title: Physical therapy management of infants and children with hypophosphatasia.
abstract: Hypophosphatasia (HPP) is a rare inborn error of metabolism resulting in undermineralization of bone and subsequent skeletal abnormalities. The natural history of HPP is characterized by rickets and osteomalacia, increased propensity for bone fracture, early loss of teeth in childhood, and muscle weakness. There is a wide heterogeneity in disease presentation, and the functional impact of the disease can vary from perinatal death to gait abnormalities. Recent clinical trials of enzyme replacement therapy have begun to offer an opportunity for improvement in survival and function. The role of physical therapy in the treatment of the underlying musculoskeletal dysfunction in HPP is underrecognized. It is important for physical therapists to understand the disease characteristics of the natural history of a rare disease like HPP and how the impairment and activity limitations may change in response to medical interventions. An understanding of when and how to intervene is also important in order to optimally impact body function, lessen structural impairment, and facilitate increased functional independence in mobility and activities of daily living. Individualizing treatment to the child's needs, medical fragility, and setting (home/school/hospital), while educating parents, caregivers, and school staff regarding approved activities and therapy frequency, may improve function and development in children with HPP.
authors.affiliation: University of North Carolina, Division of Physical Therapy, Department of Allied Health Sciences, 1104 Willow Drive, Chapel Hill, NC 27517, USA. Electronic address: dawnphillipspt@gmail.com.
authors.forename: Dawn
authors.initials: D
authors.lastname: Phillips
authors.affiliation: Duke University, Division of Physical Therapy, School of Medicine, DUMC 104002, Durham, NC 27708, USA. Electronic address: laura.case@duke.edu.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Case
authors.affiliation: Shriners Hospitals for Children, Center for Metabolic Bone Disease and Molecular Research, 4400 Clayton Avenue, St. Louis, MO 63110, USA. Electronic address: dgriffin@shrinenet.org.
authors.forename: Donna
authors.initials: D
authors.lastname: Griffin
authors.affiliation: Health Sciences Centre, 820 Sherbrook Street MS107, Winnipeg, Manitoba R3A 1R9, Canada. Electronic address: kimberly_erin@hotmail.com.
authors.forename: Kim
authors.initials: K
authors.lastname: Hamilton
authors.affiliation: CSEU La Salle, Autonomous University of Madrid, Niño Jesús Paediatric Hospital, Avenida de Menéndez Pelayo, 65, 28009 Madrid, Spain. Electronic address: sergio.lerma@lasallecampus.es.
authors.forename: Sergio Lerma
authors.initials: SL
authors.lastname: Lara
authors.affiliation: Functional Outcomes Consultant, 401 Holly Lane, Chapel Hill, NC 27517, USA. Electronic address: beth.leiro@gmail.com.
authors.forename: Beth
authors.initials: B
authors.lastname: Leiro
authors.affiliation: Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Electronic address: jessica.monfreda@cchmc.org.
authors.forename: Jessica
authors.initials: J
authors.lastname: Monfreda
authors.affiliation: Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA; University of California, San Francisco Benioff Children's Hospital, 747 52nd Street, Oakland, CA 94609, USA. Electronic address: elainewestlakept@gmail.com.
authors.forename: Elaine
authors.initials: E
authors.lastname: Westlake
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 905 S. LaSalle Street, 4th Floor, GSRBI, Box 103856 DUMC, Durham, NC 27710, USA. Electronic address: priya.kishnani@duke.edu.
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005598:Fractures, Spontaneous / Q000503:physiopathology / Q000628:therapy; D005684:Gait / Q000502:physiology; D006801:Humans; D007014:Hypophosphatasia / Q000503:physiopathology / Q000628:therapy*; D007223:Infant; D008297:Male; D009048:Motor Skills / Q000502:physiology; D009139:Musculoskeletal Abnormalities / Q000503:physiopathology / Q000628:therapy*; D059352:Musculoskeletal Pain / Q000503:physiopathology / Q000628:therapy*; D026741:Physical Therapy Modalities
keywords: Fractures, spontaneous; Gait; Hypophosphatasia; Motor skills; Musculoskeletal pain; Physical therapy specialty