1. Bourke-Taylor H, Pallant JF. {{The Assistance to Participate Scale to measure play and leisure support for children with developmental disability: update following Rasch analysis}}. {Child: care, health and development}. 2013 Jul;39(4):544-51.
BACKGROUND: The Assistance to Participate Scale (APS) was designed to measure the primary carer’s estimate of the amount of assistance that their school-aged child with a disability requires to participate in play and leisure activities. Previous research suggests that the 8-item APS has good internal consistency. The construct validity of the scale is supported by strong correlations with instruments measuring similar constructs and discrimination between groups of children with developmental disability, based on extent of need for caregiver assistance. AIM: The aim of this current study was to undertake further evaluation of the psychometric properties of the APS using Rasch analysis. METHOD: Rasch analysis was conducted using the RUMM2030 program to assess the APS items in terms of their overall fit to the Rasch model, individual item fit, response format, targeting and dimensionality. RESULTS: Rasch analysis showed good fit to the model, with no misfitting items and good internal consistency (PSI = 0.85). There was no differential item functioning across mothers’ age, education level or child’s age. Dimensionality testing supported the combination of all items to create a total score. Most items showed disordered thresholds, suggesting some inconsistencies in the way respondents used the response scale options. CONCLUSIONS: The APS has been subjected to substantial psychometric testing during development and evaluation, revealing a sound, brief and easy-to-use scale. The APS has a number of potential clinical and research uses measuring the amount of additional assistance that children require from their primary care giver to participate in play activities.
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2. Hedvall A, Fernell E, Holm A, Asberg Johnels J, Gillberg C, Billstedt E. {{Autism, processing speed, and adaptive functioning in preschool children}}. {TheScientificWorldJournal}. 2013;2013:158263.
Objectives. To study cognitive test profiles with a focus on processing speed in a representative group of preschool children with autism spectrum disorder (ASD) and relate processing speed to adaptive functioning. Methods. Cognitive assessments were performed in 190 3.6-6.6-year-old children (164 boys and 26 girls) with ASD, using either Griffiths’ developmental scales (n = 77) or the Wechsler Preschool and Primary Scale of Intelligence-Third Edition (WPPSI-III) (n = 113). Cognitive data were related to adaptive functioning as measured by Vineland Adaptive Behavior Scales (VABS). Results. Cognitive profiles were characterized by low verbal skills. Low processing speed quotients (PSQs) were found in 66 (78%) of the 85 children who were able to participate in the processing speed subtests. Except for Socialization, all VABS domains (Communication, Motor Skills, Daily Living Skills, and Adaptive Behavior Composite scores) correlated significantly with PSQ. Multiple regression analysis showed that PSQ predicted 38%, 35%, 34%, and 37% of the variance for Communication, Daily Living Skills, Motor Skills, and total Adaptive Composite scores, respectively. Conclusion. Preschool children with ASD had uneven cognitive profiles with low verbal skills, and, relatively, even lower PSQs. Except for Socialization, adaptive functioning was predicted to a considerable degree by PSQ.
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3. Kern JK, Garver CR, Mehta JA, Hannan PA, Bakken LE, Vidaud AM, Abraham J, Daoud Y. {{Prospective, Blinded Exploratory Evaluation of the PlayWisely Program in Children with Autism Spectrum Disorder}}. {The Yale journal of biology and medicine}. 2013 Jun;86(2):157-67.
The purpose of the study was to explore a low-cost intervention that targets an increasingly common developmental disorder. The study was a blinded, exploratory evaluation of the PlayWisely program on autism symptoms and essential learning foundation skills (attention, recognition, and memory skills) in children with a diagnosis of autism, autism spectrum disorder (ASD), pervasive developmental disorder – not otherwise specified (PDD-NOS), and Asperger syndrome (AS). Eighteen children, 1 to 10 years of age, were evaluated using the Childhood Autism Rating Scale, Second Edition (CARS2); the PlayWisely Interactive Test of Attention, Recognition, and Memory Skills; Autism Treatment Evaluation Checklist (ATEC), and the Modified Checklist for Autism in Toddlers (M-CHAT). There were significant treatment effects for the PlayWisely measure on the Yellow Sets that examine recognition; Purple Sets that examine brain region agility and early memory skills; Blue Sets that examine phonemic awareness and recognition; and for the Total Sets, with a similar trend toward improvement in the Green Sets that examine perception and Red Sets that examine attention. No other measures reached statistical significance. The results suggest that PlayWisely can improve recognition, brain region agility, phonemic awareness, letter recognition, and early memory skills in ASD. It was observed by the parents, coaches, and study investigators that the children who were less than 3 years of age showed improvements in autism symptoms; however, the group was too small to reach statistical significance. Future studies are needed to see if this intervention can mitigate autism symptoms in very young children with ASD.
4. Kirkham YA, Allen L, Kives S, Caccia N, Spitzer RF, Ornstein MP. {{Trends in Menstrual Concerns and Suppression in Adolescents With Developmental Disabilities}}. {The Journal of adolescent health : official publication of the Society for Adolescent Medicine}. 2013 Jun 11.
PURPOSE: Demonstrate changes in methods of menstrual suppression in adolescents with developmental disabilities in a recent 5-year cohort compared with an historical cohort at the same hospital. METHODS: Retrospective cohort study of patients with physical and cognitive challenges presenting for menstrual concerns at an Adolescent Gynecology Clinic between 2006 and 2011 compared with a previous published cohort (1998 to 2003). RESULTS: Three hundred patients with developmental disabilities aged 7.3 to 18.5 years (mean 12.1 +/- 1.6) were analyzed. Caregiver concerns included menstrual suppression, hygiene, caregiver burden, and menstrual symptoms. Ninety-five percent of patients had cognitive disabilities, 4.4% had only physical impairments. Thirty-two (31.7) percent of patients presented premenarchally. The most commonly selected initial method of suppression was extended or continuous oral contraceptive pill (OCP) (42.3%) followed by patch (20%), expectant management (14.9%), depot medroxyprogesterone acetate (DMPA) (11.6%), and levonorgestrel intrauterine system (LNG-IUS) (2.8%). Published data from 1998 to 2003 indicated a preference for DMPA in 59% and OCP in 17% of patients. The average number of methods to reach caregiver satisfaction was 1.5. Sixty-five percent of initial methods were continued. The most common reasons for discontinuation were breakthrough bleeding, decreased bone mineral density, or difficulties with patch adherence. Second-choice selections included OCP (42.5%), LNG-IUS inserted under general anesthesia (19.2%), DMPA (17.8%), and patch (13.7%). CONCLUSIONS: Since identification of decreased bone mineral density with DMPA and emergence of new contraceptive options, use of extended OCP or patch has surpassed DMPA for menstrual suppression in our patient population. LNG-IUS is an accepted, successful second-line option in adolescents with developmental disabilities.
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5. Kumar SL. {{Examining the characteristics of visuospatial information processing in individuals with high-functioning autism}}. {The Yale journal of biology and medicine}. 2013 Jun;86(2):147-56.
Information processing in individuals with autism is marked by a unique interplay of strengths and weaknesses that in concert distinguishes social cognition in autism from individuals with typical-functioning brains. In autism, difficulties with higher cognitive processing and enhancement of low-level visuospatial processing, such as in visual search tasks, may lead to diminished central coherence, which has the potential to hinder how an individual functions in social interactions where integration of components such as intention, emotion, and context paints the global picture necessary for social processing. A more thorough understanding of the cognitive and neural processes in autism is important for the advancement of intervention programs. The intention of this review is to discuss the implications of neuroimaging and behavioral studies that have analyzed the higher cognitive functions in individuals with high-functioning autism, with a particular emphasis on studies that have investigated visuospatial processing.
6. Main PA, Thomas P, Esterman A, Fenech MF. {{Necrosis is increased in lymphoblastoid cell lines from children with autism compared with their non-autistic siblings under conditions of oxidative and nitrosative stress}}. {Mutagenesis}. 2013 Jul;28(4):475-84.
Autism spectrum disorders are a heterogeneous group of neurodevelopmental conditions characterised by impairments in reciprocal social interaction, communication and stereotyped behaviours. As increased DNA damage events have been observed in a range of other neurological disorders, it was hypothesised that they would be elevated in lymphoblastoid cell lines (LCLs) obtained from children with autism compared with their non-autistic siblings. Six case-sibling pairs of LCLs from children with autistic disorder and their non-autistic siblings were obtained from the Autism Genetic Resource Exchange (AGRE) and cultured in standard RPMI-1640 tissue culture medium. Cells were exposed to medium containing either 0, 25, 50, 100 and 200 microM hydrogen peroxide (an oxidative stressor) or 0, 5, 10, 20 and 40 microM s-nitroprusside (a nitric oxide producer) for 1h. Following exposure, the cells were microscopically scored for DNA damage, cytostasis and cytotoxicity biomarkers as measured using the cytokinesis-block micronucleus cytome assay. Necrosis was significantly increased in cases relative to controls when exposed to oxidative and nitrosative stress (P = 0.001 and 0.01, respectively). Nuclear division index was significantly lower in LCLs from children with autistic disorder than their non-autistic siblings when exposed to hydrogen peroxide (P = 0.016), but there was no difference in apoptosis, micronucleus frequency, nucleoplasmic bridges or nuclear buds. Exposure to s-nitroprusside significantly increased the number of micronuclei in non-autistic siblings compared with cases (P = 0.003); however, other DNA damage biomarkers, apoptosis and nuclear division did not differ significantly between groups. The findings of this study show (i) that LCLs from children with autism are more sensitive to necrosis under conditions of oxidative and nitrosative stress than their non-autistic siblings and (ii) refutes the hypothesis that children with autistic disorder are abnormally susceptible to DNA damage.
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7. Monaghan KG, Lyon E, Spector EB. {{ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2013 Jun 13.
Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document provides updated information regarding FMR1 gene mutations, including prevalence, genotype-phenotype correlation, and mutation nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene, including triplet repeat-primed and methylation-specific polymerase chain reaction. In addition to report elements, examples of laboratory reports for various genotypes are also included.Genet Med advance online publication 13 June 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.61.
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8. Pastore LM, Karns LB, Ventura K, Clark ML, Steeves RH, Callanan N. {{Longitudinal Interviews of Couples Diagnosed with Diminished Ovarian Reserve Undergoing Fragile X Premutation Testing}}. {Journal of genetic counseling}. 2013 Jun 14.
About 10 % of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR), of which < 5 % will become pregnant spontaneously. Fragile X (FMR1) genetic testing may provide a reason for her early ovarian aging and/or have reproductive implications. Seven women with DOR (genetic study subset) and the male partners of six of these women were separately interviewed about the experience of being asked to undergo this unanticipated genetic test. Three interviews were conducted (before, within 1 week after, and 3 months after learning the test results). None of the participants carried the FMR1 premutation (largest FMR1 allele 27-50 CGG repeats). For women, their pregnancy-seeking journey was long and exhausting. Women understood the reproductive implications of carrying the FMR1 premutation, and hoped for a negative result. Being offered a genetic test caused women to pause and re-think their future reproductive plans. Husbands viewed the infertility journey as filled with unknowns, of which the genetic test results would be one more puzzle piece. The expense of fertility testing/treatment was mentioned by both spouses, though more notably by husbands. The introduction of a possible genetic cause of infertility, with additional potential health consequences for future biological children, caused women to re-think their quest for pregnancy. In contrast, the genetic test was viewed as an additional source of information for their husbands as opposed to raising concern regarding potential reproductive ramifications.
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9. Roberts EM, English PB. {{Bayesian modeling of time-dependent vulnerability to environmental hazards: an example using autism and pesticide data}}. {Statistics in medicine}. 2013 Jun 15;32(13):2308-19.
Background: Flexible modeling of time-dependent effects is required when vulnerability to hazards can be expected to vary over time, but the nature of this temporal dependency cannot be specified in advance. We present an analytic approach requiring minimal a priori assumptions about temporal parameters and producing measures of uncertainty for these parameters. Methods: As a demonstration, we employ data describing autism spectrum disorders and applications of organochlorine pesticides in proximity to maternal residence before, during, and after pregnancy. We formulate a Bayesian model specifying temporal vulnerability as a flexible step function and constrain the dose-response relationship to be linear. We separately pooled information regarding hazard frequency and magnitude among cases and controls and used it as inputs for a Metropolis-within-Gibbs algorithm. To assess statistical significance, we conduct Monte Carlo simulations based on parameters calculated in the Gibbs portion of the algorithm. Results: This method delineated two discrete periods of association between hazard and outcome. The first corresponded to a previously noted period of vulnerability with the added information of wide credible intervals, suggesting a high degree of uncertainty with respect to timing. Parameters for the second, previously unobserved period displayed slightly higher precision. Assessment of model fit favored the simultaneous inclusion of both these periods, and both periods appeared statistically significant on the basis of posterior distributions of specific parameters using Monte Carlo simulations. Conclusions: This method enabled a fuller accounting of time-dependent associations between hazards and outcomes without specifying temporal structure in advance. Copyright (c) 2012 John Wiley & Sons, Ltd.
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10. Stobbe G, Liu Y, Wu R, Hudgings LH, Thompson O, Hisama FM. {{Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2013 Jun 13.
Purpose:Array comparative genomic hybridization is available for the evaluation of autism spectrum disorders. The diagnostic yield of testing is 5-18% in children with developmental disabilities, including autism spectrum disorders and multiple congenital anomalies. The yield of array comparative genomic hybridization in the adult autism spectrum disorder population is unknown.Methods:We performed a retrospective chart review for 40 consecutive patients referred for genetic evaluation of autism from July 2009 through April 2012. Four pediatric patients were excluded. Medical history and prior testing were reviewed. Clinical genetic evaluation and testing were offered to all patients.Results:The study population comprised 36 patients (age range 18-45, mean 25.3 years). An autism spectrum disorder diagnosis was confirmed in 34 of 36 patients by medical record review. One patient had had an abnormal karyotype; none had prior array comparative genomic hybridization testing. Of the 23 patients with autism who underwent array comparative genomic hybridization, 2 of 23 (8.7%) had pathogenic or presumed pathogenic abnormalities and 2 of 23 (8.7%) had likely pathogenic copy-number variants. An additional 5 of 23 (22%) of autism patients had variants of uncertain significance without subclassification.Conclusion:Including one patient newly diagnosed with fragile X syndrome, our data showed abnormal or likely pathogenic findings in 5 of 24 (21%) adult autism patients. Genetic reevaluation in adult autism patients is warranted.Genet Med advance online publication 13 June 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.78.
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11. Tunc-Ozcan E, Ullmann TM, Shukla PK, Redei EE. {{Low-Dose Thyroxine Attenuates Autism-Associated Adverse Effects of Fetal Alcohol in Male Offspring’s Social Behavior and Hippocampal Gene Expression}}. {Alcoholism, clinical and experimental research}. 2013 Jun 13.
BACKGROUND: Fetal alcohol spectrum disorder (FASD) is characterized by neurodevelopmental anomalies manifesting in cognitive and behavioral deficits in the offspring with diverse severities. Social behavior is affected in FASD, and these deficits overlap with those of autism spectrum disorder (ASD). Identifying some of the molecular characteristics related to ASD in an animal model of FASD could ultimately provide details on the underlying molecular mechanisms of both disorders that could lead to novel treatments. METHODS: Pregnant Sprague-Dawley rats received the following diets: control (C; ad libitum standard laboratory chow), nutritional control pair-fed (PF), ethanol (EtOH), or an EtOH diet supplemented with 0.3, 1.5, or 7.5 mg thyroxine (T4)/l in the diet. Social behavior and memory were tested in the adult offspring. Plasma total T4, free T3 (fT3), and thyroid-stimulating hormone (TSH) levels were measured. Hippocampal expression of Gabrb3, Ube3a, Nr2b, Rasgrf1, and Dio3 were measured by RT-qPCR and protein levels of Mecp2 and Slc25a12 by Western blotting. RESULTS: Adult male offspring of EtOH dams showed elevated fT3 and low TSH levels. Adult male, but not female, offspring of EtOH dams exhibited social behavior and memory deficits. Expression of autism candidates, Gabrb3, Ube3a, Mecp2, and Slc25a12, was significantly increased in the hippocampus of male offspring of EtOH dams. Hippocampal Nr2b and Dio3 were also increased, while Rasgrf1 was decreased in the same population. Peripheral thyroid function, social behavioral deficits, and altered expression of the above genes were normalized by simultaneous administration of 0.3 mg/l T4 in the EtOH diet. CONCLUSIONS: Our data suggest that social interaction deficits of FASD share molecular mechanism with ASD by showing altered hippocampal expression of several ASD candidate genes. Social interaction deficits as well as the gene expression changes in the offspring of EtOH-consuming dams can be reversed by low dose of thyroid hormone supplementation to the mothers.
