The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex.
OBJECTIVE
To clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (TSC) in Taiwan.


METHODS
Medical records from 32 patients with TSC were retrospectively reviewed, including mutational analysis, neuroimaging findings, electroencephalogram findings, and neuropsychiatric comorbidities.


RESULTS
Of these patients, six (18.75%) were diagnosed to have autism spectrum disorders (ASD), and 10 (31.25%) were diagnosed to have attention-deficit-hyperactivity disorder. In the latter patients, there were no differences in the regional distribution of tuber burden. In addition to a high prevalence of cystic-like tubers, tubers in insular and temporal areas were associated with ASD. Nonsense mutations in the TSC2 gene group had a correlation with autistic behavior. In 26 (81.25%) patients with a history of epilepsy, infantile spasms and partial seizures were the predominant type of epilepsy. Most of them developed seizures prior to age 1 year.


CONCLUSIONS
ASD is a common comorbidity in TSC. Cortical tubers in the temporal lobe and insular area were associated with ASD. The presence of cystic-like tubers on magnetic resonance imaging may also offer a structural marker for ASD in TSC.
Department of Pediatrics, Taipei City Hospital, Yang Ming Branch, Taipei, Taiwan.
Cheng-Hsien
CH
Huang
Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan.
Steven Shinn-Forng
SS
Peng
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Wen-Chin
WC
Weng
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Yi-Ning
YN
Su
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Brain and Mind Sciences, National Taiwan University, Taipei, Taiwan. Electronic address: leeped@hotmail.com.
Wang-Tso
WT
Lee
D000293:Adolescent; D000328:Adult; D001289:Attention Deficit Disorder with Hyperactivity / Q000453:epidemiology*; D000067877:Autism Spectrum Disorder / Q000150:complications*; D001321:Autistic Disorder / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D015897:Comorbidity; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D009483:Neuropsychological Tests; D012189:Retrospective Studies; D012640:Seizures / Q000150:complications; D013624:Taiwan; D013702:Temporal Lobe / Q000473:pathology; D014402:Tuberous Sclerosis / Q000150:complications*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
D018389:Codon, Nonsense; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
attention-deficit–hyperactivity disorder; autism spectrum disorder; seizure; tuberous sclerosis complex