Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome

Darryn M. Sikora, Mark Ruggiero, Kersti Pettit-Kekel, Louise S. Merkens, William E. Connor, Robert D. Steiner

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

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. Study design 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.

Original languageEnglish (US)
Pages (from-to)783-791
Number of pages9
JournalJournal of Pediatrics
Volume144
Issue number6
DOIs
StatePublished - Jun 2004
Externally publishedYes

Fingerprint

Smith-Lemli-Opitz Syndrome
Cholesterol
Motor Skills
Intellectual Disability
Longitudinal Studies
Growth

Keywords

  • 7 dehydrocholesterol
  • 7-DHC
  • Central nervous system
  • CNS
  • Developmental quotient
  • DQ
  • GCRC
  • General Clinical Research Center
  • SLOS
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. / Sikora, Darryn M.; Ruggiero, Mark; Pettit-Kekel, Kersti; Merkens, Louise S.; Connor, William E.; Steiner, Robert D.

In: Journal of Pediatrics, Vol. 144, No. 6, 06.2004, p. 783-791.

Research output: Contribution to journalArticle

Sikora, Darryn M. ; Ruggiero, Mark ; Pettit-Kekel, Kersti ; Merkens, Louise S. ; Connor, William E. ; Steiner, Robert D. / Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. In: Journal of Pediatrics. 2004 ; Vol. 144, No. 6. pp. 783-791.
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abstract = "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. Study design 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.",
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AU - Connor, William E.

AU - Steiner, Robert D.

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N2 - 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. Study design 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.

AB - 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. Study design 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.

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