1. Bicer AH, Alsaffar AA. {{Body mass index, dietary intake and feeding problems of Turkish children with autism spectrum disorder (ASD)}}. {Research in developmental disabilities}. 2013 Sep 9;34(11):3978-87.
The body mass index of 164 children (aged 4-18 years) attending four autism rehabilitation centers in Istanbul, Turkey, was determined and assessed using the BMI-for-age percentile charts by the World Health Organization (WHO). The mean intake of energy and nutrients of 115 children were calculated using three-day food records. The feeding assessment surveys filled in by the parents/caregivers indicated that the major feeding problem among children was food selectivity. The majority of the children were overweight or obese (58.5%). A total of 11% of children were found to be severely thin and thin. The calcium, zinc, vitamin B6 and folate intake of the majority of children were inadequate. The salt consumption in all age groups and cholesterol intake in normal, overweight and obese children were high.
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2. Crowder SA, Merritte K. {{The possible therapeutic benefits of utilizing motion gaming systems on pediatric patients presenting autism}}. {Tennessee medicine : journal of the Tennessee Medical Association}. 2013 Sep;106(8):41-3.
Autism is a pervasive developmental disorder that affects a growing number of children in the United States each year. It is characterized by substantive differences in brain structure and function that lead to long-term cognitive and social deficits. These differences, combined with the increasing prevalence of autism in children, warrant the need for development of innovative, cost-effective and widely available alternative and complementary therapies. Motion gaming has the potential to be highly efficacious as a therapeutic technique to aid in developing memory, facial recognition, motor skills and social integration in the pediatric autistic population. This paper outlines the major deficits in the brains of individuals with autism and describes how the use of motion gaming could capitalize on the individual strengths of each patient, leading to improvements in a variety of deficits.
3. Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O. {{Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis}}. {Journal of medical genetics}. 2013 Sep 12.
BACKGROUND: The heritability of autism spectrum disorder is currently estimated at 55%. Identification of the molecular basis of patients with syndromic autism extends our understanding of the pathogenesis of autism in general. The objective of this study was to find the gene mutated in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy. METHODS AND RESULTS: By linkage analysis and exome sequencing, we identified deleterious mutations in SLC35A3 in these patients. SLC35A3 encodes the major Golgi uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) transporter. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar was significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms. CONCLUSIONS: Spontaneous mutation in SLC35A3 has been discovered in cattle worldwide, recapitulating the human phenotype with arthrogryposis and additional skeletal defects known as Complex Vertebral Malformation syndrome. The skeletal anomalies in the mutant cattle and in our patients, and perhaps even the neurological symptoms are likely the consequence of the lack of high-branched N-glycans and the concomitant abundance of lower-branched glycoforms at the cell surface. This pattern has previously been associated with growth arrest and induction of differentiation. With this study, we add SLC35A3 to the gene list of autism spectrum disorders, and underscore the crucial importance of UDP-GlcNAc in the regulation of the N-glycan branching pathway in the Golgi apparatus.
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4. Kim KC, Lee DK, Go HS, Kim P, Choi CS, Kim JW, Jeon SJ, Song MR, Shin CY. {{Pax6-Dependent Cortical Glutamatergic Neuronal Differentiation Regulates Autism-Like Behavior in Prenatally Valproic Acid-Exposed Rat Offspring}}. {Molecular neurobiology}. 2013 Sep 13.
Imbalance in excitatory/inhibitory signal in the brain has been proposed as one of the main pathological features in autism spectrum disorders, although the underlying cellular and molecular mechanism is unclear yet. Because excitatory/inhibitory imbalance can be induced by aberration in glutamatergic/GABAergic neuronal differentiation, we investigated the mechanism of dysregulated neuronal differentiation between excitatory and inhibitory neurons in the embryonic and postnatal brain of prenatally valproic acid-exposed rat offspring, which is often used as an animal model of autism spectrum disorders. Transcription factor Pax6, implicated in glutamatergic neuronal differentiation, was transiently increased in embryonic cortex by valproate exposure, which resulted in the increased expression of glutamatergic proteins in postnatal brain of offspring. Chromatin immunoprecipitation showed increased acetylated histone binding on Pax6 promoter region, which may underlie the transcriptional up-regulation of Pax6. Other histone deacetylase (HDAC) inhibitors including TSA and SB but not valpromide, which is devoid of HDAC inhibitor activity, induced Pax6 up-regulation. Silencing Pax6 expression in cultured rat primary neural progenitor cells demonstrated that up-regulation of Pax6 plays an essential role in valproate-induced glutamatergic differentiation. Blocking glutamatergic transmission with MK-801 or memantine treatment, and to a lesser extent with MPEP treatment, reversed the impaired social behaviors and seizure susceptibility of prenatally valproate-exposed offspring. Together, environmental factors may contribute to the imbalance in excitatory/inhibitory neuronal activity in autistic brain by altering expression of transcription factors governing glutamatergic/GABAergic differentiation during fetal neural development, in conjunction with the genetic preload.
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5. Mazzone L, Postorino V, De Peppo L, Fatta L, Lucarelli V, Reale L, Giovagnoli G, Vicari S. {{Mood symptoms in children and adolescents with autism spectrum disorders}}. {Research in developmental disabilities}. 2013 Sep 9;34(11):3699-708.
Asperger Syndrome (AS) and High Functioning Autism (HFA) are psychiatric conditions belonging to the Autistic Spectrum Disorders (ASDs), characterized by social dysfunction and focused interest, in the absence of mental retardation. Previous reports suggest that AS/HFA may be associated with important psychiatric comorbidities. Among the psychiatric internalizing disorders, depression and anxiety are probably the most common disorders. The aim of this study is to evaluate the prevalence of mood disorders and identifying peculiar clinical features in subjects suffering from AS and HFA. 30 male patients with AS/HFA, 30 male patients affected by Major Depression (MD) and 35 male Typically Developing (TD) comparison were assessed with the CDI and the CDRS-R. Participants’ parents were invited to complete the CBCL and the P-YMRS. Moreover, the CGAS was rated by the clinicians. The evaluation of depressive symptoms showed that AS/HFA group reported higher depressive symptoms, as showed by CDI total, CBCL internalizing and CDRS-R total, compared to the TD group. No significant difference of depressive symptoms was found between the AS/HFA and the MD group, with the exception of CDRS-R total score. Moreover, linear regression analysis in the AS/HFA group between CGAS and depressive symptoms revealed that a higher level of depressive symptoms increased the risk of poorer global functioning. These results suggest that the depressive symptoms in AS/HFA patients may be associated with poorer global functioning, with a consequent impairment in their psychological profile and social adjustment, and should alert clinicians to the importance of assessing mood disorders in order to choose the appropriate treatment.
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6. Mire SS, Nowell KP, Kubiszyn T, Goin-Kochel RP. {{Psychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: Are core features of autism spectrum disorder related?}}. {Autism}. 2013 Sep 12.
Psychotropic medication use and its relationship to autism spectrum core features were examined in a well-characterized but nonstratified North American sample (N = 1605) of children/adolescents diagnosed with autism spectrum disorders utilizing the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised, from the multisite Simons Simplex Collection. Analyses included (a) prevalence of psychotropic use (overall, and by classes), (b) correlations between prevalence of use and autism spectrum core features, age, and cognitive functioning, and (c) logistic regression to identify whether these factors were predictive of psychotropic use. Results indicated 41.7% ever used one or more classes of psychotropic medications, with attention deficit hyperactivity disorder medications used most. Small but significant correlations between psychotropic medication use and (a) social impairment (p < .001) and (b) repetitive behaviors (p < .001) were found. Overall, however, autism spectrum disorder core features are weakly related to medication use. Older children used more psychotropics (p < .001), and higher cognitive functioning was associated with less overall psychotropic use (p < .001). Logistic regression indicated that use of psychotropics was predicted by repetitive behaviors (both clinician-observed and parent-reported), age, and cognitive ability level. Limitations inherent to the Simons Simplex Collection sample, methodology, and the correlational analyses are discussed. Directions for future research include investigation of factors more influential than core symptoms on psychotropic treatment (e.g. parent perceptions, comorbid symptoms).
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7. Santa Maria L, Pugin A, Alliende MA, Aliaga S, Curotto B, Aravena T, Tang HT, Morales GM, Hagerman R, Tassone F. {{Fxtas In An Unmethylated Mosaic Male With Fragile X Syndrome From Chile}}. {Clinical genetics}. 2013 Sep 12.
Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated FM. Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated FMR1-mRNA expression levels and subsequent RNA toxicity.
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8. Siniscalco D, Cirillo A, Bradstreet JJ, Antonucci N. {{Epigenetic findings in autism: new perspectives for therapy}}. {International journal of environmental research and public health}. 2013;10(9):4261-73.
Autism and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, communications, restricted interests, and repetitive stereotypic behaviors. Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. However, accumulating evidence points to the involvement of epigenetic modifications as foundational in creating ASD pathophysiology. Epigenetic modifications or the alteration of DNA transcription via variations in DNA methylation and histone modifications but without alterations in the DNA sequence, affect gene regulation. These alterations in gene expression, obtained through DNA methylation and/or histone modifications, result from transcriptional regulatory influences of environmental factors, such as nutritional deficiencies, various toxicants, immunological effects, and pharmaceuticals. As such these effects are epigenetic regulators which determine the final biochemistry and physiology of the individual. In contrast to psychopharmacological interventions, bettering our understanding of how these gene-environmental interactions create autistic symptoms should facilitate the development of therapeutic targeting of gene expression for ASD biomedical care.
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9. Underwood E. {{Alarm over autism test}}. {Science (New York, NY)}. 2013 Sep 13;341(6151):1164-7.
