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Abstract
Aims
Limited information is available on impairments, activity limitations and participation restrictions in youth with Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic premature aging disease. The purposes were to: (1) describe range of motion (ROM), grip, pinch and quadriceps strength, functional balance, walking endurance, and gross motor limitations and participation restrictions; (2) evaluate the association between ROM impairments and age; and (3) evaluate the association between the Gross Motor Function Measure-88 (GMFM) scores and lower extremity (LE) ROM, quadriceps strength, and age.
Methods
Upper and LE ROM, grip, pinch and quadriceps strength, Timed Up and Go (TUG), Six Minute Walk Test, GMFM-88, and Canadian Occupational Performance Measure data were recorded for 38 participants with HGPS.
Results
All youth exhibited ROM impairments and most displayed decreased grip and pinch strength, walking endurance, and gross motor skills when compared to same-aged peers. However, the majority had good functional balance with TUG scores in the normal range. Participation restrictions included difficulty keeping up with peers when walking and difficulty completing activities of daily living. Some ROM measurements were negatively associated with age indicating that older participants had more extensive ROM limitation than younger participants.
Conclusions
Physical and occupational therapists can use this information when evaluating youth with HGPS, designing a plan of care, and providing treatment interventions.
Acknowledgments
We are grateful to all trial participants and their families for participation in this study.
Disclosure statement
LBG is volunteer medical director for The Progeria Research Foundation. Maria Fragala-Pinkham is a senior author of the PEDI-CAT. She does not receive royalties from the PEDI-CAT; however, Franciscan Children’s Hospital has received payment for her work and consultation on the PEDI-CAT from CRECare.
Additional information
Funding
Notes on contributors
Julie Malloy
Julie Malloy is an occupational therapist in the Department of Physical Therapy and Occupational Therapy at Boston Children’s Hospital. She primarily works in the outpatient setting with neonates to young adults with a wide variety of diagnoses.
Emily Berry
Emily Berry is a pediatric physical therapist with clinical expertise in neonatal and cardiac populations. Her research focuses on treatment interventions for children with cardiac conditions and rare diseases.
Annette Correia
Annette Correia is an occupational therapist and manager of operations for occupational therapy in the Department of Physical Therapy and Occupational Therapy at Boston Children's Hospital.
Maria Fragala-Pinkham
Maria Fragala-Pinkham is a pediatric physical therapist and manager of research and quality in the Department of Physical Therapy and Occupational Therapy at Boston Children's Hospital. Her clinical and research interests are in outcome measurement and treatment for children with cerebral palsy and genetic conditions.
Sarah Coucci
Sarah Coucci has her Doctorate in Physical Therapy. She is currently working in an outpatient setting with both pediatric and adult patients. Her areas of interest are orthopedics, sports medicine, and pediatrics.
Susan Riley
Susan Riley is a practicing physical therapist at the Massachusetts General Hospital and a board certified pediatric clinical specialist. Her research interests are in the area of neuromuscular disorders and cystic fibrosis.
Jessica Spratt
Jessica Spratt, PT, DPT is a physical therapist who works in Santa Barbara, CA as an independent consultant. Previously she worked in the Physical and Occupational Therapy Department at Boston Children's Hospital for 9 years working with inpatients with acute medical conditions.
Jessica Knight Pfaffinger
Jessica Knight Pfaffinger is an occupational therapist who formerly practiced at Boston Children's Hospital for three years. For the past eleven years, she has been practicing within a school system in Boston, MA. Her interests focus on supporting children and families with building independent living skills and pre-employment skills.
Joe Massaro
Joe Massaro had a PhD in mathematics/statistics and was a professor of Biostatistics, Mathematics and Statistics at Boston University until his passing in October 2022. He also had a long-reaching career as a consultant to many biopharmaceutical companies and research institutions, resulting in numerous drug approvals and scientific insights.
Rachel Ehrbar
Rachel Ehrbar is a doctoral student in the Department of Biostatistics at Boston University. She works on clinical trial data and her research interests include longitudinal clustering of trajectories.
Ralph D’Agostino
Ralph D’Agostino Sr., is Chairman of the Mathematics and Statistics Department and Professor of Mathematics/Statistics, Biostatistics and Epidemiology at Boston University. His major fields of research are clinical trials, epidemiology, prognostics models, longitudinal analysis, multivariate analysis, robustness, and outcomes/effectiveness research.
Ellen B. Gurary
Ellen B. Gurary is a Principal Biostatistician at a biotechnology company. Her doctoral research focused on innovative clinical trial design, and she has since worked in both early and late phase clinical trials across a number of therapeutic areas.
Leslie B. Gordon
Leslie B. Gordon, MD, PhD is the co-founder and Medical Director of The Progeria Research Foundation, Professor of Pediatrics (research) at Hasbro children’s Hospital, and co-investigator on Progeria clinical trials at Boston Children’s Hospital.
Monica E. Kleinman
Monica E. Kleinman is a pediatric critical care physician at Boston Children's Hospital and an Associate Professor of Anesthesia (Pediatrics) at Harvard University. She serves as the Principal Investigator for the Progeria Clinical Trials.