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Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children
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BACKGROUND AND OBJECTIVES: We aimed to determine the population-based cumulative incidence and prevalence of developmental and epileptic encephalopathies (DEEs) and intellectual disability and epilepsy (ID+E) in children. We analyzed the cumulative incidence of specific epilepsy syndromes. METHODS: Children younger than 16 years with a DEE or ID+E were ascertained using EEG records from 2000 to 2016 in the Wellington region of New Zealand. Epilepsy syndromes were diagnosed on medical record and EEG review. Point prevalence and cumulative incidence for children with epilepsy and developmental impairment, DEE and ID+E were calculated. Cumulative incidence for each epilepsy syndrome was calculated. RESULTS: The cohort comprised 235 children (58% male) with developmental impairment and epilepsy, including 152 (65%) with DEE and 83 (35%) with ID+E. The median age of seizure onset was 15.4 months (range day 1-15 years). The median follow-up from seizure onset was 7.9 years (range 0-18.2 years). Point prevalence for the broad group of children with epilepsy and developmental impairment was 175/100,000 children (95% CI 149-203; DEE 112 and ID+E 63/100,000 children). Cumulative incidence for DEE was 169/100,000 children (95% CI 144-199) and that for ID+E was 125/100,000 children (95% CI 95.4-165). Cumulative incidence per 100,000 children was as follows: infantile epileptic spasms syndrome 58.2 (95% CI 45.0-75.3), epilepsy with myoclonic-atonic seizures 16.4 (95% CI 9.69-27.7), Lennox-Gastaut syndrome 13.2 (95% CI 4.1-41.9), and Dravet syndrome 5.1 (95% CI 2.1-12.2). Fifty/152 (33%) of children with DEE and 70/83 (84%) with ID+E could not be diagnosed with a known epilepsy syndrome. DISCUSSION: Epilepsy and developmental impairment before the age of 16 years occurs in 1 in 340 children, with 1 in 590 having a DEE and 1 in 800 having ID+E. These individuals require significant health and community resources; therefore, these data will inform complex health service and education planning. Epidemiologic studies have focused on early childhood-onset DEEs. These do not fully reflect the burden of these disorders because 27% of DEEs and 70% of ID+E begin later, with seizure onset after the age of 3 years. Understanding the cumulative incidence of specific syndromes together with the broad group of DEEs is essential for the planning of therapeutic trials. Given trials focus on specific syndromes, there is a risk that effective therapies will not be developed for one-third of children with DEE.
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“The most common DEE syndrome is Infantile Epileptic Spasms Syndrome (IESS) with an incidence of 30.7 in 100,000 individuals (95% CI 22.9-40.2) to 48.9 in 100,000 individuals (95% CI 37.0-64.7);~27% of IESS have a structural aetiology 3,9 .”
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“A DEE should be distinguished from a static developmental encephalopathy (typically resulting in intellectual disability) with epilepsy, in which the developmental encephalopathy alone (that is, not the epilepsy) causes developmental impairment 3 .”
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“DEEs typically present in childhood, before the age of 16 years, with a study from 2023 not identifying any presentations between 9 and 16 years 3 .”
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“In Wellington, New Zealand, the cumulative incidence of DEEs with onset up to age 16 years has been estimated at 169 in 100,000 (95% CI 144-199) or 1 in 590 children, based on EEG ascertainment 3 .”
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“Incidence estimates have been reported for many DEE syndromes; however, around one-third of patients cannot be classified as having a specific syndrome 3,9 .”
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“Agespecific incidence varies through childhood with ~75% of cases beginning under 3 years of age, with a cumulative incidence estimated at 122 in 100,000 children (95% CI 102-146) in a retrospective study in Wellington 3 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [3]
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Metadata
- Authors
- Poke, G., Stanley, J., Scheffer, I. E., & Sadleir, L. G.
- Affiliations
- The University of Melbourne (AU)
- Venue
- Neurology
- Published
- 2023-03-28
- Volume
- 100
- Issue
- 13
- Pages
- e1363-e1375
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC10065214
- OpenAlex
- W4313311983
- Cited by
- 96
- References
- 32
- Citations by year
- 2026: 33 · 2025: 32 · 2024: 25 · 2023: 6
- FWCI
- 10.25
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eisai
- Health Research Council of New Zealand
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
- Health Sciences › Medicine › Physiology (medical) › Diet and metabolism studies
- Keywords
- developmental and epileptic encephalopathy, cumulative incidence, point prevalence, pediatric epilepsy, epilepsy syndromes, infantile spasms, Lennox-Gastaut syndrome, Dravet syndrome, myoclonic-atonic seizures, developmental disabilities, seizure onset age, population-based epidemiology
- MeSH terms
- Adolescent, Child, Child, Preschool, Electroencephalography, Epilepsies, Myoclonic, Female, Humans, Infant, Newborn, Male, Intellectual Disability, Seizures, Lennox Gastaut Syndrome
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