Table 2.
Overview of interview responses
| Patient ID (age at diagnosis) | Most important current worry | Most important past worry | Most bothersome symptoms | Treatment priority |
|---|---|---|---|---|
| 18*** (7) | Seizures | No therapies available at diagnosis | Cognition | Cognition |
| 2 (10) | Dysphagia, infection, decline in mobility | Dysphagia, infection, decline in mobility | Dysarthria, dysphagia, comprehension difficulty | Dysphagia (cognition is stable) |
| 17*** (10) | Dysphagia and mobility | No therapies available at diagnosis | Seizures, dysphagia, mobility | Motor functions and aspiration |
| 12 (14) | Sleep apnea, seizures, cognition | Seizures | Seizures and loss of physical function | Cognition and physical functioning |
| 19 (14) | Enlarged spleen, vertical gaze spatial palsy; parent: not enjoying child’s milestones | Cognition | Dysarthria, cognition | Cognition |
| 1 (14) | Memory loss | Motor deficits | Cognition and motor deficits | Memory and cognition |
| 3 (22) | Unsure | Unsure | Tripping and falling | Unsure |
| 13 (24) | Cognition | Cognition | Cognition | No tangible way available to measure improvement/decline |
| 16** (25) | Autonomy | Uncertainty about available resources | Cognition | Cognition and motor functions |
| 4 (27) | Motor deficits, dysphagia, autonomy, uncertainty about future | Motor deficits, dysphagia, autonomy | Cognition and social decline | Cognition |
| 10* (28) | Psychiatric and behavioral problems (paranoia, delusional thinking, anger, frustration), dysphagia | Psychiatric problems | Psychiatric problems, cognition | Psychiatric problems, cognition, dysphagia |
| 11a (29) | N/A | Cognition | Social | All symptoms |
| 6 (30) | Autonomy, falling, uncertainty about future | Uncertainty about future | Insomnia, cognition | Cognition |
| 15** (30) | Autonomy | Uncertainty about available resources | Motor deficits | Cognition and motor functions |
| 9* (30) | Cognition, fine motor skills, dysphagia | Memory and balance | Cognition | Cognition |
| 14** (36) | Dysphagia, motor deficits, quality of life | Uncertainty about available resources | Dysphagia | Cognition and motor functions |
| 7 (39) | Autonomy and general physical decline | Ataxia | Gait, ataxia, dysarthria | Ataxia |
| 8 (46) | Hearing loss and cognition | Hearing loss and cognition, enlarged spleen | Hearing loss and cognition | Hearing loss and cognition |
| 5 (59) | Patient: gait and balance; caregiver: motor deficits and dysphagia | Patient: gait and balance; caregiver: dysarthria and gait | Caregiver: dysarthria, lack of concern for safety | Patient: gait and balance; caregiver: dysphagia |
*Sibling set 1, Patients 9 and 10
**Sibling set 2, Patients 14, 15, and 16
***Sibling set 3, Patients 17 and 18
aPatient deceased