Loading…

Protocol - Disease Progression and Regression - 0-24 Months

Add to My Toolkit
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 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 to 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 upon 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)

0 - 24 months

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 _____Y___ N___ unknown_____

• cardiomyopathy on antenatal scans ___ Y___ N___ unknown________

• abnormalities on fetal anomaly scan ___ Y___ N___unknown________ Please specify_______________________________________________

• other:

Neonatal information:

• gestational age _______weeks

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

• birth weight _______kg

• resuscitation and ventilation ___ Y___ N___unknown__ _______

Please specify_______________________________________________

Scores: Sections I-III:

Section IV:

Section I: Current Function

Rate function during the preceding 2 week period only according to caregiver

interview. Indicate the score that best fits patient’s functional status independently of the nature of the signs.

1. Vision

  1. Normal. No parental concerns
  2. Mild. Limited eye or head movement to large objects or parental face in visual field
  3. Moderate. No response to large objects or parental face in the visual field
  4. Severe. No response to light

2. Hearing

  1. Normal
  2. Mild. Body, head or eye movement only to loud noise
  3. Moderate. No reaction to loud noise
  4. Severe. No hearing (even with aid)

3. Communication (assessed with appropriate regard for age)

  1. Normal. Age appropriate communication
  2. Mild. Delayed development of communication
  3. Moderate. Communication unintelligible to parents or completely reliant on non-verbal communication
  4. Severe. Not communicating effectively in any form

4. Feeding

  1. Normal
  2. Mild. Difficulties in sucking / coughing / anorexia / wheezy with feeds or occasional choking
  3. Moderate. Supplementary enteral feeding or recurrent aspiration pneumonia
  4. Severe. Exclusive enteral feeding (gastrostomy / NG tube). Nil by mouth

5. Mobility

  1. Normal. No concerns. Age appropriate mobility
  2. Mild. Clumsy age appropriate mode of mobility
  3. Moderate. Mobile but through age inappropriate mode
  4. Severe. Immobile

Section II: System Specific Involvement

Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. Scores should be assigned according to 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 or intractable seizures

2. Encephalopathy

  1. None
  2. Mild. Abnormal sleepiness / lethargy. Waking only for feeds
  3. Moderate. Recurrent episodes of mild encephalopathy (> 2/year)
  4. Severe. Life threatening encephalopathy - requires artificial ventilation

3. Gastrointestinal

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

4. 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)

5. Respiratory

  1. Normal
  2. Mild. Abnormal respiratory pattern not requiring therapy / hospitalization
  3. Moderate. Abnormal respiration requiring oxygen flow or hospitalisation but not ventilation
  4. Severe. Abnormal respiration requiring artificial ventilation

6. 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

7. 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

8. Liver

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

9. 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 (weight) over preceding 6 months

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

2. Development over preceding 4 months Score: ____

3. Vision

  1. Normal. Normal fixation and tracking
  2. Mild. Impaired fixation and / or tracking of small objects
  3. Moderate. Impaired fixation and / or tracking of familiar faces
  4. Severe. No response to light or registered blind

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 functional movement
  4. Severe. Wheelchair / carrier dependent or respiratory compromise due to myopathy.

6. Pyramidal

  1. Normal
  2. Mild. Unilateral pyramidal signs but retaining functional movement
  3. Moderate. Dense hemiplegia with little movement of affected side
  4. Severe. Bilateral pyramidal weakness with little or no movement

7. Extrapyramidal

  1. Normal.
  2. Mild. Unilateral extrapyramidal posturing and increased tone
  3. Moderate. Bilateral extrapyramidal posturing and increased tone
  4. Severe. Severe extrapyramidal posturing resulting in very little movement

8. 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

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 moving or playing)?

[ ] Very much

[ ] Quite a lot

[ ] Somewhat

[ ] A little

[ ] Not at all

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

[ ] None

[ ] A little

[ ] Some

[ ] Quite a lot

[ ] Very much

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

[ ] Very much

[ ] Quite a lot

[ ] Some

[ ] A little

[ ] None

5) 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

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

[ ] Very poor

[ ] Poor

[ ] Fair

[ ] Good

[ ] Very good

7) 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

8) 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

9) 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

10) 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

11) 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

12) 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

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 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

Proxy-administered questionnaire

Life Stage:

Infant, Toddler

Participants:

Children ages 0-24 months

Specific Instructions:

In order to maximize consistency, the authors of the scale state 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 also that the scale be 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) Infant Disease Progression and Regression Assessment Scale 4798100 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)

0-24 months.

Available at bsu.ncl.ac.uk/pdfs/0-2_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:

220701

Variables:
Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX220701_Disease_ProgressionRegression_024Mo_Abnormalities_FetalScan PX220701110000 abnormalities on fetal anomaly scan 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Abnormalities_Specify PX220701120000 Please specify 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Age PX220701020000 Age at assessment: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Basis_Diagnosis PX220701080000 Basis of clinical diagnosis e.g. MRI, blood / CSF lactate 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Biochemical_Phenotype PX220701070000 Biochemical phenotype if known: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_Development PX220701360000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Development over preceding 4 months __ Score 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_Extrapyramidal PX220701410000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Extrapyramidal 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_GrowthWeight PX220701350000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Growth (weight) over preceding 6 months 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_Myopathy PX220701390000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Myopathy 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_Neuropathy PX220701420000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Neuropathy 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_PtosisEyeMovement PX220701380000 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
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_Pyramidal PX220701400000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. - Pyramidal 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_Vision PX220701370000 Rate current status according to the clinician's examination at the time of assessment unless otherwise stated in the question. -Vision 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_Communication PX220701230000 Rate function during the preceding 2 week period only according to caregiver - communication (assessed with appropriate regard for age) 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_Feeding PX220701240000 Rate function during the preceding 2 week period only according to caregiver - Feeding 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_Hearing PX220701220000 Rate function during the preceding 2 week period only according to caregiver - Hearing 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_Mobility PX220701250000 Rate function during the preceding 2 week period only according to caregiver - Mobility 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_Vision PX220701210000 Rate function during the preceding 2 week period only according to caregiver - Vision 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Date PX220701010000 Date of assessment: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Genotype PX220701060000 Genotype if known: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_BirthWeight PX220701160000 birth weight in kg 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_DeliveryMethod PX220701150000 delivery method (NVD vs instrumental vs C/S) 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_GestationalAge PX220701140000 gestational age ____weeks 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_ResuscitationVentilation PX220701170000 Resuscitation and ventilation 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_Specify PX220701180000 Specify 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_ParentalAge_AgeDx PX220701050000 Age at clinical diagnosis: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Parental_AgePresentation PX220701040000 Age at presentation: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Parental_Consanguinity PX220701030000 Parental consanguinity: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Pregnancy_Cardiomyopathy_Antenatal PX220701100000 cardiomyopathy on antenatal scans 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Pregnancy_Cardiomyopathy_PregnancyOther PX220701130000 Other 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_ActivitiesLimited PX220701510000 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
PX220701_Disease_ProgressionRegression_024Mo_QOL_Behavior PX220701470000 During the past 4 weeks, how would you rate your child's behaviour compared with other children his / her age? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_EmotionalProblems PX220701490000 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
PX220701_Disease_ProgressionRegression_024Mo_QOL_Energy PX220701450000 During the past 4 weeks, how much energy did your child have? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_FinancialCost PX220701520000 During the past 6 months, what has been the financial cost of your child's illness? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_GetAlong PX220701530000 During the past 4 weeks, how would you rate your family's ability to get along with one another? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_Interactions PX220701480000 During the past 4 weeks, how would you rate your child's ability to interact with other people (e.g. with you, siblings or other children his / her age) compared with other children his / her age? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_OverallHealth PX220701430000 During the past 4 weeks, how would you rate your child's overall health? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_Pain PX220701460000 During the past 4 weeks, how much bodily pain / discomfort did your child have? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_PhsyicalActivities PX220701440000 During the past 4 weeks, how much did your child's physical health problems limit their physical activities (such as moving or playing)? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_PositiveEffects PX220701540000 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
PX220701_Disease_ProgressionRegression_024Mo_QOL_TimeLimited PX220701500000 During the past 4 weeks, how much was your time limited as a result of your child's illness? 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Reduced_FetalMovement PX220701090000 reduced fetal movements 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Score_SectionIV PX220701200000 Score Section IV: 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_Score_SectionsI-III PX220701190000 Score Sections I-III 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Blood PX220701340000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - blood 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Cardiovascular PX220701310000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - cardiovascular 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Encephalopathy PX220701270000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - Encephalopathy 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Endocrine PX220701290000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - Endocrine 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Gastrointestinal PX220701280000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - Gastrointestinal 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Liver PX220701330000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - Liver 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Renal PX220701320000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - Renal 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Respiratory PX220701300000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - respiratory 4 N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_Seizures PX220701260000 Rate system specific involvement during the preceding 6 month period only (or since birth if the child is less than 6 months old) unless otherwise stated in the question. - Seisures 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