Pubmed du 26/07/19

vendredi 26 juillet 2019

1. Gray EE, Murphy JG, Liu Y, Trang I, Tabor GT, Lin L, Hoffman DA. Disruption of GpI mGluR-dependent Cav2.3 translation in a mouse model of Fragile X Syndrome. J Neurosci ;2019 (Jul 26)

Fragile X Syndrome (FXS) is an inherited intellectual impairment that results from the loss of fragile X mental retardation protein (FMRP), an mRNA binding protein that regulates mRNA translation at synapses. The absence of FMRP leads to neuronal and circuit-level hyperexcitability that is thought to arise from the aberrant expression and activity of voltage-gated ion channels, although the identification and characterization of these ion channels has been limited. Here, we show that FMRP binds the mRNA of the R-type voltage-gated calcium channel Cav2.3 in mouse brain synaptoneurosomes and represses Cav2.3 translation under basal conditions. Consequently, in hippocampal neurons from male and female FMRP knock-out (KO) mice, we find enhanced Cav2.3 protein expression by western blotting and abnormally large R-currents in whole-cell voltage-clamp recordings. In agreement with previous studies showing that FMRP couples group I metabotropic glutamate receptor (GpI mGluR) signaling to protein translation, we find that GpI mGluR stimulation results in increased Cav2.3 translation and R-current in hippocampal neurons which is disrupted in FMRP KO mice. Thus, FMRP serves as a key translational regulator of Cav2.3 expression under basal conditions and in response to GpI mGluR stimulation. Loss of regulated Cav2.3 expression could underlie the neuronal hyperactivity and aberrant calcium spiking in FMRP KO mice and contribute to FXS, potentially serving as a novel target for future therapeutic strategies.SIGNIFICANCE STATEMENTPatients with FXS exhibit signs of neuronal and circuit hyperexcitability including anxiety and hyperactive behavior, attention deficit disorder and seizures. FXS is caused by the loss of FMRP, an mRNA binding protein, and the neuronal hyperexcitability observed in the absence of FMRP likely results from its ability to regulate the expression and activity of voltage-gated ion channels. Here we find that FMRP serves as a key translational regulator of the voltage-gated calcium channel Cav2.3 under basal conditions and following activity. Cav2.3 impacts cellular excitability and calcium signaling, and the alterations in channel translation and expression observed in the absence of FMRP could contribute to the neuronal hyperactivity that underlies FXS.

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2. Gwynette MF, McGuire K, Fadus MC, Feder JD, Koth KA, King BH. Overemphasis of the ADOS Evaluation Subverts a Clinician’s Ability to Provide Access to Autism Services. J Am Acad Child Adolesc Psychiatry ;2019 (Jul 26)

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3. Hartley M, Dorstyn D, Due C. Mindfulness for Children and Adults with Autism Spectrum Disorder and Their Caregivers : A Meta-analysis. J Autism Dev Disord ;2019 (Jul 24)

Mindfulness-based therapies are rising in popularity. However, evidence for their effectiveness in reducing psychological distress and enhancing wellbeing for families living with autism spectrum disorder (ASD) is limited. A systematic search identified 10 independent studies, involving a pooled sample of 233 children and adults with ASD and 241 caregivers. Hedges’ g effect sizes with associated 95% confidence intervals, in addition to heterogeneity, were calculated using a random-effects model. Caregivers, children and adults who received mindfulness all reported significant gains in subjective wellbeing immediately post-intervention. Available data indicated intervention effects were maintained at 3-month follow-up. Mindfulness presents a promising intervention strategy in ASD populations, however more controlled research is required to determine its precise efficacy for affected families and subgroups.

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4. Hawks ZW, Constantino JN. Neuropsychiatric "Comorbidity" as Causal Influence in Autism. J Am Acad Child Adolesc Psychiatry ;2019 (Jul 22)

Behavioral comorbidity is the rule rather than the exception in autism spectrum disorder (ASD), and the co-occurrence of autistic traits with subclinical manifestations of other psychiatric syndromes (e.g. anxiety, developmental coordination disorder) extends to the general population, where there is strong evidence for overlap in the respective genetic causes. An ASD "comorbidity" can have several fundamentally-distinct causal origins : it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder). Here, we review evidence for the latter, i.e., the role of non-specific causal influences on the development of ASD itself. The notion that non-specific insults to neural development, either inherited or acquired, might augment the impact of ASD-specific genetic susceptibilities in contributing to its cause has not been appreciated in the literature on comorbidity and has significant implications for both personalized intervention and future research. Prior biomarker studies of ASD have typically not accounted for variation in such traits. The statistical power of future studies, particularly in autism genetics and neuroimaging, can be enhanced by more comprehensive attention to the measurement of comorbid behavioral traits that index causal influences on the disorder, among not only cases but (importantly) controls.

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5. Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH. Medical Issues in Adults with Rett Syndrome - A National Survey. Dev Neurorehabil ;2019 (Jul 25):1-7.

Objectives : To examine main health issues in a population of females with Rett syndrome, with a focus on individuals aged 36 or older. Methods : A national survey including 85 females, divided into a younger (1-20 years), a middle (21-35 years) and an older group (36-66 years). Data include clinical examination, medical records and parental interviews. Prevalences of six main medical issues (scoliosis, ambulation, growth, respiration, gastrointestinal dysmobility and epilepsy) and severity scores in the three groups were compared. Results : Mean severity scores were 11.8, 15.1 and 13.7 (from younger to older), and the difference between the younger and the middle group was significant. No other major significant prevalence differences were observed. Conclusions : Most main medical issues in Rett syndrome continued to be a major concern in adulthood, but health did not seem to decline with increasing age. The results emphasize the need for clinical follow-up throughout adulthood.

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6. Kidd SA, Berry-Kravis E, Choo TH, Chen C, Esler A, Hoffmann A, Andrews HF, Kaufmann WE. Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord ;2019 (Jul 24)

We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included : removal of non-discriminating and/or low face validity items for FXS ; use of receiver operating characteristic (ROC) curves to determine optimal cut points for the original and revised measures ; an exploratory factor analysis to outline subscales better representing ASD in FXS ; and creation of a "triple criteria" diagnosis to better delineate ASD subgroups in FXS. These methods improved the sensitivity and/or specificity of the SCQ and SRS-2, but diagnostic accuracy of ASD remains problematic in FXS.

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7. Kuzminski R, Netto J, Wilson J, Falkmer T, Chamberlain A, Falkmer M. Linking knowledge and attitudes : Determining neurotypical knowledge about and attitudes towards autism. PLoS One ;2019 ;14(7):e0220197.

"Why are neurotypicals so pig-ignorant about autism ?" an autistic person wrote on the Curtin Autism Research Group’s on-line portal as a response to a call for research questions. Co-produced with an autistic researcher, knowledge about and attitudes towards autism were analysed from 1,054 completed surveys, representing the Australian neurotypical adult population. The majority, 81.5% of participants had a high level of knowledge and 81.3% of participants had a strong positive attitude towards autism. Neither age, nor education level had an impact on attitudes. However, attitudes were influenced by knowledge about ’Societal Views and Ideas’ ; ’What it Could be Like to Have Autism’ ; and the demographic variables ’Knowing and having spent time around someone with autism’ ; and gender (women having more positive attitudes than men). Thus, targeted interventions, geared more towards men than women, to increase knowledge about autism could further improve attitudes and increase acceptance of the autistic community.

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8. Lei J, Lecarie E, Jurayj J, Boland S, Sukhodolsky DG, Ventola P, Pelphrey KA, Jou RJ. Altered Neural Connectivity in Females, But Not Males with Autism : Preliminary Evidence for the Female Protective Effect from a Quality-Controlled Diffusion Tensor Imaging Study. Autism Res ;2019 (Jul 26)

Previous studies using diffusion tensor imaging (DTI) to investigate white matter (WM) structural connectivity have suggested widespread, although inconsistent WM alterations in autism spectrum disorder (ASD), such as greater reductions in fractional anisotropy (FA). However, findings may lack generalizability because : (a) most have focused solely on the ASD male brain phenotype, and not sex-differences in WM integrity ; (b) many lack stringent and transparent data quality control such as controlling for head motion in analysis. This study addressed both issues by using Tract-Based Spatial Statistics (TBSS) to separately compare WM differences in 81 ASD (56 male, 25 female ; 4-21 years old) and 39 typically developing (TD ; 23 males, 16 females ; 5-18 years old) children and young people, carefully group-matched on sex, age, cognitive abilities, and head motion. ASD males and females were also matched on autism symptom severity. Two independent-raters completed a multistep scan quality assurance to remove images that were significantly distorted by motion artifacts before analysis. ASD females exhibited significant widespread reductions in FA compared to TD females, suggesting altered WM integrity. In contrast, no significant localized or widespread WM differences were found between ASD and TD males. This study highlights the importance of data quality control in DTI, and outlines important sex-differences in WM alterations in ASD females. Future studies can explore the extent to which neural structural differences might underlie sex-differences in ASD behavioral phenotype, and guide clinical interventions to be tailored toward the unique needs of ASD females and males. Autism Res 2019, 00 : 1-12. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : Previous Diffusion Tensor Imaging (DTI) studies have found atypical brain structural connectivity in males with autism, although findings are inconclusive in females with autism. To investigate potential sex-differences, we studied males and females with and without autism who showed a similar level of head movement during their brain scan. We found that females with autism had widespread atypical neural connectivity than females without autism, although not in males, highlighting sex-differences.

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9. McCaulley ME. Autism spectrum disorder and mercury toxicity : use of genomic and epigenetic methods to solve the etiologic puzzle. Acta Neurobiol Exp (Wars) ;2019 ;79(2):113-125.

Autism spectrum disorder (ASD) is an increasingly prevalent neurodevelopmental condition of unknown etiology. Mercury is a common, highly neurotoxic heavy metal. The similarities of neurologic manifestations of mercury exposure and ASD raise an intriguing hypothetical question : Is ASD, at least partially, a manifestation of mercury toxicity ? The fetus is particularly vulnerable to mercury exposure from the "double jeopardy" combination of the genetics of his mother and his own genetics, as relates to mercury toxicity. In this paper, I review the evidence suggesting relationships between ASD and mercury toxicity. I suggest ways to confirm these relationships with genetic and epigenetic research. I propose a hypothesis associating mercury toxicity with ASD. This may present opportunities for further research in prevention and treatment of ASD.

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10. Micleaa D, Al-Khzouza C, Osan S, Bucerzan S, Cret V, Popp RA, Puiu M, Chirita-Emandi A, Zimbru C, Ghervan C. Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability. J Pediatr Endocrinol Metab ;2019 (Jul 26) ;32(7):667-674.

Background Obesity with developmental disability/intellectual disability (DD/ID) is the most common association in syndromic obesity. Genomic analysis studies have allowed the decipherment of disease aetiology, both in cases of syndromic obesity as well as in cases of isolated or syndromic DD/ID. However, more data are needed to further elucidate the link between the two. The aim of this pangenomic study was to use single nucleotide polymorphism (SNP) array technology to determine the copy number variant (CNV) type and frequency associated with both obesity and DD/ID. Methods Thirty-six patients were recruited from the Clinical Emergency Hospital for Children, in Cluj-Napoca, Romania during the period 2015-2017. The main inclusion criterion was a diagnosis that included both obesity and DD/ID. Genomic analysis via SNP array technology was performed. Results Out of the 36 patients, 12 (33%) presented CNVs with a higher degree of pathogenicity (A group) and 24 (66%) presented benign CNVs (B group). The SNP array results for the A group were as follows : pathogenic CNVs in 8/12 patients (67%) ; variants of unknown significance (VOUS) in 2/12 patients (16%) ; and uniparental disomy (UPD) in 2/12 patients (16%). Conclusions Some of these CNVs have already been observed in patients with both obesity and DD/ID, but the others were noticed only in DD/ID patients and have not been described until now in association with obesity.

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11. Moloney N, Gulati G. Autism spectrum disorder and Irish prisoners. Ir J Psychol Med ;2019 (Jul 26):1-3.

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12. Oreskovic NM, Neumeyer AM, Duggan MP, Kuhlthau KA. Assessment of Walking Routes as a Possible Approach for Promoting Physical Activity in Children with Autism Spectrum Disorder : Brief Report. Dev Neurorehabil ;2019 (Jul 25):1-5.

Children with autism spectrum disorder (ASD) are at increased risk for being overweight/obese and face a variety of challenges with achieving the recommended levels of physical activity. Physical activity level has additionally been linked to motor skills, sleep, cognitive function and academic performance, and mental health in children with ASD. We pilot tested the feasibility and preliminary efficacy of walking routes as a novel approach to increasing physical activity among children with ASD. Physical activity was measured by accelerometry in 21 children ages 6-10 years. Participants received feedback on their physical activity and were counseled on using their surrounding neighborhoods to increase their physical activity. Non-completion (n = 9) reasons included equipment discomfort, family challenges, and diagnosis misattribution. While small changes in physical activity level and sedentary time were observed, neither was statistically significant. Further controlled studies on walking route interventions should continue to explore the potential benefits among this high-risk population.

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13. Ptomey LT, Washburn RA, Lee J, Greene JL, Szabo-Reed AN, Sherman JR, Danon JC, Osborne LN, Little TD, Donnelly JE. Individual and family-based approaches to increase physical activity in adolescents with intellectual and developmental disabilities : Rationale and design for an 18month randomized trial. Contemp Clin Trials ;2019 (Jul 22) ;84:105817.

Adolescents with intellectual and developmental disabilities (IDD) are less physically active and have lower cardiovascular fitness compared with their typically developing peers. This population faces additional barriers to participation in moderate-to-vigorous physical activity (MVPA) such as reliance on parents, lack of peer-support, and lack of inclusive physical activity opportunities. Previous interventions to increase MVPA in adolescents with IDD have met with limited success, at least in part due to requiring parents to transport their adolescent to an exercise facility. We recently developed a remote system to deliver MVPA to groups of adolescents with IDD in their homes via video conferencing on a tablet computer. This approach eliminates the need for transportation and provides social interaction and support from both a health coach and other participants. We will conduct a 18-mo. trial (6 mos. active, 6 mos. maintenance, 6 mos. no-contact follow-up) to compare changes in objectively assessed MVPA in 114 adolescents with IDD randomized to a single level intervention delivered only to the adolescent (AO) or a multi-level intervention delivered to both the adolescent and a parent (A+P). Our primary aim is to compare increases in MVPA (min/d) between the AO and A+P groups from 0 to 6 mos. Secondarily we will compare changes in MVPA, sedentary time, cardiovascular fitness, muscular strength, motor ability, quality of life, and the percentage of adolescents achieving the US recommendation of 60min. MVPA/d across 18 mos. We will also explore the influence of process variables/participant characteristics on changes in MVPA across 18 mos. NCT registration : NCT03684512.

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14. Richard AE, Hodges EK, Carlson MD. Differential Diagnosis of Autism Spectrum Disorder Versus Language Disorder in Children Ages 2 to 5 Years : Contributions of Parent-Reported Development and Behavior. Clin Pediatr (Phila) ;2019 (Jul 26):9922819865794.

Early diagnosis of autism spectrum disorder (ASD) has focused on differentiating children with ASD from neurotypical children. However, many children presenting with concern for ASD are ultimately diagnosed with language disorder (LD). This study aimed to identify differences in parent-rated development and behavior among children ages 2 to 5 years presenting with concern for ASD who were diagnosed with either ASD or LD. Children with ASD were rated as more socially withdrawn and more delayed in social development and self-help skills than those with LD. Parent-rated developmental delays were positively correlated with scores on an autism screening measure and with social withdrawal and pervasive developmental problems among children with ASD. Among those with LD, parent-rated social and self-help development were positively correlated with social withdrawal and attention problems. Thus, parent ratings of social withdrawal and development of social and self-help skills may facilitate differential diagnosis of ASD and LD in children ages 2 to 5 years.

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15. Rollins PR, John S, Jones A, De Froy A. Pathways Early ASD Intervention as a Moderator of Parenting Stress on Parenting Behaviors : A Randomized Control Trial. J Autism Dev Disord ;2019 (Jul 24)

We examined the relationship between initial parenting stress and change in parental responsivity for 56 culturally and socioeconomically diverse families in a 12 week randomized control trial of Pathways Early ASD Intervention. Families were randomized into the Pathways (n = 32) or treatment-as-usual (TAU n = 24) group. Overall, Pathways parents experienced decreased stress, while TAU parents experienced an increase. The relationship between initial parental stress and change in parent responsivity was moderated by group membership. Pathways parents became more responsive but responsivity was not influenced by initial parental stress. In contrast, responsivity was negatively affected by initial parenting stress in the TAU group. Results are discussed in terms of components of a parent-mediated ASD intervention that may reduce parental stress.

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16. Sarmukadam K, Sharpley CF, Bitsika V, McMillan MME, Agnew LL. A review of the use of EEG connectivity to measure the neurological characteristics of the sensory features in young people with autism. Rev Neurosci ;2019 (Jul 26) ;30(5):497-510.

Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting about 1 in 100 children and is currently incurable. ASD represents a challenge to traditional methods of assessment and diagnosis, and it has been suggested that direct measures of brain activity and connectivity between brain regions during demanding tasks represents a potential pathway to building more accurate models of underlying brain function and ASD. One of the key behavioural diagnostic indicators of ASD consists of sensory features (SF), often characterised by over- or under-reactivity to environmental stimuli. SF are associated with behavioural difficulties that impede social and education success in these children as well as anxiety and depression. This review examines the previous literature on the measurement of EEG connectivity and SF observed in individuals with ASD.

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17. Tenenbaum R, Agarwal R, Cooke MS, Agrawal MM, Maddux M, Burke SL. Utilization of Complementary and Alternative Therapies in Youth with Developmental Disabilities. Evid Based Complement Alternat Med ;2019 ;2019:3630509.

Oxidative stress is understood to be involved in the ontology and maintenance of different developmental disabilities. Some complementary and alternative medicine (CAM) therapies have been proposed to modify this relationship by affecting oxidative stress pathways. However, it is unclear which of these CAM therapies are used among children with different developmental disabilities. This study examines the use of these therapies among 10,218 children between the ages of 4 and 17 using the 2012 Child Complementary and Alternative Medicine (CAM) Supplement of the National Health Interview Survey (NHIS) to highlight a potential avenue for intervention and prevention efforts. The results suggest that children with developmental disabilities are more likely to utilize particular CAM therapies that may alter oxidative stress pathways. Future work is needed to assess the potential moderating effect of these CAM therapies and oxidative stress levels among children with different developmental disabilities.

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18. Wolfe K, Pound S, McCammon MN, Chezan LC, Drasgow E. A Systematic Review of Interventions to Promote Varied Social-Communication Behavior in Individuals With Autism Spectrum Disorder. Behav Modif ;2019 (Jul 26):145445519859803.

Individuals with autism spectrum disorder (ASD) may engage in repetitive social-communication behaviors that can limit their skill acquisition, access to reinforcement, and access to less restrictive settings. Basic and applied research indicates that variability, or the extent to which responses are topographically different from one another, is influenced by antecedent and consequence interventions. Our purpose in this study is to systematically review the literature on interventions to increase variable social-communication behaviors in individuals with ASD. We identified 32 studies through a database search and screened them using the What Works Clearinghouse (WWC) Single-Case Design Standards. Eighteen studies containing 55 cases met WWC Design Standards. We coded the descriptive characteristics and strength of evidence based on visual analysis from each of these 18 studies and calculated effect sizes using Tau-U. Our results indicate that most cases (65%) provide strong evidence of a functional relation between the interventions and varied social-communication behaviors, and the median Tau-U was .82. We discuss the implications of our results for practice and for future research on interventions designed to increase variability with this population.

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19. Zeleke WA, Hughes TL, Drozda N. Disparities in Diagnosis and Service Access for Minority Children with ASD in the United States. J Autism Dev Disord ;2019 (Jul 24)

This study examined children with an autism spectrum disorder (ASD) using data from the 2011 Survey of Pathway to Diagnosis and Services national data set (n = 1715). When comparing white and minority families, results indicate there were no differences between the child’s treatment needs based on the number and type of ASD symptoms or insurance coverage. However, minority parents were less likely to contact a doctor or health care professionals about their concerns, waiting years, rather than months as described by white families, to have the child evaluated. Although both white and minority families received similar types of care (e.g., conducting developmental tests, making a referral to a specialist, suggesting that the parent discuss the concern with the school), white families reported they were more formally engaged in the diagnostic process and subsequently visited a larger variety of service providers. White parents were more satisfied with the services that their child received from doctors and other health care providers whereas minority families indicated school services were more responsiveness to their needs. Recommended outreach efforts are suggested and described.

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