Pubmed du 25/10/19

vendredi 25 octobre 2019

1. Amor Salamanca A, Parra Uribe I. Where are the older autistic adults ? : a descriptive study in adult population. Actas Esp Psiquiatr ;2019 (Sep) ;47(5):202-208.

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2. Bacon EC, Moore A, Lee Q, Carter Barnes C, Courchesne E, Pierce K. Identifying prognostic markers in autism spectrum disorder using eye tracking. Autism ;2019 (Oct 24):1362361319878578.

While many children with autism spectrum disorder are now detected at young ages given the rise in screening and general awareness, little is known regarding the prognosis of early detected children. The brain is shaped by experience-dependent mechanisms ; thus, what a child pays attention to plays a pivotal role in shaping brain development. Eye tracking can provide an index of a child’s visual attention and, as such, holds promise as a technology for revealing prognostic markers. In this, 49 children aged 1-3 years with autism spectrum disorder participated in an eye-tracking test, the GeoPref Test, that revealed preference for social versus nonsocial images. Next, children participated in a comprehensive test battery 5-9 years following the initial GeoPref Test. Statistical tests examined whether early age eye tracking predicted later school-age outcomes in symptom severity, social functioning, adaptive behavior, joint attention, and IQ. Results indicated that toddlers with higher preference for geometric images demonstrated greater symptom severity and fewer gaze shifts at school age. This relationship was not found in relation to IQ or adaptive behavior. Overall, the GeoPref Test holds promise as a symptom severity prognostic tool ; further development of eye-tracking paradigms may enhance prognostic power and prove valuable in validating treatment progress.

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3. Booker SA, Domanski APF, Dando OR, Jackson AD, Isaac JTR, Hardingham GE, Wyllie DJA, Kind PC. Altered dendritic spine function and integration in a mouse model of fragile X syndrome. Nat Commun ;2019 (Oct 23) ;10(1):4813.

Cellular and circuit hyperexcitability are core features of fragile X syndrome and related autism spectrum disorder models. However, the cellular and synaptic bases of this hyperexcitability have proved elusive. We report in a mouse model of fragile X syndrome, glutamate uncaging onto individual dendritic spines yields stronger single-spine excitation than wild-type, with more silent spines. Furthermore, fewer spines are required to trigger an action potential with near-simultaneous uncaging at multiple spines. This is, in part, from increased dendritic gain due to increased intrinsic excitability, resulting from reduced hyperpolarization-activated currents, and increased NMDA receptor signaling. Using super-resolution microscopy we detect no change in dendritic spine morphology, indicating no structure-function relationship at this age. However, ultrastructural analysis shows a 3-fold increase in multiply-innervated spines, accounting for the increased single-spine glutamate currents. Thus, loss of FMRP causes abnormal synaptogenesis, leading to large numbers of poly-synaptic spines despite normal spine morphology, thus explaining the synaptic perturbations underlying circuit hyperexcitability.

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4. Gerber AH, Girard JM, Scott SB, Lerner MD. Alexithymia - Not autism - is associated with frequency of social interactions in adults. Behav Res Ther ;2019 (Sep 10) ;123:103477.

OBJECTIVE : While much is known about the quality of social behavior among neurotypical individuals and those with autism spectrum disorder (ASD), little work has evaluated quantity of social interactions. This study used ecological momentary assessment (EMA) to quantify in vivo daily patterns of social interaction in adults as a function of demographic and clinical factors. METHOD : Adults with and without ASD (NASD=23, NNeurotypical=52) were trained in an EMA protocol to report their social interactions via smartphone over one week. Participants completed measures of IQ, ASD symptom severity and alexithymia symptom severity. RESULTS : Cyclical multilevel models were used to account for nesting of observations. Results suggest a daily cyclical pattern of social interaction that was robust to ASD and alexithymia symptoms. Adults with ASD did not have fewer social interactions than neurotypical peers ; however, severity of alexithymia symptoms predicted fewer social interactions regardless of ASD status. CONCLUSIONS : These findings suggest that alexithymia, not ASD severity, may drive social isolation and highlight the need to reevaluate previously accepted notions regarding differences in social behavior utilizing modern methods.

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5. Karimzadeh P, Kheirollahi M, Houshmand SM, Dadgar S, Aryani O, Yaghini O. Clinical Feature and Genetics in Rett Syndrome : A Report on Iranian Patients. Iran J Child Neurol ;2019 (Fall) ;13(4):37-51.

Objectives : Rett syndrome is characterized by normal development for the first 6-18 months of life followed by the loss of fine and gross motor skills and the ability to engage in social interaction. In most patients, mutations are found in methyl CpG-binding protein 2 (MECP2) gene. We investigated the relation between Rett clinical diagnosis and mutations in MECP2. Materials & Methods : Children suspected of Rett syndrome were invited to participate in this study. Twenty-three patients from the Mofid Hospital, Tehran, Iran suffered from classic Rett syndrome diagnostic criteria were enrolled in 2012. The severity of symptoms was assessed for all of them. The peripheral blood samples were collected in EDTA tubes and the genomic DNA was extracted using standard salting out method. The mutation of MEPC2 gene was studied using DNA sequencing method. Results : Overall, 11(47.8%) patients had MECP2 gene mutation, while 12 cases (52.2%) had no mutations. Changes in genetics were associated with phenotypical manifestations. The most prevalent mutation was p.v288 mainly associated with partially or uncontrolled seizures. Conclusion : For the first time, we studies the Rett syndrome in terms of clinical manifestations and genetic changes in Iran.

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6. Naheed A, Islam MS, Hossain SW, Ahmed HU, Uddin MMJ, Tofail F, Hamadani JD, Hussain A, Munir K. Burden of major depressive disorder and quality of life among mothers of children with autism spectrum disorder in urban bangladesh. Autism Res ;2019 (Oct 24)

This cross-sectional study examined the burden of depression and quality of life (QoL) among mothers of children with autism spectrum disorder (ASD) attending six schools offering special educational services for children with ASD in urban Dhaka, Bangladesh. All consenting mothers were 18 years of age and older and met criteria for major depressive disorder (MDD) on the Structured Interview for DSM-V-TR Research Version-non patient edition administered by trained raters. QoL was assessed by the EuroQol five-dimensional standardized questionnaire. MDD was diagnosed in 45% of mothers and was proportionally higher among those who did not work outside the home, had no childcare support at home, expressed low level of satisfaction with the quality of providers when they had sought care for their children with ASD, and reported being recipient of negative attitudes from neighbors toward their children with ASD. QoL was negatively associated with MDD, mothers’ illness, and low satisfaction with the health care providers for children with ASD, as well as experiencing a negative attitude by neighbors toward their children. QoL was positively associated with the reported family monthly income and improvement of the children with ASD on school attendance. The prevalence of MDD among mothers of children with ASD was high and associated with poor QoL. Integrating mental health services and supports for mothers in the ASD care of children is likely to address the high burden of depression they face, and improve their overall quality of life. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : The levels of depression were assessed among mothers of children with autism spectrum disorder (ASD) attending six schools offering special educational services for children with ASD in urban Dhaka, Bangladesh. Almost one in two mothers was found to have major depression. The quality of life of these mothers was generally poor. Integrating mental health services for mothers with ASD care in children is likely to address the burden of depression among the mothers of children with ASD and improve overall quality of life.

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7. Pashazadeh Azari Z, Hosseini SA, Rassafiani M, Samadi SA, Hoseinzadeh S, Dunn W. Contextual Intervention Adapted for Autism Spectrum Disorder : An RCT of a Parenting Program with Parents of Children Diagnosed with Autism Spectrum Disorder (ASD). Iran J Child Neurol ;2019 (Fall) ;13(4):19-35.

Objectives : We investigated the effects of a manualized Contextual Intervention adapted for Autism Spectrum Disorders (CI-ASD), and essential elements of the intervention in promoting children’s participation and mothers’ parenting self-efficacy. Materials & Methods : In this randomized controlled trial, conducted in Tehran, Iran in 2017, participants (36 parents of children with ASD) were randomly assigned to wait-list control or intervention groups. The intervention comprised contextually re fl ective occupational therapy combines 3 elements : sensory processing patterns, coaching, and social support. We provided the program to promote child’s participation and parent’s efficiency. During phase 1, the participants in the intervention group received CI-ASD as long as Treatment As Usual (TAU) and during phase 2 they received TAU only. We completed the outcome measures at three-time points (pre-intervention, post-intervention, and follow-up). We conducted semi-structured interviews post-intervention to explore acceptability of intervention and participants’ experiences of CI-ASD. Results : CI-ASD can produce meaningful effects in eliminating sensory issues, promoting child participation and parenting efficiency in ASD families, compared to TAU. Parents reported high levels of acceptance and also confirmed the family’s achievements. Conclusion : These gains suggest CI-ASD as an effective intervention for children who have ASD and their families, but further studies are needed to declare and generalize the findings over time. Estimated effect sizes were in the large and medium ranges and favored the intervention group.

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8. Queen NJ, Boardman AA, Patel RS, Siu JJ, Mo X, Cao L. Environmental enrichment improves metabolic and behavioral health in the BTBR mouse model of autism. Psychoneuroendocrinology ;2019 (Oct 15) ;111:104476.

BTBR T+Itpr3tf/J (BTBR) mice are an Autism Spectrum Disorder (ASD)-like model that exhibit behavioral and physiological deficits similar to those observed in patients with ASD. While behavioral therapy is a first line of treatment in ASD patients, comparable non-pharmacological treatments are less explored in murine models. Here, we administer a bio-behavioral intervention for BTBR mice by way of environmental enrichment (EE) - an experimental housing paradigm previously shown to improve systemic metabolism, learning/memory, anxious behavior, neurogenesis, locomotion, and immunocompetence in C57BL/6 mice. Juvenile BTBR mice were randomized to standard or EE housing and were subjected to metabolic and behavioral assessments up to 17 weeks. Following EE exposure, we report an EE-induced metabolic and behavioral phenotype. Male BTBR mice responded metabolically to EE, displaying reduced adiposity, increased lean mass, improved glycemic control, and decreased circulating leptin. The gene expressions of brain-derived neurotrophic factor (Bdnf) and its receptor (Ntrk2/TrkB) were upregulated in several brain areas in EE-BTBR males. EE-BTBR females showed modest reduction of adiposity and no changes in glycemic control, circulating leptin, or Bdnf/Ntrk2 gene expression. With regard to behavior, EE resulted in decreased anxiety, and increased social affiliation. Together, these results suggest that EE improves metabolic and behavioral health in BTBR mice.

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9. Rodriguez-Seijas C, Gadow KD, Rosen TE, Kim H, Lerner MD, Eaton NR. A transdiagnostic model of psychiatric symptom co-occurrence and autism spectrum disorder. Autism Res ;2019 (Oct 24)

Understanding whether the co-occurrence of psychiatric symptoms within autism spectrum disorder (ASD) are specific to the ASD diagnosis or reflect similar higher-order patterns observed in both ASD and non-ASD samples, or a confluence of the two, is of critical importance. If similar, it would suggest that comorbid psychiatric conditions among individuals with ASD are not symptoms of specific, non-ASD psychiatric disorders per se, but reflect a general liability to psychopathology associated with ASD. To this end, the current study examined whether the higher-order structure of co-occurring psychiatric symptoms was the same within ASD and non-ASD youth. Parents of clinic-referred youth with (n = 280) and without (n = 943) ASD completed a DSM-IV-referenced psychiatric symptom rating scale. A confirmatory factor analytic framework was used to examine four levels of measurement invariance across groups to determine the extent to which transdiagnostic factors were comparable. Transdiagnostic factors were characterized by symptoms of the same disorders (configural invariance) and the same factor loadings across groups (metric invariance). Furthermore, both groups evidenced equivalent numbers of symptoms of most psychiatric conditions with the notable exceptions of attention deficit hyperactivity disorder (ADHD) and social anxiety (partial strong invariance), which were higher in the ASD sample. It was concluded that disparities in the co-occurrence of psychiatric symptoms between youth with and without ASD may be largely reflective of transdiagnostic factor level differences associated with ASD and not indicative of the ASD diagnosis per se. However, for ADHD and social anxiety, there appears to be some specific associations with the ASD diagnosis. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Few transdiagnostic dimensions relate common mental disorder diagnoses with one another. These dimensions explain psychiatric comorbidity (i.e., the finding that many persons possess several disorder diagnoses simultaneously). However, it is unclear if these dimensions differ among children with autism spectrum disorder (ASD), compared with their non-ASD counterparts. The results of this study demonstrate that underlying transdiagnostic dimensions are similar in both ASD and non-ASD children. However, there appear to be ASD-specific differences when it comes to social anxiety and attention deficit hyperactivity disorder.

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10. Soderstrom S, Ostby M, Bakken H, Ellingsen KE. How using assistive technology for cognitive impairments improves the participation and self-determination of young adults with intellectual developmental disabilities. J Intellect Disabil ;2019 (Oct 23):1744629519882582.

In Norway, where all citizens are entitled to live in their own homes in their local communities, people with intellectual disabilities receive community-based home care services that aim to promote their ability to live on their own. In our study, we investigated how using an assistive device for cognitive impairment - namely, a memo planner (MP) - in community-based home care services affected the everyday lives of people with intellectual developmental disabilities (IDD). Our sample consisted of seven young adults with IDD and their support staff. Data were collected during field observations and group interviews and analysed via systematic text condensation. The findings illuminate how using an MP can structure the daily lives of young adults with IDD and afford them opportunities to participate in everyday activities. In this article, we discuss how using an MP shapes interactions between people with IDD and their support staff.

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11. Takeshita E, Iida A, Abe-Hatano C, Nakagawa E, Sasaki M, Inoue K, Goto YI. Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome. Hum Genome Var ;2019 ;6:48.

Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2. The pathogenic variants presented here should be a useful resource for examining the correlation between the genotypes and phenotypes of RTT.

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12. Xia L, Ou J, Li K, Guo H, Hu Z, Bai T, Zhao J, Xia K, Zhang F. Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders. Autism Res ;2019 (Oct 24)

Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 x 10(-05) ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05) ) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05) ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 10(-05) ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (False discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders.

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13. Zaidman-Zait A. The contribution of maternal executive functions and active coping to dyadic affective dynamics : Children with autism spectrum disorder and their mothers. Autism ;2019 (Oct 24):1362361319854653.

Parenting is a cognitive, emotional, and behavioral endeavor, where parents’ control capacities, including executive functions and active control coping, help parents to guide and regulate interactions with their children ; yet limited research investigates how these capacities are associated with parent-child affective regulation processes during parent-child interactions. This study examined whether maternal executive functions (sustained attention, interference inhibitory control, working memory) and active engaged coping were related to dyadic affective flexibility and positive mutual affective interactions between mothers and their young children with autism spectrum disorders (N = 40). Dyadic flexibility and mutual positive affect were measured using dynamic systems-based modeling of second-by-second affective patterns during a mother-child interaction. The results showed that higher levels of maternal sustained attention and inhibitory control were related to increased dyadic affective flexibility. In addition, higher levels of maternal sustained attention and higher use of engaged coping were related to dyadic mutual positive affect. The findings highlight the importance of maternal cognitive control capacity in promoting adaptive parent-child dyadic regulatory processes.

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