The Experts below are selected from a list of 24804 Experts worldwide ranked by ideXlab platform
William E. Connor - One of the best experts on this subject based on the ideXlab platform.
-
cholesterol supplementation does not improve Developmental Progress in smith lemli opitz syndrome
The Journal of Pediatrics, 2004Co-Authors: Darryn M Sikora, Louise S. Merkens, Mark Ruggiero, Kersti Petitkekel, William E. ConnorAbstract: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.
Darryn M Sikora - One of the best experts on this subject based on the ideXlab platform.
-
cholesterol supplementation does not improve Developmental Progress in smith lemli opitz syndrome
The Journal of Pediatrics, 2004Co-Authors: Darryn M Sikora, Louise S. Merkens, Mark Ruggiero, Kersti Petitkekel, William E. ConnorAbstract: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.
Elaine Spector - One of the best experts on this subject based on the ideXlab platform.
-
neuroDevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia
The Journal of Pediatrics, 2016Co-Authors: Kendra Bjoraker, Michael A Swanson, Curtis R Coughlin, John Christodoulou, Ee S Tan, Mark Fergeson, Sarah Dyack, Ayesha Ahmad, Marisa W Friederich, Elaine SpectorAbstract:Objective To evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with the attenuated form of nonketotic hyperglycinemia. Study design Families were recruited with 2 siblings both affected with attenuated nonketotic hyperglycinemia. Genetic mutations were expressed to identify residual activity. The outcome on Developmental Progress and seizures was compared between the first child diagnosed and treated late with the second child diagnosed at birth and treated aggressively from the newborn period using dextromethorphan and benzoate at dosing sufficient to normalize plasma glycine levels. Both siblings were evaluated with similar standardized neuroDevelopmental measures. Results In each sibling set, the second sibling treated from the neonatal period achieved earlier and more Developmental milestones, and had a higher Developmental quotient. In 3 of the 4 sibling pairs, the younger sibling had no seizures whereas the first child had a seizure disorder. The adaptive behavior subdomains of socialization and daily living skills improved more than motor skills and communication. Conclusions Early treatment with dextromethorphan and sodium benzoate sufficient to normalize plasma glycine levels is effective at improving outcome if used in children with attenuated disease with mutations providing residual activity and when started from the neonatal period.
Louise S. Merkens - One of the best experts on this subject based on the ideXlab platform.
-
cholesterol supplementation does not improve Developmental Progress in smith lemli opitz syndrome
The Journal of Pediatrics, 2004Co-Authors: Darryn M Sikora, Louise S. Merkens, Mark Ruggiero, Kersti Petitkekel, William E. ConnorAbstract: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.
Kersti Petitkekel - One of the best experts on this subject based on the ideXlab platform.
-
cholesterol supplementation does not improve Developmental Progress in smith lemli opitz syndrome
The Journal of Pediatrics, 2004Co-Authors: Darryn M Sikora, Louise S. Merkens, Mark Ruggiero, Kersti Petitkekel, William E. ConnorAbstract: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.