The Effectiveness of Serial Casting in the Treatment of Recurrent Equinovarus in Children With Arthrogryposis.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures in 2 or more body areas, often resulting in clubfoot deformities that are typically stiffer than those seen in idiopathic clubfoot deformities. While surgery is routinely used to treat clubfoot in AMC, it has a high rate of recurrence and complications. Current literature suggests serial casting (SC) could be useful in treating clubfoot in AMC, though evidence of its effectiveness is limited. METHODS: Passive range of motion (PROM), dynamic foot pressure, parent-reported Pediatric Outcomes Data Collection Instrument, brace tolerance, and the need for post-casting surgery were evaluated retrospectively in children with AMC treated with SC to address clubfoot deformities. Analysis of variance or paired t tests were used as appropriate on pre-casting, short-term (within 6 mo after SC) and/or longer-term (6 to 18 mo after SC) parameters to determine the effectiveness of SC. Brace tolerance before and after SC was analyzed using the Global Test for Symmetry, and medical records were reviewed to determine the need for surgery post-SC. RESULTS: Forty-six children (6.1±3.1 y old) were cast an average of 2.5±1.9 times, resulting in 206 SC episodes. PROM showed improvement in ankle dorsiflexion and forefoot abduction in the short term (P<0.05), returning to baseline measurements in the long term (P=0.09). Brace tolerance improved after casting (P<0.05). Only 15% of feet required surgery at follow-up at 10.3±5.5 years. There were no significant changes in dynamic foot pressure or Pediatric Outcomes Data Collection Instrument results after SC, except for an increase in the pain subtest (P<0.05). CONCLUSIONS: Serial casting in children with AMC can be effective in temporarily improving PROM and improving brace tolerance, but it does not impact dynamic barefoot position. Positive impact of conservative management in children with AMC can potentially delay or reduce the need for invasive surgical intervention by improving PROM and brace tolerance. LEVEL OF EVIDENCE: Level III, Retrospective Comparative Study.

Characterizing Pain Among Adolescents and Young Adults With Arthrogryposis Multiplex Congenita.

PURPOSE: Primary study objectives were to ( a ) characterize pain and explore differences between adolescents and adults with arthrogryposis multiplex congenita (AMC) and ( b ) evaluate associations between pain-related outcomes and mobility. METHODS: People who can walk and with AMC completed pain-related questionnaires. RESULTS: Sixty-three participants (28 adolescents and 35 young adults) were recruited. Pain was reported in the past week by 81% of participants; intensity ratings were similar between age groups. Per the McGill Pain Questionnaire, pain severity was significantly lower among adolescents. Adults had a greater number of painful regions compared with adolescents. Greater 7-day average pain intensity, McGill Pain Questionnaire scores, and number of painful regions were associated with reduced functional mobility. CONCLUSIONS: As most adolescents and young adults with AMC have at least mild pain, and pain is associated with mobility, future longitudinal investigations of pain and its functional consequences are warranted.

Test-retest reliability for performance-based outcome measures among individuals with arthrogryposis multiplex congenita.

BACKGROUND: Most individuals with arthrogryposis multiplex congenita, a rare condition characterized by joint contractures in ≥ 2 body regions, have foot and ankle involvement leading to compromised gait and balance. The purpose of this study was to establish between-days, test-retest reliability for performance-based outcome measures evaluating gait and balance, i.e., the 10-m Walk Test, Figure-of-8 Walk Test, 360-degree Turn Test, and modified Four Square Step Test, among adolescents and adults with arthrogryposis multiplex congenita. METHODS: This reliability study included ambulatory participants, aged 10 to 50 years, with a medical diagnosis of arthrogryposis multiplex congenita. Participants completed performance-based measures, in a randomized order, on two separate occasions. Intraclass correlation coefficients with 95% confidence intervals and minimal detectable changes at the 90% and 95% confidence level were calculated. RESULTS: Participants included 38 community-ambulators with a median of 13 out of 14 upper and lower joint regions affected. Intraclass correlation coefficient point estimates and 95% confidence intervals ranged from .85-.97 and .70-.98, respectively. Minimal detectable changes were 10 to 39% of sample means and were largest for the modified Four Square Step Test. CONCLUSIONS: Among individuals with arthrogryposis, gait speed per the 10-m Walk Test, as well as non-linear walking and dynamic balance assessment per the Figure-of-8 Walk and 360 Degree Turn Tests, have adequate test-retest reliability enabling evaluation of individual patient changes. Changes in groups of ambulatory individuals with arthrogryposis multiplex congenita may be reliably evaluated with all of the studied outcome measures.

Falls and Associated Factors among Adolescents and Young Adults with Arthrogryposis Multiplex Congenita.

BACKGROUND: Falls research among individuals with arthrogryposis multiplex congenita (AMC), a group of congenital conditions characterized by joint contractures in two or more body regions, is sparse. The primary objectives of this study were to estimate the prevalence of single, multiple, and injurious falls among adolescents and adults with AMC and identify factors associated with multiple and injurious falls. METHODS: Individuals, aged 10-50 years, with a diagnosis of AMC completed questionnaires obtaining demographic and AMC-specific information, falls history (e.g., number, injurious/non-injurious), markers of bone health, orthopedic surgical history, and mobility aid use, as well as the Gillette Functional Assessment Questionnaire and the Saltin-Grimby Physical Activity Level Scale. Falls were defined as "any body part above the ankle coming to rest on the ground, floor, or a lower level". Falling was defined as ≥ 1 fall, while multiple falls were defined as ≥ 2 falls in the past year.Differences in falling, multiple falls, and injurious falls rates between adolescents (10-17 years) and adults (aged 18-50 years) were evaluated. Using univariate binary logistic regression models, associations between participant characteristics and multiple falls, as well as injurious falls, were evaluated, while considering age as a covariate (p ≤ 0.050); odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. RESULTS: Adolescents (N = 28; median age = 14 years) and adults (N = 40; median age = 32 years) with AMC had similar falling, i.e., 89.3% versus 70.0%, and injurious fall rates, i.e., 32.1% versus 27.5%, respectively (p > 0.050).Adolescents with AMC, however, were more likely to report multiple falls in the past year, i.e., 89.3%, when compared to adults with AMC, i.e., 57.5% (p = 0.005). Beyond age, multiple falls were associated with a greater number of lower-limb surgeries [p = 0.036, OR (95%CI): 1.18 (1.01-1.39)], ability to transfer floor-to-stand with support [p = 0.002, OR (95%CI): 8.98 (2.30-35.06)], and increased mobility per the Gillette Functional Assessment Questionnaire [p = 0.004, OR (95%CI): 1.48 (1.13-1.92)]. Factors associated with a reduced odds of multiple falls were spinal involvement [p = 0.025, OR (95%CI): 0.23 (0.07-0.84)], history of spinal surgery [p = 0.018, OR (95%CI: 0.18 (0.04-0.74)], greater upper extremity involvement [OR (95%CI): 0.65 (0.44-0.95)], home assistive device use [p = 0.010, OR (95%CI): 0.15 (0.03-0.63)], and community wheelchair use [p = 0.006, OR (95%CI): 0.16 (0.04-0.59)]. None of the explored characteristics were associated with injurious falls in the past year (p > 0.050). CONCLUSION: Falls are exceedingly common among adolescents and adults with AMC; potential risk and protective factors for multiple falls are identified for future prospective falls research.

The 5-Year Outcome of the Ponseti Method in Children With Idiopathic Clubfoot and Arthrogryposis.

BACKGROUND: The Ponseti method effectively treats idiopathic clubfoot, but its effectiveness in treating the stiffer clubfoot associated with arthrogryposis is less clear. The purpose of this study was to assess the comparative effectiveness of the Ponseti method in 5-year-old children with either idiopathic clubfoot or clubfoot due to arthrogryposis. METHODS: The outcomes of the Ponseti method were retrospectively evaluated in children with idiopathic clubfoot and clubfoot associated with arthrogryposis. The children with clubfoot were seen at our hospital between 2012 and 2019 and were 4.0 to 6.9 years old at the time of their evaluation. Outcomes of the 2 groups of children with clubfoot were assessed using passive range of motion, foot pressure analysis, the Gross Motor Function Measure Dimension-D, and parent report using the Pediatric Outcomes Data Collection Instrument. These results were also compared with the same measures from a group of typically developing children. Surgical and bracing history was also recorded. RESULTS: A total of 117 children were included (89 idiopathic clubfoot and 28 associated with arthrogryposis) with an average age of 4.8±0.8 years. The historical gait analyses of 72 typically developing children were used as a control, with an average age of 5.2±0.8 years. Significant residual equinovarus was seen in both children with idiopathic clubfoot and associated with arthrogryposis according to passive range of motion and foot pressure analysis when compared with normative data. Children with arthrogryposis demonstrated limited transfer and basic mobility, sports functioning, and global functioning while children with idiopathic clubfoot were significantly different from their typically developing peers in only transfer and basic mobility. CONCLUSIONS: Although children with idiopathic clubfoot continue with some level of residual deformity, the Ponseti method is effective in creating a pain-free, highly functional foot. In children with clubfoot associated with arthrogryposis, the Ponseti method is successful in creating a braceable foot that can delay the need for invasive surgical intervention. LEVEL OF EVIDENCE: Level III, Therapeutic Studies-Investigating the Results of Treatment.

Rehabilitation across the lifespan for individuals with arthrogryposis.

Arthrogryposis multiplex congenita (AMC) can be a perplexing diagnosis that consists of limited range of motion (ROM) and decreased muscle strength in multiple joints. The person with AMC often possesses a certain tenacity and "spunk" that assists them with adjusting and adapting to the realities of daily life. The rehabilitation process assists the individual with AMC in achieving and maintaining the maximal active and passive range of motion and strength in order to participate in activities of daily living (ADL) throughout the developmental stages. The result of this life-long process is greatly impacted by collaboration among the multidisciplinary teams. Ultimately, rehabilitation should focus on three levels of treatment: (a) body structure, (b) activity, and (c) participation. This article describes rehabilitation across the lifespan-focusing on the therapeutic needs in the infant, toddler, school age and teenage/adult years-while also highlighting opportunities for improvement.

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.

Predicting Ambulatory Function Based on Infantile Lower Extremity Posture Types in Amyoplasia Arthrogryposis.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a nonprogressive syndrome with multiple rigid joints, fibrotic periarticular tissue, and muscular fibrosis. The most common subgroup is amyoplasia. Ambulation is one of the most significant functions of the lower extremities as it translates to increased functionality and independence in adulthood. There is no predicative scale to determine ambulation at maturity for the infant with amyoplasia. It is believed lower extremity resting position of infants with amyoplasia potentially correlates with ambulation at maturity. The purpose of this study was to classify the infantile position of lower extremities and muscle strength to predict ambulation potential at maturity. METHODS: Children with amyoplasia were retrospectively reviewed and classified into groups based on infantile position of hip-knee alignment and limb muscle function. Sitting, standing, and walking skills from infancy into adulthood were evaluated. The ambulation function was correlated with the infantile position of the lower extremities. RESULTS: Amyoplasia cases were sorted into 5 types and correlated with ambulatory potential. Type I: mild ambulatory impairment with infantile position of flexed knees and hips but full range of motion. At maturity, all were community ambulators. Type II: moderate ambulatory impairment having infantile position of hip flexion, hip external rotation, and knee flexion contractures. Hip abductors and external rotators had antigravity strength. All stood and walked during the first decade of life with knee ankle foot orthoses. Type III: severe ambulatory impairment having infantile position of hip flexion, abduction, external rotation, and knee flexion contractures but lacked hip muscle recruitment. All used wheelchairs at maturity. Type IV: mild ambulatory impairment with infantile position of extended knees and flexed dislocated hips. At maturity, 90% were community ambulators. Type V: variable ambulatory impairment having asymmetric hip and knee alignment with unilateral hip dysplasia with extended knee and opposite limb flexed. Ambulation skill varied at maturity with 27% full-time wheelchair users. CONCLUSIONS: Amyoplasia can be sorted by infantile position of lower extremities and muscle strength into 5 types to predict ambulatory function. LEVEL OF EVIDENCE: Level III-Prognostic Study.

Prevalence and patterns of scoliosis in children with multiple pterygium syndrome.

BACKGROUND: Although scoliosis is a predominant feature of multiple pterygium syndrome (MPS), the pattern of deformity and the progression of the curvature have not been well described. The purpose of this study was to assess the prevalence of scoliosis among patients with MPS, and to characterize the abnormalities of the vertebrae and to assess the progression of the scoliosis. METHODS: From 1969 to 2008, we identified 19 patients with MPS but only 16 patients (8 boys and 8 girls) had complete data. Medical records and radiographs of these 16 patients were reviewed. Magnetic resonance imaging was performed in 8 patients to evaluate intraspinal anomalies. Functional mobility score was used to assess the ambulatory ability. RESULTS: Of 16 patients, 13 patients (81.3%) had scoliosis. The mean age when the scoliosis was first noticed was 3.3±2.6 years (range, 1 mo to 8.2 y). The mean Cobb angle at first visit was 37.4±18.1 degrees (range, 14.0 to 75.0 degrees). With a mean follow-up of 4.0±4.9 years, the Cobb angle at the last visit was 43.3±19.1 degrees (range, 20.0 to 72.0 degrees). Congenital scoliosis was observed in 7 patients (3 unilateral unsegmented bar, 3 fusion of the cervical spine, 1 block vertebrae), whereas neuromuscular scoliosis was observed in 1 patient. A common radiographic finding was narrowing of the intervertebral disc space with decreased height of vertebrae in the thoracic area. Intraspinal anomalies were seen in 4 patients (3 tethered spinal cords, 1 syrinx). At the last follow-up, 5 of 13 patients who had scoliosis were able to walk at school without assistance (Functional mobility scale-500 ≥5). CONCLUSIONS: Scoliosis is common among children with MPS. It is frequently accompanied by fusion of the cervical area. Intraspinal anomalies such as tethered cord syndrome and syringomyelia are common associated anomalies. Therefore, it is important to look for intraspinal anomalies. Closed monitoring of the patient's ambulatory ability and bowel and bladder continence is also needed. LEVEL OF EVIDENCE: Level IV, Diagnostic Study.

Congenital vertical talus in multiple pterygium syndrome.

BACKGROUND: Congenital vertical talus (CVT) is a rare foot deformity, but it is a commonly associated anomaly in patients with multiple pterygium syndrome (MPS). If left untreated, it can cause pain and morbidity, which will affect the patient's ambulation and quality of life. The aim of this study was to assess the prevalence of CVT among patients with MPS, to characterize the clinical and radiological features and examine the outcome of treatment. METHODS: We reviewed the medical records from 1969 to 2009, and detected 14 patients with a diagnosis of MPS. Data regarding clinical findings, radiographs, associated anomalies, and treatment were collected and analyzed. RESULTS: CVT was seen in 10 of 14 patients (71%). All of them had bilateral involvement. Eight of the 10 (80%) were girls, and 3 of these 10 (30%) were nonambulatory patients. All 7 ambulatory patients had manipulation and casting, followed by a single-stage surgical release. The mean age at surgery was 3.0 ± 3.7 years (range, 3 mo-9 y 2 mo). At the last follow-up, all of the 7 patients (100%) had painless plantigrade feet and a reduced talonavicular joint, and none had recurrence of the deformity. The overall mean follow-up was 6 years (range, 2-19 y) and the mean age at the last follow-up was 9 years (range, 2-23 y). The commonly associated anomalies were scoliosis (93%), tethered cord (14%), hip dislocation (43%), cardiac (29%), respiratory (43%), and gastrointestinal anomalies (29%). CONCLUSIONS: CVT is common in MPS. The other common anomalies included scoliosis, hip dislocation, and respiratory problems. Treatment with manipulation and casting followed by, a single-stage surgical release resulted in a good outcome.

Anterior distal femoral stapling for correcting knee flexion contracture in children with arthrogryposis--preliminary results.

BACKGROUND: Fixed flexion contractures of the knee are more common and disabling than extension contractures in children with arthrogryposis. For correcting these deformities, there are various surgical options such as soft tissue release, distal femoral osteotomy, and frame distraction. We sought in this study to examine the effectiveness of anterior distal femoral stapling using 8-plates for correcting knee flexion contracture in children with arthrogryposis. METHODS: We retrospectively assessed 16 knees in 10 children using clinical and radiographic measures. To determine the outcome, we assessed the Functional Mobility Scale (FMS) as well. Statistically, a paired t test, independent t test, and Wilcoxon signed-rank test were used to analyze the results. RESULTS: After anterior distal femoral stapling, there was a reduction in the flexion deformity of the knee in children with arthrogryposis, P<0.05. There was an estimated 18-degree correction comparing the mean preoperative flexion deformity and the mean postoperative flexion deformity. This correction was significant in children when the knee flexion deformity was less than 45 degrees. The FMS also improved in those patients where the residual flexion contracture was less than 30 degrees at follow-up, suggesting an improvement in their ambulatory capacity, P<0.05. CONCLUSION: Among children with arthrogryposis who present with knee flexion contractures, anterior distal femoral stapling with 8-plates improved their flexion deformity and ambulatory capacity. This technique is less invasive than soft tissue releases, distal femoral osteotomy, or frame distraction and is most rewarding in children with arthrogryposis whose flexion contractures is less than 45 degrees.

Diagnostic imaging of the knee in children with arthrogryposis and knee extension or hyperextension contracture.

PURPOSE: Amyoplasia (type 1), characterized by quadrimelic limb involvement, is one of the most common types of arthrogryposis. In children with hyperextension or extension contracture of the knee, subluxation or dislocation of the knee joint with an associated subluxation or dislocation of the patella is frequently seen. Patellar malpositioning may be secondary to congenital hypoplasia of the patellar groove of the femur and/or dysplasia of the patellofemoral joint. A contracted quadriceps tendon and illiotibial band, as seen in extension contractures of the knee in arthrogryposis, may also contribute to patella alta and lateral subluxation of the patella. The aim of our study is to determine the position of the patella in children with quadrimelic arthrogryposis and knee extension contracture. METHODS: The inclusion criteria for this study were as follows: patients diagnosed with arthrogryposis multiplex congenita group 1, a knee extension contracture present from birth, follow-up from birth or early childhood, at least yearly physical examinations, and a knee ultrasonography or magnetic resonance imaging study performed. Patellar position was determined, and the cartilaginous femoral sulcus angle, as well as the osseous femoral sulcus angle, was measured. RESULTS: Clinically, none of patella in any of the patients could be palpated before surgery. The patella was displaced superiorly and laterally in 16/16 knees as seen on ultrasonography. Magnetic resonance imaging also showed the patella to be displaced superior and laterally. CONCLUSIONS: All patients in our series with extension contracture of the knee and type 1 arthrogryposis had a patella that was superior and lateral to the patellar groove. We found that quadricepsplasty and relocation of the patella improved knee flexion. All patients regained active knee extension in 6 months postsurgery. LEVEL OF EVIDENCE: Level III-diagnostic.

Congenital vertical talus in arthrogryposis and other contractural syndromes.

No practical classification system exists to identify which patients may have successful outcome following treatment of congenital vertical talus in arthrogryposis. We classified 229 patients into five distinct groups: Group I had amyoplasia or so-called classic arthrogryposis, Group II had distal arthrogryposis, Group III had a specific syndrome as a diagnosis, Group IV had severe systemic or neurologic involvement, and Group V had unclassifiable contracture syndromes. No patient with amyoplasia (Group I) had congenital vertical talus. The congenital vertical talus seen in distal arthrogryposis (Group II) was milder than that seen in Groups III or IV and feet in this group responded well to early one-stage surgical correction. Congenital vertical talus that occurred in association with a generalized syndrome or with extensive systemic and neurologic involvement (Groups III and IV) was severe and refractory to treatment. Most children in these groups were unable to walk; therefore, the goal of treatment should be to achieve a pain-free foot to allow fitting of normal shoes. Most children in Group V were able to walk and responded well to operative correction; they should be treated before walking age.