Evaluation of mental retardation -- Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation

Yüksel, Adnan; Kayserili, Hülya; Yeşil, Gözde; Apak, Memnune Yüksel
July 2007
Journal of Pediatric Neurosciences;Jul-Dec2007, Vol. 2 Issue 2, p53
Academic Journal
Two thousand nine hundred and seventy-five patients with mental retardation or multiple congenital anomaly and mental retardation (MR or MCA/MR), who were referred to Istanbul University (Departments of Medical Genetics of Cerrahpasa Medical Faculty and Istanbul Medical Faculty) in between 1985 and 2005, were evaluated in order to find out the factors that elucidate the etiology (age at first observation, number and periods of observations and completion of laboratory tests). This is a complementary study of the first part revealing the etiologic classification of MR or MCA/MR patients in our clinics that were performed by 4659 patients. For this part of the study, cases with clinically diagnosed Down Syndrome patients (n: 1179) and neural tube defects (n: 505) were excluded out of the 4659 patients because of availability of diagnosis at first sight. Thus, 2975 patients with MR or MCA/MR were evaluated for the factors that help in the elucidation of the etiologic diagnosis such as age at first observation, number and periods of observations, completion of laboratory tests and the way of diagnosis). The most frequent ages of the MR or MCA/MR patients who were referred for the first time to our genetic clinics were between 1 and 5 years. Moreover, the maximum diagnosis rate was found to be between 1 and5 years of life (50.92%). The ratio of diagnosis at first examination was 27.59% in MR or MCA/MR patients. However, most of them did not attend following examinations (954/2975, 34.31%). From the patients that had a diagnosis, 70.50% of them underwent diagnosis at first examination. The patients who had an etiological diagnosis were mostly examined during 0 to 1 year. Further, a significant number of the diagnosed cases belonged to this group (86.15%). In these patients, 32.67% of undiagnosed cases had incomplete investigation results and 24.83% of them had none of the test results. This quotient was less in diagnosed cases. Etiologically diagnosed 1163 patients were investigated for the method of diagnosis. The results were determined as follows: 459 had a clinical diagnosis (45.48%) and 634 had a specific diagnosis by applying particular laboratory tests (54.51%). This study will be the one of the biggest study in Turkey and also around the world, evaluating the most frequent patient group referred to genetic clinics - MCA or MR.


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