Case Report

Improvement in Impaired Social Cognition but Not Seizures by Everolimus in a Child with Tuberous Sclerosis-Associated Autism through Increased Serum Antioxidant Proteins and Oxidant/Antioxidant Status

Table 1

Clinical characteristics of the case.

AgeFemale, 8 years
Age at onset of ASD6 years
MRI or echo(i) AML on bilateral kidneys
(ii) SEN left on the anterior horn of lateral ventricle
ASD features(i) Impaired communication
(ii) Wrapping up doll play with repeated finger-sucking.
ADI-R scoreADI-R
Reciprocal interaction: 21
Communication: 19
Repetitive behaviors: 13
Total scores of SRS and ABCSRS: 50
ABC: 107
WISC IQ67
Everolimus doses2.5 mg/day for 24 weeks
ResultsABC score: 50% decrease
SRS score: 26% decrease
Social response and repetitive behaviors were improved
Serum levels of Tf and CpSerum Cp and Tf levels increased from baseline to 24 weeks of treatment in accordance with symptom improvement
Serum levels of TP, ox-LDL, and creatineSerum TAP levels showed trend toward opposite decreased ABC scores
Serum creatine levels showed no definite alteration

AML: angiomyolipomas; SEN: subependymal nodule; ADI-R; Autism Diagnostic Interview-Revised; ABC: Aberrant Behavior Checklist; SRS: Social Responsiveness Scale; Cp: ceruloplasmin; Tf: transferrin; TAP: total antioxidant power; ox-LDL: oxidized low-density lipoprotein.