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PMM2-CDG Quality of Life Survey
for Patients and Caregivers

Before starting the survey, read the following information and instructions carefully


Why PMM2-CDG?

1) PMM2-CDG is characterized by a huge array of symptoms, often affecting multiple body
systems, influencing PMM2-CDG patients' quality of life (QoL).
2) There are no specific tool to measure QoL in any CDG type.
3) PMM2-CDG is the most frequent CDG type and, thus it can be used as a pilot.

AIM: This short survey aims to identify the clinical manifestations and factors that most affect
PMM2-CDG patients' QoL.

Why You and how can you help?
Because patients/families are THE EXPERTS! You're part of this community and, therefore, you represent
the voice of the patients. Therefore, please answer this anonymous survey sincerely, according to your experience and to the best of your knowledge.

Time commitment: The questionnaire has 4 QUESTIONS and takes a maximum of 10 to 15 minutes to complete.

ATTENTION: Each of the 4 questions refers to a specific age range, which corresponds to a
different phase of development (infancy, childhood, adolescence and adulthood)

If you have any doubts, please contact the research team:
Carlota Pascoal | E-mail: cm.pascoal@campus.fct.unl.pt
1.In PMM2-CDG patients aged between 0 MONTHS TO 3 YEARS-OLD (infancy), rate the impact of the following clinical manifestations on the patient's quality of life?
You MUST select ONLY 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/cannot answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy (peripheral nerve impairment, causing weakness, numbness, and lack of feeling)
Ataxia (lack of voluntary coordination of muscle and eye movements, as well as speech difficulties)
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion (accumulation of liquid around the heart)
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia (trouble swallowing)
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia (low bone density)
Kyphosis/Scoliosis (abnormal curvature of the spine)
Joint contractures
Hypotonia (low muscle tone)
Developmental delay
Dysarthria (slurred or slow speech)/speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia (low blood sugar caused by excessive insulin)
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
2.In PMM2-CDG patients aged between 4 TO 10 YEARS-OLD (childhood), rate the impact of the following clinical manifestations on the patient's quality of life? You MUST select ONLY 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/cannot answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy (peripheral nerve impairment, causing weakness, numbness, and lack of feeling)
Ataxia (lack of voluntary coordination of muscle and eye movements, as well as speech difficulties)
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion (accumulation of liquid around the heart)
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia (trouble swallowing)
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia (low bone density)
Kyphosis/Scoliosis (abnormal curvature of the spine)
Joint contractures
Hypotonia (low muscle tone)
Developmental delay
Dysarthria (slurred or slow speech)/speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia (low blood sugar caused by excessive insulin)
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
3.In PMM2-CDG patients aged between 11 TO 18 YEARS-OLD (adolescence), rate the impact of the following clinical manifestations on the patient's quality of life? You MUST select ONLY 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/cannot answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy (peripheral nerve impairment, causing weakness, numbness, and lack of feeling)
Ataxia (lack of voluntary coordination of muscle and eye movements, as well as speech difficulties)
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion (accumulation of liquid around the heart)
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia (trouble swallowing)
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia (low bone density)
Kyphosis/Scoliosis (abnormal curvature of the spine)
Joint contractures
Hypotonia (low muscle tone)
Developmental delay
Dysarthria (slurred or slow speech)/speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia (low blood sugar caused by excessive insulin)
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
4.In PMM2-CDG patients aged from 18 YEARS-OLD onwards (adulthood), rate the impact of the following clinical manifestations on the patient's quality of life? You MUST select ONLY 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/cannot answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy (peripheral nerve impairment, causing weakness, numbness, and lack of feeling)
Ataxia (lack of voluntary coordination of muscle and eye movements, as well as speech difficulties)
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion (accumulation of liquid around the heart)
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia (trouble swallowing)
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia (low bone density)
Kyphosis/Scoliosis (abnormal curvature of the spine)
Joint contractures
Hypotonia (low muscle tone)
Developmental delay
Dysarthria (slurred or slow speech)/speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia (low blood sugar caused by excessive insulin)
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
Thank you for investing your time and help in driving CDG research!
Current Progress,
0 of 4 answered