Etiology of mental retardation/developmental delay in children and investigation of clinical findings

8.SUMMARYAim: Mental retardation is a lifelong human disability characterized byimpairment of cognitive and adaptive skills. It is a condition of great concern forpublic health and society. Which the etiopathogenesis encompasses so manydifferent entities, mental retardation is estimated to occur nearly 3% of the population,and research on its etiology has always been a challenge in medicine. The aim ofthis study was to determine etiologic causes of mental retardation.Material and Method: The study group was identified through a retrospectivechart review of all children referred to the pediatric clinic of The Pediatric Departmentof Düzce Üniversity Medical Faculty for evaluation of any reason. A total of 106developmental delay or mental retarded child were determined and studiedretrospectively.Results: 106 children (60 males, 46 females) met the inclusion criteria among3750 new children seen at the pediatric clinic. The mean age at the time ofassessment was 5,3±4 years (range 6 months-16 years). The degree of mentalretardation was mild in 73,4%, moderate in 17,7%, severe in 7,6% and profound1,3% cases. Etiologic diagnosis were determined in 52% of the patients classifiedunder the following categories: perinatal complications in 14 (13,2%) patient, cerebraldysgenesis in 11 (10,4%), chromosomal abnormalities in 10 (9,4%), metabolicdisorders in 10 (9,4%), postnatal complications in 6 (%5,7) and genetic/dysmorphicsyndromes in 4 (3,8%), cases. The diagnosed group consist the 10 (9,4%) patientswith chromosomal abnormalities were Down syndrome in 6 cases, Turner syndromein 1, Klinefelter syndrome in 1, Trisomy 8 in 1 and partial 4q Trisomy in 1 case.Metabolic disorders were hypothyroidism in 5 cases, phenylketonuria in 1,mucopolysaccharidoses in 1, glycogen storage disease in 1, osteopetrosis in 1 andhyperphosphatasia in 1 case. 50 (47%) patients had an abnormality in serebral64imaging. Patients had some others impairments, these were visual impairment in 25(23,6%) patient, hearing impairment in 17 (%16), epilepsy in 35 (33%), behavioraldisorders 32 (%30,8) and cerebral palsy in 21 (%19,8)Conclusion: So many causes may be found in mental retardation and theymay show differences from culture to culture. n spite of the a lot of studies in manypatients etiology can?t be found. Larger studies are need to enlighten etiology inmental retardation. Specific diagnosis in these patients will clarify the possiblecauses of the problem and pathogenesis, thus it will help to inform the familiescorrectly about risks of reemerging of disease and prognosis, treatment possibilitiesand prenatal diagnosis.Key Words: Mental Retardation, Developmental Delay, Etiology,Chromosomal Abnormalities65