Free Essay

Slos Syndrome

In: Philosophy and Psychology

Submitted By dross827
Words 1189
Pages 5
Smith-Lemli-Opitz syndrome (SLOS) is an inherited metabolic disorder in which cholesterol is not synthesized properly. Without cholesterol, the body is not able to develop or function as it should. Symptoms of SLOS can vary significantly depending on the amount of cholesterol the body is able to produce. This disorder presents characteristics of dismorphic facial features, multiple congenital malformations, intellectual disabilities, and behavioral disorders. Currently there is not a cure for SLOS, however some symptoms can be surgically corrected and others can be managed with cholesterol supplements. SLOS is an autosomal recessive disorder that is caused by an inborn error of biosynthesis that results in severe cholesterol deficiency and the accumulation of 7-dehydrocholesterol (DHCR7) (Yu & Patel, 2005). In other words, SLOS is an inherited disorder that is passed down from parent to child. In order for a child to inherit the mutated DHCR7 gene, both parents have to be carriers of the trait and pass on a defective copy of the gene. In an article by Kelley and Hennekam (2000), they state that SLOS is a well known malformation syndrome with principle characteristics. SLOS seems to be more prominent in the Caucasian population of North European origin with a carrier frequency of 1 in 70 people (Malforzata, Whelan, Heshka, & Hill, 1999). People with an African or Japanese origin are less likely to inherit this syndrome. SLOS relates to anatomy and physiology in multiple aspects. With regards to cellular organization cholesterol is a protein and the body of a SLOS patient is unable to synthesize this protein properly. Cholesterol is vital for normal growth and development. It is found in every cell and has the ability to regulate cell membrane permeability. In other words, cholesterol is essential to the cell structure as it is needed to keep the contents of the cell membrane intact. Cholesterol has multiple biological functions as well. It is the major precursor for the synthesis of vitamin D, bile acids, various steroids and sex hormones and it is critical for embryonic development (Porter & Herman, 2011). During normal development of an embryo, the fetal tissue relies on endogenous synthesis of cholesterol. Liscum (2002) points out that a reduction in cholesterol synthesis affects fetal development because cholesterol is only obtained from the maternal circulation during the first trimester which in turn will affect the brain since plasma lipoproteins cannot cross the blood-brain barrier and the cholesterol that is needed for brain growth can only be synthesized locally. In SLOS, infants are born with a decreased body concentration of the enzyme DHCR7 reductase; this enzyme converts DHCR7 to cholesterol at the final stage of cholesterol synthesis by the removal of one double bond (Mouritsen & Zuckermann, 2004). With the inability to properly synthesis cholesterol, the deficiency affects the homeostatic state of a normal patient’s internal environment as cholesterol is essential for the body.
SLOS can have different effects on patients and signs and symptoms can vary dramatically depending on the amount of cholesterol they are able to produce. Individuals with a mild form of this disorder may only have minor physical abnormalities with minimal learning and behavioral problems while severe cases can be life-threatening and involve significant intellectual disabilities and major physical abnormalities (DeBarber, Eroglu, Merkens, Pappu, & Steiner, 2011). Microcephaly and dismorphic facial features such as a broad and high forehead, bilateral ptosis, epicanthal folds, broad nasal bridge with a short nasal root and anverted nares, small chin, midline cleft lip, and small and low set ears are common characteristics of SLOS (Kelley & Hennekam, 2000). Genital abnormalities are frequent in males and anomalies of the limbs are common in both sexes which may include short thumbs, syndactyly of the second and third toes, and postaxial polydactyly (Porter, 2008). There are also many internal deformities in a variety of organ systems that are also associated with SLOS. Cardiovascular, renal and adrenal, pulmonary, and gastrointestinal anomalies can vary significantly from mild to life-threatening depending on the severity of the disorder. Infants with multiple major congenital malformations often die in the perinatal period (DeBarber et al., 2011). Infants with a milder form of SLOS can have difficulties in feeding because of a poor or abnormal suck or swallow, vomiting, or a lack of interest in feeding itself. “Failure to thrive” (Kelley & Hennekam, 2000) is a widespread characteristic and can persist into childhood. In addition to physical abnormalities, SLOS patients also have intellectual disabilities and behavioral disorders. Infants can be irritable or prefer not to be held or they may sleep excessively and have poor responsiveness. As they get older, children become hyperactive or show self-injurious and aggressive behaviour (Kelley & Hennekam, 2000). There is also a delay in speech and most children learn to walk between two and four years of age. Currently there is not a cure for SLOS and a person’s life expectancy depends on the severity of this syndrome. Some patients may undergo surgical interventions to repair congenital deformities and “dietary cholesterol supplementation has become a standard potentially therapeutic intervention for individuals with SLOS” (DeBarber et al., 2011). Although cholesterol supplements are effective with some symptoms, Porter (2008) mentions that cholesterol supplements do not treat the biochemical defects in the brain because cholesterol does not cross the blood-brain barrier. One of the most beneficial nursing actions a nurse can perform while treating a patient with SLOS is nutritional counselling. It is essential for SLOS patients to consume a diet high in cholesterol which can help reduce some of the symptoms of this disorder. In order for this to be achieved, the patient needs to know what food items contain elevated amounts of cholesterol.
References
DeBarber, A. E., Eroglu, Y., Merkens, L. S., Pappu, A. S., & Steiner, R. D. (2011). Smith-Lemli- Opitz Syndrom. Expert Reviews in Molecular Medicine, 13(24). Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366105/
Kelley, R. I., & Hennekam, R. C. M. (2000). The smith-lemli-opitz syndrome. Journal of Medical Genetics, 37(5), 321-321. Retrieved from http://search.proquest.com/docview/ 205476592?accountid=35997
Liscum, L. (2002). Cholesterol biosynthesis. Biochemistry of lipids, lipoprotein, and membrane (4th Ed), Elsevier Science B. V. Ch 15, 409-431. Retrieved from http://bio.ijs.si/~krizaj/group/Predavanja%202011/ Biochemistry%20Lipids%20Lipoproteins%20and%20Membranes/15.pdf
Malforzata, M. J. M., Whelan, D. T., Heshka, T. W., & Hill, R. E. (1999). Smith-lemli- opitz syndrome: A treatable inherited error of metabolism causing mental retardation. Canadian Medical Association.Journal, 161(2), 165-70. Retrieved from http://search.proquest.com/docview/204791206?accountid=35997
Porter, F. D. (2008). Smith-lemli-opitz syndrome: Pathogenesis, diagnosis and management. European Journal of Human Genetics : EJHG, 16(5), 535-41. Retrieved from http://dx.doi.org/10.1038/ejhg.2008.10
Porter, F. D., & Herman, G. E. (2011). Malformation syndromes caused by disorders of cholesterol synthesis. Journal of Lipid Research, 52(1), 6-34. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999931/
Yu, H., & Patel, S. B. (2005). Recent insights into the Smith–Lemli–Opitz syndrome. Clinical Genetics, 68(5), 383-391. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/ articles/PMC1350989/

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