Management of AADC deficiency

management of aadc

At this time there is no cure for AADC deficiency, but there are treatments that can help improve some of your child's symptoms.1,2 Ask your child's doctor about medications and physical, occupational, and speech therapy, as well as other treatments that can help improve your child's symptoms and quality of life. The team that will be assembled to help your child may include some of the professionals listed here:

  • Pediatrician or general practitioner
  • Pediatric neurologist
  • Movement disorder specialist
  • Clinical geneticist
  • Gastroenterologist
  • Physical therapist
  • Occupational therapist
  • Speech therapist
  • Developmental pediatrician

Depending on where your child is receiving care, you may have a case worker or social worker assigned to help manage your child's care team. Physical and occupational therapy is recommended. Speech therapy has also been effective in some children.

Caregiver support

There are a variety of websites and support groups that can help caregivers like you find information and resources. Here are some that might be right for you:

  • National Organization for Rare Disorders (NORD)
  • Genetic and Rare Disease Information Center (GARD)
  • Rare Disease Clinical Research Network
  • RareConnect
  • Global Genes
  • Child Neurology Foundation (CNF)

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Resources

1. Ng J, Papandreou A, Heales SJ, Kurian MA. Monoamine neurotransmitter disorders—clinical advances and future perspectives. Nat Rev Neurol. 2015;11(10):567-584.

2. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.

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