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- Marschik-Zhang, D, et al.
(författare)
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Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy
- 2023
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Ingår i: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 12:3
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Tidskriftsartikel (refereegranskat)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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| 3. |
- Aizawa, CYP, et al.
(författare)
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Neurodevelopment in the third year of life in children with antenatal ZIKV-exposure
- 2021
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Ingår i: Revista de saude publica. - : Universidade de Sao Paulo, Agencia USP de Gestao da Informacao Academica (AGUIA). - 1518-8787 .- 0034-8910. ; 55, s. 15-
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Tidskriftsartikel (refereegranskat)abstract
- We report cognitive, language and motor neurodevelopment, assessed by the Bayley-III test, in 31 non-microcephalic children at age 3 with PCR-confirmed maternal Zika virus exposure (Rio de Janeiro, 2015–2016). Most children had average neurodevelopmental scores, however, 8 children (26%) presented delay in some domain. Language was the most affected: 7 children (22.6%) had a delay in this domain (2 presenting severe delay). Moderate delay was detected in the cognitive (3.2%) and motor (10%) domains. Maternal illness in the third trimester of pregnancy and later gestational age at birth were associated with higher Bayley-III scores. Zika-exposed children require long-term follow-up until school age.
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| 4. |
- Barbosa, VM, et al.
(författare)
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Clinical Implications of the General Movement Optimality Score: Beyond the Classes of Rasch Analysis
- 2021
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Ingår i: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 10:5
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Tidskriftsartikel (refereegranskat)abstract
- This article explores the clinical implications of the three different classes drawn from a Rasch analysis of the general movements optimality scores (GMOS) of 383 infants. Parametric analysis of the class membership examines four variables: age of assessment, brain injury presence, general movement patterns, and 2-year-old outcomes. GMOS separated infants with typical (class 3) from atypical development, and further separated cerebral palsy (class 2) from other neurodevelopmental disorders (class 1). Each class is unique regarding its quantitative and qualitative representations on the four variables. The GMOS has strong psychometric properties and provides a quantitative measure of early motor functions. The GMOS can be confidently used to assist with early diagnosis and predict distinct classes of developmental outcomes, grade motor behaviors, and provide a solid base to study individual general movement developmental trajectories.
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| 6. |
- Bartl-Pokorny, KD, et al.
(författare)
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Vocalisation Repertoire at the End of the First Year of Life: An Exploratory Comparison of Rett Syndrome and Typical Development
- 2022
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Ingår i: Journal of developmental and physical disabilities. - : Springer Science and Business Media LLC. - 1056-263X .- 1573-3580. ; 3534:16, s. 1053-1069
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Tidskriftsartikel (refereegranskat)abstract
- Rett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based on home video recordings, we analysed the vocalisations between 9 and 11 months of age of three female infants with typical RTT and compared them to three age-matched typically developing (TD) female controls. The video material of the infants had a total duration of 424 min with 1655 infant vocalisations. For each month, we (1) calculated the infants’ canonical babbling ratios with CBRUTTER, i.e., the ratio of number of utterances containing canonical syllables to total number of utterances, and (2) classified their pre-linguistic vocalisations in three non-canonical and four canonical vocalisation subtypes. All infants achieved the milestone of canonical babbling at 9 months of age according to their canonical babbling ratios, i.e. CBRUTTER ≥ 0.15. We revealed overall lower CBRsUTTER and a lower proportion of canonical pre-linguistic vocalisations consisting of well-formed sounds that could serve as parts of target-language words for the RTT group compared to the TD group. Further studies with more data from individuals with RTT are needed to study the atypicalities in the pre-linguistic vocalisation repertoire which may portend the later deficits in spoken language that are characteristic features of RTT.
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