Becoming Teens and Adults With AADC Deficiency
Children with aromatic l-amino acid decarboxylase (AADC) deficiency can live to be teenagers and adults, a transition that may lead to changes in disease symptoms and their severity. Care given to these patients may need to be adjusted accordingly as they age.
Changes in symptoms with age
An international survey of 63 patients, ages 6 months to 36 years, and their caregivers investigated the symptoms and characteristics of AADC deficiency among different age groups. The study reported slight changes in the severity and frequency of symptoms between groups. However, a majority of patients surveyed (71%) were under age 13. Those who reached adulthood (eight were 18 or older) appeared to have a milder disease form marked by lesser motor impairment, its researchers noted. Symptom differences across age groups, in other words, could be due to changes with aging or those marking milder vs. more severe disease forms.
The survey found a potential trend in changes to sleep disturbances as patients age. Infants with the disease had excessive sleepiness, (hypersomnia), while children ages 2 to 12 were more prone to insomnia.
Irritability was a common symptom for all age ranges. However, patients in the 6–12 age group appeared to be the most affected, with 85% of caregivers for these children reporting irritability. While still present in adults, irritability appeared to be less severe.
Oculogyric crises affected 98% of all these patients at some point. There seemed to be a possible trend in the data showing oculogyric crises of shorter duration and lesser frequency in adults relative to younger patients. Again, it was not clear whether this was an actual change in symptoms as patients age, the milder disease form of older patients surveyed, or a combination of both factors.
All survey patients reported excessive sweating. This was a major symptom (being frequent and/or severe) in 40% of children up to age 17. It was still a symptom for adults, but one no longer considered major.
Transitions in care
As AADC deficiency patients age, the form of their care may need to change. The survey found that 71% of its 38 patients age 5 or older were completely dependent on their caregivers. Because of this, a move to specialized adult care centers may be necessary as patients, and their parents or caregivers, age. These transitions can be difficult for patients and their families, and should be planned well in advance.
While specialized care is crucial for people with AADC deficiency, some patients can retain a degree of independence. In this survey, 18 of the 29 people ages 5 to 18 (62%) were attending school. Two of the survey’s eight adults (25%) were working.
Since AADC deficiency is very rare and can affect multiple systems, patients should continue to receive multidisciplinary care as they age to ensure proper treatment and monitoring.
Last updated: Jan. 7, 2021
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