Wheelchair skills training improves power mobility and participation in young people with cerebral palsy.

AIM: To explore the effect of a 4-week structured power wheelchair skills training programme (WSTP) intervention on mobility skills and participation in children and young people (CYP) with cerebral palsy (CP). METHOD: This was a one-group, repeated-measures study; baseline, intervention, and retention phases, each lasting 4 weeks, were used. Twelve participants (three females, nine males) with a mean age of 15 years 11 months (SD = 3 years 6 months) classified in Gross Motor Function Classification System levels IV and V participated in the study. To be included in the study, individuals had to be aged 6 to 21 years and currently using a power wheelchair. Participants received 12 WSTP training sessions of 45 minutes, 3 times per week. Power mobility skills were assessed using the Wheelchair Skills Test (WST) before baseline, before the intervention, after the intervention, and at the follow-up; mobility-related participation was assessed with the Canadian Occupational Performance Measure (COPM). Generalized mixed models with Bonferroni correction were used to assess the differences between the assessment points (p < 0.05). RESULTS: Statistical analysis showed a 10.4% (12.5) increase in WST total scores (p < 0.001) after the intervention compared to before the intervention, and a 1-point (0.9) increase in the COPM performance subdomain (p = 0.002). INTERPRETATION: Power mobility skills and mobility-related participation improved after a 4-week WSTP intervention in CYP with CP. Thus, task-based power mobility skills training based on the WSTP, and in line with individualized needs and capabilities, taking place in a natural environment, should be recommended. Power mobility skills training needs to be structured and individualized; the training interventions must consider the individual, the task, and the environment.

Visual, perceptual functions, and functional vision in children with unilateral cerebral palsy compared to children with neurotypical development.

AIM: To investigate visual (perceptual) function and functional vision in children with unilateral cerebral palsy (CP) and children with neurotypical development (NTD). METHOD: Fifty children with unilateral CP (mean age 11 years 11 months, SD 2 years 10 months, range 7-15 years; 27 males; 26 left-sided unilateral CP; Manual Ability Classification System [MACS] levels: I, 27; II, 16; III, 7) and 50 age- and sex-matched children with NTD participated in a cross-sectional study. Visual acuity, stereoacuity, and visual-perceptual functions were measured with standardized clinical tests. Functional vision was assessed in children with unilateral CP with the Flemish cerebral visual impairment questionnaire (FCVIQ). Group differences were investigated with Mann-Whitney U tests, Kruskal-Wallis tests, and the relative effect sizes r, η2 respectively. Correlations between visual assessments and the FCVIQ were investigated with Spearman's rank correlations. RESULTS: The total group of children with unilateral CP showed reduced visual acuity compared with children with NTD (p = 0.02, r = 0.23). Only children with left-sided unilateral CP scored lower than those with NTD on stereoacuity (p < 0.01, r = 0.36). Children with right/left-sided unilateral CP scored significantly lower than those with NTD on visual-perceptual functions (p = 0.001-0.02), with large effect sizes on visuomotor integration and visual closure (both r = 0.57). Children with unilateral CP classified in MACS level III showed significantly lower scores on visual-perceptual assessments than children classified in MACS level I. Stereoacuity and visual-perceptual functions negatively correlated with the FCVIQ, with the highest association with visual (dis)interest and anxiety-related behaviours. INTERPRETATION: Multi-level visual profiling is warranted in the clinical intake of children with unilateral CP to detect visual impairments that further compromise their level of functioning.

Hospital-based surveillance of children with cerebral palsy in Suriname: The Suriname cerebral palsy register.

AIM: To describe the aetiological risk factors, clinical characteristics, access to rehabilitation, and educational status of children with cerebral palsy (CP) in Suriname. METHOD: Hospital-based surveillance of children with CP aged younger than 18 years was conducted at the Academic Hospital Paramaribo, Suriname (known as the Suriname CP Register [SUR-CPR]). Data were collected on sociodemographic characteristics, aetiological risk factors, clinical characteristics, rehabilitation, and educational status. Registry data on aetiological risk factors were compared with available national prevalence rates in Suriname. Descriptive statistics were reported. RESULTS: Between August 2018 and March 2020, 82 children with CP (mean [SD] age 5 years 10 months [3 years 10 months]) attending the Academic Hospital Paramaribo were registered in the SUR-CPR. The mean (SD) age at diagnosis was 5 years 5 months (4 years 1 month). Spastic CP was predominant in 90.8% of children and 58.8% were classified in Gross Motor Function Classification System levels III to V. Overall, 43.9% had preterm birth compared with 13.9% reported nationally (p < 0.001) and 61.6% had birth-related complications compared with 15% reported nationally (p < 0.001). Additionally, 39.1% had birth asphyxia and 23.2% had early feeding difficulties. Sixty-two percent were admitted to the neonatal intensive care unit, 54.0% of whom required ventilation. Most children (82.5%) had CP acquired pre- or perinatally and 17.5% had CP acquired postneonatally. Seventeen percent had never received any rehabilitation services, and 31.9% of the school-aged children were not enrolled in any education system. INTERPRETATION: The high burden of known aetiological risk factors, delayed diagnosis, and severe functional impairment among children with CP registered at the Academic Hospital Paramaribo is concerning. Public health interventions targeting early diagnosis and early intervention could improve the functional outcome of children with CP in Suriname.

The relation between visual functions, functional vision, and bimanual function in children with unilateral cerebral palsy.

BACKGROUND: Accurate visual information is needed to guide and perform efficient movements in daily life. AIMS: To investigate the relation between visual functions, functional vision, and bimanual function in children with unilateral cerebral palsy (uCP). METHODS AND PROCEDURES: In 49 children with uCP (7-15 y), we investigated the relation between stereoacuity (Titmus Stereo Fly test), visual perception (Test of Visual Perceptual Skills), visuomotor integration (Beery Buktenica Test of Visual-Motor Integration) and functional vision (Flemish cerebral visual impairment questionnaire) with bimanual dexterity (Tyneside Pegboard Test), bimanual coordination (Kinarm exoskeleton robot, Box opening task), and functional hand use (Children's Hand-use Experience Questionnaire; Assisting Hand Assessment) using correlations (rs) and elastic-net regularized regressions (d). OUTCOMES AND RESULTS: Visual perception correlated with bimanual coordination (rs=0.407-0.436) and functional hand use (rs=0.380-0.533). Stereoacuity (rs=-0.404), visual perception (rs=-0.391 to -0.620), and visuomotor integration (rs=-0.377) correlated with bimanual dexterity. Functional vision correlated with functional hand use (rs=-0.441 to -0.458). Visual perception predicted bimanual dexterity (d=0.001-0.315), bimanual coordination (d=0.004-0.176), and functional hand use (d=0.001-0.345), whereas functional vision mainly predicted functional hand use (d=0.001-0.201). CONCLUSIONS AND IMPLICATIONS: Visual functions and functional vision are related to bimanual function in children with uCP highlighting the importance of performing extensive visual assessment to better understand children's difficulties in performing bimanual tasks. WHAT THIS PAPER ADDS: Previous findings showed that up to 62 % of children with unilateral cerebral palsy (uCP) present with visual impairment, which can further compromise their motor performance. However, the relation between visual and motor function has hardly been investigated in this population. This study makes a significant contribution to the literature by comprehensively investigating the multi-level relation between the heterogenous spectrum of visual abilities and bimanual function in children with uCP. We found that mainly decreased visual perception was related to decreased bimanual dexterity, bimanual coordination, and functional hand use while impairments in functional vision were only related to decreased functional hand use. Additionally, elastic-net regression models showed that visual assessments can predict bimanual function in children with uCP, however, effect sizes were only tiny to small. With our study, we demonstrated a relation between visual functions and bimanual function in children with uCP. These findings suggest the relevance of thoroughly examining visual functions in children with uCP to identify the presence of visual impairments that may further compromise their bimanual function.

Subtle microstructural alterations in white matter tracts involved in socio-emotional processing after very preterm birth.

Children born very preterm (VPT, < 32 weeks of gestation) have an increased risk of developing socio-emotional difficulties. Possible neural substrates for these socio-emotional difficulties are alterations in the structural connectivity of the social brain due to premature birth. The objective of the current study was to study microstructural white matter integrity in VPT versus full-term (FT) born school-aged children along twelve white matter tracts involved in socio-emotional processing. Diffusion MRI scans were obtained from a sample of 35 VPT and 38 FT 8-to-12-year-old children. Tractography was performed using TractSeg, a state-of-the-art neural network-based approach, which offers investigation of detailed tract profiles of fractional anisotropy (FA). Group differences in FA along the tracts were investigated using both a traditional and complementary functional data analysis approach. Exploratory correlations were performed between the Social Responsiveness Scale (SRS-2), a parent-report questionnaire assessing difficulties in social functioning, and FA along the tract. Both analyses showed significant reductions in FA for the VPT group along the middle portion of the right SLF I and an anterior portion of the left SLF II. These group differences possibly indicate altered white matter maturation due to premature birth and may contribute to altered functional connectivity in the Theory of Mind network which has been documented in earlier work with VPT samples. Apart from reduced social motivation in the VPT group, there were no significant group differences in reported social functioning, as assessed by SRS-2. We found that in the VPT group higher FA values in segments of the left SLF I and right SLF II were associated with better social functioning. Surprisingly, the opposite was found for segments in the right IFO, where higher FA values were associated with worse reported social functioning. Since no significant correlations were found for the FT group, this relationship may be specific for VPT children. The current study overcomes methodological limitations of previous studies by more accurately segmenting white matter tracts using constrained spherical deconvolution based tractography, by applying complementary tractometry analysis approaches to estimate changes in FA more accurately, and by investigating the FA profile along the three components of the SLF.

A deep learning model for brain segmentation across pediatric and adult populations.

Automated quantification of brain tissues on MR images has greatly contributed to the diagnosis and follow-up of neurological pathologies across various life stages. However, existing solutions are specifically designed for certain age ranges, limiting their applicability in monitoring brain development from infancy to late adulthood. This retrospective study aims to develop and validate a brain segmentation model across pediatric and adult populations. First, we trained a deep learning model to segment tissues and brain structures using T1-weighted MR images from 390 patients (age range: 2-81 years) across four different datasets. Subsequently, the model was validated on a cohort of 280 patients from six distinct test datasets (age range: 4-90 years). In the initial experiment, the proposed deep learning-based pipeline, icobrain-dl, demonstrated segmentation accuracy comparable to both pediatric and adult-specific models across diverse age groups. Subsequently, we evaluated intra- and inter-scanner variability in measurements of various tissues and structures in both pediatric and adult populations computed by icobrain-dl. Results demonstrated significantly higher reproducibility compared to similar brain quantification tools, including childmetrix, FastSurfer, and the medical device icobrain v5.9 (p-value< 0.01). Finally, we explored the potential clinical applications of icobrain-dl measurements in diagnosing pediatric patients with Cerebral Visual Impairment and adult patients with Alzheimer's Disease.

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.

Most people with intellectual disability (ID) do not receive a molecular diagnosis following genetic testing. To identify new etiologies of ID, we performed a genetic association analysis comparing the burden of rare variants in 41,132 noncoding genes between 5,529 unrelated cases and 46,401 unrelated controls. RNU4-2, which encodes U4 small nuclear RNA, a critical component of the spliceosome, was the most strongly associated gene. We implicated de novo variants among 47 cases in two regions of RNU4-2 in the etiology of a syndrome characterized by ID, microcephaly, short stature, hypotonia, seizures and motor delay. We replicated this finding in three collections, bringing the number of unrelated cases to 73. Analysis of national genomic diagnostic data showed RNU4-2 to be a more common etiological gene for neurodevelopmental abnormality than any previously reported autosomal gene. Our findings add to the growing evidence of spliceosome dysfunction in the etiologies of neurological disorders.

Does somatosensory discrimination therapy alter sensorimotor upper limb function differently compared to motor therapy in children and adolescents with unilateral cerebral palsy: study protocol for a randomized controlled trial.

BACKGROUND: Besides motor impairments, up to 90% of the children and adolescents with unilateral cerebral palsy (uCP) present with somatosensory impairments in the upper limb. As somatosensory information is of utmost importance for coordinated movements and motor learning, somatosensory impairments can further compromise the effective use of the impaired upper limb in daily life activities. Yet, intervention approaches specifically designated to target these somatosensory impairments are insufficiently investigated in children and adolescents with uCP. Therefore, the aim of this randomized controlled trial (RCT) is to compare the effectiveness of somatosensory discrimination therapy and dose-matched motor therapy to improve sensorimotor upper limb function in children and adolescents with uCP, who experience somatosensory impairments in the upper limb. We will further explore potential behavioral and neurological predictors of therapy response. METHODS: A parallel group, evaluator-blinded, phase-II, single-center RCT will be conducted for which 50 children and adolescents with uCP, aged 7 to 15 years, will be recruited. Participants will be randomized to receive 3 weekly sessions of 45 minutes of either somatosensory discrimination therapy or upper limb motor therapy for a period of 8 weeks. Stratification will be performed based on age, manual ability, and severity of tactile impairment at baseline. Sensorimotor upper limb function will be evaluated at baseline, immediately after the intervention and after 6 months follow-up. The primary outcome measure will be bimanual performance as measured with the Assisting Hand Assessment. Secondary outcomes include a comprehensive test battery to objectify somatosensory function and measures of bimanual coordination, unimanual motor function, and goal attainment. Brain imaging will be performed at baseline to investigate structural brain lesion characteristics and structural connectivity of the white matter tracts. DISCUSSION: This protocol describes the design of an RCT comparing the effectiveness of somatosensory discrimination therapy and dose-matched motor therapy to improve sensorimotor upper limb function in children and adolescents with uCP. The results of this study may aid in the selection of the most effective upper limb therapy, specifically for children and adolescents with tactile impairments. TRIAL REGISTRATION: ClinicalTrials.gov (NCT06006065). Registered on August 8, 2023.