Table 1 Changes based on clinician interviews
From: The patient experience of Wilson disease: a conceptual model based on qualitative research
Signs/symptoms modified | Impacts modified | ||
|---|---|---|---|
Changes to existing symptoms | Changes to existing impacts | ||
Preliminary model | Revised | Preliminary model | Revised |
Gait abnormalities | Changes in walking | Planning difficulties | Difficulty planning |
Salivation | Drooling | Suicide attempts | Intentional self-harm |
Bipolar disorder/mania | Mania | Self-injurious behavior | |
Cognitive impairment | Changes in thinking skills (e.g., feeling slowed down, forgetful) | Catatonic/abnormal movement | Abnormal body movements |
Attention deficit | Changes in attention (e.g., trouble focusing, easily distracted) | Limitations in function/daily activities | Limitations in physical function |
Emotional lability | Frequent “ups and downs” in mood | Increased irritability/anger outburst | Anger outburst |
Increased irritability | Irritability | Sleep disturbances/excessive daytime sleeping | Sleep disturbances |
Apathy | Apathy (e.g., feeling disengaged, feeling like you do not care about anything anymore) | Excessive daytime sleeping | |
Hyperactivity | Hyperactivity (e.g., cannot sit still, restless) | ||
Psychosis | Psychotic episode (e.g., hearing voices that no one else hears, seeing things that are not really there) | ||
Abdominal pain | Stomach pain | ||
Spider veins | Spider veins (i.e., small, damaged veins visible on the surface of the legs or face) | ||
Frailty | Frail (e.g., fragile, physically vulnerable / weak) | ||
Fatigue | Fatigue (e.g., extreme tiredness, low energy levels) | ||
Swelling | Swelling/fluid retention | ||
Slurred speech/speech disturbances | Slurred speech | ||
Other changes in speech (e.g., vocal tremor, stuttering, slow speech) | |||
Parkinsonism | Changes in balance | ||
Changes in facial expression | |||
Dysexecutive syndrome | Difficulty solving problems | ||
Difficulty with decision making | |||
Symptoms removed | Impacts removed |
|---|---|
Hair loss | Catatonia |
Dry skin | Anger outbursts |
Hypertension | Sudden physical collapse following strong emotion |
Dementia | |
Anorexia |
Symptoms added | Impacts added |
|---|---|
Night sweats | Difficulty writing |
Dizziness | Inability to walk/wheelchair bound |
Shortness of breath | Change in work performance |
Anaemia | Change in school performance |
Enlarged/swollen liver | Impact on family life |
Numbness in jaw | Impact on social life |
Vertigo | |
Kayser–Fleischer rings (greenish brown or golden rings around your eyes) |