Introduction
Methods
Study measures
Sociodemographic questionnaires
PKAN-specific medical history form
PKAN-ADL
Other study measures
Data analysis
Qualitative data analysis
Results
Sociodemographic characteristics of patients and caregivers
Characteristic | Caregivers (N = 37) | All patients (N = 39) | Lowest (n = 9) | Second Lowest (n = 10) | Third Lowest (n = 10) | Highest (n = 10) | P-valuea |
---|---|---|---|---|---|---|---|
Age, y | n = 35/37 | n = 38/39 | n = 9/10 | 0.0739 | |||
Mean (SD) | 46.8 (12.5) | 20.2 (8.4) | 24.7 (5.8) | 19.1 (7.1) | 22.5 (11.0) | 15.4 (6.9) | |
Median | 45.8 | 19.1 | 22.8 | 19.1 | 23.1 | 14.2 | |
Range (min, max) | (24.1–67.6) | (6.4–42.6) | (17.0–33.2) | (6.4–30.0) | (7.9–42.6) | (7.0–29.8) | |
Gender, n (%) | 0.4626 | ||||||
Male | 11 (29.7%) | 24 (61.5%) | 4 (44.4%) | 8 (80.0%) | 6 (60.0%) | 6 (60.0%) | |
Female | 26 (70.3%) | 15 (38.5%) | 5 (55.6%) | 2 (20.0%) | 4 (40.0%) | 4 (40.0%) | |
With whom patient lives, n (%) | |||||||
Parents/Siblings | NA | 33 (84.6%) | 8 (88.9%) | 9 (90.0%) | 6 (60.0%) | 10 (100%) | 0.0222 |
Spouse/Partner | NA | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Other family member | NA | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Alone | NA | 2 (5.1%) | 1 (11.1%) | 1 (10.0%) | 0 (0.0%) | 0 (0.0%) | |
Other | NA | 4 (10.3%) | 0 (0.0%) | 0 (0.0%) | 4 (40.0%) | 0 (0.0%) | |
Relationship to the patient, n (%) | |||||||
Parent | 33 (89.2%) | NA | |||||
Grandparent | 0 (0.0%) | NA | |||||
Other relative | 1 (2.7%) | NA | |||||
Professional caregiver | 1 (2.7%) | NA | |||||
Other | 2 (5.4%) | NA | |||||
Caregiver lives with patient, n (%) | |||||||
Yes | 31 (83.8%) | NA | |||||
No | 6 (16.2%) | NA | |||||
Numbers of hours per week spent with patient | n = 6/37 | ||||||
Mean (SD) | 16.0 (16.7) | NA | |||||
Median | 11.0 | NA | |||||
Range (min, max) | (1.0–36.0) | NA | |||||
Ethnic background, n (%) | 0.4810 | ||||||
Hispanic or Latino | 4 (10.8%) | 6 (15.4%) | 2 (22.2%) | 2 (20.0%) | 0 (0.0%) | 2 (20.0%) | |
Not Hispanic or Latino | 33 (89.2%) | 33 (84.6%) | 7 (77.8%) | 8 (80.0%) | 10 (100%) | 8 (80.0%) | |
Racial background, n (%) | n = 38/39 | n = 9/10 | 0.5207 | ||||
White | 33 (89.2%) | 35 (89.7%) | 8 (88.9%) | 9 (90.0%) | 9 (90.0%) | 9 (90.0%) | |
Black or African American | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Asian | 3 (8.1%) | 2 (5.1%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | 1 (10.0%) | |
Native Hawaiian or other Pacific Islander | 1 (2.7%) | 1 (2.6%) | 1 (11.1%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Employment status, n (%) | 0.4198 | ||||||
Employed, full-time or part-time | 28 (75.7%) | 4 (10.3%) | 3 (33.3%) | 1 (10.0%) | 0 (0.0%) | 0 (0.0%) | |
Homemaker | 4 (10.8%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Student | 0 (0.0%) | 19 (48.7%) | 2 (22.2%) | 6 (60.0%) | 4 (40.0%) | 7 (70.0%) | |
Unemployed | 0 (0.0%) | 4 (10.3%) | 1 (11.1%) | 0 (0.0%) | 2 (20.0%) | 1 (10.0%) | |
Retired | 4 (10.8%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Disabled | 1 (2.7%) | 12 (30.8%) | 3 (33.3%) | 3 (30.0%) | 4 (40.0%) | 2 (20.0%) | |
Highest educational level, n (%)b | 0.1213 | ||||||
Elementary/primary school | 0 (0.0%) | 14 (35.9%) | 0 (0.0%) | 3 (30.0%) | 5 (50.0%) | 6 (60.0%) | |
Secondary/high school | 7 (18.9%) | 13 (33.3%) | 2 (22.2%) | 5 (50.0%) | 3 (30.0%) | 3 (30.0%) | |
Some college | 9 (24.3%) | 9 (23.1%) | 5 (55.6%) | 2 (20.0%) | 1 (10.0%) | 1 (10.0%) | |
College degree | 7 (18.9%) | 2 (5.1%) | 1 (11.1%) | 0 (0.0%) | 1 (10.0%) | 0 (0.0%) | |
Some graduate school | 4 (10.8%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Postgraduate degree | 7 (18.9%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Technical or vocational degree | 3 (8.1%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Other | 0 (0.0%) | 1 (2.6%) | 1 (11.1%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | |
Educational achievement limited by PKAN, n (%) | n = 38/39 | n = 9/10 | 0.1871 | ||||
Yes | NA | 30 (76.9%) | 5 (55.6%) | 8 (80.0%) | 7 (70.0%) | 10 (100%) | |
No | NA | 8 (20.5%) | 4 (44.4%) | 2 (20.0%) | 2 (20.0%) | 0 (0.0%) | |
Change in employment status due to caregiving, n (%)c | 0.0128 | ||||||
Yes | 21 (56.8%) | NA | 5 (71.4%) | 9 (90.0%) | 2 (20.0%) | 5 (50.0%) | |
No | 16 (43.2%) | NA | 2 (28.6%) | 1 (10.0%) | 8 (80.0%) | 5 (50.0%) |
PKAN clinical history and pathway to diagnosis
Presenting symptoms of PKAN
Characteristic | All patients (N = 39) | Lowest (n = 9) | Second Lowest (n = 10) | Third Lowest (n = 10) | Highest (n = 10) | P-valuea |
---|---|---|---|---|---|---|
Presenting symptoms of PKAN, n (%)b | ||||||
Walking difficulty | 27 (69.2%) | 3 (33.3%) | 6 (60.0%) | 8 (80.0%) | 10 (100%) | 0.0127 |
Speech | 12 (30.8%) | 1 (11.1%) | 5 (50.0%) | 2 (20.0%) | 4 (40.0%) | 0.2296 |
Swallowing | 2 (5.1%) | 1 (11.1%) | 1 (10.0%) | 0 (0.0%) | 0 (0.0%) | 0.5259 |
Writing | 9 (23.1%) | 4 (44.4%) | 3 (30.0%) | 0 (0.0%) | 2 (20.0%) | 0.1306 |
Emotional/behavioral problems | 6 (15.4%) | 3 (33.3%) | 1 (10.0%) | 1 (10.0%) | 1 (10.0%) | 0.4080 |
Other problems | 19 (48.7%) | 4 (44.4%) | 6 (60.0%) | 6 (60.0%) | 3 (30.0%) | 0.4776 |
Dystonia at PKAN presentation, n (%)b | 6 (15.4%) | 2 (22.2%) | 2 (20.0%) | 1 (10.0%) | 1 (10.0%) | 0.8176 |
Dystonia: mouth/tongue | 4 (10.3%) | 2 (22.2%) | 1 (10.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: neck | 1 (2.6%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: hand | 6 (15.4%) | 2 (22.2%) | 2 (20.0%) | 1 (10.0%) | 1 (10.0%) | |
Dystonia: foot | 2 (5.1%) | 1 (11.1%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: back/trunk | 3 (7.7%) | 1 (11.1%) | 1 (10.0%) | 0 (0.0%) | 1 (10.0%) | |
Dystonia: other | 2 (5.1%) | 1 (11.1%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Age at onset, y | n = 38/39 | n = 9/10 | 0.0007 | |||
Mean (SD) | 8.0 (5.8) | 12.7 (4.3) | 9.4 (5.5) | 7.3 (5.2) | 2.9 (3.8) | |
Median | 7.0 | 14.0 | 10.0 | 7.0 | 1.0 | |
Range (min, max) | (< 1.0–20.0) | (7.0–20.0) | (1.0–18.0) | (1.0–16.0) | (< 1.0–12.0) | |
Problem leading to first doctor visit, n (%) | n = 36/39 | n = 8/9 | n = 9/10 | n = 9/10 | ||
Same as “first symptom” | 22 (56.4%) | 5 (55.6%) | 5 (50.0%) | 7 (70.0%) | 5 (50.0%) | |
Other | 14 (35.9%) | 3 (33.3%) | 4 (40.0%) | 2 (20.0%) | 5 (50.0%) | |
MRI, n (%) | 0.3953 | |||||
Yes | 38 (97.4%) | 9 (100%) | 10 (100%) | 10 (100%) | 9 (90.0%) | |
No | 1 (2.6%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) | 1 (10.0%) | |
Age at first MRI, y | n = 36/38 | n = 8/9 | n = 9/10 | 0.0150 | ||
Mean (SD) | 10.4 (6.7) | 15.0 (6.9) | 11.5 (5.0) | 10.8 (7.8) | 5.4 (3.8) | |
Median | 10.0 | 16.0 | 10.0 | 10.0 | 4.5 | |
Range (min, max) | (1.0–26.0) | (5.0–25.0) | (5.0–23.0) | (1.0–26.0) | (1.0–12.0) | |
Did first MRI diagnose PKAN? | n = 38/39 | n = 9/10 | 0.1005 | |||
Yes | 22 (56.4%) | 5 (55.6%) | 9 (90.0%) | 5 (50.0%) | 3 (30.0%) | |
No | 16 (41.0%) | 4 (44.4%) | 1 (10.0%) | 4 (40.0%) | 7 (70.0%) | |
Genetic testing obtained | 0.5259 | |||||
Yes | 37 (94.9%) | 8 (88.9%) | 9 (90.0%) | 10 (100%) | 10 (100%) | |
No | 2 (5.1%) | 1 (11.1%) | 1 (10.0%) | 0 (0.0%) | 0 (0.0%) | |
Age genetic testing led to PKAN diagnosis | n = 36/39 | n = 8/9 | n = 9/10 | n = 9/10 | 0.0116 | |
Mean (SD) | 12.1 (6.9) | 17.4 (4.3) | 11.9 (5.1) | 13.2 (9.7) | 7.2 (3.0) | |
Median | 10.5 | 16.0 | 10.0 | 13.0 | 7.0 | |
Range (min, max) | (4.0–36.0) | (12.0–26.0) | (5.0–23.0) | (4.0–36.0) | (4.0–12.0) | |
Age MRI diagnosed PKAN if MRI diagnosis | n = 1/22 | n = 1/5 | n = 0/9 | n = 0/5 | n = 0/3 | |
Mean (SD) | 11.0 | 11.0 | ||||
Median | 11.0 | 11.0 | ||||
Range (min, max) | (11.0–11.0) | (11.0–11.0) | ||||
Number of doctors seen prior to PKAN diagnosis | 0.4213 | |||||
Mean (SD) | 4.6 (3.5) | 5.2 (4.7) | 3.1 (3.2) | 4.5 (2.5) | 5.6 (3.6) | |
Median | 4.0 | 3.0 | 2.0 | 4.0 | 5.5 | |
Range (min, max) | (1.0–15.0) | (1.0–15.0) | (1.0–10.0) | (1.0–10.0) | (1.0–12.0) | |
Location of doctors consulted, n (%)b | ||||||
Community | 16 (41.0%) | 5 (55.6%) | 3 (30.0%) | 6 (60.0%) | 2 (20.0%) | |
Specialist center doctors | 37 (94.9%) | 7 (77.8%) | 10 (100%) | 10 (100%) | 10 (100%) |
Age at onset
First MRI and PKAN diagnosis
Genetic testing and PKAN diagnosis
Physician visits to obtain diagnosis
Healthcare utilization
Medical care
All patients N = 39 | Lowest n = 9 | Second Lowest n = 10 | Third Lowest n = 10 | Highest n = 10 | P-value | |
---|---|---|---|---|---|---|
PKAN treatments received | ||||||
Medication from doctor, n (%) | 39 (100%) | 9 (100%) | 10 (100%) | 10 (100%) | 10 (100%) | |
Vitamins or OTC, n (%) | 35 (89.7%) | 8 (88.9%) | 7 (70.0%) | 10 (100%) | 10 (100%) | 0.0886 |
Injections (botulinum toxin, etc), n (%) | 25 (64.1%) | 4 (44.4%) | 7 (70.0%) | 5 (50.0%) | 9 (90.0%) | 0.1422 |
Therapies (physical, speech, occupational, etc), n (%) | 36 (92.3%) | 7 (77.8%) | 10 (100%) | 9 (90.0%) | 10 (100%) | 0.2198 |
Surgery, n (%) | 16 (41.0%) | 2 (22.2%) | 2 (20.0%) | 3 (30.0%) | 9 (90.0%) | 0.0036 |
DBS device | 9 (23.1%) | 2 (22.2%) | 2 (20.0%) | 2 (20.0%) | 3 (30.0%) | 0.9443 |
Other surgery | 14 (35.9%) | 2 (22.2%) | 1 (10.0%) | 2 (20.0%) | 9 (90.0%) | 0.0006 |
Other treatment, n (%)a | 14 (35.9%) | 1 (11.1%) | 5 (50.0%) | 4 (40.0%) | 4 (40.0%) | 0.3322 |
PKAN healthcare utilization past year | ||||||
Medical visits | 0.3446 | |||||
Mean (SD) | 13.0 (13.1) | 12.2 (16.8) | 7.6 (5.3) | 13.9 (15.6) | 18.3 (11.9) | |
Median | 8.0 | 6.0 | 5.0 | 7.0 | 15.0 | |
Range (min, max) | (1.0–56.0) | (2.0–56.0) | (1.0–15.0) | (3.0–50.0) | (1.0–40.0) | |
Therapy visits | n = 38/39 | n = 9/10 | 0.2188 | |||
Mean (SD) | 55.2 (78.5) | 23.1 (50.2) | 33.7 (32.1) | 85.1 (126.5) | 78.7 (69.1) | |
Median | 22.5 | 6.0 | 26.5 | 20.0 | 46.0 | |
Range (min, max) | (0.0–384.0) | (0.0–156.0) | (0.0–100.0) | (0.0–384.0) | (1.0–208.0) | |
Caregiving required | ||||||
Part-time caregiver, n (%) | 25 (64.1%) | 3 (33.3%) | 6 (60.0%) | 8 (80.0%) | 8 (80.0%) | 0.1656 |
Age at onset, y | n = 23/25 | n = 1/3 | ||||
Mean (SD) | 11.5 (7.6) | 12.0 (NA) | 17.7 (8.0) | 10.8 (7.9) | 7.6 (4.8) | 0.0975 |
Median | 11.0 | 12.0 | 19.0 | 11.0 | 7.0 | |
Range (min, max) | (< 1.0–28.0) | (12.0–12.0) | (6.0–28.0) | (< 1.0–20.0) | (< 1.0–14.0) | |
Full-time caregiver, n (%) | 21 (53.8%) | 1 (11.1%) | 3 (30.0%) | 7 (70.0%) | 10 (100%) | 0.0021 |
Age at onset, y | n = 20/21 | n = 2/3 | ||||
Mean (SD) | 10.3 (6.6) | 19.0 (NA) | 16.5 (9.2) | 9.7 (7.3) | 8.5 (5.1) | 0.2379 |
Median | 10.0 | 19.0 | 16.5 | 12.0 | 8.5 | |
Range (min, max) | (< 1.0–23.0) | (19.0–19.0) | (10.0–23.0) | (< 1.0–20.0) | (< 1.0–17.0) |