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; 6-18years old; and older than 18years. 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.
| Original language | English |
|---|---|
| Pages (from-to) | 249-256 |
| Number of pages | 8 |
| Journal | American Journal of Medical Genetics Part A |
| Volume | 179 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 2019 |
Cite this
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A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder. / Tangarorang, Jodilee; Leonard, Helen; Epstein, Amy; Downs, Jenny.
In: American Journal of Medical Genetics Part A, Vol. 179, No. 2, 02.2019, p. 249-256.Research output: Contribution to journal › Article
TY - JOUR
T1 - A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder
AU - Tangarorang, Jodilee
AU - Leonard, Helen
AU - Epstein, Amy
AU - Downs, Jenny
PY - 2019/2
Y1 - 2019/2
N2 - 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; 6-18years old; and older than 18years. 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.
AB - 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; 6-18years old; and older than 18years. 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.
KW - CDKL5 deficiency disorder
KW - epileptic encephalopathy
KW - intellectual disability
KW - qualitative research
KW - quality of life
KW - INTELLECTUAL DISABILITY
KW - FUNCTIONAL ABILITIES
KW - RETT-SYNDROME
KW - CHILDREN
KW - SEIZURE
KW - ONSET
KW - GIRLS
U2 - 10.1002/ajmg.a.61012
DO - 10.1002/ajmg.a.61012
M3 - Article
VL - 179
SP - 249
EP - 256
JO - Am J Med Genet A
JF - Am J Med Genet A
SN - 0148-7299
IS - 2
ER -