Prevalence of mental health conditions and pain in adults with skeletal dysplasia

  • Sarah E. Jennings
  • Colleen P. Ditro
  • Michael B. Bober
  • William G. Mackenzie
  • Kenneth J. Rogers
  • Laura Conway
  • Angela L. DukerEmail author



We sought to examine the prevalence of depression and anxiety in adults with skeletal dysplasias, and to assess any correlations with pain.


Participation was via an anonymous REDCap survey, which consisted of sociodemographic questions followed by the brief pain inventory-short form (BPI-SF), patient health questionnaire-8 (PHQ-8), and generalized anxiety disorder-7 (GAD-7) questionnaires. These assessed pain, depression, and anxiety respectively.


Of the 336 usable responses, 16.1% scored 10 or greater on the PHQ-8 consistent with current depression while 17.3% scored 10 or greater on the GAD-7 consistent with current anxiety. The majority of participants (76.2%) experienced pain, which was significantly associated with prior mental health diagnoses (p < 0.05). A total of 34% reported either a prior diagnosis of depression or scored 10 or greater on the PHQ-8, and 31% reported either a prior diagnosis of anxiety or scored 10 or greater on the GAD-7.


This study identified a substantial percentage of individuals with mental health concerns as well as pain in the adult skeletal dysplasia population. Further research is warranted to investigate barriers to service or treatment of mental health disorders as well as pain management.


Skeletal dysplasia Mental health Depression Anxiety Pain 



This study was supported by the Ellington Beavers Award for Intellectual Inquiry at Arcadia University. This work was conducted to fulfill a master’s degree requirement for the first author. We thank Little People of America for their cooperation, support, and promotion of this study, and the Genetic Counseling Department at Arcadia University for their support and assistance. Additionally, we would like to acknowledge Dr. Carol Matthews for recommending the PHQ8 and GAD7 survey tools for this project. We received permission from Charles S. Cleeland, PhD for use of the Brief Pain Inventory in this study. Last but not least, we would like to thank all the individuals who participated in this study.

Compliance with ethical standards

Conflict of interest

Colleen P. Ditro, DNP RN CPNP, Michael B. Bober, MD PhD, William G. Mackenzie MD, and Angela L. Duker, MS LCGC, are members of the Little People of America Medical Advisory Board. Otherwise, authors Sarah Jennings, MS LCGC, Colleen P. Ditro, DNP RN CPNP, Michael B. Bober, MD PhD, William G. Mackenzie, MD, Kenneth Rogers, PhD LAT ATC, Laura Conway, PhD MS LCGC, and Angela L. Duker, MS LCGC declare that they have no conflict of interest.

Ethical approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000.

Informed consent

Informed consent was obtained from all individuals included in the study. The requirement for documentation of informed consent was waived based on the applicable federal regulation.


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Genetic Counseling DepartmentArcadia UniversityGlensideUSA
  2. 2.Division of Clinical GeneticsSt. Christopher’s Hospital for ChildrenPhiladelphiaUSA
  3. 3.Department of OrthopaedicsNemours/Alfred I. duPont Hospital for ChildrenWilmingtonUSA
  4. 4.Division of OrthogeneticsNemours/Alfred I. duPont Hospital for ChildrenWilmingtonUSA

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