Brothers with Smith-Lemli-Opitz syndrome.

Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers.

Developing item banks for measuring pediatric generic health-related quality of life: an application of the International Classification of Functioning, Disability and Health for Children and Youth and item response theory.

The purpose of this study was to develop item banks by linking items from three pediatric health-related quality of life (HRQoL) instruments using a mixed methodology. Secondary data were collected from 469 parents of children aged 8-16 years. The International Classification of Functioning, Disability and Health-Children and Youth (ICF-CY) served as a framework to compare the concepts of items from three HRQoL instruments. The structural validity of the individual domains was examined using confirmatory factor analyses. Samejima's Graded Response Model was used to calibrate items from different instruments. The known-groups validity of each domain was examined using the status of children with special health care needs (CSHCN). Concepts represented by the items in the three instruments were linked to 24 different second-level categories of the ICF-CY. Eight item banks representing eight unidimensional domains were created based on the linkage of the concepts measured by the items of the three instruments to the ICF-CY. The HRQoL results of CSHCN in seven out of eight domains (except personality) were significantly lower compared with children without special health care needs (p<0.05). This study demonstrates a useful approach to compare the item concepts from the three instruments and to generate item banks for a pediatric population.

Application of the resource-based relative value scale system to pediatrics.

The majority of public and private payers in the United States currently use the Medicare Resource-Based Relative Value Scale as the basis for physician payment. Many large group and academic practices have adopted this objective system of physician work to benchmark physician productivity, including using it, wholly or in part, to determine compensation. The Resource-Based Relative Value Scale survey instrument, used to value physician services, was designed primarily for procedural services, leading to current concerns that American Medical Association/Specialty Society Relative Value Scale Update Committee (RUC) surveys may undervalue nonprocedural evaluation and management services. The American Academy of Pediatrics is represented on the RUC, the committee charged with maintaining accurate physician work values across specialties and age groups. The Academy, working closely with other primary care and subspecialty societies, actively pursues a balanced RUC membership and a survey instrument that will ensure appropriate work relative value unit assignments, thereby allowing pediatricians to receive appropriate payment for their services relative to other services.

Comparison of 4 Pediatric Health-Related Quality-of-Life Instruments: A Study on a Medicaid Population.

BACKGROUND: Few studies have compared multiple health-related quality-of-life (HRQOL) instruments simultaneously for pediatric populations. This study aimed to test psychometric properties of 4 legacy pediatric HRQOL instruments: the Child Health and Illness Profile (CHIP), the KIDSCREEN-52, the KINDL, and the Pediatric Quality of Life Inventory (PedsQL). METHODS: This study used data from 908 parents whose children (ages 2-19 years) were enrolled in Florida Medicaid. Parents were asked via telephone interview to complete each instrument appropriate to the age of their children. Structural, convergent/discriminant, and known-group validities were investigated. We examined structural validity using confirmatory factor analyses. We examined convergent/discriminant validity by comparing Spearman rank correlation coefficients of homogeneous (physical functioning and physical well-being) versus heterogeneous (physical and psychological functioning) domains of the instruments. We assessed known-groups validity by examining the extent to which HRQOL differed by the status of children with special health needs (CSHCN). RESULTS: Domain scores of the 4 instruments were not normally distributed, and ceiling effects were significant in most domains. The KIDSCREEN-52 demonstrates the best structural validity, followed by the CHIP, KINDL, and PedsQL. The PedsQL and the KIDSCREEN-52 show better convergent/discriminant validity than the other instruments. Known-groups validity in discriminating CSHCN versus no needs was the best for the PedsQL, followed by the KIDSCREEN-52, the CHIP, and the KINDL. CONCLUSION: No one instrument was fully satisfactory in all psychometric properties. Strategies are recommended for future comparison of item content and measurement properties across different HRQOL instruments for research and clinical use.

Stable pediatric kidney transplant recipients run higher urine indoleamine 2, 3 dioxygenase (IDO) levels than healthy children.

Immune cells utilize the IDO enzymatic conversion of trp to kyn to determine T-cell activation vs. anergy/apoptosis. In prior studies, urine IDO levels were higher in rejecting renal allografts than in stable state. However, urine IDO levels in healthy subjects or children are unknown. As a corollary to a larger longitudinal and prospective study of serum and urine IDO levels for transplant immune monitoring, here, we analyzed the difference between urine IDO levels in stable post-transplant vs. healthy children. IDO levels were measured by tandem mass spectrometry and expressed as kyn/trp ratios. We compared one-time urine samples, from 34 well children at general pediatric clinics, to the first-month post-transplant urine samples from 18 children, while in stable state (no acute rejection or major infection event in next 30 days). Urine kyn/trp ratios were significantly higher in stable children in first-month post-kidney transplant (median 16.6, range 3.9-44.0) vs. healthy children (median 9.2, range 3.51-17.0; p = 0.0057 by nonparametric Mann-Whitney test). Higher urine IDO levels even with stable transplant suggest a continuous ongoing low-grade allorecognition/inflammatory process. Our data also provide baseline urine IDO levels in healthy subjects for use in future studies.

Symptomatic atlantoaxial instability in an adolescent with trisomy 21 (Down's syndrome).

Atlantoaxial instability (AAI) occurs in 15% of children with Trisomy 21. Health supervision guidelines were revised by the American Academy of Pediatrics in 2011 to reflect advances in care for children with special health care needs (CSHCN). Previous guidelines recommended cervical spine radiological screenings in preschool years to evaluate for atlantoaxial instability. For patients with negative screening, re-screening was recommended if they wished to compete in the Special Olympics, or became symptomatic. We present the case of an adolescent who developed a symptomatic atlantoaxial dislocation despite previous negative radiological screening at the age three (under the 2001 guidelines). This case report highlights the revisions in the 2011 guidelines for health supervision and anticipatory guidance. It underlines the need for a high index of suspicion if symptoms develop. It also addresses the need for a medical home for CSHCN, with health care providers who know the child's baseline health status.

Pediatric residents' learning styles and temperaments and their relationships to standardized test scores.

BACKGROUND: Board certification is an important professional qualification and a prerequisite for credentialing, and the Accreditation Council for Graduate Medical Education (ACGME) assesses board certification rates as a component of residency program effectiveness. To date, research has shown that preresidency measures, including National Board of Medical Examiners scores, Alpha Omega Alpha Honor Medical Society membership, or medical school grades poorly predict postresidency board examination scores. However, learning styles and temperament have been identified as factors that 5 affect test-taking performance. The purpose of this study is to characterize the learning styles and temperaments of pediatric residents and to evaluate their relationships to yearly in-service and postresidency board examination scores. METHODS: This cross-sectional study analyzed the learning styles and temperaments of current and past pediatric residents by administration of 3 validated tools: the Kolb Learning Style Inventory, the Keirsey Temperament Sorter, and the Felder-Silverman Learning Style test. These results were compared with known, normative, general and medical population data and evaluated for correlation to in-service examination and postresidency board examination scores. RESULTS: The predominant learning style for pediatric residents was converging 44% (33 of 75 residents) and the predominant temperament was guardian 61% (34 of 56 residents). The learning style and temperament distribution of the residents was significantly different from published population data (P  =  .002 and .04, respectively). Learning styles, with one exception, were found to be unrelated to standardized test scores. CONCLUSIONS: The predominant learning style and temperament of pediatric residents is significantly different than that of the populations of general and medical trainees. However, learning styles and temperament do not predict outcomes on standardized in-service and board examinations in pediatric residents.

Optic nerve findings in CHILD syndrome.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The authors present the first report of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy.