Pubmed du 30/12/21
1. Adorno ET, Dos Santos DCJ, DeJesus BM, Passos AA, Teixeira-Machado L. Dance, functioning and quality of life in children with Down syndrome and autism spectrum disorder dance, functioning and quality of life in Down syndrome and autism spectrum disorder. Clinical child psychology and psychiatry. 2021: 13591045211061795.
This study investigated dance practice in psychosocial and functional aspects, and quality of life in children with Down syndrome and autism spectrum disorder. Children with DS and ASD, between 3 and 12 years old, attended a dance program during 16 sessions/lessons, lasting 60 min, twice a week, in suitable place. Functional Independence Measure (FIM), Childhood Autism Rating Scale SF-36 quality of life survey, and Knowledge, Attitude and Practice Inquiry (KAP Inquiry) were applied before and after dance classes. Eleven participants concluded the study. Functional independence changes were observed in relation to self-care, sphincter control, locomotion, and communication domains. Children’ « quality of life » reported by parents showed changes in functional capacity, vitality, mental health, physical and social aspects, and general state of health domains. These findings suggest that regular dance practice can underlie psychosocial adjustments in children with DS and ASD.
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2. Alper M, Christiansen E, Allen AA, Mello S. Pediatric Media Guidance for Parents of Children on the Autism Spectrum: A Thematic Analysis. Health communication. 2021: 1-9.
Very little is known about pediatric media guidance, or the one-on-onse advice that medical and clinical professionals (MCPs) communicate to parents about their children’s recreational media and technology (RMT) use. One population that stands to benefit from a closer examination is children on the autism spectrum due to their behavior and communication challenges. We surveyed one group of pediatric autism MCPs, applied behavioral analysis (ABA) providers (N = 234), due to their proximity to families and conducted an applied thematic analysis of RMT advice they deliver. Providers reported primarily suggesting that caregivers employ restrictive parental mediation with their autistic child, that RMT should primarily be limited to use as a reward or reinforcement, and that parents should set time limits. Our findings offer new insights into the intersections of health communication theory and practice, while highlighting the need for greater research into RMT guidance for children with and without disabilities.
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3. Eilenberg JS, Kizildag D, Blakey AO, Cardona ND, Oberoi A, Broder-Fingert S, Feinberg E, Long KA. Implications of Universal Autism Screening: Perspectives From Culturally Diverse Families With False-Positive Screens. Academic pediatrics. 2022; 22(2): 279-88.
OBJECTIVE: The American Academy of Pediatrics (AAP) recommends that pediatricians screen all young children for autism spectrum disorder (ASD). However, the US Preventive Services Task Force stated that there is insufficient evidence about the potential harms and benefits of universal ASD screening. To address this gap, we conducted qualitative interviews with caregivers of children who received a false-positive ASD screen to learn about families’ perceptions of the harms and benefits of universal ASD screening. METHODS: Culturally diverse caregivers (N = 26) of children with false-positive ASD screens completed qualitative interviews focused on parents’ experiences with and recommendations to improve the ASD screening and evaluation process. Interviews were transcribed verbatim, coded, and analyzed using applied thematic analysis. RESULTS: Parents explained that the ASD screening and evaluation process increased their knowledge about child development and substantiated existing concerns. The ASD screening and evaluation process resulted in connecting their child to services, which parents felt led to improvements in their child’s delays. Parents endorsed anxiety during wait times for the formal developmental assessment. However, all parents expressed that, if given the option, they would repeat the screening and evaluation process again. Caregivers recommended universal screening for ASD and suggested that screening extend beyond the pediatrician to other settings. CONCLUSIONS: From parents’ perspectives, the connection to developmental services and increased knowledge of child development that resulted from the false-positive ASD screen outweighed the time-limited emotional distress triggered by a positive ASD screen. Overall, parents’ preferences for universal ASD screening align with the AAP’s recommendations.
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4. Huang K, Zhang Y, Zhao R, Hu S. [Advances in genetic research on autism spectrum disorders]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022; 39(1): 103-7.
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders. Patients usually exhibit certain degree of social interaction impairment in accompany with impairment in language development as well as repetitive behaviors or interests. In recent years, ASD-related variants, genes, functional pathways, and expression patterns in the brain have been discovered, along with advance in sequencing techniques. This article reviews various aspects of genetic research in association with ASD.
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5. Jang HN, Kim T, Jung AY, Lee BH, Yum MS, Ko TS. Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly. Medicine. 2021; 100(47): e27949.
FOXG1, located at chromosome 14q12, is critical for brain development, and patients with FOXG1 mutation exhibit developmental encephalopathy with high phenotypic variability, known as FOXG1 syndrome. Here, we report 3 cases of FOXG1 syndrome that presented with infantile hypotonia and microcephaly.A total of 145 children with developmental delay and/or hypotonia were evaluated by whole-exome sequencing (WES) in the pediatric neurology clinic and medical genetics center at Asan Medical Center Children’s Hospital, from 2017 to 2019. Each FOXG1 mutation was confirmed by Sanger sequencing. The clinical findings of each patient with FOXG1 mutation were reviewed.WES identified de-novo, pathogenic, and heterozygous FOXG1 mutations in 3 of 145 patients in our patient cohort with developmental delay and/or hypotonia. The characteristics of brain magnetic resonance imaging (MRI) were reported as callosal anomaly, decrease in frontal volume, fornix thickening, and hypoplastic olfactory bulbs. A phenotype-genotype correlation was demonstrated as a patient with a novel missense mutation, c.761A > C (p.Tyr254Ser), in the forkhead domain had better outcome and milder brain abnormalities than the other 2 patients with truncating mutation in the Groucho binding domain site, c.958delC (p.Arg320Alafs), or N-terminal domain, c.506dup (p.Lys170GlnfsThe). Importantly, all 3 patients had hypoplastic olfactory bulbs on their brain MRI, which is a distinct and previously unrecognized feature of FOXG1 syndrome.This is the first report of FOXG1 syndrome in a Korean population; this condition accounts for 2% (3 of 145 patients) of our patient cohort with developmental delays and/or hypotonia. Our report contributes to understanding this extremely rare genetic condition in the clinical and genetic perspectives.
