Infantile spasms in down syndrome: A report of 5 cases and review of the literature

Pollack, Michael A.; Golden, Gerald S.; Schmidt, Rina; Davis, Jessica A; Leeds, Norman E.

doi:10.1002/ana.410030508

Cited by 29 publications

(38 citation statements)

References 7 publications

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“…Of those with epilepsy, reflex epilepsies (210) and infantile spasms (211,212) are most common. In recent times, a second increase in the prevalence of epilepsy (9-10%) has been reported after age 50 years, associated with dementia (213,215).…”

Section: Chromosome 21mentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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Section: Chromosome 21mentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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“…The incidence of epilepsy in children with DS was estimated to be 1.4% (Tat-sun0 et al, 1984) and was considered to be not much higher than in the general population. It has been observed that infantile spasms have a high incidence in DS (Pollack et al, 1978; Tatsuno et al, 1984), that febrile convulsions are less common in DS patients than in the general population (Tatsuno et al, 1984) and that the overall prevalence of epilepsy increases with age in DS beyond the prevalence in the general population, reaching 12.2% in patients over 35 (veall, 1974).…”

mentioning

confidence: 99%

Reflex Seizures are Frequent in Patients with Down Syndrome and Epilepsy

Guerrini

Genton²,

Bureau³

et al. 1990

Epilepsia

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In a retrospective study of 30 Down syndrome (DS) patients with epilepsy, we found 6 cases (20%) with reflex seizures. One patient had benign myoclonic epilepsy of infancy with clinical photosensitivity. The other 5 cases had all startle-induced epileptic seizures and a form of symptomatic epilepsy. Three patients had a Lenox-Gastaut syndrome, one had generalized symptomatic epilepsy, and one had partial symptomatic epilepsy (PSE). Reflex epilepsy was also used as a classification category in the PSE case, as most or all seizures were stimulus-related in this patient. Seizures precipitated by stimuli were stereotyped in 4 patients, but 2 patients responded to stimuli with different types of seizures. The actual occurrence of reflex seizures in DS patients with epilepsy is probably underestimated. These cases seem to confirm previous reports showing deficiencies in cortical inhibition in the brain of DS patients.

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“…Infantile spasms, particularly frequent in male patients, are usually associated with a poor long-term prognosis (Fig. 1) [19,51,62-65]. However about half of the children with infantile spasms achieve seizure remission without relapse and partial restoration of development.…”

Section: Resultsmentioning

confidence: 99%

Epilepsy and chromosomal abnormalities

Sorge

2010

Ital J Pediatr

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BackgroundMany chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.MethodsDetailed clinical assessment, electrophysiological studies, survey of the literature.ResultsIn some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy.ConclusionsA better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities.

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Infantile spasms in down syndrome: A report of 5 cases and review of the literature

Cited by 29 publications

References 7 publications

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Reflex Seizures are Frequent in Patients with Down Syndrome and Epilepsy

Epilepsy and chromosomal abnormalities

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