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Protocol - Disease Progression and Regression - 12-18 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 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:____

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

Protocol Name from Source:

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

Availability:

Publicly available

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
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:

Child, Adolescent

Participants:

Children and adolescents ages 12-18 years old

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.

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 Scale 4798109 CDE Browser
Derived Variables

None

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

Protocol ID:

220703

Variables:
Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX220703_Disease_ProgressionRegression_12to18_Abnormalities_FetalScan PX220703110000 abnormalities on fetal anomaly scan 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Abnormalities_Specify PX220703120000 Please specify 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Age PX220703020000 Age at assessment: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Basis_Diagnosis PX220703080000 Basis of clinical diagnosis e.g. MRI, blood / CSF lactate 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Biochemical_Phenotype PX220703070000 Biochemical phenotype if known: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_Ataxia PX220703430000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Ataxia 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_Development PX220703390000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Development over preceding 12 months __ Score 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_Extrapyramidal PX220703450000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Extrapyramidal 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_GrowthWeight PX220703380000 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
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_Myopathy PX220703420000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Myopathy 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_Neuropathy PX220703460000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Neuropathy 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_PtosisEyeMovement PX220703410000 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
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_Pyramidal PX220703440000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Pyramidal 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentClinical_Vision PX220703400000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. -Vision 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_Communication PX220703230000 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
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_Education PX220703270000 Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Educational Achievement 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_Feeding PX220703240000 Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Feeding 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_Hearing PX220703220000 Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Hearing 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_Mobility PX220703260000 Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Mobility 4 N/A
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_SelfCare PX220703250000 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
PX220703_Disease_ProgressionRegression_12to18_CurrentFunction_Vision PX220703210000 Rate function during the preceding 4 week period only according to patient and / or caregiver interview. - Vision 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Date PX220703010000 Date of assessment: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Genotype PX220703060000 Genotype if known: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_BirthWeight PX220703160000 birth weight in kg 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_DeliveryMethod PX220703150000 delivery method (NVD vs instrumental vs C/S) 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_GestationalAge PX220703140000 gestational age in weeks 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_ResuscitationVentilation PX220703170000 Resuscitation and ventilation 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Neonatal_Specify PX220703180000 Specify 4 N/A
PX220703_Disease_ProgressionRegression_12to18_ParentalAge_AgeDx PX220703050000 Age at clinical diagnosis: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Parental_AgePresentation PX220703040000 Age at presentation: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Parental_Consanguinity PX220703030000 Parental consanguinity: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Pregnancy_Cardiomyopathy_Antenatal PX220703100000 cardiomyopathy on antenatal scans 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Pregnancy_Cardiomyopathy_PregnancyOther PX220703130000 Other 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_AbilitiesLooks PX220703680000 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
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_Behaviour PX220703690000 During the past 4 weeks, how would you rate your behaviour compared with other children your age? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_EmotionalProblems PX220703670000 During the past 4 weeks, how much were you bothered by emotional problems (such as feeling sad or frightened)? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_Energy PX220703650000 During the past 4 weeks, how much energy did you have? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_Family PX220703710000 During the past 4 weeks, how would you rate your family's ability to get along with one another? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_Friends PX220703700000 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
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_HealthLimits PX220703640000 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
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_OverallHealth PX220703620000 During the past 4 weeks, how would you rate your overall health? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_Pain PX220703660000 During the past 4 weeks, how much pain or discomfort did you have? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_PhysicalProblems PX220703630000 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
PX220703_Disease_ProgressionRegression_12to18_QOLSelf_PositiveEffects PX220703720000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_AbilitiesLooks PX220703530000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_ActivitiesLimited PX220703580000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_Behavior PX220703540000 During the past 4 weeks, how would you rate your child's behaviour compared with other children his / her age? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_EmotionalProblems PX220703520000 During the past 4 weeks, how much was your child bothered by emotional problems? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_Energy PX220703500000 During the past 4 weeks, how much energy did your child have? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_FinancialCost PX220703590000 During the past 6 months, what has been the financial cost of your child's illness? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_GetAlong PX220703600000 During the past 4 weeks, how would you rate your family's ability to get along with one another? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_Interactions PX220703550000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_Limits PX220703490000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_OverallHealth PX220703470000 During the past 4 weeks, how would you rate your child's overall health? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_Pain PX220703510000 During the past 4 weeks, how much bodily pain / discomfort did your child have? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_QOL_ParentEmotions PX220703560000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_PhsyicalActivities PX220703480000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_PositiveEffects PX220703610000 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
PX220703_Disease_ProgressionRegression_12to18_QOL_TimeLimited PX220703570000 During the past 4 weeks, how much was your time limited as a result of your child's illness? 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Reduced_FetalMovement PX220703090000 reduced fetal movements 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Score_SectionIV PX220703200000 Score Section IV: 4 N/A
PX220703_Disease_ProgressionRegression_12to18_Score_SectionsI-III PX220703190000 Score Sections I-III 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Blood PX220703370000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - blood 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Cardiovascular PX220703340000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - cardiovascular 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Encephalopathy PX220703290000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - Encephalopathy 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Endocrine PX220703320000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - Endocrine 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Gastrointestinal PX220703310000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - Gastrointestinal 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Liver PX220703360000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - Liver 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Renal PX220703350000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - Renal 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Respiratory PX220703330000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - respiratory 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_Seizures PX220703280000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - Seisures 4 N/A
PX220703_Disease_ProgressionRegression_12to18_SystemInvolvement_StrokeLike PX220703300000 Rate system specific involvement during the preceding 12 month period only according to patient and / or caregiver, clinician's knowledge and clinical notes. - 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