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

Lööf, Elin

doi:10.1302/1863-2548.13.190076

Cited by 13 publications

(12 citation statements)

References 30 publications

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“…Some defects, such as clubfoot and polydactyly, can be corrected through surgery. Even so, body function and health‐related quality of life are still affected in most offspring after treatment 6,7 . The aetiology of limb defects is complicated.…”

Section: Introductionmentioning

confidence: 99%

Maternal periconceptional folic acid supplements use and fetus risk for limb defects

Zhang

Jin

Wang

et al. 2021

Paediatric Perinatal Epid

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Background Associations between the periconceptional folic acid only (FAO) or multiple micronutrients containing folic acid (MMFA) supplementation and risk for limb defects are inconsistent. Objective To explore the association between periconceptional folic acid supplements use and risk for limb defects, including clubfoot, polydactyly, syndactyly, and limb deficiencies. Methods Data were derived from a cohort based on a pregnancy registry in a district of Beijing, China, from 2013 to 2018. Information on maternal periconceptional FAO and MMFA supplementation was collected via face‐to‐face interviews at first trimester. Pregnancy outcomes including limb defects were ascertained in livebirths, stillbirths, and elective pregnancy terminations and were recorded into the system. Propensity score methods were used to adjust for potential confounders. Results A total of 63 969 women with a singleton delivery were included. The overall prevalence of limb defects was 47.5 per 10 000 (n = 63 969) singleton deliveries. Decreased prevalence of limb defects was found among FAO/MMFA users compared with women who did not take supplements (nonusers) (46.1 vs. 61.9 per 10 000 births, adjusted risk ratio [RR] 0.80, 95% confidence interval [CI] 0.56, 1.12). Compared with nonusers (n = 6462, 10.2%), women who took either FAO (n = 26 567, 42.0%) or MMFA (n = 30 259, 47.8%) had a lower risk for total clubfoot (RR 0.40, 95% CI 0.20, 0.84), and for isolated clubfoot (RR 0.41, 95% CI 0.17, 0.97). For other limb defects except clubfoot, FAO supplementation did not appear to be associated with reduced risk, while MMFA supplementation group had 30%‐50% reduced risks for other limb defects. A lower risk for limb defects or isolated limb defects was found with MMFA supplementation when FAO supplementation was used as a control. Conclusions Maternal periconceptional supplements with either FAO or MMFA had inverse association with clubfoot in offspring, and MMFA was associated with lower risk for isolated limb defects compared with FAO.

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Section: Introductionmentioning

confidence: 99%

Maternal periconceptional folic acid supplements use and fetus risk for limb defects

Zhang

Jin

Wang

et al. 2021

Paediatric Perinatal Epid

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“… 47 Recent studies have shown that there is a slightly higher prevalence of neurodevelopmental difficulties in children with isolated clubfoot which is also consistent with this observation. 48 …”

Section: Discussionmentioning

confidence: 99%

Rare andde novoduplications containingSHOXin clubfoot

et al. 2020

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IntroductionCongenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb development, including PITX1 and TBX4, have previously been shown to cause familial clubfoot, but much of the heritability remains unexplained.MethodsExome sequence data from 816 unrelated clubfoot cases and 2645 in-house controls were analysed using coverage data to identify rare CNVs. The precise size and location of duplications were then determined using high-density Affymetrix Cytoscan chromosomal microarray (CMA). Segregation in families and de novo status were determined using qantitative PCR.ResultsChromosome Xp22.33 duplications involving SHOX were identified in 1.1% of cases (9/816) compared with 0.07% of in-house controls (2/2645) (p=7.98×10−5, OR=14.57) and 0.27% (38/13592) of Atherosclerosis Risk in Communities/the Wellcome Trust Case Control Consortium 2 controls (p=0.001, OR=3.97). CMA validation confirmed an overlapping 180.28 kb duplicated region that included SHOX exons as well as downstream non-coding regions. In four of six sporadic cases where DNA was available for unaffected parents, the duplication was de novo. The probability of four de novo mutations in SHOX by chance in a cohort of 450 sporadic clubfoot cases is 5.4×10–10.ConclusionsMicroduplications of the pseudoautosomal chromosome Xp22.33 region (PAR1) containing SHOX and downstream enhancer elements occur in ~1% of patients with clubfoot. SHOX and regulatory regions have previously been implicated in skeletal dysplasia as well as idiopathic short stature, but have not yet been reported in clubfoot. SHOX duplications likely contribute to clubfoot pathogenesis by altering early limb development.

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“…Therefore, the validity of the measure in truly documenting functional deficits in the patient with a unilateral clubfoot or a less severe bilateral foot, may be suspect. Other researchers have also evaluated motor function ability in children initially treated with Ponseti casting (62,63). While Aulie et al reported 76% of patients with clubfoot treated either surgically or with Ponseti casting, were classified with normal motor abilities (62), Lӧӧf suggests global deficits that may affect a child's perception of their quality of life (63).…”

Section: Historymentioning

confidence: 99%

“…Other researchers have also evaluated motor function ability in children initially treated with Ponseti casting (62,63). While Aulie et al reported 76% of patients with clubfoot treated either surgically or with Ponseti casting, were classified with normal motor abilities (62), Lӧӧf suggests global deficits that may affect a child's perception of their quality of life (63). It is imperative to understand the objective of the assessment (global motor function or joint specific), when interpreting the results.…”

Section: Historymentioning

confidence: 99%

This is a narrative review of the functional evaluation of clubfoot treatment with gait analysis

Karol¹,

Jeans²

2021

Ann Transl Med

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Clinicians worldwide have embraced Ponseti's nonoperative approach in the treatment of clubfoot, primarily due to ubiquitous reports of successful outcomes. A crucial component in this measured success, has come from researchers assessing long-term physical function following nonoperative treatment.Gait analysis has been instrumental in objectively evaluating lower extremity kinematics and kinetics while plantar pressures demonstrate the load bearing patterns experienced in the foot. As technology improves, our ability to evaluate function can take place both in the laboratory setting, and in the community. For over 20 years, our institution has been studying the gait patterns of children treated for clubfoot. After adopting the nonoperative approach, we established a prospective research program that has allowed us to study functional outcomes in the very young walker, through growth to adolescents, and finally at skeletal maturity. We have seen over 450 children treated for clubfoot in the Movement Science Lab, for over 1,250 gait assessments over the span of this study. Early results in 105 children (154 feet) treated nonoperatively for clubfoot, showed 56% of children had normal sagittal plane ankle kinematics, however an incidence of 48% of Ponseti feet had increased dorsiflexion in stance phase, leading us to wonder if this was the result of the tenotomy. Intermediate follow up at age 5 years, showed that the incidence of increased dorsiflexion was reduced (24%) and ankle power did not appear to be affected (P>0.05 compared to controls). The research highlighted in this paper presents the application of functional evaluation through growth and the long-term effects of nonoperative treatment on gait and function. This is a review of the functional outcome studies from our experience at Scottish Rite for Children.

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

Cited by 13 publications

References 30 publications

Maternal periconceptional folic acid supplements use and fetus risk for limb defects

Maternal periconceptional folic acid supplements use and fetus risk for limb defects

Rare andde novoduplications containingSHOXin clubfoot

This is a narrative review of the functional evaluation of clubfoot treatment with gait analysis

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