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Showing results for "early life"
Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion.
Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
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...
ORIGINS has a large number of sub-projects exploring the link between a mother's diet during pregnancy and health outcomes of the child. Projects also explore nutrition and eating habits during the early years as well as general gut health
The hearts of everyone at The Kids go out to the family and friends of Lachlan Hernaman, a long-term participant in lung health research who died suddenly on April 30.
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.
The delay in community transmission of the new Coronavirus in WA, together with the strict, social distancing measures that have been adopted, provide us with an opportunity to observe the level of immunity development to the virus within the community and assess the impact of COVID-19 pandemic on health and well-
Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.