Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous
Xia Wang1, Yifeng Ding2, Yuanfeng Zhou2
1Department of Neonatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Insights
Prenatal diagnosis and early intervention for tuberous sclerosis complex (TSC) show promising results. Early intervention in TSC may reduce epilepsy incidence and improve developmental outcomes in children.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs.
- Early diagnosis and intervention are crucial for managing TSC complications.
- Developmental outcomes and epilepsy prognosis in TSC can be significantly impacted by timely management.
Purpose of the Study:
- To evaluate the benefits of prenatal diagnosis and early intervention in tuberous sclerosis complex (TSC).
- To assess the impact of early intervention on developmental outcomes and epilepsy prognosis in individuals with TSC.
- To compare outcomes between prenatally and postnatally diagnosed TSC cohorts.
Main Methods:
- Retrospective study of 273 individuals with confirmed TSC.
- Analysis of epilepsy and developmental outcomes based on prenatal diagnosis and early intervention status.
- Inclusion of TSC1/TSC2 genetic testing and follow-up to two years of age.
Main Results:
- Significantly lower epilepsy occurrence in prenatally diagnosed individuals (p=0.027).
- Preventive intervention in prenatally diagnosed individuals further reduced epilepsy rates (p=0.008).
- Improved cognitive, language, and motor development observed in prenatally diagnosed and early-intervention groups (p<0.05).
Conclusions:
- Prenatal diagnosis and early intervention may improve developmental outcomes in children with TSC.
- Prophylactic treatment with sirolimus and vigabatrin might reduce epilepsy incidence.
- Larger prospective studies are needed to confirm these findings.
Aim:
To assess whether prenatal diagnosis and early intervention are beneficial for developmental outcomes and epilepsy prognosis in individuals with tuberous sclerosis complex (TSC).
Method:
This retrospective study originated from a single-centre TSC-specific cohort. We enrolled 273 individuals (138 males, 145 females; 2 years-7 years 6 months, mean 4 years 5 months, SD 1 year 6 months) with definitive TSC who completed TSC1/TSC2 genetic testing and were followed up to 2 years of age. The benefits of early attention and intervention were assessed by comparing epilepsy and developmental outcomes between groups with or without a prenatal diagnosis and with or without presymptomatic preventive intervention.
Results:
The epilepsy occurrence rate was significantly lower in individuals diagnosed prenatally than in individuals diagnosed postnatally (p = 0.027). In individuals diagnosed prenatally, the epilepsy rate in the preventive intervention subgroup was significantly lower than that in the subgroup without preventive intervention (p = 0.008). Significant improvements in cognitive, language, and motor development were observed in individuals diagnosed prenatally compared to individuals diagnosed postnatally and in the preventive intervention subgroup compared to the subgroup without preventive intervention (p < 0.05).
Interpretation:
Based on this study, we cautiously speculate that early postpartum intervention may reduce the incidence of epilepsy and intractable epilepsy and improve developmental outcomes. Prophylactic intervention with sirolimus and vigabatrin may reduce the incidence of epilepsy. Larger prospective randomized controlled studies are required to support these findings.
What This Paper Adds:
Prenatal diagnosis and early intervention may improve developmental outcomes in children with tuberous sclerosis complex (TSC). Prophylactic intervention with sirolimus and vigabatrin may reduce the incidence of epilepsy. Cardiac and/or intracranial lesions combined with genetic testing can be used to diagnose TSC prenatally.
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