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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

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Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia

Tjitske F Lawerman1, Rick Brandsma1, Natalia M Maurits1

  • 1Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Developmental Medicine and Child Neurology
|September 19, 2019
PubMed

Insights

Accurate recognition of early-onset ataxia (EOA) in children is challenging, especially differentiating it from developmental coordination disorder (DCD). Validated EOA features improved diagnostic consensus, aiding distinction from central hypotonia.

Area of Science:

  • Pediatric Neurology
  • Neurodevelopmental Disorders
  • Movement Disorders

Background:

  • Accurate phenotypic recognition of early-onset ataxia (EOA) is crucial for timely diagnosis and management.
  • Distinguishing EOA from other developmental conditions like developmental coordination disorder (DCD) and central hypotonia presents diagnostic challenges.
  • Understanding the specific motor features that differentiate these conditions is essential for improving diagnostic accuracy.

Purpose of the Study:

  • To assess the accuracy of phenotypic recognition of early-onset ataxia (EOA) compared to developmental coordination disorder (DCD) and central hypotonia.
  • To evaluate the impact of scientifically validated EOA features on improving phenotypic consensus among clinicians.
  • To analyze the motor phenotype characteristics, including Scale for Assessment and Rating of Ataxia (SARA) scores, in children with EOA, DCD, and central hypotonia.

Main Methods:

  • Inclusion of 32 children (4-17 years) diagnosed with EOA, DCD, or central hypotonia.
  • Independent phenotypic and quantitative assessment (SARA) of motor behavior by three pediatric neurologists using videotaped samples.
  • Analysis of phenotypic interobserver agreement, homogeneity, SARA (sub)score profiles, and the effect of validated EOA features on consensus.

Main Results:

  • Phenotypic homogeneity was observed in 8/11 EOA, 2/10 DCD, and 1/11 central hypotonia cases.
  • Reliable distinction was achieved between EOA and central hypotonia (22/22), but not consistently between EOA and DCD (16/21).
  • Incorporating validated EOA features increased phenotypic consensus from 16 to 18 patients.

Conclusions:

  • The motor phenotype reliably distinguishes early-onset ataxia (EOA) from central hypotonia but not from developmental coordination disorder (DCD).
  • Overlapping SARA scores and differing SARA subscore profiles characterize the phenotypic overlap between EOA and DCD.
  • Utilizing scientifically validated EOA features can enhance diagnostic consensus and improve the accurate identification of EOA in pediatric populations.
Abstract

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