Learnings in developmental and epileptic encephalopathies: what do we know?

ABSTRACT

Introduction

Developmental and Epileptic Encephalopathies (DEEs) encompass a group of neurological disorders caused by either abnormal neuronal development and white matter maturation or even by weak synaptic plasticity. Hitherto, patients commonly have epileptic seizures featuring cognitive dysfunction, such as neurosensory disorders, difficulties in learning, behavioral disturbances, or speech delay.

Areas covered

This paper provides a comprehensive review of the current knowledge of DEEs and cognition. Medline/Pubmed database was screened for in-English articles published between 1967–2022 dealing with the topic of DEEs and cognitive development. Two authors independently screened the title and abstract of each record and reviewed the selected articles. Reviews, randomized clinical trials, and case reports were selected.

Expert opinion

Scientific literature has never explicitly dealt with the early neuro-psychomotor rehabilitation and neuropsychological assessment of patients with DEEs. Targeted intervention and environmental stimuli can influence the maturation of neuronal circuits and shape changes in physical and mental development based on neuronal plasticity, particularly if applied in ‘critical periods’ liable to heightened sensitivity. Thus, ‘early neurorehabilitation interventions’ are worthy of being more and more applied to clinical practice to improve the quality of life and reduce the psychosocial burden on families and caregivers.

KEYWORDS:

• DEEs
• epilepsy
• neurocognition
• neurodevelopment
• pediatrics

Article highlights

• The term Developmental and Epileptic Encephalopathy (DEE) was coined in 2017 to describe a condition characterized by both epilepsy and developmental impairment, the last being an epiphenomenon where cognitive functions are influenced by seizures themselves

• Patients with DEEs commonly face different learning difficulties which are highly dependent on the underlying pathology.

• Cognitive comorbidities severely impact the quality of life of patients and their caregivers.

• There are no specific neurorehabilitation and neuropsychological methods to treat these patients, as well there is a lack of ‘gold standards’ for diagnosis.

• Early intervention is necessary to influence the maturation of neuronal circuits and shape changes in physical and mental development based on neuronal plasticity.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.