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Showing results for "early childhood"
It is unclear whether sex differences in behavior arising from birth weight (BW) are genuine because of the cross-sectional nature and potential confounding in previous studies. We aimed to test whether sex differences associated with BW phenotype were reproducible using a Mendelian randomization approach, i.e., association between polygenic score (PGS) for BW and behavior outcomes across childhood and adolescence.
Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.
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.
Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Fetal androgens influence fetal growth as well as postnatal neurocognitive ability.
Nine researchers from The Kids Research Institute Australia have secured vital support through the WA Near Miss Awards, allowing them to continue innovative health projects that narrowly missed out on national funding.
The Wal-yan Respiratory Research Centre is proud to have a team of researchers taking part in, and contributing to, the outstanding scientific programme of the European Respiratory Society International Congress, taking place in Milan.
ORIGINS is Australia's largest longitudinal cohort study of its kind. Following 10,000 WA children from their time in the womb into early childhood, ORIGINS researchers are working to better understand when and why non-communicable diseases develop, and provide solutions for early intervention to ensure every child and family flourishes throughout their lifetime.
Childhood vaccination has played a critical role in the reduction of morbidity and mortality from communicable diseases, including specific respiratory pathogens