Background: Children with disabilities receiving long-term enteral nutrition (EN) frequently struggle with feeding issues. This study aims to develop and validate a questionnaire to assess tube feeding challenges and nutritional problems among this group of children.
Methods: In this survey-based study, data was collected via an online survey of mothers or caregivers of children with disabilities receiving long-term EN. The questionnaire was prepared following a literature analysis of nasogastric, gastrostomy and jejunostomy-related complications in children. The validation of the tool was conducted with three experts in the field, followed by its translation into Arabic. It was then pilot-tested on six mothers of children with disabilities who receive long-term EN. The reliability of the questionnaire was assessed using Cronbach's-alpha coefficient and measurement of test-retest inter-rater reliability.
Results: Twenty-four children were included in this study; their median age was 4.7 years. The value of Cronbach's-alpha (α = 0.742) suggested good reliability of the tool items among the study sample. The test-retest reliability assessed by correlation coefficients showed a strong correlation for most items; the r-value of the overall tool was 0.922, < 0.001.
Conclusion: Strong test-retest reliability was demonstrated by the developed EN feeding problem questionnaire. Suggesting that the questionnaire is reliable and valid for utilisation in children with disabilities.
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http://dx.doi.org/10.2147/RMHP.S502223 | DOI Listing |
Mol Genet Genomic Med
March 2025
Department of Medical Genetics, University of British Columbia (UBC), Vancouver, British Columbia, Canada.
Background: While recently identified heterozygous PRPF8 variants have been linked to various human diseases, their role in neurodevelopmental disorders (NDDs) remains ambiguous. This study investigates the potential association between homozygous PRPF8 variants and NDDs. Most PRPF8 variants are primarily associated with retinal diseases; however, we analyze a family with multiple members diagnosed with NDDs.
View Article and Find Full Text PDFEpidemiol Prev
March 2025
Service of Hygene and Public Health (SISP), Local Health Unit 'Roma 5', Guidonia Montecelio, Rome (Italy).
Objectives: to describe the 'IDA' study, which aims to estimate the prevalence of School Readiness Vulnerability (SRV) in children at the beginning of primary school and the associated socioeconomic characteristics, to stimulate the attention of decision-makers on the consequences of the COVID-19 pandemic and the need for specific and timely interventions by the school community, thus preventing negative effects on children's present and future health.
Design: cross-sectional study based on a random sample of children extracted using the cluster sampling technique on the first primary school classes.
Setting And Participants: in October 2022, the IDA study assessed the SRV prevalence and associated risk factors in 628 children of the Lazio Region, aged 67-89 months, 328 males and 292 females.
Front Pediatr
February 2025
Department of Primary Care, Ohio University Heritage College of Osteopathic Medicine, Athens, OH, United States.
Children with neurodevelopmental disabilities living in rural and low-resourced regions within the United States, such as Appalachia, face gaps and barriers to accessing healthcare services due to a shortage of providers, specialists, hospitals, and clinics. Without access to specialized medical and rehabilitation services, their performance across developmental domains and participation within their communities is likely suboptimal. The purpose of this study was to identify both intrinsic and extrinsic factors using a mixed-methods approach to better understand factors that may impact performance across developmental domains and participation for children with disabilities living in Appalachia.
View Article and Find Full Text PDFFront Neurol
February 2025
Department of Child and Adolescent Health, School of Public Health, Guangdong Pharmaceutical University, Guangzhou, China.
Objective: To examine the association of ADHD and LD with visual impairment, uncorrected refractive error, and refractive error (myopia, hyperopia, and astigmatism) among US children and adolescents.
Method: A population-based cross-sectional study included 3,385 participants aged 12-15 years from the large, representative sample of US NHANES. The diagnoses of ADHD and LD in children and adolescents, as reported by parents or adolescents themselves, were analyzed.
Front Psychiatry
February 2025
Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Background: FOXP1 syndrome is a genetic neurodevelopmental disorder associated with complex clinical presentations including global developmental delay, mild to profound intellectual disability, speech and language impairment, autism traits, attention-deficit/hyperactivity disorder (ADHD), and a range of behavioral challenges. To date, much of the literature focuses on childhood symptoms and little is known about the FOXP1 syndrome phenotype in adolescence or adulthood.
Methods: A series of caregiver interviews and standardized questionnaires assessed psychiatric and behavioral features of 20 adolescents and adults with FOXP1 syndrome.
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