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

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.

A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.

Hyperekplexia (OMIM 149400) is an uncommon neurologic disorder characterized by exaggerated response to sensitive stimuli. It may be sporadic or familial. The disease is usually caused by mutations in the inhibitory glycine receptor alpha1-subunit. The authors report a male patient who is affected by the major form of familial hyperekplexia. He is currently 5 years old and is being successfully treated with clonazepam. Prenatal diagnosis was made owing to prior identification of point mutation K276E in his affected mother. Early diagnosis avoided complex and prolonged differential diagnostic procedures and allowed for early and effective intervention on severe neonatal symptoms: hypertonia, episodes of cyanosis, apneic spells, and massive myoclonic jerks. During his first year of life, the patient was treated with cycles of phenobarbital and diazepam and achieved partial clinical response. Subsequent therapy with low-dose clonazepam was highly effective in reducing myoclonic jerks and exaggerated startle reaction, and unlike previously used drugs, it was decisive in reducing hypertonia.