Autism Spectrum Disorder
Conditions
Keywords
Autism, miRNA, Eye Tracker, biomarkers
Brief summary
Early identification and diagnosis of autism spectrum disorder (ASD) is necessary to promote access to early treatment. Despite the high incidence, in Italy it is estimated that 1 in 77 children (age 7-9 years) (Narzisi et al., 2018), the diagnosis and the choice of rehabilitation treatment for patients with Autism Spectrum Disorder (ASD) are still based on clinical observation. In the absence of targeted pharmacological therapies, early surveillance and evaluation aimed at timely intervention represent the only successful strategy to reduce the severity of symptoms (Palomo R et al., 2006) and improve the quality of life of children affected by ASD and their families, thus also leading to a reduction in costs for the National Health Service (Ganz ML. 2007). However, compared to the great advances in neuroscience, the clinical management of autistic individuals is seriously lagging behind, and the disorder is often diagnosed after 3-4 years of age despite the presence of deficits starting from the very first months of life (Zwaigenbaum L et al. al., 2013). The aim of this project is to bridge the gap between research and clinic, thanks to the convergence of multiple biological and clinical data.
Detailed description
The purpose of this project is to combine multiple biological levels of information and their matching with the clinical phenotype and personal/family anamnesis of the single individual. In fact, by stratifying multiple levels of biomarkers, including behavioral (eye tracking), clinical and neuropsychological variables, parameters taken from transcriptomics (RNAseq), the goal is to identify a panel of intermediate biomarkers capable of (a) distinguishing autistic subjects from typically developing brothers/sisters, (b) to distinguish autistic subjects from typically developing subjects, (c) to stratify autistic patients into a limited number of homogeneous subgroups by physiopathology, in order to allow personalized pharmacology and improve their management clinic.
Interventions
DIAGNOSTIC_TESTSalivary collection
Collection of saliva via swab for miRNA processing
DIAGNOSTIC_TESTeye-tracking recorder
Administration of eye-tracking session recording Saccadic Eye Movements, fixation duration and pupillary response.
DIAGNOSTIC_TESTneuropsychological assessment
Administration of neuropsychological tests and collected patient medical history
Sponsors
Regione Sicilia
IRCCS Centro Neurolesi Bonino Pulejo
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
4 Years to 17 Years
Inclusion criteria
Autistic Spectrum Disorder patients, Inclusion Criteria: * aged between 4 and 17years; * Autism Spectrum Disorder diagnosed according to Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria; * healthy brothers/sisters, aged 4 to 17 years; * adequate ocular vision, i.e. absence of objective eye problems such as double vision, cataracts, etc.; * ability to maintain position in front of the monitor, i.e. knowing how to maintain or regain posture independently or with the help of postural aids; * cognitive skills appropriate to the task such as being able to recognize images. ASD siblings and Typical Developmental children, Inclusion Criteria * aged between 4 and 17years; * typical development, absence of known pathologies; * adequate ocular vision, i.e. absence of objective eye problems such as double vision, cataracts, etc.; * ability to maintain position in front of the monitor, i.e. knowing how to maintain or regain posture independently or with the help of postural aids; * cognitive skills appropriate to the task such as being able to recognize images. Autistic Spectrum Disorder patients,
Exclusion criteria
* age not between 4 years and 17 years; * difficulty in controlling ocular motility and visual hookup; * unavailability of at least one sibling to participate in the diagnostic process; * subjects with a syndromic phenotype or for which the presence of a known genetic syndrome has already been ascertained (e.g. Syndrome Rett, Xfra, Tuberous Sclerosis, etc.). ASD siblings and Typical Developmental children,
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Salivary miRNA profile | At time of enrollment | Measures of salivary miRNA profile - identify the microRNAs differentially expressed in patients with autism spectrum disorder compared to sibling and healthy controls. |
| eye-gaze path characteristics - Saccadic Eye Movements | At time of enrollment | Saccadic eye movement assessments measure the speed and accuracy of a participant's saccadic eye movements in response to various stimuli. |
| eye-gaze path characteristics - fixation time | At time of enrollment | Total fixation duration measurements in pre-selected areas (areas of interest) |
| eye-gaze path characteristics - pupillary response | At time of enrollment | pupillary response measurements assess the changes of mean pupil diameters for the left and right eyes after exposition to pre-selected immages (areas of interest) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Vineland Adaptive Behavior Scales (VABS) II (ASD patients only) | At time of enrollment | The VABS II is a standardized semi-structured interview to measure adaptive behavior. |
| Intellectual Quotient (ASD patients only) | At time of enrollment | Intellectual quotient measured using one cognitive test per subject, chosen depending on age and language development (either Griffiths Developmental Rating Scales, Wechsler Intelligence Scale for Children - Fourth Edition, or Leiter III). |
| Autism Diagnostic Observation Schedule 2 (ASD patients only) | At time of enrollment | Ados2 is a semi-structured, standardised assessment to measure autistic behaviors. |
Countries
Italy
Contacts
Primary ContactFrancesca Cucinotta, MD, PhD
Backup ContactIRCCS Centro Neurolesi Bonino Pulejo Bio-parco delle intelligenze e delle neuro-fragilità
Outcome results
None listed