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236 Long-term outcome of West syndrome after individualized combined therapy with ACTH and anti-epileptics
A37
Abstracts
236 Long-term outcome of West syndrome after individualized combined therapy with ACTH and anti-epileptics R KALM/iNCHEY, V BAUER Department of Paediatrics II, Semmelweis Medical University, Aim: To evaluate the long-term used in the last 10 years.
Budapest,
Hungary
efficacy of our therapy
Material and methods: Retrospective analysis of the data of 21 children with West syndrome treated with low-doses (20 IU/day) of ACTH (modified Hrachovy-scheme) combined with anti-epileptic drugs (mainly vigabatrine with valproate or carbamazepine). In the symptomatic group (13 children) the initial treatment was vigabatrine for 3 days; then in 11 children because of ineffectiveness and in two children because of later relapses, an ACTHcombination was started. In the cryptogenic group (eight children) the initial treatment was a combination. Nine children came early (less than 2.5 months) and 12 later into our department after onset of seizures. The average follow-up has been 4.6 years. Results: Long-term seizure-free status was achieved in 76.7% of the symptomatic and 87.5% of the cryptogenic group. A normal (or subnormal) intellectual level has been observed in 23.1% of the symptomatic and 50% of the cryptogenic group. The number of totally cured (seizure-f?ee, mentally normal) patients was three symptomatic and four cryptogenic (33% of the whole group). In cases of early treatment, good outcome has been more frequent. Concltlsion: Early treatment of West syndrome with low doses of ACTH combined with anti-epileptic drugs seems to be superior to ACTH or anti-epileptic drugs alone in terms of late outcome.
237 Benign neonatal familial convulsions: New clinical and genetic data R KALMANCHEY, 0 STEINLEIN’
G SARKijZY,
G BiLTEKI, T SANDER’,
Department of Paediatrics II, Semmelweis Medical University, Budapest, Hungary, ‘Department of Psychiatry, Free University, Berlin; ‘lnstitut of Human Genetics, University of Bonn, Germany
Benign neonatal familial convulsions (BNFC) is a clinically well-defined disorder with autosomal dominant inheritance (often with incomplete penetrance). Genes of the disorder have been localized previously to loci 20q13.3 and 8q24. Aim of study: To analyse the clinical characteristics and molecular genetic background of the Hungarian patient population. Material: Six families with 18 affected persons were clinically examined; four families with 12 affected and seven healthy members were genetically tested. Methods: Clinical data collecting SSCA together with heteroduplex
and linkage analysis.
analysis;
Results: 1) In one family the convulsions were serious, even fatal in one member. 2) The clinical electrophysiological characteristics of the convulsions are similar in individual families, but there are differences between families. 3) In one family breath-holding spells occurred later in an affected child. 4) Molecular genetical studies showed no mutations in the previously published gene loci (KCNQ2 and KCNQ3). Conclusions: 1) Convulsions are not always benign; fatal outcome is also possible. 2) Genetical heterogeneity can be suspected. 3) Other genes, or other mutations of the previously examined putative genes, are likely to be involved in the pathogenesis, which needs further examination.
145
Developmental issues in children with West syndroie (infantile spasms) S KIEL’, K A MANSFIELD’ ‘University of Alabama at Birmingham, Birmingham, Alabama, USA; 2Dallas Pediatric Neurology Associates, Dallas, Texas, USA
West syndrome is a catastrophic epilepsy of early childhood that occurs throughout all socioeconomic strata and ethnic backgrounds. Its occurrence is almost exclusive to children under 12 months of age. Children with West syndrome are at risk for significant neurological sequelae including long-term seizures, and cognitive and developmental delays regardless of aetiology or course of treatment. The purposes of this study are to 1) determine risk factors that impact the development of children with West syndrome, and 2) identify developmental issues faced by their caregivers. We have defined West syndrome as children having an EEG pattern consistent with hypsarrhythmia, modified hypsarrhythmia or multifocal spike and wave associated with clinical infantile spasms. In low birth weight infants, previous studies have investigated developmental and cognitive outcomes using the Denver Prescreening Developmental Questionnaire (PDQ) and the Revised Denver Prescreening Developmental Questionnaire (RPDQ). We are using the Denver Prescreening Questionnaire II (PDQ-II) which is a series of questions designed for parents to answer regarding the development of their children from birth to 6 years of age. A convenience sample of 100 children with metropolitan cities in the USA. Aetiology and demographic data were obtained by chart review. Questionnaires (PDQ-II), along with selfaddressed stamped envelopes for their return, were mailed to the families of these 100 children. The willingness of the parents/guardians to answer the questionnaire implies their consent to participate. Results of this study are pending at the time of the abstract submission. We are hopeful that this study will assist in the identification of children to follow prospectively for outcome, as well as specific risk factors associated with developmental delays in children with West syndrome.
Abstracts
236 Long-term outcome of West syndrome after individualized combined therapy with ACTH and anti-epileptics R KALM/iNCHEY, V BAUER Department of Paediatrics II, Semmelweis Medical University, Aim: To evaluate the long-term used in the last 10 years.
Budapest,
Hungary
efficacy of our therapy
Material and methods: Retrospective analysis of the data of 21 children with West syndrome treated with low-doses (20 IU/day) of ACTH (modified Hrachovy-scheme) combined with anti-epileptic drugs (mainly vigabatrine with valproate or carbamazepine). In the symptomatic group (13 children) the initial treatment was vigabatrine for 3 days; then in 11 children because of ineffectiveness and in two children because of later relapses, an ACTHcombination was started. In the cryptogenic group (eight children) the initial treatment was a combination. Nine children came early (less than 2.5 months) and 12 later into our department after onset of seizures. The average follow-up has been 4.6 years. Results: Long-term seizure-free status was achieved in 76.7% of the symptomatic and 87.5% of the cryptogenic group. A normal (or subnormal) intellectual level has been observed in 23.1% of the symptomatic and 50% of the cryptogenic group. The number of totally cured (seizure-f?ee, mentally normal) patients was three symptomatic and four cryptogenic (33% of the whole group). In cases of early treatment, good outcome has been more frequent. Concltlsion: Early treatment of West syndrome with low doses of ACTH combined with anti-epileptic drugs seems to be superior to ACTH or anti-epileptic drugs alone in terms of late outcome.
237 Benign neonatal familial convulsions: New clinical and genetic data R KALMANCHEY, 0 STEINLEIN’
G SARKijZY,
G BiLTEKI, T SANDER’,
Department of Paediatrics II, Semmelweis Medical University, Budapest, Hungary, ‘Department of Psychiatry, Free University, Berlin; ‘lnstitut of Human Genetics, University of Bonn, Germany
Benign neonatal familial convulsions (BNFC) is a clinically well-defined disorder with autosomal dominant inheritance (often with incomplete penetrance). Genes of the disorder have been localized previously to loci 20q13.3 and 8q24. Aim of study: To analyse the clinical characteristics and molecular genetic background of the Hungarian patient population. Material: Six families with 18 affected persons were clinically examined; four families with 12 affected and seven healthy members were genetically tested. Methods: Clinical data collecting SSCA together with heteroduplex
and linkage analysis.
analysis;
Results: 1) In one family the convulsions were serious, even fatal in one member. 2) The clinical electrophysiological characteristics of the convulsions are similar in individual families, but there are differences between families. 3) In one family breath-holding spells occurred later in an affected child. 4) Molecular genetical studies showed no mutations in the previously published gene loci (KCNQ2 and KCNQ3). Conclusions: 1) Convulsions are not always benign; fatal outcome is also possible. 2) Genetical heterogeneity can be suspected. 3) Other genes, or other mutations of the previously examined putative genes, are likely to be involved in the pathogenesis, which needs further examination.
145
Developmental issues in children with West syndroie (infantile spasms) S KIEL’, K A MANSFIELD’ ‘University of Alabama at Birmingham, Birmingham, Alabama, USA; 2Dallas Pediatric Neurology Associates, Dallas, Texas, USA
West syndrome is a catastrophic epilepsy of early childhood that occurs throughout all socioeconomic strata and ethnic backgrounds. Its occurrence is almost exclusive to children under 12 months of age. Children with West syndrome are at risk for significant neurological sequelae including long-term seizures, and cognitive and developmental delays regardless of aetiology or course of treatment. The purposes of this study are to 1) determine risk factors that impact the development of children with West syndrome, and 2) identify developmental issues faced by their caregivers. We have defined West syndrome as children having an EEG pattern consistent with hypsarrhythmia, modified hypsarrhythmia or multifocal spike and wave associated with clinical infantile spasms. In low birth weight infants, previous studies have investigated developmental and cognitive outcomes using the Denver Prescreening Developmental Questionnaire (PDQ) and the Revised Denver Prescreening Developmental Questionnaire (RPDQ). We are using the Denver Prescreening Questionnaire II (PDQ-II) which is a series of questions designed for parents to answer regarding the development of their children from birth to 6 years of age. A convenience sample of 100 children with metropolitan cities in the USA. Aetiology and demographic data were obtained by chart review. Questionnaires (PDQ-II), along with selfaddressed stamped envelopes for their return, were mailed to the families of these 100 children. The willingness of the parents/guardians to answer the questionnaire implies their consent to participate. Results of this study are pending at the time of the abstract submission. We are hopeful that this study will assist in the identification of children to follow prospectively for outcome, as well as specific risk factors associated with developmental delays in children with West syndrome.