Aim: To evaluate the health-related quality of life (HRQOL) and intellectual functioning of children in remission from acute lymphoblastic leukaemia (ALL).
Methods: Children and adolescents treated for ALL (n = 40; mean age 11.8 years, range 8.5-15.4) and healthy controls (n = 42; mean age 11.8, range 8.11-15.0) were assessed through a cross-sectional approach using the Pediatric Quality of Life inventory (PedsQL) 4.0 and the Wechsler Intelligent Scale for children-III (WISC-III).
Results: Children and adolescents treated for ALL reported on average significantly lower HRQOL compared to healthy controls: the mother's proxy-report showed significantly lower HRQOL for their children, as did the father's proxy-report, measured by the PedsQL 4.0 Total Scale and Psychosocial Health Scale. Intellectual functioning as measured by the WISC-III Full Scale IQ was below that of the control group, but still within the normal range.
Conclusions: Significant differences found between children treated for ALL and their control group for the PedsQL Psychosocial Health Scale may indicate that the complex illness-treatment experience can make children more vulnerable with regard to psychosocial sequels, in spite of otherwise satisfactory physical and intellectual functioning. Follow-up programs that target the psychosocial health of children in remission from ALL should be implemented.
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http://dx.doi.org/10.1111/j.1651-2227.2007.00383.x | DOI Listing |
Biomarkers that aid in early detection of neurodegeneration are needed to enable early symptomatic treatment and enable identification of people who may benefit from neuroprotective interventions. Increasing evidence suggests that sleep biomarkers may be useful, given the bi-directional relationship between sleep and neurodegeneration and the prominence of sleep disturbances and altered sleep architectural characteristics in several neurodegenerative disorders. This study aimed to demonstrate that sleep can accurately characterize specific neurodegenerative disorders (NDD).
View Article and Find Full Text PDFEur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Behav Brain Funct
December 2024
Department of Pharmacology, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama, 359-8513, Japan.
The large-conductance calcium- and voltage-activated potassium (BK) channels, encoded by the KCNMA1 gene, play important roles in neuronal function. Mutations in KCNMA1 have been found in patients with various neurodevelopmental features, including intellectual disability, autism spectrum disorder (ASD), or attention deficit hyperactivity disorder (ADHD). Previous studies of KCNMA1 knockout mice have suggested altered activity patterns and behavioral flexibility, but it remained unclear whether these changes primarily affect immediate behavioral adaptation or longer-term learning processes.
View Article and Find Full Text PDFBMC Pediatr
December 2024
School of Physical Education, Shanghai University of Sport, 399 Changhai Road, Shanghai, 200438, P. R. China.
Background: Children with intellectual disabilities (ID) typically exhibit low levels of physical activity (PA) and delayed motor skills. Understanding the motor skill factors that influence PA participation in this population is essential for designing effective interventions. The purpose of this study was to examine the association between fundamental motor skills (FMS) and objectively measured PA among orphan children with severe ID residing in welfare institutions.
View Article and Find Full Text PDFCerebellum
December 2024
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.
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