Angelman Syndrome

Angelman syndrome is a genetic disorder that mostly affects the nervous system. Signs and symptoms include:

• Severe developmental delay and learning disabilities
• Jerky movements of the arm and legs 
• May include sleep disorders, seizures, and feeding disorders 
• Significant communication difficulties

The child can also experience motor issues such as tremors, wide-based gait, jerkiness, ataxia (presence of abnormal, uncoordinated movements), and loss of balance. Physiotherapy can assist by: 

• Working on mobility, gross motor function, strength, and increasing bone density
• Monitoring for scoliosis
• Making recommendations for the use of orthotics

Kabuki Syndrome

Kabuki syndrome is a rare congenital disorder of genetic origin that can affect multiple parts of the body. Signs and symptoms include: 

• Characteristic facial appearance: Microcephaly, hypotonia, eye problems, cleft palate
• Mild to moderate intellectual disability 
• Skeletal abnormalities including spine abnormalities and joint dislocations

Physiotherapy can assist children by introducing play therapy to help with gross motor development and strengthening.

Prader-Willi Syndrome

Prader–Willi syndrome is a genetic disorder caused by a loss of function of certain genes on chromosome 15. Signs and symptoms include:

• A genetic multi-system disorder characterized during infancy by lethargy
• Diminished muscle tone
• Weak suck and feeding difficulties with poor weight gain
• Cognitive impairments and growth
• Hormone deficiency 

Early intervention with physiotherapy can help in supporting children to meet their motor milestones. On-going play-based physiotherapy allows for increased endurance, strength, and development.