Challenging behavior in smith-lemli-opitz syndrome: Initial test of biobehavioral influences

Cognitive and Behavioral Neurology

Volumn 26, Issue 1, 2013, Pages 23-29

  Freeman, Kurt A ^a,b   Eagle, Rose ^a   Merkens, Louise S ^b   Sikora, Darryn ^a,b   Pettit Kekel, Kersti ^a,b   Nguyen Driver, Mina ^a,b   Steiner, Robert D ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

behavioral assessment; biobehavioral; challenging behavior; cholesterol; Smith Lemli Opitz syndrome

Indexed keywords

CHOLESTEROL;

AGGRESSION; ARTICLE; AUTOMUTILATION; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; DESTRUCTION; FEMALE; HUMAN; INFANT; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; SCHOOL CHILD; SMITH LEMLI OPITZ SYNDROME; STEREOTYPY;

ADOLESCENT; AGGRESSION; CHILD; CHILD BEHAVIOR; CHILD, PRESCHOOL; CHOLESTEROL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; SELF-INJURIOUS BEHAVIOR; SEVERITY OF ILLNESS INDEX; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84876360865     PISSN: 15433633     EISSN: 15370887     Source Type: Journal    
DOI: 10.1097/WNN.0b013e31828bf6d5     Document Type: Article

References (57)

1. Wassif CA, Maslen C, Kachilele-Linjewile S, et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet. 1998;63:55-62.
2. Waterham HR, Wijburg F, Hennekam RC, et al. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet. 1998;63:329-338.
3. Fitzky BU, Witsch-Baumgartner M, Erdel M, et al. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA. 1998;95:8181-8186.
4. Sikora DM, Ruggiero M, Petit-Kekel K, et al. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr. 2004;114:783-791.
5. Tint GS, Salen G, Batta AK, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995;127:82-87.
6. Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, et al. Muta-tional spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet. 2000;66:402-412.
7. Kelley RI. A new face for an old syndrome. Am J Med Genet. 1997;65:251-256.
8. Opitz JM. RSH (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr. 1999;11:353-362.
9. Ryan AK, Bartlett K, Clayton P, et al. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet. 1998;35:558-565.
10. Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with Smith-Lemli-Opitz syndrome. N Engl J Med. 1994;330:107-113.
11. Sikora DM, Pettit-Kekel K, Penfield J, et al. The near-universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz Syndrome. Am J Med Genet. 2006;104A:1511-1518.
12. Tierney E, Nwokoro NA, Porter FD, et al. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 2001;98:191-200.
13. Roaldset JO, Bakken AM, Bjorkly S. A prospective study of lipids and serotonin as risk markers of violence and self-harm in acute psychiatric patients. Psych Res. 2011;186:293-299.
14. Atmaca M, Kuloglu M, Tezcan E, et al. Serum leptin and cholesterol values in violent and non-violent suicide attempters. Psych Res. 2008;158:87-91.
15. Weidner G, Connor SL, Gerhard GT, et al. The effects of dietary cholesterol-lowering on psychological symptoms: a randomised controlled study. Psychol Health Med. 2009;14:255-261.
16. Battaile K, Battaile B, Merkens L, et al. Carrier frequency of the common mutation IVS8-1G.C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2001;72:67-71.
17. Lowry RB, Yong SL. Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet. 1980;5:137-143.
18. Mace FC, Mauk JE. Bio-behavioral diagnosis and treatment of self-injury. Ment Retard Dev Disabil Res Rev. 1995;1:104-110.
19. Iwata BA, Vollmer TR, Zarcone JR, et al. Treatment classification and selection based on behavioral function. In: Van Houten R, Axelrod S, eds. Behavior Analysis and Treatment. New York: Plenum; 1998:101-125.
20. Didden R, Korzilius H, Curfs L. Skin-picking in individuals with Prader-Willi syndrome: prevalence, functional assessment, and its co-morbidity with compulsive and self-injurious behaviors. J Appl Res Intellect Disabil. 2007;20:409-419.
21. Moss J, Oliver C, Hall S, et al. The association between environmental events and self-injurious behavior in Cornelia de Lange syndrome. J Intellect Disabil Res. 2005;49:269-277.
22. Olson L, Houlihan D. A review of behavioral treatments used for Lesch-Nyhan syndrome. Behav Modif. 2000;24:202-222.
23. Taylor L, Oliver C. The behavioural phenotype of Smith-Magenis syndrome: evidence for a gene-environment interaction. J Intellect Disabil Res. 2008;52:1-12.
24. Steiner RD, Linck LM, Flavell DP, et al. Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production. J Lipid Res. 2000;41:1437-1447.
25. Merkens LS, Connor WE, Linck LM, et al. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Pediatr Res. 2004;56:726-732.
26. Thompson T, Gray DB. Destructive Behavior in Developmental Disabilities: Diagnosis and Treatment. Sage Focus Editions. Thousand Oaks, CA: Sage; 1994:24-48.
27. Emerson E, Kiernan C, Alborz A, et al. The prevalence of challenging behavior: a total population study. Res Dev Disabil. 2001;22:77-93.
28. Durand VM, Crimmins DB. Motivation Assessment Scale Administration Guide. Syracuse, NY: Program Development Associates; 1992.
29. Durand VM, Crimmins DB. Identifying the variables maintaining self-injurious behaviors. J Autism Dev Disord. 1988;18:99-117.
30. Haas D, Garbade SF, Vohwinkel C, et al. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis. 2007;30:375-387.
31. Irons M, Elias ER, Abuelo D, et al. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997;68:311-314.
32. Thorndike RL, Hagen EP, Sattler JM. Stanford-Binet Intelligence Scale. 4th ed. Rolling Meadows, IL: Riverside Publishing Co; 1986.
33. Mullen EM. Mullen Scales of Early Learning. Circle Pines, MN: American Guidance Service; 1995.
34. Richler J, Bishop SL, Kleinke JR, et al. Restricted and repetitive behaviors in young children with autism spectrum disorders. J Autism Dev Disord. 2007;37:73-85.
35. Bishop SL, Guthrie W, Coffing M, et al. Convergent validity of the Mullen Scales of Early Learning and the differential ability scales in children with autism spectrum disorders. Am J Intellect Dev Disabil. 2011;116:331-343.
36. Saloviita T. The structure and correlates of self-injurious behavior in an institutional setting. Res Dev Disabil. 2000;21:501-511.
37. Baghdadli A, Pascal C, Grisi S, et al. Risk factors for self-injurious behaviours among 222 young children with autistic disorders. J Intellect Disabil Res. 2003;47:622-627.
38. Iwata BA, Pace GM, Dorsey MF, et al. The functions of self-injurious behavior: an experimental-epidemiological analysis. J Appl Behav Anal. 1994;27:215-240.
39. LeBlanc LA, Patel MR, Carr JE. Recent advances in the assessment of aberrant behavior maintained by automatic reinforcement in individuals with developmental disabilities. J Behav Ther Exp Psychiatry. 2000;31:137-154.
40. Zarcone JR, Lindauer SL, Morse PS, et al. Effects of risperidone on destructive behavior of persons with developmental disabilities: III. functional analysis. Am J Ment Retard. 2004;109:310-321.
41. Hall SS. Comparing descriptive, experimental and informant-based assessments of problem behaviors. Res Dev Disabil. 2005;26:514-526.
42. Wasano LC, Borrano JC, Kohn CS. Brief report: a comparison of indirect versus experimental strategies for the assessment of pica. J Autism Dev Disord. 2009;39:1582-1586.
43. Duker PC, Sigafoos J. The motivation assessment scale: reliability and construct validity across three topographies of behavior. Res Dev Disabil. 1998;19:131-141.
44. Crawford J, Bockel B, Schauss S, et al. A comparison of methods for the functional assessment of stereotypic behavior. J Assoc Pers Sev Handicaps. 1992;17:77-86.
45. Zarcone JR, Rodgers TA, Iwata BA, et al. Reliability analysis of the motivation assessment scale: A failure to replicate. Res Dev Disabil. 1991;12:349-360.
46. Singafoos J, Kerr M, Roberts D. Interrater reliability of the motivation assessment scale: failure to replicate with aggressive behavior. Res Dev Disabil. 1994;15:333-342.
47. Teunissen CE, Dijkstra CD, Polman CH, et al. Decreased levels of the brain specific 24S-hydroxycholesterol and cholesterol precursors in serum of multiple sclerosis patients. Neurosci Lett. 2003;347:159-162.
48. Elias ER, Irons MB, Hurley AD, et al. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet. 1997;68:305-310.
49. Martin A, Koenig K, Scahill L, et al. Smith-Lemli-Opitz syndrome (letters to the editor). J Am Acad Child Adolesc Psychiatry. 2001;40:506-507.
50. Nowaczyk MJ, Whelan DT, Heshka TW, et al. Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. CMAJ. 1999;161:165-170.
51. Sidener TM, Carr JE, Firth AM. Superimposition and withholding of edible consequences as treatment for automatically reinforced stereotypy. J Appl Behav Anal. 2005;38:121-124.
52. Dietschy JM, Turley SD. Cholesterol metabolism in the central nervous system during early development and in the mature animal. J Lipid Res. 2001;45:1-23.
53. Tierney E, Conley SK, Goodwin H, et al. Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet. 2010;152A:91-95.
54. Wassif CA, Krakowiak PA, Wright BS, et al. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab. 2005;85:96-107.
55. Irons M, Elias RE, Tint GS, et al. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of the clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994;50:347-352.
56. Nwokoro NA, Mulvihill JJ. Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am J Med Genet. 1997;68:315-321.
57. Korade Z, Xu L, Shelton R, et al. Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. J Lipid Res. 2010;51:3259-3269.