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

ABSTRACT:

Aims

To investigate the accuracy of phenotypic early-onset ataxia (EOA) recognition among developmental conditions, including developmental coordination disorder (DCD) and hypotonia of central nervous system origin, and the effect of scientifically validated EOA features on changing phenotypic consensus.

Method

We included 32 children (4-17y) diagnosed with EOA (n=11), DCD (n=10), and central hypotonia (n=11). Three paediatric neurologists independently assessed videotaped motor behaviour phenotypically and quantitatively (using the Scale for Assessment and Rating of Ataxia [SARA]). We determined: (1) phenotypic interobserver agreement and phenotypic homogeneity (percentage of phenotypes with full consensus by all three observers according to the underlying diagnosis); (2) S

SUBMITTER: Lawerman TF 

PROVIDER: S-EPMC6916203 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature