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Individuals with the CDKL5 disorder have been described as having severely impaired development.
Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
Affecting approximately 400 people in Australia, Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls and affects mobility and development, impacting everything from walking and talking to eating and breathing.
There is a greater prevalence of multiple sclerosis (MS), a neurological autoimmune condition, in populations living further from the equator, hypothesised to be due to reduced sunlight exposure. There exists a proven sunlight surrogate therapy for dermatological inflammatory conditions, in the form of narrowband NB-UVB phototherapy. Yet, there is a paucity of randomized trials of the therapeutic delivery of NB-UVB beyond dermatology for conditions with a systemic inflammatory component.
We aimed to investigate the long-term effects (12 years) of fish oil supplementation in pregnancy on neurodevelopment, including cognition, language and fine...
We help shape how the world responds to infectious diseases: guiding vaccine and treatment development, and advising on public health measures to control and eliminate disease. Our mathematical models capture how diseases spread, how severe infections are, and how childhood exposure shapes health across a lifetime.
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.
There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.
Keely Amy Tim Bebbington Finlay-Jones Jones MClinPsych/PhD BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MBBS DCH FRACP MD McCusker
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.