AI Article Synopsis
Article Abstract
Purpose: To collect information about the needs of families affected by childhood-onset dystrophinopathies residing in the United States.
Methods: Individuals with an eligible dystrophinopathy were identified by the Muscular Dystrophy Surveillance, Tracking, and Research network. Between September 2008 and December 2012, 272 caregivers completed a 48-item survey about needs related to information, healthcare services, psychosocial issues, finances, caregiver demographics, and the individual's functioning.
Results: Overall, at least 80% of the survey items were identified as needs for more than one-half of caregivers. Among the needs identified, physical health and access to information were currently managed for most caregivers. Items identified as needed but managed less consistently were funding for needs not covered by insurance and psychosocial support.
Conclusions: Healthcare providers, public health practitioners, and policymakers should be aware of the many needs reported by caregivers, and focus on addressing gaps in provision of needed financial and psychosocial services.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399767 | PMC |
| http://dx.doi.org/10.1177/2050312119834470 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Fibronectin Glomerulopathy Without Typical Renal Biopsy Features in a 4-Year-Old Girl with Incidentally Discovered Proteinuria and a G417V Gene Mutation.
Int J Mol Sci
January 2025
Department of Pathology, Albert Szent-Györgyi Medical Center, Faculty of Medicine, University of Szeged, 6720 Szeged, Hungary.
Fibronectin glomerulopathy (FG) is caused by fibronectin 1 () gene mutations. A renal biopsy was performed on a 4-year-old girl with incidentally discovered proteinuria (150 mg/dL); her family history of renal disease was negative. Markedly enlarged glomeruli (mean glomerular diameter: 196 μm; age-matched controls: 140 μm), α-SMA-positive and Ki-67-positive mesangial cell proliferation (glomerular proliferation index 1.
View Article and Find Full Text PDFRisk of renal complications and death in young and middle-aged Swedes with parental type 1 diabetes: a nation-wide, prospective cohort study.
BMJ Open Diabetes Res Care
January 2025
Department of Clinical Sciences, Pediatrics, Umeå University, Umea, Sweden.
Introduction: This study aimed to investigate if individuals with childhood-onset type 1 diabetes having a parent with the same condition (parental diabetes) had worse metabolic control and an increased risk of death and renal failure compared with those with parents without type 1 diabetes (sporadic diabetes).
Research Design And Methods: We conducted a population-based cohort study using data from the Swedish Childhood Diabetes Register, including cases with onset of type 1 diabetes before the age of 15 and recorded between 1977 and 2010. The cohort was linked to national registers to compare mortality, renal failure, and glycated hemoglobin (HBA1c) levels.
C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
Eur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFThe Rise of Type 2 Diabetes in Children and Adolescents: An Emerging Pandemic.
Diabetes Metab Res Rev
January 2025
Department of Human Genetics, Guru Nanak Dev University, Amritsar, India.
Aim: This review explores the increasing prevalence of Type 2 Diabetes Mellitus (T2DM) in children and adolescents, focusing on its etiology, risk factors, complications, and the importance of early detection and management. It also highlights the need for a multidisciplinary, family-centered approach in managing T2DM in pediatric populations, with an emphasis on nutrition, exercise, and lifestyle interventions.
Materials And Methods: A literature review was conducted using PubMed, Google Scholar, and Scopus to incorporate studies from 2015 to 2024 on T2DM in youths/adolescents/children, focusing on epidemiology, risk factors, and prevention strategies.
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Mol Genet Genomics
December 2024
ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!