Joint health and functional ability in children with haemophilia who receive intensive replacement therapy.

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.

Hemophilia joint health score reliability study.

UNLABELLED: Measurement of joint health is critically important when assessing children with haemophilia. Few measures exist; they lack sensitivity to small changes, don't account for normal development and were never formally validated. To address these concerns, the Hemophilia Joint Health Score (HJHS) was developed by modifying existing scores. OBJECTIVE: To test the inter-observer and test-retest reliability of the HJHS. METHODS: Using a fully factorial design, four physiotherapists (from Canada, the United States and Sweden) examined eight boys with severe haemophilia A on two consecutive days using the HJHS. The boys ranged in age from 4-12 years and presented with variable joint damage. Six index joints (elbows, knees and ankles) were assessed on 11 impairment items including swelling, flexion and extension loss and gait. Concordance was measured by the intra-class correlation co-efficient. RESULTS: Reliability of the HJHS was excellent with an inter-observer co-efficient of 0.83 and a test-retest of 0.89. CONCLUSION: This study is the first in a series to assess the psychometric properties of the HJHS, a promising new measure of joint health in boys with haemophilia.

Recent developments in clinimetric instruments.

Assessment of impairment and function is essential in order to monitor joint status and evaluate therapeutic interventions in patients with haemophilia. The improvements in the treatment of haemophilia have required the development of more sensitive tools to detect the more minor dysfunctions that may now be apparent. This paper outlines some of the recent developments in this field. The Haemophilia Joint Health Score (HJHS) provides a systematic and robust measure of joint impairment. The MRI Scoring System has been designed to provide a comprehensive scoring system combining both progressive and additive scales. The Functional Independence Score for Haemophilia (FISH) has been developed to assess performance of functional activities and can be used in conjunction with the Haemophilia Activities List (HAL) which provides a self report measure of function. It is recommended that both measures are evaluated as these tools measure different constructs. Further refinement and testing of the psychometric properties of all of these tools is in progress. More widespread use of these tools will enable the sharing of data across the world so promoting best practice and ultimately enhancing patient care.

Physical therapy and imaging outcome measures in a haemophilia population treated with factor prophylaxis: current status and future directions.

Routine infusions of factor VIII to prevent bleeding, known as prophylaxis, and other intensive therapies are being more broadly applied to patients with haemophilia. These therapies differ widely in replacement product usage, cost, frequency of venous access and parental effort. In order to address residual issues relating to recommendations, implementation, and evaluations of prophylaxis therapy in persons with haemophila, a multinational working group was formed and called the International Prophylaxis Study Group (IPSG). The group was comprised of haemophilia treaters actively involved in studies of prophylaxis from North America and Europe. Two expert committees, the Physical Therapy (PT) Working Group and the Magnetic Resonance Imaging (MRI) Working Group were organized to critically assess existing tools for assessment of joint outcome. These two committees independently concluded that the WFH Physical Examination Scale (WFH PE Scale) and the WFH X-ray Scale (WFH XR Scale) were inadequately sensitive to detect early changes in joints. New scales were developed based on suggested modifications of the existing scales and called the Haemophilia Joint Health Score (HJHS) and the International MRI Scales. The new scales were piloted. Concordance was measured by the intra-class correlation coefficient of variation. Reliability of the HJHS was excellent with an inter-observer co-efficient of 0.83 and a test-retest value of 0.89. The MRI study was conducted using both Denver and European scoring approaches; inter-reader reliability using the two approaches was 0.88 and 0.87; test-retest reliability was 0.92 and 0.93. These new PT and MRI scales promise to improve outcome assessment in children on early preventive treatment regimens.

Perinatal risk factors and neuromotor behaviour during the neonatal period.

Preterm birth is associated with an increased risk for neurological handicaps. The purpose of the present study has been: to investigate the influence of perinatal risk factors on early neuromotor development during the neonatal period; to specify the neuromotor parameters particularly sensitive to perinatal complications; and to analyse whether the infant's age at test influences the results. Beside examination of passive/active muscle tone and automatic movements (22 parameters) was performed at 36 (101 infants) and 40 (153 infants) gestational weeks. Low birthweight and long treatment on a ventilator had a negative influence on the neuromotor behaviour at 36 weeks' gestation and white matter disturbances strongly affected the neuromotor parameters at 40 weeks. The development of rooting, sucking, swallowing and arm recoil after long-lasting ventilator treatment was affected by several neonatal risk factors. The development of passive muscle tone and several parameters measuring active muscle tone demonstrated individual consistency between tests, i.e. an infant's rank at 36 weeks' gestation was unchanged 4 weeks later, and some other parameters were not as consistent. The present study shows that several perinatal risk factors influence neuromotor behaviour already during the neonatal period. In addition, the present study provides data on the neuromotor behaviour during the neonatal period that will be related to later neurodevelopmental examinations in order to evaluate the prognostic value of testing neuromotor development.