Medical/neurological evaluation is mandatory. • Head circumference (e.g., microcephaly in Rett’s), dysmorphism in syndromic ASD (e.g., phakomatosis, mitochondrial encephalopathy) • Electroencephalography ‐for epileptiform discharges or seizures (typically bimodal, 8‐21.5% have epilepsy and more in females)[3] also indicated in regression and Landau–Kleffner syndrome • ENT evaluation should be d...

Von Hippel Lindau disease is a hereditary phakomatosis characterized by congenital angiomatosis of the retina and cerebellum. This autosomal dominant syndrome exhibits variable penetrance and expressivity. Because of the marked clinical variability and sporadic age of onset, members of affected families must be counseled and screening protocols established. It has been recommended that initial ...

R ecent developments in stem cell research and genomics have made it possible to grow mini-organs, socalled organoids, in culture. Organoids are self-assembling three-dimensional structures that closely resemble the architecture and function of real organs and are seen as one of the most significant developments in stem cell research with a wide range of applications in research and in the clin...

This note comments on Feuerstein’s (Feuerstein, Switgard, BCollusion in industrial economics: A survey,^ forthcoming in Journal of Industry, Competition and Trade, 2005) survey of collusion theory. I start by presenting evidence from a recent real-world collusion case: the lysine industry. Based on this, I point out a few areas where collusion theory can improve: (a) the problem of equilibrium ...

We report unilateral megalencephaly in a 14-year-old girl with linear sebaceous nevus syndrome. A review of the radiologic findings in this case and in previously reported cases suggests that the seizures and developmental delay in this neurocutaneous syndrome are related to the migration anomaly of unilateral megalencephaly.

The goal of this clinical case study is to investigate the possibility of training communication abilities in people with Rett Syndrome (RS). Usually, girls with RS never exceed the sensorimotor stage of development, but the inter-individual variability typical of RS may lead us to doubt the irrevocability of that developmental limit, especially for those girls who are engaged in cognitive reha...