Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases are shared across disorders and converge on common functional pathways. Using the Ion Torrent platform, we developed a low-cost next-generation sequencing gene panel that has been transferred into clinical practice, replacing single disease-gene analyses for the early diagnosis of individuals with ID/ASD.

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Deletions of the short arm of chromosome 2 are exceedingly rare, having been reported in few patients. Furthermore most cases with deletion in 2p11.2-p12 have been studied using standard karyotype and so it is not possible to delineate the precise size of deletions.

COMT Val158Met polymorphism and socioeconomic status interact to predict attention deficit/hyperactivity problems in children aged 10-14.

The functional Val158Met COMT polymorphism appears to affect a host of behaviours mediated by the pre-frontal cortex, and has been found associated to the risk for disruptive behaviours including ADHD. Parental socioeconomic status (SES) has also been reported as a predictor for the same childhood disorders. In a general population sample of 575 Italian pre-adolescents aged 10-14, we examined the association of the functional Val158Met COMT polymorphism and SES-both as linear and interactive effects-with oppositional defiant problems, conduct problems, and attention deficit/hyperactivity problems, as defined by the newly established Child Behaviour Check-List/6-18 DSM oriented scales.

The influence of family structure, the TPH2 G-703T and the 5-HTTLPR serotonergic genes upon affective problems in children aged 10-14 years.

Background: Both genetic and psychosocial risk factors influence the risk for depression in development. While the impacts of family structure and of serotonergic polymorphisms upon individual differences for affective problems have been investigated separately, they have never been considered together in a gene-environment interplay perspective.

Methods: We examined the effects of family structure and two serotonergic polymorphisms (the TPH2 G-703T and the 5-HTTLPR) upon depressive symptoms assessed by the new CBCL/6-18 DSM-oriented Affective Problems scale in a general population sample of 607 Italian children aged 10-14 years.

Prevalence and correlates of mental disorders among adolescents in Italy: the PrISMA study.

Background: While in the last 5 years several studies have been conducted in Italy on the prevalence of mental disorders in adults, to date no epidemiological study has been targeted on mental disorders in adolescents.

Method: A two-phase study was conducted on 3,418 participants using the child behavior checklist/6-18 (CBCL) and the development and well-being assessment (DAWBA), a structured interview with verbatim reports reviewed by clinicians.

Results: The prevalence of CBCL caseness and DSM-IV disorders was 9.

Socioeconomic status mediates the genetic contribution of the dopamine receptor D4 and serotonin transporter linked promoter region repeat polymorphisms to externalization in preadolescence.

The impact of socioeconomic status (SES) and genetic polymorphisms on individual differences for externalized behaviors have often been investigated separately in studies of children and adults. In a general population sample of 607 Italian preadolescents, we examined the independent and joint effects of SES and the dopamine receptor D4 (DRD4) and serotonin transporter linked promoter region (5-HTTLPR) polymorphisms upon rule-breaking and aggressive behaviors measured with the Child Behavior CheckList/6-18. We found evidence, which was based on both one locus and two-loci genotype analyses, that low SES and DRD4 long and 5-HTTLPR long alleles, both alone and in interaction, are associated with higher aggressive behavior scores.

The Italian preadolescent mental health project (PrISMA): rationale and methods.

The Italian preadolescent mental health project (PrISMA--Progetto Italiano Salute Mentale Adolescenti) is the first Italian study designed to estimate the prevalence of mental disorders in preadolescents (10-14 years old) living in urban areas, and to analyse the demographic and biological correlates of emotional and behavioural problems. This paper describes the rationale, methods and the analysis plan of the project. The design of the study used a two-stage sampling procedure, one screening stage of emotional and behavioural problems in a large sample of subjects attending public and private schools and a second stage of diagnostic assessment in a sample including all high scorers and a proportion of low scorers.