Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by muscle weakness and stiffness. Patients with AADC deficiency often experience physical and mental developmental delays.
There is currently no cure for AADC deficiency, but there are treatments that can improve symptoms of the disease. These symptoms tend to get worse later in the day when patients are tired and improve after rest. Therefore, AADC deficiency can affect many aspects of the lives of patients, including school and daycare.
Individualized education plans
Most patients with AADC deficiency will attend school or daycare. It is important for children to have a positive school experience, interact with peers, and develop social skills in addition to academic achievements.
Parents and caregivers should develop an individualized education plan (IEP) with the school. An IEP is a plan that outlines what accommodations the child will need, and how the school and parents will work together to meet them. The IEP is a dynamic plan; it should be updated frequently, as the patient’s needs change over time.
Aids and adaptive devices
Children with AADC deficiency may need adaptive devices, such as braces or wheelchairs, to help them move around at school. This means that the school may need to provide special access or accommodation for the child.
Many children with AADC deficiency are nonverbal, so they may need to have permission to bring an adaptive tablet to school that helps them communicate. Classmates and teachers may need to be taught how the child communicates.
Physical accommodations
Children with AADC deficiency are likely to need physical accommodations. For example, walking between classes may be difficult, so classes may need to be arranged to minimize distance or give students additional time to travel between classes. If classes are on multiple floors, an elevator or escalator may be necessary for children who have trouble with stairs.
Patients’ symptoms often get worse later in the day, so they may need a shorter school day or time for a rest or nap during the day.
Diet and nutritional requirements
AADC deficiency can cause weakness in the muscles responsible for eating, chewing, and swallowing. This may make it difficult for patients to eat particular foods or normal portions. If the child has specific nutritional requirements (as determined by a physician or licensed dietitian) these should be discussed with the school or daycare to help determine what accommodations may be necessary. This may mean packing lunches and snacks for the child, and getting permission for the child to eat outside of normal school mealtime hours.
Physical education requirements
Most schools have a physical education requirement. However, children with AADC deficiency may not be physically able to complete the required exercises and games. Parents and caregivers of patients with AADC deficiency should discuss with their child’s physical therapist what exercises are safe for their child to perform. Some children may need to be supervised by a physical therapist during exercise. For these patients, an exemption from the physical education requirement may be necessary.
Parents or caregivers should discuss with the school administration what the physical education requirements are, and with the physical therapist what portions of the requirements can be performed safely. Whatever is decided should be recorded in the child’s IEP.
Medication while at school
Some children with AADC deficiency will need medication that must be administered while at school or daycare. Many children with AADC deficiency have “spells” or “attacks” in which symptoms flare up, causing painful muscle spasms. Breathing may be labored during these spells. School nurses and administrators must be made aware of what treatments are safe to administer, and who to contact in this type of emergency.
The best way to keep the school up to date on the child’s medical needs is to develop a treatment plan with the help of the child’s physician and treatment team. The treatment plan is a document that contains information about the child’s disease, along with a list of symptoms that may occur as a result of the disease. The treatment plan should contain information on what medications and vitamins the child is taking, as well as the dosage and timing of medications. If there are emergency treatments that are needed during spells, this should be outlined in the treatment plan along with information about what steps should be taken after the medication has been administered. If side effects are expected for any medications, these should be listed in the treatment plan so that everyone interacting with the child can be on the lookout for these side effects.
The treatment plan should be reviewed with the child’s physician during every medical appointment, and refiled with the school or daycare after every appointment. It is also a good idea to have regular discussions with the child’s teachers or school carers about how the child is doing in school. Teachers and school carers see the child for many hours during the day and may notice changes in disease symptoms or new symptoms before they are apparent to the parents.
Last updated: Sept. 18, 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 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.