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Published on: September 6, 2017
Neurophysiologic and intellectual evaluation of beta-thalassemia patients
Marina Economou1, Dimitrios I Zafeiriou, Eleftherios Kontopoulos
11st Department of Pediatrics, Aristotle University of Thessaloniki, and Thalassemia Unit, Hippokratio General Hospital, Thessaloniki, Egnatia St. 106, Thessaloniki 546 22, Greece.
Insights
Beta-thalassemia patients undergoing regular treatment show normal neurophysiologic function but a high prevalence of cognitive dysfunction. Chronic illness factors may contribute to intellectual impairment in these patients.
Area of Science:
- Neurology
- Pediatrics
- Hematology
Background:
- Beta-thalassemia is a genetic blood disorder requiring chronic management.
- Central and peripheral nervous system involvement in beta-thalassemia is not fully understood.
- Neurophysiologic and cognitive functions in treated pediatric patients need further investigation.
Purpose of the Study:
- To assess neurophysiologic function and intellectual capacity in children and young adults with beta-thalassemia.
- To identify potential correlations between disease parameters and neurological or cognitive deficits.
Main Methods:
- Prospective study of 32 beta-thalassemia patients (mean age 14.5 years) on regular transfusion and chelation therapy.
- Neurophysiologic evaluation including evoked potentials (BAEP, VEP, SEP) and nerve conduction studies (MCV, SCV).
- Intellectual assessment using the Weschler Intelligence Scale for Children (WISC-III) for patients under 16.
Main Results:
- Low incidence of abnormalities in brainstem auditory evoked potential (BAEP), visual evoked potential (VEP), somatosensory evoked potential (SEP), and nerve conduction velocities (NCVs).
- High prevalence of abnormal total IQ scores (36.4%) was observed.
- No significant correlation found between cognitive dysfunction and age, sex, ferritin levels, or neurophysiologic parameters.
Conclusions:
- Pediatric beta-thalassemia patients on chelation therapy exhibit largely normal neurophysiologic function.
- Cognitive dysfunction is prevalent and may be linked to chronic illness factors rather than the disease or treatment itself.
- Further research is needed to elucidate the mechanisms behind cognitive impairment in beta-thalassemia.
Abstract:
In order to detect involvement of the central and peripheral nervous system in beta-thalassemic patients, 32 children and young adults (mean age 14.5 +/- 6.4 years) participated in a systematic neurophysiologic and intellectual prospective study. All patients were in a regular transfusion program, receiving subcutaneous desferrioxamine chelation and maintaining a mean serum ferritin level of 2,101.56 +/- 986.32 ng/ml. Study patients underwent neurophysiologic evaluation consisting of brainstem auditory, visual and somatosensory evoked potential examination (BAEP, VEP, SEP) as well as motor and sensory nerve conduction velocity studies (MCV, SCV). Additionally, the verbal, performance and total IQ were assessed in patients under 16 years of age using the Weschler Intelligence Scale for Children (WISC-III). The incidence of abnormal BAEP, VEP, SEP and NCVs was 0, 3.12, 3.12 and 18.75%, respectively, findings comparative to or better than previously reported. On the contrary, the prevalence of abnormal total IQ score was considerably high (36.4%), not correlating, however, to any of the parameters assessed (age, sex, ferritin level, BAEP, VEP, SEP, NCV). Factors associated with chronic illness, rather than the disease per se, could play a potential role in the development of cognitive dysfunction in beta-thalassemia patients.
