An important risk factor in idiopathic generalized epilepsies

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Helbig et al. (2009)
Nature Genetics 41(2):160–162     

Pachygyriclike changes: topographic appearance at MR imaging and CT and correlation with neurologic status

Studies of 23 pediatric patients with pachygyriclike changes (PLCs) examined with computed tomography (CT) and magnetic resonance (MR) imaging were reviewed to determine topographic patterns and correlate them with various clinical syndromes and degrees of neurologic impairment. Three types of topographic distributions were identified: unilateral, diffuse, and bilateral nondiffuse (of which eight of 10 showed frontotemporal predominance). PLCs were an isolated finding in seven patients, were associated with various congenital syndromes in nine patients, and were associated with congenital infection in seven patients, six of whom showed marked white matter abnormalities. Although most patients had severe developmental delay, three with nondiffuse PLCs had less severe impairment, permitting less required care.     

Assessment of an abbreviated odorant identification task for children: a rapid screening device for schools and clinics

To validate the level of olfactory performance of children, we tested 825 volunteers, aged 4–17 years, with an abbreviated form of our pediatric odorant identification task. The test consisted of sniffing and identifying five odorants (baby powder, bubble gum, candy cane, licorice and peach). Mean olfactory scores increased as a function of age, reaching a plateau of about 94–95% correct at 8 years of age. In general, girls out–performed boys. Physicians require a test instrument such as the one we have devised to allow them to diagnose olfactory dysfunction in children. The present task is particularly applicable in screening large numbers of children in clinics or schools because it can be administered easily and rapidly. Adult subjects with olfactory dysfunction also performed poorly on this odorant identification task designed for children. Therefore, we expect that our odorant identification task will also detect children with severe olfactory dysfunction.