Occupational therapy is an essential aspect of treatment for people with aromatic l-amino acid decarboxylase (AADC) deficiency, a rare genetic disease that causes muscle stiffness and weakness and developmental delays.

AADC deficiency is characterized by severe deficits in the levels of key cell signaling molecules such as dopamine and serotonin, which affects signals between the nervous system and the rest of the body. This results in issues such as low muscle tone.

Occupational therapists evaluate individuals’ functional status and devise strategies to help them perform daily tasks as efficiently as possible. With OT, people with AADC deficiency can better participate in everyday activities at home, school, and elsewhere.

How does AADC deficiency affect the body?

The major symptoms of AADC deficiency include:

  • Hypotonia (low muscle tone)
  • Sleep problems and fatigue
  • Developmental delays in motor skills, speech, and cognition
  • Movement disorders, including oculogyric crises, which affect the eyes
  • Uncontrolled muscle movements (dystonia) and epileptic seizures
  • Autonomic issues, including excessive sweating, eye problems such as ptosis (droopy eyelids), nasal congestion, and low blood pressure

How can occupational therapy help AADC patients?

Occupational therapists can suggest several strategies that can help people with AADC deficiency in their daily activities. These include:

  • Using adaptive devices and aids such as orthotic braces that may be required for walking.
  • Educating family members, teachers, and caregivers about how best to help the patient with daily tasks and activities, and teaching them the use of devices that a person with AADC deficiency may need.
  • Suggesting changes to the individual’s home, school, or social environment that could be beneficial in easing the performance of daily tasks, including dressing, feeding, grooming, toileting, and bathing.
  • Recommending strategies that can improve sleep and overcome fatigue
  • Suggesting stretching, exercises, and other activities that can improve strength, endurance, fine and gross motor skills, postural control, body awareness, and coordination. All of these can improve mobility and help better the person with AADC deficiency to better perform everyday tasks.
  • Helping infants with hypotonia to improve hand-eye coordination, hand manipulation, and head control through play activities.
  • Motivating children to achieve age-appropriate goals.
  • Helping with non-verbal cues, with physical actions or visual models, wherever necessary.
  • Suggesting activities that can improve attention and help children, in particular, attain better sensory awareness and visual perception. Such activities can help people with AADC deficiency to respond appropriately to touch, smell, taste, sound, and visual cues.

 

Last updated: Sept. 17, 2019

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AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.