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Have epilepsy outcomes changed for children with tuberous sclerosis complex in Queensland, Australia?
Melissa Braun1, Kate Riney2,3
1Metro South Addiction and Mental Health Service, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Insights
Epilepsy in tuberous sclerosis complex (TSC) remains common despite earlier diagnosis. However, advancements in care have improved epilepsy remission rates, offering hope for affected children and their families.
Area of Science:
- Pediatric Neurology
- Genetics
- Epileptology
Background:
- Epilepsy is a primary manifestation of tuberous sclerosis complex (TSC).
- Recent advancements in TSC healthcare necessitate an updated understanding of epilepsy outcomes.
- This study investigates changes in epilepsy presentation and management in pediatric TSC patients over the past decade.
Purpose of the Study:
- To evaluate if epilepsy outcomes in children with tuberous sclerosis complex (TSC) have changed.
- To compare epilepsy diagnosis and treatment trends in TSC patients born before and after 2012.
- To provide updated information for counseling parents of newly diagnosed pediatric TSC patients.
Main Methods:
- Retrospective chart review of pediatric patients diagnosed with TSC in Queensland, Australia.
- Data extraction on epilepsy outcomes and TSC diagnosis timing.
- Comparison of outcomes between cohorts born before 2012 and those born in or after 2012.
Main Results:
- Epilepsy frequency (85%) in TSC has not changed, but diagnosis is increasingly antenatal and earlier.
- While infantile spasms (IS) are less frequent initially, late-onset IS correlates with lower remission rates.
- Despite high rates of treatment-refractory epilepsy, 66% achieved remission, often through surgery or age.
Conclusions:
- Earlier TSC diagnosis has not reduced epilepsy prevalence but has shifted diagnosis timing.
- Improved management strategies contribute to higher epilepsy remission rates in pediatric TSC.
- Updated data are crucial for informed parental counseling regarding TSC-associated epilepsy.
Objective:
Historically, epilepsy has been the most frequently presenting feature of tuberous sclerosis complex (TSC). Advances in TSC health care have occurred over the past decade; thus, we studied whether TSC epilepsy outcomes have changed.
Method:
A retrospective chart review was undertaken for all children with TSC in Queensland, Australia. Epilepsy outcome and TSC diagnosis data were extracted, and data were compared between children born before 2012 with those born in or after 2012.
Results:
In this retrospective cohort, TSC diagnosis in children born in or after 2012 is now predominantly antenatal (51%, p < .05). Most patients with epilepsy are now known to have TSC before they develop epilepsy. Despite earlier TSC diagnosis, the frequency of epilepsy (85%) has not changed (p = .92), but diagnosis trends toward an earlier age (median = 3 months for patients born in or after 2012 vs. 5.5 months for those born before 2012, p = .23). Most (95%) patients had focal seizures as their initial clinical seizure type; it was rare (5%) for epileptic spasms (ES) to be the initial seizure type. The frequency of ES was lower in patients born in or after 2012 (36% vs. 50%, p = .27). Infantile (<24 months) onset ES was not associated with worse epilepsy outcome. Late onset ES was seen in 14%, and these patients had a lower rate of epilepsy remission. Lennox-Gastaut syndrome was seen in 7%. Febrile/illness-related status epilepticus occurred in 12% of patients, between 1 and 4 years of age. Despite many (78%) patients having multiple daily seizures at maximal seizure frequency, and 74% meeting criteria for treatment-refractory epilepsy, most patients achieved epilepsy remission (66%), either with epilepsy surgery (47%) or with age (53%). At the time of inclusion in this study, only 21% of patients had uncontrolled frequent (daily to 3 monthly) seizures and 14% had uncontrolled infrequent (3 monthly to <2 yearly) seizures.
Significance:
This study provides updated information that informs the counseling of parents of newly diagnosed pediatric TSC patients.
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