The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations
| Autor: | Muglia, P., Filosi, M., Ros, Da, Kam-Thong, T., Nardocci, F., Trabetti, E., Ratti, E., Rizzini, P., Zuddas, A., Bernardina, B. D., Domenici, Enrico, Alibrio, G., Anchisi, L., Andruccioli, M., Benvenuto, A., Battistella, P. A., Boscaini, F., Bravaccio, C., Ceppi, E., Cosentino, D., Curatolo, P., De Giacomo, A., Di Vita, G., Elia, M., Gitti, F., Grittani, S., Lamanna, A. L., Mani, E., Manzi, B., Margari, L., Masi, G., Molteni, M., Pascotto, A., Parmeggiani, A., Pignatti, P. F., Piroddi, T., Prandini, P., Russo, S., Scifo, R., Tancredi, R., Tiberti, A., Zoccante, L. |
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| Přispěvatelé: | Pierandrea Muglia, Michele Filosi, Lucio Da Ros, Tony Kam-Thong, Franco Nardocci, Elisabetta Trabetti, Emiliangelo Ratti, Paolo Rizzini, Alessandro Zuddas, Bernardo Dalla Bernardina, Enrico Domenici,..Antonia Parmeggiani, Muglia, Pierandrea, Filosi, Michele, Da Ros, Lucio, Kam-Thong, Tony, Nardocci, Franco, Trabetti, Elisabetta, Ratti, Emiliangelo, Rizzini, Paolo, Zuddas, Alessandro, Bernardina, Bernardo Dalla, Domenici, Enrico, Alibrio, Giovanni, Anchisi, Laura, Andruccioli, Milena, Benvenuto, Arianna, Battistella, Pier Antonio, Boscaini, Flavio, Bravaccio, Carmela, Ceppi, Elisa, Cosentino, Diego, Curatolo, Paolo, De Giacomo, Andrea, Di Vita, Giuseppa, Elia, Massimo, Gitti, Filippo, Grittani, Serenella, Lamanna, Anna Linda, Mani, Elisa, Manzi, Barbara, Margari, Lucia, Masi, Gabriele, Molteni, Massimo, Pascotto, Antonio, Parmeggiani, Antonia, Pignatti, Pier Franco, Piroddi, Tiziana, Prandini, Paola, Russo, Sebastiano, Scifo, Renato, Tancredi, Raffaella, Tiberti, Alessandra, Zoccante, Leonardo |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Adolescent lcsh:RC435-571 Autism Spectrum Disorder Medical Records Autism Spectrum disorders 03 medical and health sciences Study Protocol 0302 clinical medicine Genetic Language assessment lcsh:Psychiatry medicine Pervasive developmental disorder Child and adolescent psychiatry Genetics Humans Biorepository Asperger Syndrome Child Biomarkers Wechsler Intelligence Scale for Children Biological Specimen Banks business.industry Leiter International Performance Scale Medical record Autism Spectrum disorders Biomarkers Biorepository Genetics Biomarker medicine.disease Settore MED/39 - Neuropsichiatria Infantile Psychiatry and Mental health 030104 developmental biology Databases as Topic Italy Psychiatry and Mental Health Child Development Disorders Pervasive Child Preschool Autism Health Resources Female business 030217 neurology & neurosurgery Clinical psychology |
| Zdroj: | BMC Psychiatry BMC Psychiatry, Vol 18, Iss 1, Pp 1-9 (2018) |
| ISSN: | 1471-244X |
| Popis: | BackgroundA substantial genetic component accounts for Autism Spectrum Disorders (ASD) aetiology, with some rare and common genetic risk factors recently identified. Large collections of DNAs from thoroughly characterized ASD families are an essential step to confirm genetic risk factors, identify new variants and investigate genotype-phenotype correlations. The Italian Autism Network aimed at constituting a clinical database and a biorepository of samples derived from ASD subjects and first-degree relatives extensively and consistently characterized by child psychiatry centers in Italy.MethodsThe study was approved by the ethical committee of the University of Verona, the coordinating site, and by the local ethical committees of each recruiting site. Certified staff was specifically trained at each site for the overall study conduct, for clinical protocol administration and handling of biological material. A centralized database was developed to collect clinical assessment and medical records from each recruiting site. Children were eligible for recruitment based on the following inclusion criteria: age 4–18 years, at least one parent or legal guardian giving voluntary written consent, meeting DSM-IV criteria for Autistic Disorder or Asperger’s Disorder or Pervasive Developmental Disorder NOS. Affected individuals were assessed by full psychiatric, neurological and physical examination, evaluation with ADI-R and ADOS scales, cognitive assessment with Wechsler Intelligence Scale for Children or Preschool and Primary, Leiter International Performance Scale or Griffiths Mental Developmental Scale. Additional evaluations included language assessment, the Krug Asperger’s Disorder Index, and instrumental examination such as EEG and structural MRI. DNA, RNA and plasma were collected from eligible individuals and relatives. A central laboratory was established to host the biorepository, perform DNA and RNA extraction and lymphocytes immortalisation. DiscussionThe study has led to an extensive collection of biological samples associated with standardised clinical assessments from a network of expert clinicians and psychologists. Eighteen sites have received ADI/ADOS training, thirteen of which have been actively recruiting. The clinical database currently includes information on 812 individuals from 249 families, and the biorepository has samples for 98% of the subjects. This effort has generated a highly valuable resource for conducting clinical and genetic research of ASD, amenable to further expansion. |
| Databáze: | OpenAIRE |
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