Treatment Outcomes of West Syndrome in Infants With Down Syndrome
ABSTRACT West syndrome constitutes the most frequent of all seizure types in infants with Down syndrome. We retrospectively reviewed records of 12 infants with Down syndrome and West syndrome, accounting for 5% of 239 infants with West syndrome from a comprehensive epilepsy database during a 17-year period. All demonstrated classic hypsarrhythmia on video electroencephalograms. One had clinically responded to clonazepam, and one was not treated because the parents refused any treatment. Seven of 10 infants demonstrated a complete response to high-dose natural adrenocorticotrophic hormone. Four (57%) of these seven infants relapsed. Relapses occurred as long as 2 years after cessation of the initial presentation of infantile spasms. At most recent follow-up (median age, 5 years), 8/12 (67%) were seizure-free, and seven were off any medications. Two of three nonresponders manifested intractable epilepsy and profound mental retardation. Developmentally, 6/8 who could be assessed met criteria for autistic spectrum disorder. Close follow-up is necessary even after successful initial treatment, because relapses are frequent and can occur as long as 2 years later.
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ABSTRACT: Down syndrome (DS) is one of the most common causes of mental retardation in children. Many children with DS suffer from neurologic problems, including seizures. Epileptic spasms (ES) are the most frequently reported seizure type. As in the general epilepsy population, ES are rather difficult to control with anti-epileptic drugs. Different treatment regimens have been proposed in the literature, most of them containing vigabatrin or steroids. We present 12 children with DS, who were seen and treated at the Antwerp University Hospital because of seizures. Eight of them presented with ES. Different treatment regimens were used, with varying outcome. This article summarizes our experience with epilepsy in children with DS, describing the different treatment options that were used. We found a poor outcome in these children, compared to most previous reports. Although steroids play an important role in the treatment of ES worldwide, we found a low success rate (8.3 %) of these drugs.04/2015; DOI:10.1007/s13760-015-0457-5
Article: Síndrome de Down y epilepsia[Show abstract] [Hide abstract]
ABSTRACT: Down syndrome (DS) is the most common genetic cause of mental retardation affecting approximately one in 660 births. DS is associated with many neurological complications, including early-onset dementia that resembles Alzheimer's disease, Moyamoya disease, strokes, spinal ligamentous laxity and epilepsy. The prevalence of epilepsy in individuals with DS is higher than in the general population, with rates ranging from 1 to 13%, with a media of 5.5%. The increased seizure susceptibility in DS has been attributed to inherent structural and molecular anomalies of the brain and to secondary complications. Among other facts patients with DS have less inhibitory γ-aminobutiric acid containing granule cells and an increased level of glutamate, which favours a hyperexcitable state. West syndrome, with infantile spasms, is the most common epilepsy syndrome in children with DS. There are many electroencephalographic (EEG) anomalies associated with DS but no specific pattern has been established. The primary drug choices for infantile spasms are adrenocorticotropic hormone, valproate and vigabatrine, but no significant difference has been demonstrated with different treatment options. Studies have shown that children with DS have better seizure control compared to other children with symptomatic infantile spasms. Other seizure types have been described in adult patients with DS including focal crisis, reflex seizures, and late-onset myoclonic epilepsy associated with dementia. This article provides an overview of epilepsy in DS.SD Revista Medica Internacional sobre el Sindrome de Down 01/2014; 18(1):3–8. DOI:10.1016/S1138-2074(14)70044-2
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ABSTRACT: West syndrome is the most frequent cause of epilepsy in Down syndrome. West syndrome is often associated with poor long-term prognosis in most of children. We report a girl with West syndrome associated with Down syndrome revealed at 8 months of age for repetitive flexor spasms and electroencephalography (EEG) showed hypsarrhythmia. She had Down syndrome facies, microcephaly, psychomotor development delay and axial hypotonia. Computed tomography of the brain was normal. Her karyotype was 47, XX, +21. Phenobarbital therapy was immediately effective with good clinical control of seizures, while the EEG monitored after one month was unchanged. At 2 years of age, the patient had hypertonic status epilepticus following a lung infection. The EEG showed a persistence of hypsarrhythmia. Sodium valproate and hydrocortisone therapy was effective with good seizure control but her psychomotor development was severely impaired. After a follow-up of 7 years, the patient presents growth retardation, microcephaly, severe psychomotor development delay, generalized hypotonia and tetraparesis. Knowledge of West syndrome in Down syndrome allows the early detection and prompt management of this neurological complication in order to optimize psychomotor development and improve the quality of life of these children.Pediatria polska 05/2014; DOI:10.1016/j.pepo.2014.03.006