Diagnosis and Treatment of Idiopathic Congenital Clubfoot.

Idiopathic congenital clubfoot is the most common serious musculoskeletal birth defect in the United States and the world. The natural history of the deformity is to persist into adult life with a significant decrease in function and quality of life. The Ponseti method (serial casting, Achilles tenotomy, and bracing of the clubfoot) has become the most effective and accepted treatment of children born with clubfoot worldwide. The treatment is successful, particularly when the Ponseti-trained practitioner (often a pediatric orthopedic surgeon), the primary care clinician, and the family work together to facilitate success. An important factor in the ultimate success of the Ponseti method is parental understanding of the bracing phase. There is a very high rate of recurrent deformity when bracing is not done properly or is stopped prematurely. The importance of positive education and support for the parents to complete the entire treatment protocol cannot be overstated. The goal of treatment is a deformity-free, functional, comfortable foot. Ponseti clubfoot programs have been launched in most countries throughout the world, including many countries with limited resources. Ultimately, the goal is that every infant born with a clubfoot will have access to care with the Ponseti method. This clinical report is intended for medical practitioners who are involved in the care of pediatric patients with clubfoot. Understanding the standard of care will help these practitioners to care for patients and their families.

Using briefing, simulation and debriefing to improve human and system performance.

Safety, effectiveness and efficiency are keys to performance in all high-risk industries; healthcare is no exception, and neonatal-perinatal medicine is one of the highest risk subspecialties within healthcare. Briefing, simulation and debriefing are methods used by professionals in high-risk industries to reduce the overall risk to life and enhance the safety of the human beings involved in receiving and delivering the services provided by those industries. Although relatively new to neonatal-perinatal medicine, briefing, simulation and debriefing are being practiced with increasing frequency and have become embedded in training exercises such as the Neonatal Resuscitation Program (NRP) of the American Academy of Pediatrics (AAP). This chapter will define these terms and offer examples as to how they are used in high-risk activities including neonatal-perinatal medicine.

Clinical outcomes and risk-factor analysis of the Ponseti Method in a low-resource setting: Clubfoot care in Haiti.

PURPOSE: The Ponseti Method has dramatically altered the management of clubfoot, with particular implications for limited-resource settings. We sought to describe outcomes of care and risk factors for sub-optimal results using the Ponseti Method in Haiti. METHODS: We conducted a records review of patients presenting from 2011-2015 to a CURE Clubfoot clinic in Port-au-Prince, Haiti. We report patient characteristics (demographics and clinical), treatment patterns (cast number/duration and tenotomy rates), and outcomes (relapse and complications). We compared treatment with benchmarks in high-income nations and used generalized linear models to identify risk factors for delayed presentation, increased number of casts, and relapse. RESULTS: Amongst 168 children, age at presentation ranged from 0 days (birth) to 4.4 years, 62% were male, 35% were born at home, 63% had bilateral disease, and 46% had idiopathic clubfeet. Prior treatment (RR 6.33, 95% CI 3.18-12.62) was associated with a higher risk of delayed presentation. Risk factors for requiring ≥ 10 casts included having a non-idiopathic diagnosis (RR 2.28, 95% CI 1.08-4.83) and higher Pirani score (RR 2.78 per 0.5 increase, 95% CI 1.17-6.64). Female sex (RR 1.54, 95% CI 1.01-2.34) and higher Pirani score (RR 1.09 per 0.5 increase, 95% CI 1.00-1.17) were risk factors for relapse. Compared to North American benchmarks, children presented later (median 4.1 wks [IQR 1.6-18.1] vs. 1 wk), with longer casting (12.5 wks [SD 9.8] vs. 7.1 wks), and higher relapse (43% vs. 22%). CONCLUSIONS: Higher Pirani score, prior treatment, non-idiopathic diagnosis, and female sex were associated with a higher risk of sub-optimal outcomes in this low-resource setting. Compared to high-income nations, serial casting began later, with longer duration and higher relapse. Identifying patients at risk for poor outcomes in a low-resource setting can guide counseling, program development, and resource allocation.

Continued visual field progression in eyes with prior visual field progression in patients with open-angle glaucoma.

PURPOSE: To evaluate continued visual field (VF) progression in eyes with prior VF progression from open-angle glaucoma, using event-based criteria. METHODS: Retrospective observational case series of 70 eyes (70 patients) with open-angle glaucoma, treated for at least 2 years, that had earlier shown 1 step of VF progression. Further VF progression required a worsening of 3 adjacent points at the same location on 2 consecutive VF tests. Potential risk factors for continued progression were evaluated. RESULTS: The mean follow-up was 127±43 months. Thirty-seven eyes (55%) continued to progress. At 5, 10, and 15 years after the initial VF, the Kaplan-Meier estimate of the risk of developing 2 steps of progression was 18%, 53%, and 71%. A shorter time to the first step of progression was significantly associated with further progression (P<0.001), as was slope of the VF mean deviation (P<0.001) and pattern standard deviation (P=0.041). Eyes with further progression had higher mean IOP after the first step of progression (P=0.026). Among 37 eyes with 2 steps of progression, the estimate of the risk of progressing further was 32% at 10 years after the initial VF. CONCLUSION: Eyes with a relatively shorter time to initial VF progression from open-angle glaucoma are likely to continue to progress over long-term follow-up. More aggressive treatment in such eyes might reduce the likelihood of further VF progression.

Developmental dysplasia of the hip: definition, recognition, and prevention of late sequelae.

When a child presents with a dislocated hip after the walking age, parents are upset, pediatricians are distraught, and lawsuits often follow. The prevention of late presentation is a goal that all practitioners should strive for. However, at this time, using current diagnostic techniques, the late presentation of DDH can be minimized but not eliminated. The AAP Subcommittee on DDH has estimated that approximately 15% of DDH at birth is not detectible, even by experienced examiners or ultrasonographers. In addition to preventing the late presentation of a developmentally dislocated hip, the prevention of premature degenerative arthritis of the hip secondary to developmental subluxation and acetabular dysplasia is equally, if not more, important in terms or morbidity and cost. It is hoped that the identification and treatment of babies with DDH at birth will have the added benefit of decreasing the incidence of degenerative arthritis of the hip in adults. As the key to early detection remains repeated, careful examination of the infant in the first year of life, it is imperative for practitioners to become as skilled as possible in performing the exam. Unfortunately, medical school curricula and pediatric and family practice residency programs often are deficient in teaching the neonatal hip examination. Strategies for clinicians to improve their examination technique include asking a pediatric orthopedic surgeon to demonstrate the examination in their nursery or attending one of the AAP courses on DDH. Starting a formal DDH screening program in the nursery is another option, using few screeners to maximize their experience. Nurse practitioners, physician's assistants, and physiotherapists could be used in addition to physicians. Having a child present with a developmentally dislocated hip after the walking age is not malpractice if the child has had repeated careful examinations. It is important to document the examinations in writing, rather than placing a check mark next to "musculoskeletal" or "hips" on standard, pre-printed exam forms. The best documentation is a handwritten note that states "the hips are stable and there is wide symmetrical abduction" at every well-child visit. At this time, careful, repeated physical exam supplemented by ultrasonography or X-rays for babies with risk factors is our best strategy to minimize the late presentation of DDH.

Congenital vertical talus in four generations of the same family.

OBJECTIVE: This paper presents four generations of a family with radiographically demonstrated congenital vertical talus (CVT) in whom a HOXD10 gene mutation was identified. Some members of the family with this mutation exhibited cavo-varus foot deformity consistent with a Charcot-Marie-Tooth (CMT)-like disorder. DESIGN AND PATIENTS: Physical examination was performed on nearly all of the affected and unaffected family members. DNA was extracted from blood obtained from 14 subjects who showed radiographic and clinical features of CVT (two of whom also had CMT), from two subjects with features of CMT but not CVT, and from 20 related family members who were clinically normal. RESULTS: Radiographs show the appearance of uncorrected CVT in infancy, in childhood, and in adulthood. DNA analysis revealed a mutation in a HOXD10 gene located on chromosome 2 in all of the affected but none of the unaffected family members. CONCLUSION: There is an autosomal-dominant-inherited mutation with complete penetrance which is found in all members of a pedigree with CVT, some of whom exhibit a CMT-like foot disorder. Radiologic findings vary depending on the severity of involvement, treatment provided and age of the patient.

A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.

Congenital vertical talus (CVT), also known as "rocker-bottom foot" deformity, is a dislocation of the talonavicular joint, with rigid dorsal dislocation of the navicular over the neck of the talus. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity. The reported familial cases are consistent with an autosomal dominant mode of inheritance with incomplete penetrance. In contrast, Charcot-Marie-Tooth disease (CMT) is thought to be a completely distinct heterogeneous group of disorders, with foot abnormalities that typically develop a high-arched "claw foot" appearance later in life. In the present study, DNA was isolated from 36 members of a single upstate (northern) New York white family of Italian descent in which both CVT and CMT were segregating. Whole-genome linkage analysis with Affymetrix GeneChip Mapping 10K Array defined a 7-Mb critical region on chromosome 2q31, which led to candidate-gene sequencing of six HOX genes and detection of a single missense mutation, M319K (956T-->A), in the HOXD10 gene. In the study family, this mutation was fully penetrant and exhibited significant evidence of linkage (LOD 6.33; theta =0), and it very likely accounts for both CVT and CMT in heterozygotes.