Emotional adjustment of children and adolescents with haemophilia in relation to the HIV threat

A Dutch nation-wide study on young haemophilia patients, whose former treatment placed them at risk for HIV infection, was done to examine the effect of HIV testing, HIV status, disclosure of HIV status and the child's experiences with disease-related information on emotional adjustment. In the Netherlands HIV tests are not routinely performed for paediatric haemophilia patients, but the number of HIV-infected children is estimated to be low (8%). Seventy-two boys with haemophilia, five HIV positive, 51 HIV negative and 16 not tested, and their mothers were interviewed and administered standardized questionnaires. Multiple regression analyses showed no differences in anxiety and depression between HIV-positive, HIV-negative or untested boys, nor between children who were informed or not informed about their HIV status. Conversely, children who experienced more difficulties to obtain information about the their disease were significantly more anxious and tended to be more depressed. No significant differences in emotional distress were found between the patients and a standardization sample of healthy peers. The data provide evidence that children and adolescents with haemophilia cope effectively with their disease and the emotional impact of the HIV threat. There seems to be no reason to protect children from testing or knowing their HIV status. In the absence of compelling medical reasons, however, health care workers should not forcefully advocate testing or early disclosure. Distinct disease and treatment-related factors as well as social factors modify disclosure practices.     

Treatment of children with haemophilia in Europe: a survey of 20 centres in 16 countries.

A survey was made of the current status of treatment of haemophilic boys at 20 centres in 16 European countries and includes approximately 1500 of the estimated 6500 haemophiliacs in the participating countries. Many mild haemophiliacs are not seen, or seen infrequently, at haemophilia centres and this requires study. Nine of 18 centres provide continuous prophylaxis to 80-100% of their patients, five centres provide it to 55-80% and the remaining four centres to 15-40% of the boys. The median dose given was 6240 U kg-1 year-1 (range 3120-7800). Four centres administered only recombinant concentrates to children with severe haemophilia A, while seven centres administered recombinant concentrates to 75-90% and the remaining centres to less than 50% of the boys (two centres < 10%). When asked for the choice of concentrate for a newly diagnosed boy with severe haemophilia A, all but one centre preferred recombinant concentrate. Most boys below 6 years received concentrates via a peripheral vein but three centres preferred a central venous line for 80-100% of the boys. Thirteen of 18 centres applied home treatment to 84-100% of the boys and the remaining five centres to 57-77% of the boys.     

Prediction of behavioural and emotional problems in children and adolescents with operated congenital heart disease

Aims The aim of the present study was to determine which medicalvariables were predictors of long-term behavioural/emotionaloutcome after surgical correction for congenital heart diseasein infancy and childhood. Methods The Child Behavior Checklist (CBCL) was used to predict parent-reportedbehavioural/emotional problems in 125 10–15 year-old congenitalheart disease children from: (1) biographical status (2) medicalhistory (3) heart surgery (4) short-term post-operative courseand (5) number of heart operations and (6) extra cardiac concomitantanomalies. Results Higher CBCL total problem scores at follow-up were associatedwith a greater number of heart oper-ations and deep hypothermiccirculatory arrest (<22°). ‘Internalizing problems’were associated with a greater number of heart operations, deephypothermic circulatory arrest, a short gestational age, lowsystemic oxygen saturation, and older age at surgical repair.‘Externalizing problems’ were associated with agreater number of heart operations only. Conclusion Several medical variables were significant predictors and canbe used to identify those congenital heart disease childrenwho are at risk of long-term behavioural/emotional maladjustment.     

Historical and political implications of haemophilia in the Spanish royal family

The political implications of haemophilia in the marriage of King Alfonso XIII of Spain and Princess Victoria Eugenie Battenberg of England have been reviewed in recent books on history. However, the fact that they had haemophilic sons also affected their personal relationship. In this article, we review the consequences haemophilia bore on their lives. We feel great compassion for families who suffer the illness, be it ordinary people or members of royalty; however, in this case, it can be said that when the disease affected a royal couple, the political consequences were great.     

Psychiatric disorders and family functioning in children and adolescents with functional abdominal pain syndrome

Background and Aim:  Functional abdominal pain syndrome (FAPS) is a functional gastrointestinal disorder. There is a heightened risk when conducting potentially dangerous and unnecessary medical investigations and procedures in children with FAPS. The aim of this study was to survey the rate of the psychiatric disorders and family functioning in children and adolescents with FAPS.
Methods:  The subjects were a consecutive new sample of 45 children and adolescents with FAPS, 45 with an organic abdominal pain, and 45 pain-free comparison subjects aged 5–18 years that were interviewed using the Farsi version of K-SADS. Family functioning and the severity of pain were also studied.
Results:  About 51.1% of patients with FAPS suffered from at least one psychiatric disorder. Psychiatric disorders in the FAPS patients studied included general anxiety disorder (8.9%), obsessive-compulsive disorder (11.1%), attention deficit hyperactivity disorder (15.6%), separation anxiety disorder (24.4%), and major depressive disorder (15.6%). Except for generalized anxiety disorder and tic disorder, the other disorders were significantly more common in the FAPS group than in the two other control groups. Family functioning scores were not significantly different between groups.
Discussion:  There is a high rate of psychiatric disorders in children and adolescents with FAPS in Iran, but our study found fewer incidences of disorders than previous reports have indicated. Family dysfunction difficulties in FAPS children are not more common than those in the control groups.     

The use of prophylaxis in 2663 children and adults with haemophilia: results of the 2006 Canadian national haemophilia prophylaxis survey

Summary. Prophylaxis is standard of care for boys with severe haemophilia A. Indications for prophylaxis in adulthood, non‐severe haemophilia A, haemophilia B and haemophilia with inhibitors are less well defined. This survey, conducted in 2006, aimed to describe prophylaxis use in patients of all ages and severities with haemophilia A or haemophilia B in Canada. Data on 2663 individuals (2161 haemophilia A; 502 haemophilia B), including 78 inhibitor‐positive patients, were returned by 22/25 Canadian haemophilia treatment centres. This represented 98% of the Canadian haemophilia population. Frequency of prophylaxis use, defined as infusion of factor VIII/IX concentrate at least once weekly for ≥45 weeks of the year, was highest in individuals with severe haemophilia A (69%). It was lower in individuals with severe haemophilia B (32%), moderate haemophilia A (18%) or B (5%) and mild haemophilia A (1%) or B (1%). Among individuals with severe haemophilia A, the frequency of prophylaxis use was 84% in children (≤18 years) and 55% in adults (>18 years). Thirteen per cent of inhibitor‐positive individuals were receiving prophylaxis with bypassing agents. Comparison with data obtained from a 2002 Canadian survey showed a greater use of prophylaxis in children ≤5 years of age with severe haemophilia A (73% vs. 49%). Prophylaxis is no longer confined to children with severe haemophilia A, but is used in a significant proportion of adults with severe haemophilia A and individuals with severe haemophilia B or moderate haemophilia A. Prophylaxis is being started earlier in boys with severe haemophilia A.     

Pain management in patients with haemophilia: a European survey

Summary. There are no evidence-based guidelines on pain management in people with haemophilia (PWH), who may suffer acute, disabling pain from haemarthroses and chronic arthropathic pain. To review evidence and to investigate current clinical practice in pain assessment and management in PWH the European Haemophilia Therapy Standardisation Board undertook a literature review and a survey in 22 Haemophilia Treatment Centres (HTC), using a questionnaire and seven clinical scenarios. Consensus was sought on pain assessment and management in PWH. Few clinical studies on pain management in PWH were identified. The HTCs care for 1678 children (47% severe haemophilia, 84% on prophylaxis, 17% with arthropathy and 8% with chronic pain) and 5103 adults (44% severe haemophilia, 40% on prophylaxis, 67% with arthropathy and 35% with chronic pain). Analgesics are prescribed by HTCs in 80% of cases (median; range 0-100%) and in 10% (median; range 0-80%) are bought over the counter. Pain and analgesic use are assessed when reported by patients and at check-ups. Only eight centres use a specific pain scale and/or have specific pain guidelines. Two HTCs arrange regular consultations with pain specialists. For acute pain, the preferred first-line drug is paracetamol for children, and paracetamol or non-steroidal anti-inflammatory drugs (NSAIDs) for adults. Children with chronic pain are treated with paracetamol or NSAIDs, whereas adults usually receive Cox-2 inhibitors. Second-line therapy is heterogeneous. There is little published evidence to guide pain assessment and management in PWH, and clinical practice varies considerably across Europe. General and specific recommendations are needed.     

Physical activity and functional abilities in adult males with haemophilia: a cross‐sectional survey from a single US haemophilia treatment centre

Physical activity and functional ability are important determinants of quality of life and these metrics are affected by both haemophilia and ageing. Outside haemophilic arthropathy, risk factors leading to reduced physical activity and function in people with haemophilia (PWH) are under‐explored. The purpose of this analysis was to determine risk factors for reduced physical activity and functional limitations in PWH. A secondary analysis was conducted on data indexing physical activity and functioning of 88 PWH using data originally collected as part of a cross‐sectional study at a single large haemophilia treatment centre. The Framingham Physical Activities Index (PAI), the Hemophilia Activities List (HAL) and the Timed Up‐and‐Go Test (TUG) were the outcome measures. The World Federation of Haemophilia (WFH) orthopaedic joint score was used as a measure of arthropathy. Multiple linear regression analysis was used to assess the relationship between the outcome measures and covariates. Worsening WFH joint score was independently associated with all three outcome measures (P < 0.05). Increasing age was associated with reduced PAI and increased TUG time (P < 0.05). The HAL summary score was decreased in patients with chronic liver disease (P = 0.006). The adjusted R² for each model was ≤0.35. This study provides evidence for the relationship between arthropathy and reduced physical functioning/activity, but also highlights that much of the variation in physical functioning/activity is not explained by haemophilia‐related characteristics.     

Effect of intracranial bleeds on the neurocognitive, academic, behavioural and adaptive functioning of boys with haemophilia

Brain insults are a risk factor for neuropsychological and academic deficits across several paediatric conditions. However, little is known about the specific effects of intracranial haemorrhage (ICH) in boys with haemophilia. The study compared neurocognitive, academic and socio-emotional/behavioural outcomes of boys with haemophilia with and without a history of ICH. Of 172 consecutive patients seen at a Pediatric Comprehensive Care Hemophila Centre, 18 had a history of ICH. Sixteen boys between the ages of 3 and 17 years were available for study and were matched to controls with haemophilia of the same age and disease severity and on the basis of maternal education. Groups were compared on neuropsychological and academic outcomes. Attention, socio-emotional function and executive skills were compared using data from parent questionnaires. Differences were found in intellectual function, visual-spatial skill, fine motor dexterity and particularly language-related skills, including vocabulary, word reading and applied math problem solving. Despite these group differences, outcomes were within the average range for most boys with ICH. No group differences were found in behavioural and socio-emotional functioning. Although ICH in haemophilia is not benign, it was not associated with significant cognitive and academic consequences for most boys. Early neuropsychological assessment may be indicated when there is a history of ICH. Investigation of age at ICH and quantitative measures of brain in relation to neurocognitive outcomes in larger groups of boys with ICH would be useful.     

Qualitative assessment of the emotional and behavioural responses of haemophilia A carriers to negative experiences in their medical care

Summary. Previous discussions with haemophilia A (HA) carriers suggested that carriers may experience inappropriate care, resulting in poor relationships with healthcare providers (HCPs; principally physicians and nurses), and unfortunate and extreme emotional and behavioural responses. This was a qualitative study to explore medical experiences of HA carriers and their emotional and behavioural responses. Eleven HA carriers and five Haemophilia Treatment Centre nurses were interviewed. Themes were identified using QSR NVivo 8.0. Carriers and nurses reported HA‐related bleeding symptoms in carriers, including life‐threatening haemorrhage following injury or medical intervention. Menorrhagia was common and distressing. Negative carrier experiences were related in the determination of genotypic and phenotypic status, management, precautions and HCP attitude, including dismissing carriers’ symptoms, concerns or requests for care. Carriers responded with mistrust, lost confidence, disappointment, fear, anxiety, doubt of self or child, discussing experiences, avoidance of healthcare and self‐treatment. Dismissive HCP attitudes, ignorance about bleeding disorders in women and unique aspects of the carrier population appear to make errors more likely. This study indicates that carriers experience inappropriate care and encounter dismissive attitudes, and respond emotionally and behaviourally. Our model suggests that systematic medical errors aggravate a negative feedback loop leading to negative emotional and behavioural responses and worsening carrier care. Improved carrier care policies and increased awareness of women’s bleeding disorders may improve this situation. Further research is needed to determine whether the themes identified in this study accurately reflect the experiences of carriers in general.     

A longitudinal study of family structure in Swedish persons with haemophilia

Haemophilia is an X‐linked inherited rare bleeding disorder affecting mainly men. The treatment consists of replacement therapy that has been associated with severe side effects, such as blood transmitted viral infections, but has markedly improved over the last decades. The aim of this study was to study family structure over time among Swedish persons with haemophilia (PWH), focusing on children, siblings and marital status. PWH A or B were identified from the haemophilia centres and the national Patient Registry. Each PWH was compared to five age‐ and gender‐matched controls. The national Multi‐Generation Registry was used to identify children and siblings. A total of 1365 children with a father suffering from haemophilia A or B and 1938 siblings of the PWH were identified. Having one or more children was significantly less common (P = 0.003) for PWH than for controls. Significantly lower rates of having a child were also found for the subgroups of persons suffering from severe haemophilia and those infected with HIV (P < 0.001). A higher proportion of PWH, with or without HIV and/or viral hepatitis had siblings compared to the controls (P < 0.001). However, the mean number of siblings was significantly lower for persons with severe haemophilia (P = 0.001). The number of marriages and divorces did not differ between PWH and controls. Our data indicate a negative impact of HIV and viral hepatitis on family structure for PWH despite the relatively good access to treatment in Sweden over the last few decades. This was particularly true for those with a severe form of haemophilia.     

Grandpaternal mosaicism in a family with isolated haemophilia A

About one third of cases of haemophilia A have no family history of the disorder, and 20% are thought to be due to a new mutation. In the family reported here, a 3 bp deletion was detected in DNA from the proband at the 3' end of exon 15. Direct sequencing of genomic DNA prepared from blood and buccal cells of the grandfather revealed both normal and mutant sequences, suggesting that he is a mosaic for this mutation. This highlights the usefulness of mutation detection, both for accurate genetic counselling and to determine the origin of new mutations of haemophilia.     

Aspects of current management: orthopaedic surgery in haemophilia

Summary. If continuous prophylaxis is not feasible due to expense or lack of venous access, we must aggressively treat major haemarthroses (including arthrocentesis) to prevent progression to synovitis, recurrent joint bleeds, and ultimately end‐stage osteoarthritis (haemophilic arthropathy). For the treatment of chronic haemophilic synovitis, radiosynovectomy should always be indicated as the first procedure. If, after three procedures with 6‐month interval, radiosynovectomy fails, an arthroscopic synovectomy must be indicated. Between the second and fourth decades, many haemophilic patients develop joint destruction (arthropathy). At this stage possible treatments include alignment osteotomy, arthroscopic joint debridement, arthrodesis (joint fusion) and total joint arthroplasty. For the hip press‐fit uncemented components (hemispherical acetabulum, flanged femoral stem, metal‐to‐polyethylene) are recommended whilst for the knee a posterior‐stabilized (PS) cemented design is advised. Muscular problems must not be underestimated in haemophilia due to their risk of developing compartment syndromes (which will require surgical decompression) and pseudotumours (which will require surgical removal or percutaneous treatment). Regarding patients with inhibitors, the advent of APCCs and rFVIIa has made major orthopaedic surgery possible, leading to an improved quality of life for haemophilia patients. Concerning local fibrin seal, it is not always necessary to achieve haemostasis in all surgical procedures performed in persons with haemophilia. However, it could be a good adjunct therapy, mainly when a surgical field potentially will bleed more than expected (i.e. patients with inhibitors), and also in some orthopaedic procedures (mainly the surgical removal of pseudotumours).     

A survey of factor prophylaxis in boys with haemophilia followed in North American haemophilia treatment centres

Summary.  A survey was conducted in 2002 to determine the pattern of factor prophylaxis use in boys ≤18 years of age with haemophilia followed in North American treatment centres. Responses were obtained from 4553 cases (74% haemophilia A, 26% haemophilia B). The frequency of prophylaxis, defined as factor infusion greater than or equal to once per week for ≥45 weeks per year, was significantly higher for haemophilia A vs. haemophilia B cases (51% vs. 32%, P < 0.0001), and for boys with severe haemophilia A living in Canada vs. the USA (77% vs. 47%, P < 0.0001). Use of full-dose prophylaxis, defined as the infusion of 25–40 IU kg⁻¹ of factor VIII on alternate days (minimum three times per week) or 25–40 IU kg⁻¹ of factor IX twice weekly, was similar for boys ≤5 years of age in both Canada and the USA (30% and 33% haemophilia A and 35% and 13% haemophilia B). Reasons for initiating prophylaxis included a history of joint bleeding (88%) and age ≤2 years (23%). For prophylaxis triggered by joint bleeding, 38% of haemophilia treatment centres indicated that they would initiate prophylaxis after the first joint bleed and 66% after a history of target joint bleeding, defined most frequently as 2–4 bleeds over a 3–6 consecutive month period. A central venous line was used to ensure easy venous access for full-dose prophylaxis therapy in 80% of boys ≤5 years of age. These data offer a basis for projecting long-term factor concentrate needs for persons with haemophilia living in North America.