Relationship between severity of epilepsy and developmental outcome in Angelman syndrome

Ohtsuka, Yoko; Kobayashi, Katsuhiro; Yoshinaga, Harumi; Ogino, T.; Ohmori, Iori; Ogawa, Katsuo; Oka, Eiji

doi:10.1016/j.braindev.2003.09.015

Cited by 25 publications

(23 citation statements)

References 16 publications

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“…The most common seizure types reported were atonic seizures, generalized tonic-clonic seizures, and atypical absence seizures, which is consistent with previous studies. Although epilepsy in Angelman syndrome is considered generalized epilepsy, partial-onset seizures were fairly prevalent, which has been reported previously (Ruggieri & McShane, 1998;Buoni et al, 1999;Nolt et al, 2003;Ohtsuka et al, 2005;Valente et al, 2006). Over 3% of those in this study reported catastrophic epilepsy syndromes such as infantile spasms and Lennox-Gastaut syndrome.…”

Section: Discussionsupporting

confidence: 69%

“…Sporadic cases of infantile spasms have been reported as well (Galvan‐Manso et al., 2005a, 2005b;Uemura et al., 2005; Paprocka et al., 2007). Nonconvulsive status epilepticus (NCSE) is common (Pelc et al., 2008), but reports on the prevalence of both convulsive status epilepticus and NCSE are variable, with reported rates of NCSE as high as 91% (Ohtsuka et al., 2005). Children with Angelman syndrome can also develop myoclonic status with nonprogressive encephalopathies.…”

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confidence: 99%

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Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options

et al. 2009

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This is the largest study to date assessing epilepsy in AS. Although epilepsy in AS is considered a generalized epilepsy, there was a high prevalence of partial seizures. There are few previous data regarding the use of newer AED in AS, and the results of this study suggest that these newer agents, specifically levetiracetam and lamotrigine, may have efficacy similar to that of valproic acid and clonazepam, and that they appear to have similar or better side-effect profiles. Nonpharmacologic therapies such as dietary therapy and vagus nerve stimulation (VNS) also suggest favorable efficacy and tolerability, although further studies are needed.

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Section: Discussionsupporting

confidence: 69%

mentioning

confidence: 99%

Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options

et al. 2009

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“…More than 80% of individuals experience seizures (Williams et al., 2006), often with onset between 1 and 3 years of age (Buntinx et al., 1995; Valente et al., 2006; Thibert et al., 2009). Generalized seizure types are most common (Minassian et al., 1998; Buoni et al., 1999; Nolt et al., 2003; Galván‐Manso et al., 2005; Ohtsuka et al., 2005), and many individuals experience multiple seizure types (Ruggieri & McShane, 1998; Valente et al., 2006; Thibert et al., 2009). Patients with Angelman syndrome often have a characteristic electroencephalography (EEG) including occipital notched delta and rhythmic theta patterns.…”

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confidence: 99%

Low glycemic index treatment for seizures in Angelman syndrome

et al. 2012

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SUMMARYPurpose: The low glycemic index treatment (LGIT) is a high fat, limited carbohydrate diet used in the treatment of epilepsy. The purpose of this study was to assess the efficacy and tolerability of the LGIT for the treatment of refractory seizures in pediatric patients with Angelman syndrome. Methods: A pediatric Angelman syndrome cohort with refractory epilepsy was treated with the LGIT and followed prospectively over 4 months. Parents recorded a daily seizure log for a minimum of 1 month prior to the start of treatment as well as throughout the LGIT trial. Electroencephalography (EEG) and neuropsychological assessments (Scales of Independent Behavior-Revised and the Vineland Adaptive Behavior Scales-2nd Edition were obtained for each subject at both baseline and 4-month follow-up time points. Clinical evaluations of subjects were completed by a neurologist and dietitian at the time of enrollment, as well as following both the first and fourth months of dietary therapy. At each time point, blood for laboratory chemistries was drawn and anthropometric measures were obtained. Key Findings: Six children (mean age 3.3 years, range 1.1-4.8) with genetically confirmed Angelman syndrome initiated the LGIT, and completed the trial with no significant adverse events. Cohort averages for indices of seizure severity were as follows: age of 1.6 years at seizure onset, 3 lifetime antiepileptic drugs tried (range 1-6), and baseline seizure frequency of 10.1 events/week (range: 0.4-30.9). All subjects had a decrease in seizure frequency on the LGIT, with five of six exhibiting >80% seizure frequency reduction. All posttrial EEG studies showed improvement and three of four children with epileptiform activity on his or her baseline EEG had no discharges present on follow-up EEG. Developmental gains were noted by parents in all cases, although few of these neurocognitive gains were statistically significant on neuropsychological assessment. Significance: This is the first prospective study assessing the LGIT for epilepsy. Our results indicate that this dietary therapy is highly effective in treating Angelman syndrome-related seizures. The diet was well tolerated by subjects as evidenced by five of six subjects remaining on the LGIT after completion of the trial. Beyond the prospective trial window, all five subjects who remained on the diet had >90% seizure reduction after 1 year of LGIT therapy. Despite the small sample size in this prospective study, the results indicate a potentially higher degree of efficacy of the LGIT for the Angelman syndrome population than that observed in the general epilepsy population. Although this study is too small to make definitive recommendations, these results suggest that the LGIT is a promising treatment option for Angelman syndromerelated epilepsy.

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“…Often the convulsions are refractory to therapy. EEG is characteristic and demonstrates two types of epileptic discharge: burst of high-voltage frontal dominant activity (2-3 c/s) associated with spikes and sharp waves and bursts of occipital dominant high-voltage activity (3-4 c/s) associated with spikes [32]. …”

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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Relationship between severity of epilepsy and developmental outcome in Angelman syndrome

Cited by 25 publications

References 16 publications

Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options

Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options

Low glycemic index treatment for seizures in Angelman syndrome

Epilepsy and chromosomal abnormalities

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