(253) The Burden of AADC Deficiency on Patients, Caregivers, and Healthcare Systems: A Systematic Literature Review

Publication Number: 584

Background: AADC deficiency is a rare autosomal recessive neuro-metabolic disease.

Objectives: The objective of this systematic literature review (SLR) was to review published literature that investigated the disease burden on patients, caregivers, and healthcare systems.

Methods: Searches were performed in Medline, Embase, the Cochrane Library, Trip medical database and CRD databases up to October 2021. Primary research studies published in English, which reported burden of disease for patients, caregivers, and healthcare systems in AADC deficiency were included. Two independent reviewers carried out screening and data extraction.

Results: The search yielded 968 identical records, of which 54 have been included after review. Forty-eight studies reported signs/symptoms of patients with AADC deficiency, one reported impact of disease on patients, three described the impact of disease on caregivers, and two reported the disease impact on healthcare systems.

Patients with AADC deficiency experienced a wide range of signs/symptoms (i.e. developmental delay, movement disorders, autonomic dysfunction, etc.) regardless of motor milestone achieved. These symptoms and limited function had a negative impact on patients’ ability to develop, socialize due to significant impact on activities of daily living and on their emotional wellbeing. This SLR also showed the burden of caring was high across all health states. The abstracts describing the impact on healthcare system also suggested a vast array of medical services and supportive therapies were needed for these patients.

Conclusions: The results highlighted that, regardless of the motor milestone achieved, there is a substantial impact of AADC deficiency on patients and their caregivers, as well as healthcare systems.