Mark J Merkens1, Nancy L Sinden2, Christine D Brown2, Louise S Merkens3, Jean-Baptiste Roullet3, Thuan Nguyen4, Robert D Steiner5. 1. Institute on Development and Disability, Oregon Health & Science University, Portland, OR; Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR. Electronic address: merkensm@ohsu.edu. 2. Institute on Development and Disability, Oregon Health & Science University, Portland, OR. 3. Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR. 4. Department of Medicine, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR; Department of Public Health and Preventive Medicine, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR. 5. Institute on Development and Disability, Oregon Health & Science University, Portland, OR; Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR; Department of Molecular and Medical Genetics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR.
Abstract
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.
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.
Authors: Kurt A Freeman; Rose Eagle; Louise S Merkens; Darryn Sikora; Kersti Pettit-Kekel; Mina Nguyen-Driver; Robert D Steiner Journal: Cogn Behav Neurol Date: 2013-03 Impact factor: 1.600
Authors: Kurt A Freeman; Erin Olufs; Megan Tudor; Jean-Baptiste Roullet; Robert D Steiner Journal: J Dev Behav Pediatr Date: 2016-06 Impact factor: 2.225