Ataxia rating scales are age‐dependent in healthy children

Brandsma, R.; Spits, Anne H; Kuiper, M. J.; Lunsing, R.J.; Burger, Huibert; Kremer, H.P.H.; Sival, Deborah A

doi:10.1111/dmcn.12369

Cited by 65 publications

(125 citation statements)

References 18 publications

(37 reference statements)

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“…This may be explained partly by the fact that fine and gross motor skills improve during Age at ICARS1 evaluation neurodevelopment, as has been reported in previous studies, evaluating healthy children [9,10]. In our sample, not only the younger patients but also the older ones, improved clinically.…”

Section: Discussionsupporting

confidence: 76%

Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)

Serrano

Cuadras

Diego

et al. 2017

European Journal of Paediatric Neurology

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Section: Discussionsupporting

confidence: 76%

Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)

Serrano

Cuadras

Diego

et al. 2017

European Journal of Paediatric Neurology

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“…9 As previously indicated in adults, 15 a sample size of 36 participants scored by three observers achieves 90% power to detect an intraclass correlation coefficient of 0.8, or over the null hypothesis of a moderate intraclass correlation coefficient of 0.6 (0.85 published for adults), 15 using a significance level (alpha) of 0.05.…”

Section: Study Sizementioning

confidence: 88%

“…9 Offline assessments involved both phenotypic and quantitative SARA scores, with an intermediate time interval of at least 6 months (see text below).…”

Section: Assessmentmentioning

confidence: 99%

“…In young children, it is wellknown that the physiological maturation of the nervous system can cause a phenotypic 'overlap' between immature motor behaviour and initiating signs of ataxia. [8][9][10] Furthermore, in young children, EOA concurs frequently with features of other movement disorders, 11-13 resulting in 'mixed' ataxic phenotypes. Finally, the EOA concept involves a large range in the age at onset, implicating the presence of heterogeneous underlying aetiologies, which are likely to differ between young children and adults.…”

mentioning

confidence: 99%

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Reliability of phenotypic early‐onset ataxia assessment: a pilot study

Lawerman

Brandsma

Geffen

et al. 2015

Develop Med Child Neuro

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AIM To investigate the interobserver agreement on phenotypic early-onset ataxia (EOA) assessment and to explore whether the Scale for Assessment and Rating of Ataxia (SARA) could provide a supportive marker.METHOD Seven movement disorder specialists provided independent phenotypic assessments of potentially ataxic motor behaviour in 40 patients (mean age 15y [range 5-34]; data derived from University Medical Center Groningen medical records 1998-2012). We determined interobserver agreement by Fleiss' kappa. Furthermore, we compared percentage SARA subscores ([subscore/total score]9100%) between 'indisputable' (primary ataxia recognition by at least six observers) and 'mixed' (ataxia recognition, unfulfilling 'indisputable' criteria) EOA phenotypes.RESULTS Agreement on phenotypic EOA assessment was statistically significant (p<0.001), but of moderate strength (Fleiss' kappa=0.45; 95% CI 0.38-0.51). During mild disease progression, percentage SARA gait subscores discriminated between 'indisputable' and 'mixed' EOA phenotypes. In patients with percentage SARA gait subscores >30%, primary ataxia was more frequently present than in those with subscores <30% (p=0.001).INTERPRETATION Among movement-disorder professionals from different disciplines, interobserver agreement on phenotypic EOA recognition is of limited strength. SARA gait subscores can provide a supportive discriminative marker between EOA phenotypes. Hopefully, future phenotypic insight will contribute to the inclusion of uniform, high-quality data in international EOA databases.Ataxia is described by an impairment of the smooth performance of goal-directed movements, 1 resulting in impaired 'unconscious' decision making about balance, speed, force, and direction of intended movements. [2][3][4] Intentional motor behaviour may thus be affected by ataxic limb movements (intention and action tremor, dysdiadochokinesis, rebound, hypermetria), trunk movements (with staggering, swaying, and titubation), eye movements (nystagmus, saccades, overand undershoot), and speech (dysarthria, dysrhythmia). The underlying neuropathology involves abnormal spinal afferent input and/or cerebellar dysfunction, hampering multisensory fine-tuning and timing of motor output. In the literature, the concept of 'early-onset ataxia' (EOA) is used to define the initiation of ataxia before the 25th year of life. 5,6 The estimated EOA prevalence is about 14.6 per 100 000.7 As implicated by the large range in the age at onset, there is an enormous variety in underlying (genetic and metabolic) disorders. In this perspective, international EOA databases aim to (1) provide insight in the longitudinal disease course, (2) identify new genes, (3) design new treatment strategies, and (4) characterize uniform and transparent markers for disease monitoring. In the absence of a criterion standard, EOA patient inclusion will depend on subjective phenotypic recognition of ataxia. This process is complex for several reasons. In young children, it is wellknown that the physiological maturation of th...

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“…Sensitivity to longitudinal change of SARA was evaluated in adult FRDA subjects by Marelli and coll. [8] Furthermore, although there are no validated scales for childhood, SARA is reliably applicable to children beyond the age of 10 years and proved to be more suitable for long-term quantitative ataxia assessment from child- to adulthood in comparison to ICARS and BARS[9]. However, the complexity of the neurological phenotype of FRDA due to the intricate interplay between cerebellar degeneration, somatosensory loss and muscle atrophy leads to explore the specific functional and gait changes over time more deeply and with the use of sensitive and objective measures.…”

Section: Introductionmentioning

confidence: 99%

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich’s Ataxia: A One-Year Longitudinal Study

et al. 2016

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Friedreich’s ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich’s ataxia using Gait Analysis and the Scale for the Assessment and Rating of Ataxia (SARA). We assessed the spectrum of changes over 12 months of the gait characteristics and the relationship between clinical and instrumental evaluations. We enrolled 11 genetically confirmed patients affected by Friedreich’s ataxia in this study together with 13 normally developing age-matched subjects. Eight patients completed a 12-month follow-up under the same protocol. By comparing the gait parameters of Friedreich’s ataxia with the control group, we found significant differences for some relevant indexes. In particular, the increased knee and ankle extension in stance revealed a peculiar biomechanical pattern, which correlated reliably with SARA Total, Gait and Sitting scores. The knee pattern showed its consistency also at the follow-up: Knee extension increased from 6.8±3.5° to -0.5±3.7° and was significantly correlated with the SARA total score. This feature anticipated the loss of the locomotor function in two patients. In conclusion, our findings demonstrate that the selective and segmental analysis of kinetic/kinematic features of ataxic gait, in particular the behavior of the knee, provides sensitive measures to detect specific longitudinal and functional alterations, more than the SARA scale, which however has proved to be a reliable and practical assessment tool. Functional outcomes measures integrated by instrumental evaluation increase their sensitivity, reliability and suitability for the follow-up of the disease progression and for the application in clinical trials and in rehabilitative programs.

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Ataxia rating scales are age‐dependent in healthy children

Cited by 65 publications

References 18 publications

Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)

Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)

Reliability of phenotypic early‐onset ataxia assessment: a pilot study

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich’s Ataxia: A One-Year Longitudinal Study

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