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, gene...

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Bibliographic Details
Published in:Journal of pediatric health care 2015-01, Vol.29 (1), p.97-103
Main Authors: Kelly, Maria N., MD, Tuli, Sanjeev Y., MD, Tuli, Sonal S., MD, Stern, Mori A., MD, Giordano, Beverly P., MS, RN, CPNP, PMHS
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Advanced Practice Nursing
autosomal recessive
Child, Preschool
cholesterol
developmental delays
Humans
Infant, Newborn
Inherited metabolic error
Male
Microcephaly - diagnosis
Nursing
Oxidoreductases Acting on CH-CH Group Donors - blood
Oxidoreductases Acting on CH-CH Group Donors - genetics
Pediatrics
Siblings
Smith-Lemli-Opitz Syndrome - diagnosis
Smith-Lemli-Opitz Syndrome - genetics
Smith-Lemli-Opitz Syndrome - pathology
Smith-Lemli-Opitz Syndrome - therapy
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Summary: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.
ISSN:0891-5245
1532-656X
DOI:10.1016/j.pedhc.2014.04.006