Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset

•The majority (93 %) of families had a positive molecular genetic diagnosis.•Ten people (20 %) had recurrent seizures, 12–13 years from last childhood seizure.•Seven children had global developmental delay (14 %), 5 (10 %) had Autism.•The majority (82 %) have average adaptive functioning.•Predictors...

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Published in:Seizure (London, England) England), 2024-02, Vol.115, p.1-13
Main Authors: Innes, Emily A, Marne, Fleur Annette Le, Macintosh, Rebecca, Nevin, Suzanne M., Briggs, Nancy E, Vivekanandarajah, Sinthu, Webster, Richard I, Sachdev, Rani K, Bye, Ann M E
Format: Article
Language:English
Subjects:
Adult
Australia - epidemiology
Autism Spectrum Disorder
Channelopathy
Child
Developmental delay
Epilepsy - epidemiology
Epilepsy - genetics
Epilepsy, Benign Neonatal - genetics
Epileptic Syndromes
Familial epilepsy
Humans
Infant, Newborn
Infantile
Membrane Proteins - genetics
Mutation
Neonatal
Nerve Tissue Proteins - genetics
Retrospective Studies
Seizures
Seizures - epidemiology
Seizures - genetics
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Summary:•The majority (93 %) of families had a positive molecular genetic diagnosis.•Ten people (20 %) had recurrent seizures, 12–13 years from last childhood seizure.•Seven children had global developmental delay (14 %), 5 (10 %) had Autism.•The majority (82 %) have average adaptive functioning.•Predictors of adverse outcomes were high seizure burden & longer epilepsy duration. To determine: i) seizure recurrence; ii) developmental disability; iii) co-morbidities and risk factors in self-limited familial neonatal and/or infantile epilepsy (SeLFE) in a multigenerational study. Families were retrospectively recruited from epilepsy databases (2021–2022) in 2 paediatric hospitals, Sydney, Australia. Eligible families had 2 first degree relatives with seizures and underwent genetic testing. Demographics/clinical data were collected from interviews and medical records. Vineland Adaptive Behaviour Scales-Third Edition measured adaptive function. Fifteen families participated. Fourteen had a genetic diagnosis (93%): 11 pathogenic; PRRT2 (n=4), KCNQ2 (n=3), SCN2A (n=4), 3 likely pathogenic; KCNQ2 (n=1), SCN8A (n=2). Seizures affected 73 individuals (ages 1–76 years); 30 children and 20 adults had in-depth phenotyping. Ten of 50 individuals (20%) had seizure recurrence, aged 8–65 years. Median time from last neonatal/infantile seizure was 11.8/12.8 years. Predictors of recurrence were high seizure number (p=0.05) and longer treatment duration (p=0.03). Seven children had global developmental delay (GDD): mild (n=4), moderate (n=1) and severe (n=2). Vineland-3 identified 3 had low-average and 3 had mild-moderately impaired functioning. The majority (82%) were average. GDD was associated with older age at last seizure (p=0.03), longer epilepsy duration (p=0.02), and higher number of anti-seizure medications (p=0.05). Four children had speech delay, 5 (10%) had Autism Spectrum Disorder. Paroxysmal kinesiogenic dyskinesia (n=5) occurred in 4 families and hemiplegic migraine (n=8) in 3 families. Individuals with SeLFE have a small risk of recurrent seizures (20%) and neurodevelopmental disability. Significant predictors are higher seizure number and longer epilepsy duration. Developmental surveillance is imperative.
ISSN:1059-1311
1532-2688
DOI:10.1016/j.seizure.2023.12.013