Ambulatorio di Genetica Clinica Pediatrica

Monza, Italy

Ambulatorio di Genetica Clinica Pediatrica

Monza, Italy
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Alfieri P.,Childrens Hospital | Cesarini L.,Catholic University | De Rose P.,Childrens Hospital | Ricci D.,Catholic University | And 11 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Global spatial and motion processing abilities were assessed in 18 patients with Noonan syndrome (NS) and in 43 matched controls using form and motion coherence testing, respectively. We observed a discrepancy between the two groups since the study group had significantly lower performances than the control group for form coherence while there was no impairment on motion coherence. All the patients were also assessed on the Movement Assessment Battery for Children (M-ABC) to evaluate visuomotor skills. Thirteen of the 18 (72%) also had global poor performances on the M-ABC. The results show that children with NS have a specific impairment in the global processing of visuospatial information and are likely to have a specific ventral stream deficit as also suggested by the frequent visuomotor perceptual difficulties. Testing form and motion coherence thresholds may be a useful diagnostic tool for this group of patients, despite their normal cognitive abilities, since aspects of global form processing and visuomotor perceptual difficulties can be identified and potentially targeted for a specific rehabilitation program. © 2011 Wiley-Liss, Inc.

Alfieri P.,Bambino Gesu Childrens Hospital | Piccini G.,Bambino Gesu Childrens Hospital | Piccini G.,Maria Santissima Assunta Free University | Caciolo C.,Bambino Gesu Childrens Hospital | And 13 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. Parents of 70 individuals with a RASopathy were asked to fill out the following questionnaires: Child Behavior Checklist (CBCL), Social Communication Questionnaire version lifetime (SCQ-L), and Modified Checklist for Autism in toddlers (M-CHAT). Data analysis indicated high rates of internalizing (37%) and externalizing problems (31%) on CBCL. Scores over the cut-off were documented in 64% of patients with cardiofaciocutaneous syndrome, 44% with Costello syndrome, and 12% with Noonan syndrome on SCQ-L/M-CHAT. Our findings indicate that mutations promoting dysregulation of the RAS-MAPK cascade mark an increased psychopathological risk and highlight that autistic-like behavior could be underdiagnosed in patients with RASopathies. © 2014 Wiley Periodicals, Inc.

Ballarati L.,CNR Institute of Molecular Genetics | Cereda A.,Ambulatorio di Genetica Clinica Pediatrica | Caselli R.,CNR Institute of Molecular Genetics | Selicorni A.,Ambulatorio di Genetica Clinica Pediatrica | And 7 more authors.
European Journal of Medical Genetics | Year: 2011

We describe a 6-year-old boy carrying a de novo 5. Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems. In order to estimate the role of suggested candidate genes, we compared the deletion of our patient with other previously reported and molecularly characterised deletions that have been re-evaluated on the basis of the current genetic map data. The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself. © 2010 Elsevier Masson SAS.

Maitz S.,Ambulatorio di Genetica Clinica Pediatrica | Selicorni A.,Ambulatorio di Genetica Clinica Pediatrica
Area Pediatrica | Year: 2011

Williams syndrome (WS) is a rare genetic disease characterized by facial dysmorphisms, growth retardation, congenital heart disease (mainly supravalvar aortic stenosis), mental retardation (usually mildmoderate) and a specific cognitive and behavioural profile. The disease is caused by a microdeletion at the region 7q11.23. The incidence is about 1:20,000 at birth. This disease, known since 1961, has been initially described as "infantile idiopathic hypercalcemia" today neonatal hyerpcalcemia is not considered as a characteristic sign anymore. ©2011 Elsevier srl. Tutti i diritti riservati.

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