Affiliation: University of Rome Tor Vergata
- Deletion 2q37: an identifiable clinical syndrome with mental retardation and autismCinzia Galasso
Department of Neuroscience, Pediatric Neurology Unit, University of Rome, Rome, Italy
J Child Neurol 23:802-6. 2008..ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature...
- Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?Cinzia Galasso
Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy
J Child Neurol 22:1252-5. 2007..These clinical findings could be explained by the new classification of brain malformations, which takes into account the role of neural crest in Waardenburg syndrome...
- Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type IICinzia Galasso
Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, Rome, Italy
Pediatr Neurol 38:435-8. 2008..We also review the neurologic aspects of this disorder compared with syndromes with overlapping phenotypes, such as microcephalic osteodysplastic primordial dwarfism types I and III and Seckel syndrome...
- De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problemsAdriana Lo-Castro
Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Viale Oxford 81, 00133 Rome, Italy
Eur J Med Genet 54:329-32. 2011....
- Late-onset epileptic spasms in children with Pallister-Killian syndrome: a report of two new cases and review of the electroclinical aspectsCaterina Cerminara
Department of Neuroscience, Child Neurology Unit, Tor Vergata, University of Rome, 00133, Rome, Italy
J Child Neurol 25:238-45. 2010....
- Interstitial deletion of a proximal 3p: a clinically recognisable syndromeCristina Lalli
Neuroscience Department, Pediatric Neurology Unit, Tor Vergata University of Rome, Via Montpellier 1, 00133 Rome, Italy
Brain Dev 29:312-6. 2007..Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome...
- Association of adenosine deaminase polymorphism with mild mental retardationPatrizia Saccucci
Department of Neurosciences, Pediatric Neurology Unit, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
J Child Neurol 21:753-6. 2006..In conclusion, our findings suggest a possible role for a low-activity genotype (ADA-8Asn) (ADA(1) *2) of adenosine deaminase in the pathogenesis of mild mental retardation...
- Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1-q22.2 deletionMaria Cristina Porfirio
Department of Child Psychiatry Unit, Tor Vergata University of Rome, Rome, Italy
Psychiatr Genet 22:202-5. 2012....
- Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardationPatrizia Saccucci
Division of Human Population and Environmental Pathology, Department of Biopathology and Imaging Diagnostics, University of Rome Tor Vergata, Rome, Italy
Nutr Neurosci 11:241-2. 2008..Findings suggest that there is no association between MTHFR C677T and MTHFR A1298C and mental retardation in the studied Italian population and that these polymorphisms are not contributing to the aetiology of mental retardation...
- Neurologic aspects of 49,XXXXY syndromeCinzia Galasso
Division of Paediatric Neurology, Tor Vergata University of Rome, Italy
J Child Neurol 18:501-4. 2003..Finally, we discuss testosterone supplementation in the treatment of this syndrome...
- "Idiopathic" mental retardation and new chromosomal abnormalitiesCinzia Galasso
Department of Neuroscience, Paediatric Neurology Unit, Tor Vergata University of Rome, Italy
Ital J Pediatr 36:17. 2010..We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition...
- Lack of association between IDE genetic variability and Down's syndromeCarla Arpino
Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy
Neurosci Lett 382:93-5. 2005..e., IDE 185 and IDE 199). In conclusion, the findings of our study suggest that the two IDE polymorphisms considered in the analysis do not appear to play a major role in DS-related AD...
- Detecting anxiety symptoms in children and youths with neurofibromatosis type IAugusto Pasini
Department of Neuroscience, Child Neurology and Psychiatry Unit, Tor Vergata University of Rome, Italy
Am J Med Genet B Neuropsychiatr Genet 159:869-73. 2012..This is the first study assessing anxiety symptoms in NF1 children and youths. A precocious psychological survey and intervention in NF1 subjects, may contribute to reduce the risk of psychiatric disorders in adulthood...