Tuesday, 29 June 2010 19:12

Family planning and Charge Syndrome

Charge Syndrome FoundationThis item is on the special edition of Charge Accounts. This is the official journal of the US Charge Syndrome organization. This special edition is on family planning.

Issues are discussed such as what is the recurrend risk of another CS baby in my family? Parents always like to know for sure whether their child is 'really Charge' the discovery of the 'Charge gene' (CHD7) does not rule out other diagnoses.

Published in Jan's blog
Monday, 19 April 2010 11:41

Communication

An example of a communication assessment will be shown in the next video clip.

Iris is a student with CHARGE Syndrome. Her mother conducts the assessment at home. In this clip, mother makes it clear to Iris that her little sister, Laura, must go to bed. With careful observation, you can see that Iris and her mother look at Laura simultaneously. The subject of conversation is on both their minds. This is called joint attention.

Iris then takes the conversational initiative, by climbing onto mother’s lap and kissing her. She’s communicating to mother that she should also give Laura a kiss. At this stage of development, Iris has no formal system (e.g. speech or signs) for communicating her intentions.

Published in Jan as Assessor
Wednesday, 07 April 2010 18:24

Charge Syndrome

CHARGE Syndrome is a major cause of deafblindness, characterized by many typical symptoms. The name CHARGE is an acronym for the six characteristics that are often present. These are:

  • Coloboma (key hole type opening in iris and retina)
  • Heart defect
  • Atresia of the choanae (blockage of the passages between the nasal cavity and the naso-pharynx)
  • Retarded growth and/or development
  • Genital hypoplasia
  • Ear anomalies/deafness
Published in Jan as Researcher