Determinants of participation in patients with severe haemophilia.

The multifactorial nature of disability makes it difficult to point out a specific cause for limitations in participation. The conceptual framework of the WHO-ICF (International Classification of Function, Disability and Health) was used to study the determinants participation in patients with severe haemophilia. Outcome was assessed in a single-centre cohort of 124 patients with severe haemophilia. Joint mobility and muscle strength of the elbows, knees and ankles, in combination with recent X-ray findings (N = 39 only) and the MPQ-DLV pain questionnaire were used to assess Body Functions and Structures. Four performance-based functional tasks and the HAL questionnaire were used to assess Activities. The IPA questionnaire was used to assess Participation. Stepwise and hierarchical regression analysis adjusted for age and psychological health (Dutch-AIMS 2) was used to associate the various domains of the ICF. Irrespective of age, joint mobility was an important factor in explaining self-reported and performance-based activities. Muscle strength had no significant association with participation. Self-reported activities showed a stronger association with participation than performance-based activities. Adjusted for age and psychological health, joint mobility and pain explained none of the variation in participation. Self-reported activities, however, significantly contributed in explaining participation (25%), whereas performance-based activities (3%) did not. This study adds to the knowledge of determinants of participation in haemophilia. As the currently used instruments on joint status and activities only partially explain differences in participation, this aspect of clinical outcome should be included to fully assess outcome in haemophilia.

Perceived competence in children and adolescents with haemophilia: an explorative study.

With the introduction of prophylaxis, restricting children with haemophilia to participate in physical activities was no longer necessary. Subsequently, many studies report on improved physical functioning in children and adolescents with haemophilia. However, little is known about psychological aspects such as perceived competence and impact of disease. Therefore, the aims of this study were to explore: (i) perceived competence, (ii) perceived impact of illness, and (iii) analyse associations between perceived competence and demographic factors, disease-related factors and joint status in young haemophiliacs in the Netherlands. Fifty-four children (age 8-12 years) and 72 adolescents (12-18 years) with haemophilia participated in this cross-sectional, multi-centre, explorative study. Measurements included perceived competence (Self Perception Profile for Children/Adolescents; range 6-24/5-20), impact of disease (Revised Perception Illness Experience; range 1-5), demographic factors, disease-related factors, joint status and functional status. Mean (SD) scores for perceived competence in the children ranged from 17.3 (±4.0) to 19.6 (±4.0), and for adolescents from 13.3 (±2.4) to 15.7 (±2.8) points. In general, scores were comparable with those of healthy peers, but children with haemophilia had a lower global self-worth score and competence in close friendship was lower for adolescents when compared with those of healthy peers. Mean (SD) scores for impact of disease ranged from 1.2 (±0.4) to 2.3 (±0.8) in children and from 1.3 (±0.4) to 2.0 (±0.8) in adolescents. Severe haemophilia, prophylactic medication, high impact of disease and a shorter walking distance showed a weak to moderate association with perceived competence. Children and adolescents with haemophilia in general have a perceived competence that is nearly comparable with that of healthy peers, with the exception of a lower global self-worth in children and a lower competence for close friendship in adolescents. Haemophiliacs seem to perceive their disease as having relatively low impact on their life. Severe disease, prophylactic treatment and low functional status seemed to be associated with lower perceived competence.

Participation and risk-taking behaviour in sports in children with haemophilia.

The aim of this study was to investigate participation in sports activities and risk-taking behaviour in children with haemophilia and the relationship to personal and health related factors. Ninety-nine children (mean age 12.6 years) completed questionnaires regarding participation in sports and physical education, medication, health related quality of life, and perceived motor competence. Furthermore, weight, height, active range of motion, pain, and muscle strength were assessed. Based on a risk exposure factor (REF) we defined subgroups with low, medium, and high risk when participating in sport. Most children participate in sport five times a week (mean 140 min per week), and little absence during school sports was reported. In general, prophylaxis was not tailored to sport activities. Boys with haemophilia preferred other sports than their Dutch contemporaries. The top-5 being soccer, swimming, tennis, gymnastics, and cardio-fitness for the former; soccer, gymnastics, tennis, hockey, and swimming for the latter. Significant differences between the low risk group and both other groups were found for sport intensity, total energy expenditure (EE) and average risk factor (ARF), however the medium and high-risk groups did not differ in ARF. REF and sport participation increased associated with increasing interest in athletic and motor activities. No significant differences were found between REF groups regarding age, Z-BMI, Z-AROM, Z-Muscle force, and the presence of painful joints. As in normal peers motivation to participate in sport depends upon the enthusiasm and interest, in children with haemophilia choice of sports differs, probably related to sport advice.

Upper limb lymphedema 27 (ULL27): Dutch translation and validation of an illness-specific health-related quality of life questionnaire for patients with upper limb lymphedema.

The health-related quality of life questionnaire for lymphedema of the upper limb (ULL27) was translated into Dutch according to international guidelines and validated. Eighty-four patients with lymphedema that occurred after axillary surgery for breast cancer and subsequent radiotherapy, chemotherapy, or hormonal therapy, completed the translated version of the ULL27 and the RAND36. Severity of upper limb edema was measured by specialized physiotherapists. The internal consistency of the domains of the questionnaire was good as were the convergent validity and discriminant ability. Upper limb volume and the domains of the ULL27 were not correlated. The Dutch translation of the ULL27 questionnaire has good internal consistency and validity but further research is needed to determine its responsiveness.

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.

Pain and functional limitations in patients with severe haemophilia.

Patients with severe haemophilia often experience pain caused by haemophilic arthropathy, and it is known that pain acts as a predictor of disability. The role of pain in functional limitations in these patients, however, has not been systematically investigated. The aim of this study was to describe pain as experienced by patients with haemophilia and to address the role of pain in subsequent functional limitations. Seventy-eight adult patients (18-70 years) with severe haemophilia completed one questionnaire on pain and one on self-perceived functional abilities. Two-thirds of the patients suffered from more than one painful joint, the ankle being mentioned most frequently (n=43). Analgesics were used by 36% of the patients indicating having pain. Six of 10 most frequently mentioned pain descriptors were of evaluative nature. Evaluative qualities of pain were associated with pain intensity, which in turn was associated with the impact of pain on daily life. Pain outcomes, after adjusting for age and treatment modality, explained 3-22% of the variance in self-perceived functional abilities. Data on radiological joint damage (Pettersson scores) were retrieved for a subgroup of 28 younger patients on prophylaxis and no significant correlations with pain parameters were found. Over two-thirds of the patients with severe haemophilia had one or more painful joints. Pain plays a small, but significant role in functional limitations. In the identified subgroup, arthropathy, as measured by the Pettersson score, seemed to have no role in pain experience. Promoting analgesic use might decrease the impact of pain on functional limitations.

Measuring patients' perceptions on their functional abilities: validation of the Haemophilia Activities List.

Recently, the Haemophilia Activities List (HAL), a haemophilia-specific self-assessment questionnaire to assess a patient's self-perceived functional ability, was introduced and a limited pilot study warranted its further development. The present study finalizes the HAL and assesses the convergent and construct validity, as well as the internal consistency of its definitive version. Three questionnaires (HAL, Dutch-Arthritis Impact Measurement Scales 2 and the Impact on Participation and Autonomy questionnaire) were completed by 127 patients with severe haemophilia (<1% clotting activity), as well as four performance tests (button test, 50 metre walking test, timed-up-and-go test and figure-8 walking test). After removal of 15 non-informative items from the provisional HAL, three components within the questionnaire were identified (upper extremity activities, basic lower extremity activities and complex lower extremity activities). The internal consistency of these components was high (Cronbach's alpha = 0.93-0.95), as was internal consistency for the seven domains of the HAL (alpha = 0.61-0.96). The convergent validity of the HAL when compared to the other two questionnaires was good (r = 0.47-0.84). The construct validity of the HAL when compared to the four performance tests was generally lower (r = 0.23-0.77). The final version of the HAL has good internal consistency and convergent validity and gives the clinician insight into a patient's self-perceived ability to perform activities of daily life. It is likely that self-assessment instruments (questionnaires) and performance tests consider different concepts of functional health status and it is therefore recommended that both types are included when clinicians assess a patient's functional abilities.

The use of a disability model in haemophilia research.

Most haemophilia research is medically orientated. However, assessment of the impact of disease on the individual is different when viewed from a rehabilitation perspective. Several models are available to explore functioning and health from this perspective. The disablement process (DP) is such a model, and the aim of this study was to introduce this process in haemophilia research to see whether this type of research could lead to meaningful data. Forty-three adult patients with severe haemophilia participated in this study in which the three 'main pathway' domains of the DP (impairments, functional limitations and disability) and two additional factors (intra-individual and risk factors) were addressed. Three questionnaires (HAL, Dutch-AIMS2 and IPA) were incorporated, and Pettersson scores for 21 patients were retrieved. Step-wise and hierarchical regression analysis was used to assess relationship between the various domains. Arthropathy explained 48% of the variance in functional limitations and nearly 25% of the variance in disability. Functional limitations explained 54% of the variance in disability. Patients identified pain as an important aspect of health which addressed 22% and 13% of the variance in functional limitations and disability respectively. Age was correlated with arthropathy (r = 0.85; P < 0.001), whereas psychological health correlated with pain (r = 0.67; P < 0.001). Both variables were also correlated with functional limitations and disability. Analyses adjusting for the effects of age and psychological health were subsequently performed resulting in more insight in the associations within the DP. The use of the DP in haemophilia research proved to be useful.

Assessing functional health status in adults with haemophilia: towards a preliminary core set of clinimetric instruments based on a literature search in Rheumatoid Arthritis and Osteoarthritis.

People with haemophilia experience a progressive deterioration of their functional health status. Regular clinical assessment of functional health status provides insight into their process of disablement. As such, the development of a core-set of measurement tools is warranted. The aim of this study was to gather data to prepare a (preliminary) core set of clinically relevant and feasible instruments to assess the functional health status of adults with haemophilia, and to indicate their psychometric qualities. Therefore, clinimetric instruments frequently used in two haemophilia-resembling diseases (Rheumatoid Arthritis and Osteoarthritis) were reviewed from the literature. An extensive search in Medline yielded 13 relevant review articles, incorporating a total of 182 instruments, of which 40 were appropriate for haemophilia. Of these 40 instruments 3 measure body structures, 13 body functions, 19 activities (of which 5 are performance based and 14 self-report based), and 3 measure participation. This classification is based on the International Classification of Functioning, Disability and Health. Detailed information regarding the psychometrics (reliability, validity and responsiveness) of four instruments is described fully in the literature, whereas the psychometrics of the majority of the other instruments are only partly described. The results of this literature study may contribute to the formation of a (preliminary) core set of clinimetric instruments to assess the functional health status of adults with haemophilia. Decisions on the final core set should be held within the Musculoskeletal Committee of the World Federation of Haemophilia.

Functional consequences of haemophilia in adults: the development of the Haemophilia Activities List.

Several instruments can be used to evaluate the functional status of patients with haemophilia, but none of these instruments is specific for haemophilia. We developed a haemophilia-specific self-assessment questionnaire to evaluate and monitor a patient's perceived functional health status: the Haemophilia Activities List (HAL). In three separate but interlinked substudies, the questionnaire was constructed and tested for face, expert, and convergent validity, as well as internal consistency and patient-evaluated relevance. Items for the questionnaire were collected by interviewing 162 patients, using the McMaster-Toronto Arthritis Patient Preference Disability Questionnaire (MACTAR). The items were combined to generate the first version of the questionnaire [HAL(1)]. This version was evaluated and commented on by two focus groups (patients and caregivers), and then the questionnaire was adapted on the basis of these comments, forming the final version, HAL(2). This version was then validated in a pilot study with 50 consecutive patients using the Dutch Arthritis Impact Measurements Scales 2 (Dutch-AIMS2) and the Impact on Participation and Autonomy (IPA) questionnaires. The HAL(2) showed good convergent validity (Pearson correlation 0.80-0.91; P < 0.01), and the internal consistency was good for six of the eight domains (Cronbach's alpha 0.83-0.95). Patients considered the content of the HAL to be more relevant to their situation than the content of the other questionnaires (P < 0.01). Three major factors (upper extremity function, lower extremity function, key activities/major problem activities) were identified by factor analysis. The questionnaire seems to be a useful tool to identify problematic activities as part of the functional health status of patients with haemophilia. The construct validity, test-retest reliability, and responsiveness of the HAL will be established in the future.