Loading…

Protocol - Disease Progression and Regression - 2-11 Years

Add to Toolkit

Protocol Name from Source:

This section will be completed when reviewed by an Expert Review Panel.

Availability:

Publicly available

Description:

The Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) and the Newcastle Mitochondrial Disease Adult Scale (NMDAS) can be used to evaluate the progression of mitochondrial disease. There are three versions of the NPMDS, each for a specific age range (0-24 months, 2-11 years, and 12-18 years). The NMDAS is for adult patients over 16 years.

The aim of the scales is to allow for standardization of patient assessment and to improve accurate data collection. The scales are composed of multiple domains: Current Function, System Specific Involvement, Current Clinical Assessment, and Quality of Life. Almost all questions provide a score which ranges from 0-3, with the following representations: 0 is normal, 1 is mild, 2 moderate, and 3 severe. Examples of each severity for each question are provided. Depending on the domain, the questions are either self-administrated or based on a provider’s clinical assessment. There is a manual for each scale, which details the administration, process, and scoring instructions.

Protocol:

The Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)

2-11 years

Date of assessment:

Age at assessment:

Parental consanguinity:

Age at presentation:

Age at clinical diagnosis:

Clinical diagnosis:

Genotype if known:

Biochemical phenotype if known:

Basis of clinical diagnosis e.g. MRI, blood / CSF lactate

Information regarding pregnancy

• reduced fetal movements _______

• cardiomyopathy on antenatal scans _______

• abnormalities on fetal anomaly scan _______

• other:

Neonatal information:

• gestational age _______

• delivery method (NVD vs instrumental vs C/S) _______

• birth weight _______

• resuscitation and ventilation _______

Scores: Sections I-III:

Section IV:

Section I: Current Function

Rate function during the preceding 4 week period only according to patient and / or caregiver interview. Indicate the score that best fits patient’s functional status independently of the nature of the signs.

1. Vision (with usual glasses)

  1. Normal. No parental / patient concerns
  2. Mild. Inattention to small objects in visual field or parent concerned about abnormality of visual behavior
  3. Moderate. Visual impairment not fully corrected with glasses or inattention to large objects in visual field
  4. Severe. Not recognising faces or registered blind or using additional visual aids

2. Hearing

  1. Normal
  2. Mild. Requires regular repetition / raised voice or not reacting to loud sounds
  3. Moderate. Hearing impaired but fully corrected with hearing aid
  4. Severe. Poor hearing even with aid

3. Communication (assessed with appropriate regard for age)

  1. Normal. Age appropriate communication
  2. Mild. Verbal communication impaired. Supplemented by alternative methods (e.g. signing, pointing)
  3. Moderate. Not communicating effectively with strangers (irrespective of methods)
  4. Severe. Not communicating effectively with parents (irrespective of methods)

4. Feeding

  1. Normal
  2. Mild. Choking / vomiting / anorexia resulting in reduced intake or adaptation of age appropriate diet
  3. Moderate. Supplementary enteral feeding or recurrent aspiration pneumonia
  4. Severe. Exclusive enteral feeding (gastrostomy / NG tube). Nil by mouth

5. Self-care (personal hygiene, dressing, utensil use e.g. for feeding)

  1. Normal. No concerns. Age appropriately reliant on carers / parents
  2. Mild. Requires help with some age appropriate tasks
  3. Moderate. Requires help with all age appropriate tasks
  4. Severe. Reliant on parents with no contribution to self care

6. Mobility

  1. Normal. No concerns. Age appropriate mobility
  2. Mild. Difficulty walking up stairs or inclines
  3. Moderate. Requires support (stick / frame / callipers) to walk on the flat
  4. Severe. Wheelchair / carrier dependent

7. Educational achievement

  1. Normal. Academic achievement comparable to peers in mainstream school /nursery
  2. Mild. Struggling to remain in mainstream school / nursery
  3. Moderate. Attending special school / nursery
  4. Severe. Not attending school / nursery primarily due to illness

Section II: System Specific Involvement

Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. Scores should be assigned according to patient and / or caregiver interview, clinician’s knowledge of the patient and clinical notes.

1. Seizures

  1. None
  2. Mild. Myoclonic or absence seizures only or < 1 generalised tonic-clonic seizure/month
  3. Moderate. > 5 generalized tonic-clonic seizures/month or > 20 absence or myoclonic seizures/month
  4. Severe. Status epilepticus

2. Encephalopathy

  1. None
  2. Mild. Single episode of personality change, excessive sleepiness, confusion or disorientation
  3. Moderate. Obtunded or >2 encephalopathic episodes/year
  4. Severe. Life-threatening encephalopathy- requires artificial ventilation

3. Stroke-like Episodes

  1. None
  2. Mild. Transient motor symptoms lasting < 24 hours
  3. Moderate. Single stroke-like episode (> 24 hours)
  4. Severe. Multiple stroke-like episodes (> 24 hours each)

4. Gastrointestinal

  1. Normal
  2. Mild. Mild constipation or unexplained vomiting / diarrhoea < 1/week
  3. Moderate. Moderate constipation (some relief with laxative treatment) or unexplained vomiting / diarrhoea > 3/week
  4. Severe. Severe constipation (no relief with laxative treatment) or unexplained vomiting / diarrhoea every day or surgical intervention for dysmotility

5. Endocrine

  1. Normal
  2. Mild. Biochemical evidence of impaired function
  3. Moderate. Endocrine failure requiring replacement therapy
  4. Severe. Decompensation (e.g. diabetic ketoacidosis, Addinsonian crisis)

6. Respiratory

  1. Normal
  2. Mild. Abnormal respiration not requiring hospitalization
  3. Moderate. Abnormal respiration requiring hospitalisation but not ventilation
  4. Severe. Abnormal respiration requiring artificial ventilation

7. Cardiovascular- over preceding 12 months

  1. Normal
  2. Mild. Asymptomatic ECG change
  3. Moderate. Abnormal echocardiogram (e.g. cardiomegaly) or sustained / symptomatic arrhythmia on ECG
  4. Severe. Decompensated cardiomyopathy or requiring pacing device / defibrillator / ablation

8. Renal

  1. Normal
  2. Mild. Impaired function but no change in diet or therapy required
  3. Moderate. Impaired function requiring restricted protein diet
  4. Severe. Failure requiring transplant / dialysis

9. Liver

  1. Normal
  2. Mild. Mildly impaired Liver Function Tests (LFTs). No symptoms of hepatic Failure
  3. Moderate. Impaired LFTs with symptoms (e.g. jaundice, oedema)
  4. Severe. Failure requiring hospitalisation and / or transplantation

10. Blood

  1. Normal
  2. Mild. Anaemia only
  3. Moderate. Asymptomatic pancytopenia
  4. Severe. Pancytopenia requiring regular transfusion / transplantation

Section III: Current Clinical Assessment

Rate current status according to the clinician’s examination at the time of assessment unless otherwise stated in the question.

1. Growth (ht and weight) over preceding 6 months

  1. Normal. Following normal growth trajectory
  2. Mild. Height or weight or both less than 2nd centile but growing parallel to it
  3. Moderate. Height or weight or both crossing one centile
  4. Severe. Height or weight or both crossing ≥ 2 centiles or less than 2nd centile with divergent trajectory

2. Development over preceding 6 months Score: ____

[img[disease_progression_and_regression.png|]]

3. Vision with usual glasses. Acuity is based on vision in the better eye

  1. Normal. Visual acuity better than or equal to 6/12 or normal fixation and Tracking
  2. Mild. Acuity worse than 6/12 but better than or equal to 6/18 or no fixation on small objects
  3. Moderate. Acuity worse than 6/18 but better than or equal to 6/60 or impaired fixation on large, brightly coloured objects
  4. Severe. Acuity worse than 6/60 or no response to light or visual threat or unable to finger count

4. Ptosis and Eye Movement

  1. Normal
  2. Mild. Gaze evoked nystagmus or unilateral ptosis or impaired eye movement at extremities
  3. Moderate. Intermittent nystagmus at rest or bilateral ptosis not obscuring pupils or restriction of >50% eye movement
  4. Severe. Continuous nystagmus at rest or bilateral ptosis obscuring pupils oronly a flicker of eye movement

5. Myopathy

  1. Normal
  2. Mild. Mild symmetrical weakness of hip and / or shoulder girdle only
  3. Moderate. Moderate symmetrical weakness (proximal>distal) limiting mobility
  4. Severe. Wheelchair / carrier dependent or respiratory compromise due to Myopathy

6. Ataxia

  1. Normal
  2. Mild. Ataxic gait but walks unaided or mild upper limb dysmetria
  3. Moderate. Gait abnormality requiring assistance or severe upper limb Dysmetria
  4. Severe. Wheelchair dependent or unable to feed due to ataxia

7. Pyramidal

  1. Normal
  2. Mild. Mild hemiplegia allowing unaided ambulation
  3. Moderate. Moderate hemiplegia allowing ambulation with aids
  4. Severe. Wheelchair dependent due to hemi / tetraplegia

8. Extrapyramidal

  1. Normal
  2. Mild. Focal dystonia or unilateral extrapyramidal tremor / bradykinesia
  3. Moderate. Generalised dystonia or bilateral extrapyramidal tremor / Bradykinesia
  4. Severe. Wheelchair dependent due to extrapyramidal disorder

9. Neuropathy

  1. Normal.
  2. Mild. Areflexia only
  3. Moderate. Sensory ataxia or motor impairment (distal weakness) but mobile
  4. Severe. Reliant on mobility aids primarily due to neuropathy

Section IV: Quality of Life- Parent Completed

This survey asks for your views about your child’s recent health. Please answer every question by marking an ‘x’ in the box next to the phrase which best describes your answer.

1) During the past 4 weeks, how would you rate your child’s overall health?

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

2) During the past 4 weeks, how much did your child’s physical health problems limit

their physical activities (such as walking or playing with friends)?

[ ] Very much

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

3) During the past 4 weeks, how much did your child’s health problems limit their

everyday life (such as attending school, caring for themselves) compared with a

person of the same age in perfect health?

[ ] Very much

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

4) During the past 4 weeks, how much energy did your child have?

[ ] None

[ ] A little

[ ] Some

[ ] Quite a lot

[ ] Very much

5) During the past 4 weeks, how much bodily pain/discomfort did your child have?

[ ] Very much

[ ] Quite a lot

[ ] Some

[ ] A little

[ ] None

6) During the past 4 weeks, how much was your child bothered by emotional

problems?

[ ] Very much

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

7) During the past 4 weeks, how satisfied did your child feel with their abilities, looks,

relationships with other people and life in general?

[ ] Very dissatisfied

[ ] Quite dissatisfied

[ ] Neither dissatisfied or satisfied 􀀀

[ ] Quite satisfied

[ ] Very satisfied

8) During the past 4 weeks, how would you rate your child’s behaviour compared with other children his / her age?

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

9) During the past 4 weeks, how would you rate your child’s ability to interact with other people (e.g. making friends, talking to other children / strangers) compared with other children his / her age?

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

10) During the past 4 weeks, how much were you (the parent / carer) bothered by emotional problems (e.g. feelings of anxiety, sadness) as a result of your child’s illness?

[ ] Very

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

11) During the past 4 weeks, how much was your time limited as a result of your child’s illness?

[ ] Very

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

12) During the past 4 weeks, how much were your family’s activities limited or

interrupted as a result of your child’s illness?

[ ] Very

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

13) During the past 6 months, what has been the financial cost of your child’s illness?

[ ] Very expensive

[ ] Quite expensive

[ ] Moderately expensive

[ ] Little additional cost

[ ] No additional cost

14) During the past 4 weeks, how would you rate your family’s ability to get along with one another?

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

15) During the past 4 weeks, how often did your child’s illness have a positive effect on your child, you or your family (e.g. being treated well due to illness, meeting new people)?

[ ] Never

[ ] Occasionally

[ ] Sometimes

[ ] Quite a lot

[ ] Most of the time

Section IV: Quality of Life- Self Completed

7-11 years

This survey asks about how you have been feeling recently. Please answer every

question by marking an ‘x’ in the box next to the phrase which best describes your

answer.

1) During the past 4 weeks, how would you rate your overall health?

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

2) During the past 4 weeks, how much did your physical health problems limit your

physical activities (such as walking or playing with friends)?

[ ] Very much

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

3) During the past 4 weeks, how much did your health problems limit your everyday

life (such as going to school, caring for yourself) compared with a person of your age

in perfect health?

[ ] Very much

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

4) During the past 4 weeks, how much energy did you have?

[ ] None

[ ] A little

[ ] Some

[ ] Quite a lot

[ ] Very much

5) During the past 4 weeks, how much pain or discomfort did you have?

[ ] Very much

[ ] Quite a lot

[ ] Some

[ ] A little

[ ] None

6) During the past 4 weeks, how much were you bothered by emotional problems (such as feeling sad or frightened)?

[ ] Very much

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

7) During the past 4 weeks, how satisfied did you feel with your abilities, looks,

relationships with other people and life in general?

[ ] Very dissatisfied

[ ] Quite dissatisfied

[ ] Nether satisfied or dissatisfied

[ ] Quite satisfied

[ ] Very satisfied

8) During the past 4 weeks, how would you rate your behaviour compared with other

children your age?

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

9) During the past 4 weeks, how easy did you find it to get on with other people (e.g.

making friends, talking to other children / strangers) compared with other children

your age?

[ ] Very hard

[ ] Hard

[ ] OK

[ ] Easy

[ ] Very easy

10) During the past 4 weeks, how would you rate your family’s ability to get along

with one another?

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

11) During the past 4 weeks, how often did your illness have a positive effect on you

or your family (e.g. being treated well because of your illness, meeting new people)?

[ ] Never

[ ] Occasionally

[ ] Sometimes

[ ] Quite a lot

[ ] Most of the time

Personnel and Training Required

The Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) and the Newcastle Mitochondrial Disease Adult Scale (NMDAS) should be administered by clinicians, preferably with experience in caring for patients with mitochondrial disease.

Equipment Needs

None.

Requirements

Requirement CategoryRequired
Average time of greater than 15 minutes in an unaffected individualYes
Major equipmentNo
Specialized requirements for biospecimen collectionNo
Specialized trainingYes

Mode of Administration

Self-administered

Life Stage:

Toddler, Child

Specific Instructions:

To maximize consistency, the authors of the scale state that it is essential that clinicians adhere to the scale instructions. They also advise that the scales be administrated by clinicians with experience in the care of patients with mitochondrial disease and that the scale is given every 6 months for children under 2 years of age and at 6- to 12-month intervals for older children and adults.

Research Domain Information

Release Date:

April 30, 2015

Definition

This measure determines the impact of disease on an individual over time.

Purpose

This measure is used to assess the presence and degree of symptoms over time. Rare genetic diseases, such as mitochondrial disorders and mucopolysaccharidosis (MPS), can be associated with symptoms that become more severe over time and may result in a regression of some physical abilities. This measure can be used to quantify such changes to determine the natural course of disease(s) as well as contribute to longitudinal or therapeutic intervention studies.

Selection Rationale

The Rare Genetic Conditions Working Group (WG) selected the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) and the Newcastle Mitochondrial Disease Adult Scale (NMDAS) because mitochondrial disorders have a wide array of symptoms, making this measure potentially extensible to other progressive disorders. In addition, rare genetic disorders can be associated with secondary mitochondrial dysfunction and overlapping symptoms. Although these scales were developed for mitochondrial diseases, the WG acknowledges data from these scales can be beneficial for other rare genetic conditions, such as inborn errors of metabolism, storage disorders, and nonmitochondrial myopathies.

Language

English

Standards

StandardNameIDSource
Common Data Elements (CDE)Youth Disease Progression and Regression Assessment Scale4798106CDE Browser

Process and Review

This section will be completed when reviewed by an Expert Review Panel.

Source

Newcastle University. Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)

2-11 years. Available at bsu.ncl.ac.uk/pdfs/2-11_paed.pdf>.

General References

Enns, G. M., Moore, T., Le, A., Atkuri, K., Shah, M. K., Cusmano-Ozog, K., Niemi, A. K., & Cowan, T. M. (2014). Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status. PLoS One, 9(6), e100001. doi:10.1371/journal.pone.0100001

Phoenix, C., Schaefer, A. M., Elson, J. L., Morava, E., Bugiani, M., Uziel, G., Smeitink, J. A., Turnbull, D. M., & McFarland, R. (2006). A scale to monitor progression and treatment of mitochondrial disease in children. [link[www.ncbi.nlm.nih.gov/pubmed/17123819|Neuromuscular disorders: NMD]], 16(12), 814-820.

Protocol ID:

220702

Variables:

Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX220702_Disease_ProgressionRegression_2to11_DatePX220702010000Date of assessment:4N/A
PX220702_Disease_ProgressionRegression_2to11_AgePX220702020000Age at assessment:4N/A
PX220702_Disease_ProgressionRegression_2to11_Parental_ConsanguinityPX220702030000Parental consanguinity:4N/A
PX220702_Disease_ProgressionRegression_2to11_Parental_AgePresentationPX220702040000Age at presentation:4N/A
PX220702_Disease_ProgressionRegression_2to11_ParentalAge_AgeDxPX220702050000Age at clinical diagnosis:4N/A
PX220702_Disease_ProgressionRegression_2to11_GenotypePX220702060000Genotype if known:4N/A
PX220702_Disease_ProgressionRegression_2to11_Biochemical_PhenotypePX220702070000Biochemical phenotype if known:4N/A
PX220702_Disease_ProgressionRegression_2to11_Basis_DiagnosisPX220702080000Basis of clinical diagnosis e.g. MRI, blood / CSF lactate4N/A
PX220702_Disease_ProgressionRegression_2to11_Reduced_FetalMovementPX220702090000reduced fetal movements4N/A
PX220702_Disease_ProgressionRegression_2to11_Pregnancy_Cardiomyopathy_AntenatalPX220702100000cardiomyopathy on antenatal scans4N/A
PX220702_Disease_ProgressionRegression_2to11_Abnormalities_FetalScanPX220702110000abnormalities on fetal anomaly scan4N/A
PX220702_Disease_ProgressionRegression_2to11_Abnormalities_SpecifyPX220702120000Please specify4N/A
PX220702_Disease_ProgressionRegression_2to11_Pregnancy_Cardiomyopathy_PregnancyOtherPX220702130000Other4N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_GestationalAgePX220702140000gestational age in weeks4N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_DeliveryMethodPX220702150000delivery method (NVD vs instrumental vs C/S)4N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_BirthWeightPX220702160000birth weight in kg4N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_ResuscitationVentilationPX220702170000Resuscitation and ventilation4N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_SpecifyPX220702180000Specify4N/A
PX220702_Disease_ProgressionRegression_2to11_Score_SectionsI-IIIPX220702190000Score Sections I-III4N/A
PX220702_Disease_ProgressionRegression_2to11_Score_SectionIVPX220702200000Score Section IV:4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_VisionPX220702210000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Vision4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_HearingPX220702220000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Hearing4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_CommunicationPX220702230000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - communication (assessed with appropriate regard for age)4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_FeedingPX220702240000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Feeding4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_SelfCarePX220702250000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Self-care (personal hygiene, dressing, utensil use e.g. for feeding)4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_MobilityPX220702260000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Mobility4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_EducationPX220702270000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Educational Achievement4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_SeizuresPX220702280000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - Seisures4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_EncephalopathyPX220702290000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - Encephalopathy4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_StrokeLikePX220702300000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - Stroke-like Episodes4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_GastrointestinalPX220702310000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - Gastrointestinal4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_EndocrinePX220702320000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - Endocrine4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_RespiratoryPX220702330000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - respiratory4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_CardiovascularPX220702340000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - cardiovascular4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_RenalPX220702350000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - Renal4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_LiverPX220702360000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - Liver4N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_BloodPX220702370000Rate system specific involvement during the preceding 6 month period only unless otherwise stated in the question. - blood4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_GrowthWeightPX220702380000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Growth (ht and weight) over preceding 6 months4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_DevelopmentPX220702390000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Development over preceding 6months __ Score4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_VisionPX220702400000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. -Vision4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_PtosisEyeMovementPX220702410000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Ptosis and Eye Movement4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_MyopathyPX220702420000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Myopathy4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_AtaxiaPX220702430000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Ataxia4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_PyramidalPX220702440000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Pyramidal4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_ExtrapyramidalPX220702450000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Extrapyramidal4N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_NeuropathyPX220702460000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Neuropathy4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_OverallHealthPX220702470000During the past 4 weeks, how would you rate your child¿¿¿s overall health?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_PhsyicalActivitiesPX220702480000During the past 4 weeks, how much did your child¿¿¿s physical health problems limit their physical activities (such as walking or playing with friends)?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_LimitsPX220702490000During the past 4 weeks, how much did your child¿¿¿s health problems limit their everyday life (such as attending school, caring for themselves) compared with a person of the same age in perfect health?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_EnergyPX220702500000During the past 4 weeks, how much energy did your child have?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_PainPX220702510000During the past 4 weeks, how much bodily pain / discomfort did your child have?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_EmotionalProblemsPX220702520000During the past 4 weeks, how much was your child bothered by emotional problems?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_AbilitiesLooksPX220702530000During the past 4 weeks, how satisfied did your child feel with their abilities, looks, relationships with other people and life in general?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_BehaviorPX220702540000During the past 4 weeks, how would you rate your child¿¿¿s behaviour compared with other children his / her age?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_InteractionsPX220702550000During the past 4 weeks, how would you rate your child¿¿¿s ability to interact with other people (e.g. making friends, talking to other children / strangers) compared with other children his / her age?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_ParentEmotionsPX220702560000During the past 4 weeks, how much were you (the parent / carer) bothered by emotional problems (e.g. feelings of anxiety, sadness) as a result of your child¿¿¿s illness?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_TimeLimitedPX220702570000During the past 4 weeks, how much was your time limited as a result of your child¿¿¿s illness?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_ActivitiesLimitedPX220702580000During the past 4 weeks, how much were your family¿¿¿s activities limited or interrupted as a result of your child¿¿¿s illness?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_FinancialCostPX220702590000During the past 6 months, what has been the financial cost of your child¿¿¿s illness?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_GetAlongPX220702600000During the past 4 weeks, how would you rate your family¿¿¿s ability to get along with one another?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_PositiveEffectsPX220702610000During the past 4 weeks, how often did your child¿¿¿s illness have a positive effect on your child, you or your family (e.g. being treated well due to illness, meeting new people)?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_OverallHealthPX220702620000During the past 4 weeks, how would you rate your overall health?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_PhysicalProblemsPX220702630000During the past 4 weeks, how much did your physical health problems limit your physical activities (such as walking or playing with friends)?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_HealthLimitsPX220702640000During the past 4 weeks, how much did your health problems limit your everyday life (such as going to school, caring for yourself) compared with a person of your age in perfect health?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_EnergyPX220702650000During the past 4 weeks, how much energy did you have?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_PainPX220702660000During the past 4 weeks, how much pain or discomfort did you have?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_EmotionalProblemsPX220702670000During the past 4 weeks, how much were you bothered by emotional problems (such as feeling sad or frightened)?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_AbilitiesLooksPX220702680000During the past 4 weeks, how satisfied did you feel with your abilities, looks, relationships with other people and life in general?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_BehaviourPX220702690000During the past 4 weeks, how would you rate your behaviour compared with other children your age?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_FriendsPX220702700000During the past 4 weeks, how easy did you find it to get on with other people (e.g. making friends, talking to other children / strangers) compared with other children your age?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_FamilyPX220702710000During the past 4 weeks, how would you rate your family¿¿¿s ability to get along with one another?4N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_PositiveEffectsPX220702720000During the past 4 weeks, how often did your illness have a positive effect on you or your family (e.g. being treated well because of your illness, meeting new people)?4N/A