Mammadova D, Vecko J, Hofmann M, Schüssler S, Deiters L, Canda A, Wieland A, Gollwitzer S, Hamer H, Trollmann R (2023)
Publication Type: Journal article
Publication year: 2023
Book Volume: 18
Article Number: 349
Journal Issue: 1
DOI: 10.1186/s13023-023-02959-0
Background: Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The aim of the present study was to determine the developmental and cognitive long-term outcomes of pediatric TSC patients. Methods: This cross-sectional, monocenter study included pediatric TSC patients who received multidisciplinary long-term care with a last visit between 2005 and 2019. Neurological manifestations and cognitive development (BSID, K-ABC) were analyzed in relation to age and type of mutation. Results: Thirty-five patients aged 13.5 ± 7.8 years were included in the study. Diagnosis was confirmed genetically in 65.7% of patients (TSC1, 26.1%; TSC2, 65.2%; NMI, 8.7%). Mean age at diagnosis was 1.3 ± 3.5 years; 74.3% of the patients had been diagnosed within the first year of life due to seizures (62.9%) or/and cardiac rhabdomyomas (28.6%). The most common TSC manifestations included structural brain lesions (cortical tubers, 91.4%; subependymal nodules, 82.9%), epilepsy (85.7%), and cardiac rhabdomyomas (62.9%). Mean age at seizure onset was 1.5 ± 2.3 years, with onset in 80.0% of patients within the first two years of life. Infantile spasms, which were the first seizure type in 23.3% of the patients, developed earlier (0.6 ± 0.4 years) than focal seizures (1.8 ± 2.5 years). Refractory epilepsy was present in 21 (70.0%) patients, mild or severe intellectual impairment in 66.6%, and autism spectrum disorders in 11.4%. Severe cognitive impairment (33.3%) was significantly associated with epilepsy type and age at seizure onset (p < 0.05). Conclusions: The results emphasized the phenotypic variability of pediatric-onset TSC and the high rate of neurological and neuropsychiatric morbidity. Early-onset refractory epilepsy was associated with impaired cognitive development. Children of all ages with TSC require multidisciplinary long-term care and individual early-intervention programs.
APA:
Mammadova, D., Vecko, J., Hofmann, M., Schüssler, S., Deiters, L., Canda, A.,... Trollmann, R. (2023). A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex. Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02959-0
MLA:
Mammadova, Dilbar, et al. "A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex." Orphanet Journal of Rare Diseases 18.1 (2023).
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