The assessment of the intelligence quotient (IQ) in children with autism spectrum disorder (ASD) is important to plan a detailed therapeutic-educative programme. The aim of the study was to evaluate the usefulness of the Psychoeducational Profile-third edition (PEP-3) to estimate the general cognitive development of children with ASD.

OBJECTIVE: The aim of this study is to examine cognitive skills, adaptive behavior, social and emotional skills in deaf children with cochlear implant (CI) compared to normal hearing children. METHODS: The study included twenty children affected by profound hearing loss implanted with a CI compared to 20 healthy children matched to chronological age and gender. RESULTS: Results of this study indicated that 55% of children with CI showed a score in the normal range of nonverbal intelligence (IQ > 84), 40% in the borderline range (71 < IQ < 84) and 5% were in mild range(50 < IQ < 70). No significant differences were found after comparison with normal hearing children.Children with CI reported more abnormalities in emotional symptoms (p = .018) and peer problems(p = .037) than children with normal hearing. Age of CI was negatively correlated with IQ (p = .002),positively correlated with emotional symptoms (p = .04) and with peer problems (p = .02). CONCLUSIONS: CI has a positive effect on the lives of deaf children, especially if it is implanted in much earlier ages.

Questo articolo descrive i principali risultati del Modello Pragmatico Elementare (EPM). Il modello è stato sottoposto a sperimentazione utilizzando la procedura del test Sintesi e Scissione (SISCI test) descritto in questo lavoro. Abbiamo rilevato che nelle persone normali, prevale la tendenza a “mantenere il loro mondo” (F3) rispetto “al vuoto mentale” (F0) e al “caos” nel senso di incapacità a selezionare (F15). Al contrario, gli individui con disturbi mentali hanno mostrato una diminuzione nel “mantenere il loro mondo” (F3) e un più elevato livello di “vuoto mentale” (F0) e “caos” nel senso di incapacità a selezionare (F15). I risultati sono utili sia per lo sviluppo della creatività sia nel problem solving nelle aziende sia per migliorare i trattamenti dei disturbi mentali.

BACKGROUND: Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset schizophrenia (EOS) and very early-onset schizophrenia (VEOS). METHODS: We present a case-control study of a sample of 21 patients with EOS/VEOS and a control group of 21 patients with migraine, recruited from the Child Neuropsychiatry Unit, Department of Neurologic and Psychiatric Science, University of Bari, Italy. The aim was to assess the statistical association between VEOS/EOS and family history for psychiatric disorders, obstetric complications and childhood developmental abnormalities using 2 × 2 tables and a Chi Squared or Fisher test. RESULTS: The results show a statistical association between EOS/VEOS and schizophrenia and related disorders (P = 0.02) and personality disorders (P = 0.003) in relatives, and between EOS/VEOS and developmental abnormalities of early relational skills (P = 0.008) and learning (P = 0.04); there is not a statistically relevant difference between cases and controls (P > 0.05) for any obstetric complications (pre, peri and postpartum). CONCLUSIONS: This study confirms the significant role of familial liability but not of obstetric complications in the pathogenesis of VEOS/EOS; the association between childhood developmental abnormalities and EOS/VEOS supports the neurodevelopmental model of disease.

This study aimed at investigating the fecal microbiota and metabolome of children with Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) and autism (AD) in comparison to healthy children (HC). Bacterial tag-encoded FLX-titanium amplicon pyrosequencing (bTEFAP) of the 16S rDNA and 16S rRNA analyses were carried out to determine total bacteria (16S rDNA) and metabolically active bacteria (16S rRNA), respectively. The main bacterial phyla (Firmicutes, Bacteroidetes, Fusobacteria and Verrucomicrobia) significantly (P<0.05) changed among the three groups of children. As estimated by rarefaction, Chao and Shannon diversity index, the highest microbial diversity was found in AD children. Based on 16S-rRNA and culture-dependent data, Faecalibacterium and Ruminococcus were present at the highest level in fecal samples of PDD-NOS and HC children. Caloramator, Sarcina and Clostridium genera were the highest in AD children. Compared to HC, the composition of Lachnospiraceae family also differed in PDD-NOS and, especially, AD children. Except for Eubacterium siraeum, the lowest level of Eubacteriaceae was found on fecal samples of AD children. The level of Bacteroidetes genera and some Alistipes and Akkermansia species were almost the highest in PDD-NOS or AD children as well as almost all the identified Sutterellaceae and Enterobacteriaceae were the highest in AD. Compared to HC children, Bifidobacterium species decreased in AD. As shown by Canonical Discriminant Analysis of Principal Coordinates, the levels of free amino acids and volatile organic compounds of fecal samples were markedly affected in PDD-NOS and, especially, AD children. If the gut microbiota differences among AD and PDD-NOS and HC children are one of the concomitant causes or the consequence of autism, they may have implications regarding specific diagnostic test, and/or for treatment and prevention.

Recently, neuroimaging studies were performed using 1H-magnetic resonance spectroscopy (1H-MRS), revealing a quantitative alteration of neurochemicals (such as neurotransmitters and metabolites) in several brain regions of patients with autism spectrum disorder (ASD). The involvement of the frontal lobe in the neurobiology of ASD has long been documented in the literature. Therefore, the aim of this study was to analyze the alterations of N-acetylaspartate/creatine (NAA/Cr) and choline/Cr (Cho/Cr) ratios in the frontal lobe subcortical white matter (WM) in ASD patients, in order to reveal any alteration of metabolites that might be the expression of specific clinical features of the disorder.

Lead poisoning is a medical condition caused by increased levels of the heavy metal lead in the body, generally resulting from environmental exposure. Lead poisoning can cause a variety of symptoms which vary depending on the individual and the duration of lead exposure; lead poisoning is more noxious to children than adults, because it can damage the brain and nerve development of children.We report a case of lead poisoning in a 5-year-old girl caused by accidental ingestion of a metal ring. Simultaneously, the child showed anemia, encephalopathy, and peripheral neuropathy with albuminocytological dissociation mimicking Guillain-Barré syndrome.This case suggests that anemia with signs of peripheral and central nervous system damage could be considered as a possible manifestation of lead poisoning in children.

In recent years, studies have shown that parents of children with Neurodevelopmental Disorders (NDDs) experience more parenting stress than parents of typically developing children, but the relation between the type of disorders and parenting stress is far from clear. The purpose of this study was to compare the parenting stress experienced by parents of 239 children with Specific Learning Disorders (SpLD), Language Disorders (LD), Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD), and typical development (TD). Parents of children with NDDs experience more parenting stress than those of children who have TD. Although, parents of children with ASD or ADHD report the most high scores of parenting stress, also the parents of children with SpLD or LD report higher parental stress compared with parent of children without NDDs. Another interesting finding was that IQ level or emotional and behavioral problems are associated with the higher levels of parenting stress. This study suggest that parent, both mothers and fathers, of children with different type of NDDs should be provided with interventions and resources to empower them with the knowledge and skills to reduce their stress and to enhance their quality of life.

SUMMARY. The aim of the study is to evaluate the effectiveness of the Social Communication Questionnaire (SCQ) to early recognize autistic spectrum disorder (ASD) patients with a comorbidity of attention deficit hyperactivity disorder (ADHD). The SCQ is a 40 items questionnaire developed as a screening tool for ASD in children, with yes/no questions (presence of symptoms with a score of 1/ absence of symptoms with a score of 0) and a risk cutoff. We have analyzed 75 questionnaires completed by both parents of the 75 children referred to the Child Neuropsychiatry Unit of the “Aldo Moro” University of Bari for a psychopathological assessment. These patients received a diagnosis of ASD with a comorbidity of ADHD (24) or without a comorbidity with ADHD (51). Results indicate a higher score of SCQ in patients with overlap diagnosis rather than patients with pure ASD. In particular, the items with a higher frequency are deficit in sociability, empathy and impulse control. Furthermore, patients with intellectual disabilities have a higher score. Findings highlight the use of the SCQ in the assessment of ASD population to early detect potential comorbidity with ADHD. KEY WORDS: overlap of ASD-ADHD, SCQ, intellectual disabilities. Riv Psichiatr 2015; 50(1): 34-37 34

Abstract OBJECTIVE: The objective of this study was to replicate an association study on a newly collected Italian autism spectrum disorder (ASD) cohort by studying the genetic markers associated with ASDs from recent genome-wide and candidate gene association studies. METHODS: We have genotyped 746 individuals from 227 families of the Italian Autism Network using allelic discrimination TaqMan assays for seven common single-nucleotide polymorphisms: rs2292813 (SLC25A12 gene), rs35678 (ATP2B2 gene), rs4307059 (between CDH9 and CDH10 genes), rs10513025 (between SEMA5A and TAS2R1 genes), rs6872664 (PITX1 gene), rs1861972 (EN2 gene), and rs4141463 (MACROD2 gene). A family-based association study was conducted. RESULTS: A significant association was found for two of seven markers: rs4307059 T allele (odds ratio: 1.758, SE=0.236; P-value=0.017) and rs35678 TC genotype (odds ratio: 0.528, SE=0.199; P-value=0.0013). CONCLUSION: A preferential allele transmission of two markers located at loci previously associated with social and verbal communication skill has been confirmed in patients of a new ASD family sample.

This article describes the Elementary Pragmatic Model (EPM), that focuses on the interactions and changes that can occur between two parties. The model has undergone experimentation using the "Synthesis and Scission Sentences" procedure (SISCI Sentences) described in this work. To develop a new psychotherapy method firstly it was assessed whether the SISCI Sentences revealed differences between normal and disturbed subjects, and then whether some sentences derived from the SISCI procedure - using a specific automated program - really do have an impact even on non clinical subjects. Finally, we report some examples of clinical use of the sentences obtained with the described procedure.

Lo scopo del nostro studio è valutare l’efficacia del Strength and Difficulties Questionnarie (SDQ) come strumento di screening per i problemi emotivi e comportamentali in tre diverse popolazioni a rischio. Metodi. L’SDQ è un breve questionario di screening che indaga la presenza di problematiche emotive e comportamentali in bambini e adolescenti. Abbiamo esaminato 497 questionari compilati dai genitori di bambini afferenti alle cliniche di Neuropsichiatria Infantile, Endocrinologia Pediatrica e Oncologia Pediatrica. Risultati. I risultati indicano una maggiore presenza di disturbi psicopatologici nei pazienti della Neuropsichiatria rispetto a quelli dell’Oncologia e dell’Endocrinologia. Inoltre, i pazienti dell’Oncologia hanno più problematiche emotive e comportamentali rispetto a quelli dell’Endocrinologia. Discussione. I risultati supportano l’uso del questionario SDQ per la valutazione di problematiche emotive e comportamentali in queste popolazioni a rischio. Quindi l’SDQ potrebbe essere utilizzato dai clinici per individuare precocemente disturbi psicopatologici in bambini con diversi tipi di patologie organiche croniche.

Abstract Abstract Objective: A supervised multivariate model to classify the metabolome alterations between autistic spectrum disorders (ASD) patients and controls, siblings of autistic patients, has been realized and used to realize a network model of the ASD patients' metabolome. METHODS: In our experiment we propose a quantification of urinary metabolites with the Mass Spectroscopy technique couple to Gas Chromatography. A multivariate model has been used to extrapolate the variables of importance for a network model of interaction between metabolites. In this way we are able to propose a network-based approach to ASD description. RESULTS: Children with autistic disease composing our studied population showed elevated concentration of several organic acids and sugars. Interactions among diet, intestinal flora and genes may explain such findings. Among them, the 3-(3-hydroxyphenyl)-3-hydroxypropanoic acid has been previously described as altered in autistic subjects. Other metabolites increased are 3,4-dihydroxybutyric acid, glycolic acid and glycine, cis-aconitic acid; phenylalanine, tyrosine, p-hydroxyphenylacetic acid, and homovanillic acid are all involved in the tyrosine pathway leading to neurotransmitter cathecolamine. CONCLUSION: GC-MS-based metabolomic analysis of the urinary metabolome suggests to have the required sensitivity and specificity to gain insight into ASD phenotypes and aid a personalized network-based medicine approach.