Combination of Predictive Biomarkers to Increase Diagnostics Efficiency of Autism Spectrum Disorder
- Conditions
- Autism Spectrum Disorder
- Interventions
- Diagnostic Test: Salivary collectionDiagnostic Test: eye-tracking recorderDiagnostic Test: neuropsychological assessment
- Registration Number
- NCT05796310
- Lead Sponsor
- IRCCS Centro Neurolesi "Bonino-Pulejo"
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 28
- 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,
- 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, Exclusion Criteria:
- age not between 4 years and 17 years;
- subjects diagnosed with moderate/severe intellectual disability, or affected by known neurological pathologies (infantile cerebral palsy, epilepsy, sensory deficits) or with a history of preterm birth (≤32w) or underweight (≤10°ile for gestational age);
- 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.);
- difficulty in controlling ocular motility and visual hookup;
- subjects suffering from neurodevelopmental disorders or family history for ASD for the control group.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Siblings of children with Autism Spectrum Disorders eye-tracking recorder This group is comprised of 3-17 years old siblings, with typical development, of a child with an expert clinical diagnosis of autism spectrum disorders. Autism Spectrum Disorder Patients Salivary collection This group is comprised of 3-17 years children with an expert clinical diagnosis of autism spectrum disorders. Autism Spectrum Disorder Patients eye-tracking recorder This group is comprised of 3-17 years children with an expert clinical diagnosis of autism spectrum disorders. Autism Spectrum Disorder Patients neuropsychological assessment This group is comprised of 3-17 years children with an expert clinical diagnosis of autism spectrum disorders. Siblings of children with Autism Spectrum Disorders Salivary collection This group is comprised of 3-17 years old siblings, with typical development, of a child with an expert clinical diagnosis of autism spectrum disorders. Typical Development children Salivary collection This group is comprised of 3-17 years children with typical development. Typical Development children eye-tracking recorder This group is comprised of 3-17 years children with typical development.
- Primary Outcome Measures
Name Time Method eye-gaze path characteristics - fixation time At time of enrollment Total fixation duration measurements in pre-selected areas (areas of interest)
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 - 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 Outcome Measures
Name Time Method 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.
Trial Locations
- Locations (1)
IRCCS Centro Neurolesi Bonino Pulejo
🇮🇹Messina, Italy