Clinical Neuroscience

Surveillance and management of patients with tuberous sclerosis complex

FOGARASI András, GYORSOK Zsuzsanna, BODÓ Tímea

MARCH 30, 2017

Clinical Neuroscience - 2017;70(03-04)

DOI: https://doi.org/10.18071/isz.70.0097

Tuberous sclerosis complex (TSC) is an autosomal dominant disease due to the uncontrolled differentiation, proliferation, and migration of cells in several organs. Clinical expression is highly variable, from mild skin findings and asymptomatic brain lesions to seizures, mental retardation, autism, and potentially fatal kidney, cardiac, or pulmonary disease. Aim of this paper is to summarize the diagnostic criteria, surveillance and therapeutic issues of this multisystemic disorder emphasizing the most important neurological consequences. Presenting the state-of-the-art management recommendations and comparing them with the local protocols, we hope that our review might help in the proper assessment of one of the most important single gene disorder.

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Children with autism spectrum disorder (ASD) show altered learning and memory. A number of recent studies have debated whether procedural learning in ASD is intact or not. Our aim was to further assess the question of whether the implicit, non-conscious form of procedural learning in ASD children is intact or not, furthermore, how shifts towards a more explicit, attention-demanding task setting can alter this performance. We administered a modified version of the Alternating Serial Reaction Time (ASRT) Task to children with ASD and IQ- and age-matched typically developing (TD) children. The task consisted of alternating blocks of cued (explicit) and uncued (implicit probe) blocks, and was repeated after a 16-hour delay. We found that ASD and TD children showed similar sequence-specific learning in cued explicit blocks, however, on the uncued probe blocks ASD children performed better compared to TD children. After the 16-hour delay both groups showed retention of the previously acquired knowledge. Finally, when we investigated the performance in different parts of the blocks, we found that ASD children did not show an effect of fatigue by the second part of the blocks. Our results suggest that children with ASD have increased implicit procedural learning skills compared to TD children. Differences in cued (explicit) and uncued (implicit) settings indicate that children with ASD are not affected by the lack of explicit instructions in probe blocks, suggesting a resistance for changes in task settings. These findings can help in a more thorough planning of cognitive therapeutic setups for ASD children.

Clinical Neuroscience

[A családorvosok alvási apnoéval kapcsolatos ismeretei és attitűdjei. Megvalósul-e az OSAS szűrése a járművezetők egészségi alkalmasságának vizsgálata során?]

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