Autism spectrum disorder prevalence in Italy: a nationwide study promoted by the Ministry of Health.

BACKGROUND: This nationwide study aimed to estimate Autism Spectrum Disorder (ASD) prevalence in 7-9-year-old Italian children. Promoted by Italy's Ministry of Health and coordinated by the National Observatory for Autism at the National Institute of Health, it covered schools in northern (Lecco and Monza-Brianza), central (Rome and its province), and southern (Palermo and its province) regions from February 24, 2016, to February 23, 2018, using a multi-stage approach defined by the European Union's ASD network. METHODS: Phase one identified ASD-diagnosed children in mainstream schools through local Ministry of Education (MoE) disability registries. Phase two had a subset of schools screen 7-9-year-olds using the Social Communication Questionnaire-Life version (SCQ-L). Those with SCQ-L scores of 15 + underwent clinical consultation for ASD symptoms, cognitive abilities, and life skills. To counter potential false negatives, 20% scoring 11-14 were randomly assessed via Autism Diagnostic Interview-Revised (ADI-R). RESULTS: MoE data revealed 9.8 per 1000 certified ASD children in the north, 12.2 in the central, and 10.3 in the south. In phase two, 35,823 SCQ-L questionnaires were distributed across 198 schools (northern: 11,190 in 49 schools, central: 13,628 in 87 schools, southern: 11,005 in 62 schools). Of SCQ-L respondents, 2.4% (n = 390) scored above the 15 cutoff. Among these, 100 had ASD diagnoses, and 50 had other diagnoses. Among 115 families assessed, 16.5% (n = 19) received ASD diagnoses. CONCLUSIONS: The estimated prevalence of ASD in Italy was 13.4 (11.3-16.0) per 1,000 children aged 7-9 years, with a male-to-female ratio of 4.4:1. It will guide national policies in enhancing services tailored to the specific needs of autistic children.

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.

We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population stratification bias and ethnic homogeneity of the sample. The results of our analysis provided suggestive evidence of the occurrence of transmission disequilibrium between autism and the D2S2188 polymorphism in Sicilian TRIO families, a finding which provides further and independent support to the hypothesis of the existence of a susceptibility gene (or genes) for autism on chromosome 2q.

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the triplicate region does not exceed 300 kb about, that is, the distance from telomere to the first normally inherited marker. In addition, gene dosage analysis performed on the derivative chromosome 21, did not reveal loss of the most telomeric protein-encoding genes on 21p. The potential relationship between a postulated increased expression of genes on 13q34 and the complex phenotype in this trisomic patient is discussed.