1. {{Correction: DUF1220 Dosage Is Linearly Associated with Increasing Severity of the Three Primary Symptoms of Autism}}. {PLoS Genet};2014 (Apr);10(4):e1004373.
[This corrects the article DOI: 10.1371/journal.pgen.1004241.].
Lien vers le texte intégral (Open Access ou abonnement)
2. Downs J, Torode I, Ellaway C, Jacoby P, Bunting C, Wong K, Christodoulou J, Leonard H. {{Family satisfaction following spinal fusion in Rett syndrome}}. {Dev Neurorehabil};2014 (Apr 11)
Abstract Purpose: We evaluated family satisfaction following spinal fusion in girls with Rett syndrome. Methods: Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on satisfaction overall, care processes and expected changes in health and function. Content analysis of responses to open-ended questions was conducted. Results: Families reported high levels of overall satisfaction and consistently high ratings in relation to surgical and ICU care. Outstanding clinical care and the development of strong partnerships with clinical staff were much appreciated by families, whereas poor information exchange and inconsistent care caused concerns. Conclusions: Family satisfaction is an important outcome within a patient-centred quality of care framework. Our findings suggest strategies to inform the delivery of care in relation to spinal fusion for Rett syndrome and could also inform the hospital care of other children with disability and a high risk of hospitalization.
Lien vers le texte intégral (Open Access ou abonnement)
3. Froehlich-Santino W, Londono Tobon A, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, O’Hara R, Hallmayer J. {{Prenatal and perinatal risk factors in a twin study of autism spectrum disorders}}. {J Psychiatr Res};2014 (Mar 29)
INTRODUCTION: Multiple studies associate prenatal and perinatal complications with increased risks for autism spectrum disorders (ASDs). The objectives of this study were to utilize a twin study design to 1) Investigate whether shared gestational and perinatal factors increase concordance for ASDs in twins, 2) Determine whether individual neonatal factors are associated with the presence of ASDs in twins, and 3) Explore whether associated factors may influence males and females differently. METHODS: Data from medical records and parent response questionnaires from 194 twin pairs, in which at least one twin had an ASD, were analyzed. RESULTS: Shared factors including parental age, prenatal use of medications, uterine bleeding, and prematurity did not increase concordance risks for ASDs in twins. Among the individual factors, respiratory distress demonstrated the strongest association with increased risk for ASDs in the group as a whole (OR 2.11, 95% CI 1.27-3.51). Furthermore, respiratory distress (OR 2.29, 95% CI 1.12-4.67) and other markers of hypoxia (OR 1.99, 95% CI 1.04-3.80) were associated with increased risks for ASDs in males, while jaundice was associated with an increased risk for ASDs in females (OR 2.94, 95% CI 1.28-6.74). CONCLUSIONS: Perinatal factors associated with respiratory distress and other markers of hypoxia appear to increase risk for autism in a subgroup of twins. Future studies examining potential gender differences and additional prenatal, perinatal and postnatal environmental factors are required for elucidating the etiology of ASDs and suggesting new methods for treatment and prevention.
Lien vers le texte intégral (Open Access ou abonnement)
4. McLay LL, France K. {{Empirical research evaluating non-traditional approaches to managing sleep problems in children with autism}}. {Dev Neurorehabil};2014 (Apr 11)
Abstract Objective: This paper examines the efficacy of non-behavioural and non-pharmacological approaches to the treatment of sleep disturbance in individuals with autism spectrum disorder. Methods: A systematic search of electronic databases and reference lists identified eight studies that met inclusion criteria. Studies were evaluated according to (a) treatment used, (b) participants, (c) experimental design, (d) baseline measures, (e) dependent variables, (f) follow-up measures, (g) reliability and treatment integrity, (h) results and certainty of evidence and (i) implications for treatment. Results: Positive outcomes were reported for the use of massage therapy and vitamin supplements. Aromatherapy was reported to have no effect on sleep. No studies were found that examined other non-traditional treatment approaches, nor did any of the studies provide conclusive evidence. Conclusions: The limited corpus of evidence and the methodological limitations suggests that the efficacy of non-traditional approaches to treatment of sleep problems in individuals with autism is yet to be demonstrated.
Lien vers le texte intégral (Open Access ou abonnement)
5. Merali Z, Presti-Torres J, Mackay JC, Johnstone J, Du L, St-Jean A, Levesque D, Kent P, Schwartsmann G, Roesler R, Schroder N, Anisman H. {{Long-term behavioral effects of neonatal blockade of gastrin-releasing peptide receptors in rats: Similarities to autism spectrum disorders}}. {Behav Brain Res};2014 (Apr 15);263:60-69.
Gastrin releasing peptide, the mammalian counterpart of the amphibian peptide, bombesin, has been increasingly implicated in regulating normal brain function as well as in the pathogenesis of psychiatric and/or neurodevelopmental disorders. We have previously shown that the neonatal blockade of the gastrin-releasing peptide receptor (GRPr) in rats produces long-lasting consequences during central nervous system development that are commonly observed in neurodevelopmental disorders such as autism spectrum disorders. The present investigation assessed in further detail, long-term behavioral effects of neonatal GRPr blockade. During postnatal days 1-10, male Wistar rat pups (n=5-10/litter) were injected (subcutaneously) with the GRPr antagonist, RC-3095 (1mg/kg), or a vehicle (control), twice daily. Following the drug treatment regimen, several behaviors were assessed (starting on postnatal day 14) including specific social behaviors (namely, group huddling characteristics, social interaction, and social approach), restrictive/repetitive and stereotyped behaviors (y-maze, repetitive novel object contact task, observation for stereotypies) and anxiety/fear-related responses (open field, elevated plus maze and contextual fear conditioning). Rats treated neonatally with RC-3095 showed reduced sociability, restrictive interests, motor stereotypies and enhanced learned fear response compared to the controls (vehicle-treated rats). These behavioral abnormalities are consistent with those observed in autism spectrum disorders and provide further evidence that neonatal blockade of GRPr could potentially serve as a useful model to gain a better understanding of the underlying neurodevelopmental disruptions contributing to the expression of autism-relevant phenotypes.
Lien vers le texte intégral (Open Access ou abonnement)
6. Ollington N. {{Comparison of a direct and an indirect approach for the functional assessment of insistence on sameness in a child with autism spectrum disorder and a typically developing child}}. {Dev Neurorehabil};2014 (Apr 11)
Abstract Objective: To compare indirect and direct functional assessment of insistence on sameness associated with autism spectrum disorder (ASD) and typical development. Methods: Parents rated the function of insistence on sameness for a 6-year-old boy with ASD (Peter) and a typically developing 4-year-old boy (Nathan) using the Motivation Assessment Scale (MAS). Ratings were compared to the results of a direct assessment. Results: The results of the assessment procedures were mainly consistent for Peter and suggested that his tendency to insist on sameness was maintained by sensory consequences. The finding of an attention function for Nathan in the play-based assessment was consistent with previous functional assessment studies surrounding typically developing children, but in contrast to the MAS. Conclusion: While the play-based assessment may be more suitable for assessing the high rate insistence on sameness observed in individuals with ASD, the MAS may be more suitable for low rate insistence on sameness.
Lien vers le texte intégral (Open Access ou abonnement)
7. Pankert A, Pankert K, Herpertz-Dahlmann B, Konrad K, Kohls G. {{Responsivity to familiar versus unfamiliar social reward in children with autism}}. {J Neural Transm};2014 (Apr 12)
In autism spectrum disorders (ASD), social motivation theories suggest that the core social communication problems seen in children with ASD arise from diminished responsiveness to social reward. Although clinical and experimental data support these theories, the extent to which the reward deficit in ASD is unique for social rewards remains unclear. With the present investigation, we aimed to provide insight into the degree to which sociality as well as familiarity of reward incentives impact motivated goal-directed behavior in children with ASD. To do so, we directly compared the influence of familiar versus unfamiliar social reward relative to nonsocial, monetary reward in children with ASD relative to age- and IQ-matched typically developing controls (TDC) using a visual and auditory incentive go/nogo task with reward contingencies for successful response inhibitions. We found that children with ASD responded stronger to visual familiar and unfamiliar social reward as well as to nonsocial, monetary reward than TDC. While the present data are at odds with predictions made by social motivation theories, individual variations beyond clinical diagnosis, such as reward exposure across various social settings, help explain the pattern of results. The findings of this study stress the necessity for additional research on intra-individual as well as environmental factors that contribute to social reward responsiveness in individuals with ASD versus other neuropsychiatric disorders such as ADHD or conduct disorder.
Lien vers le texte intégral (Open Access ou abonnement)
8. Vijapura PS, Schofield M, Maneta E, Coffey DB. {{Mania in an adolescent with autism and premenstrual mood variation: a diagnostic and treatment dilemma}}. {J Child Adolesc Psychopharmacol};2014 (Apr);24(3):161-164.
Lien vers le texte intégral (Open Access ou abonnement)
9. Williamson HJ, Perkins EA. {{Family caregivers of adults with intellectual and developmental disabilities: outcomes associated with u.s. Services and supports}}. {Intellect Dev Disabil};2014 (Apr);52(2):147-159.
Abstract Individuals with intellectual and developmental disabilities (IDD) in the U.S. predominantly live with their family caregivers. As care delivery and support systems vary widely globally, consideration of caregiver outcomes specifically in the U.S. context is needed. A systematic literature review was conducted to identify U.S. family caregiver outcomes and their association with existing services and supports for family caregivers of adults with IDD. Twenty-four articles were compiled using the PubMed, Web of Knowledge, PsychInfo, and CINAHL databases. Studies report economic, mental, and physical health outcomes from caregiving roles. The need for comprehensive caregiver assessment is discussed. Understanding and responding to the changing needs of family caregivers is vital to the U.S. disability service system to effectively prioritize formal resources and services.
Lien vers le texte intégral (Open Access ou abonnement)
10. Wohr M. {{Ultrasonic Vocalizations in Shank Mouse Models for Autism Spectrum Disorders: Detailed Spectrographic Analyses and Developmental Profiles}}. {Neurosci Biobehav Rev};2014 (Apr 9)
Autism spectrum disorders (ASD) are a class of neurodevelopmental disorders characterized by persistent deficits in social behavior and communication across multiple contexts, together with repetitive patterns of behavior, interests, or activities. The high concordance rate between monozygotic twins supports a strong genetic component. Among the most promising candidate genes for ASD is the SHANK gene family, including SHANK1, SHANK2 (ProSAP1), and SHANK3 (ProSAP2). SHANK genes are therefore important candidates for modeling ASD in mice and various genetic models were generated within the last few years. As the diagnostic criteria for ASD are purely behaviorally defined, the validity of mouse models for ASD strongly depends on their behavioral phenotype. Behavioral phenotyping is therefore a key component of the current translational approach and requires sensitive behavioral test paradigms with high relevance to each diagnostic symptom category. While behavioral phenotyping assays for social deficits and repetitive patterns of behavior, interests, or activities are well-established, the development of sensitive behavioral test paradigms to assess communication deficits in mice is a daunting challenge. Measuring ultrasonic vocalizations (USV) appears to be a promising strategy. In the first part of the review, an overview on the different types of mouse USV and their communicative function will be provided. The second part is devoted to studies on the emission of USV in Shank mouse models for ASD. Evidence for communication deficits was obtained in Shank1, Shank2, and Shank3 genetic mouse models for ASD, often paralleled by behavioral phenotypes relevant to social deficits seen in ASD.
