Children with aromatic l-amino acid decarboxylase (AADC) deficiency may require the help of aids and other special equipment to deal with the challenges posed by the disease. There are a number of tools and adaptive devices that you and your child may find helpful.
What is AADC deficiency?
AADC deficiency is a genetic neurometabolic disease, the symptoms of which usually manifest in early infancy. The disease affects the nervous system and hinders the ability of nerve cells to communicate with the rest of the body.
The symptoms of AADC deficiency include movement disorders such as slowness, uncontrolled erratic movements, tremor, involuntary upward eye movement, and involuntary muscle twisting. Your child also may experience fatigue and breathing, eating, and sleeping problems.
Will my child need mobility aids?
As a result of the disease, your son or daughter will likely have low muscle tone, which can affect walking. Doctors can prescribe orthotic devices to support their muscles while they are walking or standing. They also can suggest ankle-foot orthoses (AFOs), which can be tailored to suit your child’s needs. AFOs are braces that help stabilize the ankle, foot, and leg below the knee. For better joint alignment and stability, your child may benefit from knee-ankle-foot orthoses, which are like AFOs except they also cover the knee.
Ask a physiotherapist or occupational therapist which mobility devices would be best for your child’s needs. The therapist can teach your child how to use them. Walkers and canes, for example, can reduce pressure on muscles when walking, and also can help prevent falls. Your child may need a wheelchair to move around at school.
How can I help my child communicate better?
Many children with AADC deficiency are nonverbal, so your child may need an adaptive tablet at school that will help them communicate. A speech and language therapist can suggest other assistive technology that can help with communication, such as text-to-speech screen readers, alternative keyboards, voice recognition devices, and screen magnification software.
Will your child need a feeding tube?
If your child isn’t able to get enough nutrients through eating and drinking, or if he or she can’t swallow safely, a gastrostomy tube, or G-tube, may be necessary. A feeding specialist can evaluate your child’s needs — assessing feeding techniques, patient positioning, and oral motor function — and determine whether such a step is necessary.
If your child needs a G-tube, doctors will insert this through your child’s abdomen via a procedure called a gastrostomy. This is a common procedure that takes about 30 to 45 minutes. In this way food is delivered directly to your child’s stomach. To do so you can use the bolus method, in which you use a syringe to send formula through your child’s G-tube. The syringe you will use is called a catheter syringe. A catheter syringe doesn’t have a needle. It has a hole and a plunger in it. You draw up the formula through the hole in the syringe. You then push the formula into your feeding tube with the plunger. A bolus refers to one “meal” of the prescribed formula.
How can assistive technology help?
There are a growing number of apps and gadgets on the market that can help support your child. For example, because your son or daughter may have difficulty controlling their body temperature, an automated thermostat could be useful. This would relieve you or your family members from having to make frequent adjustments.
As your child grows, you may need to consider technology that you could adapt to your house or car that could improve his or her quality of life.
Last updated: April 22, 2020
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 healthcare providers 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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