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Protocol - Disease Progression and Regression - 2-11 Years

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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.

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.

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: ____

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

Protocol Name from Source:

Availability:

Publicly available

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
Major equipment No
Specialized training Yes
Specialized requirements for biospecimen collection No
Average time of greater than 15 minutes in an unaffected individual Yes
Mode of Administration

Self- or proxy-administered questionnaire

Life Stage:

Toddler, Child

Participants:

Children ages 2-11 years

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 Scale 4798106 CDE Browser
Derived Variables

None

Process and Review

Not applicable

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. Neuromuscular disorders: NMD, 16(12), 814-820.

Protocol ID:

220702

Variables:
Export Variables
Variable Name Variable IDVariable DescriptiondbGaP Mapping
PX220702_Disease_ProgressionRegression_2to11_Abnormalities_FetalScan
PX220702110000 abnormalities on fetal anomaly scan N/A
PX220702_Disease_ProgressionRegression_2to11_Abnormalities_Specify
PX220702120000 Please specify N/A
PX220702_Disease_ProgressionRegression_2to11_Age
PX220702020000 Age at assessment: N/A
PX220702_Disease_ProgressionRegression_2to11_Basis_Diagnosis
PX220702080000 Basis of clinical diagnosis e.g. MRI, blood more
/ CSF lactate show less
N/A
PX220702_Disease_ProgressionRegression_2to11_Biochemical_Phenotype
PX220702070000 Biochemical phenotype if known: N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_Ataxia
PX220702430000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Ataxia show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_Development
PX220702390000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Development over preceding 6months __ Score show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_Extrapyramidal
PX220702450000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Extrapyramidal show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_GrowthWeight
PX220702380000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Growth (ht and weight) over preceding 6 months show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_Myopathy
PX220702420000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Myopathy show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_Neuropathy
PX220702460000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Neuropathy show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_PtosisEyeMovement
PX220702410000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Ptosis and Eye Movement show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_Pyramidal
PX220702440000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. - Pyramidal show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentClinical_Vision
PX220702400000 Rate current status according to the more
clinician's examination at the time of assessment unless otherwise stated in the question. -Vision show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_Communication
PX220702230000 Rate function during the preceding 4 week more
period only according to patient and / or caregiver interview. - communication (assessed with appropriate regard for age) show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_Education
PX220702270000 Rate function during the preceding 4 week more
period only according to patient and / or caregiver interview. - Educational Achievement show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_Feeding
PX220702240000 Rate function during the preceding 4 week more
period only according to patient and / or caregiver interview. - Feeding show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_Hearing
PX220702220000 Rate function during the preceding 4 week more
period only according to patient and / or caregiver interview. - Hearing show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_Mobility
PX220702260000 Rate function during the preceding 4 week more
period only according to patient and / or caregiver interview. - Mobility show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_SelfCare
PX220702250000 Rate function during the preceding 4 week more
period only according to patient and / or caregiver interview. - Self-care (personal hygiene, dressing, utensil use e.g. for feeding) show less
N/A
PX220702_Disease_ProgressionRegression_2to11_CurrentFunction_Vision
PX220702210000 Rate function during the preceding 4 week more
period only according to patient and / or caregiver interview. - Vision show less
N/A
PX220702_Disease_ProgressionRegression_2to11_Date
PX220702010000 Date of assessment: N/A
PX220702_Disease_ProgressionRegression_2to11_Genotype
PX220702060000 Genotype if known: N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_BirthWeight
PX220702160000 birth weight in kg N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_DeliveryMethod
PX220702150000 delivery method (NVD vs instrumental vs C/S) N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_GestationalAge
PX220702140000 gestational age in weeks N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_ResuscitationVentilation
PX220702170000 Resuscitation and ventilation N/A
PX220702_Disease_ProgressionRegression_2to11_Neonatal_Specify
PX220702180000 Specify N/A
PX220702_Disease_ProgressionRegression_2to11_ParentalAge_AgeDx
PX220702050000 Age at clinical diagnosis: N/A
PX220702_Disease_ProgressionRegression_2to11_Parental_AgePresentation
PX220702040000 Age at presentation: N/A
PX220702_Disease_ProgressionRegression_2to11_Parental_Consanguinity
PX220702030000 Parental consanguinity: N/A
PX220702_Disease_ProgressionRegression_2to11_Pregnancy_Cardiomyopathy_Antenatal
PX220702100000 cardiomyopathy on antenatal scans N/A
PX220702_Disease_ProgressionRegression_2to11_Pregnancy_Cardiomyopathy_PregnancyOther
PX220702130000 Other N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_AbilitiesLooks
PX220702680000 During the past 4 weeks, how satisfied did more
you feel with your abilities, looks, relationships with other people and life in general? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_Behaviour
PX220702690000 During the past 4 weeks, how would you rate more
your behaviour compared with other children your age? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_EmotionalProblems
PX220702670000 During the past 4 weeks, how much were you more
bothered by emotional problems (such as feeling sad or frightened)? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_Energy
PX220702650000 During the past 4 weeks, how much energy did more
you have? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_Family
PX220702710000 During the past 4 weeks, how would you rate more
your family's ability to get along with one another? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_Friends
PX220702700000 During the past 4 weeks, how easy did you more
find it to get on with other people (e.g. making friends, talking to other children / strangers) compared with other children your age? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_HealthLimits
PX220702640000 During the past 4 weeks, how much did your more
health problems limit your everyday life (such as going to school, caring for yourself) compared with a person of your age in perfect health? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_OverallHealth
PX220702620000 During the past 4 weeks, how would you rate more
your overall health? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_Pain
PX220702660000 During the past 4 weeks, how much pain or more
discomfort did you have? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_PhysicalProblems
PX220702630000 During the past 4 weeks, how much did your more
physical health problems limit your physical activities (such as walking or playing with friends)? show less
Variable Mapping
PX220702_Disease_ProgressionRegression_2to11_QOLSelf_PositiveEffects
PX220702720000 During the past 4 weeks, how often did your more
illness have a positive effect on you or your family (e.g. being treated well because of your illness, meeting new people)? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_AbilitiesLooks
PX220702530000 During the past 4 weeks, how satisfied did more
your child feel with their abilities, looks, relationships with other people and life in general? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_ActivitiesLimited
PX220702580000 During the past 4 weeks, how much were your more
family's activities limited or interrupted as a result of your child's illness? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_Behavior
PX220702540000 During the past 4 weeks, how would you rate more
your child's behaviour compared with other children his / her age? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_EmotionalProblems
PX220702520000 During the past 4 weeks, how much was your more
child bothered by emotional problems? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_Energy
PX220702500000 During the past 4 weeks, how much energy did more
your child have? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_FinancialCost
PX220702590000 During the past 6 months, what has been the more
financial cost of your child's illness? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_GetAlong
PX220702600000 During the past 4 weeks, how would you rate more
your family's ability to get along with one another? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_Interactions
PX220702550000 During the past 4 weeks, how would you rate more
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? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_Limits
PX220702490000 During the past 4 weeks, how much did your more
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? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_OverallHealth
PX220702470000 During the past 4 weeks, how would you rate more
your child's overall health? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_Pain
PX220702510000 During the past 4 weeks, how much bodily more
pain / discomfort did your child have? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_ParentEmotions
PX220702560000 During the past 4 weeks, how much were you more
(the parent / carer) bothered by emotional problems (e.g. feelings of anxiety, sadness) as a result of your child's illness? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_PhsyicalActivities
PX220702480000 During the past 4 weeks, how much did your more
child's physical health problems limit their physical activities (such as walking or playing with friends)? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_PositiveEffects
PX220702610000 During the past 4 weeks, how often did your more
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)? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_QOL_TimeLimited
PX220702570000 During the past 4 weeks, how much was your more
time limited as a result of your child's illness? show less
N/A
PX220702_Disease_ProgressionRegression_2to11_Reduced_FetalMovement
PX220702090000 reduced fetal movements N/A
PX220702_Disease_ProgressionRegression_2to11_Score_SectionIV
PX220702200000 Score Section IV: N/A
PX220702_Disease_ProgressionRegression_2to11_Score_SectionsI-III
PX220702190000 Score Sections I-III N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Blood
PX220702370000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - blood show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Cardiovascular
PX220702340000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - cardiovascular show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Encephalopathy
PX220702290000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - Encephalopathy show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Endocrine
PX220702320000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - Endocrine show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Gastrointestinal
PX220702310000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - Gastrointestinal show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Liver
PX220702360000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - Liver show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Renal
PX220702350000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - Renal show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Respiratory
PX220702330000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - respiratory show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_Seizures
PX220702280000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - Seisures show less
N/A
PX220702_Disease_ProgressionRegression_2to11_SystemInvolvement_StrokeLike
PX220702300000 Rate system specific involvement during the more
preceding 6 month period only unless otherwise stated in the question. - Stroke-like Episodes show less
N/A
Rare Genetic Conditions
Measure Name:

Disease Progression and Regression

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.

Keywords

Newcastle Paediatric Mitochondrial Disease Scale, NPMDS, Newcastle Mitochondrial Disease Adult Scale, NMDAS, mitochondria, developmental delay, intellectual delay, disease, disease scale, progression, regression