Pubmed du 23/11/19

samedi 23 novembre 2019

1. Alzghoul L. Role of Vitamin D in Autism Spectrum Disorder. Current pharmaceutical design. 2019.

Autism spectrum disorder (ASD) is a pervasive developmental disorder with heterogeneous etiology. Vitamin D and can function as fat soluble vitamin as well as a hormone, and can exert its effect via both genomic and non-genomic mechanisms. In the last decades, several studies have examined the relationship between vitamin D levels and ASD. These studies demonstrated that low vitamin D status in early development has been hypothesized as an environmental risk factor for ASD. Both in vivo and in vitro studies have demonstrated that vitamin D deficiency in early life can alter brain development, dysregulate neurotransmitter balance in the brain, decreases body and brain antioxidant ability, and alter immune system in ways that resemble common pathological features commonly seen ASD. In this review we focused on the association between vitamin D and ASD. In addition, the above mentioned mechanisms of action that link vitamin D deficiency with ASD were also discussed. Finally, clinical trials of vitamin D supplementation treatment of ASD have been also discussed.

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2. Crespi B. How is quantification of social deficits useful for studying autism and schizophrenia ?. Psychological medicine. 2019 : 1-3.


3. Fasulo A. A Different Conversation : Psychological Research and the Problem of Self in Autism. Integrative psychological & behavioral science. 2019.

Observations about peculiarities in the autistic population concerning type and frequency of references to subjective states, and lack of perspective taking, have been on the whole referred to as the paradox of the autistic self, i.e. a co-presence of ego-centeredness and weak self-referentiality (Lombardo & Baron Cohen 2010). Prevalent approaches in autism ascribe these peculiarities to high order disfunctions caused by neurological factors, such as defective self-encoding processes. Two narratives told by an adult man with Asperger during counselling are examined with Conversation Analysis ; the analysis identifies features that may lead to descriptions like the paradox of autistic self, but also reveals competences related to perspective-taking and narrative construction. Drawing on Bruner’s narrative theory, as well on recent interactional research on autism and the psychology of self, it is suggested that a relatively limited practice with narrative co-construction might be at the origin of the peculiarities observed. A socio-developmental approach to the understanding of autism not only can provide explanations compatible with first and second person accounts of life with autism, but can also open new paths for researching ways of self-construction that are less reliant on social interaction. The article finally challenges assumptions in psychological research about the ability of humans to access their internal states, and discusses how such assumptions can deter understanding of atypical populations.


4. Fielding-Gebhardt H, Warren SF, Brady NC. Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over Time in Fragile X Syndrome. J Autism Dev Disord. 2019.

Parenting children with neurodevelopmental disabilities is often challenging. Biological mothers of children with Fragile X Syndrome (FXS) may be susceptible to increased risk of mental health problems. This study examined the longitudinal relationships between maternal mental health, child challenging behaviors, and mother-child relationship quality in children and adolescents with FXS. Fifty-five mother-child dyads were followed from childhood into adolescence. The findings suggest that child challenging behaviors, maternal mental health, and mother-child relationship quality were stable during that period. Additionally, elevated levels of child challenging behaviors negatively impacted maternal mental health. Finally, child challenging behaviors, in combination with maternal mental health, influenced mother-child relationship quality. Clinical implications are discussed.


5. Gowen E, Vabalas A, Casson AJ, Poliakoff E. Instructions to attend to an observed action increase imitation in autistic adults. Autism. 2019 : 1362361319882810.

This study investigated whether reduced visual attention to an observed action might account for altered imitation in autistic adults. A total of 22 autistic and 22 non-autistic adults observed and then imitated videos of a hand producing sequences of movements that differed in vertical elevation while their hand and eye movements were recorded. Participants first performed a block of imitation trials with general instructions to imitate the action. They then performed a second block with explicit instructions to attend closely to the characteristics of the movement. Imitation was quantified according to how much participants modulated their movement between the different heights of the observed movements. In the general instruction condition, the autistic group modulated their movements significantly less compared to the non-autistic group. However, following instructions to attend to the movement, the autistic group showed equivalent imitation modulation to the non-autistic group. Eye movement recording showed that the autistic group spent significantly less time looking at the hand movement for both instruction conditions. These findings show that visual attention contributes to altered voluntary imitation in autistic individuals and have implications for therapies involving imitation as well as for autistic people’s ability to understand the actions of others.


6. Henry LA, Crane L, Fesser E, Harvey A, Palmer L, Wilcock R. The narrative coherence of witness transcripts in children on the autism spectrum. Res Dev Disabil. 2019 ; 96 : 103518.

BACKGROUND AND AIMS : Autistic children often recall fewer details about witnessed events than typically developing children (of comparable age and ability), although the information they recall is generally no less accurate. Previous research has not examined the narrative coherence of such accounts, despite higher quality narratives potentially being perceived more favourably by criminal justice professionals and juries. This study compared the narrative coherence of witness transcripts produced by autistic and typically developing (TD) children (ages 6-11years, IQs 70+). METHODS AND PROCEDURES : Secondary analysis was carried out on interview transcripts from a subset of 104 participants (autism=52, TD=52) who had taken part in a larger study of eyewitness skills in autistic and TD children. Groups were matched on chronological age, IQ and receptive language ability. Coding frameworks were adopted from existing narrative research, featuring elements of ’story grammar’. OUTCOMES AND RESULTS : Whilst fewer event details were reported by autistic children, there were no group differences in narrative coherence (number and diversity of ’story grammar’ elements used), narrative length or semantic diversity. CONCLUSIONS AND IMPLICATIONS : These findings suggest that the narrative coherence of autistic children’s witness accounts is equivalent to TD peers of comparable age and ability.


7. Kadlaskar G, Seidl A, Tager-Flusberg H, Nelson CA, Keehn B. Caregiver Touch-Speech Communication and Infant Responses in 12-Month-Olds at High Risk for Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Multimodal communication may facilitate attention in infants. This study examined the presentation of caregiver touch-only and touch + speech input to 12-month-olds at high (HRA) and low risk for ASD. Findings indicated that, although both groups received a greater number of touch + speech bouts compared to touch-only bouts, the duration of overall touch that overlapped with speech was significantly greater in the HRA group. Additionally, HRA infants were less responsive to touch-only bouts compared to touch + speech bouts suggesting that their mothers may use more touch + speech communication to elicit infant responses. Nonetheless, the exact role of touch in multimodal communication directed towards infants at high risk for ASD warrants further exploration.


8. Kover ST, Abbeduto L. Syntactic Ability of Girls With Fragile X Syndrome : Phonological Memory and Discourse Demands on Complex Sentence Use. Am J Intellect Dev Disabil. 2019 ; 124(6) : 511-34.

This study was designed to establish the extent of delay in complex sentence use by females with fragile X syndrome (FXS) and to identify sources of variability among individuals. Females with FXS (n = 16 ; 10 ;2-15 ;7) and younger typically developing girls (n = 17 ; 4 ;1-8 ;11) were group-wise matched on nonverbal cognition and receptive syntax. Language samples (conversation and narration) yielded syntactic complexity in terms of mean length of C-unit (MLCU) and Developmental Level sentence coding (DLevel ; Rosenberg & Abbeduto, 1987 ). Complex syntax was not weaker than developmental expectations ; however, MLCU was lower than expected for age. Phonological memory and verbal working memory correlated with measures of syntactic complexity in narration. Discourse demands may play an important role in the language produced by females with FXS.


9. Marquis S, McGrail K, Hayes MV. Using administrative data to examine variables affecting the mental health of siblings of children who have a developmental disability. Res Dev Disabil. 2019 ; 96 : 103516.

BACKGROUND : There is evidence that siblings of children with a developmental disability (DD) experience poorer mental health outcomes and increased stress compared to siblings of non-disabled children. The variables which contribute to this are unclear. AIMS : This study was designed to examine population-level and individual variables associated with differences in mental health outcomes among siblings of children who have a variety of developmental disabilities. METHODS : Population-level administrative health data covering 1985-2014 for the province of British Columbia, Canada were used to develop a cohort of over 45,000 children who have a sibling with a DD. Individual-level, demographic and health care services variables were used in logistic regression to assess their relationship to diagnoses of depression or other mental health problems. OUTCOMES : Odds of a diagnosis of depression or a mental health problem other than depression were associated with sex of the non-disabled sibling, sex of the child with the developmental disability, type of disability, birth order and income. CONCLUSIONS : Type of developmental disability, and characteristics of the non-disabled sibling and their family are associated with mental health outcomes of siblings of children with a DD.


10. McDiarmid TA, Belmadani M, Liang J, Meili F, Mathews EA, Mullen GP, Hendi A, Wong WR, Rand JB, Mizumoto K, Haas K, Pavlidis P, Rankin CH. Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation. Proceedings of the National Academy of Sciences of the United States of America. 2019.

A major challenge facing the genetics of autism spectrum disorders (ASDs) is the large and growing number of candidate risk genes and gene variants of unknown functional significance. Here, we used Caenorhabditis elegans to systematically functionally characterize ASD-associated genes in vivo. Using our custom machine vision system, we quantified 26 phenotypes spanning morphology, locomotion, tactile sensitivity, and habituation learning in 135 strains each carrying a mutation in an ortholog of an ASD-associated gene. We identified hundreds of genotype-phenotype relationships ranging from severe developmental delays and uncoordinated movement to subtle deficits in sensory and learning behaviors. We clustered genes by similarity in phenomic profiles and used epistasis analysis to discover parallel networks centered on CHD8*chd-7 and NLGN3*nlg-1 that underlie mechanosensory hyperresponsivity and impaired habituation learning. We then leveraged our data for in vivo functional assays to gauge missense variant effect. Expression of wild-type NLG-1 in nlg-1 mutant C. elegans rescued their sensory and learning impairments. Testing the rescuing ability of conserved ASD-associated neuroligin variants revealed varied partial loss of function despite proper subcellular localization. Finally, we used CRISPR-Cas9 auxin-inducible degradation to determine that phenotypic abnormalities caused by developmental loss of NLG-1 can be reversed by adult expression. This work charts the phenotypic landscape of ASD-associated genes, offers in vivo variant functional assays, and potential therapeutic targets for ASD.


11. Mello C, Rivard M, Terroux A, Mercier C. Quality of Life in Families of Young Children With Autism Spectrum Disorder. Am J Intellect Dev Disabil. 2019 ; 124(6) : 535-48.

The present study investigated family quality of life (FQOL) as experienced by 493 mothers and fathers (295 families) of young children with autism spectrum disorder (ASD) prior to receiving early intervention services in the province of Quebec. These families were most satisfied with their physical and material well-being and least satisfied with their family interactions. Children’s level of functioning across various standardized and subjective measures were positively associated with parents’ FQOL. In both parents, family characteristics associated with financial and personal resources were also linked to FQOL. The child’s age and the number of children were associated with mothers’ FQOL. Overall, these findings provide a portrait of ASD-related stressors and resources relevant to both parents during the early childhood period.


12. Ristori MV, Quagliariello A, Reddel S, Ianiro G, Vicari S, Gasbarrini A, Putignani L. Autism, Gastrointestinal Symptoms and Modulation of Gut Microbiota by Nutritional Interventions. Nutrients. 2019 ; 11(11).

Autism spectrum disorder (ASD) is a complex behavioral syndrome that is characterized by speech and language disorders, intellectual impairment, learning and motor dysfunctions. Several genetic and environmental factors are suspected to affect the ASD phenotype including air pollution, exposure to pesticides, maternal infections, inflammatory conditions, dietary factors or consumption of antibiotics during pregnancy. Many children with ASD shows abnormalities in gastrointestinal (GI) physiology, including increased intestinal permeability, overall microbiota alterations, and gut infection. Moreover, they are "picky eaters" and the existence of specific sensory patterns in ASD patients could represent one of the main aspects in hampering feeding. GI disorders are associated with an altered composition of the gut microbiota. Gut microbiome is able to communicate with brain activities through microbiota-derived signaling molecules, immune mediators, gut hormones as well as vagal and spinal afferent neurons. Since the diet induces changes in the intestinal microbiota and in the production of molecules, such as the SCFA, we wanted to investigate the role that nutritional intervention can have on GI microbiota composition and thus on its influence on behavior, GI symptoms and microbiota composition and report which are the beneficial effect on ASD conditions.


13. Wood JJ, Kendall PC, Wood KS, Kerns CM, Seltzer M, Small BJ, Lewin AB, Storch EA. Cognitive Behavioral Treatments for Anxiety in Children With Autism Spectrum Disorder : A Randomized Clinical Trial. JAMA Psychiatry. 2019.

Importance : Anxiety is common among youth with autism spectrum disorder (ASD), often interfering with adaptive functioning. Psychological therapies are commonly used to treat school-aged youth with ASD ; their efficacy has not been established. Objective : To compare the relative efficacy of 2 cognitive behavioral therapy (CBT) programs and treatment as usual (TAU) to assess treatment outcomes on maladaptive and interfering anxiety in children with ASD. The secondary objectives were to assess treatment outcomes on positive response, ASD symptom severity, and anxiety-associated adaptive functioning. Design, Setting, and Participants : This randomized clinical trial began recruitment in April 2014 at 3 universities in US cities. A volunteer sample of children (7-13 years) with ASD and maladaptive and interfering anxiety was randomized to standard-of-practice CBT, CBT adapted for ASD, or TAU. Independent evaluators were blinded to groupings. Data were collected through January 2017 and analyzed from December 2018 to February 2019. Interventions : The main features of standard-of-practice CBT were affect recognition, reappraisal, modeling/rehearsal, in vivo exposure tasks, and reinforcement. The CBT intervention adapted for ASD was similar but also addressed social communication and self-regulation challenges with perspective-taking training and behavior-analytic techniques. Main Outcomes and Measures : The primary outcome measure per a priori hypotheses was the Pediatric Anxiety Rating Scale. Secondary outcomes included treatment response on the Clinical Global Impressions-Improvement scale and checklist measures. Results : Of 214 children initially enrolled, 167 were randomized, 145 completed treatment, and 22 discontinued participation. Those who were not randomized failed to meet eligibility criteria (eg, confirmed ASD). There was no significant difference in discontinuation rates across conditions. Randomized children had a mean (SD) age of 9.9 (1.8) years ; 34 were female (20.5%). The CBT program adapted for ASD outperformed standard-of-practice CBT (mean [SD] Pediatric Anxiety Rating Scale score, 2.13 [0.91] [95% CI, 1.91-2.36] vs 2.43 [0.70] [95% CI, 2.25-2.62] ; P = .04) and TAU (2.93 [0.59] [95% CI, 2.63-3.22] ; P < .001). The CBT adapted for ASD also outperformed standard-of-practice CBT and TAU on parent-reported scales of internalizing symptoms (estimated group mean differences : adapted vs standard-of-practice CBT, -0.097 [95% CI, -0.172 to -0.023], P = .01 ; adapted CBT vs TAU, -0.126 [95% CI, -0.243 to -0.010] ; P = .04), ASD-associated social-communication symptoms (estimated group mean difference : adapted vs standard-of-practice CBT, -0.115 [95% CI, -0223 to -0.007] ; P = .04 ; adapted CBT vs TAU : -0.235 [95% CI,-0.406 to -0.065] ; P = .01) ; and anxiety-associated social functioning (estimated group mean difference : adapted vs standard-of-practice CBT, -0.160 [95% CI, -0.307 to -0.013] ; P = .04 ; adapted CBT vs TAU : -0.284 [95% CI, -0.515 to -0.053] ; P = .02). Both CBT conditions achieved higher rates of positive treatment response than TAU (BIACA, 61 of 66 [92.4%] ; Coping Cat, 47 of 58 [81.0%] ; TAU, 2 of 18 [11.1%] ; P < .001 for each comparison). Conclusions and Relevance : In this study, CBT was efficacious for children with ASD and interfering anxiety, and an adapted CBT approach showed additional advantages. It is recommended that clinicians providing psychological treatments to school-aged children with ASD consider developing CBT expertise. Trial Registration : identifier : NCT02028247.



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