Núñez GG, Ramírez VN, Hernández LY, Bermejo GB

Language: Spanish
References: 0
Page: 1-11
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ABSTRACT

A case is presented that is attended in the area of speech therapy in the International Center of Health "La Pradera" in Havana, Cuba. He is a chilean patient, diagnosed with an Angelman syndrome, caused by a deletion of the maternal chromosome in the region 15 q12, where the active gene of UBE3A resides, confirmed by genetic studies: karyotype and fluorescence in situ hybridization of chromosome 15. A descriptive overview was made through all its rehabilitation follow-up for 2 years, confirming a satisfactory rehabilitation according to its genetic disorder, allowing the patient to find channels of extraverbal communication and development of their understanding. We aim to promote an extraverbal communication way for patients with Angelman syndrome, with the deletion variant on chromosome 15. In Angelman syndrome, diagnosis and early intervention are the best treatment. Most patients have a steady progression of development, and there is no retreat. People who have seizures usually need medical care. Physical, occupational, speech, and behavioral therapies contribute to improved quality of life. They are unlikely to live independently, but it is beneficial to encourage independence as much as possible. Individuals with Angelman's syndrome learn best through repetition and structure. The system of activities for the alternative communication enriches the speech therapy treatment and provides a way that can be used for the stimulation of the oral language and the compression.