Naslov
Infantile spasms in children with Down syndrome

Autori
Lujić, Lucija ; Mejaški-Bošnjak, Vlatka ; Delin, Sanja ; Đuranović, Vlasta ; Krakar, Goran

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
3. Hrvatski kongres neuroznanosti, Zadar 2009. Knjiga sažetaka / Šimić, Goran - , 2009, 88-89

Skup
3. Croatian Congress of Neuroscience

Mjesto i datum
Zadar, Hrvatska, 24.09.2009. - 26.09.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
infantile spasms ; Down syndrome

Sažetak
Down syndrome (DS) is the most frequent genetic cause of mental retardation. In children with DS, beside typical phenotypic characteristics and mental retardation, there is higher incidence rate of congenital hypothyreosis, deafness, congenital heart disease, immune deficit and malignant diseases than in general population. According to available studies, seizures occur in 5-13% of those children, with higher incidence rates among children younger than 12 months. Infantile spasms (IS) are most common type of seizures and are usually well controlled by the administration of corticosteroids and other antiepileptic drugs. Tendency for the appearance of seizures is in connection with structural abnormalities of brain development in DS, but the exact mechanism is yet to be determined. Evidence suggest a possible interaction among excessive neuronal excitability caused by alteration in neuronal membrane channels, dysgenesis of dendritic spines and abnormal inhibitory transmission caused by a 20-50% decrease in the number of small inhibitory interneurons in cortical layers II and IV. Other factors such as perinatal asphyxia and infection as well as postnatal hypoxia caused by congenital heart disease also increase frequency of seizures. We present eleven children (9 male and 2 female) with DS and infantile spasms, who were treated in Children’s Hospital Zagreb from January 2000 to January 2009, all with regular 21 trisomy. Nine of those eleven children had congenital heart disease and one of them had to undergo heart surgery because of A-V canalis communis. The onset of infantile spasms was at the age of 5-10.5 months in ten children and one child had the onset at the age of 16 months. Only one child had perinatal risk factors for development of IS. EEG findings in all DS children were consistent with hypsarrhythmia. Brain image analysis (intracranial ultrasound, CT and/or MRI) demonstrated diffuse cortical atrophy in nine children. Intracranial ultrasound findings were normal in two children. Initial peroral anticonvulsive therapy (usually valproate) was inefficient in 10/11 children. After treatment with ACTH infantile spasms ceased between day 7 and 20 in eight children and after 28 days in two more children. Hypsarrhythmia disappeared in all children. During the follow-up time (from 2 years and 2 months until 8 years and 10 months) none of those patients developed any other type of seizures. Also there was no significant epileptogenic activity shown in EEG. In four children anticonvulsive therapy was withdrawn in the age of 4 years and 2 months to 5 years, including boy who died of heart disease in at the age of 4 years and 3 months.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA