Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1

Objective. To establish the prevalence of endocrinologic disorders in children with neurofibromatosis type 1 (NF1) and the relationship between these disorders and cerebral abnormalities on magnetic resonance imaging. Design. A prospective follow-up study. Setting. A multidisciplinary neurofibromatosis clinic. Patients. A total of 122 children diagnosed with NF1 according to diagnostic criteria set by the National Institutes of Health. Results. Central precocious puberty (CPP) was diagnosed in 3 children and growth hormone deficiency (GHD) in 3 children. Optic pathway gliomas were observed in 15 children; in 9 of the 15 cases, the optic chiasm was involved. Of the 3 children with CPP, only 1 showed a chiasma glioma on magnetic resonance imaging. In 1 case with GHD, an optic chiasm glioma was detected on neuroimaging. Two of the 9 children with an optic chiasm glioma presented with CPP or GHD. Conclusions. It has been suggested that CPP in children with NF1 is found exclusively in the presence of a chiasma glioma. We conclude that chiasma glioma may not be obligatory in children with NF1 and CPP or GHD. Moreover, we report a prevalence of GHD in children with NF1 of 2.5%, which has not been established earlier

Thirty years of hemophilia treatment in the Netherlands, 1972-2001

Since the introduction of replacement therapy in the early 1960s by the infusion of plasma-derived factor VIII and IX preparations, important changes have occurred for hemophilia patients. We studied the medical and social developments over 30 years of hemophilia treatment. Since 1972, 5 cross-sectional national postal surveys among all hemophilia patients in the Netherlands were performed, the latest in 2001. The prestructured questionnaires included items on treatment, the presence of inhibitory antibodies against factor VIII or IX, the annual number of bleeding episodes, use of inpatient hospital care, and hepatitis C and HIV infections. Response rate in 2001 was 70%. Young patients ( <16 years) with severe hemophilia showed the largest increase in use of prophylaxis, from 34% in 1972 to 86% in 2001. The occurrence of hemorrhages has gradually decreased. Hospital admissions decreased from 47% of all patients in 1972 to 18% in 2001. Our study shows that the treatment of patients with severe hemophilia in the Netherlands has focused on the use of prophylactic treatment, especially in children. This has resulted in a decrease in bleeding frequency and an improvement of the medical and social circumstances of patient

Health-related quality of life in preschool children in five health conditions

Objective: To test the responsiveness of the Infant/Toddler Quality of Life Questionnaire (ITQOL) to five health conditions. In addition, to evaluate the impact of the child's age and gender on the ITQOL domain scores. Methods: Observational study of 494 Dutch preschool-aged children with five clinical conditions and 410 healthy preschool children randomly sampled from the general population. The clinical conditions included neurofibromatosis type 1, wheezing illness, bronchiolitis, functional abdominal complaints, and burns. Health-related quality of life (HRQoL) was assessed by a mailed parent-completed ITQOL. Mean ITQOL scale scores for all conditions were compared with scores obtained from the reference sample. The effect of patient's age and gender on ITQOL scores was assessed using multi-variable regression analysis. Results: In all health conditions, substantially lower scores were found for several ITQOL scales. The conditions had a variable effect on the type of ITQOL domains and a different magnitude of effect. Scores for 'physical functioning', 'bodily pain', and 'general health perceptions' showed the greatest range. Parental impact scales were equally affected by all conditions. In addition to disease type, the child's age and gender had an impact on HRQoL. Conclusions: The five health conditions (each with a distinct clinical profile) affected the ITQOL scales differently. These results indicate that the ITQOL is sensitive to specific characteristics and symptom expression of the childhood health conditions investigated. This insight into the sensitivity of the ITQOL to health conditions with different symptom expression may help in the interpretation of HRQoL results in future applications

Motor Learning in Children with Neurofibromatosis Type I

The aim of this study was to quantify the frequently observed problems in motor control in Neurofibromatosis type 1 (NF1) using three tasks on motor performance and motor learning. A group of 70 children with NF1 was compared to age-matched controls. As expected, NF1 children showed substantial problems in visuo-motor integration (Beery VMI). Prism-induced hand movement adaptation seemed to be mildly affected. However, no significant impairments in the accuracy of simple eye or hand movements were observed. Also, saccadic eye movement adaptation, a cerebellum dependent task, appeared normal. These results suggest that the motor problems of children with NF1 in daily life are unlikely to originate solely from impairments in motor learning. Our findings, therefore, do not support a general dysfunction of the cerebellum in children with NF1

Impact of von Willebrand disease on health related quality of life in a pediatric population

Clinical epidemiolog

IMPACT OF VON WILLEBRAND DISEASE ON HEALTH RELATED QUALITY OF LIFE IN A PEDIATRIC POPULATION

Thrombosis and Hemostasi

A prospective 10 year follow up study of patients with neurofibromatosis type 1

OBJECTIVE—To establish the prevalence and incidence of symptoms and complications in children with neurofibromatosis type 1 (NF1) and to assess possible risk factors for the development of complications.
DESIGN—A 10 year prospective multidisciplinary follow up study.
PATIENTS—One hundred and fifty children diagnosed with NF1 according to criteria set by the National Institutes of Health.
RESULTS—In 62 of 150 children (41.3%) complications were present, including 42 (28.0%) children with one complication, 18 (12.0%) with two complications, and two (1.3%) with three complications (mean (SD) duration of follow up 4.9 (3.8) years). Ninety five of the 150 children presented without complications (follow up, 340.8 person-years). The incidence of complications was 2.4/100 person-years in this group. An association was found between behavioural problems and the presence of complications.
CONCLUSION—This is the largest single centre case series of NF1 affected children followed until 18 years of age. Children with NF1, including those initially presenting without complications, should have regular clinical examinations.


Mortality and causes of death in patients with hemophilia, 1992-2001: a prospective cohort study

Clotting factor products have been safe for HIV since 1985, and for hepatitis C since 1992. Few studies have reported on mortality in the total population of hemophilia patients after the period of risk of viral infection transmission. We studied the mortality, causes of death, and life expectancy of hemophilia patients between 1992 and 2001. We compared these findings with those of previous cohorts, together spanning the periods before, during, and after the use of potentially contaminated clotting products. We performed a prospective cohort study among 967 patients with hemophilia A and B. Death rates, overall and cause-specific, were compared with national mortality figures for males adjusted for age and calendar period as standardized mortality ratio (SMRs). Between 1992 and 2001, 94 (9.7%) patients had died and two patients were lost to follow-up (0.2%). Mortality was 2.3-times higher in hemophilia patients than in the general male population (SMR 2.3 95% confidence interval 1.9-2.8). In patients with severe hemophilia, life expectancy decreased from 63 (1972-1985) to 59 years (1992-2001). Exclusion of virus-related deaths resulted in a life expectancy at birth of 72 years. AIDS was the main cause of death (26%) and 22% of deaths were because of hepatitis C. In patients not affected by viral infections, there still appeared to be a trend toward a moderately increased mortality compared with the Dutch male population. Thus, mortality of patients with hemophilia is still increased; this is largely because of the consequences of viral infection