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Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in
Dajie Marschik-Zhang1,2,3, Jun Wang4, Xiushu Shen4
1Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, 37075 Göttingen, Germany.
Insights
Infants with Prader-Willi syndrome (PWS) and cerebral palsy (CP) show similar low motor scores but distinct movement patterns. Frog-leg and mantis-hand postures were noted in PWS infants, aiding in deep phenotyping.
Area of Science:
- Neuroscience
- Developmental Pediatrics
- Genetics
Background:
- The Prechtl general movements assessment (GMA) is increasingly used beyond cerebral palsy (CP) prediction.
- Understanding early neuromotor repertoires is crucial for various diagnostic groups.
- Prader-Willi syndrome (PWS) is a genetic disorder affecting development.
Purpose of the Study:
- To profile neuromotor functions in infants with Prader-WWS syndrome (PWS).
- To compare PWS infants' motor skills with infants with CP and those with inconspicuous outcomes (IOs).
- To identify potential PWS-specific general movements patterns.
Main Methods:
- Prospective assessment of 54 infants using the detailed GMA, specifically the motor optimality score-revised (MOS-R).
- Cross-condition comparisons to analyze within-group and between-group neuromotor variations.
- Detailed analysis of motor patterns, including specific postures.
Main Results:
- Infants with PWS and CP exhibited similarly low MOS-R scores.
- Distinct neuromotor patterns were observed between the PWS and CP groups.
- Frequent frog-leg and mantis-hand postures were identified in the PWS group, but no PWS-specific GMA pattern emerged.
Conclusions:
- While PWS and CP share low motor optimality scores, their specific movement characteristics differ.
- In-depth neuromotor analysis aids in understanding PWS and improving diagnosis and individualized therapy.
- This research contributes to deep phenotyping for precision medicine in PWS and other developmental conditions.
Abstract:
With the increasing worldwide application of the Prechtl general movements assessment (GMA) beyond its original field of the early prediction of cerebral palsy (CP), substantial knowledge has been gained on early neuromotor repertoires across a broad spectrum of diagnostic groups. Here, we aimed to profile the neuromotor functions of infants with Prader-Willi syndrome (PWS) and to compare them with two other matched groups. One group included infants with CP; the other included patients who were treated at the same clinic and turned out to have inconspicuous developmental outcomes (IOs). The detailed GMA, i.e., the motor optimality score-revised (MOS-R), was used to prospectively assess the infants' (N = 54) movements. We underwent cross-condition comparisons to characterise both within-group similarities and variations and between-group distinctions and overlaps in infants' neuromotor functions. Although infants in both the PWS and the CP groups scored similarly low on MOS-R, their motor patterns were different. Frog-leg and mantis-hand postures were frequently seen in the PWS group. However, a PWS-specific general movements pattern was not observed. We highlight that pursuing in-depth knowledge within and beyond the motor domain in different groups has the potential to better understand different conditions, improve accurate diagnosis and individualised therapy, and contribute to deep phenotyping for precision medicine.
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