Objectives: This study aimed to explore the experiences of parents caring for children with intellectual and developmental disabilities (IDD) during the UK national lockdown in spring 2020, resulting from the COVID-19 pandemic.
Design: Participants were identified using opportunity sampling from the IMAGINE-ID national (UK) cohort and completed an online survey followed by a semistructured interview. Interviews were analysed using thematic analysis.
Setting: Interviews were conducted over the telephone in July 2020 as the first UK lockdown was ending.
Participants: 23 mothers of children with intellectual and developmental disabilities aged 5-15 years were recruited.
Results: Themes reported by parents included: managing pre-existing challenges during a time of extreme change, having mixed emotions about the benefits and difficulties that arose during the lockdown and the need for appropriate, individualised support.
Conclusions: Our findings confirm observations previously found in UK parents of children with IDD and provide new insights on the use of technology during the pandemic for schooling and healthcare, as well as the need for regular check-ins.
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http://dx.doi.org/10.1136/bmjopen-2021-049386 | DOI Listing |
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFJ Appl Res Intellect Disabil
January 2025
College of Public Health Medical and Veterinary Sciences, James Cook University, Townsville, Australia.
Background: Sexual well-being significantly impacts the overall quality of life for individuals with and without intellectual disabilities. Notably, parents play a pivotal role in influencing their children's sexual development, and their attitudes towards this topic are shaped by Chinese sociocultural values.
Methods: This study employed Interpretative phenomenological analysis to explore the experiences and attitudes of five individuals with intellectual disabilities and seven parents/caregivers regarding the sexual needs of their adult offspring with intellectual disabilities.
Early Hum Dev
January 2025
Division of Neonatology, Department of Maternal, Fetus and Perinatal Center, Saitama Children's Medical Center, Saitama, Japan.
Background: Hypoxic-ischemic encephalopathy (HIE) is still associated with death and sequelae including cerebral palsy and intellectual disability despite induced hypothermia. Biomarkers, as early predictive indicators of adverse outcomes, are lacking.
Aims: To investigate whether post-rewarming cerebrospinal fluid (CSF)-neuro-specific enolase (NSE) levels after hypothermia are associated with neurodevelopmental outcomes at age six years, alone or when combined with amplitude-integrated electroencephalography (aEEG) and brain magnetic resonance imaging (MRI), as neuroimaging and neurophysiological indicators, respectively.
Medicine (Baltimore)
January 2025
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
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