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 11:34

What information is already available?

The second step is finding out what information is already available about the question being asked.

An interview with the parents or teacher is often very valuable. Video clips (e.g. recordings of self help skills) or a description of the child’s educational materials (e.g. preferred toy[s], communication board, object cues) sometimes shed light on his/her level of functioning.

If the child has physical problems, medical information is extremely valuable (e.g. the child takes medication for epilepsy or for Attention Deficit Hyperactive Disorder [ADHD], psychotropic drugs to control behaviour, or wears arm splints to prevent self-abuse).

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
Monday, 05 April 2010 10:11

Usher Syndrome

For more than ten years, I was the coordinator of a multidisciplinary team at Viataal (Sint-Michielsgestel), which assessed people who had hearing impairments and concurrent visual problems. The team consisted of an ENT specialist with great interest in syndromes, an ophthalmologist, an audiologist, a psychologist, and mobility instructors, who also functioned as assessment assistants. The Center, called the "Vision Assessment Center," used assessment techniques that provided important information about a person’s hearing and vision, behaviour and learning. It was the coordinator’s job to translate all the information into practical suggestions for (re)habilitation, learning, and improvement of behaviour.

Published in Jan as Researcher
Friday, 02 April 2010 14:32

Congenital Rubella Syndrome 1

A little bit of history.

My first research project was on deaf and deafblind children who were born with multiple disabilities because their mothers had been infected by the rubella virus during pregnancy. At the time I started my research, I had over ten years experience teaching children who were deafblind due to Congenital Rubella Syndrome (CRS). As a graduate student in special education and clinical psychiatry, I was intrigued by the peculiar behaviour of these children, and their strange ways of learning.

Heather Hewitt, Director of Monnington, an organisation in Melbourne, Victoria (Australia), invited me to cooperate with her team in a research project on "rubella children." The rubella epidemics of the 1960s had left Australia with many victims. I worked with the psychological staff of Monnington to collect data on 81 children, with a mean age of 65.7 months, who were deaf and deafblind due to rubella. Of these 81 children, 63 were "deaf only." 18 had additional visual impairments because of bilateral cataracts. This was the deafblind group.

Published in Jan as Researcher