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Apo E genotype and cerebral palsy
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e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 6 7 ee 7 9
gestational age was 35 weeks. The three most common CP aetiologies were asphyxia (62.5%), low birth weight (45.6%), and prematurity (44.5%); CP types were spastic (87.5%), dyskinetic/ dystonic (6.0%), and ataxic-hypotonic (4.1%). The affected parts of the body for these paediatric CP patients were quadriplegic (54.0%), diplegic (31.2%) and hemiplegic (13.7%). Mean z-scores for weight-for-age, height-for-age, head circumference-for-age, using Neyzi growth standards, at birth were -2.11 ± 0.07, -1.28 ± 0.14-, and, -0.83 ± 0.24; whereas, at the time of enrolment, mean zscores were -1.95 ± 0.07, -1.7 ± 0.07, and -2.83 ± 0.07, respectively. Gomez classification of malnutrition derived from weight-for-age percentile revealed that 86.7% had 3rd degree (percentile<60), 4.6% had 2nd degree (percentile60-75) and 3.0 had 1st degree (percentile76-90) of malnutrition. According to physician questionnaires, 634(57.2%) of sampled paediatric CP patients were malnourished, and the physicians considered nutritional management as a priority. Conclusion: This cross-sectional survey provided valuable information about malnutrition and paediatric cerebral palsy patients in Turkey. This data may be utilized for future proactive strategies in the prevention and treatment of malnutrition in this population.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1174 P1-134 Apo E genotype and cerebral palsy Evren Gumus, Oguz Cilingir, Coskun Yarar, Kursat Bora Carman, Muhsin Ozdemir, Ozan Kocak, Sibel Lacinel Gurlevik, Sevlhan Artan, Beyhan Durak Aras. Eskisehir Osmagazi University Faculty of Medicine Department of Genetics, Turkey Objective: Apolipoproein E is one of the basic lipoprotein in the central nervous system. Apo E is a polymorphic protein and present three major variants. These isoforms are ε2, ε3, ε4 and this difference is due to only one amino acid change at positions 112 and 158. The different binding to lipids by ApoE isoforms E2 and E4 results in an increased risk for late onset Alzheimer Disease(LOAD), depression, neurodevelopmental disorders and lipoprotein diseases. Purpose of our study was demonstrate the association of Apo E variants with cerebral palsy and cerebral palsy accompanying findings. Methods: DNA was analyzed in blood sample from 78 child with cerebral palsy and 60 healthy child control. Genotypic variations were compared between groups and findings in the case group. Results: Apo E ε2 and ε4 allles were meaningful more frequent in the case group (p<0.05). Apo E ε3 allele was more frequent in the healhty controls. Apo E ε2/ε4 genotype seen %29 in case group but not found in healhty control group. A statistically significant difference was detected in patients with apolipoprotein ε4 alleles in relation to pre-eclampsia compared to patients without ε4 alleles. In the patient group with apolipoprotein ε4 or ε2 alleles, the rate of emergency cesarean section was found to be statistically significant and higher than the group with ε3 allele. Conclusion: Our data show that the Apo E alleles may be effective in the development of cerebral palsy and may be associated with some clinical manifestations in patients.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1175
P1-135 Unbalanced translocation affecting the long arms of chromosomes 10 and 22 causes complex syndromes with very severe neuro-developmental delay, speech impairment, autistic behavior and epilepsy Emanuele G. Coci, Andrea Auhuber, Anna Langenbach, Kristin Mrasek, Joachim Riedel, Andreas Leenen, Thomas Lu¨cke, Thomas Liehr. Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany Objective: Isolated abnormalities in terminal regions of chromosome 10q and 22q were rarely described in patients affected by neuro-psychological impairment, abnormal facies and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes, playing a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. Methods: By using clinical, neuro-radiological, neuro-physiological and genetic assessment, we studied 3 siblings affected by 2 different phenotyps of very severe neuro-psychological impairment with structural physical abnormalities, epilepsy and body overgrowth. Results: The genetic analysis revealed 2 different unbalanced translocations t(10;22) (q26.13;q13.32) of genetic material between the long arms of these 2 chromosomes, deriving from the maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in two patients and, respectively, the simultaneous trisomy distal q10 and monosmy distal q22 in one patient. Conclusion: To the best of our knowledge, here we describe for the first time a causal association between unbalanced translocation t(10;22) affecting the long arms of both chromosomes, and a very severe neuro-developmental delay in 3 siblings.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1176 P1-136 A world of opportunity: Survey of neurosurgical Spina Bifida care across the globe A. Jimenez-Gomez, H. Castillo, C. Burckart, J. Castillo. Department of Child Neurology and Developmental Neuroscience, Texas Children's Hospital/Baylor College of Medicine, Houston, TX, United States Objective: New technologies continually advance the standard of care for patients with Neurodevelopmental Disabilities, who receive services through multidisciplinary teams across the lifespan. Recently, in-utero interventions for Spina Bifida (SB) have received considerable attention among developed nations; less attention has been given to conventional approaches to SB and hydrocephalus in low-resource settings. The purpose of our study was to explore the history and current forms of neurosurgical management in spina bifida and hydrocephalus across the globe and to describe successful models of care in low-resource settings. Methods: A PubMed® search was performed to identify articles by querying the terms (spina bifida AND neurosurgery). Articles were excluded if no management guidance was offered. Those included were classified according to management focus, country of origin, and stratified by World-Bank income level. Results: A total of 3,691 articles were identified; 314 met
e u r o p e a n j o u r n a l o f p a e d i a t r i c n e u r o l o g y 2 1 ( 2 0 1 7 ) e 6 7 ee 7 9
gestational age was 35 weeks. The three most common CP aetiologies were asphyxia (62.5%), low birth weight (45.6%), and prematurity (44.5%); CP types were spastic (87.5%), dyskinetic/ dystonic (6.0%), and ataxic-hypotonic (4.1%). The affected parts of the body for these paediatric CP patients were quadriplegic (54.0%), diplegic (31.2%) and hemiplegic (13.7%). Mean z-scores for weight-for-age, height-for-age, head circumference-for-age, using Neyzi growth standards, at birth were -2.11 ± 0.07, -1.28 ± 0.14-, and, -0.83 ± 0.24; whereas, at the time of enrolment, mean zscores were -1.95 ± 0.07, -1.7 ± 0.07, and -2.83 ± 0.07, respectively. Gomez classification of malnutrition derived from weight-for-age percentile revealed that 86.7% had 3rd degree (percentile<60), 4.6% had 2nd degree (percentile60-75) and 3.0 had 1st degree (percentile76-90) of malnutrition. According to physician questionnaires, 634(57.2%) of sampled paediatric CP patients were malnourished, and the physicians considered nutritional management as a priority. Conclusion: This cross-sectional survey provided valuable information about malnutrition and paediatric cerebral palsy patients in Turkey. This data may be utilized for future proactive strategies in the prevention and treatment of malnutrition in this population.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1174 P1-134 Apo E genotype and cerebral palsy Evren Gumus, Oguz Cilingir, Coskun Yarar, Kursat Bora Carman, Muhsin Ozdemir, Ozan Kocak, Sibel Lacinel Gurlevik, Sevlhan Artan, Beyhan Durak Aras. Eskisehir Osmagazi University Faculty of Medicine Department of Genetics, Turkey Objective: Apolipoproein E is one of the basic lipoprotein in the central nervous system. Apo E is a polymorphic protein and present three major variants. These isoforms are ε2, ε3, ε4 and this difference is due to only one amino acid change at positions 112 and 158. The different binding to lipids by ApoE isoforms E2 and E4 results in an increased risk for late onset Alzheimer Disease(LOAD), depression, neurodevelopmental disorders and lipoprotein diseases. Purpose of our study was demonstrate the association of Apo E variants with cerebral palsy and cerebral palsy accompanying findings. Methods: DNA was analyzed in blood sample from 78 child with cerebral palsy and 60 healthy child control. Genotypic variations were compared between groups and findings in the case group. Results: Apo E ε2 and ε4 allles were meaningful more frequent in the case group (p<0.05). Apo E ε3 allele was more frequent in the healhty controls. Apo E ε2/ε4 genotype seen %29 in case group but not found in healhty control group. A statistically significant difference was detected in patients with apolipoprotein ε4 alleles in relation to pre-eclampsia compared to patients without ε4 alleles. In the patient group with apolipoprotein ε4 or ε2 alleles, the rate of emergency cesarean section was found to be statistically significant and higher than the group with ε3 allele. Conclusion: Our data show that the Apo E alleles may be effective in the development of cerebral palsy and may be associated with some clinical manifestations in patients.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1175
P1-135 Unbalanced translocation affecting the long arms of chromosomes 10 and 22 causes complex syndromes with very severe neuro-developmental delay, speech impairment, autistic behavior and epilepsy Emanuele G. Coci, Andrea Auhuber, Anna Langenbach, Kristin Mrasek, Joachim Riedel, Andreas Leenen, Thomas Lu¨cke, Thomas Liehr. Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221 Celle, Germany Objective: Isolated abnormalities in terminal regions of chromosome 10q and 22q were rarely described in patients affected by neuro-psychological impairment, abnormal facies and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes, playing a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. Methods: By using clinical, neuro-radiological, neuro-physiological and genetic assessment, we studied 3 siblings affected by 2 different phenotyps of very severe neuro-psychological impairment with structural physical abnormalities, epilepsy and body overgrowth. Results: The genetic analysis revealed 2 different unbalanced translocations t(10;22) (q26.13;q13.32) of genetic material between the long arms of these 2 chromosomes, deriving from the maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in two patients and, respectively, the simultaneous trisomy distal q10 and monosmy distal q22 in one patient. Conclusion: To the best of our knowledge, here we describe for the first time a causal association between unbalanced translocation t(10;22) affecting the long arms of both chromosomes, and a very severe neuro-developmental delay in 3 siblings.
http://dx.doi.org/10.1016/j.ejpn.2017.04.1176 P1-136 A world of opportunity: Survey of neurosurgical Spina Bifida care across the globe A. Jimenez-Gomez, H. Castillo, C. Burckart, J. Castillo. Department of Child Neurology and Developmental Neuroscience, Texas Children's Hospital/Baylor College of Medicine, Houston, TX, United States Objective: New technologies continually advance the standard of care for patients with Neurodevelopmental Disabilities, who receive services through multidisciplinary teams across the lifespan. Recently, in-utero interventions for Spina Bifida (SB) have received considerable attention among developed nations; less attention has been given to conventional approaches to SB and hydrocephalus in low-resource settings. The purpose of our study was to explore the history and current forms of neurosurgical management in spina bifida and hydrocephalus across the globe and to describe successful models of care in low-resource settings. Methods: A PubMed® search was performed to identify articles by querying the terms (spina bifida AND neurosurgery). Articles were excluded if no management guidance was offered. Those included were classified according to management focus, country of origin, and stratified by World-Bank income level. Results: A total of 3,691 articles were identified; 314 met