1. Bradshaw J, Steiner AM, Gengoux G, Koegel LK. {{Feasibility and Effectiveness of Very Early Intervention for Infants At-Risk for Autism Spectrum Disorder: A Systematic Review}}. {J Autism Dev Disord};2014 (Sep 14)
Early detection methods for autism spectrum disorder (ASD) in infancy are rapidly advancing, yet the development of interventions for infants under two years with or at-risk for ASD remains limited. In order to guide research and practice, this paper systematically reviewed studies investigating interventions for infants under 24 months with or at-risk for ASD. Nine studies were identified and evaluated for: (a) participants, (b) intervention approach (c) experimental design, and (d) outcomes. Studies that collected parent measures reported positive findings for parent acceptability, satisfaction, and improvement in parent implementation of treatment. Infant gains in social-communicative and developmental skills were observed following intervention in most of the reviewed studies, while comparisons with treatment-as-usual control groups elucidate the need for further research. These studies highlight the feasibility of very early intervention and provide preliminary evidence that intervention for at-risk infants may be beneficial for infants and parents.
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2. Djukic A, Rose SA, Jankowski JJ, Feldman JF. {{Rett Syndrome: Recognition of Facial Expression and Its Relation to Scanning Patterns}}. {Pediatr Neurol};2014 (Jul 23)
BACKGROUND: Rett syndrome is a severely disabling neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. Very little is known about its cognitive phenotype and nothing about recognition of emotional expression, a key factor for social interaction and communication. Using eye tracking technology, a technique uniquely suited for studying cognition in this disorder, we examined this ability here. METHODS: Rett syndrome female patients (n = 37; 2-31 years) and a typically developing age- and gender-matched comparison group (n = 34; 2-30 years) were assessed on recognition of three basic emotions (happy, sad, and fear) using six visual paired-comparison problems. Each problem consisted of a 10-second familiarization, in which two identical faces posing one emotion were presented, followed by a 10-second test, in which the familiar emotion was paired with a novel one posed by the same model. Recognition was inferred from preferential looking to the novel target on test. During familiarization, attention was measured by total looking time, number and/or length of fixations, and gaze dispersion across three key facial features (eyes, nose, and mouth). RESULTS: Individuals with Rett syndrome had difficulty recognizing most emotional expressions, unlike the typically developing comparison group. Also, their scanpaths were atypical-less looking, fewer and/or longer fixations, and less time devoted to all facial features (48% vs 72%), particularly the mouth. Significant correlations between looking to critical features and recognition underscored the importance of scanning. CONCLUSIONS: The results suggest that individuals with Rett syndrome have difficulty reading emotional expressions and that these problems are linked to atypicalities in scanning.
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3. Harrop C, Shire S, Gulsrud A, Chang YC, Ishijima E, Lawton K, Kasari C. {{Does Gender Influence Core Deficits in ASD? An Investigation into Social-Communication and Play of Girls and Boys with ASD}}. {J Autism Dev Disord};2014 (Sep 13)
Due to the predominance of boys diagnosed with autism spectrum disorders (ASD), girls are rarely studied independently. Research specifically focusing on play and social-communication in girls with ASD is extremely varied. We were interested in whether girls with ASD demonstrated equivalent social-communication and play skills in early childhood relative to boys, using two measures focused on the specific quantification of these variables. We also examined whether the associations between developmental variables and social-communication and play differed by gender. Forty girls with ASD were individually matched to 40 boys based on ASD severity. Our results suggest that girls and boys were more similar than different, however they also raise questions about the potential differential associations between development and requesting ability in girls and boys with ASD.
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4. Pellise F, Vila-Casademunt A, Ferrer M, Domingo-Sabat M, Bago J, Perez-Grueso FJ, Alanay A, Mannion AF, Acaroglu E. {{Impact on health related quality of life of adult spinal deformity (ASD) compared with other chronic conditions}}. {Eur Spine J};2014 (Sep 14)
PURPOSE: Medical and health policy providers should be aware of the impact of adult spinal deformity (ASD) on health-related quality of life (HRQL). The purpose of this study was to compare the relative burden of four chronic conditions with that of ASD. METHODS: The International Quality of Life Assessment project gathered data from 24,936 people and published the SF-36 scores of patients with self-reported arthritis, chronic lung disease, diabetes and congestive heart failure from 8 industrialized countries (3 continents) Alonso et al. (Qual Life Res Int J Qual Life Asp Treat Care Rehabil 13:283-298, 2004). We compared these with the SF-36 baseline data of consecutive patients with ASD enrolled in a prospective multicentre international database with the following inclusion criteria: age >18 years and scoliosis >20 degrees , sagittal vertical axis >5 cm, pelvic tilt >25 degrees or thoracic kyphosis >60 degrees . Four ASD groups were considered: all ASD patients, surgical candidates (preop HRQL scores), and non-surgical candidates with and without previous surgery. Adjusted estimates of the impact of chronic disease were calculated using separate multivariate linear regression models. Individuals without chronic conditions were used as the reference group. Coefficients for each chronic condition and ASD represent the difference compared with this healthy group. RESULTS: 766 patients (mean age 45.8 years) met the inclusion criteria for ASD. The scores on all SF-36 domains were lower in ASD patients than in any other chronic condition. Differences between ASD and the other chronic conditions were always greater than the reported minimal clinically important differences. When compared with individuals reporting no medical conditions, SF-36 scores from the population with self-reported chronic conditions ranged from -2.5 to -14.1. Comparable scores for patients with ASD ranged from -10.9 to -45.0. Physical function, role physical and pain domains showed the worst scores. Surgical candidates with ASD displayed the worst HRQL scores (-17.4 to -45.0) and patients previously operated the best (-10.9 to -33.3); however, even the latter remained worse than any scores for the other self-reported chronic conditions. CONCLUSIONS: The global burden of ASD was huge compared with other self-reported chronic conditions in the general population of eight industrialized countries. The impact of ASD on HRQL warrants the same research and health policy attention as other important chronic diseases.
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5. Takara K, Kondo T. {{Autism spectrum disorder among first-visit depressed adult patients: diagnostic clues from backgrounds and past history}}. {Gen Hosp Psychiatry};2014 (Aug 16)
OBJECTIVE: The present study aimed to extract discriminating indicators for diagnosis of autism spectrum disorder (ASD) from personal backgrounds and past history among depressed adult outpatients. METHODS: Subjects were 430 depressed adults, consisting of patients with ASD (n=70) and those without ASD (n=360). Group comparison and discriminant analysis was conducted with regard to backgrounds (age, gender, education, marriage, living alone, physical diseases and family history of mood disorders) and past history (school non-attendance, bullied experience, psychotic-like experiences, conduct problems, suicide-related behaviors and interpersonal friction). RESULTS: Six discriminating indicators (interpersonal friction, bullied experience, psychotic-like experiences, age under 32 years, school non-attendance and university educational level) were identified by stepwise discriminant analysis (P<.001). Absence of the first 4 indicators almost excluded ASD diagnosis with the highest negative predictive value (98%) and the least negative likelihood ratio (0.11) whereas one or more out of these 4 indicators showed low positive predictive value (32%) despite high sensitivity (93%). CONCLUSIONS: The abovementioned 4 indicators may be useful clues to cover possible ASD subjects among depressed adults although further detailed ASD focused diagnostic procedure is absolutely necessary to specify true ASD subjects. Meanwhile, absence of these 4 indicators is probably helpful to rule out ASD diagnosis.
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6. Van Schalkwyk GI, Peluso F, Qayyum Z, McPartland JC, Volkmar FR. {{Varieties of Misdiagnosis in ASD: An Illustrative Case Series}}. {J Autism Dev Disord};2014 (Sep 14)
The relationship between autism spectrum disorders (ASD) and psychotic disorders (PD) is a focus of continued interest. There are substantial conceptual and clinical difficulties associated with diagnosing comorbid PD in individuals who have ASD. In this case series, we report on five cases where adolescents with previously diagnosed ASD were also diagnosed as psychotic. In each case, we found that these patients’ ‘psychotic’ symptoms could be better understood as a part of their underlying ASD diagnosis, with significant implications for treatment, prognosis, and access to services. This misdiagnosis likely represents a combination of adult psychiatrists being relatively inexperienced with this population, and the system of care requiring providers to apply diagnostic labels to justify inpatient hospitalization.
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7. Wong K, Leonard H, Jacoby P, Ellaway C, Downs J. {{The trajectories of sleep disturbances in Rett syndrome}}. {J Sleep Res};2014 (Sep 14)
Rett syndrome is a rare neurodevelopmental disorder usually affecting females, and is associated with a mutation in the MECP2 gene. Sleep problems occur commonly and we investigated the trajectories and influences of age, mutation and treatments. Data were collected at six time points over 12 years from 320 families registered with the Australian Rett Syndrome Database. Regression analysis was used to investigate relationships between sleep disturbances, age, mutation type and use of treatment, and latent class growth analysis was performed to identify sleep problem phenotypes and model the effect of mutation type. The age range of subjects was 2.0-35.8 years. The study showed that sleep problems occurred in more than 80% of individuals and the prevalence decreased with age. Night laughing and night screaming occurred in 77 and 49%, respectively, when younger. Those with a large deletion had a higher prevalence of night laughing, which often occurred frequently. Treatment was associated with a 1.7% reduction in risk of further sleep problems. High and low baseline prevalence groups were identified. Approximately three-quarters of girls and women with sleep disturbances were in the high baseline group and problems persisted into adulthood. Conversely, 57% with night laughing and 42% with night screaming in the high baseline group exhibited mild improvement over time. Mutation type was not found to be a significant predictor of group membership. In conclusion, the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and genotype. Treatment was not associated with improvement in sleep problems.
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8. Woodbury-Smith M. {{Editorial: ASD and Illegal Behaviors}}. {J Autism Dev Disord};2014 (Sep 13)
The last decade has seen significant advances in our understanding of autism spectrum disorder, from both biological and clinical perspectives. Outcome runs the gamut from complete independence to relative dependence. Of particular interest, among those described with poor outcome are a small number of individuals, male and female, who have engaged in unlawful behavior. This special issue of the Journal of Autism and Developmental Disorders presents a number of papers providing further insight into this issue.
