1. Downs J, Stahlhut M, Wong K, Syhler B, Bisgaard AM, Jacoby P, Leonard H. {{Validating the Rett Syndrome Gross Motor Scale}}. {PLoS One};2016;11(1):e0147555.
Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor abilities supplemented with parent report data was collected for 255 girls and women registered with the Australian Rett Syndrome Database, and the factor structure and relationships between motor scores, age and genotype were investigated. Clinical assessment scores for 38 girls and women with Rett syndrome who attended the Danish Center for Rett Syndrome were used to assess consistency of measurement. Principal components analysis enabled the calculation of three factor scores: Sitting, Standing and Walking, and Challenge. Motor scores were poorer with increasing age and those with the p.Arg133Cys, p.Arg294* or p.Arg306Cys mutation achieved higher scores than those with a large deletion. The repeatability of clinical assessment was excellent (intraclass correlation coefficient for total score 0.99, 95% CI 0.93-0.98). The standard error of measurement for the total score was 2 points and we would be 95% confident that a change 4 points in the 45-point scale would be greater than within-subject measurement error. The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials.
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2. Gorman K, Olson L, Hill AP, Lunsford R, Heeman PA, van Santen JP. {{Uh and um in children with autism spectrum disorders or language impairment}}. {Autism Res};2016 (Jan 22)
Atypical pragmatic language is often present in individuals with autism spectrum disorders (ASD), along with delays or deficits in structural language. This study investigated the use of the « fillers » uh and um by children ages 4-8 during the autism diagnostic observation schedule. Fillers reflect speakers’ difficulties with planning and delivering speech, but they also serve communicative purposes, such as negotiating control of the floor or conveying uncertainty. We hypothesized that children with ASD would use different patterns of fillers compared to peers with typical development or with specific language impairment (SLI), reflecting differences in social ability and communicative intent. Regression analyses revealed that children in the ASD group were much less likely to use um than children in the other two groups. Filler use is an easy-to-quantify feature of behavior that, in concert with other observations, may help to distinguish ASD from SLI. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Hagmann CE, Wyble B, Shea N, LeBlanc M, Kates WR, Russo N. {{Children with Autism Detect Targets at Very Rapid Presentation Rates with Similar Accuracy as Adults}}. {J Autism Dev Disord};2016 (Jan 22)
Enhanced perception may allow for visual search superiority by individuals with Autism Spectrum Disorder (ASD), but does it occur over time? We tested high-functioning children with ASD, typically developing (TD) children, and TD adults in two tasks at three presentation rates (50, 83.3, and 116.7 ms/item) using rapid serial visual presentation. In the Color task, participants detected a purple target letter amongst black letter distractors. In the Category task, participants detected a letter amongst number distractors. Slower rates resulted in higher accuracy. Children with ASD were more accurate than TD children and similar to adults at the fastest rate when detecting color-marked targets, indicating atypical neurodevelopment in ASD may cause generalized perceptual enhancement relative to typically developing peers.
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4. Julien HM, Reichle J. {{A Comparison of High and Low Dosages of a Component of Milieu Teaching Strategies for Two Preschool-Age Learners With Autism Spectrum Disorder}}. {Lang Speech Hear Serv Sch};2016 (Jan 22):1-12.
Purpose: The intersection of treatment intensity and communication intervention is an emerging area of investigation. Milieu teaching (MT) approaches for teaching communication skills to children with autism spectrum disorder (ASD) have a substantial evidence base (see Goldstein, 2002). However, a relatively small percentage (37.8%) of MT studies have fully detailed the parameters that are required to determine treatment intensity (Parker-McGowan et al., 2014). This study compared the effect of two dosages of the modeling component of milieu teaching on acquisition and maintenance of new vocabulary for two preschoolers with ASD. Method: Low- and high-dosage conditions were compared within an adapted alternating treatments design. Participants were two preschool-age children with ASD. Results: Results suggested a functional relationship between dose of MT models and acquisition of vocabulary items. For 1 participant, a high-dose application yielded more efficient acquisition. For the second participant, a low-dose application yielded more efficient acquisition. Conclusion: The results of this study highlight the influence of individual differences in ostensibly similar persons and response to intervention. The need for better quantifying dosage parameters and examining the relationship between dosage and intervention approaches for preschool-age learners with ASD is discussed.
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5. Wilson CE, Murphy CM, McAlonan G, Robertson DM, Spain D, Hayward H, Woodhouse E, Deeley PQ, Gillan N, Ohlsen JC, Zinkstok J, Stoencheva V, Faulkner J, Yildiran H, Bell V, Hammond N, Craig MC, Murphy DG. {{Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?}}. {Autism};2016 (Jan 22)
It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered.
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6. Yaari M, Yitzhak N, Harel A, Friedlander E, Bar-Oz B, Eventov-Friedman S, Mankuta D, Gamliel I, Yirmiya N. {{Stability of early risk assessment for autism spectrum disorder in preterm infants}}. {Autism};2016 (Jan 22)
Stability and change in early autism spectrum disorder risk were examined in a cohort of 99 preterm infants (34 weeks of gestation) using the Autism Observation Scale for Infants at 8 and 12 months and the Autism Diagnostic Observation Schedule-Toddler Module at 18 months. A total of 21 infants were identified at risk by the Autism Observation Scale for Infants at 8 months, and 9 were identified at risk at 12 months, including 4 children who were not previously identified. At 18 months, eight children were identified at risk for autism spectrum disorder using the Autism Diagnostic Observation Schedule-Toddler Module, only half of whom had been identified using the original Autism Observation Scale for Infants cutoffs. Results are discussed in relation to early trajectories of autism spectrum disorder risk among preterm infants as well as identifying social-communication deficiencies associated with the early preterm behavioral phenotype.
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7. Zhang Y, Hodgson NW, Trivedi MS, Abdolmaleky HM, Fournier M, Cuenod M, Do KQ, Deth RC. {{Decreased Brain Levels of Vitamin B12 in Aging, Autism and Schizophrenia}}. {PLoS One};2016;11(1):e0146797.
Many studies indicate a crucial role for the vitamin B12 and folate-dependent enzyme methionine synthase (MS) in brain development and function, but vitamin B12 status in the brain across the lifespan has not been previously investigated. Vitamin B12 (cobalamin, Cbl) exists in multiple forms, including methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), serving as cofactors for MS and methylmalonylCoA mutase, respectively. We measured levels of five Cbl species in postmortem human frontal cortex of 43 control subjects, from 19 weeks of fetal development through 80 years of age, and 12 autistic and 9 schizophrenic subjects. Total Cbl was significantly lower in older control subjects (> 60 yrs of age), primarily reflecting a >10-fold age-dependent decline in the level of MeCbl. Levels of inactive cyanocobalamin (CNCbl) were remarkably higher in fetal brain samples. In both autistic and schizophrenic subjects MeCbl and AdoCbl levels were more than 3-fold lower than age-matched controls. In autistic subjects lower MeCbl was associated with decreased MS activity and elevated levels of its substrate homocysteine (HCY). Low levels of the antioxidant glutathione (GSH) have been linked to both autism and schizophrenia, and both total Cbl and MeCbl levels were decreased in glutamate-cysteine ligase modulatory subunit knockout (GCLM-KO) mice, which exhibit low GSH levels. Thus our findings reveal a previously unrecognized decrease in brain vitamin B12 status across the lifespan that may reflect an adaptation to increasing antioxidant demand, while accelerated deficits due to GSH deficiency may contribute to neurodevelopmental and neuropsychiatric disorders.
