Research on the collaboration between educators and medical practitioners of children with 22q11.2 deletion syndrome at schools

Abstract

22q11.2 deletion syndrome (22q11.2 DS), also known as DiGeorge syndrome, or Velocardiofacial syndrome, is a disorder caused by a small amount of genetic material (DNA) missing from one of the chromosomes that are in each cell of our bodies. That tiny missing piece of the 22nd chromosome can cause a wide variety of problems that present from birth, such as defects in the heart and other organs, intellectual disabilities and learning difficulties, developmental delays and neuorodevelopmental disorders in some people, while others can go through life without realising they have it. Family members of individuals with the disorder are also likely to be affected, which is why efforts are being made to assist the families of people with 22q11.2 DS. Associate Professor Chiaki Kitamura, Faculty of Nursing, Seisen Jogakuin College, Japan, is a researcher doing just this. In particular, she wants to ensure that individuals with the disorder receive educational support from an early stage and that their family, caregivers and siblings learn about and understand 22q11.2 DS. In their project, Kitamura and her team are exploring the collaboration between educators and medical practitioners of children with 22q11.2 DS at schools. Kitamura wishes to identify a means of explaining the condition in a simple and effective manner and hopes this knowledge will improve the lives of patients and their families. As such, the team has developed a learning support guide to be used by educators and the families of 22q11.2 DS patients. The goal of the guide is to enhance the cooperation between medical care staff and educators. The researchers will disseminate the guide and facilitate understanding of the diversity of individuals with 22q11.2 DS, thereby promoting medical education.