1. Ayvazoglu NR, Kozub FM, Butera G, Murray MJ. {{Determinants and challenges in physical activity participation in families with children with high functioning autism spectrum disorders from a family systems perspective}}. {Res Dev Disabil};2015 (Sep 11);47:93-105.
The underlying factors affecting physical activity (PA) participation of children with high-functioning autism spectrum disorders (HFASDs) and their family members were investigated using a mixed method research design. Six families with children with HFASD aged 4 through 13 participated in the study. Findings revealed that levels of moderate to vigorous physical activity (MVPA) in children with HFASD varied between 85min and 405min for seven days. Parents of children with HFASD in this study were inactive (levels of MVPA varied between 6min and 53min) during this period. Qualitative data from parents highlighted many essential issues. Those issues are categorized under three main themes: (a) understanding PA in children with HFASD, (b) living with a child with HFASD, and (c) awareness of autism spectrum disorders (ASD) at school and community settings. Social skills, issues related to bullying, fear of injury to the child, as well as support from family members and lack of understanding of the disability emerged as subthemes extracted from these data.
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2. Canitano R. {{Mood Stabilizers in Children and Adolescents With Autism Spectrum Disorders}}. {Clin Neuropharmacol};2015 (Sep 11)
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders including autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified as to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. All these categories are grouped together in Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, classification under the category of Autism Spectrum Disorders.Behavioral disorders including irritability, attention-deficit/hyperactivity disorder (ADHD) symptoms, and aggression are additional symptoms found in up to 20% of children and adolescents with ASD and require careful evaluation for appropriate treatment. Attention-deficit/hyperactivity disorder is defined by impaired attention, hyperactivity, and impulsivity, whereas ASD is defined by social dysfunction, communicative impairment, and restricted/repetitive behaviors. They should be distinctly evaluated in children and adolescents with ASD and intellectual disability in contrast to individuals without intellectual disability, because significant differences between these conditions exist. Mood disorders are also common in ASD and should be systematically investigated in this population of children and adolescents. Approximately 50% of children and adolescents with ASD receive medication for comorbid behavioral/ADHD and mood symptoms, mostly stimulants, antiepileptics and antipsychotics. Guidelines for the evaluation and treatment including medications for ADHD-like symptoms have recently been provided and should be carefully considered. Antiepileptic drugs are commonly used in ASDs with epilepsy, because seizures are associated with ASD in 10% to 30% of young patients, and as mood stabilizers. Lithium is another option for children and adolescents with ASD who present with symptoms of a mood disorder, such as elevated moods/euphoria, mania, and paranoia, whether accompanied or not by irritability. Experimental treatments are under investigation and currently include arbaclofen, a gamma-aminobutyric acid agent, and N-acetylcisteine, a glutamate agent.
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3. Fortuna RJ, Robinson L, Smith TH, Meccarello J, Bullen B, Nobis K, Davidson PW. {{Health Conditions and Functional Status in Adults with Autism: A Cross-Sectional Evaluation}}. {J Gen Intern Med};2015 (Sep 11)
BACKGROUND: Children and adolescents with autism spectrum disorder (ASD) have many well-known health concerns, yet health conditions in adults with ASD remain poorly defined. OBJECTIVE: To examine health conditions and functional status in adults with ASD and identify factors associated with health and functional status across age cohorts. DESIGN AND SUBJECTS: We collected cross-sectional data from 255 adult subjects aged 18 to 71 years with ASD using the Rochester Health Status Survey IV (RHSS-IV), a 58-item validated survey instrument. We used the National Health and Nutritional Examination Survey and National Health Interview Survey to provide comparative prevalence rates in the general population. RESULTS: Compared to the general population, young adults aged 18-29 with ASD had a substantially higher prevalence of seizure disorder (11.2 % vs. 1.4 %; p = 0.002), depression (16.4 % vs. 6.4 %; p = 0.007), hypertension (12.9 % vs. 6.3 %; p = 0.05), and allergies (39.7 % vs. 8.4 %; p < 0.001). In contrast, young adults with ASD had considerably lower rates of sexually transmitted illness (STI) (0.9 % vs. 4.3 %; p = 0.03), tobacco use (5.2 % vs. 31.9 %; p < 0.001), and alcohol misuse (0.9 % vs. 11.9 %; p < 0.001). Adults 40 and over with ASD also had higher rates of seizure disorder (29.2 % vs. 1.7 %; p < 0.001), lower tobacco use (2.8 % vs. 24.5 %; p < 0.001), and lower alcohol misuse (1.4 % vs. 18.2 %; p < 0.001) compared to the general population. Amongst the 55 % of participants with a documented IQ score, 91 % had an intellectual disability (IQ < 70). Within the cohort aged 40 years old and older, only 54.2 % were independent with eating, 43.0 % independent with dressing, and 43.1 % independent with bathing. Lower IQ and depression were associated with lower functional status. CONCLUSIONS: Adults with ASD have a high prevalence of seizure disorders and depression, but low rates of STIs, tobacco use, and alcohol misuse. Within our cohort, the majority of older adults with ASD required some assistance with activities of daily living.
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4. Tastet J, Decalonne L, Marouillat S, Malvy J, Thepault RA, Toutain A, Paubel A, Tabagh R, Benedetti H, Laumonnier F, Barthelemy C, Bonnet-Brilhault F, Andres CR, Vourc’h P. {{Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism}}. {Psychiatr Genet};2015 (Sep 11)
Many genes are now thought to confer susceptibility to autism. Despite the fact that this neuropsychiatric disease appears to be related to several different causes, common cellular and molecular pathways have emerged and point to synaptic dysfunction or cellular growth. Several studies have indicated the importance of the ubiquitin pathway in synaptic function and the aetiology of autism. Here, we focused on the ring finger protein 135 (RNF135) gene, encoding an E3 ubiquitin ligase expressed in the cortex and cerebellum, and located in the NF1 gene locus in 17q11.2, a region linked to autism. We carried out a genetic analysis of the coding sequence of RFN135 in a French cohort of patients with autism and observed a significantly increased frequency of genotypes carrying the rare allele of the rs111902263 (p.R115K) missense variant in patients (P=0.0019, odds ratio: 4.23, 95% confidence interval: 1.87-9.57). Particularly, three unrelated patients showed a homozygous genotype for K115, a situation not observed in the 1812 control individuals. Further cellular and molecular studies are required to elucidate the role of this gene and the variant K115 in brain development and neuronal function.
