Epilepsy in Children with Down Syndrome: Case Series

Öz

Epilepsy is more common in children with Down Syndrome than in the normal population. This study examined the clinical and treatment outcomes of children with epilepsy in Down syndrome. This study was conducted retrospectively in children with Down syndrome and epilepsy at the Child Neurology Clinic between January 2020 and August 2024. Medical records were examined in terms of gender, age, age at seizure onset, age at diagnosis, comorbidities, level of intellectual disability, seizure types, previously used antiepileptic drugs, antiepileptic drugs at the last follow-up, interictal electroencephalogram findings, and brain magnetic resonance imaging results. A total of twelve children (five boys and seven girls) with Down syndrome and epilepsy were identified. The median age of the patients was 105.5 months; the median age of seizure onset was twelve months. The seizure types of the patients were as follows: eight patients had focal seizures (focal clonic in six cases, focal tonic/clonic in two cases), three patients had epileptic spasms, and one patient had generalized seizures. When all antiepileptic drugs used by the patients were examined, it was seen that six patients used valproic acid, three patients used ACTH, three patients used phenobarbital, three patients used phenytoin, two patients used topiramate, and one patient used carbamazepine, lamotrigine, and levetiracetam. In this study, the frequency of epilepsy in individuals with Down Syndrome was determined to be 8.76%. Epilepsy in children with Down Syndrome can impede cognitive and motor development and significantly affect their quality of life, especially if diagnosis is delayed or therapeutic management is inadequate. Therefore, early diagnosis and correct treatment are essential for these patients.

Anahtar Kelimeler

• Down syndrome
• epilepsy
• child

Down Sendromlu Çocuklarda Epilepsi: Olgu Serisi

Öz

Down Sendromlu çocuklarda epilepsi normal popülasyona göre daha yaygındır. Bu çalışmada Down sendromlu ve epilepsili çocukların klinik ve tedavi sonuçları incelendi. Bu çalışma Ocak 2020-Ağustos 2024 tarihleri arasında Çocuk Nöroloji Kliniği’nde Down sendromlu ve epilepsi tanısıyla izlenen çocuklarda retrospektif olarak yapıldı. Tıbbi kayıtlar cinsiyet, yaş, nöbet başlangıç yaşı, tanı yaşı, eşlik eden hastalıklar, zihinsel engellilik düzeyi, nöbet tipleri, daha önce kullanılan antiepileptik ilaçlar, son takipte kullanılan antiepileptik ilaçlar, nöbetler arası elektroensefalogram bulguları ve beyin manyetik rezonans görüntüleme sonuçları açısından incelendi. Down sendromlu ve epilepsili toplam oniki çocuk (beş erkek ve yedi kız) tespit edildi. Hastaların ortanca yaşı 105,5 ay, ortanca nöbet başlangıç yaşı oniki ay olarak bulundu. Hastaların nöbet tipleri şu şekildeydi; sekiz hastada fokal nöbetler (altı olguda fokal klonik, iki olguda fokal tonik/klonik), üç hastada epileptik spazmlar ve bir hastada jeneralize nöbetler mevcuttu. Hastaların kullandıkları tüm antiepileptik ilaçlar incelendiğinde altı hastanın valproik asit, üç hastanın ACTH, üç hastanın fenobarbital, üç hastanın fenitoin, iki hastanın topiramat, bir hastanın karbamazepin, lamotrijin ve levetirasetam kullandığı görüldü. Bu çalışmada Down Sendromlu bireylerde epilepsi sıklığının %8,76 olduğu saptanmıştır. Down Sendromlu çocuklarda epilepsi, bilişsel ve motor gelişimi engelleyebilir ve özellikle tanı gecikirse veya terapötik yönetim yetersizse yaşam kalitelerini önemli ölçüde etkileyebilir. Bu nedenle erken tanı ve doğru tedavi bu hastalar için çok önemlidir.

Anahtar Kelimeler

• Down sendromu
• epilepsi
• çocuk

Kaynakça

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