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High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome

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.

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.

We describe the choice-making abilities of girls and women with Rett syndrome.

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.

Perth's Telethon Institute for Child Health Research has been awarded more than 3 million dollars from the National Health and Medical Research Council (NHMRC)

Experiencing trauma may adversely impact a child’s education, and research in this field requires a deeper understanding about how those working in the education system, specifically pre-service teachers, can respond and support children impacted by trauma. Pre-service teachers, who are our future teachers, play a role in recognising and helping children when signs of trauma are revealed, but risk re-traumatising children if not adequately trained during their university education. 

Amy Carol Finlay-Jones Bower BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MBBS MSc PhD FAFPHM DLSHTM FPHA Head, Early

At The Kids Research Institute Australia, we have a dedicated and diverse team of over 1,000 staff, students and honorary researchers.

CliniKids is putting the ‘evidence’ in evidence-based practice by providing families access to the best scientific-backed therapies as quickly as possible so that all autistic children have the chance to reach their full potential.