Gaia Giribaldi

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BACKGROUND Preclinical data suggest that general anaesthetics affect brain development. There is mixed evidence from cohort studies that young children exposed to anaesthesia can have an increased risk of poor neurodevelopmental outcome. We aimed to establish whether general anaesthesia in infancy has any effect on neurodevelopmental outcome. Here we report(More)
Mutations in small heat-shock protein 27 and small heat-shock protein 22 genes were found in association with Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. We searched for mutations in small heat-shock protein 27 gene in an Italian family with peripheral neuropathy and intrafamilial phenotypic variability. A novel heterozygous(More)
Pyruvate dehydrogenase complex (PDHC) deficiency causes encephalomyopathies, of which there are four major categories: (1) neonatal encephalopathy with lactic acidosis; (2) an early infantile form, which (3) at times resembles Leigh syndrome; and (4) a later-onset form. Long-term clinical and radiological follow-up is still incompletely elucidated. We(More)
Thalidomide was recently reintroduced to treat several immune-mediated pathologies. Peripheral neuropathy is a significant side effect limiting its clinical use. Our aims include: (1) describing and identifying the incidence of clinical or electrophysiologic peripheral neuropathy in children, (2) determining whether peripheral neuropathy correlates with(More)
It is now well established that many general anesthetics have a variety of effects on the developing brain in animal models. In contrast, human cohort studies show mixed evidence for any association between neurobehavioural outcome and anesthesia exposure in early childhood. In spite of large volumes of research, it remains very unclear if the animal(More)
Anti-N-methyl-D-aspartate-receptor encephalitis is a recently identified autoimmune disorder. We report on a 4-year-old girl presenting with seizures after nonspecific viral-like symptoms, progressing to severe aphasia, upper limb dyskinesias, fluctuation in consciousness, and inability to walk. Anti-N-methyl-D-aspartate-receptor encephalitis should be(More)
Purpose of the present study was to investigate the early cortical somatosensory evoked potentials after median nerve stimulation and to determine normative data as a function of age. Two hundred forty subjects aged 1 day to 18 years were studied to determine standards of normality during maturation to establish the growth curve. The N9, N13, and N20(More)
Hyperekplexia (OMIM 149400) is an uncommon neurologic disorder characterized by exaggerated response to sensitive stimuli. It may be sporadic or familial. The disease is usually caused by mutations in the inhibitory glycine receptor alpha1-subunit. The authors report a male patient who is affected by the major form of familial hyperekplexia. He is currently(More)
Andrew J. Davidson, MD1,2,3, Nicola Disma, MD4, Jurgen C. de Graaff, PhD5, Davinia E. Withington, BM6,7, Liam Dorris, DClinPsy8,9, Graham Bell, MBChB10, Robyn Stargatt, PhD11,12, David C. Bellinger, PhD13,14,15, Tibor Schuster, PhD16, Sarah J. Arnup, MBiostat16, Pollyanna Hardy, MSc17, Rodney W. Hunt, PhD3,18,19, Michael J. Takagi, PhD1,12, Gaia Giribaldi,(More)
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