Neuropsychological aspects of tuberous sclerosis complex

الملخص EN

Background : Tuberous sclerosis is an autosomal, dominantly inherited multisystem disorder in which two-thirds of cases are due to spontaneous mutation.

Individuals with TSC are commonly associated with neuropsychiartic complications like epilepsy, mental retardation, autism and other psychological disorders.

Aims : To assess the neuropsychological aspects of Tuberous Sclerosis Complex and to correlate the psychological findings with neurological manifestations.

Methods : This descriptive study was conducted on patients of only Definite TSC of both sexes presented to the Pediatric Neurology Outpatient Clinic in Pediatric Department, Children Hospital (Abou El-Rish Hospital), Cairo University, Egypt and in Neurology Department, Bambino Gesu Hospital, Rome, Italy and Pediatric Department, Torvegata University, Rome, Italy .A group of twenty individuals in the pediatric age group with definitive Tuberous Sclerosis Complex were included in the study, 12 males (60 %) and 8 females (40 %).

Results : Patients complaining of seizures were 18\20 representing 90 % of cases.

Infantile spasms were the most common type of seizures which can be detected in males 8\12 and in females 5 \ 8 with over all percentage 65 % (13 \ 20).

The likelihood of the first seizure occurring before 1 year of age increased relative to the total number of tubers (P value < 0.

001).

Infantile spasms were detected in all cases with moderate to severe (significant) mental retardation representing 100 %.

As for mild mental retardation, infantile spasms were present in 50 %.

The mean number of tubers was significantly "greater among individuals with mental retardation than among those without (P value = 0.

005).

Conclusion : All autistic patients had epilepsy (100 %) and all of them had infantile spasms (100 %) with an EEG showing hypsarrhythmia in 100 % of the autistic cases.

It was evident that children without autistic spectrum disorders had tubers in the principal gyri of the temporal lobe as the autistic group, thus neither the extent of involvement of tubers nor their position could explain why some patients with temporal tubers develop autism and some did not.