Objective: Elbow flexion contractures are common complications of neonatal brachial plexus palsy, but evidence on how to treat these contractures is weak. This study compared the treatment of elbow... Show moreObjective: Elbow flexion contractures are common complications of neonatal brachial plexus palsy, but evidence on how to treat these contractures is weak. This study compared the treatment of elbow flexion contractures using a dynamic orthosis or serial circular casting. Methods: A randomized controlled trial was conducted with one-year follow-up. Children with an elbow flexion contracture of >= 30 degrees were treated with either a night-worn dynamic orthosis for one year or serial casting for four weeks followed by night splinting. For pragmatic reasons, some participants were included in an open part of this study, this group was also analyzed separately. Degree of contracture and goal attainment scaling was evaluated at baseline and after 8, 20 and 54 weeks. Results: 55 patients were analyzed in this trial, 32 of whom were randomized to treatment. At one-year follow-up of the randomized group, both dynamic splinting (median -8.5 degrees, interquartile range [IQR] -13.5, -5) and serial casting (median -11.0 degrees, IQR -16, -5) resulted in significant reduction of contracture (P < 0.001). The reduction was significantly greater with serial casting in the first 20 weeks, but not at one-year follow-up (P = 0.683). In the entire cohort, the individual functional goals had been reached in 24 out of 32 cases (80%) of dynamic splinting and 18 out of 23 cases (82%) of serial casting, respectively. Conclusion: The dynamic night orthosis is comparable to serial casting for treating elbow flexion contractures in children with brachial plexus birth injury. We recommend selecting one of these treatment modalities in close consultation with parents and patients. Show less
Coul, L.S. op de; Bleeker, S.; Groot, J.H. de; Nelissen, R.G.H.H.; Steenbeek, D. 2022
ObjectiveElbow flexion contractures are common complications of neonatal brachial plexus palsy, but evidence on how to treat these contractures is weak. This study compared the treatment of elbow... Show moreObjectiveElbow flexion contractures are common complications of neonatal brachial plexus palsy, but evidence on how to treat these contractures is weak. This study compared the treatment of elbow flexion contractures using a dynamic orthosis or serial circular casting.MethodsA randomized controlled trial was conducted with one-year follow-up. Children with an elbow flexion contracture of ≥30° were treated with either a night-worn dynamic orthosis for one year or serial casting for four weeks followed by night splinting. For pragmatic reasons, some participants were included in an open part of this study, this group was also analyzed separately. Degree of contracture and goal attainment scaling was evaluated at baseline and after 8, 20 and 54 weeks.Results55 patients were analyzed in this trial, 32 of whom were randomized to treatment. At one-year follow-up of the randomized group, both dynamic splinting (median −8.5°, interquartile range [IQR] −13.5, −5) and serial casting (median −11.0°, IQR −16, −5) resulted in significant reduction of contracture (P < 0.001). The reduction was significantly greater with serial casting in the first 20 weeks, but not at one-year follow-up (P = 0.683). In the entire cohort, the individual functional goals had been reached in 24 out of 32 cases (80%) of dynamic splinting and 18 out of 23 cases (82%) of serial casting, respectively.ConclusionThe dynamic night orthosis is comparable to serial casting for treating elbow flexion contractures in children with brachial plexus birth injury. We recommend selecting one of these treatment modalities in close consultation with parents and patients. Show less
Holst, M. van der; Steenbeek, D.; Pondaag, W.; Nelissen, R.G.H.H.; Vlieland, T.P.M.V. 2020
To investigate health-care use (HCU) and information needs of children aged 0-18 years with neonatal brachial plexus palsy (NBPP), a cross-sectional study was performed. Patients and/or parents... Show moreTo investigate health-care use (HCU) and information needs of children aged 0-18 years with neonatal brachial plexus palsy (NBPP), a cross-sectional study was performed. Patients and/or parents seen in our NBPP clinic were invited to complete a survey comprising questions on HCU due to NBPP and current information needs. Outcomes were described for three age-groups (0-1/2-9/10-18 years), based on follow-up status (early/late/no-discharge). Four hundred sixty-five parents/patients participated (59 in the 0-1, 226 in the 2-9, and 180 in the 10-18-year group). Two hundred ninety-three patients had C5-C6 lesions, 193 were discharged from follow-up, 83 of whom categorized as 'early discharged' (<1 year of age). Over the past year, 198 patients had contact with the expert team (49 in the 0-1, 81 in the 2-9, and 68 in the 10-18-year group) and 288 with at least one other health-care professional (53 in the 0-1, 133 in the 2-9, and 102 in the 10-18-year group). Of the 83 patients discharged early, 34 reported health-care use. Two hundred twenty-eight participants reported current information needs of whom 23 were discharged early. HCU and information needs of Dutch children with NBPP remains considerable even in children who were discharged. Stricter follow-up and information provision for these patients is needed. Show less
Sluijs, P.J. van der; Jansen, S.; Vergano, S.A.; Adachi-Fukuda, M.; Alanay, Y.; AlKindy, A.; ... ; Santen, G.W.E. 2019
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far... Show morePurpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.Methods: Clinicians entered clinical data in an extensive webbased survey.Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.Conclusion: There are only minor differences between ARID1BID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. Show less
Holst, M. van der; Groot, J.; Steenbeek, D.; Pondaag, W.; Nelissen, R.G.H.H.; Vlieland, T.P.M.V. 2018
