1. Afzal SY, Wender AR, Jones MD, Fung EB, Pico EL. {{The effect of low magnitude mechanical stimulation (LMMS) on bone density in patients with Rett syndrome: A pilot and feasibility study}}. {J Pediatr Rehabil Med};2014 (Jan 1);7(2):167-178.
PURPOSE: Low magnitude mechanical stimulation (LMMS) has been used successfully to promote bone formation in certain patient populations. This study evaluated the feasibility and effectiveness of LMMS on improving bone mineral density (BMD) in patients with Rett syndrome. METHODS: A 12-month crossover pilot study design of 6 months of intervention with LMMS and 6 months without was studied in 14 subjects divided in two subgroups. BMD was assessed using Dual Energy X-ray Absorptiometry (DXA). The levels of 25-hydroxy vitamin D (25OHD), Parathyroid Hormone (PTH), Insulin-Like Growth Factor 1 (IGF-1), and circulating markers of bone resorption (NTx) were analyzed in blood samples. Health questionnaires and diet logs were obtained at 0, 6, and 12 months. RESULTS: Of the 11 subjects who completed the protocol, 9 had an adherence of > 65% and showed an increase in spine BMD Z-scores from the intervention (Z: -2.51) compared to non-intervention period (Z: -2.27) of 0.23 SD (p=0.048). Following intervention, favorable trends were also observed for IGF-1 (p=0.06) and right distal femur BMD Z-scores (p=0.07). CONCLUSIONS: These preliminary results are promising for a larger, placebo-controlled randomized study of subjects with Rett syndrome.
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2. Anagnostou E, Jones N, Huerta M, Halladay AK, Wang P, Scahill L, Horrigan JP, Kasari C, Lord C, Choi D, Sullivan K, Dawson G. {{Measuring social communication behaviors as a treatment endpoint in individuals with autism spectrum disorder}}. {Autism};2014 (Aug 5)
Social communication impairments are a core deficit in autism spectrum disorder. Social communication deficit is also an early indicator of autism spectrum disorder and a factor in long-term outcomes. Thus, this symptom domain represents a critical treatment target. Identifying reliable and valid outcome measures for social communication across a range of treatment approaches is essential. Autism Speaks engaged a panel of experts to evaluate the readiness of available measures of social communication for use as outcome measures in clinical trials. The panel held monthly conference calls and two face-to-face meetings over 14 months. Key criteria used to evaluate measures included the relevance to the clinical target, coverage of the symptom domain, and psychometric properties (validity and reliability, as well as evidence of sensitivity to change). In all, 38 measures were evaluated and 6 measures were considered appropriate for use, with some limitations. This report discusses the relative strengths and weaknesses of existing social communication measures for use in clinical trials and identifies specific areas in need of further development.
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3. Gillespie-Smith K, Doherty-Sneddon G, Hancock PJ, Riby DM. {{That looks familiar: attention allocation to familiar and unfamiliar faces in children with autism spectrum disorder}}. {Cogn Neuropsychiatry};2014 (Aug 7):1-16.
Introduction. Existing eye-tracking literature has shown that both adults and children with autism spectrum disorders (ASD) show fewer and slower fixations on faces. Despite this reduced saliency and processing of other faces, recognition of their own face is reported to be more « typical » in nature. This study uses eye-tracking to explore the typicality of gaze patterns when children with ASD attend their own faces compared to other familiar and unfamiliar faces. Methods. Eye-tracking methodology was used to explore fixation duration and time taken to fixate on the Eye and Mouth regions of familiar, unfamiliar and Self Faces. Twenty-one children with ASD (9-16 years) were compared to typically developing matched groups. Results. There were no significant differences between children with ASD and typically matched groups for fixation patterns to the Eye and Mouth areas of all face types (familiar, unfamiliar and self). Correlational analyses showed that attention to the Eye area of unfamiliar and Self Faces was related to socio-communicative ability in children with ASD. Conclusions. Levels of socio-communicative ability in children with ASD were related to gaze patterns on unfamiliar and Self Faces, but not familiar faces. This lack of relationship between ability and attention to familiar faces may indicate that children across the autism spectrum are able to fixate these faces in a similar way. The implications for these findings are discussed.
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4. Lewis S. {{Neurodegenerative disease: Brain-gut connection in autism?}}. {Nat Rev Neurosci};2014 (Aug 6)
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5. Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto YI, Nishino I, Ohtake A, King MC, Matsumoto N. {{A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation}}. {J Hum Genet};2014 (Aug 7)
Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.Journal of Human Genetics advance online publication, 7 August 2014; doi:10.1038/jhg.2014.71.
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6. Shohat S, Shifman S. {{Bias towards large genes in autism}}. {Nature};2014 (Aug 7);512(7512):E1-2.
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7. Wada M, Suzuki M, Takaki A, Miyao M, Spence C, Kansaku K. {{Spatio-temporal processing of tactile stimuli in autistic children}}. {Sci Rep};2014;4:5985.
Altered multisensory integration has been reported in autism; however, little is known concerning how the autistic brain processes spatio-temporal information concerning tactile stimuli. We report a study in which a crossed-hands illusion was investigated in autistic children. Neurotypical individuals often experience a subjective reversal of temporal order judgments when their hands are stimulated while crossed, and the illusion is known to be acquired in early childhood. However, under those conditions where the somatotopic representation is given priority over the actual spatial location of the hands, such reversals may not occur. Here, we showed that a significantly smaller illusory reversal was demonstrated in autistic children than in neurotypical children. Furthermore, in an additional experiment, the young boys who had higher Autism Spectrum Quotient (AQ) scores generally showed a smaller crossed hands deficit. These results suggest that rudimentary spatio-temporal processing of tactile stimuli exists in autistic children, and the altered processing may interfere with the development of an external frame of reference in real-life situations.
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8. Williams DL, Mazefsky CA, Walker JD, Minshew NJ, Goldstein G. {{Associations Between Conceptual Reasoning, Problem Solving, and Adaptive Ability in High-functioning Autism}}. {J Autism Dev Disord};2014 (Aug 7)
Abstract thinking is generally highly correlated with problem-solving ability which is predictive of better adaptive functioning. Measures of conceptual reasoning, an ecologically-valid laboratory measure of problem-solving, and a report measure of adaptive functioning in the natural environment, were administered to children and adults with and without autism. The individuals with autism had weaker conceptual reasoning ability than individuals with typical development of similar age and cognitive ability. For the autism group, their flexible thinking scores were significantly correlated with laboratory measures of strategy formation and rule shifting and with reported overall adaptive behavior but not socialization scores. Therefore, in autism, flexibility of thought is potentially more important for adaptive functioning in the natural environment than conceptual reasoning or problem-solving.
