Neurodevelopmental difficulties negatively affect health‐related quality of life in children with idiopathic clubfoot

Lööf, Elin; Andriesse, Hanneke; Broström, Eva; André, Marie; Böhm, Stephanie; Bölte, Sven

doi:10.1111/apa.14709

Cited by 8 publications

(4 citation statements)

References 28 publications

(76 reference statements)

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“…Indeed, recent evidence raised the hypothesis that isolated clubfoot is not only a disorder of the musculoskeletal system but may be associated with neurodevelopmental difficulties. [21][22][23] Despite the reason behind this association remains to be determined, we can speculate that clubfoot could be a part of genetic syndromes, evidenced by the present study.…”

Section: Discussionmentioning

confidence: 53%

“…The remaining 38 had isolated clubfoot and were included in this study. For those, the median MA was 26 (range: 20-46) years old, and the median GA at diagnosis was 22 (range: [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] weeks. Through the trio-ES analysis, pathogenic or LP variants were detected in four of 38 fetuses (Table 1) within the following genes: BRPF1, ANKRD17, FLNA and KIF1A.…”

Section: Resultsmentioning

confidence: 99%

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Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results

Liu

Zhang

et al. 2022

Prenatal Diagnosis

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Objective To examine the diagnostic yield of exome sequencing (ES) in singleton pregnancies with isolated fetal clubfoot. Methods Clinical data from singleton pregnancies with a sonographic diagnosis of isolated clubfoot and ES results between 2018 and 2021 were retrospectively obtained from a single referral medical center. The recorded data include maternal age, gestational age at sonographic diagnosis, the indication for genetic testing, ES results, and pregnancy outcomes. Results During the study period, 38 fetuses were prenatally diagnosed with isolated clubfoot by ultrasound and underwent ES after the copy number variant analysis was non‐diagnostic. Through the trio‐ES analysis, pathogenic or likely pathogenic variants were detected in 4 of 38 (10.5%) with the following genes: BRPF1, ANKRD17, FLNA, and KIF1A. All are de novo with three of autosomal dominant inheritance and one of X‐linked recessive inheritance. Conclusion Sonographic diagnosis of clubfoot, even isolated, increases the risk for monogenic syndromes. Exome sequencing should be an option for genetic investigation for such pregnancies.

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Section: Discussionmentioning

confidence: 53%

Section: Resultsmentioning

confidence: 99%

Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results

Liu

Zhang

et al. 2022

Prenatal Diagnosis

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“…A study by Smith et al found that children who underwent surgery to treat clubfoot reported more pain than children who underwent Ponseti treatment; however, both groups were functional and had a high quality of life [27]. Causes of decreased quality of life in these patients include prolonged use of braces and consequent inability to play and anxiety and discomfort caused by thinking of others about how they walk [5,28].…”

Section: Discussionmentioning

confidence: 99%

Clinical, Radiological, Pedobarographic, and Quality of Life Outcomes of the Ponseti Treatment for Clubfoot: A Prospective Study from Iran

Vahidi

Shamabadi

Nabian

et al. 2021

Preprint

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Background: Talipes equinovarus, also known as clubfoot, is a congenital anomaly that affects one newborn per 1000 live births. Its standard treatment strategy is the Ponseti casting management. This study aims to report the long-term outcomes of the Ponseti treatment in Iran.Methods: A prospective cohort study was enrolled to evaluate clinical outcomes, radiological results, pedobarographic measurements, and quality of life after the Ponseti treatment in patients with clubfoot who were followed for at least five years.Results: In this study, 25 clubfeet of 18 patients were included. Significant reductions in Pirani, Dimeglio, and CAP scores, improved ankle dorsiflexion, and acceptable pedobarographic indices were observed in this study. From the radiological evaluation indices, the calcaneal pitch and lateral talus-first metatarsal angles were significantly reduced. The quality of life of patients after five years of treatment was favorable, which was better in females. This study showed that the results of the Ponseti treatment remained acceptable after five years.Conclusions: The Ponseti management for clubfoot in the long term appears to maintain significant improvements. However, the rate of recurrence – albeit without disruption to daily activities - cannot be ignored.

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“…Study 3: Lööf et al (2018), 20 Neurodevelopmental Difficulties Negatively Affect Health-related Quality of Life (HRQoL) in Children with Idiopathic Clubfoot.…”

Section: Introductionmentioning

confidence: 99%

Additional challenges in children with idiopathic clubfoot: Is it just the foot?

Lööf

2019

Journal of Children's Orthopaedics

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Purpose Treatment of idiopathic clubfoot (IC) has improved since the introduction of the Ponseti method. However, relapses are still common and primarily related to non-adherence to the brace regime. Our hypothesis was that IC might be more than just a structural deformity. Based on three studies, the aim of this paper was to provide an overview of findings regarding additional challenges within IC. Methods In total, 153 children with IC and 137 control children participated in the studies. The first study assessed gross motor skills in six motor tasks using the Clubfoot Assessment Protocol. The second and third studies surveyed neurodevelopmental difficulties (NDDs) using the Five to Fifteen (FTF) questionnaire and health-related quality of life (HRQoL) using the EuroQol-5D youth. Results A high percentage of gross motor deviations were found in children with IC compared with controls, and those correlated poorly with clubfoot severity and foot movement. Children with IC had a higher prevalence of NDDs on the FTF compared with the control group, including the domains: motor skills, perception and language. One-third of children with IC were defined as at risk of developmental disorders. In this subgroup, parents were less satisfied with the outcome of clubfoot treatment and the children reported worse HRQoL than those without NDDs. Conclusion The findings suggest additional challenges in children with IC, such as NDDs, apparently affecting both clubfoot treatment outcome and HRQoL. Thus, awareness of these challenges could be vital to further optimize treatment and support, for example, with regards to brace adherence. Level of Evidence II - Prognostic study

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Neurodevelopmental difficulties negatively affect health‐related quality of life in children with idiopathic clubfoot

Cited by 8 publications

References 28 publications

Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results

Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results

Clinical, Radiological, Pedobarographic, and Quality of Life Outcomes of the Ponseti Treatment for Clubfoot: A Prospective Study from Iran

Additional challenges in children with idiopathic clubfoot: Is it just the foot?

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