Finding early Indicators of Neurological Damage in Sickle Cell Disease

Sickle cell disease is a heriditary hemoglobinopathy leading to irreversible
organ damage throughout the body. Brain infarction occurs at a very young age,
either accompanied by neurological deficits (overt infarction), or without
(silent infarction). These silent infarcts are a risk factor for overt
infarction and are associated with diminished neurocognitive functioning. There
are several known risk factors for overt infarction, including clinical,
laboratory and genetic factors. However, little is known about the etiology and
risk factors for silent infarction. Timely recognition of patients at high risk
for early neurological damage is important for prevention and treatment of
future patients.

Main objective of the current study is to evaluatie clinical, laboratory and
genetic risk factors associated with prograssion of neurological damage. The
final objective is to make a prognostic model of these risk factors to predict
early neurological damage.

The currenct study is an observational study, in part retrospective and in part
prospective. At inclusion and after a follow up of 2 years, cerebral MRI is
performed, as well as a neurological examination and neuropsychological
examination. Furthermore, several laboratory parameters are evaluated yearly,
retrospective data is also used. Genetic testing is performed once.

The risks of the investigations needed for this research are negligible and the
burden to participate is minimal. Children with sickle cell disease are used to
frequent appointments in the outpatient clinic, and it is usual for these
children to undergo physical examination and MRI scanning. Therefore,
neurological examination and neuropsychological testing can be considered
similar as compared to normal life of these children.
Appointments will be planned at the same time of the outpatient clinic
appointments when possible; the final burden is limited.
The study will be conducted according to the *Code of conduct relating to
expressions of objection by minors participating in medical research* approved
by the Board of the Dutch Association of Paediatric Medicine.