Genetic disorders/syndromes

There are a large number of genetic disorders/syndromes diagnosed in children. Some genetic disorders occur from addition or loss of an entire chromosome in each cell, others from loss of part of a chromosome and others from microdeletion of some of the contiguous genes within a chromosome. These genetic changes can lead to mild or severe developmental disabilities.

Syndromes may present characteristic patterns (e.g. facial features, limb length, altered muscle tone and hypermobile joints), Examples of syndromes include Trisomy 21 (Down syndrome), Trisomy 18 (Edwards’ syndrome), Trisomy 13 ( Patau’s syndrome) and Turner’s syndrome.
Genetic disorders which stem from an abnormality in a single gene may include Cystic Fibrosis, Prader- Willi syndrome, phenylketonuria and Fragile X syndrome.

Children with a genetic syndrome are likely at risk for developmental delays in many areas of function which may include: motor planning skills, language and cognitive skills, self-care skills (including feeding difficulties) and peer/social engagement.

The StarPhysio therapy team are highly experienced paediatric physiotherapists and have worked with a wide range of children with genetic disorders and syndromes in the community (nurseries, schools and homes), and in the hydrotherapy pool. We work closely with our clients and their families to identify the activities that matter to them and can provide treatment to help achieve their optimal level of function.