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No Evidence of Early Developmental Delay in Juvenile-Onset Huntington's Disease Patients.
Mov Disord Clin Pract
December 2024
Department of Psychiatry, Carver College of Medicine at the University of Iowa, Iowa City, Iowa, USA.
Background: Previous studies suggest that early developmental delay is a common feature of Juvenile-Onset Huntington's disease (JOHD), with highest incidence in those with very high CAG repeats (> 80). However, all reports of developmental delay in JOHD are exclusively based on retrospective review of medical charts. Comprehensive assessment of birth history metrics may provide better insight into the question of early life development in JOHD.
View Article and Find Full Text PDFNational Registry for Childhood Onset Scleroderma I: Insights from the first 341 juvenile localized scleroderma patients.
J Scleroderma Relat Disord
September 2024
University of Pittsburgh, Pittsburgh, PA, USA.
Objectives: There is an under recognition of juvenile-onset localized scleroderma and its extracutaneous manifestations leading to delay in systemic treatment. Our study aims to address this gap by describing the demographics, presentation, associated family history, concurrent autoimmune disease, extracutaneous manifestations, laboratory evaluation, treatment, and course of disease in juvenile-onset localized scleroderma patients enrolled in the National Registry for Childhood Onset Scleroderma.
Methods: Participants for this study were derived from the National Registry for Childhood Onset Scleroderma and included 341 patients with juvenile-onset localized scleroderma.
Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions.
Palliat Care Soc Pract
September 2024
The Dementia Centre, HammondCare, St Leonards, NSW, Australia.
Childhood dementias are a group of rare, fatal neurodegenerative disorders, characterised by global cognitive decline, loss of previously acquired developmental skills and behaviours and psychological symptoms of dementia (BPSD). Batten disease, or neuronal ceroid lipofuscinosis, and Sanfilippo syndrome, or mucopolysaccharidosis type III, are two of the more common forms of childhood dementia disorders worldwide. While psychosocial interventions are the best available therapeutic approach for BPSD management in adult-onset dementia, there is very limited literature or clinical experience in the context of childhood dementia.
View Article and Find Full Text PDFWolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.
Medicina (Kaunas)
June 2024
Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania.
: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus (DI), and sensorineural deafness (D), often referred to by the acronym DIDMOAD. It is a severe neurodegenerative disease with a life expectancy of 39 years, with death occurring due to cerebral atrophy.
View Article and Find Full Text PDFA Study on Semaphorin 3A Level in Juvenile-onset Systemic Lupus Erythematosus Patients.
Curr Rheumatol Rev
July 2024
Pediatrics Department Misr University for Science and Technology, Cairo, Egypt.
Background: Juvenile-onset systemic lupus erythematosus (jSLE) is an uncommon yet severe autoimmune/inflammatory condition affecting multiple bodily systems, typically manifest-ing before the age of 18. This disease exhibits significant complexity, displaying considerable variation among patients. Its effects can range in severity from minor to fatal, characterized by a pattern of recurring flare-ups and periods of remission, making its natural progression difficult to predict.
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