1. El-Rashidy O, El-Baz F, El-Gendy Y, Khalaf R, Reda D, Saad K. {{Ketogenic diet versus gluten free casein free diet in autistic children: a case-control study}}. {Metab Brain Dis};2017 (Aug 14)
Many diet regimens were studied for patients with autism spectrum disorder (ASD) over the past few years. Ketogenic diet is gaining attention due to its proven effect on neurological conditions like epilepsy in children. Forty-five children aged 3-8 years diagnosed with ASD based on DSM-5 criteria were enrolled in this study. Patients were equally divided into 3 groups, first group received ketogenic diet as modified Atkins diet (MAD), second group received gluten free casein free (GFCF) diet and the third group received balanced nutrition and served as a control group. All patients were assessed in terms of neurological examination, anthropometric measures, as well as Childhood Autism Rating Scale (CARS), Autism Treatment Evaluation Test (ATEC) scales before and 6 months after starting diet. Both diet groups showed significant improvement in ATEC and CARS scores in comparison to control group, yet ketogenic scored better results in cognition and sociability compared to GFCF diet group. Depending on the parameters measured in our study, modified Atkins diet and gluten free casein free diet regimens may safely improve autistic manifestations and could be recommended for children with ASD. At this stage, this study is a single center study with a small number of patients and a great deal of additional wide-scale prospective studies are however needed to confirm these results. TRIAL REGISTRATION NUMBER: UMIN-CTR Study Design: trial Number UMIN000021433.
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2. Hayward BE, Usdin K. {{Improved assays for AGG interruptions in Fragile X premutation carriers}}. {J Mol Diagn};2017 (Aug 14)
The learning disability fragile X syndrome results from the presence of >200 CGG/CCG-repeats in exon 1 of the X-linked gene FMR1. Such alleles arise by expansion from maternally transmitted FMR1 premutation alleles, alleles having 55 to 200 repeats. Expansion risk is directly related to maternal repeat number. However, AGG interruptions to the repeat tract are important modifiers of expansion risk. Thus, the ability to identify such interruptions is crucial for the appropriate genetic counseling of women who are premutation carriers. First-generation triplet-primed PCR assays allow these interruptions to be detected. However, since the triplet primer used has multiple binding sites in the repeat tract, interpreting the results is not straightforward and it is not always possible to unambiguously determine the AGG-interruption status in females because of the difficulties associated with the presence of a second X chromosome. Interpretation is further complicated by any repeat size mosaicism that may be present. We have developed second-generation PCR assays that prime specifically at the interruptions. These assays are simpler to interpret and better able to evaluate this important determinant of expansion risk in women even in those with a mixture of premutation allele sizes.
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3. Pop B, Niculae AS, Pop TL, Rachisan AL. {{Individuals with autism have higher 8-Iso-PGF2alpha levels than controls, but no correlation with quantitative assay of Paraoxonase 1 serum levels}}. {Metab Brain Dis};2017 (Aug 14)
Autism spectrum disorder (ASD) represents a very large set of neurodevelopmental issues with diverse clinical outcomes. Various hypotheses have been put forth for the etiology of autism spectrum disorder, including issues pertaining to oxidative stress. In this study, we conducted measurements of serum 8-Iso-Prostaglanding F2 alpha (8-iso-PGF2alpha, which is the results of non-enzimatically mediated polyunsaturated fatty acid oxidation) in a population of individuals with autism and a control group of age and sex matched controls. A quantitative assay of Paraoxonase 1 (PON1) was conducted. Data regarding comorbidities, structural MRI scans, medication, intelligence quotient (IQ) and Childhood Autism Rating Scale scores (CARS) were also included in our study. Our results show that patients diagnosed with autism have higher levels of 8-iso-PGF2alpha than their neurotypical counterparts. Levels of this particular metabolite, however, do not correlate with quantitative serum levels of Paraoxonase 1, which has been shown to be altered in individuals with autism. Neither 8-iso-PGF2alpha nor quantitative levels of PON1 provide any meaningful correlation with clinical or neuroimaging data in this study group. Future research should focus on providing data regarding PON 1 phenotype, in addition to standard quantitative measurements, in relation to 8-iso-PGF2alpha as well as other clinical and structural brain findings.
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4. Bacon EC, Courchesne E, Barnes CC, Cha D, Pence S, Schreibman L, Stahmer AC, Pierce K. {{Rethinking the idea of late autism spectrum disorder onset}}. {Dev Psychopathol};2017 (Aug 14):1-17.
A common theory of autism spectrum disorder (ASD) symptom onset includes toddlers who do not display symptoms until well after age 2, which are termed late-onset ASD cases. Objectives were to analyze differences in clinical phenotype between toddlers identified as ASD at initial evaluations (early diagnosed) versus those initially considered nonspectrum, then later identified as ASD (late diagnosed). Two hundred seventy-three toddlers recruited from the general population based on a failed developmental screening form or parent or physician concerns were followed longitudinally from 12 months and identified as early- and late-diagnosed cases of ASD, language delayed, or typically developing. Toddlers completed common standardized assessments and experimental eye-tracking and observational measures every 9-12 months until age 3. Longitudinal performance on standardized assessments and experimental tests from initial evaluations were compared. Delay in social communication skills was seen in both ASD groups at early-age initial assessment, including increased preference for nonsocial stimuli, increased stereotypic play, reduced exploration, and use of gestures. On standardized psychometric assessments, early-diagnosed toddlers showed more impairment initially while late-diagnosed toddlers showed a slowing in language acquisition. Similar social communication impairments were present at very early ages in both early-detected ASD and so-called late-onset ASD. Data indicate ASD is present whether detected or not by current methods, and development of more sensitive tools is needed.
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5. Collins K, Staples K. {{The role of physical activity in improving physical fitness in children with intellectual and developmental disabilities}}. {Res Dev Disabil};2017 (Aug 14);69:49-60.
BACKGROUND: One in three children in North America are considered overweight or obese. Children with intellectual and developmental disabilities (IDD) are at an increased risk for obesity than their typically developing peers. Decreased physical activity (PA) and low physical fitness may be contributing factors to this rise in obesity. AIM: Because children with IDD are at an increased risk of diseases related to inactivity, it is important to improve health-related physical fitness to complete activities of daily living and improve health. METHODS AND PROCEDURES: The focus of this research is on improving the performance of physical fitness components through physical activity programming among a group of children with IDD, ages 7-12 years. The Brockport Physical Fitness Test was used assess levels of physical fitness of 35 children with IDD (25 boys, 10 girls) before and after participation in a 10-week program. OUTCOMES AND RESULTS: The results of paired sampled t-tests showed participation in 15-h PA program can significantly increase aerobic capacity and muscular strength and endurance in children with IDD. CONCLUSIONS AND IMPLICATIONS: This study is aimed at understanding the role of PA in helping children with IDD to develop the fitness capacities essential to participation in a wide variety of activities.
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6. Parsons D, Cordier R, Vaz S, Lee HC. {{Parent-Mediated Intervention Training Delivered Remotely for Children With Autism Spectrum Disorder Living Outside of Urban Areas: Systematic Review}}. {J Med Internet Res};2017 (Aug 14);19(8):e198.
BACKGROUND: Parent training programs for families living outside of urban areas can be used to improve the social behavior and communication skills in children with autism spectrum disorder (ASD). However, no review has been conducted to investigate these programs. OBJECTIVE: The aim of this study was to (1) systematically review the existing evidence presented by studies on parent-mediated intervention training, delivered remotely for parents having children with ASD and living outside of urban areas; (2) provide an overview of current parent training interventions used with this population; (3) and provide an overview of the method of delivery of the parent training interventions used with this population. METHODS: Guided by the preferred reporting items for systematic reviews and meta-analyses (PRISMA) statement, we conducted a comprehensive review across 5 electronic databases (CINAHL, Embase, ERIC, PsycINFO, and Pubmed) on July 4, 2016, searching for studies investigating parent-mediated intervention training for families living outside of urban centers who have a child diagnosed with ASD. Two independent researchers reviewed the articles for inclusion, and assessment of methodological quality was based on the Kmet appraisal checklist. RESULTS: Seven studies met the eligibility criteria, including 2 prepost cohort studies, 3 multiple baseline studies, and 2 randomized controlled trials (RCTs). Interventions included mostly self-guided websites: with and without therapist assistance (n=6), with training videos, written training manuals, and videoconferencing. Post intervention, studies reported significant improvements (P<.05) in parent knowledge (n=4), parent intervention fidelity (n=6), and improvements in children's social behavior and communication skills (n=3). A high risk of bias existed within all of the studies because of a range of factors including small sample sizes, limited use of standardized outcome measures, and a lack of control groups to negate confounding factors. CONCLUSIONS: There is preliminary evidence that parent-mediated intervention training delivered remotely may improve parent knowledge, increase parent intervention fidelity, and improve the social behavior and communication skills for children with ASD. A low number of RCTs, difficulty in defining the locality of the population, and a paucity of standardized measures limit the generalization of the findings to the target population. Future studies should investigate the appropriateness and feasibility of the interventions, include RCTs to control for bias, and utilize standard outcome measures. Lien vers le texte intégral (Open Access ou abonnement)
