Determining the impact of a clinic coordinator on patient access and clinic efficiency in a pediatric multidisciplinary spina bifida clinic using medical informatics.

PURPOSE: The objective of this study was to analyze the effects on patient access by decreasing missed appointments after hiring a clinic coordinator using medical informatics. METHODS: A single-center retrospective analysis of the rates of missed appointments before and after hiring a clinic coordinator in a multidisciplinary spinal differences clinic were analyzed using a commercially available business software system (SAP® Business Objects). The total number of clinic visits was collected for each month to determine the access available for patients. RESULTS: The median number of missed appointments per clinic by month before employing the clinic coordinator was higher than in the two years following implementation (p < 0.0005). No differences were seen in the number of available appointment slots per month indicating no new clinics were needed to improve patient access (p = 0.551). Projected billing amounts prior to hiring the clinic coordinator indicated that $91,520 was lost in the 2 years prior to hiring this coordinator compared to $30,160 lost during the 2 years following the creation of this position (p = 0.0009). CONCLUSION: Hiring a clinic coordinator decreased the rate of missed appointments and was a cost-efficient intervention to improve patient access and provide effective patient care in a multidisciplinary setting.

Mercy TAPE for Calculation-Free Height Estimation in Pediatric Rehabilitation Patients.

BACKGROUND: In children, height is an essential element of a pediatric assessment, yet this measure is less likely to occur in nonambulatory children or those with unique disabilities. There is compelling support for surrogate measures; however, many of these are accompanied by limitations. OBJECTIVE: This study was conducted to evaluate whether the U.S. Food and Drug Administration (FDA)-cleared Mercy TAPE could be adopted for height estimation. DESIGN: Development and external validation of a height-estimation method were conducted with retrospectively collected data in nonrehabilitation children. Testing of the model was performed prospectively in a pediatric rehabilitation population. SETTING: U.S. pediatric rehabilitation outpatient clinic. PARTICIPANTS: Data from 19 407 children were used to develop the model. Data from an independent cohort of 1472 children were used for external validation, and the model was tested in 195 pediatric rehabilitation patients. Of the 195 patients, 57% required no wheelchair, 18% could ambulate independently for short distances, 17% could ambulate with an assistive device, and 8% were full-time wheelchair users. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASUREMENTS: Relative error (RE), percentage error (PE), and percent predicted within 10% and 20% of actual height. RESULTS: Height estimated with the modified Mercy TAPE was highly predictive of actual height in nonrehabilitation children in the United States (RE [mean ± SD]: 1.1 ± 5.7 cm; PE [mean ± SD]: 1.0 ± 4.7%). In rehabilitation patients, height was underestimated to a greater extent (RE [mean ± SD]: 3.0 ± 7.4 cm; PE [mean ± SD]: -2.1 ± 5.6%). CONCLUSIONS: The Mercy TAPE offers a reasonable approximation of height in ambulatory children, although it slightly underestimates height in the pediatric rehabilitation population. Consequently, this and other surrogate measures may be less suited to examining growth against a reference ambulatory population and more suited to following individual children over time.

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.

OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva. RESULTS: A novel heterozygous nonsense mutation (c.1140C>A; p.Y380X) in SOX10 was identified in the affected sisters. Paternal mosaicism was suspected based on a small chromatogram peak, which was less than the heterozygous peak of the mutated allele. Consistent with mosaicism, the mosaic paternal samples had notable variability in the ratio of mutant vs wild-type allele in various tissues (compared with the fully heterozygous daughter), with the highest paternal mutant levels in saliva (32.7%) and lowest in dermal fibroblasts (13.9%). Targeted clinical re-examination of the father revealed a sensorimotor neuropathy that was previously clinically unrecognized. CONCLUSIONS: These findings expand the phenotypic spectrum of SOX10-related neurocristopathy. Mutations in SOX10 should be considered in patients presenting with a complicated form of hereditary spastic paraplegia that includes neuropathy and deafness. Diagnostic workup may be complicated, as SOX10 mutations can present in a mosaic state, with a mild clinical manifestation.

Improvement in survival and muscle function in an mdx/utrn(-/-) double mutant mouse using a human retinal dystrophin transgene.

Duchenne muscular dystrophy is a progressive muscle disease characterized by increasing muscle weakness and death by the third decade. mdx mice exhibit the underlying muscle disease but appear physically normal with ordinary lifespans, possibly due to compensatory expression of utrophin. In contrast, double mutant mice (mdx/utrn(-/-)), deficient for both dystrophin and utrophin die by approximately 3 months and suffer from severe muscle weakness, growth retardation, and severe spinal curvature. The capacity of human retinal dystrophin (Dp260) to compensate for the missing 427 kDa muscle dystrophin was tested in mdx/utrn(-/-) mice. Functional outcomes were assessed by histology, EMG, MRI, mobility, weight and longevity. MCK-driven transgenic expression of Dp260 in mdx/utrn(-/-) mice converts their disease course from a severe, lethal muscular dystrophy to a viable, mild myopathic phenotype. This finding is relevant to the design of exon-skipping therapeutic strategies since Dp260 lacks dystrophin exons 1-29.