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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.

To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL.

Glenn Martyn Pearson Symons BA (Education) PhD Candidate B.A. (Hons) PhD. Director of First Nations Strategy and Leadership; Head, First Nations

These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder

There is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability

For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing

Almost half of stillbirths could be potentially identified antenatally based on a combination of factors

Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months

We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations

People with intellectual disability fall at a younger age compared with the broader community