Causes of death in patients with Down syndrome in 2014–2016: A population study in Japan

Abstract

Despite the higher mortality rates in patients with Down syndrome compared with the general Japanese population, the life span has dramatically increased in Japan and other countries. We aimed to clarify recent causes of death in patients with Down syndrome in Japan. We calculated proportionate mortality and standardized mortality odds ratios (SMORs) among all deaths registered with Down syndrome as the cause of death (ICD-10 code, Q90) in the Japanese National Death Registry Database in 2014-2016. In the study period, 762 in patients with Down syndrome died. The main causes of death were pneumonia/respiratory infections (20.5%), congenital malformations of the circulatory system (11.2%), other diseases of the circulatory system (9.2%), and aspiration pneumonia (8.4%). The SMORs (95% confidence intervals) were higher for natural death, defined as death of an elderly person with no other cause of death to be mentioned (55.73 [36.92-84.12]), early-onset Alzheimer's disease, defined as Alzheimer's disease with onset <65 years of age (29.36 [16.44-52.44]), aspiration pneumonia (18.33 [14.03-23.96]), pneumonia/ respiratory infections (8.11 [6.76-9.73]), congenital malformations of the circulatory system (8.07 [5.98-10.88]), and leukemia/lymphoma (2.16 [1.55-2.99]) but lower for malignant solid tumors (0.04 [0.02-0.06]) in patients with Down syndrome. Patients with Down syndrome had the greatest relative risk of dying from natural death, early-onset Alzheimer's disease, and respiratory illnesses, highlighting the need for appropriate medical, health, and welfare services.

Analysis of the circumstances associated with death and predictors of mortality in Spanish adults with Down syndrome, 1997–2014

“…The most frequent causes of admission of the patients who died during the index episode (respiratory, circulatory, and infectious diseases) are consistent with previous reports (Landes et al, 2020;Motegi, Yamaoka, et al, 2022;O'Leary et al, 2018).…”

“…The main causes of death in children and adults with DS have been thoroughly reported in previous population-level studies (Day et al, 2005;Englund et al, 2013;Landes et al, 2020;Motegi, Yamaoka, et al, 2022). Paediatric studies have identified specific risk factors for mortality during this stage, for example, blood disorders or congenital heart malformations (Cua et al, 2017;Frid et al, 1999;Taketani et al, 2003).…”

Management of Congenital Heart Diseases Associated with Down Syndrome

“…Mortality : Study from Japan states main causes of death were pneumonia/respiratory infections (20.5%), congenital malformations of the circulatory system (11.2%), other diseases of the circulatory system (9.2%), and aspiration pneumonia (8.4%)and in United States, Sweden, and Denmark congenital heart defects, respiratory infections, dementia, pneumonia, and childhood leukemia are main causes of death in patients with DS. 12 Down syndrome remains the most common chromosomal abnormality in live-born infants in the world today. The association between Down syndrome and congenital heart disease (CHD) is well known, and it is widely recognized that CHD contributes significantly to the morbidity of children with Down syndrome 13 .…”

Down’s syndrome (DS) in France: a nationwide observational study on prevalence &lt;65 years, mortality, comorbidities, and healthcare use in 2019 relative to non-DS individuals

“…Leukemia/lymphoma, pneumonia and low birthweight in the DS population are also associated with earlier death [12]. In adults with DS, the leading causes of death are congenital heart abnormalities and respiratory conditions [13][14][15]. There is a need to improve the treatment of aging-related disorders or diseases with an earlier onset in the context of DS, such as Alzheimer's disease, with an adaptation of transitions in healthcare [16][17][18][19][20][21].The prevalence of common disease conditions and causes of death have mostly been reported for speci c conditions and in a few recent large cohorts of individuals with DS or population studies not taking healthcare use into account [14,[20][21][22].…”

“…Leukemia/lymphoma, pneumonia and low birthweight in the DS population are also associated with earlier death [12]. In adults with DS, the leading causes of death are congenital heart abnormalities and respiratory conditions [13][14][15]. There is a need to improve the treatment of aging-related disorders or diseases with an earlier onset in the context of DS, such as Alzheimer's disease, with an adaptation of transitions in healthcare [16][17][18][19][20][21].…”