1. Dijkhuis RR, Ziermans TB, Van Rijn S, Staal WG, Swaab H. {{Self-regulation and quality of life in high-functioning young adults with autism}}. {Autism}. 2016.
BACKGROUND: Autism is generally associated with poor functional outcome but little is known about predictors of quality of life, especially during early adulthood. This study was conducted to assess subjective quality of life during early adulthood in high-functioning autism spectrum disorder and its relation with self-regulating abilities. Individuals with high-functioning autism spectrum disorder who progressed into post-secondary higher education (N = 75) were compared to a typical peer control group (N = 28) based on behavioral self-report questionnaires. The results indicated that individuals with high-functioning autism spectrum disorder reported significantly lower subjective quality of life than typical controls (p < 0.001, effect size (d) = 1.84). In addition, individuals with high-functioning autism spectrum disorder reported more problems with emotion processing (p < 0.05, effect size (d) = 0.79) and daily executive functioning (p < 0.001, effect size (d) = 1.29) than controls. A higher level of executive functioning problems was related to lower quality of life in the high-functioning autism spectrum disorder group, but no significant relation between level of emotion processing and subjective quality of life became apparent in the regression analysis. Our findings show that even in high-functioning young adults with autism, executive functioning, emotion processing, and subjective quality of life are low compared to typically developing peers. Furthermore, these results emphasize the importance of targeting executive functioning problems in individuals with autism to improve subjective quality of life. Lien vers le texte intégral (Open Access ou abonnement)
2. Fernandes LC, Gillberg CI, Cederlund M, Hagberg B, Gillberg C, Billstedt E. {{Aspects of Sexuality in Adolescents and Adults Diagnosed with Autism Spectrum Disorders in Childhood}}. {J Autism Dev Disord}. 2016.
The literature concerning sexuality in autism spectrum disorders (ASDs) is limited regarding inappropriate sexual behaviours and paraphilias and its relation to age, verbal ability, symptom severity, intellectual ability, or adaptive functioning. A cohort of 184 adolescents and young adults (ages 15-39 years) with ASD diagnosed in childhood, including both low and high functioning individuals, was examined. The large majority were found to have a sexual interest and showed interest towards the opposite sex. Inappropriate sexual behaviours and paraphilias were reported for about a fourth of the individuals. No relationships were found between inappropriate sexual behaviours and any of the background variables listed above. However, associations were found between paraphilias and ASD symptom severity, intellectual ability, and adaptive functioning.
Lien vers le texte intégral (Open Access ou abonnement)
3. Lopata C, Donnelly JP, Jordan AK, Thomeer ML, McDonald CA, Rodgers JD. {{Brief Report: Parent-Teacher Discrepancies on the Developmental Social Disorders Scale (BASC-2) in the Assessment of High-Functioning Children with ASD}}. {J Autism Dev Disord}. 2016.
This study compared parent and teacher ratings of ASD-related symptoms of 120 high-functioning children, ages 6-12 years with ASD (HFASD) using the Developmental Social Disorders (DSD) scale of the BASC-2. DSD ratings (parent and teacher) were significantly higher than normative estimates. The cross-informant comparison was significantly higher for parents (vs. teachers), and correlations (ICC and Pearson) between the informant groups were significant (but low in magnitude). Agreement among parents and teachers accurately placed 81 % of cases above the at-risk cutpoint for symptoms of ASD, and agreement was highest in the at-risk range of perceived symptoms. Additional analyses indicated a significant difference in the trend across the parent-teacher discrepancies, and no significant moderators of the discrepancies. Implications for assessment are provided.
Lien vers le texte intégral (Open Access ou abonnement)
4. Mandell DS, Barry CL, Marcus SC, Xie M, Shea K, Mullan K, Epstein AJ. {{Effects of Autism Spectrum Disorder Insurance Mandates on the Treated Prevalence of Autism Spectrum Disorder}}. {JAMA Pediatr}. 2016.
Importance: Most states have passed insurance mandates requiring commercial health plans to cover services for children with autism spectrum disorder (ASD). Insurers have expressed concerns that these mandates will increase the number of children diagnosed with ASD (treated prevalence) and therefore increase costs associated with their care. To our knowledge, no published studies have addressed this question. Objective: To examine whether implementing ASD insurance mandates increases the number of commercially insured children diagnosed with ASD. Design, Setting, and Participants: A difference-in-differences study was performed using inpatient and outpatient health insurance claims for children 21 years or younger covered by 3 of the largest insurers in the United States-United HealthCare, Aetna, and Humana-from January 1, 2008, through December 31, 2012, made available through the Health Care Cost Institute. Data analysis was conducted from March 15 to August 11, 2015. Exposures: Implementation of an ASD insurance mandate in a child’s state of residence. Main Outcomes and Measures: The treated prevalence of ASD, measured as a binary indicator of whether a given child in a given calendar month had at least 1 health care service claim associated with a diagnosis of ASD. Results: The adjusted treated prevalence among 1046850 eligible children (575299 male [55.0%]) in states with ASD insurance mandates was 1.8 per 1000 and 1.6 per 1000 among children in states without such a mandate (P = .006). The mean increase in treated prevalence attributable to the mandates was 0.21 per 1000 children during the study period (95% CI, 0.11-0.30; P < .001). Mandates in place longer had a larger effect on treated prevalence. The mean increase in treated prevalence of ASD attributable to the mandate was 0.17 per 1000 children (95% CI, 0.09-0.24; P < .001) in the first year following implementation, 0.27 per 1000 children (95% CI, 0.13-0.42; P < .001) in the second year, and 0.29 per 1000 children (95% CI, 0.15-0.42; P < .001) 3 years or more following implementation. Conclusions and Relevance: Implementing state ASD insurance mandates resulted in increases in the number of children diagnosed with ASD; these numbers increased each year after implementation. Even 3 years or more after implementation, however, treated prevalence of ASD was much lower than community prevalence estimates. This finding may allay concerns that mandates will substantially increase insurance costs, but it suggests that many commercially insured children with ASD remain undiagnosed or are being treated only through publicly funded systems. Lien vers le texte intégral (Open Access ou abonnement)
5. Stadnick N, Chlebowski C, Baker-Ericzen M, Dyson M, Garland A, Brookman-Frazee L. {{Psychiatric comorbidity in autism spectrum disorder: Correspondence between mental health clinician report and structured parent interview}}. {Autism}. 2016.
Publicly funded mental health services are critical in caring for children with autism spectrum disorder. Accurate identification of psychiatric comorbidity is necessary for effective mental health treatment. Little is known about psychiatric diagnosis for this population in routine mental health care. This study (1) examined correspondence between psychiatric diagnoses reported by mental health clinicians and those derived from a structured diagnostic interview and (2) identified predictors of agreement between clinician-reported and diagnostic interview-derived diagnoses in a sample of 197 children aged 4-14 years with autism spectrum disorder receiving mental health services. Data were drawn from a randomized effectiveness trial conducted in publicly funded mental health services. Non-autism spectrum disorder diagnoses were assessed using an adapted version of the Mini-International Neuropsychiatric Interview, parent version. Cohen’s kappa was calculated to examine agreement between Mini-International Neuropsychiatric Interview, parent version and clinician-reported diagnoses of comorbid conditions. Children met criteria for an average of 2.83 (standard deviation = 1.92) Mini-International Neuropsychiatric Interview, parent version diagnoses. Agreement was poor across all diagnostic categories (kappa values: 0.06-0.18). Logistic regression identified child gender and clinical characteristics as significant predictors of agreement for specific diagnoses. Results underscore the need for training mental health clinicians in targeted assessment of specific psychiatric disorders and prioritizing treatment development and testing for specific diagnoses to improve care for children with autism spectrum disorder served in publicly funded mental health settings.
Lien vers le texte intégral (Open Access ou abonnement)
6. van der Plas E, Dupuis A, Arnold P, Crosbie J, Schachar R. {{Association of Autism Spectrum Disorder with Obsessive-Compulsive and Attention-Deficit/Hyperactivity Traits and Response Inhibition in a Community Sample}}. {J Autism Dev Disord}. 2016.
We examined co-occurrence of autism spectrum disorder (ASD) with (traits of) attention-deficit/hyperactivity (ADHD), obsessive-compulsive (OCD) and inhibition deficits in a community sample (n = 16,676) and tested whether having a sibling with ASD manifested in increased features of ADHD, OCD or inhibition deficits. Individuals with ASD had increased ADHD and OCD traits compared with individuals without ASD. Individuals with a sibling with ASD exhibited more ADHD traits than did individuals whose sibling did not have ASD. The « sibling effect » on manifestation of ADHD traits was observed in individuals with and without ASD. Having a sibling with ASD did not affect OCD traits. Inhibition was impaired in individuals with ASD who had a sibling with ASD only.
Lien vers le texte intégral (Open Access ou abonnement)
7. Yang WY, He F, Strack RL, Oh SY, Frazer M, Jaffrey SR, Todd PK, Disney MD. {{Small Molecule Recognition and Tools to Study Modulation of r(CGG)exp in Fragile X-Associated Tremor Ataxia Syndrome}}. {ACS Chem Biol}. 2016.
RNA transcripts containing expanded nucleotide repeats cause many incurable diseases via various mechanisms. One such disorder, fragile X-associated tremor ataxia syndrome (FXTAS), is caused by a noncoding r(CGG) repeat expansion (r(CGG)exp) that (i) sequesters proteins involved in RNA metabolism in nuclear foci, causing dysregulation of alternative pre-mRNA splicing, and (ii) undergoes repeat associated non-ATG translation (RANT), which produces toxic homopolymeric proteins without using a start codon. Here, we describe the design of two small molecules that inhibit both modes of toxicity and the implementation of various tools to study perturbation of these cellular events. Competitive Chemical Cross Linking and Isolation by Pull Down (C-Chem-CLIP) established that compounds bind r(CGG)exp and defined small molecule occupancy of r(CGG)exp in cells, the first approach to do so. Using an RNA GFP mimic, r(CGG)exp-Spinach2, we observe that our optimal designed compound binds r(CGG)exp and affects RNA localization by disrupting preformed RNA foci. These events correlate with an improvement of pre-mRNA splicing defects caused by RNA gain of function. In addition, the compounds reduced levels of toxic homopolymeric proteins formed via RANT. Polysome profiling studies showed that small molecules decreased loading of polysomes onto r(CGG)exp, explaining decreased translation.
