Pubmed du 16/04/19

mardi 16 avril 2019

1. Achenie LEK, Scarpa A, Factor RS, Wang T, Robins DL, McCrickard DS. A Machine Learning Strategy for Autism Screening in Toddlers. J Dev Behav Pediatr. 2019.

OBJECTIVE : Autism spectrum disorder (ASD) screening can improve prognosis via early diagnosis and intervention, but lack of time and training can deter pediatric screening. The Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) is a widely used screener but requires follow-up questions and error-prone human scoring and interpretation. We consider an automated machine learning (ML) method for overcoming barriers to ASD screening, specifically using the feedforward neural network (fNN). METHODS : The fNN technique was applied using archival M-CHAT-R data of 14,995 toddlers (age 16-30 months, 46.51% male). The 20 M-CHAT-R items were inputs, and ASD diagnosis after follow-up and diagnostic evaluation (i.e., ASD or not ASD) was the output. The sample was divided into subgroups by race (i.e., white and black), sex (i.e., boys and girls), and maternal education (i.e., below and above 15 years of education completed) to examine subgroup differences. Each subgroup was evaluated for best-performing fNN models. RESULTS : For the total sample, best results yielded 99.72% correct classification using 18 items. Best results yielded 99.92% correct classification using 14 items for white toddlers and 99.79% correct classification using 18 items for black toddlers. In boys, best results yielded 99.64% correct classification using 18 items, whereas best results yielded 99.95% correct classification using 18 items in girls. For the case when maternal education is 15 years or less (i.e., associate degree and below), best results were 99.75% correct classification when using 16 items. Results were essentially the same when maternal education was 16 years or more (i.e., above associate degree) ; that is, 99.70% correct classification was obtained using 16 items. CONCLUSION : The ML method was comparable to the M-CHAT-R with follow-up items in accuracy of ASD diagnosis while using fewer items. Therefore, ML may be a beneficial tool in implementing automatic, efficient scoring that negates the need for labor-intensive follow-up and circumvents human error, providing an advantage over previous screening methods.

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2. Brady AM, Burke MM, Landon T, Oertle K. Siblings of adults with intellectual and developmental disabilities : Their knowledge and perspectives on guardianship and its alternatives. J Appl Res Intellect Disabil. 2019.

BACKGROUND : Siblings of adults with intellectual and developmental disabilities (IDD) often support their brothers and sisters through caregiving and guardianship. METHODS : In this qualitative study, the knowledge and views of 10 adult siblings were explored. RESULTS & CONCLUSIONS : The tripartite impact of limited knowledge of guardianship and alternatives, the viewpoint of full guardianship as necessary and the desired/anticipated roles of siblings combined to create the Sibling Reciprocal Effect (SRE). The present authors define SRE as the phenomenon of siblings to recognize the applicability of complementary forms of guardianship for other adults with IDD, but fail to see the advantage of available decision-making alternatives with their own brothers/sisters. Instead, siblings defer to full guardianship as the preferred mechanism for decision making. Implications for practitioners include informing families of the full range of options for supporting persons with IDD in decision making. Future research suggestions include examining the elements of the SRE and siblings’ knowledge regarding guardianship and the alternatives.

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3. Damianidou D, Foggett J, Wehmeyer ML, Arthur-Kelly M. Features of employment-related technology for people with intellectual and developmental disabilities : A thematic analysis. J Appl Res Intellect Disabil. 2019.

BACKGROUND : The aim of this study was to identify, extract, summarize and list the features of applied cognitive technology used to support employment-related outcomes for people with intellectual and developmental disabilities. METHOD : Thematic analysis was employed on a published research base of 41 studies obtained through a larger scoping review of the literature on the same topic. RESULTS : The thematic analysis identified 109 technology features categorized into 14 main categories of features, which were grouped into three over-arching categories, Output, Input and General Features. The majority of the studies comprised "Output" features with "Audio" features being the most frequent category. Studies using more sophisticated technology incorporated a wider range of features and a larger number of references. CONCLUSIONS : Further investigation regarding the association of specific technology features with the enhancement of various cognitive functions will assist the decision making and technology selection process.

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4. Danker J, Strnadova I, Cumming TM. Picture my well-being : Listening to the voices of students with autism spectrum disorder. Res Dev Disabil. 2019 ; 89 : 130-40.

BACKGROUND : Student well-being, though widely researched, continues to be a poorly defined concept. Few student well-being studies focus on students with autism spectrum disorder (ASD), who may have a poorer sense of well-being compared to typically developing students. AIMS : The current study aims to explore the conceptualisation, barriers, and ways to enhance the well-being of students with ASD from their perspectives. METHODS AND PROCEDURES : Photovoice, a participatory research method was used to elicit the views of 16 high school students with ASD to explore the concept of well-being. Data analysis was conducted using a grounded theory approach. OUTCOMES AND RESULTS : Students conceptualised well-being as multidimensional, identified sensory barriers, social barriers, and barriers that were associated with learning, and several external and internal assets that could support their well-being. CONCLUSIONS AND IMPLICATIONS : To promote well-being, barriers should be mitigated, while external and internal assets developed. Researchers should also consider the use of Photovoice to enable students’ meaningful participation in research studies.

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5. DeStefano F, Shimabukuro TT. The MMR Vaccine and Autism. Annual review of virology. 2019.

Autism is a developmental disability that can cause significant social, communication, and behavioral challenges. A report published in 1998, but subsequently retracted by the journal, suggested that measles, mumps, and rubella (MMR) vaccine causes autism. However, autism is a neurodevelopmental condition that has a strong genetic component with genesis before one year of age, when MMR vaccine is typically administered. Several epidemiologic studies have not found an association between MMR vaccination and autism, including a study that found that MMR vaccine was not associated with an increased risk of autism even among high-risk children whose older siblings had autism. Despite strong evidence of its safety, some parents are still hesitant to accept MMR vaccination of their children. Decreasing acceptance of MMR vaccination has led to outbreaks or resurgence of measles. Health-care providers have a vital role in maintaining confidence in vaccination and preventing suffering, disability, and death from measles and other vaccine-preventable diseases. Expected final online publication date for the Annual Review of Virology Volume 6 is September 30, 2019. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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6. DuBois D, Renwick R, Chowdhury M, Eisen S, Cameron D. Engagement in community life : perspectives of youths with intellectual and developmental disabilities on families’ roles. Disabil Rehabil. 2019 : 1-12.

PURPOSE : The main objectives of this study were to learn from youths with intellectual and developmental disabilities about the ways their families were involved in their engagement in community life and to capture how they felt about such involvement. METHOD : The current study is a secondary analysis of a larger study, the Voices of Youths Research Project, framed by inclusive research methods. Thirty-eight semi-structured interviews that discussed perspectives on friendship, social inclusion, and quality of life from 20 participants (ages 13 to 24 years) were included in this paper. All interviews were video-recorded and coded using NVivo 10. Thematic analysis of the coded segments was guided by a constructivist grounded theory approach. RESULTS : Three major themes emerged from the experiences of youths with intellectual and developmental disabilities on family involvement in their social and community engagement : (1) complex of supports and influences, (2) community engagement with and through family, and (3) points of tension. CONCLUSIONS : These thematic findings offer insights into the lived experiences of youths with intellectual and developmental disabilities about engagement in community life. These findings provide an understanding, outside of conventional schemas, of transition into young adulthood for these youths. IMPLICATIONS FOR REHABILITATION Rehabilitation professionals often work with youths with intellectual and developmental disabilities who face barriers to reaching transition goals identified either by themselves or others. Family members’ views that may focus on goals of maximizing functional independence and/or decreasing caregiver demands can often overshadow the goals or views of youths with intellectual and developmental disabilities themselves. Rehabilitation professionals should find ways to explore with youth their family’s roles in engagement and belonging in community life so that they can link youths to appropriate community resources and plan optimal interventions/programs. Rehabilitation professionals need to be aware of and respond to points of tension that can emerge between youths with intellectual and developmental disabilities and their family during transition.

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7. Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019 ; 92(16) : e1912-e25.

OBJECTIVE : To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating neurodevelopmental condition for which no pharmacotherapies directed at core features are available. METHODS : This was a phase 2, multicenter, double-blind, placebo-controlled, parallel-group study, in which safety/tolerability, pharmacokinetics, and clinical response to trofinetide were characterized in 82 children/adolescents with RTT, aged 5 to 15 years. Sixty-two participants were randomized 1:1:1:1 to receive placebo twice a day (bid) for 14 days, followed by placebo, 50, 100, or 200 mg/kg bid of trofinetide for 42 days. Following blinded safety data review, 20 additional participants were randomized 1:1 to the 200 mg/kg or placebo bid groups. Safety assessments included adverse events, clinical laboratory tests, physical examinations, and concomitant medications. Clinician- and caregiver-based efficacy measurements assessed clinically relevant, phenotypic dimensions of impairment of RTT. RESULTS : All dose levels were well tolerated and generally safe. Trofinetide at 200 mg/kg bid showed statistically significant and clinically relevant improvements relative to placebo on the Rett Syndrome Behaviour Questionnaire, RTT-Clinician Domain Specific Concerns-Visual Analog Scale, and Clinical Global Impression Scale-Improvement. Exploratory analyses suggested that observed changes correlated with trofinetide exposure. CONCLUSION : These results, together with those from a previous adolescent/adult trial, indicate trofinetide’s potential for treating core RTT symptoms and support further trials. CLASSIFICATION OF EVIDENCE : This study provides Class I evidence that for children/adolescents with RTT, trofinetide was safe, well-tolerated, and demonstrated improvement over placebo at 200 mg/kg bid in functionally important dimensions of RTT.

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8. Hessl D, Schweitzer JB, Nguyen DV, McLennan YA, Johnston C, Shickman R, Chen Y. Cognitive training for children and adolescents with fragile X syndrome : a randomized controlled trial of Cogmed. J Neurodev Disord. 2019 ; 11(1) : 4.

BACKGROUND : Individuals with fragile X syndrome (FXS) typically demonstrate profound executive function (EF) deficits that interfere with learning, socialization, and emotion regulation. We completed the first large, non-pharmacological controlled trial for FXS, designed to evaluate the efficacy of Cogmed, a computer/tablet-based working memory (WM) training program. METHODS : The study was a randomized, blinded, parallel two-arm controlled trial in 100 children and adolescents with FXS (63 male, 37 female ; 15.28 +/- 3.36 yrs.). Participants were randomized equally to adaptive (difficulty level adjusted to performance) or non-adaptive (control) Cogmed training. Participants were assessed at home using objective measures of WM (primary outcome) and EF at baseline, following 20-25 caregiver-supported sessions over 5-6 weeks, and at follow-up 3 months after cessation of training. Parents and teachers provided ratings of WM, attention, and EF. RESULTS : The WM composite and selective domains of EF (distractibility, cognitive flexibility), as well as parent- and teacher-reported attention and EF, significantly improved across the full study sample, with many changes maintained at follow-up. However, comparisons of improvement between adaptive and non-adaptive control conditions did not differ, showing that progressively challenging the WM system by expanding span length did not provide added benefit overall. CONCLUSIONS : Further experimental comparisons are needed before Cogmed working memory training can be considered empirically validated for children with FXS, forming the basis of treatment recommendation. However, given that prior studies show no significant changes on these measures in FXS without treatment, that improvements were maintained for 3 months, and that blinded teachers reported improvements in the classroom, the modest benefits seen in both adaptive and non-adaptive groups overall are unlikely to be attributable to placebo or practice effects alone. Future analyses examining inter-individual differences (e.g., baseline capacity, training efficiency, co-morbidity, training environment, characteristics of training aide) may help to link this intervention to outcomes and potential transfer effects. TRIAL REGISTRATION : US National Institutes of Health (ClinicalTrials.gov), NCT02747394 .

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9. Johansson AEE, Dorman JS, Chasens ER, Feeley CA, Devlin B. Variations in Genes Related to Sleep Patterns in Children With Autism Spectrum Disorder. Biological research for nursing. 2019 ; 21(3) : 335-42.

BACKGROUND : Sleep disturbance is a frequent comorbidity in children with autism spectrum disorder (ASD), affecting an estimated 40-80% of cases. Previous reports have shown relationships between several circadian rhythm-related genes and sleep problems in ASD. The purpose of the present study was to relate variation in and around melatonin synthesis and suprachiasmatic nucleus genes to sleep problems in a large sample of children with ASD. METHOD : This secondary analysis used existing genotypic and phenotypic data for 2,065 children, aged 4-18 years, from the Simons Simplex Collection (SSC). Sleep problems were measured with the SSC Sleep Interview. Expression quantitative trait loci and single nucleotide polymorphisms in 25 circadian genes were chosen primarily for their impact on expression levels of target genes in the brain. Associations between variants and composite sleep problems, nighttime problems, daytime problems, and sleep duration problems were calculated using logistic regression analysis. Age, sex, nonverbal IQ, ASD severity, gastrointestinal distress, seizures, and ancestry were included as covariates. Transmission disequilibrium tests were performed to test for overtransmission of alleles in the same variants. RESULTS : No significant associations or transmission disequilibrium were found between gene variants and sleep problems in this sample of children with ASD. CONCLUSION : Variation in expression of investigated genes in the melatonin synthesis and suprachiasmatic nucleus pathways did not have notable impacts on sleep problems in this large sample of children with ASD. Future research could explore translational and posttranslational effects of these genes or the effects of genes in other sleep-homeostasis pathways on sleep patterns.

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10. Mire SS, McQuillin S, Racine M, Goin-Kochel RP. Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder. Autism Res. 2019.

Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike’s Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of : (a) mostly private and school speech and occupational therapies ; (b) nearly all treatment types ; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use ; (d) private therapies almost exclusively ; (e) primarily psychotropic medications ; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families’ lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children’s developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptive-functioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used : (a) mostly used private and school speech and occupational therapies ; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments) ; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use ; (d) private therapies almost exclusively ; (e) primarily psychotropic medications ; and (f) mostly school-based therapies.

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11. Naguy A, Abdullah A. Autism : The Second Triad of Impairment Demystified. J Nerv Ment Dis. 2019 ; 207(5) : 417.

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12. Nt P, Ds M, Mm N, In M, Ti V. Investigation of Circulating Serum MicroRNA-328-3p and MicroRNA-3135a Expression as Promising Novel Biomarkers for Autism Spectrum Disorder. Balkan journal of medical genetics : BJMG. 2018 ; 21(2) : 5-12.

Circulating microRNAs (miRNAs) are emerging as promising diagnostic biomarkers for autism spectrum disorder (ASD), but their usefulness for detecting ASD remains unclear. Nowadays, development of promising biomarkers for ASD remains a challenge. Recently, dysregulation of the miRNAs expression in postmortem brain tissue, serum and peripheral blood, have been associated with ASD. Circulating miRNAs are known to be secreted by a number of different cells and can interpose delivery of information into receiver cells, thus affecting their functions. Based on this fact, it is supposed that serum miRNAs could be a novel class of biomarkers for prognosis or diagnosis of pathological disorders including ASD. In the current research, we investigated whether the expression patterns of circulating miRNAs showed dysregulation in subjects diagnosed with ASD. Expression levels of serum miR-328-3p and miR-3135a were analyzed by quantitative reverse transcription polymerase chain reaction (qRT-PCR) method of subjects diagnosed with ASD in comparison with healthy control subjects. Our data showed that miR-328-3p and miR-3135a were substantially down-regulated in ASD patients than in those of healthy control subjects. Moreover, target gene analysis of altered serum miRNAs displayed that these molecules targeted 162 genes denoted as unique validated targets in the miRWalk database, 71 of which appear to participate in biological pathways involved in synaptic pathways and neurodegenerative condition such as Alzheimer, Huntington and Parkinson diseases. Finally, the results strongly suggested that dys-regulated serum miRNAs might be involved in molecular pathways associated with ASD and miR-328-3p and miR-3135a have the potential to be promising novel biomarkers for ASD.

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13. Quinn BP, Stark MD, Hunter AK, Evans A, Hennessey KA. Purpose in adolescents diagnosed with an autism spectrum disorder. Journal of adolescence. 2019 ; 73 : 53-62.

INTRODUCTION : Drawing from positive youth development theory, the research team examined purpose in life among adolescents diagnosed with an autism spectrum disorder (ASD). METHODS : Members of the research team conducted paired interviews about purpose in life with adolescents diagnosed with an ASD and one of each adolescent’s parents. Data collection took place in the south-central region of the US. The eight adolescent participants were in middle school, high school, and early college. The research team open-coded interview transcripts and condensed these codes into meta-codes to aid in determining the form of purpose for each participant. RESULTS : Similar to what has been found in studies of neurotypical youth, participants distributed diversely across the forms of purpose, with all but one participant demonstrating some aspect of purpose. CONCLUSIONS : The authors recommend practitioners consider the variety of supports they could provide to adolescents diagnosed with an ASD and consider encouraging these youth when their creative interests are sparked. Additionally, the research team invites the scholarly community to further investigate specific contextual supports and to develop ways of measuring purpose that do not rely on advanced language and social skills.

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14. Schlosser RW, Brock KL, Koul R, Shane H, Flynn S. Does Animation Facilitate Understanding of Graphic Symbols Representing Verbs in Children With Autism Spectrum Disorder ?. Journal of speech, language, and hearing research : JSLHR. 2019 ; 62(4) : 965-78.

Purpose The effects of animation on identification of graphic symbols for verbs were studied using the Autism Language Program Graphic Symbols Set in children diagnosed with mild-to-severe autism spectrum disorder between the ages of 3 and 7 years. Method The participants were randomly assigned to an animated symbol condition or a static symbol condition. Static symbols were spliced from the animated symbols to ensure that the symbols differed only in terms of the absence or presence of movement. The participants were asked to identify a target symbol among foils given the spoken label. Results There were no significant differences between the groups with respect to chronological age, autism severity, and receptive target verb knowledge. An independent t test revealed that animated symbols were more readily identified than static symbols. Conclusions Animation enhances the identification of verbs in children with autism spectrum disorder. Clinicians are encouraged to take advantage of animation when introducing graphic symbols representing verbs. Limitations and implications for future research are discussed.

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