Functional outcome measures for infantile Charcot‐Marie‐Tooth disease: a systematic review

A functional outcome measure for infants (aged 0–3 years) with Charcot‐Marie‐Tooth (CMT) disease is needed for upcoming disease‐modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for spinal muscular atrophy (SMA). There were no CMT‐specific outcome measures identified; however, one (motor function measure) assessed a range of neuromuscular disorders including 13 infants and children with CMT. The included studies exhibited “good” face, discriminant, convergent and concurrent validity, and reported excellent intra‐ and inter‐rater reliability. No outcome measure was subjected to item response theory. Studies reported outcome measures comprising of 51 different items assessing six domains of function: reflexive movement, axial movement, limb movement, positioning, gross motor, and fine‐motor skills. Scoring of items ranged from 2‐ to 7‐point rating scales; and none were scaled to normative reference values to account for changes in growth and development. The SMA focus of most items is likely to produce ceiling effects and lack sensitivity and responsiveness for within and between types of CMT in infants. Nevertheless, several items across scales assessing distal strength, gross‐ and fine‐motor function, could be included in the development of a composite functional outcome measure for infants with CMT to assess disease‐modifying interventions.     

Validation of the Italian version of the Charcot‐Marie‐Tooth Health Index

The Charcot‐Marie‐Tooth Health Index (CMT‐HI) is a disease‐specific patient‐reported outcome measure measuring overall disease burden in Charcot‐Marie‐Tooth (CMT) patients, designed for natural history studies and clinical trials in English‐speaking affected individuals. We developed and validated its Italian Charcot‐Marie‐Tooth Health Index (I‐CMT‐HI) version. The questionnaire was translated and culturally adapted from source into Italian by two neurologists experienced in CMT and neuromuscular disorders (NMDs). The two translations were reviewed by a panel of seven experts in CMT and NMD. The provisional version was back‐translated into English by a professional translator. The definitive Italian version was developed during a consensus teleconference by the panel and a patient representative from ACMT‐Rete. A series of clinically and genetically characterized CMT patients completed the final questionnaire; 11 participated in a test‐retest reliability assessment of the instrument. The I‐CMT‐HI was administered to 30 CMT patients (13 CMT1A, eight CMTX1, two CMT1B, two CMT1E, two CMT2I, one CMT2A, one CMT2N, one distal Hereditary Motor Neuropathy), with test‐rest in 11:14 females and 16 males, aged (mean ± SD) 48.0 ± 16.4 years (range 18‐81), with CMT Examination Score (CMTES) = 10.0 ± 4.4 (range 2‐18). The I‐CMT‐HI mean total score was 29.4 ± 21.2 (range 0.1‐60.3). The I‐CMT‐HI showed a high test‐retest reliability: intraclass correlation coefficient = 0.95 (95% confidence interval, 0.84‐0.99). No patient had difficulty in completing the questionnaire and none reported any problem with the questions' formulation. The total CMT‐HI score was positively correlated with age and CMTES, with higher disease burden with increasing age and disease severity according to the CMTES. The I‐CMT‐HI is now ready for use in clinical studies in the Italian population.     

Operational definitions improve reliability of the age‐related white matter changes scale

Background and purpose: Although the age‐related white matter changes (ARWMC) scale has been advocated to be applicable to both MRI and CT for assessing the severity of WMC, its inter‐rater reliability on CT is only fair. We aimed to operationalize the ARWMC scale and investigate the effect of this operationalization on the reliability and validity on MRI and CT. Methods: Operational definitions of the ARWMC scale were derived from Erkinjuntti research criteria for subcortical vascular dementia and Scheltens scale. Using original and operationalized ARWMC scale, eight observers recorded the time for rating per MRI and per CT. We investigated the inter‐rater and intrarater reliability as well as validity against volume using data from 97 stroke patients. Results: Inter‐rater reliability of the operationalized scale on CT (0.874, 95% confidence interval [0.780–0.934]) was better than the original scale (0.569, 95% confidence interval [0.247–0.775]). Its intrarater reliability on CT (0.869) and reliability on MRI (inter‐rater: 0.860; intrarater: 0.838) was comparable with the original scale (CT intrarater: 0.750 and on MRI inter‐rater: 0.845; intrarater: 0.853). The time required to administer the operationalized scale (4′2″ for MRI and 1′18″ for CT) was similar to that of the original scale (3′56″ for MRI and 1′16″ for CT). The original scale and operationalized scale also significantly correlated with WMC volume (operationalized scale ρ = 0.613, P < 0.001, original scale ρ = 0.638, P < 0.001). Conclusion: Operational definitions improve the inter‐rater reliability of ARWMC scale on CT, and it correlates with volumetric measurement.     

Evaluation of three nurse‐administered depression rating scales on acute admission and continuing care geriatric psychiatry wards

Several instruments measuring depression in institutional settings have been described but individual instruments have only occasionally been compared with each other. Some psychometric properties, including internal consistency, test‐retest and inter‐rater reliability, and concurrent validity of three nurse‐administered depression rating scales were evaluated on acute admission and continuing care geriatric psychiatry wards. The Depressive Signs Scale (DSS) was significantly correlated with the Depression in Dementia Mood Scale (DDMS) (rho = +0.59) and the Cornell Scale (rho = +0.71). The DDMS was correlated with the Cornell Scale (rho = +0.32). The internal consistency, as measured by Cronbach's alpha, for the DSS, the DDMS and the Cornell Scale was 0.47, 0.64 and 0.74 respectively. The test‐retest reliability of the DSS, the DDMS and the Cornell Scale was 0.73, 0.62 and 0.83 respectively. The DSS and the Cornell scale had poor inter‐rater reliability, but the DDMS had satisfactory inter‐rater reliability of 0.59. These scales, with a novel form of administration, are not suitable for detecting significant clinical depression in acutely admitted and continuing‐care geriatric psychiatry inpatients. However, the DDMS has satisfactory properties for use in measuring presence and quantity of depressive symptoms. Copyright © 2001 Whurr Publishers Ltd.     

Validation of personal digital photography to assess dietary quality among people with intellectual disabilities

Background Dietary assessment is a challenge in general, and specifically in individuals with intellectual disabilities (ID). This study aimed to evaluate personal digital photography as a method of assessing different aspects of dietary quality in this target group. Method Eighteen adults with ID were recruited from community residences and activity centres in Stockholm County. Participants were instructed to photograph all foods and beverages consumed during 1 day, while observed. Photographs were coded by two raters. Observations and photographs of meal frequency, intake occasions of four specific food and beverage items, meal quality and dietary diversity were compared. Evaluation of inter‐rater reliability and validity of the method was performed by intra‐class correlation analysis. Results With reminders from staff, 85% of all observed eating or drinking occasions were photographed. The inter‐rater reliability was excellent for all assessed variables (ICC ≥ 0.88), except for meal quality where ICC was 0.66. The correlations between items assessed in photos and observations were strong to almost perfect with ICC values ranging from 0.71 to 0.92 and all were statistically significant. Conclusion Personal digital photography appears to be a feasible, reliable and valid method for assessing dietary quality in people with mild to moderate ID, who have daily staff support.     

Inter‐rater reliability of the Abnormal Involuntary Movements Scale (AIMS) in a multi‐centre trial: results from Department of Veterans Affairs Cooperative Study #394

The US Department of Veterans' Affairs (VA) conducted Cooperative Study #394 at nine sites to determine whether vitamin E was a safe and effective treatment for tardive dyskinesia (TD). The study used the Abnormal Involuntary Movement Scale (AIMS) to measure TD. To monitor inter‐rater reliability (IRR) on the AIMS, personnel at each site did initial AIMS assessments, on seven occasions, on a set of five unique subjects from videotapes. On four of these occasions raters re‐assessed sets of five subjects from seven to 13 months after their initial ratings. We analysed the initial ratings of 34 videotaped subjects and the second ratings of 19. To measure IRR, we used the intra‐class correlation coefficient (ICC) for each initial or second rating of the sets of interviews. The ICCs ranged from 0.50 to 0.86, and the ICC for the initial ratings over all 34 subjects was good (0.75; 95% confidence interval 0.64 to 0.83). To determine whether there was significant ‘rater drift’ during the study, we performed linear mixed effects regression on the data with fixed effects for rating (initial or second), rater type, and site and a random effect for rating. The results indicated that scores varied little between ratings (about 0.05 points). Copyright © 2000 Whurr Publishers Ltd.     

Between‐day reliability of the trapezius muscle H‐reflex and M‐wave

Introduction: The aim of this study was to investigate the between‐day reliability of the trapezius muscle H‐reflex and M‐wave. Methods: Sixteen healthy subjects were studied on 2 consecutive days. Trapezius muscle H‐reflexes were evoked by electrical stimulation of the C3/4 cervical nerves; M‐waves were evoked by electrical stimulation of the accessory nerve. Relative reliability was estimated by intraclass correlation coefficients (ICC_2,1). Absolute reliability was estimated by computing the standard error of measurement (SEM) and the smallest real difference (SRD). Bland–Altman plots were constructed to detect any systematic bias. Results: Variables showed substantial to excellent relative reliability (ICC = 0.70–0.99). The relative SEM ranged from 1.4% to 34.8%; relative SRD ranged from 3.8% to 96.5%. No systematic bias was present in the data. Conclusions: The amplitude and latency of the trapezius muscle H‐reflex and M‐wave in healthy young subjects can be measured reliably across days. Muscle Nerve 52 : 1066–1071, 2015     

Relationship between physical performance and quality of life in Charcot‐Marie‐Tooth disease: a pilot study

Charcot‐Marie‐Tooth (CMT) is a rare inherited peripheral neuropathy in which quality of life (QoL) is reduced compared with the general population. This paper investigates the relationship between QoL and physical performance in people with CMT with the aim of identifying avenues for future research into rehabilitation strategies. Cross‐sectional data was obtained from 10 participants (5 men, 5 women, age 46 ± 13 years, height 1.7 ± 0.1 m, body mass 77 ± 17 kg) with CMT (CMT1A n = 5; CMT‐X n = 3; unknown genetic origin n = 2). Participants were evaluated for QoL, falls efficacy (FES), balance, mobility, muscle strength, and power. Physical component score (PCS) of the Short Form‐36 (SF‐36) was significantly and directly related to higher leg press power (r = 0.75, p = 0.02). Better FES scores were significantly related to faster habitual gait speed (r = ?0.70, p = 0.02), left hip abduction, and seated row strength (r = ?0.68, p = 0.03; r = ?0.73, p = 0.03, respectively). Future research should aim to substantiate these preliminary findings in a larger cohort and investigate whether interventions targeting muscle strength and power can improve QoL and mobility outcomes in people with CMT.     

A Structured Clinical Interview for Kleptomania (SCI‐K): preliminary validity and reliability testing

Kleptomania presents difficulties in diagnosis for clinicians. This study aimed to develop and test a DSM‐IV‐based diagnostic instrument for kleptomania. To assess for current kleptomania the Structured Clinical Interview for Kleptomania (SCI‐K) was administered to 112 consecutive subjects requesting psychiatric outpatient treatment for a variety of disorders. Reliability and validity were determined. Classification accuracy was examined using the longitudinal course of illness. The SCI‐K demonstrated excellent test‐retest (Phi coefficient = 0.956 (95% CI = 0.937, 0.970)) and inter‐rater reliability (phi coefficient = 0.718 (95% CI = 0.506, 0.848)) in the diagnosis of kleptomania. Concurrent validity was observed with a self‐report measure using DSM‐IV kleptomania criteria (phi coefficient = 0.769 (95% CI = 0.653, 0.850)). Discriminant validity was observed with a measure of depression (point biserial coefficient = −0.020 (95% CI = −0.205, 0.166)). The SCI‐K demonstrated both high sensitivity and specificity based on longitudinal assessment. The SCI‐K demonstrated excellent reliability and validity in diagnosing kleptomania in subjects presenting with various psychiatric problems. These findings require replication in larger groups, including non‐psychiatric populations, to examine their generalizability. Copyright © 2006 John Wiley & Sons, Ltd.     

Repeatability,consistency, and accuracy of hand‐held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults

Introduction: Hand‐held dynamometry (HHD) is commonly used to measure ankle plantarflexion strength but has variable reliability measuring higher forces. Fixed HHD is suggested to improve reliability. We, therefore, compared the reliability, consistency, and accuracy of measuring plantarflexion strength. Methods: Plantarflexion strength was measured in 25 healthy individuals with fixed HHD and HHD alone. Intraclass correlation coefficients (ICC_2,2), SEM, minimal detectable change, and Spearman correlation coefficients were calculated to assess inter‐trial repeatability, consistency, agreement, and accuracy. Results: Both methods were repeatable (ICC_2,2 0.96 to 0.98) and highly correlated (Spearman rho = 0.815; P < 0.01). Fixed HHD produced significantly higher force outputs. HHD alone provided more consistent force values. Conclusions: Both methods of measuring ankle plantarflexion force were reliable. Force measured with fixed HHD will likely be more accurate for adults and individuals with greater strength, while HHD alone will be more consistent for individuals with lower strength. Muscle Nerve 56 : 896–900, 2017     

Teaching program for the Unified Dyskinesia Rating Scale

The Unified Dyskinesia Rating Scale (UDysRS) has been introduced as a comprehensive rating tool for the evaluation of dyskinesias in Parkinson's disease (PD). To enhance a uniform application, we developed a DVD‐based training program with instructions, patient examples, and a certification exercise. For training on the objective assessment of dyskinesia, seventy PD patients spanning the gamut of dyskinesias (none to severe) were videotaped during four tasks of daily living (speaking, drinking from a cup, putting on a coat, and walking). Dyskinesia severity in seven body parts was rated by 20 international movement disorder specialists using the UDysRS for impairment. Each task was also rated for disability. Inter‐rater reliability was assessed with generalized weighted kappa and intraclass correlation coefficients. For the teaching program, examples of each severity level and each body part were selected based on the criterion that they received a uniform rating (± 1 point) by at least 75% of the raters. For the certification exercise, four cases were selected to represent the four quartiles of overall objective UDysRS scores to reflect slight, mild, moderate, and severe dyskinesia. Each selection was based on the highest inter‐rater reliability score for that quartile (minimum kappa or intraclass correlation coefficient = 0.6). UDysRS ranges for certification were calculated based on the 95% confidence interval. The teaching program lasts 41 min, and the certification exercise requires 10 min (total 51 min). This training program, based on visual examples of dyskinesia and anchored in scores generated by movement disorder experts is aimed at increasing homogeneity of ratings among and within raters and centers. Large‐scale multicenter randomized clinical trials of dyskinesia treatment are strengthened by a uniform standard of scale application. © 2009 Movement Disorder Society     

Validation of the Italian version of the Charcot‐Marie‐Tooth disease Pediatric Scale

The Charcot‐Marie‐Tooth disease Pediatric Scale (CMTPedS) is a Rasch‐built clinical outcome measure of disease severity. It is valid, reliable, and responsive to change for children and adolescents aged 3 to 20 years. The aim of this study was to translate and validate an Italian version of the CMTPedS using a validated framework of transcultural adaptation. The CMTPedS (Italian) was translated and culturally adapted from source into Italian by two experts in CMT with good English language proficiency. The two translations were reviewed by a panel of experts in CMT. The agreed provisional version was back translated into English by a professional translator. The definitive Italian version was developed during a consensus teleconference by the same panel. CMT patients were assessed with the final version of the outcome measure and a subset had a second assessment after 2 weeks to evaluate test‐retest reliability. Seventeen patients with CMT aged 5 to 20 years (eight female) were evaluated with the CMTPedS (Italian), and test‐retest was performed in three patients. The CMTPedS (Italian) showed a high test‐retest reliability. No patient had difficulty in completing the scale. The instructions for the different items were clearly understood by clinicians and therefore the administration of the outcome measure was straight forward and easily understood by the children assessed. The CMTPedS (Italian) will be used for clinical follow‐up and in clinical research studies in the Italian population. The data is fully comparable to that obtained from the English language version.     

The unified huntington's disease rating scale for advanced patients: Validation and follow‐up study

The Unified Huntington's Disease Rating Scale (UHDRS) adequately measures decline in patients at early and moderate stages of Huntington's disease (HD). In patients with advanced HD, floor effects hamper the evaluation, thus calling for an adjusted scale. We designed the UHDRS‐For Advanced Patients (UHDRS‐FAP) to improve longitudinal assessment of patients at the advanced disease stage. Sixty‐nine patients with a Total Functional Capacity score ≤ 5 were recruited in France and the Netherlands. Among them, 45 patients were followed longitudinally (mean ± standard deviation, 1.6 ± 1.2 years) with the UHDRS‐FAP; 30 patients also were assessed with the UHDRS. In cross‐sectional analyses, the psychometric properties and inter‐rater reliability of the scale were evaluated. Longitudinal analyses were used to evaluate the sensitivity to decline of the UHDRS‐FAP compared with the UHDRS. Internal consistency was higher for motor (0.84) and cognitive (0.91) scores than for somatic (0.70) and behavioral (0.49) scores. Inter‐rater reliability was ≥ 0.88 for all scores. The somatic score, which was specific to the UHDRS‐FAP, declined over time along with motor and cognitive performance on both scales. Although performance with the two scales was correlated, the UHDRS‐FAP appeared to be more sensitive to change and was the only scale that detected decline in patients with a Total Functional Capacity score ≤ 1. Neither scale detected a significant decline in behavioral scores. The results indicate that the UHDRS‐FAP is reliable and more sensitive to change than the original UHDRS for cognitive and motor domains. It offers items that are relevant for daily care. Behavioral scores tended to decline, but this may reflect the decline in patients' communicative abilities. © 2013 International Parkinson and Movement Disorder Society     

Parkinson's disease‐cognitive rating scale: A new cognitive scale specific for Parkinson's disease

Cognitive defects associated with cortical pathology may be a marker of dementia in Parkinson's disease (PD). There is a need to improve the diagnostic criteria of PD dementia (PDD) and to clarify the cognitive impairment patterns associated with PD. Current neuropsychological batteries designed for PD are focused on fronto‐subcortical deficits but are not sensitive for cortical dysfunction. We developed a new scale, the Parkinson's Disease‐Cognitive Rating Scale (PD‐CRS), that was designed to cover the full spectrum of cognitive defects associated with PD. We prospectively studied 92 PD patients [30 cognitively intact (CogInt), 30 mild cognitive impairment (MCI), 32 PDD] and 61 matched controls who completed the PD‐CRS and neuropsychological tests assessing the cognitive domains included in the PD‐CRS. Acceptability, construct validity, reliability, and the discriminative properties of the PD‐CRS were examined. The PD‐CRS included items assessing fronto‐subcortical defects and items assessing cortical dysfunction. Construct validity, test‐retest and inter‐rater reliability of PD‐CRS total scores showed an intraclass correlation coefficient >0.70. The PD‐CRS showed an excellent test accuracy to diagnose PDD (sensitivity 94%, specificity 94%). The PD‐CRS total scores and confrontation naming item scores‐assessing “cortical” dysfunction—independently differentiated PDD from non‐demented PD. Alternating verbal fluency and delayed verbal memory independently differentiated the MCI group from both controls and CogInt. The PD‐CRS appeared to be a reliable and valid PD‐specific battery that accurately diagnosed PDD and detected subtle fronto‐subcortical deficits. Performance on the PD‐CRS showed that PDD is characterized by the addition of cortical dysfunction upon a predominant and progressive fronto‐subcortical impairment. © 2008 Movement Disorder Society     

The Prudhoe Cognitive Function Test, a scale to assess cognitive function in adults with Down's syndrome: inter-rater and test–retest reliability

Background The Prudhoe Cognitive Function Test (PCFT) was designed to measure cognitive function in subjects with all degrees of intellectual disability (ID) and to be administered by non‐specialist raters. The aim of the present study was to measure the test–retest and inter‐rater reliability of the PCFT. Methods Three raters, one a specialist and two non‐specialists, administered the PCFT to 14 subjects with Down's syndrome on two occasions separated by 4 weeks. Results The intra‐class correlation coefficients (ICCs) between the rater pairs (n = 3) were 0.99, 0.99 and 0.98 (P < 0.01). Floor effects were recorded for two items. The ICC for test–retest reliability was 0.99 (P < 0.01). Conclusions The PCFT is a highly reliable instrument when used by either specialist or non‐specialist raters. It has excellent temporal stability.     

Chronic inflammatory demyelinating polyneuropathy disease activity status: recommendations for clinical research standards and use in clinical practice

Defining long‐term outcomes in chronic inflammatory demyelinating polyneuropathy (CIDP) has been complicated by varying definitions of treatment response and differing scales measuring impairment or disability. An expert panel was convened to devise a CIDP Disease Activity Status (CDAS) and to classify long‐term outcome by applying it to 106 patients with a consensus diagnosis of CIDP. Sixty of these cases were graded blindly by three independent reviewers to assess inter‐rater reliability. The mean duration of follow‐up was 6.4 years (range, 3 months–23 years). Eleven percent of patients were classified as cured (stable examination and off treatment for ≥5 years), 20% were in remission (stable and off treatment for <5 years), 44% had stable active disease but required ongoing therapy for at least 1 year, 7% were improving after recent initiation of therapy, and 18% had unstable active disease (treatment naïve or treatment refractory). Excellent inter‐rater reliability was observed (kappa scores: 0.93–0.97; p < 0.0001). The CDAS is considered a simple and reproducible tool to classify patients with CIDP according to disease activity and treatment status that can be applied easily in practice and potentially to select patients for clinical trials.     

Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy

Introduction: The test–retest reliability of the Modified Hammersmith Functional Motor Scale (MHFMS) in children with spinal muscular atrophy (SMA) ≤30 months of age was assessed. The age at which typically developing children (TD) achieve maximum MHFMS scores was also studied. Methods: Twenty‐two children with SMA type II [mean age (SD) = 20 (5) months, range 9–30 months) were tested twice using the MHFMS. Twenty‐five TD children [mean age (SD) = 18 (7) months, range 9–30 months) were tested once. Results: The average difference between MHFMS scores for SMA children was 0.18 [first assessment: mean (SD) = 12.8 (9.8); second assessment: mean (SD) = 13.0 (8.8)]. Reliability was excellent (ICC_1,3 = 0.96, SEM 1.86). TD participants had MHFMS scores ranging from 36 to 40 [mean (SD) = 39.2 (1.2)] and achieved maximum test scores at 12 months of age. Discussion: MHFMS scores in young children with SMA type II showed excellent test–retest stability. This suggests that the MHFMS can be used reliably in this younger population for clinical trials and follow‐up. Muscle Nerve, 2011     

Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS

To develop a brief ataxia rating scale (BARS) for use by movement disorder specialists and general neurologists. Current ataxia rating scales are cumbersome and not designed for clinical practice. We first modified the International Cooperative Ataxia Rating Scale (ICARS) by adding seven ataxia tests (modified ICARS, or MICARS), and observed only minimally increased scores. We then used the statistics package R to find a five‐test subset in MICARS that would correlate best with the total MICARS score. This was accomplished first without constraints and then with the clinical constraint requiring one test each of Gait, Kinetic Function‐Arm, Kinetic Function‐Leg, Speech, and Eye Movements. We validated these clinical constraints by factor analysis. We then validated the results in a second cohort of patients; evaluated inter‐rater reliability in a third cohort; and used the same data set to compare BARS with the Scale for the Assessment and Rating of Ataxia (SARA). Correlation of ICARS with the seven additional tests that when added to ICARS form MICARS was 0.88. There were 31,481 five‐test subtests (48% of possible combinations) that had a correlation with total MICARS score of ≥0.90. The strongest correlation of an unconstrained five‐test subset was 0.963. The clinically constrained subtest validated by factor analysis, BARS, had a correlation with MICARS‐minus‐BARS of 0.952. Cronbach alpha for BARS and SARA was 0.90 and 0.92 respectively; and inter‐rater reliability (intraclass correlation coefficient) was 0.91 and 0.93 respectively. BARS is valid, reliable, and sufficiently fast and accurate for clinical purposes. © 2009 Movement Disorder Society     

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children,adolescents, and young adults with Charcot‐Marie‐Tooth disease

Long‐term studies of Charcot‐Marie‐Tooth (CMT) disease across the entire lifespan require stable endpoints that measure the same underlying construct (e.g., disability). The aim of this study was to assess the relationship between the CMT Pediatric Scale (CMTPedS) and the adult CMT Neuropathy Score (CMTNSv2) in 203 children, adolescents, and young adults with CMT. There was a moderate curvilinear correlation between the CMTPedS and the CMTNSv2 (Spearman's rho ρ = 0.716, p < 0.0001), although there appears to be a floor effect of the CMTNSv2 in patients with a milder CMT phenotype. Univariate analyses indicate that the relationship between the CMTPedS and CMTNSv2 scores improves with worsening disease severity and advancing age. Although one universal scale throughout life would be ideal, our data supports the transition from the CMTPedS in childhood to the CMTNSv2 in adulthood as a continuum of measuring lifelong disability in patients with CMT.