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Peer-reviewedCC BY-NC-NDNeurology. Genetics

Quantification of Neuromotor Control in STXBP1-Related Disorders With Wearable Sensors.

  • Julie M Orlando1,2
  • Bintou Bane2,3
  • Torrey Chisari2,3
  • Jan H Magielski2,3,4,5
  • Samuel R Pierce1,2
  • Kristin Girardi Cunningham1,2
  • Charlene Woo1,2
  • Sarah Tefft2,3,4
  • Joeylynn Nolan2,3
  • Sarah Mckeown Ruggiero2,3,4
  • Michael J Boland2
  • Jillian L McKee2,3,4,5,6
2 more authors
  • Ingo Helbig2,3,4,5,6
  • Laura A Prosser1,7
7 affiliations
  1. 1Division of Rehabilitation Medicine, Children's Hospital of Philadelphia, PA.
  2. 2Center for Epilepsy and Neurodevelopmental Disorders (ENDD), University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia.
  3. 3Division of Neurology, Children's Hospital of Philadelphia, PA.
  4. 4The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, PA.
  5. 5Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, PA.
  6. 6Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia; and.
  7. 7Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia.
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Abstract

Background and objectives

STXBP1-related disorders (STXBP1-RD) are a spectrum of neurodevelopmental conditions that present with motor impairments, which include involuntary movements, ataxia, and tremor that have been difficult to measure. The objective of this study was to use wearable sensors to characterize motor control abnormalities in individuals with STXBP1-RD, a spectrum of neurodevelopmental conditions that present with motor impairments affecting motor development.Methods

In this study, an exploratory analysis to quantify the clinical features of motor control impairment, including tremor, in 23 individuals with STXBP1-RD was conducted and compared these features with those of 18 typically developing control participants using inertial sensors during a reaching task. Clinical relevance of the sensor-derived metrics of motor control was evaluated in the context of traditional developmental clinical assessments collected during a prospective natural history study.Results

Individuals with STXBP1-RD demonstrated slower reaching time, decreased arm acceleration intensity, less smooth reaching, and tremor frequency characteristics consistent with an unstable or irregular rhythmic movement pattern. More than 65% of individuals with STXBP1-RD presented with tremor in our sample. Combining features from all 4 upper limb sensors predicted tremor with the highest accuracy (area under the curve = 0.87), and multiple motor control metrics were significantly related to developmental assessment scores with reaching duration having the strongest correlation.Discussion

Our study provides an understanding of motor control in a rare neurodevelopmental disorder and establishes a paradigm to quantify neuromotor control in individuals with developmental differences. Our observations demonstrate significant relations between motor control measures and developmental function, and a tremor prevalence that exceeds twofold what has been reported in historical, retrospective data sets.

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Cite

BibTeXRIS
BibTeX
@article{orlando2026quantification,
  title = {{Quantification of Neuromotor Control in STXBP1-Related Disorders With Wearable Sensors.}},
  author = {Julie M Orlando and Bintou Bane and Torrey Chisari and Jan H Magielski and Samuel R Pierce and Kristin Girardi Cunningham and Charlene Woo and Sarah Tefft and Joeylynn Nolan and Sarah Mckeown Ruggiero and Michael J Boland and Jillian L McKee and Ingo Helbig and Laura A Prosser},
  journal = {Neurology. Genetics},
  year = {2026},
  month = oct,
  doi = {10.1212/nxg.0000000000200439},
  url = {https://europepmc.org/article/MED/42921248},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Quantification of Neuromotor Control in STXBP1-Related Disorders With Wearable Sensors.
AU  - Julie M Orlando
AU  - Bintou Bane
AU  - Torrey Chisari
AU  - Jan H Magielski
AU  - Samuel R Pierce
AU  - Kristin Girardi Cunningham
AU  - Charlene Woo
AU  - Sarah Tefft
AU  - Joeylynn Nolan
AU  - Sarah Mckeown Ruggiero
AU  - Michael J Boland
AU  - Jillian L McKee
AU  - Ingo Helbig
AU  - Laura A Prosser
PY  - 2026
DA  - 2026/10/22
JO  - Neurology. Genetics
DO  - 10.1212/nxg.0000000000200439
UR  - https://europepmc.org/article/MED/42921248
AB  - Background and objectives  STXBP1-related disorders (STXBP1-RD) are a spectrum of neurodevelopmental conditions that present with motor impairments, which include involuntary movements, ataxia, and tremor that have been difficult to measure. The objective of this study was to use wearable sensors to characterize motor control abnormalities in individuals with STXBP1-RD, a spectrum of neurodevelopmental conditions that present with motor impairments affecting motor development.Methods  In this study, an exploratory analysis to quantify the clinical features of motor control impairment, including tremor, in 23 individuals with STXBP1-RD was conducted and compared these features with those of 18 typically developing control participants using inertial sensors during a reaching task. Clinical relevance of the sensor-derived metrics of motor control was evaluated in the context of traditional developmental clinical assessments collected during a prospective natural history study.Results  Individuals with STXBP1-RD demonstrated slower reaching time, decreased arm acceleration intensity, less smooth reaching, and tremor frequency characteristics consistent with an unstable or irregular rhythmic movement pattern. More than 65% of individuals with STXBP1-RD presented with tremor in our sample. Combining features from all 4 upper limb sensors predicted tremor with the highest accuracy (area under the curve = 0.87), and multiple motor control metrics were significantly related to developmental assessment scores with reaching duration having the strongest correlation.Discussion  Our study provides an understanding of motor control in a rare neurodevelopmental disorder and establishes a paradigm to quantify neuromotor control in individuals with developmental differences. Our observations demonstrate significant relations between motor control measures and developmental function, and a tremor prevalence that exceeds twofold what has been reported in historical, retrospective data sets.
SN  - 2376-7839
ER  -