Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)

Methylmalonic acidemia patients have complex rehabilitation needs that can be targeted to optimize societal independence and quality of life. Thirty‐seven individuals with isolated MMA (28 mut, 5 cblA, 4 cblB), aged 2–33 years, were enrolled in a natural history study, and underwent age‐appropriate...

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Published in:American journal of medical genetics. Part A 2015-09, Vol.167A (9), p.2075-2084
Main Authors: Ktena, Yiouli P., Paul, Scott M., Hauser, Natalie S., Sloan, Jennifer L., Gropman, Andrea, Manoli, Irini, Venditti, Charles P.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amino Acid Metabolism, Inborn Errors - rehabilitation
basal ganglia
Child
Child, Preschool
disabilities
Disabled Persons - rehabilitation
Female
Health Services Needs and Demand - statistics & numerical data
Humans
Male
methylmalonic acidemia
Neuroimaging - methods
Neurologic Examination - methods
outcome
Quality of Life
rehabilitation
Self Care - methods
Young Adult
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Summary:Methylmalonic acidemia patients have complex rehabilitation needs that can be targeted to optimize societal independence and quality of life. Thirty‐seven individuals with isolated MMA (28 mut, 5 cblA, 4 cblB), aged 2–33 years, were enrolled in a natural history study, and underwent age‐appropriate clinical assessments to characterize impairments and disabilities. Neurological examination and brain imaging studies were used to document movement disorders and the presence of basal ganglia injury. A range of impairments and disabilities were identified by a team of physical medicine experts. Movement disorders, such as chorea and tremor, were common (n = 31, 83%), even among patients without evidence of basal ganglia injury. Joint hypermobility (n = 24, 69%) and pes planus (n = 22, 60%) were frequent and, in many cases, under‐recognized. 23 (62%) patients required gastrostomy feedings. 18/31 patients >4 years old (58%) had difficulties with bathing and dressing. 16 of 23 school‐aged patients received various forms of educational support. Five of the 10 adult patients were employed or in college; three lived independently. Unmet needs were identified in access to rehabilitation services, such as physical therapy (unavailable to 14/31), and orthotics (unavailable to 15/22). We conclude that patients with MMA are challenged by a number of functional limitations in essential activities of mobility, self‐care, and learning, in great part caused by movement disorders and ligamentous laxity. Early assessment, referral, and implementation of age‐appropriate rehabilitation services should significantly improve independence and quality of life. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37127