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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.

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:

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

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

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.

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

Protocol ID:

220702

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