1. Castro K, Slongo Faccioli L, Baronio D, Gottfried C, Schweigert Perry I, Riesgo R. {{Body composition of patients with autism spectrum disorder through bioelectrical impedance}}. {Nutr Hosp}. 2017; 34(4): 875-9.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in sociability, communication, and limited repertoire of interests and behaviors. OBJECTIVES: We aimed to investigate the nutritional status through bioelectrical impedance analysis (BIA) and antrophometrics variables in 63 ASD children and adolescents (10.5 +/- 4.1 years; 81% male). MATERIALS AND METHODS: Anthropometric variables were weight, height, and waist circumference (WC); body composition (fat mass, fat free mass) and phase angle (PA) were obtained through BIA. RESULTS: The body mass index showed a prevalence of overweight, obesity and underweight of 38.9, 36.5 and 15.8%, respectively. According to the body fat percentual, obesity prevalence was 49.2%, and 49.2% showed WC > 80th percentile for age. Eleven patients presented lower PA values than references. CONCLUSION: According to the these parameters, a large percentual of ASD children and adolescents in this sample had total overweight and obesity and truncal adiposity, which causes concern, as well as the percentage of underweight participants.
2. Cho IYK, Jelinkova K, Schuetze M, Vinette SA, Rahman S, McCrimmon A, Dewey D, Bray S. {{Circumscribed interests in adolescents with Autism Spectrum Disorder: A look beyond trains, planes, and clocks}}. {PLoS One}. 2017; 12(11): e0187414.
Adolescence is a unique developmental period, characterized by physical and emotional growth and significant maturation of cognitive and social skills. For individuals with Autism Spectrum Disorder (ASD), it is also a vulnerable period as cognitive and social skills can deteriorate. Circumscribed interests (CIs), idiosyncratic areas of intense interest and focus, are a core symptom of ASD that may be associated with social development. Yet, relatively little is known about the expression of CIs in adolescents with ASD. Many studies investigating CIs have used images depicting items of special interest; however, it is not clear how images should be customized for adolescent studies. The goal of this study was to gain insight into the types of images that may be appropriate for studies of CIs in adolescents with ASD. To this end, we used a mixed methods design that included, 1) one-on-one interviews with 10 adolescents (4 with ASD and 6 TD), to identify categories of images that were High Autism Interest (‘HAI’) or High Typically Developing Interest (‘HTD’), and 2) an online survey taken by fifty-three adolescents with ASD (42 male) and 135 typically developing (TD) adolescents (55 male) who rated how much they liked 105 ‘HAI’ and ‘HTD’ images. Although we found a significant interaction between ‘HAI’ and ‘HTD’ categories and diagnosis, neither group significantly preferred one category over the other, and only one individual category (‘Celebrities’) showed a significant group effect, favored by TD adolescents. Males significantly preferred ‘HAI’ images relative to females, and TD adolescents significantly preferred images with social content relative to adolescents with ASD. Our findings suggest that studies investigating affective or neural responses to CI-related stimuli in adolescents should consider that stereotypical ASD interests (e.g. trains, gadgets) may not accurately represent individual adolescents with ASD, many of whom show interests that overlap with TD adolescents (e.g. video games).
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3. Forbes PAG, Hamilton AFC. {{A model to investigate intention understanding in autism?: Comment on « Seeing mental states: An experimental strategy for measuring the observability of other minds » by Cristina Becchio et al}}. {Phys Life Rev}. 2017.
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4. Hameed SS, Hassan R, Muhammad FF. {{Selection and classification of gene expression in autism disorder: Use of a combination of statistical filters and a GBPSO-SVM algorithm}}. {PLoS One}. 2017; 12(11): e0187371.
In this work, gene expression in autism spectrum disorder (ASD) is analyzed with the goal of selecting the most attributed genes and performing classification. The objective was achieved by utilizing a combination of various statistical filters and a wrapper-based geometric binary particle swarm optimization-support vector machine (GBPSO-SVM) algorithm. The utilization of different filters was accentuated by incorporating a mean and median ratio criterion to remove very similar genes. The results showed that the most discriminative genes that were identified in the first and last selection steps included the presence of a repetitive gene (CAPS2), which was assigned as the gene most highly related to ASD risk. The merged gene subset that was selected by the GBPSO-SVM algorithm was able to enhance the classification accuracy.
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5. Hoem G, Koht J. {{Fragile X-associated tremor/ataxia syndrome}}. {Tidsskr Nor Laegeforen}. 2017; 137(20).
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6. Lee Y, Park JY, Lee EH, Yang J, Jeong BR, Kim YK, Seoh JY, Lee S, Han PL, Kim EJ. {{Rapid Assessment of Microbiota Changes in Individuals with Autism Spectrum Disorder Using Bacteria-derived Membrane Vesicles in Urine}}. {Exp Neurobiol}. 2017; 26(5): 307-17.
Individuals with autism spectrum disorder (ASD) have altered gut microbiota, which appears to regulate ASD symptoms via gut microbiota-brain interactions. Rapid assessment of gut microbiota profiles in ASD individuals in varying physiological contexts is important to understanding the role of the microbiota in regulating ASD symptoms. Microbiomes secrete extracellular membrane vesicles (EVs) to communicate with host cells and secreted EVs are widely distributed throughout the body including the blood and urine. In the present study, we investigated whether bacteria-derived EVs in urine are useful for the metagenome analysis of microbiota in ASD individuals. To address this, bacterial DNA was isolated from bacteria-derived EVs in the urine of ASD individuals. Subsequent metagenome analysis indicated markedly altered microbiota profiles at the levels of the phylum, class, order, family, and genus in ASD individuals relative to control subjects. Microbiota identified from urine EVs included gut microbiota reported in previous studies and their up- and down-regulation in ASD individuals were partially consistent with microbiota profiles previously assessed from ASD fecal samples. However, overall microbiota profiles identified in the present study represented a distinctive microbiota landscape for ASD. Particularly, the occupancy of g_Pseudomonas, g_Sphingomonas, g_Agrobacterium, g_Achromobacter, and g_Roseateles decreased in ASD, whereas g_Streptococcus, g_Akkermansia, g_Rhodococcus, and g_Halomonas increased. These results demonstrate distinctively altered gut microbiota profiles in ASD, and validate the utilization of urine EVs for the rapid assessment of microbiota in ASD.
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7. Manor E, Jabareen A, Magal N, Kofman A, Hagerman RJ, Tassone F. {{Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?}}. {Front Genet}. 2017; 8: 158.
Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the maternal unstable allele which was inherited from his maternal grandmother. No size mosaicism was detected by testing the DNA from in vitro cultured samples, including seventh passage culture as well as from two amniocentesis samples. Sequence analysis confirmed that the allele was 19 CGG repeats long. Methylation assay showed no methylation. Although none of the techniques used in this study can provide with absolute certainty the diagnosis, the results strongly indicate the presence in the fetus of an allele with a CGG repeat number in the normal range. Because this is a prenatal diagnosis case, the crucial question is whether the 19 CGG allele derived from the maternal unstable expanded allele, which contracted to the normal range, became a normal stable allele or a normal unstable allele which could expand in the next generation. It is also possible that allele size mosaicism of the FMR1 gene that went undetected exists. Because this is a prenatal diagnosis case, we cannot with certainty exclude the presence of an undetected expanded allele of the FMR1 gene, in addition to the 19 CGG allele derived from an unstable expanded allele, which contracted to the normal range.
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8. Parsons TD, Riva G, Parsons S, Mantovani F, Newbutt N, Lin L, Venturini E, Hall T. {{Virtual Reality in Pediatric Psychology}}. {Pediatrics}. 2017; 140(Suppl 2): S86-S91.
Virtual reality (VR) technologies allow for controlled simulations of affectively engaging background narratives. These virtual environments offer promise for enhancing emotionally relevant experiences and social interactions. Within this context, VR can allow instructors, therapists, neuropsychologists, and service providers to offer safe, repeatable, and diversifiable interventions that can benefit assessments and learning in both typically developing children and children with disabilities. Research has also pointed to VR’s capacity to reduce children’s experience of aversive stimuli and reduce anxiety levels. Although there are a number of purported advantages of VR technologies, challenges have emerged. One challenge for this field of study is the lack of consensus on how to do trials. A related issue is the need for establishing the psychometric properties of VR assessments and interventions. This review investigates the advantages and challenges inherent in the application of VR technologies to pediatric assessments and interventions.
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9. Ueoka I, Kawashima H, Konishi A, Aoki M, Tanaka R, Yoshida H, Maeda T, Ozaki M, Yamaguchi M. {{Novel Drosophila model for psychiatric disorders including autism spectrum disorder by targeting of ATP-binding cassette protein A}}. {Exp Neurol}. 2017; 300: 51-9.
Autism spectrum disorder (ASD) is characterized by persistent deficits in social communication and social interactions, as well as restricted, stereotyped patterns of behavior and interests. In addition, alterations in circadian sleep-wake rhythm are common in young children with ASD. Mutations in ATP binding cassette subfamily A member 13 (ABCA13) have been recently identified in a monkey that displays behavior associated with ASD. ABCA13, a member of the ABCA family of proteins, is predicted to transport lipid molecules and is expressed in the human trachea, testis, bone marrow, hippocampus, cortex, and other tissues. However, its physiological function remains unknown. Drosophila CG1718 shows high homology to human ABCA genes including ABCA13 and is thus designated as Drosophila ABCA (dABCA). To elucidate the physiological role of dABCA, we specifically knocked down dABCA in all neurons of flies and investigated their phenotypes. The pan-neuron-specific knockdown of dABCA resulted in increased social space with the closest neighbor in adult male flies but exerted no effect on their climbing ability, indicating that the increase in social space is not due to a defect in their climbing ability. An activity assay with adult male flies revealed that knockdown of dABCA in all neurons induces early onset of evening activity in adult flies followed by relatively high activity during morning peaks, evening peaks, and midday siesta. These phenotypes are similar to defects observed in human ASD patients, suggesting that the established dABCA knockdown flies are a promising model for ASD. In addition, an increase in satellite boutons in presynaptic terminals of motor neurons was observed in dABCA knockdown third instar larvae, suggesting that dABCA regulates the formation and/or maintenance of presynaptic terminals of motor neurons.
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10. Zhang K, Li YJ, Guo Y, Zheng KY, Yang Q, Yang L, Wang XS, Song Q, Chen T, Zhuo M, Zhao MG. {{Elevated progranulin contributes to synaptic and learning deficit due to loss of fragile X mental retardation protein}}. {Brain}. 2017.
Fragile X syndrome is an inheritable form of intellectual disability caused by loss of fragile X mental retardation protein (FMRP, encoded by the FMR1 gene). Absence of FMRP caused overexpression of progranulin (PGRN, encoded by GRN), a putative tumour necrosis factor receptor ligand. In the present study, we found that progranulin mRNA and protein were upregulated in the medial prefrontal cortex of Fmr1 knock-out mice. In Fmr1 knock-out mice, elevated progranulin caused insufficient dendritic spine pruning and late-phase long-term potentiation in the medial prefrontal cortex of Fmr1 knock-out mice. Partial progranulin knock-down restored spine morphology and reversed behavioural deficits, including impaired fear memory, hyperactivity, and motor inflexibility in Fmr1 knock-out mice. Progranulin increased levels of phosphorylated glutamate ionotropic receptor GluA1 and nuclear factor kappa B in cultured wild-type neurons. Tumour necrosis factor receptor 2 antibody perfusion blocked the effects of progranulin on GluA1 phosphorylation; this result indicates that tumour necrosis factor receptor 2 is required for progranulin-mediated GluA1 phosphorylation and late-phase long-term potentiation expression. However, high basal level of progranulin in Fmr1 knock-out mice prevented further facilitation of synaptic plasticity by exogenous progranulin. Partial downregulation of progranulin or tumour necrosis factor receptor 2/nuclear factor kappa B signalling restored synaptic plasticity and memory deficits in Fmr1 knock-out mice. These findings suggest that elevated PGRN is linked to cognitive deficits of fragile X syndrome, and the progranulin/tumour necrosis factor receptor 2 signalling pathway may be a putative therapeutic target for improving cognitive deficits in fragile X syndrome.
