Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

Abstract

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight-obesity, sleep apnea, congenital heart disease, and osteopenia-osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision-making and management of these medically complex individuals. The development of evidence-based clinical guidance will require an expanded clinical knowledge-base in order to move forward.

Accelerated bio‐cognitive aging in Down syndrome: State of the art and possible deceleration strategies

“…Accelerated aging in DS is evident in particular at the level of the central nervous system, and by the age of about 50 years, most of DS persons suffer from an early‐onset Alzheimer‐like dementia. Actually, dementia is the second more frequent medical condition after visual impairment present in adult DS persons (Capone et al, ), and by far the most relevant health problem, as it entails a loss of independence, a dramatic decrease in the quality of life, and it represents a risk factor of mortality, together with mobility restrictions and epilepsy (Coppus et al, ). Typical neuropathological hallmarks of Alzheimer’s disease (AD), including deposition of senile plaques containing amyloid beta‐peptide (Aβ), chronic oxidative stress, and neurofibrillary tangles composed of hyperphosphorylated tau protein are already present by the age of 40 years in DS persons (Lott, ).…”

Capturing the complexity of healthcare for people with Down syndrome in quality indicators - a Delphi study involving healthcare professionals and patient organisations

“…There was much discussion about de ning the coverage of the QI-set. Some participants preferred to include only medical QIs, whereas others were convinced that a QI-set should cover disciplines/services outside healthcare, such as support staff of assisted living facilities, in order to re ect the complexity of healthcare for people with DS [5,30]. However, based on our results (achieved consensus) we conclude that participants prefer to limit the coverage of the QI-set to the medical domain (including psychological care).…”

Capturing the complexity of healthcare for people with Down syndrome in quality indicators - a Delphi study involving healthcare professionals and patient organisations

“…There was much discussion about defining the coverage of the QI-set. Some participants preferred to include only medical QIs, whereas others were convinced that a QI-set should cover disciplines/services outside healthcare, such as support staff of assisted living facilities, in order to reflect the complexity of healthcare for people with DS [5,29]. However, based on our results (achieved consensus) we conclude that participants prefer to limit the coverage of the QI-set to the medical domain (including psychological care).…”

“…However, even if the coverage of the QI-set will be limited to the medical domain, it will, due to the multi-morbidity related to DS [5,29], include a lot of different disciplines, and many quality domains.…”