Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare disease characterized by muscle weakness — among other symptoms — that starts at a young age. Infants may have difficulty suckling and swallowing, with muscle weakness becoming more problematic as they age.

No cure is available for AADC deficiency, but treatments can help minimize symptoms and improve quality of life.

What is speech therapy?

Speech therapy is a form of physical therapy which focuses specifically on the muscles of the throat, mouth, and jaw. Speech therapists work with patients to strengthen these muscles to improve speech, and the ability to chew and swallow.

Speech therapists can work with patients from a very young age with exercises to strengthen muscles, and improve flexibility and range of motion. They may work with children one-on-one, in small groups, or in a classroom to overcome specific difficulties.

To engage with their young patients, these therapists use different strategies, such as playing or talking, as well as using pictures, books, objects, or events. For young children, therapy is often staged as a playtime activity.

Some therapists may include facial massage and various exercises to strengthen the muscles used for chewing and swallowing. Different food textures and temperatures may be used to help children to focus while they’re eating.

Speech therapy for AADC deficiency

Speech therapy has been shown to be effective in patients with AADC deficiency, who generally have a speech therapist on their healthcare team.

These therapists can work with patients and their parents and caregivers to develop non-verbal communication skills so that patients can communicate without having to talk. Other family members and classmates can also learn these methods. In addition, tools and applications are available for non-verbal communication, with more in development.

 

Last updated: Sept. 12, 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.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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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.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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