Author/Authors :
shaheen, elham a. cairo university - faculty of medicine - department of phoniatrics, Egypt , el-dessouky, hossam m. cairo university - faculty of medicine - department of phoniatrics, Egypt , meguidb, nagwa a. national research centre - department of research on children with special needs, medical genetics division, egypt , abdel azizb, rasha s. national research centre - department of research on children with special needs, medical genetics division, egypt , fahim, cherin mcgill university - faculty of medicine, montreal neurological institute, mcconnell brain imaging centre - department of neurology neurosurgery, Canada , samir, ahmed ain shams university - department of radiology, Egypt
Abstract :
Normal language development is dependent upon both neural centers and brain connections. Several areas of the brain control different linguistic skills. Gene-brain links are crucial in the normal neurodevelopment of the brain and changes in gene function can affect brain morphology, function and organization Fragile X syndrome is the second most common genetic, inherited neurodevelopmental disorder caused by mutations of the Fragile X mental retardation 1 gene that encodes the fragile X mental retardation protein. Males are more severely affected than females. Moderate to severe delay in Language development have been reported in all aspects of language. The objective of this work is to correlate between the brain morphology and the language profiles in Fragile X syndrome in order to reach better understanding of the characteristic communicative deficits in this syndrome. Subjects and Methods: This study was conducted on 40 Arabic speaking Egyptian boys. Their ages ranged from 6 to 15 years. They were divided into patient Group: 20 full mutation Fragile X syndrome boys from special needs clinic, national research center, and Control group: 20 normal Arabic Speaking Egyptian boys. All were subjected to the protocol of assessment applied in the Phoniatric Unit Kasr El-Aini Hospital, as well as the Arabic language test, and to the Magnetic Resonance Imaging to measure the cortical volume, complexity, Gyrification index, thickness and surface area. Results: Revealed significant differences between fragile X syndrome children and control group regarding Language age items and of most of the magnetic resonance items. There are significant Correlations between different items of language items and some of the magnetic resonance items. Conclusion: FXS children has delayed language development associated with abnormality in the studied items of the brain.
