication with professionals in relation to one’s child, mental health difficulties and the social experience of motherhood. It also includes disclosing one’s diagnosis of autism in parenting contexts. Methods : We used a community-based participatory research model, and recruited an advisory panel, with whom we co-developed an anonymous, online survey for autistic mothers. The online survey was completed by autistic and non-autistic mothers, and we compared their responses using Chi-squared analysis. Sample : Autistic mothers (n = 355), and non-autistic mothers (n = 132), each of whom had at least one autistic child, were included in our final analysis. Results : There were differences in education, gender identity and age of mother at birth of first child. Autistic mothers were more likely to have experienced additional psychiatric conditions, including pre- or post-partum depression, and reported greater difficulties in areas such as multi-tasking, coping with domestic responsibilities and creating social opportunities for their child. They were also more likely to report feeling misunderstood by professionals, and reported greater anxiety, higher rates of selective mutism, and not knowing which details were appropriate to share with professionals. They were also more likely to find motherhood an isolating experience, to worry about others judging their parenting, or feel unable to turn to others for support in parenting. However, despite these challenges, autistic mothers were able to act in the best interest of their child, putting their child’s needs first. Conclusions : Autistic mothers face unique challenges and the stigma associated with autism may further exacerbate communication difficulties. Greater understanding and acceptance amongst individuals who interact with autistic mothers is needed, and autistic mothers would benefit from additional and better-tailored support.

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10. Salcedo-Arellano MJ, Dufour B, McLennan Y, Martinez-Cerdeno V, Hagerman R. Fragile X syndrome and associated disorders : Clinical aspects and pathology. Neurobiol Dis ;2020 (Jan 9):104740.

This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin : the mutation of the FMR1 gene ; revealing the complexity of expansion genetics.

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11. 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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12. Sung IY, Jeon JY, Yun KJ, Yuk JS, Byun EM, Yoo HW, Ko TS, Kim HW, Jang DH. Development of tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years. Medicine (Baltimore) ;2020 (Jan) ;99(2):e18674.

This study was to develop tablet personal computer-based cognitive training programs for children with developmental disabilities whose cognitive age is less than 4 years. Twelve cognitive training programs (named Injini) were designed comprising cognitive domains that included attention, visual and auditory perception, memory, executive function, language, and reasoning. In addition, programs related to learning experiences, such as self-regulation, role play, learning of number, and letter/shape concepts, comparison, classification, and pattern matching, were included. Six of 12 programs comprised approximately 10 levels for each program, with different difficulty levels. Other programs consisted of universal tasks that did not have a difficulty level. To ensure that the difficulty level was appropriate, we pre-tested the pilot version of Injini among 80 children with typical development aged 18 to 41 months. After modifying the pilot version, we developed the final version and tested it among 80 children with cognitive impairment whose cognitive age was 18 to 41 months. All children were assessed using the Bayley Scales of Infant and Toddler Development to determine their development and cognitive age. The difficulty level analyses in children with typical development revealed several inappropriate results wherein the success rate did not decrease with increase in level in some programs. After adjusting the difficulty level, the analyses in children with cognitive impairment demonstrated that the success rate gradually decreased with increasing level in all programs. Cognitive training programs for children with developmental disabilities were successfully developed.

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13. Wang Q, Hoi SP, Wang Y, Lam CM, Fang F, Yi L. Gaze response to others’ gaze following in children with and without autism. J Abnorm Psychol ;2020 (Jan 9)

Joint attention (JA) is an important developmental precursor to overall social and cognitive abilities. Most previous studies on JA have focused on participants’ passive responses to others’ gaze directions. Using a computer-based gaze-contingent eye-tracking task, we explored time-course differences in the reciprocity of social gaze patterns in children with autism spectrum disorder (ASD) and in typically developing (TD) children. Specifically, we explored ASD and TD children’s gaze responses to others’ gaze following. In a trial, children first looked at one of two objects, and then a virtual face followed the children’s gaze toward the object that children looked at (congruent condition), looked toward another object instead (incongruent condition), or closed its eyes (closed-eye gaze condition). Eye movements were recorded during the experiment. We found that (a) TD children, but not children with ASD, showed different object-looking times across conditions, suggesting their sensitivity to virtual faces’ following their gaze ; (b) children with ASD looked at eyes less than TD children ; and (c) eye-looking time improved subsequent object-looking time in TD children, whereas it interfered with object-looking time in children with ASD. This study contributes to an understanding of the process of a more complex and reciprocal JA in TD children and the impairments of JA in children with ASD. Furthermore, it provides data relevant to understanding how JA may influence information processing and which aspects of JA are problematic for children with ASD. (PsycINFO Database Record (c) 2020 APA, all rights reserved).

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14. Zheng S, Hume KA, Able H, Bishop SL, Boyd BA. Exploring Developmental and Behavioral Heterogeneity among Preschoolers with ASD : A Cluster Analysis on Principal Components. Autism Res ;2020 (Jan 8)

Children with autism spectrum disorder (ASD) present with heterogeneous levels of abilities and deficits. The identification of subgroups within a specific age range could be useful for understanding prognosis and treatment planning. We applied Hierarchical Clustering on Principal Components (HCPC) with a sample of 188 preschoolers with ASD and identified three distinct subgroups based on multiple developmental and behavioral domains. Cluster 1 was characterized by relatively high cognitive, language and adaptive abilities, and relatively low levels of social symptoms, repetitive behaviors, and sensory issues within the sample. Cluster 2 was characterized by similarly high cognitive, language and adaptive abilities compared to Cluster 1, but more severe social deficits as well as repetitive and sensory behaviors. Finally, Cluster 3 was characterized by lower cognitive, language and adaptive abilities, and more severe social, repetitive, and sensory symptoms. These findings provide insights into how considering multiple developmental and behavioral domains and core autism symptoms simultaneously can distinguish subgroups of young children with ASD and provide more comprehensive developmental profiles. Moreover, the unique profile of children in Cluster 2 highlighted the usefulness of including different measures and informants when evaluating the abilities and deficits of preschoolers with ASD and the importance of understanding the relationships among different developmental and behavioral factors in this specific population. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Children with autism exhibit a range of abilities and deficits in different developmental and behavioral areas, making it difficult to tailor treatment and predict outcomes. We identified three distinct subgroups among 188 preschoolers with autism spectrum disorder distinguished by the combination of measures from multiple developmental and behavioral domains. The findings revealed the importance of comprehensive profiling of the child’s abilities and deficits to inform subgrouping within autism.

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