While aromatic l-amino acid decarboxylase (AADC) deficiency primarily affects the nervous system, it also can impact several other systems in the body. Thus, your child will need to see a multidisciplinary treatment team in addition to a primary care physician to make sure that he or she receives the best care.
This multidisciplinary team of specialists likely will include a neurologist, therapists, a gastroenterologist, a cardiologist, an orthopedic surgeon, and a behavioral specialist. Your family also may benefit from together seeing a psychiatrist, and you and your partner, or other relatives, may wish to meet with a genetic counselor. Below is some information about what each professional can offer.
AADC deficiency results in a loss of several neurotransmitters, the chemical messengers for nerve cells, which can lead to a number of neurological symptoms. Such symptoms include movement disorders, impairments of the autonomic (unconscious) nervous system, seizures caused by abnormal electrical activity in the brain, and spasms of the eye muscles called oculogyric crises. A neurologist will help diagnose these symptoms and monitor your child’s treatment.
Some patients also experience sleep disturbances, so you may wish to speak to doctors who specialize in sleep medicine. These physicians are often initially trained in general medicine, neurology, or pulmonology before receiving training specialized in sleep. These physicians will be able to determine if your child has sleep apnea or another issue leading to sleep problems.
Children with AADC deficiency often have movement and developmental delays, such as speech and language delays. Occupational therapists, physiotherapists, physiatrists, speech therapists, and feeding and nutritional experts all may be useful to help your child develop and improve his or her skills. Specific types of therapy that have been used in AADC deficiency patients include equine (horse), aquatic, and music therapy.
AADC patients may experience digestive system problems including constipation, diarrhea, gastroesophageal reflux disease, and difficulties with feeding. Researchers think that many of these issues are the result of problems with the autonomic nervous system.
Your child may need to see a gastroenterologist to seek treatment for these difficulties and for specialized procedures, such as the placement of feeding tubes.
Children with AADC deficiency usually don’t have structural issues with their hearts. However, there may be electrical issues that lead to a slow heartbeat or even a heart attack. Heart problems may become worse during stressful situations or during anesthesia, so you should consult with a cardiologist if needed for such situtations.
Impairment of the motor system can lead to a host of orthopedic issues, including problems with posture and contractures, which involve the shortening or tightening of muscles, tendons, or ligaments. You may need to speak to an orthopedic surgeon if your child develops contractures or scoliosis, which is a sideways curvature of the spine.
Children with AADC deficiency also may display behavioral and mood problems. Such problems can include autistic features, irritability, mood swings, excessive crying, and dysphoria, or general feelings of unhappiness or unease with life. A behavioral specialist can help your child learn to better control his or her behavior.
It can be very stressful taking care of a child with AADC deficiency. Indeed, many caregivers experience stress and depression. It is important for you to also take care of yourself so that you are able to assist your child. A family psychiatrist can help you cope with the emotions of living with a child with AADC deficiency.
You may want to speak to a genetic counselor after your child’s diagnosis to learn more about the condition. You also may wish to meet with a genetic counselor before deciding to have other children. Such counselors can guide you through the reproductive options that may be available to you to minimize your risk of having another child with the condition.
Last updated: Dec. 9, 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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