TY - JOUR
T1 - Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)
AU - Ktena, Yiouli P.
AU - Paul, Scott M.
AU - Hauser, Natalie S.
AU - Sloan, Jennifer L.
AU - Gropman, Andrea
AU - Manoli, Irini
AU - Venditti, Charles P.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/9/1
Y1 - 2015/9/1
N2 - 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.
AB - 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.
KW - Basal ganglia
KW - Disabilities
KW - Methylmalonic acidemia
KW - Outcome
KW - Rehabilitation
UR - http://www.scopus.com/inward/record.url?scp=84939465714&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84939465714&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37127
DO - 10.1002/ajmg.a.37127
M3 - Article
C2 - 25959030
AN - SCOPUS:84939465714
SN - 1552-4825
VL - 167
SP - 2075
EP - 2084
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -