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

Abstract

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.

The burden of rare diseases

“…According to a National Vital Statistics Report in the United States in 2016 (Heron, ), congenital malformations, deformations and chromosomal abnormalities represented 22.2% of all deaths in neonates, while it represented 20.8% of all infant deaths (leading cause in this group), and 10.7% from 1 to 4 years of age (all races and origins, both sexes). In Japan, congenital malformations and chromosomal anomalies accounted for a greater percentage, 35.7% of the total number of deaths in infants (Soneda et al, ). Of note, the percentage of deaths due to congenital anomalies is not the same as the percentage of death in children affected by a congenital anomaly; in fact, the latter can be much higher.…”

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

“…7–9 We noted that STATseq-based diagnosis enabled such prognostic determination and discussion of initiation of palliative care when the prognosis was dismal. 8–12,16,18 Indeed, palliative care was given to 30% of infants with STATseq diagnoses.…”

“…Collectively, they are the leading causes of infant mortality, particularly in neonatal intensive care units (NICUs), 4 and in paediatric intensive care units (PICUs). 8–18 The premise of genomic or precision medicine is that genetic diagnosis might allow supplementation of empirical, phenotype-driven management with genotype-differentiated treatment and genetic counselling. 19–26 Timely molecular diagnoses of suspected genetic disorders had been largely precluded in acutely ill infants because of substantial clinical and genetic heterogeneity and tardiness of getting results from standard genetic tests, such as gene sequencing.…”

Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia

“…According to our results, the prevalence of spastic quadriplegia is estimated to be approximately one per 200 cases with Down syndrome. Speculation on this prevalence is likely to be overestimated because of the characteristics of the Children's Hospital (Soneda et al 2012). However, the prevalence of spastic quadriplegia may be higher in the present study group with Down syndrome than in the general population, reported to be approximately 2.0-2.5 per 1000 live births (Odding et al 2006).…”