title: Joint health and functional ability in children with haemophilia who receive intensive replacement therapy.
abstract: Joint physical examination is an important outcome in haemophilia; however its relationship with functional ability is not well established in children with intensive replacement therapy. Boys aged 4-16 years were recruited from two European and three North American treatment centres. Joint physical structure and function was measured with the Haemophilia Joint Health Score (HJHS) while functional ability was measured with the revised Childhood Health Assessment Questionnaire (CHAQ₃₈. Two haemophilia-specific domains were created by selecting items of the CHAQ₃₈ that cover haemophilia-specific problems. Associations between CHAQ, HJHS, cumulative number of haemarthroses and age were assessed. A total of 226 subjects - mean 10.8 years old (SD 3.8) - participated; the majority (68%) had severe haemophilia. Most severe patients (91%) were on prophylactic treatment. Lifetime number of haemarthroses [median=5; interquartile range (IQR)=1-12] and total HJHS (median = 5; IQR=1-12) correlated strongly (ρ = 0.51). Total HJHS did not correlate with age and only weakly (ρ=-0.19) with functional ability scores (median=0; IQR=-0.06-0). Overall, haemarthroses were reported most frequently in the ankles. Detailed analysis of ankle joint health scores revealed moderate associations (ρ=0.3-0.5) of strength, gait and atrophy with lower extremity tasks (e.g. stair climbing). In this population, HJHS summating six joints did not perform as well as individual joint scores, however, certain elements of ankle impairment, specifically muscle strength, atrophy and gait associated significantly with functional loss in lower extremity activities. Mild abnormalities in ankle assessment by HJHS may lead to functional loss. Therefore, ankle joints may warrant special attention in the follow up of these children.
authors.affiliation: Child Development and Exercise Center, University Medical Center Utrecht, University Children's Hospital, Utrecht, The Netherlands.
authors.forename: W
authors.initials: W
authors.lastname: Groen
authors.forename: J
authors.initials: J
authors.lastname: van der Net
authors.forename: K
authors.initials: K
authors.lastname: Bos
authors.forename: A
authors.initials: A
authors.lastname: Abad
authors.forename: B-M
authors.initials: BM
authors.lastname: Bergstrom
authors.forename: V S
authors.initials: VS
authors.lastname: Blanchette
authors.forename: B M
authors.initials: BM
authors.lastname: Feldman
authors.forename: S
authors.initials: S
authors.lastname: Funk
authors.forename: P
authors.initials: P
authors.lastname: Helders
authors.forename: P
authors.initials: P
authors.lastname: Hilliard
authors.forename: M
authors.initials: M
authors.lastname: Manco-Johnson
authors.forename: P
authors.initials: P
authors.lastname: Petrini
authors.forename: N
authors.initials: N
authors.lastname: Zourikian
authors.forename: K
authors.initials: K
authors.lastname: Fischer
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000843:Ankle Joint / Q000503:physiopathology; D001779:Blood Coagulation Factors / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004185:Disability Evaluation; D006395:Hemarthrosis / Q000209:etiology* / Q000517:prevention & control; D006467:Hemophilia A / Q000188:drug therapy / Q000503:physiopathology*; D006801:Humans; D007592:Joint Diseases / Q000209:etiology / Q000503:physiopathology*; D007719:Knee Joint / Q000503:physiopathology; D008297:Male; D011795:Surveys and Questionnaires
chemical_list: D001779:Blood Coagulation Factors