1. Andrews DS, Marquand A, Ecker C, McAlonan G. {{Using Pattern Classification to Identify Brain Imaging Markers in Autism Spectrum Disorder}}. {Current topics in behavioral neurosciences}. 2018.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction and communication, as well as repetitive and restrictive behaviours. The etiological and phenotypic complexity of ASD has so far hindered the development of clinically useful biomarkers for the condition. Neuroimaging studies have been valuable in establishing a biological basis for ASD. Increasingly, neuroimaging has been combined with ‘machine learning’-based pattern classification methods to make individual diagnostic predictions. Moving forward, the hope is that these techniques may not only facilitate the diagnostic process but may also aid in fractionating the ASD phenotype into more biologically homogeneous sub-groups, with defined pathophysiology, predictable outcomes and/or responses to targeted treatments and/or interventions. This review chapter will first introduce ‘machine learning’ and pattern recognition methods in general, with a focus on their application to diagnostic classification. It will highlight why such approaches to biomarker discovery may have advantages over more conventional analytical methods. Magnetic resonance imaging (MRI) findings of atypical brain structure, function and connectivity in ASD will be briefly reviewed before we describe how pattern recognition has been applied to generate predictive models for ASD. Last, we will discuss some limitations and pitfalls of pattern recognition analyses in ASD and consider how the field can advance beyond the prediction of binary outcomes.
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2. Conrad JA. {{On intellectual and developmental disabilities in the United States: A historical perspective}}. {Journal of intellectual disabilities : JOID}. 2018: 1744629518767001.
The history of intellectual and developmental disabilities (IDD) in the United States is, in many ways, a triumphant story reflecting an increasingly progressive attitude acknowledging the equality of all persons. The law now recognizes people with IDD as citizens, possessing an equal right to education, health care, and employment-each of which represents milestone victories. However, this progression was not a linear development but rather a product of periods of growth and decline, backsliding, and hard-won battles across political, cultural, and legal domains. This article explores the vacillating historical trajectory for people with IDD in the United States from the colonial period to the present. Particular attention is paid to the conceptual understanding of disability itself across time periods as that which informs particular developments in treatment, law, and social status. The capabilities approach, as outlined by Martha Nussbaum, is then brought to bear as a heuristic framework, consonant with current developments in disability studies, and which may guide future social and legislative action.
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3. Davis TN, Rispoli M. {{Introduction to the Special Issue: Interventions to Reduce Challenging Behavior Among Individuals With Autism Spectrum Disorder}}. {Behav Modif}. 2018; 42(3): 307-13.
The prevalence of autism spectrum disorder (ASD) is on the rise. In addition to the social communication skill deficits and restrictive repetitive behaviors and interests, many individuals with ASD engage in challenging behavior. Challenging behavior is associated with a multitude of negative outcomes. Challenging behavior may cause harm to the individual with ASD as well as limit opportunities for educational, vocational, and social participation and development. In addition, caregivers experience high stress and low quality of mental health. As a result, challenging behavior warrants intervention that is specifically tailored to the unique characteristics of individuals with ASD. The purpose of this Special Issue is to showcase recent research in the treatment of challenging behavior for individuals with ASD. This two-part Special Issue contains 12 studies that range from systematic and quality reviews of the intervention literature, to innovative treatment approaches, to studies that develop and evaluate treatments for restrictive and repetitive behaviors and interests.
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4. Green CC, Dissanayake C, Loesch DZ, Bui M, Barbaro J. {{Skeletal Growth Dysregulation in Australian Male Infants and Toddlers With Autism Spectrum Disorder}}. {Autism Res}. 2018.
Recent findings suggest that children with Autism Spectrum Disorder (ASD) are larger in size for head circumference (HC), height, and weight compared to typically developing (TD) children; however, little is known about their rate of growth, especially in height and weight. The current study aimed to: (a) confirm and extend upon previous findings of early generalized overgrowth in ASD; and (b) determine if there were any differences in the rate of growth between infants and toddlers with ASD compared to their TD peers. Measurements of HC, height, and weight were available for 135 boys with ASD and 74 TD boys, from birth through 3 years of age. Size and growth rate in HC, height, and weight were analyzed using a linear mixed-effects model. Infants with ASD were significantly smaller in size at birth for HC, body length, and weight compared to TD infants (all P < 0.05); however, they grew at a significantly faster rate in HC and height in comparison to the TD children (P < 0.001); there was no significant difference between the groups in growth rate for weight (P > 0.05). The results confirmed that male infants and toddlers with ASD exhibit skeletal growth dysregulation early in life. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Recent findings suggest that infants with Autism Spectrum Disorder (ASD) are smaller in size at birth compared to typically developing infants but grow larger than their peers during the first year. Little is known about their rate of growth, especially for height and weight. Our findings confirmed that infants with ASD are smaller in size at birth for head circumference (HC), height, and weight, but grow at a faster rate in HC and height than their peers from birth to 3 years.
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5. Lubala TK, Lumaka A, Kanteng G, Mutesa L, Mukuku O, Wembonyama S, Hagerman R, Luboya ON, Lukusa Tshilobo P. {{Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist}}. {Molecular genetics & genomic medicine}. 2018.
BACKGROUND: Clinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping health professionals to improve their referrals for Fragile X testing. METHODS: All published studies consisting of cytogenetic and/or molecular screening for fragile X syndrome among patients with intellectual disability, were eligible for the meta-analysis. All patients enrolled in clinical checklists trials of Fragile X syndrome were eligible for this review, with no exclusion based on ethnicity or age. Odds ratio values, with 95% confidence intervals as well as Cronbach coefficient alpha, was reported to assess the frequency of clinical characteristics in subjects with intellectual disability with and without the fragile X mutation to determine the most discriminating. RESULTS: The following features were strongly associated with Fragile X syndrome: skin soft and velvety on the palms with redundancy of skin on the dorsum of hand [OR: 16.85 (95% CI 10.4-27.3; alpha:0.97)], large testes [OR: 7.14 (95% CI 5.53-9.22; alpha: 0.80)], large and prominent ears [OR: 18.62 (95% CI 14.38-24.1; alpha: 0.98)], pale blue eyes [OR: 8.97 (95% CI 4.75-16.97; alpha: 0.83)], family history of intellectual disability [OR: 3.43 (95% CI 2.76-4.27; alpha: 0.81)] as well as autistic-like behavior [OR: 3.08 (95% CI 2.48-3.83; alpha: 0.77)], Flat feet [OR: 11.53 (95% CI 6.79-19.56; alpha:0.91)], plantar crease [OR: 3.74 (95% CI 2.67-5.24; alpha: 0.70)]. We noted a weaker positive association between transverse palmar crease [OR: 2.68 (95% CI 1.70-4.18; alpha: 0.51)], elongated face [OR: 3.69 (95% CI 2.84-4.81; alpha: 0.63)]; hyperextensible metacarpo-phalangeal joints [OR: 2.68 (95% CI 2.15-3.34; alpha: 0.57)] and the Fragile X syndrome. CONCLUSION: This study has identified the highest risk features for patients with Fragile X syndrome that have been used to design a universal clinical checklist.
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6. Mazefsky CA, Yu L, White SW, Siegel M, Pilkonis PA. {{The emotion dysregulation inventory: Psychometric properties and item response theory calibration in an autism spectrum disorder sample}}. {Autism Res}. 2018.
Individuals with autism spectrum disorder (ASD) often present with prominent emotion dysregulation that requires treatment but can be difficult to measure. The Emotion Dysregulation Inventory (EDI) was created using methods developed by the Patient-Reported Outcomes Measurement Information System (PROMIS((R)) ) to capture observable indicators of poor emotion regulation. Caregivers of 1,755 youth with ASD completed 66 candidate EDI items, and the final 30 items were selected based on classical test theory and item response theory (IRT) analyses. The analyses identified two factors: (a) Reactivity, characterized by intense, rapidly escalating, sustained, and poorly regulated negative emotional reactions, and (b) Dysphoria, characterized by anhedonia, sadness, and nervousness. The final items did not show differential item functioning (DIF) based on gender, age, intellectual ability, or verbal ability. Because the final items were calibrated using IRT, even a small number of items offers high precision, minimizing respondent burden. IRT co-calibration of the EDI with related measures demonstrated its superiority in assessing the severity of emotion dysregulation with as few as seven items. Validity of the EDI was supported by expert review, its association with related constructs (e.g., anxiety and depression symptoms, aggression), higher scores in psychiatric inpatients with ASD compared to a community ASD sample, and demonstration of test-retest stability and sensitivity to change. In sum, the EDI provides an efficient and sensitive method to measure emotion dysregulation for clinical assessment, monitoring, and research in youth with ASD of any level of cognitive or verbal ability. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This paper describes a new measure of poor emotional control called the Emotion Dysregulation Inventory (EDI). Caregivers of 1,755 youth with ASD completed candidate items, and advanced statistical techniques were applied to identify the best final items. The EDI is unique because it captures common emotional problems in ASD and is appropriate for both nonverbal and verbal youth. It is an efficient and sensitive measure for use in clinical assessments, monitoring, and research with youth with ASD.
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7. Messina A, Monda V, Sessa F, Valenzano A, Salerno M, Bitetti I, Precenzano F, Marotta R, Lavano F, Lavano SM, Salerno M, Maltese A, Roccella M, Parisi L, Ferrentino RI, Tripi G, Gallai B, Cibelli G, Monda M, Messina G, Carotenuto M. {{Sympathetic, Metabolic Adaptations, and Oxidative Stress in Autism Spectrum Disorders: How Far From Physiology?}}. {Frontiers in physiology}. 2018; 9: 261.
Autism spectrum disorders (ASD) is a complex and multifaceted neurobehavioral syndrome with no specific cause still identified, despite the worldwide increasing (prevalence for 1,000 children from 6.7 to 14.6, between 2000 and 2012). Many biological and instrumental markers have been suggested as potential predictive factors for the precocious diagnosis during infancy and/or pediatric age. Many studies reported structural and functional abnormalities in the autonomic system in subjects with ASD. Sleep problems in ASD are a prominent feature, having an impact on the social interaction of the patient. Considering the role of orexins (A and B) in wake-sleep circadian rhythm, we could speculate that ASD subjects may present a dysregulation in orexinergic neurotransmission. Conversely, oxidative stress is implicated in the pathophysiology of many neurological disorders. Nonetheless, little is known about the linkage between oxidative stress and the occurrence or the progress of autism and autonomic functioning; some markers, such as heart rate (HR), heart rate variability (HRV), body temperature, and galvanic skin response (GSR), may be altered in the patient with this so complex disorder. In the present paper, we analyzed an autism case report, focusing on the rule of the sympathetic activity with the aim to suggest that it may be considered an important tool in ASD evaluation. The results of this case confirm our hypothesis even if further studies needed.
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8. Shea LL, Xie M, Turcotte P, Marcus S, Field R, Newschaffer C, Mandell D. {{Brief Report: Service Use and Associated Expenditures Among Adolescents with Autism Spectrum Disorder Transitioning to Adulthood}}. {J Autism Dev Disord}. 2018.
This study compared Medicaid service utilization and expenditures among adolescents with autism spectrum disorder (ASD) to adolescents with intellectual disability (ID) as they aged into adulthood. Medicaid Analytic eXtract (MAX) data was used to identify a national cohort. Winsorization was utilized to control for expenditure outliers. A greater proportion of adolescents with ASD utilized most services. Decreases in the use of key services, including psychiatric outpatient services, were observed for both groups. Changes in medical services, such as increases in inpatient and long term care services, among the ASD cohort suggest medical needs of adolescents with ASD change as they age. Information remains lacking on changing ASD symptom presentation during the transition to adolescence.
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9. Uljarevic M, Hedley D, Nevill R, Evans DW, Cai RY, Butter E, Mulick JA. {{Brief report: Poor self-regulation as a predictor of individual differences in adaptive functioning in young children with autism spectrum disorder}}. {Autism Res}. 2018.
The present study examined the link between poor self-regulation (measured by the child behavior checklist dysregulated profile [DP]) and core autism symptoms, as well as with developmental level, in a sample of 107 children with autism spectrum disorder (ASD) aged 19-46 months. We further examined the utility of DP in predicting individual differences in adaptive functioning, relative to the influence of ASD severity, chronological age (CA), and developmental level. Poor self-regulation was unrelated to CA, developmental level, and severity of ADOS-2 restricted and repetitive behaviors, but was associated with lower ADOS-2 social affect severity. Hierarchical regression identified poor self-regulation as a unique independent predictor of adaptive behavior, with more severe dysregulation predicting poorer adaptive functioning. Results highlight the importance of early identification of deficits in self-regulation, and more specifically, of the utility of DP, when designing individually tailored treatments for young children with ASD. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study explored the relationship between poor self-regulation and age, verbal and non-verbal developmental level, severity of autism symptoms and adaptive functioning in 107 children with autism under 4 years of age. Poor self-regulation was unrelated to age, developmental level, and severity of restricted and repetitive behaviors but was associated with lower social affect severity. Importantly, more severe self-regulation deficits predicted poorer adaptive functioning.
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10. Vidal V, Robertson S, DeThorne L. {{Illustrating a Supports-Based Approach Toward Friendship With Autistic Students}}. {American journal of speech-language pathology}. 2018: 1-10.
Purpose: The present clinical focus article describes and illustrates 3 key elements of a supports-based approach to enhancing friendship with autistic students. Method: In comparison to the predominant skills-based approach, we highlight 3 key elements of a supports-based approach to social interaction for autistic children and youth. We then offer descriptive details of the activity-based music program as an illustrative example of a program that integrated all 3 elements of a supports-based approach. Specifically, we designed an activity-based music program to enhance social interaction among a 7-year-old autistic student and 4 of his nonautistic peers. Results: We focused on 3 key elements of a supports-based approach for enhancing peer interaction: (a) focusing on participation in a shared activity, (b) encouraging flexible use of multiple communicative resources, and (c) supporting egalitarian interaction. Conclusion: A supports-based approach presents a theoretically distinct and viable alternative to a skills-based approach in the design of social supports for autistic students and their peers.
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11. Yamamoto K, Masumoto K. {{Brief Report: Memory for Self-Performed Actions in Adults with Autism Spectrum Disorder: Why Does Memory of Self Decline in ASD?}}. {J Autism Dev Disord}. 2018.
The decline in self-related memory in ASD was investigated by using encoding, forgetting, and source monitoring. Participants memorized action sentences verbally, observationally, or by enacted encoding. Then, they underwent recall, recognition, and source monitoring memory tests immediately and 1 week later. If the information were properly encoded, memory performance in the enacted encoding would be the highest (enactment effect). The result of memory tests in ASD and TD people showed that enacted encoding was superior. However, recall and source monitoring in ASD was significantly lower than in TD, which was not the case for recognition and forgetting. These results suggest that the decline in memory of self in ASD is associated with a deficit in memory reconstruction and source monitoring.
