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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.
Convenient, readily available and helping create a close and loving bond between baby and mother, breastfeeding is highly regarded for optimising infant health and preventing chronic disease in adulthood.
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.
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.
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.
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.
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.
Childhood vaccination has played a critical role in the reduction of morbidity and mortality from communicable diseases, including specific respiratory pathogens
Illuminate PitchFest is back! We are excited to introduce you to 10 trailblazing researchers who will be taking to the stage this February to pitch their bold and bright ideas.