Focus areas and methodological characteristics of North American-based health disparity research in sports medicine: a scoping review.

OBJECTIVE: Health disparities are widely prevalent; however, little has been done to examine and address their causes and effects in sports and exercise medicine (SEM). We aimed to summarise the focus areas and methodology used for existing North American health disparity research in SEM and to identify gaps in the evidence base. DESIGN: Scoping review. DATA SOURCES: Systematic literature search of PubMed, Scopus, SPORTDiscus, CINAHL Plus with Full Text, Web of Science Core Collection and Cochrane Central Register of Controlled Trials. ELIGIBILITY CRITERIA: Full-text, peer-reviewed manuscripts of primary research, conducted in North America; published in the year 2000 or after, in English; and focusing on organised sports were included. RESULTS: 103 articles met inclusion criteria. Articles were classified into five focus areas: access to and participation in sports (n=45), access to SEM care (n=28), health-related outcomes in SEM (n=24), provider representation in SEM (n=5) and methodology (n=1). Race/ethnicity (n=39), socioeconomic status (n=28) and sex (n=27) were the most studied potential causes of health disparities, whereas sexual orientation (n=5), location (rural/urban/suburban, n=5), education level (n=5), body composition (n=5), gender identity (n=4) and language (n=2) were the least studied. Most articles (n=74) were cross-sectional, conducted on youth (n=55) and originated in the USA (n=90). CONCLUSION: Health disparity research relevant to SEM in North America is limited. The overall volume and breadth of research required to identify patterns in a heterogeneous sports landscape, which can then be used to inform positive change, need expansion. Intentional research focused on assessing the intersectionality, causes and consequences of health disparities in SEM is necessary.

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in association with other congenital anomalies. The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel therapeutic and prevention strategies. Exome sequencing was performed on both the discovery cohort of nine unrelated probands from the USA with VMs and the replication cohort from China (Deciphering Disorders Involving Scoliosis & COmorbidities study). The discovery cohort was analyzed using the PhenoDB analysis tool. Heterozygous and homozygous, rare and functional variants were selected and evaluated for their ClinVar, HGMD, OMIM, GWAS, mouse model phenotypes, and other annotations to identify the best candidates. Genes with candidate variants in three or more probands were selected. The replication cohort was analyzed by another in-house developed pipeline. We identified rare heterozygous variants in KIAA1217 in four out of nine probands in the discovery cohort and in five out of 35 probands in the replication cohort. Collectively, we identified 11 KIAA1217 rare variants in 10 probands, three of which have not been described in gnomAD and one of which is a nonsense variant. We propose that genetic variations of KIAA1217 may contribute to the etiology of VMs.

Radiographic and Respiratory Effects of Growing Rods in Children With Spinal Muscular Atrophy.

BACKGROUND: Respiratory weakness and spinal deformity are common in patients with spinal muscular atrophy (SMA). Posterior (distraction type) growing rods have recently gained favor as a treatment option in this population, due to their ability to prevent spinal deformity progression and their potential to allow lung volumes to increase over time. The objective of this study was to determine the impact of posterior growing rods on the spinal alignment and respiratory function in children with SMA with intermediate term follow-up. METHODS: A single center, retrospective review was performed on SMA patients treated with growing rods, inserted between 2004 and 2010, with a minimum of 2-year follow-up. SMA type, changes in the route of bi-level positive airway pressure respiratory support and the amount of time receiving respiratory support are reported. Pulmonary function tests (PFTs) and radiographs were reviewed and data evaluated preinsertion, postinsertion, and at latest follow-up. RESULTS: Sixteen children with SMA (5 type I, 11 type II) met inclusion criteria. The average age of insertion was 5.8 (±1.5) years, the median number of lengthenings was 4 (range, 3 to 5), and the median time between insertion and last clinical review was 4.7 (range, 2.7 to 9.5) years. Radiographic review demonstrated significant (P<0.05) improvements in the following: Spinal curve magnitude, pelvic obliquity, space available for the lung, rib vertebral angle difference, and thoracic kyphosis following growing rod implantation. Thoracic and lumbar height and chest width and depth increased significantly (P<0.05) over the lengthening process. None of the patients initially required more than noninvasive positive pressure ventilation support. Fifteen of the 16 experienced no changes in their noninvasive positive pressure ventilation support needs throughout the study duration, requiring support only at night and naps. Serial PFTs were available for 6 children with SMA type II. PFTs demonstrated significant improvements in absolute forced vital capacity (FVC), minimal changes in the maximal inspiratory and expiratory pressures, and a gradual worsening of percent predicted FVC. CONCLUSIONS: Clinical respiratory support requirements appear to stabilize following the insertion and lengthening of posterior based growing rods in the SMA population. Similar to previous studies, increased spinal height and thoracic cavity size were noted throughout the process. Despite an increasing absolute FVC, the percent predicted FVC diminished over time. LEVEL OF EVIDENCE: Level IV-therapeutic.

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial differences (zygomatic and mandibular hypoplasia and cleft palate) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS). The diagnosis of KFS was favored, given that the neck anomalies were the predominant manifestations, and that the diagnosis predated later recognition of the association between spinal segmentation abnormalities and TCS. Genetic heterogeneity and the rarity of large families with KFS have limited the ability to identify mutations by traditional methods. Whole exome sequencing identified a nonsynonymous mutation in POLR1D (subunit of RNA polymerase I and II): exon2:c.T332C:p.L111P. Mutations in POLR1D are present in about 5% of individuals diagnosed with TCS. We propose that this mutation is causal in this family, suggesting a pathogenetic link between KFS and TCS.

Cast-saw injuries: assessing blade-to-skin contact during cast removal. Does experience or education matter?

BACKGROUND: Cast-saw injuries are sustained during cast removal or splitting of a cast when a hot cast-saw blade touches the patient's skin inadvertently during cast removal. Other studies have evaluated risk factors associated with saw-blade temperature, however, none have documented the number and duration of blade-to-skin contacts during cast removal. METHODS: Using a pediatric long-arm model capable of detecting cast-saw blade contact, we tested the ability of health care providers to apply and remove casts before and after a brief education module. The total number and duration of "touches" between the saw and the model's "skin" were recorded. Correlations between user "touches," and experience and comparisons between pre- and post-education "touches" were performed. RESULTS: Of the 18 study participants, 16 touched the model surface with the cast saw; 7 of the 18 participants maintained blade contact with the skin for > 1 second 22 times during the testing process. Participants with less experience averaged 20 (± 16) touches, whereas more experienced participants averaged 24 (± 19) touches (P = 0.7). Average number of touches was similar-before 22 (± 20) and after 25 (± 22); P = 0.5-participants completed an education module. No correlation between experience or participation in the education program was found with decreased number of blade-to-skin touches. CONCLUSION: Nearly all clinicians inadvertently contacted the underlying skin with the cast-saw blade. In our limited sample size, experience and education did not prevent this; therefore, minimizing time of contact and blade temperature may be more important factors in minimizing cast-saw injuries.

Hip Pain in Nonambulatory Children with Type-I or II Spinal Muscular Atrophy.

The purpose of the present study was to define the prevalence of hip pain in nonambulatory children with spinal muscular atrophy (SMA) (type I or II) treated with aggressive medical management, prior to widespread use of disease-modifying therapies (DMTs). Methods: A retrospective chart review (1993 to 2017) was performed on children diagnosed with SMA to identify subjective reports of hip pain and associated interventions, while radiographs were evaluated to assess hip instability and spinal deformity. Results: Seventy-two patients (33 with type I and 39 with type II) met the inclusion criteria. Hip pain was more frequent in type-II SMA (49% versus 12%; p = 0.001). Seventeen percent of the patients with 2 copies of the SMN2 (survival motor neuron 2) gene, 53% of patients with 3 copies, and 1 of the 2 patients with 4 copies reported hip pain. Nearly all patients had abnormal findings on hip radiographs made at the onset of pain or at the latest follow-up; however, no patient with type-I and 18% of those with type-II SMA had pain that was severe enough to undergo invasive intervention (p = 0.01). The intervention reduced the pain in most of those patients but completely eliminated it in only 1 patient. No significant differences were found with respect to the mean age at the onset of scoliosis, the mean age at the time of scoliosis surgery, or whether insertion of growing rods or posterior spine fusion was performed between those with and without hip pain requiring invasive treatment. Conclusions: This study is, to our knowledge, the largest investigation to date to assess hip pain among nonambulatory children with type-I or type-II SMA and suggests that symptoms rather than radiographs be utilized to direct care. These data will be crucial in assessing any effects that the new DMTs have on the natural history of hip pathology and pain in nonambulatory patients with SMA. Level of Evidence: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Quality of Life Outcomes According to Differential Nusinersen Exposure in Pediatric Spinal Muscular Atrophy.

The purpose of this study was to explore early changes in patient and family caregiver report of quality of life and family impact during the transitional period of nusinersen use. Communication; family relationships; physical, emotional, social, and cognitive functioning; and daily activities were measured using Pediatric Quality of Life modules (Family Impact Modules and both Patient and Proxy Neuromuscular-Specific Reports) pre- and post-nusinersen exposure. A total of 35 patients with SMA (15 Type 1, 14 Type 2, and 6 Type 3) were grouped according to nusinersen exposure. When analyzed as a whole cross-sectional clinical population, no significant differences were found between the initial and final surveys. Nusinersen therapy was associated with improved communication and emotional functioning in subsets of the population, particularly for patients on maintenance therapy for longer duration. Several unexpected potentially negative findings including increases in family resources and trends towards increases in worry warrant further consideration. Further research is warranted to explore the impact of novel pharmaceuticals on quality of life for children with SMA longitudinally to optimize clinical and psychosocial outcomes.

Sagittal Plane Deformities in Children with SMA2 following Posterior Spinal Instrumentation.

This is a retrospective radiographic review to assess post-operative sagittal plane deformities in patients with Spinal Muscular Atrophy type 2 that had been treated with posterior spinal instrumentation. Thirty-two patients with a history of either spinal fusion (N = 20) or growing rods (N = 12) were identified with an average of 7.6 (2.1-16.6) years post-operative follow-up. Forty percent (13/32) of the patients were identified as having obvious "tucked chin" (N = 4), "tipped trunk" (N = 9), or both (N = 3). Sacral incidence was the only parameter that was statistically significant change between pre-operative or immediate post-operative measurements (66.9° vs. 55.2° p = 0.03). However, at final follow-up, the post-operative thoracic kyphosis had decreased over time in those that developed a subsequent sagittal deformity (24.2°) whereas it increased in those that did not (44.7°, p = 0.008). This decrease in thoracic kyphosis throughout the instrumented levels, resulted in a greater lordotic imbalance (30.4° vs. 5.6°, p = 0.001) throughout the instrumented levels in the group that developed the subsequent cervical or pelvic sagittal deformities. In conclusion, sagittal plane deformities commonly develop outside the instrumented levels in children with SMA type 2 following posterior spinal instrumentation and may be the result of lordotic imbalance that occurs through continued anterior growth following posterior instrumentation.

Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened?

STUDY DESIGN: Single center, retrospective chart review. OBJECTIVES: To determine if routine posterior spinal fusion (PSF) is unnecessary in non-ambulatory growing rod graduates with SMA. Most non-ambulatory children with SMA develop early-onset scoliosis (EOS). Posterior growing rods (GR) have been shown safe and effective in managing spinal deformities in these children. The best management of these children, once graduated from their GR, is currently unknown. In this study, we report the clinical results of managing these children without routine definitive fusion following a course of GR treatment. METHODS: A single-center, retrospective chart and radiographic review was performed on children with SMA treated with posterior distraction GR, with a two-year minimum follow-up since final lengthening. Electronic medical records and radiographs were reviewed for demographic variables, Cobb measurements, implant revisions, occult radiographic implant failure, symptomatic failure, and/or conversion to PSF. RESULT: 12 patients (2 type 1, 9 type 2, 1 type 1/2) met inclusion criteria. Mean age at growing rod insertion was 6.2 years of age (range 4.1-8.2) and age at final lengthening 10.3 years of age (range 9.3-11.9). The mean time between last lengthening and latest clinical or radiographic review was 5.5 (range 2.1-9.0) years. Average mean pre, post, final Cobb angles were 71°, 27° (p < 0.001), 25°. Following final lengthening, only one patient required hardware revision and conversion to definitive fusion in attempts to alleviate chronic hip pain, which was unsuccessful. One additional patient was found to have an occult rod failure that has not required treatment. CONCLUSION: While limited by sample size, this single-center cohort of non-ambulatory SMA patients with EOS treated with similar constructs suggests that routine, definitive fusion in SMA GR graduates may be unnecessary. LEVEL OF EVIDENCE: Level IV.

A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions.

BACKGROUND: Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES: To report on the quality of life and family experience for children with spinal muscular atrophy with attentiveness to patient- and proxy-concordance and to stratify quality of life reports by spinal muscular atrophy type and medical interventions. METHODS: A prospective, crossover survey study inclusive of 58 children (26 spinal muscular atrophy type I, 23 type II, 9 type III) and their family caregivers at a free-standing Midwestern children's hospital. Twenty-eight families completed the 25-item PedsQL 3.0 Neuromuscular Module. Forty-four participants completed the 36-item PedsQL Family Impact Module and 47 completed the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) questionnaire. RESULTS: The PedsQL Family Impact Module demonstrated significant differences between spinal muscular atrophy types I and II in functioning domains including physical, emotional, social, and family relations (P < .03). Child self-report and proxy report surveys demonstrated significant differences between spinal muscular atrophy types in the communication domains (P < .003). Children self-reported their quality of life higher than proxy report of child quality of life. Gastrostomy tube (P = .001) and ventilation support (P = .029) impacted proxy-reported quality of life perspectives, whereas nusinersen use did not. Spinal surgery was associated with improved parental quality of life and family impact (P < .03). CONCLUSIONS: The measurement and monitoring of quality of life for children with spinal muscular atrophy and their families represents an implementable priority for care teams.

Reliability of radiographic measures in infants with clubfoot treated with the Ponseti method.

PURPOSE: The aim of this study was two-fold: (1) to determine if radiographic measures can be reliably made in infants being treated with the Ponseti method and (2) to document radiographic changes before and after Achilles tenotomy. METHODS: A retrospective radiographic and chart review was performed on children with clubfoot treated by the Ponseti method at a single institution over a 10-year period. Five independent reviewers measured a series of angles from a lateral forced dorsiflexion radiograph taken prior to and following Achilles tenotomy. These measures were taken in triplicate to determine the intra- and inter-reader reliability of dorsiflexion, tibio-calcaneal, talo-calcaneal, and talo-first metatarsal angles. RESULTS: Thirty-six subjects (56 feet) were treated with the Ponseti method and met the inclusion criteria. The median (range) age of patients at the time of tenotomy was 52 (34-147) days. The intra-reader reliability [intra-rater correlation coefficient (ICC)] for each of the measured angles pre- and post-tenotomy ranged from 0.933 to 0.995 and 0.864 to 0.995, respectively. Similarly, the inter-reader reliabilities (ICC) ranged from 0.727 for the pre-tenotomy (talo-calcaneal) to 0.950 for the post-tenotomy (talo-first metatarsal) angles. The mean differences between pre- and post-tenotomy radiographs were: dorsiflexion increase of 17°, tibio-calcaneal angle increase of 19°, talo-calcaneal angle increase of 9°, and talo-first metatarsal angle increase of 10° (p-value ≤0.001 for all measurements except the talo-first metatarsal angle, with a p-value of 0.001). CONCLUSIONS: Reliable radiographic measures can be made from lateral dorsiflexion radiographs of clubfeet treated with the Ponseti method before and after Achilles tenotomy.

Comparing results of posterior spine fusion in patients with AIS: Are two surgeons better than one?

AIMS: Spinal deformity surgery is one of the most complicated procedures performed in pediatric orthopedics. These surgeries can account for long operative times and blood losses. Finding ways to limit patient morbidity undergoing these procedures may benefit many. We hypothesized that utilizing two fellowship trained pediatric spinal deformity surgeons would lead to decreased operative time and blood loss when compared with single surgeon. We felt very little difference would be found in terms of curve correction. METHODS: A retrospective review of spinal deformity surgeries performed at two institutions was performed. At one institution, the standard of care was to have two fellowship deformity trained surgeons perform all deformity surgeries simultaneously, while at the second institution posterior spinal fusions performed by individual surgeons were performed. The single surgeon cohort was further divided based on instrumentation type (pedicle screw vs hybrid constructs). Cases for this review were limited to posterior spinal fusions without osteotomies in patients with idiopathic or idiopathic like curves. Cohorts were compared pre-operatively for age at surgery, sex, BMI, largest Cobb angle. Intra-operative comparisons included total EBL, instrumentation type screws vs hybrid, levels fused, and operative time. Comparisons between largest remaining Cobb, EBL/level, time/level, lowest recorded Hb, allogenic transfusion requirements, length of PICU stay, and total length of hospital stay were then made. Pair-wise student t-tests was performed between cohorts with significance defined as a p-value of 0.05 or less. CONCLUSIONS: Twenty-four patients were found in the (BMP) cohort, where as eighty-two were found in the control group. No significant difference in age, sex, starting hemoglobin, BMI*, or maximum pre-operative Cobb between cohorts was found. A significantly lower number of levels were fused in the BMP cohort than the control (9 ± 2 vs 11 ± 2) p < 0.001, and likewise a significantly shorter operative time (average >2 h) was seen in the BMP cohort. Interestingly, no difference in estimated blood loss, blood loss/level fused, operative time/level fused was observed, yet a significantly greater drop in hemoglobin (average 1 g) p = 0.001 and allogenic transfusion rate was seen in the control group (4% (1/24) vs 29% (24/82)) p = 0.01. A greater improvement in Cobb angle was seen in the BMP group 46 ± 8 vs 35 ± 10° p < 0.001. No differences were seen in nights in the PICU and peri-operative complications, however patients in the BMP averaged nearly 1day less in the hospital than in the control group. Utilizing a blood management program including two surgeons in spinal deformity surgery appears to decrease operative time, blood loss, and improve curve correction. Confounding factors such as differences in number of fusion levels, curve types, instrumentation type, and institutional practices prevents drawing definitive conclusions. This is the first study to show potential benefits of utilizing a blood management program with dual surgeons in spinal deformity cases.

Analysis of maternal risk factors associated with congenital vertebral malformations.

STUDY DESIGN: A retrospective medical record review of cases with congenital vertebral malformations (CVMs) and controls with normal spine morphology. OBJECTIVE: To determine the relative contribution of maternal environmental factors (MEFs) during pregnancy to CVM development. SUMMARY OF BACKGROUND DATA: CVMs represent defects in formation and segmentation of somites occurring with an estimated incidence of between 0.13 and 0.50 per 1000 live births. CVMs may be associated with various phenotypes and represent significant morbidity due to pain and cosmetic disfigurement. METHODS: A multicenter retrospective medical record review of 229 cases with CVM and 267 controls with normal spine morphology between the ages of 1 and 50 years was performed to obtain the odds ratio (OR) of MEF related to CVM among cases versus controls. An imputation-based analysis was performed in which subjects with no documentation of MEF history were treated as "no maternal exposure." Univariate and multivariate analyses were conducted to calculate the OR. RESULTS: Of the 229 total cases, 104 cases had single or multiple CVMs without additional congenital malformations (group 1) and 125 cases had single or multiple CVMs and additional congenital malformations (group 2). Nineteen percent of total cases had an identified MEF. The OR for MEF history for group 1 was 6.0 (95% confidence interval, 2.4-15.1; P < 0.001) in the univariate analysis. The OR for MEF history in group 2 was 9.1 (95% confidence interval, 3.8-21.6, P < 0.001) in the univariate analysis. The results were confirmed in the multivariate analysis after adjusting for age, sex, and institution. CONCLUSIONS: These results support a hypothesis for an association between these MEFs during pregnancy and CVM and have implications for development of prevention strategies. Further prospective studies are needed to quantify association between CVMs and specific MEF. LEVEL OF EVIDENCE: 4.

Relationships among specific viral pathogens, virus-induced interleukin-8, and respiratory symptoms in infancy.

Both virus-mediated damage to airway tissues and induction of pro-inflammatory cytokines such as interleukin-8 (IL-8) could contribute to symptom severity during viral respiratory infections in children. To test the hypothesis that IL-8 contributes to the pathogenesis of respiratory symptoms during naturally acquired respiratory viral infections in children, nasal wash samples collected from infants with acute viral infections (n = 198) or from healthy uninfected infants (n = 31) were analysed for IL-8. Nasal wash IL-8 was positively related to age in uninfected children (rs = 0.36, p < 0.05). Respiratory syncytial virus (RSV) infection caused more severe respiratory symptoms compared to infections with influenza A, parainfluenza viruses, or rhinoviruses. In addition, RSV, parainfluenza and rhinovirus infections increased levels of IL-8 in nasal lavage fluid, and there were some differences in the ability of the viruses to induce IL-8 production (RSV>influenza, p < 0.05). Finally, there were significant correlations between nasal wash IL-8 levels and symptom scores during infections with rhinovirus (rs = 0.56, p < 0.001) or influenza A (rs = 0.45, p < 0.05), but not with parainfluenza virus or RSV. These findings provide evidence of a close relationship between the generation of IL-8 and symptoms during acute community-acquired infections with rhinovirus or influenza A. In contrast, for RSV and parainfluenza infections, factors in addition to IL-8 production appear to contribute to the generation of clinical symptoms.