OBJECTIVES: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, for which healthcare resource utilization (HCRU) information is scarce, but important to understand the overall burden of disease. Therefore, the aim was to generate data on the HCRU for the treatment patterns of patients with AADC deficiency in England.

METHODS: A case-study questionnaire was developed to capture characteristics of individuals with AADC deficiency, disease symptoms and HCRU related to the management of the disease. The questionnaire was completed by clinicians with experience in treating patients with AADC deficiency.

RESULTS: Four clinicians involved in the management of patients with AADC deficiency participated in the interviews providing information on 7 patients (6 male, 1 female; current age range: 2,5 – 31 years). All patients were diagnosed during early childhood, 1 as early as 1 month of age. Symptoms varied between patients, with oculogyric crisis (OGC) and developmental delay being present at diagnosis in 80% of patients. As the disease progressed more patients experienced symptoms such as OGC with a frequency between occasional to daily. All described patients (100%) had a neurologist involved in their management. Other specialists reported being involved in their care were paediatricians (67%), dieticians (67%), gastroenterologists (50%), physiotherapists (50%), speech therapists (50%), cardiologists (50%), (community) psychiatrists (33%), endocrinologists (17%), orthopaedic physicians (17%), and respiratory specialists (17%). Patients used a wide range of treatments (4-14 medications to treat AADC deficiency symptoms) usually initiated at time of symptoms’ onset.

CONCLUSIONS: Patients with AADC deficiency are cared for by several specialists and are treated with a wide range of medications to improve symptoms. This indicates the high medical care needed and HCRU related to the management of patients suffering from this devasting disease.