Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment

Eriko Nishi, Mizue Takasugi, Rie Kawamura, Soichi Shibuya, Shigeru Takamizawa, Takehiko Hiroma, Tomohiko Nakamura, Tomoki Kosho

研究成果: Article

抄録

Management of children with trisomy 13 (T13) is controversial because of a paucity of evidence of the natural history, especially focusing on efficacy of treatment. There has been no report regarding natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, although several reports have suggested efficacy of cardiac surgery. To describe the detailed and comprehensive natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, we reviewed clinical information of 24 children with full T13 (15 boys, 9 girls) who were admitted to Nagano Children's Hospital from 1994 to 2016. Intensive neonatal and pediatric treatment without cardiac surgery was provided through careful discussion with the parents. We detailed accurate frequencies of complications, survival, underlying factors and the final modes of death, and psychomotor development of survivors. Unpublished complications including aortopulmonary window, pulmonary-ductus-descending aorta-trunk, biliary system abnormalities, eosinophilic enteritis, and neuroblastoma were described. Accurate frequencies of congenital heart defects (92%) and laryngomalacia and/or tracheomalacia (42%) were determined. The median survival time was 451 days and the 1-year survival rate was 54%. The major underlying factor associated with death was congenital heart defects and heart failure (63%) and the major final mode of death was heart failure (50%). Long-term survivors appeared to show slow but constant psychomotor development. Intensive neonatal and pediatric treatment without cardiac surgery for children with T13 is efficient for survival and psychomotor development, and could be a reasonable choice for parents having fetuses or children with T13.

元の言語English
ページ(範囲)1941-1949
ページ数9
ジャーナルAmerican Journal of Medical Genetics, Part A
176
発行部数9
DOI
出版物ステータスPublished - 01-09-2018

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Pediatrics
Thoracic Surgery
Natural History
Congenital Heart Defects
Therapeutics
Survival
Survivors
Laryngomalacia
Heart Failure
Parents
Tracheomalacia
Biliary Tract
Trisomy 13 syndrome
Thoracic Aorta
Neuroblastoma
Fetus
Survival Rate
Lung

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

これを引用

Nishi, Eriko ; Takasugi, Mizue ; Kawamura, Rie ; Shibuya, Soichi ; Takamizawa, Shigeru ; Hiroma, Takehiko ; Nakamura, Tomohiko ; Kosho, Tomoki. / Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. :: American Journal of Medical Genetics, Part A. 2018 ; 巻 176, 番号 9. pp. 1941-1949.
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abstract = "Management of children with trisomy 13 (T13) is controversial because of a paucity of evidence of the natural history, especially focusing on efficacy of treatment. There has been no report regarding natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, although several reports have suggested efficacy of cardiac surgery. To describe the detailed and comprehensive natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, we reviewed clinical information of 24 children with full T13 (15 boys, 9 girls) who were admitted to Nagano Children's Hospital from 1994 to 2016. Intensive neonatal and pediatric treatment without cardiac surgery was provided through careful discussion with the parents. We detailed accurate frequencies of complications, survival, underlying factors and the final modes of death, and psychomotor development of survivors. Unpublished complications including aortopulmonary window, pulmonary-ductus-descending aorta-trunk, biliary system abnormalities, eosinophilic enteritis, and neuroblastoma were described. Accurate frequencies of congenital heart defects (92{\%}) and laryngomalacia and/or tracheomalacia (42{\%}) were determined. The median survival time was 451 days and the 1-year survival rate was 54{\%}. The major underlying factor associated with death was congenital heart defects and heart failure (63{\%}) and the major final mode of death was heart failure (50{\%}). Long-term survivors appeared to show slow but constant psychomotor development. Intensive neonatal and pediatric treatment without cardiac surgery for children with T13 is efficient for survival and psychomotor development, and could be a reasonable choice for parents having fetuses or children with T13.",
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Nishi, E, Takasugi, M, Kawamura, R, Shibuya, S, Takamizawa, S, Hiroma, T, Nakamura, T & Kosho, T 2018, 'Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment', American Journal of Medical Genetics, Part A, 巻. 176, 番号 9, pp. 1941-1949. https://doi.org/10.1002/ajmg.a.40350

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. / Nishi, Eriko; Takasugi, Mizue; Kawamura, Rie; Shibuya, Soichi; Takamizawa, Shigeru; Hiroma, Takehiko; Nakamura, Tomohiko; Kosho, Tomoki.

:: American Journal of Medical Genetics, Part A, 巻 176, 番号 9, 01.09.2018, p. 1941-1949.

研究成果: Article

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