Pubmed du 11/10/21
1. Bennett HJ, Ringleb SI, Bobzien J, Haegele JA. Are Gait Biomechanics Related to Physical Activity Engagement? An Examination of Adolescents with Autism Spectrum Disorder. Medicine and science in sports and exercise. 2022; 54(3): 447-55.
PURPOSE: Adolescents with autism spectrum disorder (ASD) rarely meet physical activity (PA) guidelines, thus not reaping associated health benefits. Although many barriers exist, abnormal or inefficient gait biomechanics could negatively impact engagement in PA. This study has two purposes: first, to compare total body mechanical work between adolescents with ASD and neurotypical age-, sex-, and body mass index-matched controls, and second to determine whether gait biomechanics are significantly related to engagement in PA. METHODS: Twenty-five adolescents (age, 13-18 yr) with ASD and 17 neurotypical controls (eight with ASD had no match) participated in the study. Three-dimensional motion capture and force platforms were used to record and analyze gait biomechanics at self-selected speeds and a standardized 1.3 m•s-1. Total body mechanical work (sum of joint works across lower extremity, low back, torso, and shoulders) was compared between groups (n = 17 for each) and speeds using a mixed model analysis of variance. Average daily light PA, moderate to vigorous PA, and total PA was recorded for the entire data set with ASD using triaxial accelerometers worn for 1 wk. Regression analyses were performed between work, stride time variability, speed, and stride length with each PA variable. RESULTS: Adolescents with ASD generated 9% more work compared with the controls (P = 0.016). Speed and stride length were significant regressors of light PA, moderate to vigorous PA, and total PA, explaining greater than 0.20 variance (P < 0.02 for all regressions). CONCLUSIONS: Although adolescents with ASD walked with significantly greater work, the complex full-body variable is not significantly related to engagement in PA. In agreement with research spanning multiple populations and ages, speed and stride length are indicative of PA engagement in adolescents with ASD.
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2. Gipson TT, Ramsay G, Ellison EE, Bene ER, Long HL, Oller DK. Early Vocal Development in Tuberous Sclerosis Complex. Pediatric neurology. 2021; 125: 48-52.
BACKGROUND: Our goal was to assess for the first time early vocalizations as precursors to speech in audio-video recordings of infants with tuberous sclerosis complex (TSC). METHODS: We randomly selected 40 infants with TSC from the TSC Autism Center of Excellence Research Network dataset. Using human observers, we analyzed 74 audio-video recordings within a flexible software-based coding environment. During the recordings, infants were engaged in developmental testing. We determined syllables per minute (volubility), the number of consonant-vowel combinations, such as ‘ba’ (canonical babbling), and the canonical babbling ratio (canonical syllables/total syllables) and compared the data with two groups of typically developing (TD) infants. One comparison group’s data had come from a laboratory setting, while the other’s had come from all-day Language Environment Analysis recordings at home. RESULTS: Compared with TD infants in laboratory and all-day Language Environment Analysis recordings, entry into the canonical babbling stage was delayed in the majority of infants with TSC, and the canonical babbling ratio was low (TD mean = 0.346, SE = 0.19; TSC mean = 0.117, SE = 0.023). Volubility level in infants with TSC was less than half that of TD infants (TD mean = 9.82, SE = 5.78; TSC mean = 3.99, SE = 2.16). CONCLUSIONS: Entry into the canonical stage and other precursors of speech development were delayed in infants with TSC and may signal poor language and developmental outcomes. Future studies are planned to assess prediction of language and developmental outcomes using these measures in a larger sample and in more precisely comparable recording circumstances.
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3. Kalyanasundaram M. Safety and efficacy of larger ASD devices in small children of less than 2 years. Indian heart journal. 2021; 73(5): 637-9.
We herein report our single center experience of safety and efficacy of device closure of large sized ostium secundum atrial septal defects (OS ASD) in small children with less than 2 years of age performed over the period of 10 years from 2009 to 2019.148 symptomatic children with ASD size of more than 8 mm were included in our study. We obtained a high rate of successful deployment (98 %) with no major complications.
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4. Pandey B, Belnap N, Balak C, Huentelman M, Ramsey K, Narayanan V, Plotnik J. Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2021; 25(6): 370-3.
Cerebellar-facial-dental syndrome (CFDS) is a newly described autosomal recessive genetic disorder characterized by mutations in the BRF1 gene. CFDS is clinically associated with dysmorphic facial features and cerebellar hypoplasia. We report visually significant progressive bilateral nuclear cataracts in a child with CFDS and identify a new causative genetic variant.
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5. Rodriguez-Gomez DA, Garcia-Guaqueta DP, Charry-Sánchez JD, Sarquis-Buitrago E, Blanco M, Velez-van-Meerbeke A, Talero-Gutiérrez C. A systematic review of common genetic variation and biological pathways in autism spectrum disorder. BMC neuroscience. 2021; 22(1): 60.
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. Common genetic variation appears to play a key role in the development of this condition. In this systematic review, we describe the relationship between genetic variations and autism. We created a gene dataset of the genes involved in the pathogenesis of autism and performed an over-representation analysis to evaluate the biological functions and molecular pathways that may explain the associations between these variants and the development of ASD. RESULTS: 177 studies and a gene set composed of 139 were included in this qualitative systematic review. Enriched pathways in the over-representation analysis using the KEGG pathway database were mostly associated with neurotransmitter receptors and their subunits. Major over-represented biological processes were social behavior, vocalization behavior, learning and memory. The enriched cellular component of the proteins encoded by the genes identified in this systematic review were the postsynaptic membrane and the cell junction. CONCLUSIONS: Among the biological processes that were examined, genes involved in synaptic integrity, neurotransmitter metabolism, and cell adhesion molecules were significantly involved in the development of autism.
