Aspects of autism spectrum disorder and correlation with neuroimaging findings in tuberous sclerosis complex

• Published in: Clinical neurology and neurosurgery Vol. 224; p. 107550
• Main Authors: Dedeoğlu, Özge, Çetinkaya, Miray, Emine Derinkuyu, Betül, Aksoy, Erhan, Öztoprak, Ülkühan, Genç Sel, Çiğdem, Nursun Özcan, Hatice, Aksoy, Ayşe, Yüksel, Deniz
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01-01-2023; Elsevier Limited
• Subjects: Age; Autism; Autism Spectrum Disorder; Autism Spectrum Disorder - diagnostic imaging; Brain - diagnostic imaging; Brain - pathology; Child; Cognitive ability; Convulsions & seizures; Disease; Epilepsy; Epilepsy - pathology; Humans; Intellectual disabilities; Localization; Magnetic Resonance Imaging; Mutation; Neuroimaging; Neurology; Normal distribution; Patients; Pediatrics; Prefrontal cortex; Tuberosclerosis Complex Disease; Tuberous sclerosis; Tuberous Sclerosis - complications; Tuberous Sclerosis - diagnostic imaging; Tuberous Sclerosis - genetics; Tuberous Sclerosis Complex 2; Magnetic Resonance Imaging; Autism Spectrum Disorder; ASD; Tuberosclerosis Complex Disease; TSC; MRI
• ISSN: 0303-8467; 1872-6968
• DOI: 10.1016/j.clineuro.2022.107550

Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD.
We evaluated 34 TSC patients on the basis of DSM-V diagnostic criteria for ASD, Wechsler Intelligence Scale for Children (WISC-R), psychiatrist’s examination and also structured parent interviews. The number and localization of the tubers, postcontrast signal characteristics of the tubers, SWI findings, DWI findings on brain MRI were recorded. Demographic features, epilepsy histories, number of antiseizure medications, cognitive status were eveluated also. Patients were divided into two groups: ASD group, which represented group 1 and group 2 consisting of patients without any ASD symptoms.
In our study, the mean number of tuber count was 21.8 in patients with ASD patients (Group 1, n = 13) and 12.4 in other TSC patients without ASD (Group 2, n = 21). Rate of tubers in prefrontal cortex/whole tubers (0.51) in patients with ASD was determined to be higher in group 1 (p = 0.003). Also a significant difference was detected between generalize epileptiform activities on EEG and the rate of DRE (p = 0.002; p = 0.001) between groups. Cognitive disturbances and infantile spasm history were similar between groups. TSC2 mutations have been identified in 29 (86%) patients.
The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be higher in TSC patients with ASD. Specific areas on brain MRI may help understanding the development of ASD in TSC patients.
•Specific areas on brain MRI may help understanding the development of ASD in TSC patients.•The mean of total tuber count was determined to be higher in TSC patients with ASD.•Tubers tend to settle in the prefrontal cortex in TSC patients with ASD.•Generalized epileptiform activities on EEG and the rate of drug resistant epilepsy were more common in TSC patients with ASD.