Quality of Care of Children With Sickle Cell Disease (SCD) Screened at Birth in France
Condition: New-borns Screening; Sickle Cell Disease
MeSH terms: Anemia, Sickle Cell
Study type: Observational

Summary: 
      The main objective of this study is to evaluate at the national level (France)

        -  the early healthcare practices for children with sickle cell disease screened at birth,

        -  the adequacy of theses practices with the national recommendations,

        -  their variability over time and according the characteristics of treatment centers.

      Will be studied in particular the diffusion of the latest preventive measures (practice of
      trans-cranial Doppler and pneumococcal conjugate vaccine) and their link with the residual
      risks of death, stroke and invasive pneumococcal infections. The study includes all patients
      born in France between 01/01/2006 and 31/12/2010. Events are recorded and analysed only
      during the first 5 years of life.
    

Detailed description: 
      In agreement with the National Insurance Fund (CNAMTS) and the French Association for
      Screening and Prevention of Child Handicaps (AFDPHE), the French SCD newborn screening (NBS)
      program is not universal but "targeted" to children identified "at risk" because of the
      geographical origin of their parents (from a country where the prevalence of sickle cell
      trait is high: Sub-Saharan Africa, the Caribbean, North Africa, Mediterranean Basin). The
      number of children diagnosed at birth is increasing steadily each year and sickle cell
      disease is now in France the most common disease found among those screened in the neonatal
      period. The total number of new-borns diagnosed by NBS from 01/01/2006 to 31/12/2010 is 1800
      (AFDPHE data).

      In the absence of preventive care, a high mortality rate is observed during the first 5 years
      of life, the two main causes of death being invasive pneumococcal infection and splenic
      sequestration acute. Early care allows to largely preventing invasive pneumococcal disease
      (by combination of PeniV long-term treatment and pneumococcal vaccinations) and severe acute
      splenic sequestrations (by establishing a parent education program). Also, prevention of
      cerebral vascular disease, the most serious complications of sickle cell disease in young
      children, has been made possible the last 10-15 years by the systematic use of trans-cranial
      Doppler (TCD). In rich countries, the mortality rate of SCD children detected at birth, is
      now reduced to less than1-2%. The last French report analysed the results of national NBS
      program for the period 1995- 2000. Consequently these results did not take into account the
      most recent advances (use of pneumococcal conjugate vaccine and diffusion of TCD). It is now
      well demonstrated that these two preventive actions have further improved the morbidity and
      mortality of children with sickle cell disease.

      Recently the French paediatric team from Creteil (France), reported the results of 217
      children screened at birth between 1988 and 2007: this single-center study finds excellent
      results with a 1.9% probability of occurrence of stroke at the age of 18 years for SS and
      S-Beta0 children. These results should be compared with those obtained for the whole
      concerned population in France. In order to describe and analyse recent national results on
      residual morbidity and mortality, the investigators conducted this national retrospective
      study (EVADREP) studying clinical care during the 5 first years of life of SCD patients
      diagnosed at birth for the period 2006- 2010.
    

Intervention name(s): No intervention
Intervention type(s): Other
Observational model: Cohort
Time perspective: Retrospective
Sampling method: Non-Probability Sample
Study population: 
        The project is national and aims exhaustiveness of participation of all children diagnosed
        with major sickle cell syndrome through newborn screening in the period of interest. The
        choice 2006 - 2010 is justified by the fact that during this recent period, new prevention
        tools (TCD, Prevenar) were fully available. The upper limit set on 31/12/2010 led for all
        children to a minimum follow of 3 years,
      
Keywords: major sickle cell disease (SCD); children; pneumococcal preventive measures