Pubmed du 10/03/24
1. Chen H, Zhang C, Zhou B, Wang Y, Chen X, Hui L. [Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2024 (Mar 10);41(3):363-367.
OBJECTIVE: To explore the genetic basis for a patient with unexplained developmental delay and special facial features. METHODS: A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing. RESULTS: The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c.1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents. CONCLUSION: The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.
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2. Imanpour S, Ullah R. Barriers and mediators for routine dental care visits from the experiences of immigrant parents of autistic children living in the United States. Spec Care Dentist;2024 (Mar 10)
INTRODUCTION: Immigrants are reluctant to attend routine dental care visits. Moreover, children with autism have a higher chance of developing periodontal disease. In this study, we describe the experiences of immigrant parents with autistic children and the barriers and mediators to routine dental care visits for their children in the United States. METHOD: We conducted semistructured interviews with 19 immigrants who have children with autism. RESULTS: We found that lack of transportation, support system, and insurance; prioritization of basic needs; and a mistrust of healthcare providers are the main barriers to attending routine dental care visits for autistic children of immigrant parents. Moreover, staff who consider the needs of children with autism, spend ample time with children with autism, and help with navigating the health system can improve access to routine dental care visits for autistic children with immigrant parents. This study found that despite their immigration status, all parents want to see improvements in the oral health of their children with special needs. CONCLUSION: This study aimed to unpack the structural barriers and mediators to routine dental care visits for autistic children of immigrant parents. We found that removing structural barriers to care and utilizing mediators will enhance the outcome of routine dental care, resulting in healthier oral hygiene.
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3. Kempner K, Dixon MW, Failla MD, Hadley S, Worthen-Chaudhari L. Structured, Creative Dance Classes for Children with Developmental Disabilities: A Pilot Study of Feasibility and Preliminary Effect on Motor Function. J Dance Med Sci;2024 (Mar 10):1089313×241237007.
INTRODUCTION: Promoting physical wellness for preschool-aged children with developmental disorders (DD) is a known challenge. Interventions are more likely to succeed when physical activity opportunities are available to children within the context of their typical environments. We evaluated the feasibility and preliminary effect of 1 potential solution: structured creative dance classes delivered within a preschool environment. METHODS: Using a non-randomized feasibility study design, we offered physical activity in the form of creative dance classes for children with and without DD within an inclusive preschool. Classes lasted 30 minutes and were held once a week or 7 weeks. We measured attendance (primary), observed active participation (% of class duration), and balance (Pediatric Balance Scale). Non-parametric descriptive statistics are expressed as median (interquartile range). Balance was evaluated regarding (a) difference between groups at baseline (Mann-Whitney statistic) and (b) intervention effect for children with DD (1-tailed, paired t-test). RESULTS: Twelve preschoolers (age range = 3-5 years) participated: 4 with DD and 8 with neurotypical development. Attendance was 93% (79%-100%) for children with and 100% for children without DD. Per class, rate of active participation in dance activity was 33% (28%-45%) for children with and 80% (71%-82%) for children without DD. Starting balance scores were lower (P = .014) for children with DD (42 (39-45)) compared to those without (51 (50-52)). Post-intervention, balance scores improved for the children with DD to 50 (50-51) (df = 3, p = .014, t-statistic = 2.35); each child with DD surpassed minimal detectable change for balance. CONCLUSION: Creative dance classes, delivered within an inclusive preschool environment, are feasible for some preschool-aged children with DD to participate in and efficacious as a physical training challenge at low activity doses. More study is warranted of this potential solution to meet the need for physical wellness promotion among young children with DD.
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4. Liu J, Zhang J, Shen Y, Li Y, Luo H, Gan J. [Analysis of a child featuring global developmental delay and autism due to variant of TBR1 gene and a literature review]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2024 (Mar 10);41(3):335-338.
OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with global developmental delay and autism. METHODS: A child who had presented at West China Second University Hospital of Sichuan University on April 13, 2021 was selected as the study subject. Clinical manifestations, laboratory examination and result of genetic testing were analyzed. RESULTS: The main symptoms of the child had included cognitive, language and motor delay, autism and epilepsy. Electroencephalogram revealed multiple focal discharges in both waking and sleeping stages, with the remarkable one seen at the sleeping stage. Cranial MRI showed pachygyria and local cortical thickening, Whole exome sequencing (WES) revealed that the child has harbored a heterozygous c.1589_1595dup (p.Gly533Leufs*143) frameshifting variant in the TBR1 gene (OMIM 604616). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PS2+PVS1_Supporting+PM2_Supporting). After treated with levetiracetam and rehabilitation training, the child did not have seizure in the past 5 months, and his motor development has also significantly improved. CONCLUSION: The c.1589_1595dup variant of the TBR1 gene probably underlay the disease in this patient.
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5. O’Sharkey K, Meng Q, Mitra S, Paik SA, Liu J, Shen J, Thompson LK, Chow T, Su J, Cockburn M, Weichenthal S, Paulson SE, Jerrett M, Ritz B. Associations between brake and tire wear-related PM(2.5) metal components, particulate oxidative stress potential, and autism spectrum disorder in Southern California. Environ Int;2024 (Mar 10);185:108573.
BACKGROUND: Air pollution is a global health concern, with fine particulate matter (PM(2.5)) constituents posing potential risks to human health, including children’s neurodevelopment. Here we investigated associations between exposure during pregnancy and infancy to specific traffic-related PM(2.5) components with Autism Spectrum Disorder (ASD) diagnosis. METHODS: For exposure assessment, we estimated PM(2.5) components related to traffic exposure (Barium [Ba] as a marker of brake dust and Zinc [Zn] as a tire wear marker, Black Carbon [BC]) and oxidative stress potential (OSP) markers (Hydroxyl Radical [OP(OH)] formation, Dithiothreitol activity [OP(DTT)], reactive oxygen species [ROS]) modeled with land use regression with co-kriging based on an intensive air monitoring campaign. We assigned exposures to a cohort of 444,651 children born in Southern California between 2016 and 2019, among whom 11,466 ASD cases were diagnosed between 2018 and 2022, Odds ratios (ORs) and 95% confidence intervals (CIs) were obtained with logistic regression for single pollutant and PM(2.5) mass co-adjusted models, also adjusting for sociodemographic characteristics. RESULTS: Among PM(2.5) components, we found the strongest positive association with ASD for our brake wear marker Ba (OR(per IQR) = 1.29, 95 % CI: 1.24, 1.34). This was followed by an increased risk for all PM(2.5) oxidative stress potential markers; the strongest association was with ROS formation (OR(per IQR) = 1.22, 95 % CI: 1.18, 1.25). PM(2.5) mass was linked to ASD in Hispanic and Black children, but not White children, while traffic-related PM(2.5) and OSP markers increased ASD risk across all groups. In neighborhoods with the lowest socioeconomic status (SES), associations with ASD were stronger for all examined pollutants compared to higher SES areas. CONCLUSIONS: Our findings suggest that brake wear-related PM(2.5) and PM(2.5) OSP are associated with ASD diagnosis in Southern California. These results suggest that strategies aimed at reducing the public health impacts of PM(2.5) need to consider specific sources.
