Characteristics of Adults with Down Syndrome: Prevalence of Age-Related Conditions

Abstract

Introduction: In the last decades, life expectancy of persons with Down syndrome (DS) has dramatically increased and it is estimated that they will be living as long as the general population within a generation. Despite being included among the progeroid syndromes, because of the presence of features typically observed in older adults, DS is still regarded as a disease of pediatric interest. Because limited knowledge is available on the clinical characteristics of adults with DS, this study aimed to assess clinical and non-clinical features of this population and to describe similarities to the geriatric population.Methods: In this study, we described 60 adults with DS evaluated at the Day Hospital of the Geriatric Department of the Policlinico A. Gemelli, Università Cattolica del Sacro Cuore in Rome. Individuals were assessed through a standardized protocol.Results: The mean age of study participants was 38 years (range, 18–58 years) and 42 (70.0%) were women. Geriatric conditions were highly prevalent: severe cognitive impairment was diagnosed in 39 (65.0%) participants, behavioral symptoms were present in 25 (41.7%), and functional impairment in 23 (38.3%). Six (10.0%) participants lived in institutions and 11 (18.3%) were diagnosed as obese. The mean number of drugs used was 2.4; use of psychotropic drugs was highly prevalent. The most common chronic diseases were thyroid problems (44, 73.3%), followed by mood disorders (19, 31.7%), osteoporosis (18, 30.0%), and cardiac problems (10, 16.7%). Geriatric conditions and chronic diseases were more prevalent among participants aged ≥40 years.Conclusion: Several similarities between older adults and adults with DS were observed. Comorbidities, geriatric conditions, cognitive and functional deficits, and social problems are highly prevalent in both populations, contributing to the high complexity of these patients’ assessment and treatment.

Cellular Stress Associated with Aneuploidy

“…Down syndrome is caused by the gain of an extra copy of chromosome 21 (trisomy 21) and accounts for ~1/800 live births (de Graaf et al, 2015). Affected individuals display varying levels of physical and mental disability and usually have reduced life expectancy (Carfi et al, 2014; Roper and Reeves, 2006). All the other autosomal aneuploidy results in death in utero or during childhood (trisomy 13, trisomy 18) (Brewer et al, 2002).…”

Adults with Down syndrome: a comprehensive approach to manage complexity

“…For this reason, an approach that favours care based on comprehensive assessment and close interaction between general practitioners and management team specialised in the area of DS has been proposed (Carfì et al . ; Carfì et al . ).…”

“…The clinical picture is often complicated by the presence of functional deficits, behavioural symptoms and nutritional and social problems (Carfì et al . ). This level of complexity requires the use of a comprehensive approach, in order to have a full understanding of the issues and needs of adults with DS (Carfì et al .…”

Mouse models of neurodegeneration: Know your question, know your mouse

“…For both humans and mice, we need to carefully tease apart the effects of normal aging from the effects of neurodegeneration. For example, this is an issue when investigating AD that arises in individuals with Down's syndrome, because premature aging is also part of the clinical picture of Down's syndrome (41). Moreover, a related point for mouse models is that individual inbred mouse lines may have alleles that predispose them to progressive phenotypes as the mice age, such as retinal degeneration, hearing loss, and other defects, even before any mutation is placed onto these strains (42).…”