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  • 1
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    Online Resource
    Parenting a child with Marfan syndrome: Distress and everyday problems
    Wiley ; 2021
    In:  American Journal of Medical Genetics Part A Vol. 185, No. 1 ( 2021-01), p. 50-59
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 185, No. 1 ( 2021-01), p. 50-59
    Abstract: Marfan syndrome (MFS) is a multisystemic, autosomal dominant connective tissue disorder that occurs de novo in 25%. In many families, parent and child(ren) are affected, which may increase distress in parents. To assess distress, 42 mothers (29% MFS) and 25 fathers (60% MFS) of 43 affected children, completed the validated screening‐questionnaire Distress thermometer for parents of a chronically ill child , including questions on overall distress (score 0–10; ≥4 denoting “clinical distress”) and everyday problems (score 0–36). Data were compared to 1,134 control‐group‐parents of healthy children. Mothers reported significantly less overall distress (2, 1–4 vs. 3, 1–6; p = .049; r = −.07) and total everyday problems (3, 0–6 vs. 4, 1–8; p = .03; r = −.08) compared to control‐group‐mothers. Mothers without MFS reported significantly less overall distress compared to mothers with MFS, both of a child with MFS (1, 0–4 vs. 3.5, 2–5; p = .039; r = −.17). No significant differences were found between the father‐groups, nor between the group of healthy parents of an affected child living together with an affected partner compared to control‐group‐parents. No differences in percentages of clinical distress were reported between mothers and control‐group‐mothers (33 vs. 42%); fathers and control‐group‐fathers (28 vs. 32%); nor between the other groups. Distress was not associated with the children's MFS characteristics. Concluding, parents of a child with MFS did not show more clinical distress compared to parents of healthy children. However, clinical distress was reported in approximately one‐third and may increase in case of acute medical complications. We advise monitoring distress in parents of a child with MFS to provide targeted support.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v185.1
    DOI: 10.1002/ajmg.a.61906
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 2
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    Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships
    Wiley ; 2023
    In:  American Journal of Medical Genetics Part A Vol. 191, No. 2 ( 2023-02), p. 479-489
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 191, No. 2 ( 2023-02), p. 479-489
    Abstract: To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN] ) on growth, and compare MFS‐related height increase across populations. Height and weight data of individuals with MFS aged 0–21 years were retrospectively collected. Generalized Additive Models for Location, Scale and Shape (GAMLSS) was used for growth chart modeling. To investigate genotype–phenotype relationships, FBN1 variant type was included as an independent variable in height‐for‐age and BMI‐for‐age models. MFS‐related height increase was compared with that of previous MFS growth studies from the United States, Korea, and France. Height and weight data of 389 individuals with MFS were included (210 males). Height‐for‐age, BMI‐for‐age, and weight‐for‐height charts reflected the tall and slender MFS habitus throughout childhood. Mean increase in height of individuals with MFS compared with the general Dutch population was significantly lower than in the other three MFS populations compared to their reference populations. FBN1‐ HI variants were associated with taller height in both sexes, and decreased BMI in females ( p ‐values 〈 0.05). This Dutch MFS growth study broadens the notion that genetic background and MFS variant type (HI/DN) influence tall and slender stature in MFS.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v191.2
    DOI: 10.1002/ajmg.a.63047
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 3
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    Botulinum neurotoxin treatment in children with cerebral palsy: validation of a needle placement protocol using passive muscle stretching and relaxing
    Wiley ; 2016
    In:  Developmental Medicine & Child Neurology Vol. 58, No. 12 ( 2016-12), p. 1281-1287
    Details
    In: Developmental Medicine & Child Neurology, Wiley, Vol. 58, No. 12 ( 2016-12), p. 1281-1287
    Abstract: The passive muscle stretching and relaxing (PMSR) needle placement protocol is reliable and has a high positive predictive value. PMSR is easy to learn and little experience is needed to reliably perform the PMSR needle placement protocol. Video Podcast: https://youtu.be/KFzHJdyiw_Q
    Type of Medium: Online Resource
    ISSN: 0012-1622 , 1469-8749
    URL: Issue
    URL: Article
    DOI: 10.1111/dmcn.2016.58.issue-12
    DOI: 10.1111/dmcn.13176
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2016
    detail.hit.zdb_id: 2001992-0
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  • 4
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    An exploratory study of clinical characteristics and gait features of adolescents with hypermobility disorders
    Elsevier BV ; 2023
    In:  Gait & Posture Vol. 100 ( 2023-02), p. 222-229
    Details
    In: Gait & Posture, Elsevier BV, Vol. 100 ( 2023-02), p. 222-229
    Type of Medium: Online Resource
    ISSN: 0966-6362
    URL: Article
    DOI: 10.1016/j.gaitpost.2023.01.001
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2023
    detail.hit.zdb_id: 1500471-5
    SSG: 31
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  • 5
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    Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs
    Springer Science and Business Media LLC ; 2019
    In:  European Journal of Pediatrics Vol. 178, No. 12 ( 2019-12), p. 1883-1892
    Details
    In: European Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 178, No. 12 ( 2019-12), p. 1883-1892
    Abstract: Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participation), disability (limitations, restrictions), contextual factors and support needs, we interviewed 19 adolescents with Marfan syndrome. Audio-recordings were transcribed, coded and analysed using thematic analysis. Identified themes were “difficulties in keeping up with peers” and “being and feeling different from peers”. Furthermore, an adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and its contextual factors. Adolescents perceived problems in keeping up with peers in school, sports, leisure and friendships/relationships, and they could not meet work requirements. Moreover, participants perceived to differ from peers due to their appearance and disability. Contextual factors: coping with Marfan syndrome, self-esteem/image, knowledge about Marfan syndrome, support from family/friends/teachers, ability to express needs and peer-group acceptation acted individually as barrier or facilitator for identified themes. Conclusion : Adolescents with Marfan syndrome perceived limitations and restrictions in (physical) functioning. They perceived problems in keeping up with peers and perceived to differ from peers due to their appearance and disability. This warrants awareness and tailored physical, psychosocial, educational and environmental support programmes to improve (physical) functioning and empowerment of adolescents with Marfan syndrome. What is known: • Marfan syndrome is a hereditary connective tissue disorder. • Marfan syndrome affects multiple systems. What is new: • Adolescents with Marfan syndrome perceive (1) problems in keeping up with peers in school, sports, leisure, friendships/relationships and work (2) to differ from peers due to their appearance and disability. • An adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and contextual factors.
    Type of Medium: Online Resource
    ISSN: 0340-6199 , 1432-1076
    URL: Article
    DOI: 10.1007/s00431-019-03469-7
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2019
    detail.hit.zdb_id: 2647723-3
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  • 6
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    Physical activity and physical fitness in children with heritable connective tissue disorders
    Frontiers Media SA ; 2023
    In:  Frontiers in Pediatrics Vol. 11 ( 2023-3-17)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 11 ( 2023-3-17)
    Abstract: Health problems in patients with heritable connective tissue disorders (HCTD) are diverse and complex and might lead to lower physical activity (PA) and physical fitness (PF). This study aimed to investigate the PA and PF of children with heritable connective tissue disorders (HCTD). Methods PA was assessed using an accelerometer-based activity monitor (ActivPAL) and the mobility subscale of the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). PF was measured in terms of cardiovascular endurance using the Fitkids Treadmill Test (FTT); maximal hand grip strength, using hand grip dynamometry (HGD) as an indicator of muscle strength; and motor proficiency, using the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOTMP-2). Results A total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8–15.8) years, diagnosed with Marfan syndrome (MFS), n  = 37, Loeys-Dietz syndrome (LDS), n  = 6, and genetically confirmed Ehlers-Danlos (EDS) syndromes, n  = 13 (including classical EDS n  = 10, vascular EDS n  = 1, dermatosparaxis EDS n  = 1, arthrochalasia EDS n  = 1), participated. Regarding PA, children with HCTD were active for 4.5 (IQR 3.5–5.2) hours/day, spent 9.2 (IQR 7.6–10.4) hours/day sedentary, slept 11.2 (IQR 9.5–11.5) hours/day, and performed 8,351.7 (IQR 6,456.9–1,0484.6) steps/day. They scored below average (mean (standard deviation [SD]) z -score −1.4 (1.6)) on the PEDI-CAT mobility subscale. Regarding PF, children with HCTD scored well below average on the FFT (mean (SD) z -score −3.3 (3.2)) and below average on the HGD (mean (SD) z -score −1.1 (1.2)) compared to normative data. Contradictory, the BOTMP-2 score was classified as average (mean (SD) z -score.02 (.98)). Moderate positive correlations were found between PA and PF (r(39) = .378, p   & lt; .001). Moderately sized negative correlations were found between pain intensity and fatigue and time spent actively (r(35) = .408, p   & lt; .001 and r(24) = .395 p   & lt; .001, respectively). Conclusion This study is the first to demonstrate reduced PA and PF in children with HCTD. PF was moderately positively correlated with PA and negatively correlated with pain intensity and fatigue. Reduced cardiovascular endurance, muscle strength, and deconditioning, combined with disorder-specific cardiovascular and musculoskeletal features, are hypothesized to be causal. Identifying the limitations in PA and PF provides a starting point for tailor-made interventions.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    DOI: 10.3389/fped.2023.1057070
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2711999-3
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  • 7
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    Marfan syndrome in childhood: parents’ perspectives of the impact on daily functioning of children, parents and family; a qualitative study
    Springer Science and Business Media LLC ; 2019
    In:  BMC Pediatrics Vol. 19, No. 1 ( 2019-12)
    Details
    In: BMC Pediatrics, Springer Science and Business Media LLC, Vol. 19, No. 1 ( 2019-12)
    Type of Medium: Online Resource
    ISSN: 1471-2431
    URL: Article
    DOI: 10.1186/s12887-019-1612-6
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2019
    detail.hit.zdb_id: 2041342-7
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  • 8
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    Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health
    MDPI AG ; 2021
    In:  Genes Vol. 12, No. 6 ( 2021-05-28), p. 831-
    Details
    In: Genes, MDPI AG, Vol. 12, No. 6 ( 2021-05-28), p. 831-
    Abstract: Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p 〈 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p 〈 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p 〈 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p 〈 0.001, rs = 0.68), pain (p 〈 0.001, rs = 0.64) and general health (p 〈 0.001, rs = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes12060831
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527218-4
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  • 9
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    Effects of Upper-Extremity Surgery on Manual Performance of Children and Adolescents with Cerebral Palsy : A Multidisciplinary Approach Using Shared Decision-Making
    Ovid Technologies (Wolters Kluwer Health) ; 2018
    In:  Journal of Bone and Joint Surgery Vol. 100, No. 16 ( 2018-8-15), p. 1416-1422
    Details
    In: Journal of Bone and Joint Surgery, Ovid Technologies (Wolters Kluwer Health), Vol. 100, No. 16 ( 2018-8-15), p. 1416-1422
    Abstract: Little is known about the effects of upper-extremity surgery on the manual performance of children and adolescents with cerebral palsy (CP). This clinical cohort study describes our experience with patient selection based on multidisciplinary assessment and shared decision-making and the effects of upper-extremity surgery on manual performance and patient-relevant outcomes. Methods: All patients (up to 20 years of age) with CP referred to our multidisciplinary team for evaluation for upper-extremity surgery between July 2011 and May 2017 were included. Suitability for upper-extremity surgery was assessed with comprehensive, multidisciplinary screening, and the decision to proceed with surgery was made together with the patient. Individual patient-relevant goals were identified with the Canadian Occupational Performance Measure (COPM); perceived independence in performing bimanual activities at home was assessed with the ABILHAND-Kids tool, and perceived quality of use of the affected hand during daily activities was assessed with a visual analog scale (VAS). The quality of use of the affected hand during bimanual performance was measured with the Assisting Hand Assessment (AHA), and gross manual dexterity was evaluated with the Box and Block Test (BBT). All baseline assessments were repeated at an average of 9 months after the surgery. Results: Of 66 patients assessed by the multidisciplinary upper-extremity-surgery team, 44 were considered eligible for upper-extremity surgery. Of these patients, 39 (mean age and standard deviation [SD] , 14.9 ± 2.10 years, 87% with unilateral CP, and 72% at Manual Ability Classification System [MACS] level II) underwent upper-extremity surgery and were evaluated in the pre-post study. All outcomes improved significantly after upper-extremity surgery, with average improvements of 3.1 ± 1.6 points in the COPM-Performance (COPM-P) score (p 〈 0.001), 3.3 ± 2.1 points in the COPM-Satisfaction (COPM-S) score (p 〈 0.001), 1.5 ± 1.2 logits in the ABILHAND score (p 〈 0.001), 2.4 ± 1.9 cm in the VAS score (p 〈 0.001), 6.7 ± 4.2 units in the AHA score (p 〈 0.001), and 2.2 ± 5.0 blocks/minute on the BBT (p = 0.021). The improvement in the COPM-P, COPM-S, ABILHAND, VAS, AHA, and BBT scores was clinically meaningful in 80%, 77%, 55%, 62%, 71%, and 31% of the patients, respectively. Conclusions: Careful assessment of eligibility for upper-extremity surgery, based on multidisciplinary screening and shared decision-making, resulted in a clinically relevant improvement in patient-specific functional and/or cosmetic goals and manual performance after upper-extremity surgery in most patients with CP. Level of Evidence: Therapeutic Level IV . See Instructions for Authors for a complete description of levels of evidence.
    Type of Medium: Online Resource
    ISSN: 0021-9355 , 1535-1386
    URL: Article
    DOI: 10.2106/JBJS.17.01382
    RVK:
    XA 52200.A
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2018
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  • 10
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    Effects of upper extremity surgery on activities and participation of children with cerebral palsy: a systematic review
    Wiley ; 2020
    In:  Developmental Medicine & Child Neurology Vol. 62, No. 1 ( 2020-01), p. 21-27
    Details
    In: Developmental Medicine & Child Neurology, Wiley, Vol. 62, No. 1 ( 2020-01), p. 21-27
    Abstract: Avaliar e sintetizar a evidência dos efeitos de cirurgia do membro superior (CMS) sobre as atividades e participação de crianças com paralisia cerebral (PC). Método As bases de dados MEDLINE, Embase, e PsycINFO foram pesquisadas quanto a publicações até setembro de 2018. Foram incluídos estudos comparativos com ou sem grupos de comparação concorrentes ou séries de casos com resultados pré/pós‐teste com um tamanho amostral mínimo de 10 participantes; aqueles que reportaram os efeitos de CMS com tempo de acompanhamento de pelo menos 5 meses; aqueles incluindo pacientes com diagnóstico de PC e até 20 anos de idade; e aqueles que usaram um instrumento válido para avaliar atividade. O risco de viés foi avaliado usando o instrumento RVENA‐I (Risco de viés em estudos não aleatorizados – de intervenções) e a avaliação da qualidade foi realizada com a Pontuação de Recomendações, Avaliação, Desenvolvimento e Mensuração. Resultados Doze estudos, envolvendo 310 crianças e adolescentes, foram incluídos. A capacidade e percepção do paciente em utilizar as mãos e realizar atividades (mensuradas com a Avaliação do Hospital Shriners para a extremidade superior, a Avaliação da Mão Auxiliar, e a Classificação Funcional de House) melhoraram significantemente após CMS. A qualidade da evidência foi muito baixa para os resultados de atividade de interesse. Interpretação A evidência muito baixa proíbe recomendações sobre o uso de CMS para guiar a prática clínica. Mais estudos comparativos de alta qualidade são necessários para obter mais informações a respeito dos efeitos de CMS nas atividades e participação.
    Type of Medium: Online Resource
    ISSN: 0012-1622 , 1469-8749
    URL: Issue
    URL: Article
    DOI: 10.1111/dmcn.v62.1
    DOI: 10.1111/dmcn.14315
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2001992-0
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