Construction of the theoretical framework of care guide for people with 22q 11.2 deletion syndrome

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is the most common microdeletion syndrome in humans and is estimated to affect one in every 2,000 to 4,000 live births. 22q11.2DS has many possible signs and symptoms that can affect almost any part of the body, including cleft palate, heart defect, feeding problems, unique facial characteristics, hearing loss, developmental delay and learning disabilities. The severity of the condition can vary significantly between patients. Although some children with 22q11.2DS will require ongoing medical support or may be waiting for further surgeries, in many cases 22q11.2DS patients will have overcome their life-threatening conditions by the time they begin school. Nonetheless, at school age, these children still face developmental and cognitive difficulties that can impact learning. 22q11.2DS can impair gross motor skills (e.g. sitting, walking, moving), fine motor skills (e.g. handwriting) and lead to delayed speech, language and communication.