Autism, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD), Neurodevelopmental Conditions
Conditions
Keywords
Autism Spectrum Disorder, Autism, Autism Diagnosis, Neurodevelopmental Conditions, Pediatric Assessment, Digital Assessment, Mobile Application, Smartphone-based Assessment, Digital Health, Remote Study, Observational Study, Eye Movements, Repetitive Behavior, Reflexive Sensorimotor Behavior, Machine Learning
Brief summary
This observational study aims to evaluate how patterns of behavioral and sensorimotor responses measured using the BlinkLab Dx1 smartphone application relate to autism diagnoses in children ages 2 to 11. BlinkLab Dx1 is a non-invasive, smartphone-based application under development as a diagnostic aid for healthcare providers assessing autism. In this study, children who have undergone a neurodevelopmental assessment within the past 12 months will complete two short, video-based sessions using the BlinkLab Dx1 app. The app presents visual and auditory stimuli and records reflexive sensorimotor responses and patterns of repetitive behavior. Additionally, primary caregivers will answer a short questionnaire in the app about symptoms and development. Information about prior neurodevelopmental assessments, including documented DSM-5-based diagnoses from routine clinical practice, will be collected retrospectively. The study will examine how the app's neurobehavioral measurements relate to previously assigned clinical diagnoses. These paired data will be used to develop and evaluate a machine learning-based algorithm using separate training and testing datasets to assess whether patterns measured by BlinkLab Dx1 can help distinguish children with autism from children without an autism diagnosis. This study does not involve any treatment or medical intervention.
Detailed description
Specification of the Time Perspective section in the Study Design: this study has a hybrid time perspective, as BlinkLab Dx1 measures are collected prospectively during remote sessions, while the clinical reference standard (presence of in a DSM-5-based diagnostic report from a neurodevelopmental assessment within the prior 12 months) is collected retrospectively. The clinical reference standard is based on neurodevelopmental assessments conducted in routine clinical care and is collected without influence from study procedures. The study will use paired BlinkLab Dx1 measurements and clinical reference standard diagnoses to develop and evaluate a machine learning-based classification algorithm. The dataset will be divided into separate training and testing subsets, with the training dataset used to develop the model and determine classification thresholds, and the independent testing dataset used to evaluate diagnostic performance. The model will generate a classification categorizing participants as "Positive for autism", "Intermediate" or "Negative for autims". Participants with intermediate results are considered to have indeterminate findings and are excluded from primary diagnostic performance analyses, which are based on participants with definitive positive or negative test results.
Interventions
DIAGNOSTIC_TESTBlinkLab Dx1
BlinkLab Dx1 is a machine learning-based algorithm that generates a continuous score reflecting likelihood of autism from neurobehavioral responses (including measures such as pre-pulse inhibition and habituation, motor activity, and vocalizations) recorded during standardized video-watching sessions in a mobile application. Pre-specified thresholds, determined during model development and fixed prior to evaluation in the independent test dataset, are applied to categorize results as " Positive for autism", "Intermediate" or "Nagative for autism". Results in the intermediate category are considered indeterminate and are excluded from primary diagnostic performance analyses, which are based on participants with definitive positive or negative test results.
BEHAVIORALRetrospective Neurodevelopmental Diagnostic Assessment
The clinical reference standard is a retrospective neurodevelopmental diagnostic assessment conducted within 12 months prior to enrollment, based on DSM-5 criteria. Participants are classified as having or not having an autism diagnosis based on the documented diagnostic conclusions of these assessments.
Sponsors
Blinklab Limited
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
2 Years to 11 Years
Healthy volunteers
Yes
Inclusion criteria
1. Age: Children between 2 to 11 years old 2. Parent/Caregiver/Healthcare Provider Concern: The child has received a diagnostic outcome of a neurodevelopmental assessment based on DSM-5 criteria within the past 12 months. 3. Language Proficiency: Parents and subjects must have functional English capability in the home environment. 4. Informed Consent: Parents must be able to read, understand, and voluntarily sign the Informed Consent Form (ICF). 5. Videotaping: subjects must be willing to be videotaped during the diagnostic assessment by the BlinkLab App.
Exclusion criteria
1. Device Compatibility: Parents without smartphone capabilities necessary for using the BlinkLab app. 2. Previous Enrollment: Subjects who have been previously enrolled in any BlinkLab clinical study. 3. Location of at home testing: Not being able to complete all remote at-home study sessions within the US. 4. History of audiogenic seizures: Participants with a known history of seizures that are triggered by auditory stimuli, including reflex or startle epilepsy provoked by sounds (audiogenic seizures), or any other form of sound-induced epilepsy.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sensitivity of BlinkLab Dx1 | Baseline (including index test completed during the enrollment period and reference standard diagnosis from assessments conducted within 12 months prior to enrollment) | Sensitivity of BlinkLab Dx1, defined as the proportion of participants with a positive clinical reference standard diagnosis of autism who are correctly identified as positive by the index test. |
| Specificity of BlinkLab Dx1 | Baseline (including index test completed during the enrollment period and reference standard diagnosis from assessments conducted within 12 months prior to enrollment) | Specificity of the BlinkLab Dx1 algorithm, defined as the proportion of participants without a clinical reference standard diagnosis of autism who are correctly identified as negative by the index test. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Adverse Events | During individual enrollment period (up to 30 days) | A qualitative description of any adverse events that occurred during the study from the time of informed consent until the completion of the diagnostic evaluation. |
| Usability | During the individual enrollment period (up to 30 days) | The usability of the device for parents/caregivers in relation to the use-related risk analysis identified risks. |
| Autism Symptom Severity | Baseline (including neurodevelopmental assessment data from up to 12 months prior to enrollment and a single SRS-2 assessment collected once during the enrollment period [up to 30 days after enrollment]) | Based on prospectively collected SRS-2 questionnaire scores and retrospectively collected standardized autism assessment results documented in the neurodevelopmental assessment report. |
| Positive Predictive Value (PPV) of BlinkLab Dx1 | Baseline (including index test completed during the enrollment period and reference standard diagnosis from assessments conducted within 12 months prior to enrollment) | Positive predictive value, defined as the proportion of participants with a positive BlinkLab Dx1 test result who have a positive clinical reference standard diagnosis of autism. |
| Negative Predictive Value of BlinkLab Dx1 | Baseline (including index test completed during the enrollment period and reference standard diagnosis from assessments conducted within 12 months prior to enrollment) | Negative predictive value, defined as the proportion of participants with a negative BlinkLab Dx1 test result who do not have a clinical reference standard diagnosis of autism. |
| False Positive Rate of BlinkLab Dx1 | Baseline (including index test completed during the enrollment period and reference standard diagnosis from assessments conducted within 12 months prior to enrollment) | False positive rate, defined as the proportion of participants without a clinical reference standard diagnosis of autism who are incorrectly identified as positive by the BlinkLab Dx1 index test. |
| False Negative Rate of BlinkLab Dx1 | Baseline (including index test completed during the enrollment period and reference standard diagnosis from assessments conducted within 12 months prior to enrollment) | False negative rate, defined as the proportion of participants with a clinical reference standard diagnosis of autism who are incorrectly identified as negative by the BlinkLab Dx1 index test. |
| Accuracy of BlinkLab Dx1 | Baseline (including index test completed during the enrollment period and reference standard diagnosis from assessments conducted within 12 months prior to enrollment) | Accuracy, defined as the proportion of all participants who are correctly classified by the BlinkLab Dx1 index test (i.e., the sum of true positives and true negatives divided by the total number of participants), relative to the clinical reference standard diagnosis. |
Countries
United States
Contacts
CONTACTMyrthe J. Ottenhoff, MD, PhD
Outcome results
None listed