One-third of the new paediatric patients with sickle cell disease in The Netherlands are immigrants and do not benefit from neonatal screening.

OBJECTIVES: To estimate the prevalence of children with sickle cell disease (SCD) in The Netherlands. To estimate the annual number of children newly diagnosed as having SCD and the proportion with diagnoses through neonatal screening To estimate the proportion of children with SCD receiving paediatric care in a comprehensive care setting. DESIGN: Data from two sources, a survey of paediatric practices (n=107) and a laboratory database (n=20), were analysed by the capture-recapture method. PARTICIPANTS: Children with SCD aged <18 years, either born before 2003 or newly diagnosed as having SCD between 2003 and 2007. MAIN OUTCOME MEASURES: Prevalence, annual number of children newly diagnosed as having SCD, proportion of children with diagnoses through neonatal screening, proportion of children receiving paediatric care. RESULTS: The prevalence of SCD in children living in The Netherlands on 1 January 2003 was 1:5152 (95% CI 1:4513 to 1:6015). In the next 4 years, the annual incidence was 1:2011 (95% CI 1:1743 to 1:2376). Nearly one-third (27%) of the children newly diagnosed as having SCD immigrated to The Netherlands after birth and would, therefore, be missed by the neonatal screening programme. Approximately 60% of all children with SCD were not reported by paediatricians. CONCLUSION: The number of children with SCD in The Netherlands is much higher than previously estimated, and the majority of these children seem not to be reviewed regularly by a paediatrician. Children born abroad (27% of new cases) do not benefit from neonatal screening and are at high risk of life-threatening complications before SCD is diagnosed. As this introduces disparities in healthcare, the initiation of adequate measures should be considered.

Acquisition time and reproducibility of continuous arterial spin-labeling perfusion imaging at 3T.

Arterial spin-labeling (ASL) is a relatively new and noninvasive MR imaging technique, used to measure cerebral blood flow (CBF). Scanning time and reproducibility remain important issues in the clinical applicability of ASL. We expected both to benefit from higher field strengths. We describe that when performing ASL at 3T, 20 averages suffice to obtain steady and reproducible CBF values. Scanning time can be as short as 3 minutes.

[Recognition of children with sickle cell disease in The Netherlands]. / Herkenning van kinderen met sikkelcelziekte in Nederland.

Timely recognition of clinical signs and symptoms of sickle cell disease remains of great importance because the neonatal PKU screening program in The Netherlands that was introduced in January 1st 2007 will not reach all children with this disease. Of children that have been diagnosed in the Emma Children's Hospital AMC, Amsterdam, 20% would not have been reached by this new program: immigrant's children born abroad and adopted children. It goes without saying that also in children that have been born in the Netherlands before January 1st 2007 the diagnosis sickle cell disease should be considered in cases of disease-specific clinical symptoms. The initial clinical manifestation of sickle cell disease in children born in the Netherlands is potentially life-threatening in 8% (7/88), e.g. a pneumococcal infection or an acute splenic sequestration. Painful crisis, paleness and jaundice are the most common presenting symptoms. The median age at diagnosis of the group of Amsterdam children was 25 months. In view of the potential health benefit it is advised to test children from populations at risk, that are under the medical attention of a hospital for any reason, for the presence of sickle cell disease. This applies especially to children with a pneumococcal infection.

[One year of neonatal screening for sickle-cell disease in Emma Children's Hospital/Academic Medical Center in Amsterdam]. / Een jaar neonatale screening op sikkelcelziekte in het Emma Kinderziekenhuis/Academisch Medisch Centrum te Amsterdam.

OBJECTIVE: Early detection of children with sickle cell disease, determination of carriership frequency as well as evaluation of the knowledge regarding this haemoglobinopathy in various ethnic risk groups. DESIGN: Prospective. METHODS: From 1 November 1998 through to 31 October 1999, the ethnic background was recorded for consecutive pregnant women under care of the Academic Medical Centre, Amsterdam, the Netherlands, and the presence of carriership for sickle cell disease was evaluated. Carriers were asked about their knowledge of sickle cell disease. A diagnostic blood test of cord blood was also performed using a PCR which could detect both haemoglobin S and C mutations. RESULTS: Fifty-five carriers were detected in a group of 1,016 investigated pregnant women (5.4%). The carriership frequencies in Surinam and African women were 12 and 15.7%, respectively. Knowledge of sickle cell disease, its occurrence in populations at risk, as well as the terms 'inheritance' and 'carriership', differed substantially between Surinam and African women, with awareness being lower in the latter group. In six cases informed consent was not asked. All other 49 carriers consented to a diagnostic test. Two intrauterine deaths occurred. Four children had sickle cell disease: three had HbSS, one had HbSC. Nineteen children proved to be carriers for sickle cell disease, 18 were heterozygotes for HbS, one for HbC. CONCLUSION: This targeted neonatal screening for sickle cell disease was feasible in a hospital setting. The number of children diagnosed with the disease supports the wider implementation of this method of early detection.