There are a large number and variety of genetic disorders/syndromes diagnosed in children. Some genetic disorders range from addition or loss of an entire chromosome in each cell to loss of part of a chromosome to microdeletion of a number of contiguous genes within a chromosome. These deletions can cause mild or severe developmental disabilities. Syndromes may present characteristic symptom patterns (e.g. facial features, limb length, organ anomalies, abnormal muscle tone and hyper-mobile joints), Examples of these 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, Taylor Sachs disease, Fragile X syndrome, Williams syndrome and diabetes.
Children with a genetic syndrome often have related health problems which may include cardiovascular abnormalities, obesity, high incidence of respiratory infections , thyroid deficiencies, visual impairments, sensory processing disorder or gastrointestinal problems. Children 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 Occupational and Physical therapists at Duke University Children’s hospital collaborate with team members and provide patent education and implement various strategies and modalities to help these children achieve their optimal level of function through out their developmental years as needs arise.