ETD

Archivio digitale delle tesi discusse presso l'Università di Pisa

Tesi etd-05182013-192824


Tipo di tesi
Tesi di dottorato di ricerca
Autore
SANTOCCHI, ELISA
URN
etd-05182013-192824
Titolo
Clinical and neurobiological indices of the developmental trajectories of autism in preschool age
Settore scientifico disciplinare
MED/39
Corso di studi
NEUROSCIENZE E SCIENZE ENDOCRINOMETABOLICHE
Relatori
tutor Prof. Muratori, Filippo
Parole chiave
  • developmental trajectories
  • biological markers
  • Autism
Data inizio appello
04/07/2013
Consultabilità
Completa
Riassunto
This thesis collects doctoral studies about developmental trajectories of autism in preschooler age and clinical and neurobiological indices of the different outcomes observed. The work has been organized into five parts. In particular, the first report regards a review study on the new diagnostic classification of Autism Spectrum Disorders (hereinafter referred to as ASD) in DSM-5. The second work is a collection of doctoral studies about diagnostic stability of ASD between 3 and 5 years of age. According to this study, Autistic Disorder (herein after referred to as AD) diagnosis is more stable than Pervasive Developmental Disorder Not Otherwise Specified (hereinafter referred to as PDD-NOS); the amount and type of treatment are not strictly related to the outcome; upon their first evaluation at about 3 y.o., ADOS Calibrated Severity Score (CSS), but not non verbal IQ (nvIQ), may be hypothesized to be a predictive factor of the outcome in ASD children.
The third study has been carried out with the collaboration of The Italian Autism Network (ITAN) study, a large national multi-centric project initiated by SmithKline Foundation with the aim of collecting biological materials (DNA, RNA, plasma and lymphoblastoid cell lines) and clinical and functional data from ASD probands in order to test whether some genetic markers already scrutinized in Autism Studies are actually associated with ADSs in a newly collected Italian ASD cohort.
A significant association was found for two of seven markers: rs4307059 T allele and rs35678 TC genotype located at loci previously associated with social and verbal communication skills.
The fourth study has been carried out in collaboration with Prof. Persico’s research group (Child and Adolescent Neuro Psychiatry Unit at the University "Campus Bio-Medico" of Rome). It is a multi-centric study in which urinary levels of p-cresol have been found to be significantly higher in 59 non-syndromic autistic children than in 59 tightly age- and sex-matched controls. Moreover, p-cresol levels have been found to be significantly higher in female autistic children if compared to males, in more severely affected autistic children regardless of their sex, and in children who experienced regressive onset.
In the fifth and last work we have studied 36 autistic subjects of whom we have collected data on developmental clinical profiles and urinary samples, thus analyzing the concentrations of total urinary p-cresol. The aims of this study are not only to confirm an elevation of this toxic compound in ASD children, but also to check for correlations between p-cresol levels on the one hand, and the clinical phenotypes and developmental profiles on the other hand.
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