Angelman Syndrome

Signs and symptoms:

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

Motor involvement:

• Tremors
• Wide based gait
• Jerkiness
• Ataxia (presence of abnormal, uncoordinated movements) 
• Loss of balance

How physio can help:

• Work on mobility, gross motor function, strength, and increasing bone density
• Monitor for scoliosis
• Make recommendations for the use of orthotics

Kabuki Syndrome

Signs and symptoms:

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

How physio can help:

• Play therapy to help with gross motor development and strengthening

Prader-Willi Syndrome

Signs and symptoms:

• 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 

How physio can help:

• Early intervention to help support meeting motor milestones
• On-going play-based physiotherapy for endurance, strength, and development