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J Pediatr. 2017 Feb;181:261-266. doi: 10.1016/j.jpeds.2016.10.078. Epub 2016 Nov 28.

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome.

Author information

1
Division of Sports Medicine, Department of Orthopedics.
2
Institute for Relevant Clinical Data Analytics.
3
Division of Genetics and Genomics.
4
Department of Orthopedics, Boston Children's Hospital, Boston, MA.
5
Division of Sports Medicine, Department of Orthopedics; Harvard Medical School, Boston, MA. Electronic address: cynthia.stein@childrens.harvard.edu.

Abstract

OBJECTIVE:

To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS).

STUDY DESIGN:

A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period.

RESULTS:

Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55.6%) was hypermobility type. Patients had between 1 and 69 visits (median 4), and 764 diagnoses were recorded, most commonly laxity/instability, pain, subluxation, and scoliosis/spinal asymmetry. Nearly one-half of patients (46.8%) received a general diagnosis of pain because no more specific cause was identified, in addition to 8.3% who were diagnosed with chronic pain syndrome. The most common sites of presenting issue were knee (43.4%), back (32.2%), and shoulder (31.2%). Over three-fourths (77.1%) of patients had imaging. Most (88.1%) were prescribed physical therapy and/or other conservative measures, such as rest (40.5%), orthotics (35.6%), and medication (32.2%). Surgery was recommended to 28.8% of the study population.

CONCLUSIONS:

Many pediatric and adolescent patients with EDS experience joint pain, instability, and scoliosis, along with other musculoskeletal issues. Despite extensive workup, the etiology of pain may not be identified. Large numbers of office visits, imaging studies, treatment prescriptions, and specialist referrals indicate considerable use of medical resources and highlight a great need for injury prevention and additional study.

KEYWORDS:

adolescent; dislocation; joint; laxity; scoliosis; sports medicine; subluxation

PMID:
27908650
DOI:
10.1016/j.jpeds.2016.10.078
[Indexed for MEDLINE]

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