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Showing results for "Childhood interstitial lung disease "
Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
Energy drinks (EDs) claim to boost mental performance, however, few studies have examined the prospective effects of EDs on mental health. This study examined longitudinal associations between ED use and mental health symptoms in young adults aged 20 years over a 2-year period.
MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk
Exposure to racial discrimination in Aboriginal children increased the risk for a spectrum of interrelated factors linked to negative mental health
A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.
This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
With improvement in leukemia therapy, central nervous system (CNS) tumors are the leading cause of cancer mortality in children and the most expensive...
This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
The Language in Little Ones (LiLO) study is a five-year longitudinal study (2017-2021), funded through the National Health and Medical Research Council. The study investigates the quantity and quality of language exposure in the home environment during the first five years of a child’s life.