Medical and social aspects of the life course for adults with a skeletal dysplasia: a review of current knowledge.

PURPOSE: The paper examines the general literature and available research evidence on medical, health and social aspects of life for adults with skeletal dysplasia conditions causing profound short stature.

METHOD: The paper reports on a literature review using available medical, psychological and social sources.

RESULTS

There is a dearth of methodologically sound research evidence in this field, and this is particularly marked in areas such as transition to adulthood, ageing and medical, surgical and health experiences.

CONCLUSIONS

There are serious gaps in the available literature and research evidence is sparse and often based on biased samples of limited numbers. This means that it is difficult to get information beyond the anecdotal in assessing the health and social needs of this group of people, and in particular to define needs that are currently unmet. It also limits the scope of advice and information available to health professionals and others in the field who offer support to adults with the conditions and parents of newly-diagnosed babies and young children.