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Protocol - Disease Progression and Regression - 0-24 Months

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Protocol Name from Source:

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

Availability:

Publicly available

Description:

The Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) and the Newcastle Mitochondrial Disease Adult Scale (NMDAS) can be used to evaluate the progression of mitochondrial disease. There are three versions of the NPMDS, each for a specific age range (0-24 months, 2-11 years, and 12-18 years). The NMDAS is for adult patients over 16 years.

The 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: ____

[img[disease_progression_and_regression.png|]]

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

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
Average time of greater than 15 minutes in an unaffected individualYes
Major equipmentNo
Specialized requirements for biospecimen collectionNo
Specialized trainingYes

Mode of Administration

Self-administered

Life Stage:

Infant, Toddler

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.

Research Domain Information

Release Date:

April 30, 2015

Definition

This measure determines the impact of disease on an individual over time.

Purpose

This measure is used to assess the presence and degree of symptoms over time. Rare genetic diseases, such as mitochondrial disorders and mucopolysaccharidosis (MPS), can be associated with symptoms that become more severe over time and may result in a regression of some physical abilities. This measure can be used to quantify such changes to determine the natural course of disease(s) as well as contribute to longitudinal or therapeutic intervention studies.

Selection Rationale

The Rare Genetic Conditions Working Group (WG) selected the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) and the Newcastle Mitochondrial Disease Adult Scale (NMDAS) because mitochondrial disorders have a wide array of symptoms making this measure potentially extensible to other progressive disorders. In addition, rare genetic disorders can be associated with secondary mitochondrial dysfunction and overlapping symptoms. Although these scales were developed for mitochondrial diseases, the WG acknowledges data from these scales can be beneficial for other rare genetic conditions, such as inborn errors of metabolism, storage disorders, and nonmitochondrial myopathies.

Language

English

Standards

StandardNameIDSource
Common Data Elements (CDE)Infant Disease Progression and Regression Assessment Scale4798100CDE 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)

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. [link[www.ncbi.nlm.nih.gov/pubmed/17123819|Neuromuscular disorders: NMD]], 16(12), 814-820.

Protocol ID:

220701

Variables:

Export Variables
Variable NameVariable IDVariable DescriptionVersiondbGaP Mapping
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_RenalPX220701320000Rate 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. - Renal4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_LiverPX220701330000Rate 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. - Liver4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_BloodPX220701340000Rate 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. - blood4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_GrowthWeightPX220701350000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Growth (weight) over preceding 6 months4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_DevelopmentPX220701360000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Development over preceding 4 months __ Score4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_VisionPX220701370000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. -Vision4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_PtosisEyeMovementPX220701380000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Ptosis and Eye Movement4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_MyopathyPX220701390000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Myopathy4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_PyramidalPX220701400000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Pyramidal4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_ExtrapyramidalPX220701410000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Extrapyramidal4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentClinical_NeuropathyPX220701420000Rate current status according to the clinician¿¿¿s examination at the time of assessment unless otherwise stated in the question. - Neuropathy4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_OverallHealthPX220701430000During the past 4 weeks, how would you rate your child¿¿¿s overall health?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_PhsyicalActivitiesPX220701440000During the past 4 weeks, how much did your child¿¿¿s physical health problems limit their physical activities (such as moving or playing)?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_EnergyPX220701450000During the past 4 weeks, how much energy did your child have?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_PainPX220701460000During the past 4 weeks, how much bodily pain / discomfort did your child have?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_BehaviorPX220701470000During the past 4 weeks, how would you rate your child¿¿¿s behaviour compared with other children his / her age?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_InteractionsPX220701480000During 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?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_EmotionalProblemsPX220701490000During the past 4 weeks, how much were you (the parent / carer) bothered by emotional problems (e.g. feelings of anxiety, sadness) as a result of your child¿¿¿s illness?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_TimeLimitedPX220701500000During the past 4 weeks, how much was your time limited as a result of your child¿¿¿s illness?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_ActivitiesLimitedPX220701510000During the past 4 weeks, how much were your family¿¿¿s activities limited or interrupted as a result of your child¿¿¿s illness?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_FinancialCostPX220701520000During the past 6 months, what has been the financial cost of your child¿¿¿s illness?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_GetAlongPX220701530000During the past 4 weeks, how would you rate your family¿¿¿s ability to get along with one another?4N/A
PX220701_Disease_ProgressionRegression_024Mo_QOL_PositiveEffectsPX220701540000During the past 4 weeks, how often did your child¿¿¿s illness have a positive effect on your child, you or your family (e.g. being treated well due to illness, meeting new people)?4N/A
PX220701_Disease_ProgressionRegression_024Mo_DatePX220701010000Date of assessment:4N/A
PX220701_Disease_ProgressionRegression_024Mo_AgePX220701020000Age at assessment:4N/A
PX220701_Disease_ProgressionRegression_024Mo_Parental_ConsanguinityPX220701030000Parental consanguinity:4N/A
PX220701_Disease_ProgressionRegression_024Mo_Parental_AgePresentationPX220701040000Age at presentation:4N/A
PX220701_Disease_ProgressionRegression_024Mo_ParentalAge_AgeDxPX220701050000Age at clinical diagnosis:4N/A
PX220701_Disease_ProgressionRegression_024Mo_GenotypePX220701060000Genotype if known:4N/A
PX220701_Disease_ProgressionRegression_024Mo_Biochemical_PhenotypePX220701070000Biochemical phenotype if known:4N/A
PX220701_Disease_ProgressionRegression_024Mo_Basis_DiagnosisPX220701080000Basis of clinical diagnosis e.g. MRI, blood / CSF lactate4N/A
PX220701_Disease_ProgressionRegression_024Mo_Reduced_FetalMovementPX220701090000reduced fetal movements4N/A
PX220701_Disease_ProgressionRegression_024Mo_Pregnancy_Cardiomyopathy_AntenatalPX220701100000cardiomyopathy on antenatal scans4N/A
PX220701_Disease_ProgressionRegression_024Mo_Abnormalities_FetalScanPX220701110000abnormalities on fetal anomaly scan4N/A
PX220701_Disease_ProgressionRegression_024Mo_Abnormalities_SpecifyPX220701120000Please specify4N/A
PX220701_Disease_ProgressionRegression_024Mo_Pregnancy_Cardiomyopathy_PregnancyOtherPX220701130000Other4N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_GestationalAgePX220701140000gestational age ____weeks4N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_DeliveryMethodPX220701150000delivery method (NVD vs instrumental vs C/S)4N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_BirthWeightPX220701160000birth weight in kg4N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_ResuscitationVentilationPX220701170000Resuscitation and ventilation4N/A
PX220701_Disease_ProgressionRegression_024Mo_Neonatal_SpecifyPX220701180000Specify4N/A
PX220701_Disease_ProgressionRegression_024Mo_Score_SectionsI-IIIPX220701190000Score Sections I-III4N/A
PX220701_Disease_ProgressionRegression_024Mo_Score_SectionIVPX220701200000Score Section IV:4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_VisionPX220701210000Rate function during the preceding 2 week period only according to caregiver - Vision4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_HearingPX220701220000Rate function during the preceding 2 week period only according to caregiver - Hearing4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_CommunicationPX220701230000Rate function during the preceding 2 week period only according to caregiver - communication (assessed with appropriate regard for age)4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_FeedingPX220701240000Rate function during the preceding 2 week period only according to caregiver - Feeding4N/A
PX220701_Disease_ProgressionRegression_024Mo_CurrentFunction_MobilityPX220701250000Rate function during the preceding 2 week period only according to caregiver - Mobility4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_SeizuresPX220701260000Rate 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. - Seisures4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_EncephalopathyPX220701270000Rate 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. - Encephalopathy4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_GastrointestinalPX220701280000Rate 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. - Gastrointestinal4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_EndocrinePX220701290000Rate 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. - Endocrine4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_RespiratoryPX220701300000Rate 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. - respiratory4N/A
PX220701_Disease_ProgressionRegression_024Mo_SystemInvolvement_CardiovascularPX220701310000Rate 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. - cardiovascular4N/A