1. Barger BD, Campbell JM, McDonough JD. {{Prevalence and Onset of Regression within Autism Spectrum Disorders: A Meta-analytic Review}}. {J Autism Dev Disord};2012 (Aug 2)
Rates and onset of regression were meta-analyzed from 85 articles representing 29,035 participants with autism spectrum disorders (ASD). Overall prevalence rate for regression was 32.1, 95 % CI [29.5, 34.8] occurring at mean of 1.78 years, 95 % CI [1.67, 1.89]. Regression prevalence rates differed according to four types of regression: language regression, 24.9 %; language/social regression, 38.1 %; mixed regression, 32.5 %; and unspecified regression, 39.1 %. Regression prevalence also differed according to sampling method: population-based prevalence was 21.8 %, clinic-based prevalence was 33.6 %, and parent survey-based prevalence was 40.8 %. Risk of regression was equal for males and females, but higher for individuals diagnosed with autism versus another ASD. Later age of regression onset was predicted by older age of child.
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2. Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS. {{Mutations of ANK3 identified by exome sequencing are associated with autism ausceptibility}}. {Hum Mutat};2012 (Aug 3)
Autism spectrum disorders (ASDs) are common neurodevelopmental disorders with a strong genetic etiology. However, due to the extreme genetic heterogeneity of ASDs, traditional approaches for gene discovery are challenging. Next-generation sequencing technologies offer an opportunity to accelerate the identification of the genetic causes of ASDs. Here, we report the results of whole-exome sequence in a cohort of 20 ASD patients. By extensive bioinformatic analysis, we identified novel mutations in seven genes that are implicated in synaptic function and neurodevelopment. After sequencing an additional 47 ASD samples, we identified three different missense mutations in ANK3 in four unrelated ASD patients, one of which, c.4705T>G (p.S1569A), is a recurrent de novo mutation. Given the fact that ANK3 has been shown to strongly associate with schizophrenia and bipolar disorder, our findings support an association between ANK3 mutations and ASD susceptibility and imply a shared molecular pathophysiology between ASDs and other neuropsychiatric disorders.
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3. Crippa A, Forti S, Perego P, Molteni M. {{Eye-Hand Coordination in Children with High Functioning Autism and Asperger’s Disorder Using a Gap-Overlap Paradigm}}. {J Autism Dev Disord};2012 (Aug 3)
We investigated eye-hand coordination in children with autism spectrum disorders (ASD) in comparison with age-matched normally developing peers. The eye-hand correlation was measured by putting fixation latencies in relation with pointing and key pressing responses in visual detection tasks where a gap-overlap paradigm was used and compared to fixation latencies in absence of manual response. ASD patients showed less efficient eye-hand coordination, which was particularly evident when pointing towards a target was being fixated. The data of normally developing participants confirmed that manual gap effects are more likely for more complex hand movements. An important discrepancy was discovered in participants with ASD: beside normal eye gap effects, they showed no concurrent hand gap effects when pointing to targets. This result has been interpreted as a further sign of inefficient eye-hand coordination in this patient population.
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4. Griffith GM, Totsika V, Nash S, Jones RS, Hastings RP. {{« We are all there silently coping. » The hidden experiences of parents of adults with Asperger syndrome*}}. {J Intellect Dev Disabil};2012 (Aug 2)
Background The experiences of older parents of adults with Asperger syndrome have not been explored in the research literature. Method Four families who had middle-aged offspring with Asperger syndrome were interviewed (3 mothers and 1 couple), and the interviews were analysed using interpretative phenomenological analysis (IPA). Results Six themes emerged from the analysis: (a) providers of « hidden » support, (b) role of advocate, (c) social isolation, (d) intrafamilial relationships, (e) support for parents, and (f) future concerns. Conclusions The findings of this study offer insight into the experience of parents of adult sons with Asperger syndrome. Implications for future support interventions and research are suggested.
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5. Heuer LS, Rose M, Ashwood P, Van de Water J. {{Decreased levels of total immunoglobulin in children with autism are not a result of B cell dysfunction}}. {J Neuroimmunol};2012 (Jul 30)
Autism spectrum disorders are a heterogeneous group of behaviorally defined disorders having complex etiologies. We previously reported a direct correlation between lower plasma levels of the immunoglobulins (Ig) IgG and IgM and increased severity of behavioral symptoms in children with autism. Our current objective was to determine if these reduced plasma levels of IgG and IgM are the result of defective B cell development, activation, or function. Results suggest no differences in the B cell parameters measured, indicating that decreased Ig in autism is not a result of B cell dysfunction and other immune cells might be involved.
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6. Morgan JP, Minihan PM, Stark PC, Finkelman MD, Yantsides KE, Park A, Nobles CJ, Tao W, Must A. {{The oral health status of 4,732 adults with intellectual and developmental disabilities}}. {J Am Dent Assoc};2012 (Aug);143(8):838-846.
BACKGROUND: Two reports by the U.S. surgeon general noted the disproportionate impact of oral disease on and lack of oral health information regarding people with disabilities. METHODS: In this retrospective study, the authors used clinical and demographic data (from April 1, 2009, through March 31, 2010) from electronic dental records of 4,732 adults with intellectual and developmental disabilities (IDDs) who were receiving dental care through a state-supported system of dental clinics. The authors used these data to investigate the oral health status of, and associated risk factors for, adults with IDD. RESULTS: The prevalence of untreated caries in the study population was 32.2 percent, of periodontitis was 80.3 percent and of edentulism was 10.9 percent. The mean (standard deviation) numbers of decayed teeth; missing teeth; and decayed, missing and filled teeth were 1.0 (2.2), 6.7 (7.0) and 13.9 (7.7), respectively. CONCLUSIONS: Management of oral health presents significant challenges in adults with IDD. Age, ability to cooperate with dental treatment and type of residence are important considerations in identifying preventive strategies. CLINICAL IMPLICATIONS: The study population demonstrated a high burden of dental disease. Further research is required to identify effective interventions to improve oral health in adults with IDD.
7. Van Deusen TC. {{Developmental disabilities from childhood to adulthood: what works for psychiatrists in community and institutional settings}}. {Psychiatr Serv};2012 (Aug 1);63(8):839-840.
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8. Williams DL, Goldstein G, Minshew NJ. {{The Modality Shift Experiment in Adults and Children with High Functioning Autism}}. {J Autism Dev Disord};2012 (Aug 3)
This study used the modality shift experiment, a relatively simple reaction time measure to visual and auditory stimuli, to examine attentional shifting within and across modalities in 33 children and 42 adults with high-functioning autism as compared to matched numbers of age- and ability-matched typical controls. An exaggerated « modality shift effect » relative to the TD children occurred for the children with autism in conditions involving the reaction time when shifting from sound to light but not from light to sound. No exaggerated MSE was found for the adults with autism; rather, their responses were characterized by a generalized slowness relative to the adults with TD. These results suggest a lag in maturational development in autism in basic information processing mechanisms.