Mortality and causes of death in children with sickle cell disease in the Netherlands, before the introduction of neonatal screening.

This study analyzed the mortality and causes of death in sickle cell disease patients in the Netherlands, to provide a baseline for monitoring the effect of the recently introduced neonatal screening programme and to indicate areas of improvement in the care for these patients. All children (<18 years) diagnosed with sickle cell disease in a tertiary hospital from 1985 to 2007 were included. Vital status was determined up to March 2008. A total of 298 children were included: 189 (63%) patients had HbSS, 17 (6%) HbSß(0) thalassaemia, 72 (24%) HbSC and 20 (7%) HbSß(+) thalassaemia. Twelve patients (4%) died during a total follow-up of 3896 patient years. All known deaths were sickle cell disease-related. Meningitis/sepsis (n=4; 33%), stroke (n=3; 25%) and death during a visit to the country of origin (n=3; 25%) were the most common causes of death. The overall mortality rate was 0·27 deaths/100 patient years [95% confidence interval (CI): 0·15-0·43]. The estimated survival at the age of 18 years was 97·3% (95% CI: 95-99%). This report confirms that the burden of mortality in sickle cell disease is increasingly shifting to adults. It is recommended that compliance to antibiotic prophylaxis, thorough counselling and support for patients travelling abroad and specialized peri-operative care should receive continuous attention.

Low Prevalence of Severe Underlying Pathology in Children With Recurrent Respiratory Tract Infections.

No underlying pathology could be detected in 64% of 208 children presenting with recurrent respiratory tract infections in general pediatric practice. Asthma/preschool wheezing and adenoid hypertrophy were commonly diagnosed. None of the children had a severe primary immunodeficiency or severe pulmonary illness such as cystic fibrosis. Our findings can guide pediatricians in their diagnostic approach of children with respiratory tract infections.

Development and validation of a pediatric severity index for sickle cell patients.

There is no instrument to measure severity of sickle cell disease (SCD) in pediatric patients that is generally accepted. The aim of this study was to develop and validate a severity index for SCD in children. We developed an index consisting of 12 items and tested its validity of the index using data from 92 children. We tested whether different scores were obtained for patients classified by severity both subjectively and objectively by a partially validated existing index. Furthermore, we tested whether the index could differentiate patients classified according to genotype or the number of α-gene deletions and evaluated whether the score on the index was correlated with the average number and days of hospitalizations/year, age and a risk of death score. We explored the effect of three different weighting systems (Score A, B, and C) to summarize these items. All weightings demonstrated a significant difference between the scores of mild, moderate, and severely affected patients, as classified by a subjective rating or with an existing index (P < 0.01). The index clearly differentiated patients by genotype (P < 0.01) or α-gene deletions (P < 0.01). The correlation with hospitalization was moderate. Age and the risk of death score were weakly associated with the pediatric severity index for SCD. This is the first pediatric SCD severity index that was developed and validated using modern clinimetric methodology. The validity and reliability of this index should be further evaluated in a prospective study including a larger cohort, preferably diagnosed at birth.

Cerebral blood flow measurement in children with sickle cell disease using continuous arterial spin labeling at 3.0-Tesla MRI.

BACKGROUND AND PURPOSE: Cerebral infarction is an important complication of sickle cell disease (SCD) and occurs in one third of the patients with SCD. The risk of infarction is commonly attributed to the hyperemia that is associated with anemia and reduces the cerebral vascular reserve. We measured regional cerebral blood flow (rCBF) by continuous arterial spin labeling MRI, which is a noninvasive method that does not require ionizing radiation. The purpose of this study was to examine rCBF in children with SCD and compare it with rCBF in healthy children. METHODS: rCBF was measured at 3-T continuous arterial spin labeling MRI in 24 neurological normal patients with SCD and in 12 healthy children matched for ethnicity and age (mean age in both groups 13 years). rCBF was calculated for 6 vascular territories (left and right anterior, middle and posterior cerebral artery). Asymmetry in rCBF was evaluated by measuring differences in flow between left and right hemispheres. The definition of asymmetry (>11.7 mL/100 g/min) was based on a repeatability study performed in 6 healthy adults. RESULTS: The rCBF was of similar magnitude in patients with SCD and control subjects in the frontal, middle, and posterior territories. The majority of patients with SCD (58%) demonstrated a left-right asymmetry of rCBF in one or more vascular territories, whereas none of the control subjects did. CONCLUSIONS: In contrast to previous studies, we found no difference in cerebral blood flow between patients and control subjects. We did observe an asymmetry in rCBF in the majority of patients with SCD that was not present in healthy control subjects.

Quality of life of female caregivers of children with sickle cell disease: a survey.

Caring for a child with sickle cell disease poses extra demands on parents, both practically and psychologically, which may influence their quality of life. Since families of children with sickle cell disease in the Netherlands usually belong to immigrant communities with a low socio-economic status, there may be an additional strain on caregivers. The aim of the present study was to evaluate the quality of life of caregivers of children with sickle cell disease. The quality of life of female caregivers of sickle cell disease patients, measured with the TNO-AZL Adult Quality of Life questionnaire, was compared to the norm data of healthy Dutch females (n=700) and female caregivers of healthy children with the same socio-economic status and ethnic background (socio-economic status control group). Groups were compared by the Mann-Whitney U test. Point estimates and 95% confidence intervals of the median difference are presented. The results of questionnaires of 54 caregivers of children with sickle cell disease and 28 caregivers of a control group of the same socio-economic status were analyzed. Caregivers of patients with sickle cell disease had a significantly lower quality of life on all subscales compared to the Dutch norm population. Compared to the control group of the same socio-economic status, the quality of life of caregivers of patients with sickle cell disease was significantly lower on the subscales depressive moods, daily activities and vitality. In this first study reporting on the quality of life of caregivers of children with sickle cell disease, we demonstrate a reduced quality of life in these caregivers compared to the healthy Dutch female population and caregivers of healthy children with the same socio-economic status.