A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

Abstract

The CDKL5 deficiency disorder (CDD) is a rare condition caused by spontaneous mutations on the cyclin‐dependent kinase‐like 5 (CDKL5) gene. It is a severe and complex disability that markedly affects the individual's health and wellbeing. This study aimed to identify the quality of life (QOL) domains important for individuals with CDD. Twenty‐five parents of individuals registered in the International CDKL5 Disorder Database participated in semi‐structured telephone interviews to explore areas that supported or challenged their child's QOL. Rett syndrome (RTT) is another severe genetically‐caused neurodevelopmental disorder but is generally less severe than CDD. Qualitative data were analysed using directed content analysis, based on previously identified QOL domains for RTT that related to health and wellbeing, daily activities and community immersion and services. Each of the domains identified for RTT was represented in the CDD dataset overall and when the dataset was divided into three age groups: 3–5 years old; 6–18 years old; and older than 18 years. This is the first study to conceptualise factors important for individuals with CDD. Findings from this study will guide health professionals and other service providers who support individuals with CDD and will offer insight into choosing appropriate QOL instruments when measuring outcomes for this group.

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin‐dependent kinase‐like 5 deficiency disorder

“…We know that sleep problems are pervasive in neurodevelopmental disorders and intellectual disability, and we would expect to see similar effects on the child's QOL for CDD, as for other disorders. We have previously demonstrated that the domains of QOL in CDD map to the domains of QOL represented in QI‐Disability (Tangarorang et al, 2019 ), and this additional consistency of findings provides further evidence for the validity of QI‐Disability as a measure of QOL in CDD.…”

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

“…A review of patients from the CDKL5 Disorder Database found that 20.7% of individuals were fed exclusively by gastrostomy or nasogastric tube ( 19 ) but this prevalence may be as high as 43% among individuals with CDD, following analysis of patients based in the United States of America ( 75 ) (154 individuals identified from data held by Centers of Excellence and 40 identified from the NIH's Natural History of Rett and Related Disorders database). In a smaller study on quality of life domains for those with CDD, as many as 56% (14/25 surveyed from the CDKL5 international registry) had a gastrostomy ( 49 ).…”

“…This lack of complete resolution of seizures, along with side-effects of the diet, led to poor long-term adherence (median duration 17 months). In a study on quality of life domains for individuals with CDD, 20% (5 of the 25 surveyed) were currently on a ketogenic diet ( 49 ).…”

Teaching Communication Skills in Children and Adolescents with Severe To Profound Neurodevelopmental Disorders through Aided-Alternative and Augmentative Strategies

“…Challenging behaviors (e.g., aggression, impulsivity, stereotypic movements, and tantrum behavior) may occur. Their clinical conditions may seriously hamper their social desirability, image, and status with deleterious outcomes on their quality of life [1][2][3][4]. To tackle this issue, one may refer to assistive technology-based rehabilitative programs (AT) [5,6].…”