Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children’s hospital

• Published in: European journal of pediatrics Vol. 171; no. 2; pp. 301 - 305
• Main Authors: Soneda, Akiko, Teruya, Hideki, Furuya, Noritaka, Yoshihashi, Hiroshi, Enomoto, Keisuke, Ishikawa, Aki, Matsui, Kiyoshi, Kurosawa, Kenji
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.02.2012; Springer; Springer Nature B.V
• Subjects: Adolescent; Adult; Biological and medical sciences; Birth defects; Child; Child, Preschool; Congenital Abnormalities - epidemiology; Congenital diseases; Disease; Epidemiology; Female; General aspects; Genetic Diseases, Inborn - epidemiology; Genetic disorders; Health care; Hospitalization; Hospitalization - statistics & numerical data; Hospitals; Hospitals, Pediatric - statistics & numerical data; Humans; Infant; Infant mortality; Infant, Newborn; Intensive care; Intensive Care Units, Pediatric - statistics & numerical data; Japan - epidemiology; Male; Medical sciences; Medicine; Medicine & Public Health; Original Paper; Pediatrics; Public health. Hygiene; Public health. Hygiene-occupational medicine; Retrospective Studies; Young Adult; Japan; Children’s hospital; High-care unit; Malformation; Mortality; Genetic disease; Human; High; Pediatrics; Patient; Hospital environment; Health service; Unit; Epidemiology; Care; Proportion; Children's hospital; Hospital; Child
• DOI: 10.1007/s00431-011-1534-2
• ISSN: 0340-6199

Genetic disorders and birth defects account for a high percentage of the admissions in children’s hospitals. Congenital malformations and chromosomal abnormalities are the most common causes of infant mortality. So their effects pose serious problems for perinatal health care in Japan, where the infant mortality is very low. This paper describes the reasons for admissions and hospitalization at the high-care unit (HCU) of a major tertiary children’s referral center in Japan. We retrospectively reviewed 900 admission charts for the period 2007–2008 and found that genetic disorders and malformations accounted for a significant proportion of the cases requiring admission to the HCU. Further, the rate of recurrent admission was higher for patients with genetic disorders and malformations than for those with acquired, non-genetic conditions. Over the past 30 years, admissions attributed to genetic disorders and malformations has consistently impacted on children’s hospital and patients with genetic disorders and malformations form a large part of this facility. These results reflect improvements in medical care for patients with genetic disorders and malformations and further highlight the large proportion of cases with genetic disorders, for which highly specialized management is required. Moreover, this study emphasizes the need for involvement of clinical geneticists in HCUs at children’s hospitals.