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CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks
To reduce peanut allergy prevalence, infant feeding guidelines now recommend introducing peanuts in an age-appropriate form (such as peanut butter) as part of complementary feeding. However, due to a lack of randomized trial evidence, most infant feeding and food allergy prevention guidelines do not include tree nuts. The aims of this trial were to determine safety and feasibility of dosage consumption recommendations for infant cashew nut spread introduction.
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
We generated updated estimates of child mortality in various age groups for 188 countries from 1970 to 2013.
In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
Are you listening? The inaugural OMOZ Workshop - towards a better understanding of otitis media
The first global review of the effectiveness of current strategies to fight tuberculosis has found preventive therapy is the most effective intervention strategy.
A study confirming Aboriginal children are now 10 times more likely than non-Aboriginal children to be placed in out-of-home care has prompted researchers to call for urgent action to prevent further intergenerational trauma.
Ingestion of prebiotics during pregnancy and lactation may have immunomodulatory benefits for the developing fetal and infant immune system and provide a potential dietary strategy to reduce the risk of allergic diseases. We sought to determine whether maternal supplementation with dietary prebiotics reduces the risk of allergic outcomes in infants with hereditary risk.