Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome.
OBJECTIVE
Smith-Lemli-Opitz syndrome (SLOS) results in multiple malformations, growth deficiency, and mental retardation. Cholesterol supplementation has been used for several years to treat symptoms of SLOS. We assessed the developmental progress of children and adolescents with SLOS over a 6-year period.


METHODS
Patients with SLOS (n=14) received continuous cholesterol supplementation as part of a longitudinal study. Assessment of their developmental progress in the areas of cognitive, motor, and adaptive skills occurred every 6 to 12 months. The progress of each subject over time and the progress of the group as a whole were analyzed by using a repeated-measures design and multiple t tests.


RESULTS
Developmental quotients did not improve over time for children with SLOS receiving cholesterol. In addition, baseline cholesterol levels, rather than age when supplementation began or increase in cholesterol levels, best predicted developmental outcome.


CONCLUSIONS
These results suggest that cholesterol supplementation in its current form does not improve the developmental progress of children and adolescents with SLOS.
Sikora
Darryn M
DM
Departments of Pediatrics, Doernbecher Children's Hospital, Portland, Oregon, USA. sikorad@ohsu.edu
Ruggiero
Mark
M
Petit-Kekel
Kersti
K
Merkens
Louise S
LS
Connor
William E
WE
Steiner
Robert D
RD
D000293:Adolescent; D000704:Analysis of Variance; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood / Q000627:therapeutic use*; D002791:Cholesterol, Dietary / Q000627:therapeutic use*; D002658:Developmental Disabilities / Q000209:etiology / Q000517:prevention & control*; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011446:Prospective Studies; D019082:Smith-Lemli-Opitz Syndrome / Q000178:diet therapy*; D016896:Treatment Outcome
D002791:Cholesterol, Dietary; D002784:Cholesterol