Jinnah H, Lenderking W, Collins A, Escolar M, Klopstock T, Kruer M, Videnovic A, Robichaux-Viehoever A, Swett L, Revicki D, Bender R, Marshall R. Patient and caregiver experience with pantothenate kinase-associated neurodegeneration. Poster presented at the 2018 International Congress of Parkinson’s Disease and Movement Disorders International Meeting; October 6, 2018. Hong Kong, China. [abstract] Mov Disord. 2018 Dec; 33(suppl 2):484.

OBJECTIVE: To investigate the natural history of pantothenate kinase-associated neurodegeneration (PKAN) and the burden of illness.

BACKGROUND: PKAN is a rare autosomal recessive, progressive neurodegenerative genetic disorder caused by mutations in the PANK2 gene. It is a heterogeneous disease, including mixed motor and cognitive symptoms. Dystonia is the most disabling motor symptom for the majority of patients. Knowledge about PKAN natural history, phenotype, the patient’s pathway to diagnosis and treatment, and the caregiver experience is limited.

METHODS: Caregivers and patients were interviewed by phone during a psychometric evaluation study for the novel PKAN-specific daily functioning outcome measure, the PKAN-Activities of Daily Living (ADL) scale. Patients’ experience, diagnostic and treatment history, health care utilization, disease burden, and caregivers’ experience were examined. Patients with low vs high severity PKAN were compared.

37 caregivers and 2 patients were interviewed. Mean (range) age at symptom onset, 8.4 (0-20) years, was significantly earlier for patients with more severe PKAN (p<0.01). Time since onset of first symptoms was 11.9 (2-33) years with no significant difference between severity groups. The PKAN diagnosis was made approximately 2 years following symptom onset (range 1-26), after consulting a mean of 5 doctors (1-15). Initial MRI led to PKAN diagnosis in 56.4% of patients. Health care utilization was high, with a mean (SD) of 13 (13.1) medical and 55.2 (78.5) therapy visits annually. Most patients had problems with walking (66.7%), speech/being understood (92.3%), and vision (60.2%), with significant differences between severity groups (p<0.01). Most patients (87%) had difficulties in school. The burden of illness was significant; 57% of caregivers had a change in employment status due to caregiving, and 54% of patients required a full-time caregiver, most often the parent. Multiple functional losses, dystonic storm, loss of privacy, and social isolation added to the disease burden.

CONCLUSIONS: PKAN diagnosis is often delayed for years despite the existence of a pathognomonic “eye-of-the-tiger” brain MRI. There is considerable functional impairment in activities of daily living and high health care utilization. Improved understanding of the real-world implications of PKAN for patients and caregivers can guide therapeutic planning and multi-functional medical team management.

Share on: