Publications by authors named "Janice E Brunstrom-Hernandez"
Objective: Children with cerebral palsy may benefit from maintaining a high level of physical fitness similar to typically developing children especially in terms of long-term physical performance, although in practice this is often difficult. The purpose of this study was to determine the effect of participation in sports programs on walking ability and endurance over time.
Design: A retrospective cohort study included participants with cerebral palsy, aged 6 to 20 yrs, who attended a summer sports program from 2004 to 2012.
Article Synopsis
- Recent findings suggest that specific mutations in genes related to ribosome function can lead to distinct human diseases.
- One such gene, SNORD118, encodes a small nucleolar RNA called U8, which is crucial for ribosome biogenesis.
- Mutations in SNORD118 lead to a rare condition known as leukoencephalopathy with calcifications and cysts (LCC), affecting individuals from early childhood to adulthood by disrupting U8 production and its role in maintaining healthy brain blood vessels.*
Objective: To characterize the population pharmacokinetics (PK) of oral baclofen and assess impact of patient-specific covariates in children with cerebral palsy (CP) in order to support its clinical use.
Subjects Design: Children (2-17 years of age) with CP received a dose of titrated oral baclofen from 2.5 mg 3 times a day to a maximum tolerated dose of up to 20 mg 4 times a day.
Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked disorder resulting from an impairment of the transcellular transportation of thyroid hormones. Within the central nervous system thyroid hormone transport is normally mediated by MCT8. Patients are described as affected by a static or slowly progressive clinical picture which consists of variable degrees of mental retardation, hypotonia, spasticity, ataxia and involuntary movements, occasionally paroxysmal.
View Article and Find Full Text PDFBackground: Range of motion deficits of the lower extremity occur in about the half of the children with spastic cerebral palsy (CP). Over time, these impairments can cause joint deformities and deviations in the children's gait pattern, leading to limitations in moblity. Preventing a loss of range of motion is important in order to reduce secondary activity limitations and joint deformities.
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