Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.

OBJECTIVE: To quantitatively evaluate feeding impairment in children with Smith-Lemli-Opitz syndrome (SLOS) and to correlate feeding impairment with clinical and biochemical indices of disease severity. STUDY DESIGN: The study subjects were 26 children with SLOS ranging in age from 0.4 to 19 years. Clinical severity was measured using an existing scoring system. We created a tool to quantitatively evaluate feeding. Plasma sterol concentrations were measured, and statistical associations (correlations) with feeding scores were calculated. RESULTS: Oral hyposensitivity or hypersensitivity, adverse behaviors, and risk for dysphagia were seen in ∼65% of the children with SLOS. Thirteen of the 26 children experienced failure to thrive, and 10 children required gastrostomy. Plasma concentration of 7-dehydrocholesterol, as a measure of severity, was correlated with total feeding score and oral function subcategory score (P < .001) and less so with oral structure score, adverse behaviors, or dysphagia. Correlations with cholesterol concentrations were less statistically significant. A plasma 7-dehydrocholesterol concentration >0.24 mmol/L or cholesterol concentration <1.95 mmol/L was predictive of gastrostomy tube use. Feeding impairments may improve with age. CONCLUSION: Feeding impairment is common and complex in patients with SLOS. Our findings confirm that oral sensitivities, adverse feeding behaviors, and risk of oral phase dysphagia are amenable to quantitative evaluation and analysis. Feeding difficulties in children with SLOS are correlated with plasma sterol concentrations, suggesting a link between the biochemical severity of SLOS and feeding function. These findings expand the behavioral phenotype of SLOS and begin to provide insight into the biological causes of feeding difficulties.

Specialty clinics for the dermatologic care of solid-organ transplant recipients.

BACKGROUND: Solid-organ transplant recipients constitute a complex patient population that experiences numerous and aggressive skin cancers. Proactive, comprehensive, ongoing, and effective dermatologic care of these patients is a necessity. OBJECTIVE: The objective of this study was to emphasize the need for organized dermatologic care for transplant recipients and to collect and present various proactive paradigms established in and designed for different practice settings to manage organ transplant recipients at high risk for skin cancer. METHODS: Information about practice setting, patient demographics, and the care model used was obtained through questionnaires sent to a selection of 12 physicians known to care for transplant recipients in various practice settings. RESULTS: All 12 physicians completed the questionnaire. The organized dermatologic care of transplant recipients occurs in three basic clinic settings: multidisciplinary transplant clinics, designated dermatology transplant subspecialty clinics, and integration of transplant recipient care within existing dermatology clinics. CONCLUSIONS: Various practice settings offer both advantages and disadvantages in providing preventive and therapeutic care of organ transplant recipients at risk for skin cancer. Regardless of the clinic design used, an organized and firmly established clinic model to allow proactive and ongoing care for these patients is important for education, prevention, and early intervention.