Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy
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...
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| Format: | Article |
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MDPI AG
2023-01-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/3/784 |
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| author | Dajie Marschik-Zhang Jun Wang Xiushu Shen Xiaoyun Zhu Herong Gao Hong Yang Peter B. Marschik |
| author_facet | Dajie Marschik-Zhang Jun Wang Xiushu Shen Xiaoyun Zhu Herong Gao Hong Yang Peter B. Marschik |
| author_sort | Dajie Marschik-Zhang |
| collection | DOAJ |
| description | 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’ (<i>N</i> = 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. |
| first_indexed | 2024-03-11T09:39:04Z |
| format | Article |
| id | doaj.art-95f717d51f38475cb2c7eec9beeb28fd |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T09:39:04Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-95f717d51f38475cb2c7eec9beeb28fd2023-11-16T17:07:09ZengMDPI AGJournal of Clinical Medicine2077-03832023-01-0112378410.3390/jcm12030784Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral PalsyDajie Marschik-Zhang0Jun Wang1Xiushu Shen2Xiaoyun Zhu3Herong Gao4Hong Yang5Peter B. Marschik6Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, 37075 Göttingen, GermanyDepartment of Rehabilitation, Children’s Hospital, Fudan University, Shanghai 201102, ChinaDepartment of Rehabilitation, Children’s Hospital, Fudan University, Shanghai 201102, ChinaDepartment of Rehabilitation, Children’s Hospital, Fudan University, Shanghai 201102, ChinaDepartment of Rehabilitation, Children’s Hospital, Fudan University, Shanghai 201102, ChinaDepartment of Rehabilitation, Children’s Hospital, Fudan University, Shanghai 201102, ChinaChild and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, 37075 Göttingen, GermanyWith 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’ (<i>N</i> = 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.https://www.mdpi.com/2077-0383/12/3/784deep phenotypingcross-condition comparisoninfantneuromotor functionmotor developmentPrechtl general movements assessment (GMA) |
| spellingShingle | Dajie Marschik-Zhang Jun Wang Xiushu Shen Xiaoyun Zhu Herong Gao Hong Yang Peter B. Marschik Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy Journal of Clinical Medicine deep phenotyping cross-condition comparison infant neuromotor function motor development Prechtl general movements assessment (GMA) |
| title | Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy |
| title_full | Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy |
| title_fullStr | Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy |
| title_full_unstemmed | Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy |
| title_short | Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy |
| title_sort | building blocks for deep phenotyping in infancy a use case comparing spontaneous neuromotor functions in prader willi syndrome and cerebral palsy |
| topic | deep phenotyping cross-condition comparison infant neuromotor function motor development Prechtl general movements assessment (GMA) |
| url | https://www.mdpi.com/2077-0383/12/3/784 |
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