Genetic and Metabolic Syndromes

What are Genetic and Metabolic Syndromes?

Genetic and metabolic syndromes can be linked and can cover a range of conditions including Angelman’s syndrome, Cri du Chat and Prader Willi Syndrome.

What causes these syndromes?

Chromosomes are made up of genes which make up all proteins in the body, which promote development and growth, and carry out all body functions. Genetic syndromes are caused by an abnormality in the chromosomes and therefore genes of a person. When these chromosomes are missing, duplicated or mutated the proteins may not get made, may be made incorrectly, or too many may be made.  Any of these situations can cause abnormal development and growth and can result in a genetic syndrome.  Sometimes these abnormal genes or chromosomes are passed down from a parent, and sometimes they occur spontaneously without reason.

What Therapies for Kids can do

Your child will be thoroughly assessed by one of our experienced paediatric therapists. The therapist will assess age appropriate and functional fine motor, gross motor, play, cognitive and self care skills.

  • Assist development of fine motor skills such as grasping and pinching
  • Assist to develop play and cognitive skills
  • Improve participation and independence in functional activities such as dressing and toileting
  • Improve arm, wrist and hand strength, coordination and control
  • Improve confidence and socialisation with peers through improved motor skills
    • Address sensory integration concerns
    • School readiness / preparedness
    • Assist with transition to preschool and school
    • Equipment and environmental modification as required
    • Cognitive development through play and learning
    • Develop the required attention skills required for school

What you can do

Incorporating the activities your therapist recommends into your child’s day is important to get the most out of your therapy. This could include involving your child in functional activities such as preparing meals; encouraging them to wash themselves, feed themselves and dress themselves to encourage independence and encouraging drawing, painting and colouring to obtain pencil control as advised by the therapist.