Medical Needs of Adults with Down Syndrome Presenting at a Regional Medical and Rehabilitation Center in Japan

Abstract

Background Down syndrome (DS) is the most frequent chromosomal condition; however, knowledge about associated health issues in adulthood is inadequate. We aimed to obtain health information from Japanese adults with DS. MethodsWe conducted a retrospective chart review of 151 patients with DS who visited the Internal Medicine Outpatient Department of the Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled. ResultsEndocrine disorders, such as obesity, hyperlipidemia, and hyperuricemia, were most common in both adulthood (≤ 40 years) and senescence (> 40 years), whereas neurological diseases were more prevalent in senescence. Even patients with DS in their 20s or younger had multimorbidity that increased with age. Only 21 patients (13.9%) with DS visited our hospital with referral letters from pediatricians; 94 patients (62.3%) visited without referral letters from other medical institutions. Patients without a referral letter had a mean of 3.1 comorbidities per patient.Moreover, medical care for people with DS was interrupted during childhood in some cases.Conclusions From our results, to prevent and detect comorbidities in patients with DS, there is need for continuous medical care from childhood to adulthood. Recently, individuals with DS have been diagnosed using chromosome testing and genetic counseling. Clinical geneticists and genetic counselors can support patients with DS and their caregivers in achieving appropriate health care and well-being on their own by seamlessly engaging them throughout childhood and adulthood.

Health Checks for People with Down Syndrome: A Pooled Analysis of Three Randomized Controlled Trials

“…People with Down syndrome have syndrome-specific co-morbidity with the most prevalent conditions being obesity, epilepsy, constipation, ataxic/gait disorders, and visual and hearing impairment [7,8]. In a recent retrospective chart review of 151 people with Down syndrome attending a rehabilitation centre, Kanbara and colleagues [9] reported a prevalence of endocrine disorders, particularly obesity, of 70%. The most common cause of death is respiratory infection, in part related to immunodeficiencies [10].…”

Effects of substituting sedentary time with physical activity on body mass index in Japanese adults with Down syndrome: A cross-sectional study

“…It is characterized by short stature, hypotonia, and mild intellectual disabilities [ 1 , 2 ]. Obesity is a health challenge in children and adults with Down syndrome [ [3] , [4] , [5] ]. Moreover, as the life expectancy of individuals with Down has increased [ [6] , [7] , [8] ], efforts to prevent obesity at an early age have become increasingly important [ [9] , [10] , [11] ] .…”