1. Alzghoul L, Al-Eitan LN, Aladawi M, Odeh M, Abu Hantash O. {{The Association Between Serum Vitamin D3 Levels and Autism Among Jordanian Boys}}. {J Autism Dev Disord}. 2019.
This study assesses the correlation between vitamin-D deficiency and autism spectrum disorder (ASD) in Jordan. We performed a case-controlled cross-sectional analysis to assess vitamin D levels in 83 children with ASD aged less than 8 years old compared to 106 healthy controls. In addition, the association between vitamin D deficiencies and gastrointestinal (GI) complains and electroencephalogram (EEG) abnormalities commonly found in children with ASD was investigated. Vitamin D levels in ASD patients were significantly lower. Also, Vitamin D levels in ASD patients had significant correlation with GI complains, but no correlation between vitamin D levels and Ca(2+)or EEG abnormalities was detected. These data suggest a possible role for vitamin D deficiency in the pathophysiology of ASD.
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2. Angulo-Jimenez H, DeThorne L. {{Narratives About Autism: An Analysis of YouTube Videos by Individuals Who Self-Identify as Autistic}}. {American journal of speech-language pathology}. 2019: 1-22.
Purpose The goal of this study was to expand the field’s understanding of autism through the analysis of 1st-person perspectives from autistic video webloggers (vloggers). Method This study analyzed the representation of autism in 39 YouTube videos authored by self-identified autistic individuals and published between 2007 and 2015. Consistent with the cross-disciplinary tradition of narrative inquiry, thematic analyses of the video transcripts were conducted. Findings Vloggers were predominantly, but not exclusively, White male adults who spoke mainstream American English and self-identified as experiencing Asperger’s syndrome. Key findings included (a) the predominance of a narrative about autism that incorporated features of both the medical model of disability and the neurodiversity paradigm to varying degrees, (b) a trend toward more medical model features across most content areas, and (c) a relatively high prevalence of neurodiversity paradigm features related specifically to language use and the description of autistic traits. Conclusions Implications include the need for clinicians to (a) familiarize themselves with the varying views of autism held within the autistic community, (b) reflect on the language used to talk about autism and listen to how clients and/or their caregivers talk about it, and (c) consider the exploration of potential positive dimensions of autistic traits.
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3. Bangert KJ, Halverson DM, Finestack LH. {{Evaluation of an Explicit Instructional Approach to Teach Grammatical Forms to Children With Low-Symptom Severity Autism Spectrum Disorder}}. {American journal of speech-language pathology}. 2019: 1-14.
Purpose Weaknesses in the use of grammatical forms may reduce the functional use of language for verbally expressive children with autism spectrum disorder (ASD) and exacerbate difficulties with academic and social skill development. This early efficacy study evaluated a combined explicit-implicit instructional approach to teach novel grammatical forms to children with ASD. Method Seventeen children with ASD between the ages of 4 and 10 years who demonstrated weaknesses in expressive grammatical language completed 2 tasks, each targeting a different novel grammatical form. One form was a gender marking, which required the child to modify the verb if the sentence subject was a boy. The other form was a person marking, which required the child to modify the verb if the sentence subject was the 1st person, « I. » Each form was targeted using implicit-only instruction or combined explicit-implicit instruction. With implicit-only instruction, the examiner presented models and recasts of the targeted form. With explicit-implicit instruction, the examiner presented the rule guiding the form as well as models and recasts. Learning was assessed during each of 4 treatment sessions and after a 1-week delay in 2 contexts. Results For the gender target form, significantly more children reliably produced the target form with explicit-implicit instruction (chi(2) = 4.10, p = .04). For the person target form, the difference in instruction was not statistically significant. Task performance revealed a positive association with receptive language skills, but not age, nonverbal intelligence, or severity of autism-related behaviors for the person form. Conclusion This study provides preliminary evidence that expressively verbal children with low-symptom severity ASD can successfully learn novel grammatical forms with intervention that comprises both explicit and implicit instruction.
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4. Bernardo P, Del Gaudio L, Madia F, Riccio MP, Marino M, Santoro C, Caccavale C, Striano S, Bravaccio C, Coppola A. {{High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome}}. {Neurocase}. 2019: 1-4.
Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . This report suggests that a diagnosis of Inv-Dup (15) can be suspected during more benign atypical condition with a better outcome than usually reported.
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5. Burke E, Carroll R, O’Dwyer M, Walsh JB, McCallion P, McCarron M. {{Quantitative examination of the bone health status of older adults with intellectual and developmental disability in Ireland: a cross-sectional nationwide study}}. {BMJ Open}. 2019; 9(4): e026939.
OBJECTIVES: (1) To investigate the prevalence of osteopenia and osteoporosis among adults with intellectual disabilities (IDs) and (2) to examine alternative optimal bone screening techniques. DESIGN: Observational cross-sectional study. SETTING: Wave 2 (2013-2106) of the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing. PARTICIPANTS: A national representative sample of 604 male and female persons with ID aged 43 years and over. In total, 575 participants completed quantitative ultrasound (QUS) measurements for one or both feet. OUTCOME MEASURES: Participants underwent health assessments consisting of eight objective health measures including the standardised QUS of the calcaneus bone using a GE Lunar Achilles. A preinterview questionnaire and face-to-face interview were also completed. RESULTS: Objectively QUS identified poorer rates of bone health in people with ID overall with 74% indicating evidence of osteopenia (33.2%) or osteoporosis (41%). Females scored lower than males in the QUS t-scores -2.208 (+/-1.77) versus -1.78(+/-1.734). Bone status was stratified by gender (p=0.114), age (p=0.003), level of ID (p<0.0001) and living circumstance (p<0.0001). CONCLUSIONS: This study has shown the prevalence of poor bone health in people with ID is substantial implying an increased risk of fracture due to reduced skeletal integrity. QUS screening has been shown to be useful when combined with clinical risk factors. Lien vers le texte intégral (Open Access ou abonnement)
6. de Diego-Otero Y, Salgado-Cacho JM. {{Early detection in autism spectrum disorders}}. {Medicina clinica}. 2019; 152(8): 307-9.
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7. Feng X, Hao X, Xin R, Gao X, Liu M, Li F, Wang Y, Shi R, Zhao S, Zhou F. {{Detecting Methylomic Biomarkers of Pediatric Autism in the Peripheral Blood Leukocytes}}. {Interdisciplinary sciences, computational life sciences}. 2019.
Autism was a spectrum of multiple complex diseases that required an interdisciplinary group of experts to make a diagnostic decision. Both genetic and environmental factors play essential roles in causing the onset of Autism. Therefore, this study hypothesized that methylomic biomarkers may facilitate the accurate Autism detection. A comprehensive series of biomarker detection algorithms were utilized to find the best methylomic biomarkers for the Autism detection using the methylomic data of the peripheral blood samples. The best model achieved 99.70% in accuracy with 678 methylomic biomarkers and a tenfold cross validation strategy. Some of the methylomic biomarkers were experimentally confirmed to be associated with the onset or development of Autism.
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8. Hartley SL, Hickey EJ, DaWalt L, Rodriguez G. {{Broader autism phenotype and couple interactions in parents of children with autism}}. {Autism}. 2019: 1362361319841312.
The broader autism phenotype refers to sub-clinical autism spectrum disorder characteristics involving socially and emotionally aloof and rigid personality traits and social communication difficulties. Relatives of individuals with autism spectrum disorder, including parents, evidence an increased rate of broader autism phenotype. The goal of this study was to evaluate the association between actor (one’s own) and partner (their partner’s) broader autism phenotype and the self-reported, observed, and physiological (i.e. electrodermal reactivity) markers of the quality of videotaped couple problem-solving interactions in 158 couples, who had a child with autism spectrum disorder (aged 5-12 years). The mean age of mothers was 39.79 (standard deviation = 5.06) years and the mean age of fathers was 41.77 (standard deviation = 6.02) years for fathers, and 36.6% of parents did not have a college degree. Actor-partner interdependence models, using structural equation modeling in analysis of moment structures, were conducted. Results indicated that parent broader autism phenotype was positively related to adverse couple problem-solving interactions across all measurement methods (observed codes, self-reported affect, and electrodermal reactivity). These effects were independent of child-related challenges. The effect of parent broader autism phenotype occurred through both actor and partner pathways and was strongest for father broader autism phenotype.
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9. Legg H, Tickle A. {{UK parents’ experiences of their child receiving a diagnosis of autism spectrum disorder: A systematic review of the qualitative evidence}}. {Autism}. 2019: 1362361319841488.
The purpose of this article is to systematically identify, appraise and synthesise qualitative research concerning UK parents’ experiences of their child receiving a diagnosis of autism spectrum disorder. In total, 11 articles were located through a systematic search of five databases, reference lists, citations and grey literature. These were critically appraised and their results synthesised using meta-ethnography. The quality scores given to included studies were variable, so suggestions are made to improve reporting of future research. Three third-order constructs were developed: (1) emotional needs, (2) informational needs and (3) relational needs. Each relates to parents’ needs as they navigate the process of making sense of their child by seeking and adjusting to a diagnosis of autism spectrum disorder. Parents’ experiences of assessment and diagnosis of their children varied, but these needs were evident across the course of the process. Fathers seemed to find it more difficult than mothers to reconcile having a child with autism spectrum disorder, which may have been grounded in a sense of exclusion from the assessment process. The findings should be considered by professionals working with children, particularly those directly involved in diagnosing autism spectrum disorder. Clinical implications emphasise the need for consideration of parents’ emotional needs, provision of information to aid understanding, and strong relationships with professionals. Future clinical research, which should be informed by quality standards, might develop and evaluate standards of assessment and diagnosis, including post-diagnostic support.
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10. Nguyen RL, Medvedeva YV, Ayyagari TE, Schmunk G, Gargus JJ. {{Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways}}. {Biochimica et biophysica acta Molecular cell research}. 2018; 1865(11 Pt B): 1718-32.
Autism spectrum disorder (ASD) is a group of complex, neurological disorders that affect early cognitive, social, and verbal development. Our understanding of ASD has vastly improved with advances in genomic sequencing technology and genetic models that have identified >800 loci with variants that increase susceptibility to ASD. Although these findings have confirmed its high heritability, the underlying mechanisms by which these genes produce the ASD phenotypes have not been defined. Current efforts have begun to « functionalize » many of these variants and envisage how these susceptibility factors converge at key biochemical and biophysical pathways. In this review, we discuss recent work on intracellular calcium signaling in ASD, including our own work, which begins to suggest it as a compelling candidate mechanism in the pathophysiology of autism and a potential therapeutic target. We consider how known variants in the calcium signaling genomic architecture of ASD may exert their deleterious effects along pathways particularly involving organelle dysfunction including the endoplasmic reticulum (ER), a major calcium store, and the mitochondria, a major calcium ion buffer, and theorize how many of these pathways intersect.
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11. Paterson SJ, Wolff JJ, Elison JT, Winder-Patel B, Zwaigenbaum L, Estes A, Pandey J, Schultz RT, Botteron K, Dager SR, Hazlett HC, Piven J. {{The Importance of Temperament for Understanding Early Manifestations of Autism Spectrum Disorder in High-Risk Infants}}. {J Autism Dev Disord}. 2019.
The present study investigated the relationship between infant temperament characteristics and autism spectrum disorder (ASD) risk status. Temperament was examined at 6, 12, and 24 months in 282 infants at high familial risk for ASD and 114 low-risk controls using the Infant Behavior Questionnaire-Revised and Early Childhood Behavior Questionnaire. Infants were divided into three groups at 24 months: High-Risk Positive-classified as ASD (HR Pos), High-Risk Negative (HR Neg), and Low-Risk Negative (LR Neg). At 6 and 12 months HR Pos infants exhibited lower Surgency and Regulatory Capacity than LR Neg infants. By 12 months they also demonstrated increased Negative Affect. Group differences remained, when early signs of ASD were controlled for, suggesting that temperament differences could be useful targets for understanding the development of ASD.
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12. Rescorla LA, Given C, Glynn S, Ivanova MY, Achenbach TM. {{International comparisons of autism spectrum disorder behaviors in preschoolers rated by parents and caregivers/teachers}}. {Autism}. 2019: 1362361319839151.
This study tested international similarities and differences in scores on a scale comprising 12 items identified by international mental health experts as being very consistent with the Diagnostic and Statistical Manual of Mental Disorders (5th ed.) category of autism spectrum disorder. Participants were 19,850 preschoolers in 24 societies rated by parents on the Child Behavior Checklist for Ages 1(1/2)-5; 10,521 preschoolers from 15 societies rated by caregivers/teachers on the Caregiver-Teacher Report Form, and 7380 children from 13 societies rated by both types of informant. Rank ordering of the items with respect to base rates and mean ratings was more similar across societies for parent ratings than caregiver/teacher ratings, especially with respect to the items tapping restricted interests and repetitive behaviors. Items 80. Strange behavior; 63. Repeatedly rocks head or body; 67. Seems unresponsive to affection; and 98. Withdrawn, doesn’t get involved with others had low base rates in these population samples across societies and types of informants, suggesting that they may be particularly discriminating for identifying autism spectrum disorder in young children. Cross-informant agreement was stronger for the items tapping social communication and interaction problems than restricted interests and repetitive behaviors. The findings support the feasibility of international use of the scale for autism spectrum disorder screening in population samples.
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13. Semino S, Zanobini M, Usai MC. {{Visual memory profile in children with high functioning autism}}. {Appl Neuropsychol Child}. 2019: 1-11.
Visual memory in children with high-functioning autism (HFA) is an area of debate. According to the few studies that have examined visual memory in children with autism, the memory profile appears to vary according to the memory process and type of stimuli, and contrasting results may be found. This study aims to analyze the visual memory profile of children with HFA. Fifteen children with HFA (mean age 9.6) and 15 typically developing children (TD; mean age 9.2) matched by chronological age and Leiter-R Brief IQ score took part in the study. Associative and recognition memory as well as visuospatial working memory were assessed. Impairments in face recognition and forward memory were found, whereas associative memory and shape recognition were preserved. The memory profile in children with Autism Spectrum Disorder (ASD) showed relatively stronger abilities in associative memory than in the other visual memory domains. The results support the hypothesis that the level of stimulus processing may influence memory performance by having a large impact on tasks and stimuli that require access to a semantic or global level of processing. In contrast to the TD population, children with ASD may have difficulty extracting underlying regularities from experiences and generalizing that information. Highlights Children with high-functioning autism (HFA) show preserved ability in associative memory and shape recognition. Face recognition appears to be a specific deficit in children with HFA. Associative memory appeared to be the strongest ability in the memory profile of children with autism spectrum disorder (ASD) and typically developing (TD) children.
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14. Taylor WD, Cobigo V, Ouellette-Kuntz H. {{A family systems perspective on supporting self-determination in young adults with intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil}. 2019.
BACKGROUND: This study explored the way families support self-determination in young adults with intellectual and developmental disabilities (IDD) during life transitions. METHOD: Qualitative case studies were conducted with two Canadian families who participated in semi-structured interviews and ethnographic observations every quarter for one year. Analyses were informed by family systems theory and self-determination theory. FINDINGS: Families considered the needs and preferences of the young adults with IDD, suggesting individualized approaches for balancing independence and protection. Families set short-term and long-term goals for increased independence, scaffolded the learning of new skills and collaborated on important choices. Collaboration occurred to the extent that all family members perceived agency in planning and implementing transitions. CONCLUSIONS: Families supported the young adults with IDD in their psychological needs for competence, relatedness and autonomy, which allowed them to experience self-determination. Findings have implications for supporting self-determination and transition planning in the family system.
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15. Waldman-Levi A, Golisz K, Swierat RP, Toglia J. {{Scoping review: Interventions that promote functional performance for adolescents and adults with Intellectual and Developmental Disabilities}}. {Australian occupational therapy journal}. 2019.
INTRODUCTION: Individuals with Intellectual and Developmental Disabilities (IDD) experience broad impairments that affect their functional performance and consequently result in the need for supervision and assistance on a daily basis. The literature contains effectiveness studies of functional interventions provided to adolescents and adults with IDD. However, existing differences in participant characteristics, study design, and type of functional intervention limit the ability to derive clinical evidence-based decisions. This scoping review sought to explore the breadth and depth of evidence related to interventions designed to promote everyday performance of adolescents and adults with IDD. METHODS: We conducted an electronic and hand search that yielded 1568 papers, after an extensive selection process reduced to a sample of 24 studies. RESULTS: A three-step extraction process of the 24 studies revealed 16 studies used functional training and technology-based approaches to teach individuals with IDD functional skills. Seven studies used functional training without a technology component, and two studies used functional training while comparing technology-based to non-technology based approaches. Overall, it appeared that functional training with the use of technology, especially Video Modelling (VM) and Prompting, were the most frequently and effectively used interventions to promote everyday performance. Gaps in research include limited studies on middle and older aged adults with moderate to severe IDD, minimal use of self-chosen goals or activities and use of technology as a continuous support. CONCLUSION: Our findings show a lack of studies for individuals age 30 and above with severe IDD. Additionally, this scoping review highlight that everyday functional performance of adolescents and adults with IDD can be enhanced with the usage of technology based functional interventions utilising VM and prompting methods.
