DFST 309 Lecture Notes - Lecture 4: Choanal Atresia, Charge Syndrome, Chd7

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Week 4 class 4 february 18, 2019. Dfst 309 - introduction to deafblind culture and communication spring 2019. Charge acronym (1981) (charge syndrome foundation, 2019) C coloboma of the eye (hole in the eye; eye condition) A atresia of the nasal choanal (problem behind the nose) R retardation of growth and/or development. E ear abnormalities and hearing loss (charge syndrome foundation, 2019) Caused by a genetic disorder (chd7 gene) Not hereditary - can be identified through genetic testing. Occurs in about 1 in 10,000 births worldwide. Hearing/vision loss and balance problems delay child"s development and communication. Impacts 4 out of 5 senses (hearing, vision, taste, smell) Requires years of medical and education intervention (charge syndrome foundation, 2019) Acronym was a way to refer to a newly recognized cluster of features seen in children with charge. Became clear that charge was a syndrome. At least one gene causing the syndrome has been discovered (charge syndrome foundation, 2019)

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