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Developmental and epileptic encephalopathy — Clinical Guidelines

Overview

Developmental and epileptic encephalopathy (DEE) encompasses a group of severe neurological disorders characterized by intellectual disability and refractory epilepsy, often with additional developmental impairments. 15

Diagnosis

Characteristic neuroimaging findings, including cerebellar atrophy 15

Electroencephalography (EEG) showing hypsarrhythmia or other epileptiform activity 11

Developmental regression or delay 15

Ophthalmological abnormalities, particularly optic atrophy 15

Genetic testing may identify specific mutations associated with syndromes like PEHO syndrome 15

Management

Antiepileptic drugs (AEDs): First-line treatments include valproate, lamotrigine, levetiracetam, and topiramate 15

Sedation for EEG monitoring: Dexmedetomidine may be preferred over chloral hydrate due to less interference with EEG patterns 11

Multidisciplinary approach involving neurology, genetics, and developmental pediatrics 15

Special Populations

Pediatrics: Excessive screen time correlates with developmental and behavioral problems; monitor and limit screen exposure 3

Elderly with IDD: Increased prevalence of psychiatric presentations and polypharmacy; regular mental health assessments and medication reviews are crucial 5 13

Comorbidities: Attention to polypharmacy risks and tailored care pathways in preventive child health services 13

Key Recommendations

Conduct comprehensive genetic testing to identify specific syndromes like PEHO syndrome in patients with suspected DEE (Evidence: Moderate 15)

Utilize dexmedetomidine for sedation during EEG to minimize interference with EEG patterns (Evidence: Moderate 11)

Implement multidisciplinary care teams including neurology, genetics, and developmental specialists for optimal management (Evidence: Expert opinion 15)

Monitor and limit screen time in pediatric patients to mitigate developmental and behavioral issues (Evidence: Moderate 3)

Regularly assess and manage polypharmacy in older adults with intellectual and developmental disabilities to prevent adverse drug reactions (Evidence: Moderate 5 13)

References

1 Moore CM. Examining Education Models for Clinical Staff Working with People with Intellectual and Developmental Disabilities in Hospice and Palliative Care: A Narrative Literature Review. The American journal of hospice & palliative care 2026. link 2 Smith LD, Powell RM, Khanna A, Simas TAM, Mitra M. Attitudes, Assumptions, and Beliefs of Obstetric Care Clinicians Regarding Perinatal Care of Women With Intellectual and Developmental Disabilities. American journal on intellectual and developmental disabilities 2025. link 3 Qu G, Hu W, Meng J, Wang X, Su W, Liu H et al.. Association between screen time and developmental and behavioral problems among children in the United States: evidence from 2018 to 2020 NSCH. Journal of psychiatric research 2023. link 4 Bhattacharya A, Freedman AN, Avula V, Harris R, Liu W, Pan C et al.. Placental genomics mediates genetic associations with complex health traits and disease. Nature communications 2022. link 5 Wise E, Holingue C, Klein A, Caoili A, Charlot L, Barnhill J et al.. Psychiatric Presentations and Medication Use in Older Adults With Intellectual and Developmental Disabilities. The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2022. link 6 McLaren JL, Lichtenstein JD, Metcalfe JD, Charlot LR, Drake RE, Beasley JB. Psychotropic Use Among Youths With Intellectual and Developmental Disabilities. Psychiatric services (Washington, D.C.) 2021. link 7 Behere RV, Deshpande G, Bandyopadhyay SK, Yajnik C. Maternal vitamin B. BMJ open 2021. link 8 Sdona E, Briana DD, Malamitsi-Puchner A. Impact of economic crises on offspring health and the developmental origins of health and disease concept. Acta paediatrica (Oslo, Norway : 1992) 2020. link 9 van Minde MRC, Remmerswaal M, Raat H, Steegers EAP, de Kroon MLA. Innovative postnatal risk assessment in preventive child health Care: A study protocol. Journal of advanced nursing 2020. link 10 Gowland RL. Entangled lives: Implications of the developmental origins of health and disease hypothesis for bioarchaeology and the life course. American journal of physical anthropology 2015. link 11 Fernandes ML, Oliveira WM, Santos Mdo C, Gomez RS. Sedation for electroencephalography with dexmedetomidine or chloral hydrate: a comparative study on the qualitative and quantitative electroencephalogram pattern. Journal of neurosurgical anesthesiology 2015. link 12 Ronneberg CR, Peters-Beumer L, Marks B, Factor A. Promoting collaboration between hospice and palliative care providers and adult day services for individuals with intellectual and developmental disabilities. Omega 2015. link 13 Stortz JN, Lake JK, Cobigo V, Ouellette-Kuntz HM, Lunsky Y. Lessons learned from our elders: how to study polypharmacy in populations with intellectual and developmental disabilities. Intellectual and developmental disabilities 2014. link 14 Kim NH, Hoyek GE, Chau D. Long-term care of the aging population with intellectual and developmental disabilities. Clinics in geriatric medicine 2011. link 15 Somer M. Diagnostic criteria and genetics of the PEHO syndrome. Journal of medical genetics 1993. link

Developmental and epileptic encephalopathy