Charge syndrome

Charge syndrome

The cases

Published in Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young, Paediatric Radiology for MRCPCH and FRCR, 2020

Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young

Incidence is 1 : 8000 and unilateral is more common than bilateral. 50% are associated with CHARGE syndrome (Coloboma, Heart disease, choanal Atresia, Retarded growth, Genital hypoplasia, Ear abnormalities). There is also an association with Treacher-Collins syndrome.

Horseback riding therapy for a deafblind individual enabled by a haptic interface

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Journal Information

Published in Assistive Technology, 2018

Matjaž Ogrinc, Ildar Farkhatdinov, Rich Walker, Etienne Burdet

Depending on the age of onset sensory loss, deafblindness can be congenital or acquired. In the case of the former, the impairment occurs before age of two and is also known as prelingual deafblindness. Only around one in five cases of deafblindess is congenital. The common causes are CHARGE syndrome and prematurity (Dammeyer, 2012). On the other hand, the most common cause of acquired deafblindness is an extremely rare genetic disorder known as Usher syndrome. This is the case in approximately half of the people with the impairment—excluding the cases related to aging (Moller, 2003). An accurate identification of congenital impairment is difficult as it requires cooperation of the examined person at a very young age, who may also be affected by severe motor, cognitive, and behavioral impairments.

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The cases

Horseback riding therapy for a deafblind individual enabled by a haptic interface