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Asian Pacific Journal of Nursing

Volume 10, Issue 2, 2023
Mcmed International
Asian Pacific Journal of Nursing
Issn
XXX-XXXX (Print), 2349 – 0683 (Online)
Frequency
bi-annual
Email
editorapjn@mcmed.us
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Abstract
Title
CHARGE SYNDROME
Author
Manish Kumar Balai* and Raghu V.A.
Email
manasvi.manish.29@gmail.com
keyword
CHARGE, CHD7, Coloboma, Atresia , Syndrome.
Abstract
CHARGE syndrome is a condition that is diagnosed based on clinical findings of coloboma, heart disease, choanal atresia, retarded growth or development, genital urinary anomalies and ear abnormalities or hearing loss. This syndrome is caused by genetic mutation of CHD7 gene2. This mutation disrupts the chromatin remodeling and gene expression which is responsible for sign and symptoms of CHARGE syndrome. The incidence of CHARGE syndrome is 1 in 8, 500 to 10,000 newborns2. An expert group classifies the major “4”C (Coloboma, choanal atresia, cranial nerve abnormality and Charge ear ) and minor criteria for diagnosis of Charge syndrome. Child’s with all four or three major and three minor criteria most likely to have CHARGE syndrome. In coloboma it mainly affects retina and optic nerve and due to abnormality in cranial nerve child may have hearing loss and facial paralysis. Choanal atresia may be bilateral and unilateral or it may be bony or membranous choanal atresia. Congenital heart defect mostly tetralogy of fallot account 70-80% in child. Some children Develops behavioral and mental problems also. Children with charge syndrome require intensive medical and surgical interventions. They require continuous observation to assess the milestone. Child’s with CHARGE syndrome require educational, occupational, speech therapy and behavioral therapies for to improve quality of life.
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