Biomedical subjects

Sara Kivity

Publications and source records attributed to Sara Kivity.

7 recordsLinked to original sources

PubMed2006

Panayiotopoulos syndrome: a consensus view.

The aim of this paper is to promote the correct classification of, and provide guidelines on, the diagnosis and management of Panayiotopoulos syndrome (PS). An international consortium of established researchers in the field collaborated to produce a consensus document. The resulting document defines PS, characterizes its electro-clinical features, considers its likely pathogenesis, and provides guidance on appropriate management. We conclude that PS is a common idiopathic, benign seizure disorder of childhood, which should be classified as an autonomic epilepsy, rather than an occipital epilepsy.

Child↗

PubMed2005

Cognitive function in idiopathic generalized epilepsy of childhood.

This study evaluated the cognitive profiles of children with idiopathic generalized epilepsy (IGE), uniformly treated with valproic acid with well-controlled seizures. Twenty-four were neuropsychologically evaluated. They comprised: 14 females, 10 males: 12 with generalized tonic-clonic seizures (GTCS), mean age 14y 4mo, SD ly 7mo, range 12y to 16y 4 mo; 12 with absence seizures (AS]) mean age 14y 5mo, SD ly 10mo, range 11y to 16y 4mo, with intellectual abilities within the normal range and age-appropriate scholastic skills, and 20 healthy controls (12 females, 8 males; mean age 14y 5mo, SD 1y 10mo, range 10y 7mo to 16y 7mo). As a group, children with IGE performed significantly poorer in all tests (non-verbal and verbal attention, verbal learning and memory, word fluency, and controlled sequential fine motor responses) excluding non-verbal memory. Analysis according to type of seizure revealed that both patient groups (AS and GTCS) had an attention deficit, whereas only children with AS showed deficits in verbal learning and memory, word fluency, and controlled fine motor responses. These results suggest a long-term risk of learning impairment for children with IGE, even if they have normal intelligence and their seizures are well controlled.

Adolescent↗

PubMed2004

Long-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hormone.

PURPOSE: To evaluate the outcome of children with cryptogenic infantile spasms treated with high-dose synthetic adrenocorticotropic hormone (ACTH) and the relation between early treatment, within 1 month of onset, and outcome. METHODS: We assessed the long-term cognitive and seizure outcomes of 37 patients with cryptogenic infantile spasms (onset, age 3 to 9 months) receiving standardized treatment regimen of high-dose tetracosactide depot, 1 mg IM every 48 h for 2 weeks, with a subsequent 8- to 10-week slow taper and followed by oral prednisone, 10 mg/day for a month, with a subsequent slow taper for 5 months or until the infant reached the age of 1 year, whichever came later. Development was assessed before treatment. Seizure outcomes were followed up prospectively. Cognitive outcomes were determined after 6 to 21 years and analyzed in relation to treatment lag and pretreatment regression. RESULTS: Twenty-two infants were treated within 1 month of onset of infantile spasms, and 15 after 1 to 6.5 months. Normal cognitive outcome was found in all 22 (100%) patients of the early-treatment group, and in 40% of the late-treatment group. Normal cognitive outcome was found in all 25 (100%) patients who had no or only mild mental deterioration at presentation, including four in the late-treatment group but in only three of the 12 patients who had had marked or severe deterioration before treatment. CONCLUSIONS: Early treatment of cryptogenic infantile spasms with a high-dose ACTH protocol is associated with favorable long-term cognitive outcomes. Once major developmental regression lasts for a month or more, the prognosis for normal cognitive outcome is poor. Further studies are needed on the optimal treatment regimen for this disorder.

Administration, Oral↗

PubMed2004

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

PURPOSE: In families with idiopathic generalized epilepsy (IGE), multiple IGE subsyndromes may occur. We performed a genetic study of IGE families to clarify the genetic relation of the IGE subsyndromes and to improve understanding of the mode(s) of inheritance. METHODS: Clinical and genealogic data were obtained on probands with IGE and family members with a history of seizures. Families were grouped according to the probands' IGE subsyndrome: childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and IGE with tonic-clonic seizures only (IGE-TCS). The subsyndromes in the relatives were analyzed. Mutations in genes encoding alpha1 and gamma 2 gamma-aminobutyric acid (GABA)-receptor subunits, alpha1 and beta1 sodium channel subunits, and the chloride channel CLC-2 were sought. RESULTS: Fifty-five families were studied. 122 (13%) of 937 first- and second-degree relatives had seizures. Phenotypic concordance within families of CAE and JME probands was 28 and 27%, respectively. JAE and IGE-TCS families had a much lower concordance (10 and 13%), and in the JAE group, 31% of relatives had CAE. JME was rare among affected relatives of CAE and JAE probands and vice versa. Mothers were more frequently affected than fathers. No GABA-receptor or sodium or chloride channel gene mutations were identified. CONCLUSIONS: The clinical genetic analysis of this set of families suggests that CAE and JAE share a close genetic relation, whereas JME is a more distinct entity. Febrile seizures and epilepsy with unclassified tonic-clonic seizures were frequent in affected relatives of all IGE individuals, perhaps representing a nonspecific susceptibility to seizures. A maternal effect also was seen. Our findings are consistent with an oligogenic model of inheritance.

Adolescent↗

PubMed2004

Congenital hydrocephalus and continuous spike wave in slow-wave sleep--a common association?

Early-onset hydrocephalus was identified as the common denominator in 5 of 12 consecutive patients with Landau-Kleffner syndrome or continuous spike wave in slow-wave sleep who presented during the last 6 years. This association seems to be more common than expected, and the course of epileptic disease and outcome differs from that of previous reports. We present the clinical cases and discuss the possible connection between early hydrocephalus and epilepsy, especially continuous spike wave in slow-wave sleep. A retrospective analysis was undertaken of the clinical course and electroencephalographic (EEG) data before and after the development of continuous spike wave in slow-wave sleep in a group of five children with early-onset hydrocephalus identified in three epilepsy clinics in Israel. Landau-Kleffner syndrome or continuous spike wave in slow-wave sleep was identified in 12 patients during 6 years (1995-2000). Five patients had a history of early-onset hydrocephalus. Three patients had ventriculoperitoneal shunts; two of them were never shunted. Patients' seizures and continuous spike wave in slow-wave sleep epileptiform activity was resistant to appropriate anticonvulsant treatment. Pediatric neurologists and neurosurgeons should be aware of the association between continuous spike wave in slow-wave sleep and early-onset hydrocephalus. When a child with hydrocephalus presents with behavioral, cognitive, or motor deterioration, he or she should undergo sleep EEG in addition to investigation of shunt function. Our series demonstrated the presence of continuous spike wave in slow-wave sleep and localization-related epilepsy that did not originate from the shunt site. This group of patients is heterogeneous, and the exact trigger for continuous spike wave in slow-wave sleep development is still unclear.

Age Factors↗

PubMed2003

Linguistic processing in idiopathic generalized epilepsy: an auditory event-related potential study.

PURPOSE: Auditory processing of increasing acoustic and linguistic complexity was assessed in children with idiopathic generalized epilepsy (IGE) by using auditory event-related potentials (AERPs) as well as reaction time and performance accuracy. METHODS: Twenty-four children with IGE [12 with generalized tonic-clonic seizures (GTCSs), and 12 with absence seizures (ASs)] with average intelligence and age-appropriate scholastic skills, uniformly medicated with valproic acid (VPA), and 20 healthy controls, performed oddball discrimination tasks that consisted of the following stimuli: (a) pure tones; (b) nonmeaningful monosyllables that differed by their phonetic features (i.e., phonetic stimuli); and (c) meaningful monosyllabic words from two semantic categories (i.e., semantic stimuli). RESULTS: AERPs elicited by nonlinguistic stimuli were similar in healthy and epilepsy children, whereas those elicited by linguistic stimuli (i.e., phonetic and semantic) differed significantly in latency, amplitude, and scalp distribution. In children with GTCSs, phonetic and semantic processing were characterized by slower processing time, manifested by prolonged N2 and P3 latencies during phonetic processing, and prolongation of all AERPs latencies during semantic processing. In children with ASs, phonetic and semantic processing were characterized by increased allocation of attentional resources, manifested by enhanced N2 amplitudes. Semantic processing also was characterized by prolonged P3 latency. In both patient groups, processing of linguistic stimuli resulted in different patterns of brain-activity lateralization compared with that in healthy controls. Reaction time and performance accuracy did not differ among the study groups. CONCLUSIONS: AERPs exposed linguistic-processing deficits related to seizure type in children with IGE. Neurologic follow-up should therefore include evaluation of linguistic functions, and remedial intervention should be provided, accordingly.

Acoustic Stimulation↗

PubMed2003

Clinical experience with open-label topiramate use in infants younger than 2 years of age.

To assess the efficacy, safety, and tolerability of topiramate in infants younger than 24 months of age, we conducted an open-label, multicenter chart review study of infants who received topiramate. Twenty-eight patients were evaluated. All had refractory epilepsy. The mean age of seizure onset was 3.8 months (range 0-10 months). Refractory infantile spasms were the most common epilepsy syndrome. Among infants without infantile spasms, complex partial seizures were the prominent seizure type in eight, followed by simple partial seizures in six. Topiramate was prescribed as add-on therapy in 25 cases and a s monotherapy in 3 cases. Seven of the eight infantile spasms cases improved on topiramate therapy, attaining topiramate monotherapy in three infants. Half of the infants with other seizure types responded to topiramate. The average treatment duration among topiramate responders was 11 months. Topiramate was prescribed after a mean of 3.3 antiepilepsy drugs had been used in these infants. In no case was topiramate the first prescribed antiepilepsy drug. Adverse effects occurred only in five patients, leading to topiramate discontinuation in two patients. Topiramate was efficacious and well tolerated in infants younger than 24 months of age with refractory epilepsy. Prospective data are needed to corroborate this observation.

Age Factors↗