Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.

Xp11.22 microduplications have been reported in different patients with X-linked intellectual disability. Comparing the duplicated segments, a minimum region of overlap has been identified. Within this region, only one gene, the HUWE1 gene, coding the E3 ubiquitin protein ligase, turned out to be duplicated in all previously described patients. We provide a review of the literature on this topic, making a comparison not only of genetic aspects, but also of clinical, neurophysiological, and neuroradiological findings. Furthermore, we describe the phenotypic and molecular characterization of a case of intellectual disability in a child carrying one of the smallest Xp11.22 microduplications reported, involving the whole sequence of HUWE1 gene. Unlike previously described cases, our patient's neuroimaging showed abnormal findings; he also experienced one seizure and showed interictal electroencephalogram (EEG) epileptiform abnormalities. Given the fact that HUWE1 duplications and mutations have previously been described in several patients with X-linked cognitive impairment, our findings support the hypothesis that HUWE1 gene might be implicate in the pathogenesis of intellectual disability. Nevertheless, further investigations and a more detailed examination of patients' clinical history are needed to clear up other eventual genotype-phenotype correlations, such as the presence of epilepsy/epileptiform EEG abnormalities.

Failure in pantomime action execution correlates with the severity of social behavior deficits in children with autism: a praxis study.

Here we describe the performance of children with autism, their siblings, and typically developing children using the Florida Apraxia Battery. Children with autism showed the lowest performance in all sections of the test. They were mostly impaired in pantomime actions execution on imitation and on verbal command, and in imitation of meaningless gestures. Interestingly, a correlation was found between performance in pantomime actions and the severity of social behavior deficits. We conclude that the presence of a rigid internal model prevents the execution of an exact copy of the observed pantomime actions and that the deficit in imitation of meaningless gestures is most likely due to a deficit in the mechanisms responsible for visuomotor transformations.

Paroxysmal nonepileptic motor phenomena in newborn.

INTRODUCTION: Understanding the pathophysiological meaning of paroxysmal nonepileptic motor phenomena in newborns represents a challenge for the clinicians of the Neonatal Intensive Care Unit. METHODS: This paper provides an extensive review of the most frequent paroxysmal nonepileptic motor phenomena in newborns, in order to improve the knowledge about this sub-topic of the neonatal pathology and to guide the diagnostic-therapeutic approach. RESULTS: The correct identification of an epileptic form, among different motor phenomena, which may clinically mimic seizures, is essential for a correct management, avoiding overtreatment. However, it is likewise important to know and to be able to identify other rare neurological conditions, such as hyperekplexia, spinal muscular atrophy, acute bilirubin encephalopathy, that could make a first appearance with paroxysmal motor manifestations, needing specific diagnostic work-up and treatment. CONCLUSIONS: These clinical events should not be underestimated because, even if many times they are physiological and age-related, sometimes they could be the visible signs of an underlying epileptic or nonepileptic neurological disease.