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.

The relationships between asthma control, daytime sleepiness, and quality of life among children with asthma: a path analysis.

OBJECTIVES: We aimed to examine the relationships between asthma control, daytime sleepiness, and asthma-specific health-related quality of life (HRQOL) among children with asthma. Path analyses were conducted to test if daytime sleepiness can mediate the effect of asthma control status on asthma-specific HRQOL. METHODS: 160 dyads (pairs) of asthmatic children and their parents were collected for analyses. The Asthma Control and Communication Instrument (ACCI) was used to categorize adequate and poor asthma control status. The Cleveland Adolescent Sleepiness Questionnaire (CASQ) was used to measure children's daytime sleepiness, including sleep in school, awake in school, sleep in evening, and sleep during transport. The Patient-Reported Outcomes Measurement Information System (PROMIS) Asthma Impact Scale was used to measure asthma-specific HRQOL. RESULTS: Poorly controlled asthma was associated with daytime sleepiness and impaired asthma-specific HRQOL. Asthma control status was directly associated with asthma-specific HRQOL (P<.05), whereas sleep in school and sleep in evening domains of daytime sleepiness significantly mediated the relationship between poor asthma control and impaired HRQOL (P<.01). CONCLUSIONS: Asthma control status was associated with pediatric asthma-specific HRQOL, and the association was significantly mediated by daytime sleepiness. Healthcare providers need to address pediatric sleep needs related to poor asthma control to reduce the negative impact on HRQOL.

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.

The relationships between fatigue, quality of life, and family impact among children with special health care needs.

OBJECTIVE: To examine the relationships among pediatric fatigue, health-related quality of life (HRQOL), and family impact among children with special health care needs (CSHCNs), specifically whether HRQOL mediates the influence of fatigue on family impact. METHODS: 266 caregivers of CSHCNs were studied. The Pediatric Quality of Life Inventory Multidimensional Fatigue Scale, Pediatric Quality of Life Inventory Generic Scale, and Impact on Family Scale were used to measure fatigue, HRQOL, and family impact, respectively. Linear regressions were used to analyze the designated relationships; path analyses were performed to quantify the mediating effects of HRQOL on fatigue-family impact relationship. RESULTS: Although greater fatigue was associated with family impact (p < .05), the association was not significant after accounting for HRQOL. Path analyses indicated the direct effect of fatigue on family impact was not significant (p > .05), whereas physical and emotional functioning significantly mediated the fatigue-family impact relationship (p < .001). CONCLUSION: Fatigue is related to family impact among CSHCNs, acting through the impairment in HRQOL.

A 6-year-old girl with restricted upward gaze of her right eye.

Brown syndrome is an incomitant strabismus syndrome characterized by inability of the eye to elevate during adduction. • Primary Brown syndrome is thought to occur due to the inability of the superior oblique tendon to stretch.However, there are many secondary causes of this condition that must be ruled out. • Despite significant misalignment of the eyes during upgaze, patients with Brown syndrome usually do not have decreased vision or diplopia with primary gaze. • Unlike paralytic strabismus, forced duction tests demonstrate restriction and a Parks' three-step test does not demonstrate a paralytic muscle. Spontaneous resolution is frequent, and surgical management typically is not indicated because of the high incidence of postoperative symptomatic superior oblique palsy.