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Protocol - Disease Progression and Regression - 12-18 Years

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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 investigators from Newcastle University recommend that if the child experiences early onset of a mitochondrial disease in childhood, the NPMDS 12-18 year scale should be used. If an adolescent experiences onset of a mitochondrial disease, the investigators recommend switching to the NMDAS scale at 16 years.

The scales 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 is moderate, and 3 is severe. Examples of severity for each question are provided. Depending on the domain, the questions are either self- or interviewer-administrated, based on a provider’s clinical assessment or medical records. There is a manual for each scale, which details the administration, process, and scoring instructions.

Protocol:

The Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)

12 - 18 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: 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. Difficulty with small print or text on the television
  3. Moderate. Difficulty outside the home (e.g. bus numbers, road signs or shopping)
  4. Severe. Difficulty recognising faces or unable to navigate without help or registered blind

2. Hearing

  1. Normal
  2. Mild. Mild deafness (e.g. missing words in presence of background noise)
  3. Moderate. Hearing impaired but fully corrected with hearing aid
  4. Severe. Poor hearing even with aid or reliant on non-verbal communication

3. Communication

  1. Normal
  2. Mild. Mild speech difficulties but easily understood and rarely asked to repeat things
  3. Moderate. Speech poorly understood by strangers and frequently asked to repeat things
  4. Severe. Speech not understood by family or friends and / or requires communication aid

4. Feeding

  1. Normal
  2. Mild. Choking / vomiting / anorexia resulting in reduced intake or swallowing difficulties requiring dietary adaptations
  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
  2. Mild. Slow and / or clumsy self-care requiring extra time or effort. Requires help with some tasks
  3. Moderate. Requires help with most tasks but retains some independent selfcare function
  4. Severe. Requires one to one assistance

6. Mobility

  1. Normal
  2. Mild. Difficulty walking up stairs or inclines
  3. Moderate. Requires support (stick / frame / callipers) to walk on the flat
  4. Severe. Wheelchair dependent

7. Educational Achievement

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

Section II: System Specific Involvement

Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician’s knowledge and clinical notes.

1. Seizures

  1. None
  2. Mild. Myoclonic or absence seizures only or < 1 generalised tonic-clonic seizure each 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. Endocrine decompensation (e.g. diabetic ketoacidosis, Addisonian 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

  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 LTFs 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 performed 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 12 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 or only 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 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 D: Quality of Life- Self Completed

12-16 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 going out 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

(e.g. 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

[ ] Neither dissatisfied or satisfied

[ ] Quite satisfied

[ ] Very satisfied

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

people 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 friends / strangers) compared with other people 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

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 or other rare genetic conditions.

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:

Child, Adolescent

Specific Instructions:

To maximize consistency, the authors of the scales state it is essential that clinicians adhere to the scale instructions. They also advise 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)Adolescent Disease Progression and Regression Assessment Scale4798109CDE 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)

12-18 years. Available at bsu.ncl.ac.uk/pdfs/12-18_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:

220703

Variables:

Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX220703_Disease_ProgressionRegression_12to18_QOL_AbilitiesLooksPX220703530000During the past 4 weeks, how satisfied did your child feel with their abilities, looks, relationships with other people and life in general?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_BehaviorPX220703540000During the past 4 weeks, how would you rate your child¿¿¿s behaviour compared with other children his / her age?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_InteractionsPX220703550000During 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
PX220703_Disease_ProgressionRegression_12to18_QOL_ParentEmotionsPX220703560000During 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
PX220703_Disease_ProgressionRegression_12to18_QOL_TimeLimitedPX220703570000During the past 4 weeks, how much was your time limited as a result of your child¿¿¿s illness?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_ActivitiesLimitedPX220703580000During the past 4 weeks, how much were your family¿¿¿s activities limited or interrupted as a result of your child¿¿¿s illness?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_FinancialCostPX220703590000During the past 6 months, what has been the financial cost of your child¿¿¿s illness?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_GetAlongPX220703600000During the past 4 weeks, how would you rate your family¿¿¿s ability to get along with one another?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_PositiveEffectsPX220703610000During 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
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_OverallHealthPX220703620000During the past 4 weeks, how would you rate your overall health?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_PhysicalProblemsPX220703630000During the past 4 weeks, how much did your physical health problems limit your physical activities (such as walking or playing with friends)?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_HealthLimitsPX220703640000During 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
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_EnergyPX220703650000During the past 4 weeks, how much energy did you have?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_PainPX220703660000During the past 4 weeks, how much pain or discomfort did you have?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_EmotionalProblemsPX220703670000During the past 4 weeks, how much were you bothered by emotional problems (such as feeling sad or frightened)?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_AbilitiesLooksPX220703680000During the past 4 weeks, how satisfied did you feel with your abilities, looks, relationships with other people and life in general?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_BehaviourPX220703690000During the past 4 weeks, how would you rate your behaviour compared with other children your age?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_FriendsPX220703700000During 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
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_FamilyPX220703710000During the past 4 weeks, how would you rate your family¿¿¿s ability to get along with one another?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_PositiveEffectsPX220703720000During 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
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_CommunicationPX220703230000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - communication (assessed with appropriate regard for age)4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_FeedingPX220703240000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Feeding4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_SelfCarePX220703250000Rate 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
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_MobilityPX220703260000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Mobility4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_EducationPX220703270000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Educational Achievement4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_SeizuresPX220703280000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - Seisures4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_EncephalopathyPX220703290000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - Encephalopathy4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_StrokeLikePX220703300000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - Stroke-like Episodes4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_GastrointestinalPX220703310000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - Gastrointestinal4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_EndocrinePX220703320000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - Endocrine4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_RespiratoryPX220703330000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - respiratory4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_CardiovascularPX220703340000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - cardiovascular4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_RenalPX220703350000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - Renal4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_LiverPX220703360000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - Liver4N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_BloodPX220703370000Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician¿¿¿s knowledge and clinical notes. - blood4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_GrowthWeightPX220703380000Rate 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
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_DevelopmentPX220703390000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Development over preceding 12 months __ Score4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_VisionPX220703400000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. -Vision4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_PtosisEyeMovementPX220703410000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Ptosis and Eye Movement4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_MyopathyPX220703420000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Myopathy4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_AtaxiaPX220703430000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Ataxia4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_PyramidalPX220703440000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Pyramidal4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_ExtrapyramidalPX220703450000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Extrapyramidal4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_NeuropathyPX220703460000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Neuropathy4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_OverallHealthPX220703470000During the past 4 weeks, how would you rate your child¿¿¿s overall health?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_PhsyicalActivitiesPX220703480000During 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
PX220703_Disease_ProgressionRegression_12to18_QOL_LimitsPX220703490000During 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
PX220703_Disease_ProgressionRegression_12to18_QOL_EnergyPX220703500000During the past 4 weeks, how much energy did your child have?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_PainPX220703510000During the past 4 weeks, how much bodily pain / discomfort did your child have?4N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_EmotionalProblemsPX220703520000During the past 4 weeks, how much was your child bothered by emotional problems?4N/A
PX220703_Disease_ProgressionRegression_12to18_DatePX220703010000Date of assessment:4N/A
PX220703_Disease_ProgressionRegression_12to18_AgePX220703020000Age at assessment:4N/A
PX220703_Disease_ProgressionRegression_12to18_Parental_ConsanguinityPX220703030000Parental consanguinity:4N/A
PX220703_Disease_ProgressionRegression_12to18_Parental_AgePresentationPX220703040000Age at presentation:4N/A
PX220703_Disease_ProgressionRegression_12to18_ParentalAge_AgeDxPX220703050000Age at clinical diagnosis:4N/A
PX220703_Disease_ProgressionRegression_12to18_GenotypePX220703060000Genotype if known:4N/A
PX220703_Disease_ProgressionRegression_12to18_Biochemical_PhenotypePX220703070000Biochemical phenotype if known:4N/A
PX220703_Disease_ProgressionRegression_12to18_Basis_DiagnosisPX220703080000Basis of clinical diagnosis e.g. MRI, blood / CSF lactate4N/A
PX220703_Disease_ProgressionRegression_12to18_Reduced_FetalMovementPX220703090000reduced fetal movements4N/A
PX220703_Disease_ProgressionRegression_12to18_Pregnancy_Cardiomyopathy_AntenatalPX220703100000cardiomyopathy on antenatal scans4N/A
PX220703_Disease_ProgressionRegression_12to18_Abnormalities_FetalScanPX220703110000abnormalities on fetal anomaly scan4N/A
PX220703_Disease_ProgressionRegression_12to18_Abnormalities_SpecifyPX220703120000Please specify4N/A
PX220703_Disease_ProgressionRegression_12to18_Pregnancy_Cardiomyopathy_PregnancyOtherPX220703130000Other4N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_GestationalAgePX220703140000gestational age in weeks4N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_DeliveryMethodPX220703150000delivery method (NVD vs instrumental vs C/S)4N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_BirthWeightPX220703160000birth weight in kg4N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_ResuscitationVentilationPX220703170000Resuscitation and ventilation4N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_SpecifyPX220703180000Specify4N/A
PX220703_Disease_ProgressionRegression_12to18_Score_SectionsI-IIIPX220703190000Score Sections I-III4N/A
PX220703_Disease_ProgressionRegression_12to18_Score_SectionIVPX220703200000Score Section IV:4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_VisionPX220703210000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Vision4N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_HearingPX220703220000Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Hearing4N/A