Del trastorno del diálogo tónico a la inestabilidad psicomotriz: Taxonomía diagnóstica

The goal of this work is to deepen the relationship between hyperactivity and tonic dialogue, by considering the body as a common element of communication even if their psychomotor manifestations and meanings are different during development. While tonic dialogue is vital for the child in the constitution of the attachment bond, psychomotor instability is the expression of a difficulty in relating to reality. In the clinic it is difficult to place instability in international diagnostic classifications, due to the multi-problematic nature and variability of expressions of it. Research confirms the consequences of a disorder of tonic dialogue, constituting a model on which future behaviors will be organized. The authors hypothesize that each stage of the body communication, if lived with difficulty, constitutes a matrix on which diversified expressions of instability will be structured. The intent, therefore, is to collect theoretical-clinical material in order to subsequently make a diagnostic classification of psychomotor instability.El objetivo de este trabajo es profundizar en la relación entre hiperactividad y diálogo tónico al considerar el cuerpo como elemento común de comunicación, aunque sus manifestaciones psicomotoras y significados sean diferentes durante el desarrollo. Mientras que el diálogo tónico es vital para que el niño establezca el vínculo de apego, la inestabilidad psicomotora es la expresión de una dificultad para relacionarse con la realidad. La complejidad y variabilidad de los cuadros clínicos dificulta su ubicación en las clasificaciones diagnósticas internacionales. La investigación luego confirma las consecuencias del trastorno del diálogo tónico, constituyendo un modelo sobre el que se organizarán los comportamientos futuros. Los autores plantean la hipótesis de que cada etapa del diálogo tónico, si se vive con dificultad, constituye una matriz sobre la que se estructurarán diversas expresiones de inestabilidad. La intención es recopilar material teórico-clínico para posteriormente realizar una clasificación diagnóstica de la inestabilidad psicomotora

From disorder of tonic dialogue to psychomotor instability: Diagnostic taxonomy

El objetivo de este trabajo es profundizar en la relación entre hiperactividad y diálogo tónico al considerar el cuerpo como elemento común de comunicación, aunque sus manifestaciones psicomotoras y significados sean diferentesdurante el desarrollo.Mientras que el diálogo tónico es vital para que el niño establezca el vínculo de apego, la inestabilidad psicomotora es la expresión de una dificultad para relacionarse con la realidad. La complejidad y variabilidad de los cuadros clínicos dificulta su ubicación en las clasificaciones diagnósticas internacionales. La investigación luego confirma las consecuencias del trastorno del diálogo tónico, constituyendo un modelo sobre el que se organizarán los comportamientos futuros.Los autores plantean la hipótesis de que cada etapa del diálogo tónico, si se vive con dificultad, constituye una matriz sobre la que se estructurarán diversas expresiones de inestabilidad. La intención es recopilar material teórico-clínico para posteriormente realizar una clasificación diagnóstica de la inestabilidad psicomotora.The goal of this work is to deepen the relationship between hyperactivity and tonic dialogue,by considering the body as a common element of communication even if their psychomotor manifestations and meanings are different during development.While tonic dialogue is vital for the child in the constitution of the attachment bond, psychomotor instability is the expression of a difficulty in relating to reality. In the clinic it is difficult to place instability in international diagnostic classifications, due to the multi-problematic nature and variability of expressions of it. Research confirms the consequences of a disorder of tonic dialogue, constituting a model on which future behaviors will be organized. The authors hypothesize that each stage of the body communication, if lived with difficulty, constitutes a matrix on which diversified expressions of instability will be structured. The intent, therefore, is to collect theoretical-clinical material in order to subsequently make a diagnostic classification of psychomotor instability

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.

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

The Italian autism network (ITAN): A resource for molecular genetics and biomarker investigations

Background: A 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. Methods: The 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. Discussion: The 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. Keywords: Autism Spectrum disorders; Biomarkers; Biorepository; Genetics

Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs

Several lines of evidence suggest that RBFOX1 is a key regulator of transcriptional and splicing programs in neural cells during development, and that it is expressed in a neuronal module enriched for known autism susceptibility genes. We have investigated its expression by semiquantitative RT-PCR in accessible nonbrain resources in eighteen autism spectrum disorder sib-pairs belonging to the Italian Autism Network cohort. RBFOX1 gene expression was detected in lymphoblastoid cell lines but not in lymphocytes. No significant differences between autism spectrum disorders and non-affected brothers were found. We were not able to replicate in lymphoblastoid cell lines the previously reported RBFOX1 gene downregulation in autism, even if a trend was observed. This might be due to less pronounced transcription level differences in RBFOX1 gene expression in lymphoblastoid cell lines than in brain samples. \ua9 2014 Elsevier Ltd

The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations

A 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