D. Czepa

Development and validation of a new questionnaire for the assessment of subjective physical performance in adult patients with haemophilia--the HEP-Test-Q.

Summary.  Specific research studies for the investigation of physical performance in haemophilic patients are rare. However, these instruments become increasingly more important to evaluate therapeutic treatments. Within the frame of the Haemophilia & Exercise Project (HEP), a new questionnaire, namely HEP‐Test‐Q, has been developed for the assessment of subjective physical performance in haemophilic adults. In this article, the development and validation of the HEP‐Test‐Q is described. The development consisted of different phases including item collection, pilot testing and field testing. The preliminary version was pilot‐tested in 24 German HEP‐participants. Following evaluation and preliminary psychometric analysis, the HEP‐Test‐Q was revised. The final version consists of 25 items pertaining to the domains ‘mobility’, ‘strength & coordination’, ‘endurance’ and ‘body perception’, which was administered to 43 German haemophilic patients (43.8 ± 11.2 years). Psychometric analysis included reliability and validity testing. Convergent validity was tested correlating the HEP‐Test‐Q with SF‐36, Haem‐A‐QoL, HAL and the Orthopaedic Joint Score. Discriminant validity tested different clinical subgroups. Patients accepted the questionnaire and found it easy to fill in. Psychometric testing revealed good values for reliability in terms of internal consistency (Cronbach’s α = 0.96) and test‐retest reliability (r = 0.90) as well as for convergent validity correlating highly with Haem‐A‐QoL, HAL and SF‐36. Discriminant validity testing showed significant differences for age, hepatitis A and hepatitis B and the number of target joints. HEP‐Test‐Q is a short and well‐accepted questionnaire, assessing subjective physical performance of haemophiliacs, which might be combined with objective assessments to reveal aspects, which cannot be measured objectively, such as body perception.

Haemophilia & Exercise Project (HEP): subjective and objective physical performance in adult haemophilia patients--results of a cross-sectional study.

Summary.  Recurrent musculoskeletal haemorrhages in people with haemophilia (PWH) lead to restrictions in the locomotor system and consequently in physical performance. Patients’ perceptions of their health status have gained an important role in the last few years. The assessment of subjective physical performance in PWH is a new approach. This study aimed to compare the subjective physical performance of PWH with healthy controls and to correlate the results with objective data. Subjective physical performance was assessed via the new questionnaire HEP‐Test‐Q, which consists of 25 items pertaining to four subscales ‘mobility’, ‘strength & coordination’, ‘endurance’ and ‘body perception’. HEP‐Test‐Q subscales were compared with objective data in terms of range of motion, one‐leg‐stand and 12‐minute walk test. Forty‐eight patients (44 ± 11 years) with haemophilia A (43 severe, three moderate) or B (two severe) and 43 controls without haemophilia (42 ± 11 years) were enrolled. PWH showed an impaired subjective physical performance in all HEP‐Test‐Q subscales and in the total score (52 ± 20) compared with controls (77 ± 10; P ≤ 0.001). Correlation analyses for the total score of the HEP‐Test‐Q and objective data revealed values ranging from r = 0.403 (one‐leg‐stand) to r = 0.757 (12‐minute walk test) (P ≤ 0.001). PWH evaluated their physical performance poorer in comparison with healthy people. As self‐assessment did not always correlate highly with objective data, objective examinations of physical performance in PWH should be complemented with subjective perceptions.

SEMG activation patterns of thigh muscles during upright standing in haemophilic patients.

Summary.  Although electromyography (EMG) is a common method to evaluate muscle activity, studies utilizing EMG in haemophilic patients are rare. The haemophilic arthropathy, resulting in altered afferent information is expected to cause disturbed activation and inter‐muscular coordination patterns in haemophilic subjects. The aim of this study was to determine differences of selected knee muscles between haemophilic patients and non‐haemophilic subjects during upright standing. Surface EMG (SEMG) amplitudes of rectus femoris, vastus medialis (VM), vastus lateralis (VL) and biceps femoris (BF) muscles of both sides were measured in 27 haemophilic patients (H) and 26 control subjects (C) while standing on an even surface. Data from both sides were pooled in C, but data of H were subdivided further according to major (H‐MA) and minor (H‐MI) affected joints. To normalize the data, amplitude ratios (percentage of cumulated activity) were calculated as well. Regardless of whether H‐MA or H‐MI was compared with C, amplitudes of all extensor muscles reached significantly higher levels in H (P < 0.05). SEMG amplitude ratios also differed between H and C. Independent of subgroup, BF showed significantly reduced activation ratios (P < 0.01). Only the ratios of VM and VL of H‐MA could replicate the observed amplitude differences to C (P < 0.05). These findings show that while standing, haemophiliacs maintain the necessary stability demands through increased extensor activities and modulated coordination patterns. Although all thigh muscles of haemophiliacs are characterized by distinct atrophy, increased amplitude levels could be proved for the knee extensor muscles only. Therefore, general atrophy‐related effects cannot explain these results.

Haemophilia & Exercise Project (HEP): The impact of 1-year sports therapy programme on physical performance in adult haemophilia patients

Episodes of bleeding in people with haemophilia (PWH) are associated with reduced activity and limitations in physical performance. Within the scope of the ‘Haemophilia & Exercise Project’ (HEP) PWH were trained in a sports therapy programme. Aim of this study was to investigate subjective and objective physical performance in HEP‐participants after 1 year training. Physical performance of 48 adult PWH was compared before and after sports therapy subjectively (HEP‐Test‐Q) and objectively regarding mobility (range of motion), strength and coordination (one‐leg‐stand) and endurance (12‐min walk test). Sports therapy included an independent home training that had previously been trained in several collective sports camps. Forty‐three controls without haemophilia and without training were compared to PWH. Of 48 PWH, 13 performed a regular training (active PWH); 12 HEP‐participants were constantly passive (passive PWH). Twenty‐three PWH and 24 controls dropped out because of incomplete data. The activity level increased by 100% in active PWH and remained constant in passive PWH, and in controls (P ≤ 0.05). Only mobility of the right knee was significantly improved in active PWH (+5.8 ± 5.3°) compared to passive PWH (−1.3 ± 8.6°). The 12‐min walk test proved a longer walking distance for active PWH (+217 ± 199 m) compared to controls (−32 ± 217 m). Active PWH reported a better subjective physical performance in the HEP‐Test‐Q domains ‘strength & coordination’, ‘endurance’ and in the total score (+9.4 ± 13.8) compared to passive PWH (−5.3 ± 13.5) and controls (+3.7 ± 7.5). The ‘mobility’‐scale and one‐leg‐stand remained unchanged. Sports therapy increases the activity level and physical performance of PWH, whereby objective effects do not always correspond with subjective assessments.

Ankle muscle activation in people with haemophilia.

Since normative surface EMG (SEMG) values for muscles acting at the knee joint are available for people with haemophilia, increasing interest is noticeable for other joints affected by haemophilic arthropathy. Adequate activity of shank muscles is an important key for appropriate postural control. The aim of this study was to determine differences in muscle activation patterns of lower leg muscles between people with and without haemophilia during upright standing. SEMG of tibialis anterior (TA), fibularis longus (FL), lateral (LG) and medial (MG) heads of gastrocnemius, and soleus (SO) muscles of both sides were recorded in 25 haemophilic patients (H) and 25 non‐haemophilic control subjects (C) while standing on even ground. The Gilbert‐Score was used to assign sides to major (H‐MA) and minor (H‐MI) affected ankle joints in H. To normalize the SEMG amplitudes, amplitude ratios (percentage of cumulated activity) were calculated. Compared to controls, TA ratios showed higher and MG reduced levels in both H groups (P < 0.01). In the H‐MA subgroup of H, FL also joined the TA behaviour whereas SO had similar activation direction as MG. Although possible descending influences from the knee joints cannot be excluded, this can be interpreted as a compensational mechanism due to the severity of the orthopaedic status of the ankle, which with increasing heaviness is accompanied by reduced plantar flexion capability. However, ankle joint integrity appears to be reduced in H, with TA and MG seeming to play key roles for neuromuscular control of upright posture.

Quadriceps strength, inter-extremity difference (IED) and joint status in adult persons with severe haemophilia in different age stages

Quadriceps weakness seems to be a hallmark in adult persons with severe haemophilia (PWH). The purpose of this study was to compare PWH and non‐haemophilic controls in different age stages with reference to joint status and quadriceps strength. Further aims were to examine the extent of strength‐specific inter‐extremity‐difference (IED) and the prevalence of abnormal IED (AIED). A total of 106 adults with severe haemophilia (H) and 80 controls (C) had undergone an orthopaedic examination for classification of knee and ankle status using the WFH score. Quadriceps strength was evaluated unilaterally as well as bilaterally with a knee extensor device. Each group was divided into four age‐related subgroups (HA/CA: 18–29, HB/CB: 30–39, HC/CC: 40–49, HD/CD: 50–70; in years). H presented a worse knee and ankle status than C indicated by higher WFH scores (P < 0.01). Regarding the age‐matched subgroups only HB showed higher knee scores than CB (P < 0.05). The ankles were clinically more affected in HB‐HD compared with those in age‐matched controls (P < 0.05). H showed lower quadriceps strength than C (P < 0.05). In addition, all subgroups of H presented lower strength (HA: 10–17, HB: 19–23, HC: 35–36, HD: 53–61; in%, P < 0.05). IED was higher in H than in C [H: 12.0 (5.3/32.2) vs. C: 7.1 (2.9/10.9); Median (quartiles) in%, P < 0.001] and increased with age in H. We discovered an AIED in 35% of H. These findings highlight the importance for the early implementation of preventive and rehabilitative muscle training programmes in the comprehensive treatment of PWH.

RCT of a 6-month programmed sports therapy (PST) in patients with haemophilia – Improvement of physical fitness

Physical fitness is of major importance for patients with haemophilia (PwH) but is highly influenced by bleeding episodes. Although some cohort studies describe an improvement of physical fitness after training intervention, randomized controlled studies (RCT) in PwH are still rare.

Impact of joint status on contraction steadiness of m. quadriceps femoris in people with severe haemophilia

Impaired contraction steadiness of lower limb muscles affects functional performance and may increase injury risk. We hypothesize that haemophilic arthropathy of the knee and the strength status of quadriceps are relevant factors which compromise a steady contraction. This study addresses the questions if impaired steadiness of the quadriceps is verifiable in people with haemophilia (PWH) and whether a connection between the status of the knee joint and quadriceps strength exists. A total of 157 PWH and 85 controls (C) performed a strength test with a knee extensor device to evaluate their bilateral and unilateral maximal quadriceps strength and steadiness. Isometric steadiness was measured by the coefficient of variation of maximum peak torque (CV‐MVIC in %). For classification of the knee joint status the World Federation of Haemophilia (WFH) score was used. Lower steadiness (higher CV values) was found in PWH compared with C during bilateral [PWH vs. C; 0.63 (0.36/1.13) vs. 0.35 (0.15/0.72), median (Q25/Q75) P < 0.001] and unilateral trials [left leg: 0.70 (0.32/1.64) vs. 0.50 (0.23/1.04), P < 0.05; right leg: 0.68 (0.29/1.51) vs. 0.39 (0.18/0.68), P < 0.001]. PWH with a WFH score difference (≥1) between their extremities showed a less steady contraction in the more affected extremity (P < 0.05). More unsteady contractions have also been found in extremities with lower quadriceps strength compared with the contralateral stronger extremities (P < 0.001), whereby the weaker extremities were associated with a worse joint status (P < 0.001). The results of this study verify an impaired ability to realize a steady contraction of quadriceps in PWH and the influence of joint damage and strength on its manifestation.

Altersabhängige Ansteuerung der Muskulatur im Stand bei Patienten mit Hämophilie

Thehaemophilicarthropathyaffects thefunction of theknee joint muscles. The aim of thisstudywas to investigatethe myoelectrical signal ofknee jointmusclesin different agestages during upright standing. Surface EMG (SEMG) amplitudes of quadriceps, hamstrings and gastrocnemii were measured in 191 patients with severe haemophilia A (n=164) and B (n=27) while standing on an even surface. After an age-based classification of patients into the subgroups H(A): 17-29 (n = 37), H(B): 30-39 (n = 50), HC: 40-49 (n = 61), H(D): 50-70 in years (n = 43) the clinical WFH score for the ankle and knee joint was determined. To normalize the SEMG values amplitude ratios (percentage of cumulated activity) were calculated with respect to the specific limb. With increasing age, the patient showed descriptively a deterioration of the joint situation. The extensors of the knee joint reached significantly higher absolute and percentage levels in the muscle activity with increasing age (p < 0.05). The absolute amplitude values of the Mm. gastrocnemii showed no differences in the age groups while the relative levels were decreased. The present study shows that patients with increasing age and degree of haemophilic arthropathy develop a modified control strategy during upright standing, in the form of a shift from the plantar flexors to the extensors of the knee joint.