title: Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
abstract: 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.
authors.affiliation: Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Yiouli P
authors.initials: YP
authors.lastname: Ktena
authors.affiliation: Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, Maryland.
authors.forename: Scott M
authors.initials: SM
authors.lastname: Paul
authors.affiliation: Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Natalie S
authors.initials: NS
authors.lastname: Hauser
authors.affiliation: Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Sloan
authors.affiliation: Center for Neuroscience Research (CNR), Children's National Medical Center, Washington, District of Columbia.
authors.forename: Andrea
authors.initials: A
authors.lastname: Gropman
authors.affiliation: Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Irini
authors.initials: I
authors.lastname: Manoli
authors.affiliation: Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Charles P
authors.initials: CP
authors.lastname: Venditti
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000534:rehabilitation*; D002648:Child; D002675:Child, Preschool; D006233:Persons with Disabilities / Q000534:rehabilitation*; D005260:Female; D006301:Health Services Needs and Demand / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D059906:Neuroimaging / Q000379:methods; D009460:Neurologic Examination / Q000379:methods; D011788:Quality of Life; D012648:Self Care / Q000379:methods; D055815:Young Adult
keywords: basal ganglia; disabilities; methylmalonic acidemia; outcome; rehabilitation