Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions

Launched by FREEMAN-SHELDON RESEARCH GROUP, INC. · Mar 1, 2011

Keywords

ClinConnect Summary

This study is a research project initiated by the graduate research student (Mikaela I. Poling) and assisted by the clinical genetics fellow and graduate student (Andrés Morales) in partial fulfilment the requirements for their Masters degrees in Clinical and Applied Physiology, under approval, direction, and supervision of the study PI (Rodger J. McCormick).

Mental Health and Congenital Deformities:

Apajasalo et al. (1998) found significantly decreased health-related quality of life versus controls among adults and youth ages with chondrodysplasias. Differences in adult scores were in th...

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Freeman-Sheldon syndrome,
• • Sheldon-Hall syndrome,
• • Distal arthrogryposis type 1, or
• • distal arthrogryposis type 3
• • Deceased probands with enough clinical information available to satisfy study requirements
• • Probands who participated in a prior Freeman-Sheldon Research Group (FSRG)-study are automatically accepted, since their diagnoses have been confirmed by FSRG clinical faculty.
• • Probands with a reported qualifying diagnosis, who have not participated in a prior FSRG-study, will be required to complete the complete a survey from a prior study and provide photographs and any requested medical records to confirm their diagnoses.
• • Family members and other close contacts may enrol, so long as they have either resided with or had substantial and prolonged contact with a proband, who has an FSRG-verified qualifying diagnosis. Investigators will make the final decision on a case-by-case basis, based on information provided.
• Exclusion Criteria:
• • Patients with other anomalies, not having one of the above syndromes, will not be accepted.
• • Deceased probands will not be accepted for analysis, without enough clinical data available to satisfy study data collection requirements.
• • Patients or parents of minor children not willing to give consent will not be included.
• • Family members or other contacts that neither resided with nor had substantial and prolonged contact with the proband.