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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
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
Kayser–Fleischer rings (greenish brown or golden rings around your eyes)