1. Altamimi M. {{Could Autism Be Associated With Nutritional Status in the Palestinian population? The Outcomes of the Palestinian Micronutrient Survey}}. {Nutr Metab Insights};2018;11:1178638818773078.
Background: Autism spectrum disorder is a neurodevelopmental disorder. It is believed that the cause of autism is multifactorial, where genetic predispositions interact with environmental factors. In this context, micronutrients play a crucial role. Objective: To present evidence on current micronutrient status in Palestine and highlight its possible role in increasing problems of neurodevelopment disorders in general and autism in particular. Method: Analytical review of results. Results And Conclusions: The Palestinian Micronutrient Survey was conducted to assess micronutrient status in most vulnerable groups and also micronutrient deficiencies. The data from Palestinian population showed severe anaemia due to iron, Zn, B12, and folic acid deficiencies. One in every 3 Palestinian pregnant women is anaemic. Moreover, 78.2% and 87.1% of lactating mothers from the West Bank and Gaza Strip are Zn deficient. For children from 6 to 59 months old, 1 in every 4 boys and 1 in every 5 girls are considered anaemic. Similar trend was found with respect to vitamins E, D, A, and folic acid. We reviewed the literature that linked micronutrient deficiencies to neurodevelopmental disorders and expected the number of neurodevelopmental disorder cases, including autism, to increase.
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2. Boone CE, Davoudi H, Harrold JB, Foster DJ. {{Abnormal Sleep Architecture and Hippocampal Circuit Dysfunction in a Mouse Model of Fragile X Syndrome}}. {Neuroscience};2018 (May 21)
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice. We performed in vivo electrophysiological studies of freely behaving Fmr1-KO mice to assess neural activity, in the form of single-unit spiking and local field potential (LFP), within the hippocampal CA1 region during multiple differentiated sleep and wake states. Here, we demonstrate that Fmr1-KO mice exhibited a deficit in rapid eye movement sleep (REM) due to a reduction in the frequency of bouts of REM, consistent with sleep architecture abnormalities of FXS patients. Fmr1-KO CA1 pyramidal cells (CA1-PCs) were hyperactive in all sleep and wake states. Increased low gamma power in CA1 suggests that this hyperactivity was related to increased input to CA1 from CA3. By contrast, slower sharp-wave ripple events (SWRs) in Fmr1-KO mice exhibited longer event duration, slower oscillation frequency, with reduced CA1-PC firing rates during SWRs, yet the incidence rate of SWRs remained intact. These results suggest abnormal neuronal activity in the Fmr1-KO mouse during SWRs, and hyperactivity during other wake and sleep states, with likely adverse consequences for memory processes.
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3. Duda M, Wall DP. {{Rising interdisciplinary collaborations refine our understanding of autisms and give hope to more personalized solutions}}. {Per Med};2015 (Aug);12(4):359-369.
Autism is heterogeneous, complex and arguably a condition of many conditions. Both the number of researchers and the number of research collaborations in the field of autism have been growing at unprecedented rates. Interdisciplinary collaborations have increased more than eightfold since the year 2000. In fact, most – if not all – areas of autism research are starting to converge, and these convergences are leading not only to a richer research network but also to a causal network for autism. This network can, and likely will, decode the many forms of autism into its various subcomponents, enabling increasingly more personalized approaches for both the detection and treatment of those different forms of autism.
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4. Einspieler C, Marschik PB, Domingues W, Talisa VB, Bartl-Pokorny KD, Wolin T, Sigafoos J. {{Monozygotic twins with Rett syndrome: Phenotyping the first two years of life}}. {J Dev Phys Disabil};2014 (Apr);26(2):171-182.
The first two years of life for children with Rett syndrome (RTT) have previously been viewed as relatively asymptomatic. However, it is possible that subtle symptoms may be present in early development. To identify possible early indicators of RTT, we analysed videotapes of two twin girls with RTT. The videotapes were analysed to (a) describe the motor and communicative development of this twin pair with RTT; and to (b) explore whether early abnormalities and their age of onset differed between the twins and were related to their later clinical phenotypes. The results indicated several neurodevelopmental abnormalities present before the children exhibited any obvious signs of regression. Abnormalities were evident in the motor, speech-language and communicative domains. These data support an emerging evidence base showing the presence of developmental abnormalities in children with RTT during the first year of life. The results have implications for early screening and clinical assessment.
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5. Einspieler C, Sigafoos J, Bolte S, Bratl-Pokorny KD, Landa R, Marschik PB. {{Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett Syndrome}}. {Res Autism Spectr Disord};2014 (Mar);8(3):286-291.
We review literature identifying an association between motor abnormality in the first 5 months of infancy and later diagnosis of autism spectrum disorder (ASD) or Rett syndrome (RTT). The assessment of the quality of early spontaneous movements (also known as the assessment of general movements; GMs) is a diagnostic tool that has repeatedly proven to be valuable in detecting early markers for neurodevelopmental disorders. Even though the rate of occurrence of abnormal GMs is exceedingly high in infants later diagnosed with ASD, we endorse further studies using this method either based on family videos or its prospective implementation in high-risk sibling studies to evaluate the power of GM assessment as one potential marker for early maldevelopment in this cohort.
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6. Gengoux GW, Schapp S, Burton S, Ardel CM, Libove RA, Baldi G, Berquist KL, Phillips JM, Hardan AY. {{Effects of a parent-implemented Developmental Reciprocity Treatment Program for children with autism spectrum disorder}}. {Autism};2018 (May 1):1362361318775538.
Developmental approaches to autism treatment aim to establish strong interpersonal relationships through joint play. These approaches have emerging empirical support; however, there is a need for further research documenting the procedures and demonstrating their effectiveness. This pilot study evaluated changes in parent behavior and child autism symptoms following a 12-week Developmental Reciprocity Treatment parent-training program. A total of 22 children with autism spectrum disorder between 2 and 6 years (mean age = 44.6 months, standard deviation = 12.7) and a primary caregiver participated in 12 weekly sessions of Developmental Reciprocity Treatment parent training, covering topics including introduction to developmental approaches, supporting attention and motivation, sensory regulation and sensory-social routines, imitation/building nonverbal communication, functional language development, and turn taking. Results indicated improvement in aspects of parent empowerment and social quality of life. Improvement in core autism symptoms was observed on the Social Responsiveness Scale total score (F(1,19): 5.550, p = 0.029), MacArthur-Bates Communicative Development Inventories number of words produced out of 680 (F(1,18): 18.104, p = 0.000), and two subscales of the Repetitive Behavior Scale, Revised (compulsive, p = 0.046 and restricted, p = 0.025). No differences in sensory sensitivity were observed on the Short Sensory Profile. Findings from this pilot study indicate that Developmental Reciprocity Treatment shows promise and suggest the need for future controlled trials of this developmentally based intervention.
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7. Hudson RF, Sanders EA, Greenway R, Xie S, Smith M, Gasamis C, Martini J, Schwartz I, Hackett J. {{Effects of Emergent Literacy Interventions for Preschoolers With Autism Spectrum Disorder}}. {Except Child};2017 (Oct);84(1):55-75.
Combining data from a series of three planned, consecutive independent randomized controlled trials (RCTs), the present study investigates two literacy interventions for preschool children with autism spectrum disorder (ASD). For the first cohort, children were randomized to interactive book reading treatment (IBR)or a business-as-usual (BAU) control condition; in Cohort 2, children were randomized to phonological awareness treatment (PA)or BAU; in Cohort 3, children were randomized to IBR or PA. Both treatments were implemented weekly in the classroom from November to May. Combined across cohorts, data from n =47 IBR, n =42 PA, and n =44 BAU students from 57 classrooms in 8 districts were available for analysis. Model results showed that IBR had significantly greater pretest-posttest gains than the sample mean on expressive vocabulary and listening comprehension (d*=0.29 and 0.30), whereas PA had significantly greater phonological awareness gains (d*=0.39).
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8. Laure T, Dimitry G, Oren Z, Marcela K, Timothee T, Rasha M, Nir W, Hila BA, Meital NO, Omry K, Evan E. {{Dysbiosis of microbiome and probiotic treatment in a genetic model of autism spectrum disorders}}. {Brain Behav Immun};2018 (May 19)
Recent studies have determined that the microbiome has direct effects on behavior, and may be dysregulated in neurodevelopmental conditions. Considering that neurodevelopmental conditions, such as autism, have a strong genetic etiology, it is necessary to understand if genes associated with neurodevelopmental disorders, such as Shank3, can influence the gut microbiome, and if probiotics can be a therapeutic tool. In this study, we have identified dysregulation of several genera and species of bacteria in the gut and colon of both male and female Shank3 KO mice. L. reuteri, a species with decreased relative abundance in the Shank3 KO mice, positively correlated with the expression of gamma-Aminobutyric acid (GABA) receptor subunits in the brain. Treatment of Shank3 KO mice with L. reuteri induced an attenuation of unsocial behavior specifically in male Shank3 mice, and a decrease in repetitive behaviors in both male and female Shank3 KO mice. In addition, L. reuteri treatment affected GABA receptor gene expression and protein levels in multiple brain regions. This study identifies bacterial species that are sensitive to an autism-related mutation, and further suggests a therapeutic potential for probiotic treatment.
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9. Roche L, Zhang D, Bartl-Pokorny KD, Pokorny FB, Schuller BW, Esposito G, Bolte S, Roeyers H, Poustka L, Gugatschka M, Waddington H, Vollmann R, Einspieler C, Marschik PB. {{Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis}}. {Adv Neurodev Disord};2018 (Mar);2(1):49-61.
This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first two years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These studies were then categorised according to whether children were later diagnosed with ASD (13 studies), RTT (8 studies), or FXS (2 studies), and then described in terms of (a) participant characteristics, (b) control group characteristics, (c) video footage, (d) behaviours analysed, and (e) main findings. This overview supports the use of RVA in analysing the early development of vocalisations in children later diagnosed with ASD, RTT or FXS, and provides an in-depth analysis of vocalisation presentation, complex vocalisation production, and the rate and/or frequency of vocalisation production across the three disorders. Implications are discussed in terms of extending crude vocal analyses to more precise methods that might provide more powerful means by which to discriminate between disorders during early development. A greater understanding of the early manifestation of these disorders may then lead to improvements in earlier detection.
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10. Sheela P, Puthankattil SD. {{Event related potential analysis techniques for autism spectrum disorders: A review}}. {Int J Dev Neurosci};2018 (May 19);68:72-82.
Autism Spectrum Disorders (ASD) comprise all pervasive neurodevelopmental diseases marked by deficits in social and communication skills, delayed cognitive development, restricted and repetitive behaviors. The core symptoms begin in early childhood, may continue life-long resulting in poor performance in adult stage. Event-related potential (ERP) is basically a time-locked electroencephalogram signal elicited by various stimuli, related to sensory and cognitive processes. The various ERP based techniques used for the study of ASD are considered in this review. ERP based study offers the advantage of being a non-invasive technique to measure the brain activity precisely. The techniques are categorized into three based on the processing domain: time, frequency and time-frequency. Power spectral density, coherence, phase synchrony, multiscale entropy, modified multiscale entropy, sum of signed differences, synchrostates and variance are some of the measures that have been widely used to study the abnormalities in frequency bands and brain connectivity. Various signal processing techniques such as Fast Fourier Transform, Discrete Fourier Transform, Short-Time Fourier Transform, Principal Component Analysis, Wavelet Transform, Directed Transfer Function etc. have been used to analyze the recorded signals so as to unravel the distinctive event-related potential patterns in individuals with ASD. The review concludes that ERP proves to be an efficient tool in detecting the brain abnormalities and connectivity issues, indicating the heterogeneity of ASD. Many advanced techniques are utilized to decipher the underlying neural circuitry so as to aid in therapeutic interventions for improving the core areas of deficits.
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11. Stauch TA, Plavnick JB, Sankar S, Gallagher AC. {{Teaching social perception skills to adolescents with autism and intellectual disabilities using video-based group instruction}}. {J Appl Behav Anal};2018 (May 17)
Few interventions focus on teaching social skills to adolescents with autism spectrum disorder (ASD) and intellectual disabilities (ID) that are consistently used during interactions with peers ( Carter et al., 2014). The present study evaluated the effects of video-based group instruction (VGI) on the acquisition of social perception skills of five adolescents with ASD or ID in a public school setting. Social perception involves observing affective behaviors of others, discriminating relevant environmental stimuli, and differentially reinforcing the affective behavior of another person. Typically developing peers supported VGI implementation as social partners for participants. A multiple probe design across behaviors demonstrated the effectiveness of VGI for teaching social perception skills. Four of five participants acquired and maintained the targeted social perception skills, and we observed some transfer to a nontreatment setting. Results of this study suggest VGI may support the acquisition of social perception among adolescents with ASD or ID.
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12. Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B. {{Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes}}. {Am J Med Genet A};2018 (May 19)
