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Parents' Experiences and Views About Use of Wearable Technology for Research and Treatment Monitoring of Children with Neurodevelopmental Disorders.
J Dev Behav Pediatr
January 2025
Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
Objective: Wearable technology has potential benefits for clinical measurement with children who have neurodevelopmental disorders (NDDs). However, this cohort may experience sensory processing disorder, behavioral dysregulation, and cognitive challenges. For effective and considerate implementation, the experiences and views of parents of children with NDDs on this topic need in-depth investigation.
View Article and Find Full Text PDFAberrant acetylation caused by a CDYL splicing mutation contributes to thin mid-piece related asthenoteratozoospermia and male infertility.
Andrology
January 2025
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Objectives: Acetylated tubulin is a hallmark of flagellar stability in spermatozoa, and studies have demonstrated the ability of CDYL to function as a tubulin acetyltransferase in spermatozoa. Of note, germline conditional knockout of Cdyl can lead to asthenoteratozoospermia and infertility in male mice. However, the role of CDYL gene in human fertility remains uncharacterized.
View Article and Find Full Text PDFEstimating disease onset distribution functions in mutation carriers with censored mixture data.
J R Stat Soc Ser C Appl Stat
January 2014
Columbia University, New York, USA.
We consider non-parametric estimation of disease onset distribution functions in multiple populations by using censored data with unknown population identifiers. The problem is motivated from studies aiming at estimating the age-specific disease risk distribution in deleterious mutation carriers for genetic counselling and design of therapeutic intervention trials to modify disease progression (i.e.
View Article and Find Full Text PDFGenotype-Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis.
Neuropathol Appl Neurobiol
February 2025
Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong, China.
Background: Progressive external ophthalmoplegia (PEO) is a classic manifestation of mitochondrial disease. However, the link between its genetic characteristics and clinical presentations remains poorly investigated.
Methods: We analysed the clinical, pathological and genetic characteristics of a large cohort of patients with PEO, based on the type of their mtDNA variations.
An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome.
Am J Med Genet A
January 2025
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, US.
The American Academy of Pediatrics (AAP) health supervision guidelines for children with Down syndrome are important for preventative and symptom-based care. Studies, however, have shown low overall adherence to these care recommendations due to a lack of provider familiarity, inaccessibility of a medical home, and caregiver burden. In a population of children with Down syndrome, using a retrospective chart review, we evaluated overall patient adherence to the medical components of the 2011 AAP guidelines, along with potential influencing factors, to determine if there was a difference in adherence between those who had genetic counseling and those who had not.
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