1. {{Autism: the international journal of research and practice}}. {Autism};2012 (Jan);16(1):99.
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2. Chen GM, Yoder KJ, Ganzel BL, Goodwin MS, Belmonte MK. {{Harnessing repetitive behaviours to engage attention and learning in a novel therapy for autism: an exploratory analysis}}. {Front Psychol};2012;3:12.
Rigorous, quantitative examination of therapeutic techniques anecdotally reported to have been successful in people with autism who lack communicative speech will help guide basic science toward a more complete characterisation of the cognitive profile in this underserved subpopulation, and show the extent to which theories and results developed with the high-functioning subpopulation may apply. This study examines a novel therapy, the « Rapid Prompting Method » (RPM). RPM is a parent-developed communicative and educational therapy for persons with autism who do not speak or who have difficulty using speech communicatively. The technique aims to develop a means of interactive learning by pointing amongst multiple-choice options presented at different locations in space, with the aid of sensory « prompts » which evoke a response without cueing any specific response option. The prompts are meant to draw and to maintain attention to the communicative task – making the communicative and educational content coincident with the most physically salient, attention-capturing stimulus – and to extinguish the sensory-motor preoccupations with which the prompts compete. Video-recorded RPM sessions with nine autistic children ages 8-14 years who lacked functional communicative speech were coded for behaviours of interest. An analysis controlled for age indicates that exposure to the claimed therapy appears to support a decrease in repetitive behaviours and an increase in the number of multiple-choice response options without any decrease in successful responding. Direct gaze is not related to successful responding, suggesting that direct gaze might not be any advantage for this population and need not in all cases be a precondition to communication therapies.
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3. Falck-Ytter T, Fernell E, Hedvall AL, von Hofsten C, Gillberg C. {{Gaze Performance in Children with Autism Spectrum Disorder when Observing Communicative Actions}}. {J Autism Dev Disord};2012 (Feb 22)
The main purpose of this eye tracking study was to map the correlates of gaze performance in a brief test of spontaneous gaze and point-gesture following in young children with autistic disorder (AD), Pervasive developmental disorder-not otherwise specified (PDD-NOS), or typical development (TD). Gaze measures included the children’s spontaneous tendency to look at the correct (attended) toy, and the latency of their correct responses. In addition to group differences (AD vs. TD), we found that in AD, accuracy of performance was specifically related to adaptive communication skills. The study also indicated that the latency of correct gaze shifts is related to verbal intelligence. These results have direct implications for our understanding of (responsive) joint attention impairments in AD.
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4. Gokben S, Ardic UA, Serdaroglu G. {{Use of buspirone and fluoxetine for breathing problems in rett syndrome}}. {Pediatr Neurol};2012 (Mar);46(3):192-194.
Rett syndrome is a severe neurodevelopmental disease with a prevalence of 0.88 per 10,000 girls aged 5-18 years, and is often caused by mutations in methyl-cytosine-phosphate-guanine (CpG)-binding protein 2. Disorder of respiratory control is a prominent feature of Rett syndrome. Brainstem serotoninergic neurons are known to play an important role in the arrangement of breathing rhythm and pattern. We present a patient whose severe hyperventilation and apneic attacks resolved with the concomitant treatment of fluoxetine and buspirone. To our knowledge, we describe the first patient with Rett syndrome to receive fluoxetine for respiratory problems.
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5. Just MA, Keller TA, Malave VL, Kana RK, Varma S. {{Autism as a neural systems disorder: A theory of frontal-posterior underconnectivity}}. {Neurosci Biobehav Rev};2012 (Feb 14)
The underconnectivity theory of autism attributes the disorder to lower anatomical and functional systems connectivity between frontal and more posterior cortical processing. Here we review evidence for the theory and present a computational model of an executive functioning task (Tower of London) implementing the assumptions of underconnectivity. We make two modifications to a previous computational account of performance and brain activity in typical individuals in the Tower of London task (Newman et al., 2003): (1) the communication bandwidth between frontal and parietal areas was decreased and (2) the posterior centers were endowed with more executive capability (i.e., more autonomy, an adaptation is proposed to arise in response to the lowered frontal-posterior bandwidth). The autism model succeeds in matching the lower frontal-posterior functional connectivity (lower synchronization of activation) seen in fMRI data, as well as providing insight into behavioral response time results. The theory provides a unified account of how a neural dysfunction can produce a neural systems disorder and a psychological disorder with the widespread and diverse symptoms of autism.
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6. Landi S, Putignano E, Boggio EM, Giustetto M, Pizzorusso T, Ratto GM. {{The short-time structural plasticity of dendritic spines is altered in a model of Rett syndrome}}. {Sci Rep};2011;1:45.
The maturation of excitatory transmission comes about through a developmental period in which dendritic spines are highly motile and their number, form and size are rapidly changing. Surprisingly, although these processes are crucial for the formation of cortical circuitry, little is known about possible alterations of these processes in brain disease. By means of acute in vivo 2-photon imaging we show that the dynamic properties of dendritic spines of layer V cortical neurons are deeply affected in a mouse model of Rett syndrome (RTT) at a time around P25 when the neuronal phenotype of the disease is still mild. Then, we show that 24h after a subcutaneous injection of IGF-1 spine dynamics is restored. Our study demonstrates that spine dynamics in RTT mice is severely impaired early during development and suggest that treatments for RTT should be started very early in order to reestablish a normal period of spine plasticity.
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7. Mechling LC, Ayres KM. {{A Comparative Study: Completion of Fine Motor Office Related Tasks by High School Students with Autism Using Video Models on Large and Small Screen Sizes}}. {J Autism Dev Disord};2012 (Feb 22)
The purpose of this investigation was to compare fine motor task completion when using video models presented on a smaller screen size (Personal Digital Assistant) compared to a larger laptop screen size. The investigation included four high school students with autism spectrum disorders and mild to moderate intellectual disabilities and used an adapted alternating treatments design with baseline, extended baseline, comparison, and final treatment conditions. Results showed that although independent completion of fine motor office related tasks increased under both procedures, use of video models on the larger screen resulted in a higher percentage of correct responses across all four students.
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8. Rotschafer SE, Trujillo MS, Dansie LE, Ethell IM, Razak KA. {{Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome}}. {Brain Res};2012 (Feb 23);1439:7-14.
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability, with behaviors characteristic of autism. Symptoms include abnormal social behavior, repetitive behavior, communication disorders, and seizures. Many symptoms of FXS have been replicated in the Fmr1 knockout (KO) mice. Whether Fmr1 KO mice exhibit vocal communication deficits is not known. By recording ultrasonic vocalizations (USV) produced by adult male mice during mating, we show that USV calling rate (number of calls/second) is reduced in Fmr1 KO mice compared to WT controls. The WT control and Fmr1 KO groups did not differ in other aspects of mating behavior such as time spent sniffing, mounting, rooting and without contact. Acoustic properties of calls such as mean frequency (in kHz), duration and dynamic range of frequencies were not different. This indicates a specific deficit in USV calling rate in Fmr1 KO mice. Previous studies have shown that treatment of Fmr1 KO mice with minocycline for 4weeks from birth can alleviate some behavioral symptoms. Here we tested if minocycline also reversed vocalization deficits in these mice. Calling rate increased and was similar to WT controls in adult Fmr1 KO mice treated with minocycline for four weeks from birth (P0-P28). All acoustic properties measured were similar in treated and untreated WT control mice indicating minocycline effects were specific to vocalizations in the Fmr1 KO mice. These data suggest that mating-related USVs are robust and relevant biomarkers of FXS, and that minocycline treatment is a promising avenue for treatment of FXS symptoms.
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9. Wright B, Pearce H, Allgar V, Miles J, Whitton C, Leon I, Jardine J, McCaffrey N, Smith R, Holbrook I, Lewis J, Goodall D, Alderson-Day B. {{A Comparison of Urinary Mercury between Children with Autism Spectrum Disorders and Control Children}}. {PLoS One};2012;7(2):e29547.
BACKGROUND: Urinary mercury concentrations are used in research exploring mercury exposure. Some theorists have proposed that autism is caused by mercury toxicity. We set out to test whether mercury concentrations in the urine of children with autism were significantly increased or decreased compared to controls or siblings. METHODS: Blinded cohort analyses were carried out on the urine of 56 children with autism spectrum disorders (ASD) compared to their siblings (n = 42) and a control sample of children without ASD in mainstream (n = 121) and special schools (n = 34). RESULTS: There were no statistically significant differences in creatinine levels, in uncorrected urinary mercury levels or in levels of mercury corrected for creatinine, whether or not the analysis is controlled for age, gender and amalgam fillings. CONCLUSIONS: This study lends no support for the hypothesis of differences in urinary mercury excretion in children with autism compared to other groups. Some of the results, however, do suggest further research in the area may be warranted to replicate this in a larger group and with clear measurement of potential confounding factors.
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10. Yasuda H, Yoshida K, Yasuda Y, Tsutsui T. {{Infantile zinc deficiency: Association with autism spectrum disorders}}. {Sci Rep};2011;1:129.
Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than -2 standard deviation level of its reference range (86.3-193ppm). The incidence rate of zinc deficiency in infant group aged 0-3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention.
