ArticleDevelopmental medicine and child neurology2022
Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.
Article in Developmental medicine and child neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed.
- Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).Epilepsia · 2026Trial
- Patient outcomes in KCNQ2 developmental and epileptic encephalopathy.Developmental medicine and child neurology · 2026Review
- Holistic management of epilepsy in adults with intellectual development disorders.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- The Global Epilepsy Needs Study (GENS): A mixed-methods, multi-country exploration of the unmet psychosocial and everyday needs of people with epilepsy.Epilepsia open · 2026Article
- The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.Annals of medicine · 2025Article
- Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2025Article
- A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders.Orphanet journal of rare diseases · 2025Article
- Exploring the Effectiveness of Adjunctive Cenobamate in Focal Epilepsy: A Time-Based Analysis.CNS drugs · 2025Article
- Adult phenotypes of genetic developmental and epileptic encephalopathies.Brain communications · 2025Article
- Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder.International journal of molecular sciences · 2024Review
- Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.Developmental medicine and child neurology · 2024Article
- "Living with"Frontiers in neurology · 2024Article
- A disease concept model for STXBP1-related disorders.Epilepsia open · 2023Article
- Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials.Epilepsy & behavior : E&B · 2023Article
- Article
- Quality of life beyond diagnosis in intellectual disability - Latent profiling.Research in developmental disabilities · 2022Article
- A draft conceptual model of SLC6A1 neurodevelopmental disorder.Frontiers in neuroscience · 2022Article
- Article
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Abstract
aimTo summarize quality of life (QoL) and its determinants, including disease severity, in individuals with developmental and epileptic encephalopathies (DEEs) through a tailored questionnaire.
methodA questionnaire containing 89 items addressing demographic characteristics, genetic diagnosis, clinical features, and QoL was distributed to primary caregivers of individuals with DEEs through patient advocacy organizations. Composite scores were generated from the mean values of QoL items, grouped into domain scores.
resultsOut of 176 received responses, the most common genetic diagnoses reported were SCN2A (n=42/173, 24%), SLC6A1 (n=28/173, 16%), SCN1A (n=22/173, 13%), and KCNQ2 (n=21/173, 12%). Composite QoL scores centered around a mean score of 61.67 of 100 (SD 17.10). QoL scores were strongly associated with the number of days minimally disrupted by seizures, medication side effects, genetic diagnosis, and community type. The mean QoL scores for individuals with DEEs was significantly lower than for individuals with Rett syndrome, cerebral palsy, autism spectrum disorder, and Down syndrome.
interpretationQoL in DEEs can be assessed through a standardized instrument. QoL only partially overlaps with objective measurements of disease severity and may represent an independent outcome measure in precision medicine trials.
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