1. Abdolmaleky HM, Zhou JR, Thiagalingam S. {{An update on the epigenetics of psychotic diseases and autism}}. {Epigenomics};2015 (Jun);7(3):427-449.
The examination of potential roles of epigenetic alterations in the pathogenesis of psychotic diseases have become an essential alternative in recent years as genetic studies alone are yet to uncover major gene(s) for psychosis. Here, we describe the current state of knowledge from the gene-specific and genome-wide studies of postmortem brain and blood cells indicating that aberrant DNA methylation, histone modifications and dysregulation of micro-RNAs are linked to the pathogenesis of mental diseases. There is also strong evidence supporting that all classes of psychiatric drugs modulate diverse features of the epigenome. While comprehensive environmental and genetic/epigenetic studies are uncovering the origins, and the key genes/pathways affected in psychotic diseases, characterizing the epigenetic effects of psychiatric drugs may help to design novel therapies in psychiatry.
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2. Brugha TS, Doos L, Tempier A, Einfeld S, Howlin P. {{Outcome measures in intervention trials for adults with autism spectrum disorders; a systematic review of assessments of core autism features and associated emotional and behavioural problems}}. {Int J Methods Psychiatr Res};2015 (Jun);24(2):99-115.
A systematic review was conducted of outcome measures used in treatment trials for older adolescents and adults with autism spectrum disorders (ASDs). Of 818 titles only 30 articles (19 of which involved pharmacological treatments) were identified that met inclusion criteria (sample size > 5; mean age of group > 15 years; mean IQ > 30; ASD diagnosis confirmed; use of objective ASD outcome measures; focus on symptoms core to or typically associated with ASDs). Selected studies included randomized and placebo-controlled trials, retrospective assessment studies, case series and open label or case-control trials. Use of outcome measures varied with frequent use of non-standardized assessments, very little use of measures designed specifically for individuals with ASD or of instruments focusing on core ASD deficits, such as communication or social functioning. Most commonly used were the Clinical Global Impression (CGI) rating scale and the Yale-Brown Obsessive Compulsive Scale (Y-BOCS). The strengths or deficiencies of the outcome measures used were not systematically evaluated. Although there are now many well controlled treatment trials for children with ASDs, adult intervention research is very limited. The lack of valid and reliable outcome measures for adults with ASDs compromises attempts at treatment evaluation. Copyright (c) 2015 John Wiley & Sons, Ltd.
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3. Chandler S, Howlin P, Simonoff E, O’Sullivan T, Tseng E, Kennedy J, Charman T, Baird G. {{Emotional and behavioural problems in young children with autism spectrum disorder}}. {Dev Med Child Neurol};2015 (Jun 16)
AIM: To assess the frequency, pervasiveness, associated features, and persistence of emotional and behavioural problems in a community sample of young children with autism spectrum disorder (ASD). METHOD: Parents (n=277) and teachers (n=228) of 4- to 8-year-olds completed the Developmental Behaviour Checklist (DBC). Intellectual ability and autism symptomatology were also assessed. A subsample repeated the DBC. RESULTS: Three-quarters of the cohort scored above the clinical cut-off on the Developmental Behaviour Checklist Primary Carer Version (DBC-P) questionnaire; almost two-thirds of these scored above cut-off on the Developmental Behaviour Checklist Teacher Version (DBC-T) questionnaire. In 81%, problems persisted above threshold 14 months later. Higher DBC-P scores were associated with greater autism symptomatology, higher deprivation index, parental unemployment, and more children in the home but not with parental education or ethnicity, or child’s age or sex. Children with IQ>70 scored higher for disruptive behaviour, depression, and anxiety symptoms; those with IQ<70 scored higher for self-absorption and hyperactivity. INTERPRETATION: The DBC identifies a range of additional behaviour problems that are common in ASD and which could be the focus for specific intervention. The results highlight the potential benefit of systematic screening for co-existing problems.
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4. Costanzo V, Chericoni N, Amendola FA, Casula L, Muratori F, Scattoni ML, Apicella F. {{Early detection of autism spectrum disorders: From retrospective home video studies to prospective ‘high risk’ sibling studies}}. {Neurosci Biobehav Rev};2015 (Jun 17)
In the autism spectrum disorders (ASD) field of research there is scientific consensus on the importance of early identification (and subsequently, of timely treatment) for a better prognosis. For this reason, early diagnosis represents a common challenge for clinicians and an area of great interest for researchers. In the past decades, many studies have focused on identifying subclinical signs of ASD with different types of experimental designs and methods, both retrospectively and prospectively. The purpose of this narrative review is to present changes in methodology, from an historical point of view, highlighting the strengths and weaknesses of different research designs. Conclusions are drawn taking into account potentialities of prospective designs for the study of early predictors of ASD.
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5. Gronborg TK, Hansen SN, Nielsen SV, Skytthe A, Parner ET. {{Stoppage in Autism Spectrum Disorders}}. {J Autism Dev Disord};2015 (Jun 16)
Stoppage refers to changes in reproductive behavior following the birth of a child with a severe disease. The presence of stoppage can bias estimates of sibling recurrence risk if not properly addressed. If stoppage occurs non-randomly (differential stoppage), it is possibly an additional source of bias in sibling recurrence risk estimation. This study investigated whether stoppage occurs in Danish families with a firstborn child diagnosed with autism spectrum disorders, and if stoppage was differential. We found that stoppage occurs moderately in Danish families affected by autism spectrum disorders, and that stoppage is differential. However, differential stoppage is a minor source of estimation bias in Danish sibling recurrence risk studies of autism spectrum disorders.
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6. Hall SS, Frank MC, Pusiol GT, Farzin F, Lightbody AA, Reiss AL. {{Quantifying naturalistic social gaze in fragile X syndrome using a novel eye tracking paradigm}}. {Am J Med Genet B Neuropsychiatr Genet};2015 (Jun 16)
A hallmark behavioral feature of fragile X syndrome (FXS) is the propensity for individuals with the syndrome to exhibit significant impairments in social gaze during interactions with others. However, previous studies employing eye tracking methodology to investigate this phenomenon have been limited to presenting static photographs or videos of social interactions rather than employing a real-life social partner. To improve upon previous studies, we used a customized eye tracking configuration to quantify the social gaze of 51 individuals with FXS and 19 controls, aged 14-28 years, while they engaged in a naturalistic face-to-face social interaction with a female experimenter. Importantly, our control group was matched to the FXS group on age, developmental functioning, and degree of autistic symptomatology. Results showed that participants with FXS spent significantly less time looking at the face and had shorter episodes (and longer inter-episodes) of social gaze than controls. Regression analyses indicated that communication ability predicted higher levels of social gaze in individuals with FXS, but not in controls. Conversely, degree of autistic symptoms predicted lower levels of social gaze in controls, but not in individuals with FXS. Taken together, these data indicate that naturalistic social gaze in FXS can be measured objectively using existing eye tracking technology during face-to-face social interactions. Given that impairments in social gaze were specific to FXS, this paradigm could be employed as an objective and ecologically valid outcome measure in ongoing Phase II/Phase III clinical trials of FXS-specific interventions. (c) 2015 Wiley Periodicals, Inc.
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7. McMahon CM, Solomon M. {{Brief Report: Parent-Adolescent Informant Discrepancies of Social Skill Importance and Social Skill Engagement for Higher-Functioning Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jun 16)
Parent- and adolescent-report of social skill importance and social skill engagement on the Social Skills Rating System (Gresham and Elliott in The social skills rating system, American Guidance Service, Circle Pines, 1990) were assessed in higher-functioning adolescents with Autism Spectrum Disorder (ASD). Compared to parents, adolescents reported that social skills were less important. Additionally, adolescents reported that they engaged in social skills more frequently than parents reported them to be engaging in social skills. Parents, but not adolescents, reported a discrepancy between importance and engagement, such that the importance of social skills was rated higher than the frequency of adolescent engagement in social skills. These results suggest that social skills interventions for individuals with ASD may need to target awareness of social skill importance and accurate monitoring of social skill engagement.
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8. Moores G, Lidster N, Boyd K, Archer T, Kates N, Stobbe K. {{Presence with purpose: attitudes of people with developmental disability towards health care students}}. {Med Educ};2015 (Jul);49(7):731-739.
CONTEXT: Early clinical encounters help medical and nursing students build professional competencies. However, there is a necessary emphasis on patient autonomy and appropriate consent. Although most individuals do not object to student involvement in clinical encounters, there are occasions when personal preference and health care education conflict. Many studies have evaluated patient attitudes towards students across a variety of specialties. OBJECTIVES: The purpose of this study was to identify the attitudes, comfort level and preferences of individuals with developmental disability (DD) towards the presence and involvement of medical and nursing students during clinical encounters. METHODS: Adults with DD across the Hamilton-Niagara region were invited to participate. Focus groups were moderated by two students with a health care facilitator and physician-educator. Participants were provided with focus group questions in advance and encouraged to bring communication aids or care providers. Data were analysed for emerging themes by two independent reviewers, who then compared results. RESULTS: Twenty-two individuals participated. A wide range of opinions were expressed. Some participants were positively disposed towards students and perceived better care and improved communication with the health care team. Others were indifferent to students in a clinical setting. The final group was opposed to the presence of health care students, expressing confusion over their role and purpose, uneasiness with deviation from the norm, and concerns about confidentiality. Informative introductions with confidentiality statements and the presence of a supervising clinician were seen as helpful. CONCLUSIONS: People with DD are affected by above-average health care needs. Their input into health care planning has been limited. Their opinions on health care learners varied considerably. Themes relating to attitudes, comfort and preferences about student involvement provide impetus for health care training practices that promote person-centred approaches and improvements to the quality of care received by people with DD.
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9. Nazneen N, Rozga A, Smith CJ, Oberleitner R, Abowd GD, Arriaga RI. {{A Novel System for Supporting Autism Diagnosis Using Home Videos: Iterative Development and Evaluation of System Design}}. {JMIR Mhealth Uhealth};2015;3(2):e68.
BACKGROUND: Observing behavior in the natural environment is valuable to obtain an accurate and comprehensive assessment of a child’s behavior, but in practice it is limited to in-clinic observation. Research shows significant time lag between when parents first become concerned and when the child is finally diagnosed with autism. This lag can delay early interventions that have been shown to improve developmental outcomes. OBJECTIVE: To develop and evaluate the design of an asynchronous system that allows parents to easily collect clinically valid in-home videos of their child’s behavior and supports diagnosticians in completing diagnostic assessment of autism. METHODS: First, interviews were conducted with 11 clinicians and 6 families to solicit feedback from stakeholders about the system concept. Next, the system was iteratively designed, informed by experiences of families using it in a controlled home-like experimental setting and a participatory design process involving domain experts. Finally, in-field evaluation of the system design was conducted with 5 families of children (4 with previous autism diagnosis and 1 child typically developing) and 3 diagnosticians. For each family, 2 diagnosticians, blind to the child’s previous diagnostic status, independently completed an autism diagnosis via our system. We compared the outcome of the assessment between the 2 diagnosticians, and between each diagnostician and the child’s previous diagnostic status. RESULTS: The system that resulted through the iterative design process includes (1) NODA smartCapture, a mobile phone-based application for parents to record prescribed video evidence at home; and (2) NODA Connect, a Web portal for diagnosticians to direct in-home video collection, access developmental history, and conduct an assessment by linking evidence of behaviors tagged in the videos to the Diagnostic and Statistical Manual of Mental Disorders criteria. Applying clinical judgment, the diagnostician concludes a diagnostic outcome. During field evaluation, without prior training, parents easily (average rating of 4 on a 5-point scale) used the system to record video evidence. Across all in-home video evidence recorded during field evaluation, 96% (26/27) were judged as clinically useful, for performing an autism diagnosis. For 4 children (3 with autism and 1 typically developing), both diagnosticians independently arrived at the correct diagnostic status (autism versus typical). Overall, in 91% of assessments (10/11) via NODA Connect, diagnosticians confidently (average rating 4.5 on a 5-point scale) concluded a diagnostic outcome that matched with the child’s previous diagnostic status. CONCLUSIONS: The in-field evaluation demonstrated that the system’s design enabled parents to easily record clinically valid evidence of their child’s behavior, and diagnosticians to complete a diagnostic assessment. These results shed light on the potential for appropriately designed telehealth technology to support clinical assessments using in-home video captured by families. This assessment model can be readily generalized to other conditions where direct observation of behavior plays a central role in the assessment process.
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10. Neul JL, Sahin M. {{Therapeutic Advances in Autism and Other Neurodevelopmental Disorders}}. {Neurotherapeutics};2015 (Jun 16)
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11. Peterson CC, Slaughter V, Brownell C. {{Children with autism spectrum disorder are skilled at reading emotion body language}}. {J Exp Child Psychol};2015 (Jun 12);139:35-50.
Autism is commonly believed to impair the ability to perceive emotions, yet empirical evidence is mixed. Because face processing may be difficult for those with autism spectrum disorder (ASD), we developed a novel test of recognizing emotion via static body postures (Body-Emotion test) and evaluated it with children aged 5 to 12years in two studies. In Study 1, 34 children with ASD and 41 typically developing (TD) controls matched for age and verbal intelligence (VIQ [verbal IQ]) were tested on (a) our new Body-Emotion test, (b) a widely used test of emotion recognition using photos of eyes as stimuli (Baron-Cohen et al.’s « Reading Mind in the Eyes: Child » or RMEC [Journal of Developmental and Learning Disorders, 2001, Vol. 5, pp. 47-78]), (c) a well-validated theory of mind (ToM) battery, and (d) a teacher-rated empathy scale. In Study 2 (33 children with ASD and 31 TD controls), the RMEC test was simplified to the six basic human emotions. Results of both studies showed that children with ASD performed as well as their TD peers on the Body-Emotion test. Yet TD children outperformed the ASD group on ToM and on both the standard RMEC test and the simplified version. VIQ was not related to perceiving emotions via either body posture or eyes for either group. However, recognizing emotions from body posture was correlated with ToM, especially for children with ASD. Finally, reading emotions from body posture was easier than reading emotions from eyes for both groups.
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12. Sauce B, Wass C, Netrakanti M, Saylor J, Schachner M, Matzel LD. {{Heterozygous L1-deficient mice express an autism-like phenotype}}. {Behav Brain Res};2015 (Jun 13)
The L1CAM (L1) gene encodes a cell adhesion molecule that contributes to several important processes in the developing and adult nervous system, including neuronal migration, survival, and plasticity. In humans and mice, mutations in the X chromosome-linked gene L1 cause severe neurological defects in males. L1 heterozygous female mice with one functional copy of the L1 gene show complex morphological features that are different from L1 fully-deficient and wild-type littermate mice. However, almost no information is available on the behavior of L1 heterozygous mice and humans. Here, we investigated the behavior of heterozygous female mice in which the L1 gene is constitutively inactivated. These mice were compared to wild-type littermate females. Animals were assessed in five categories of behavioral tests: five tests for anxiety/stress/exploration, four tests for motor abilities, two tests for spatial learning, three tests for social behavior, and three tests for repetitive behavior. We found that L1 heterozygous mice express abnormalities in the Sociability test (a standard test used in animal models of autism) and exhibit excessive self-grooming (a repetitive behavior also typical in animal models of autism). L1 heterozygous mice also exhibited an increase in sensitivity to light, assessed by a reluctance to enter the lighted areas of novel environments. However, levels of anxiety, stress, motor abilities, and spatial learning in L1 heterozygous mice were similar to those of wild-type mice. These observations raise the possibility that using molecules known to trigger L1 functions may become valuable in ameliorating the consequences of reduced levels in L1 expression in humans.
