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| ID | Type | Description | Link |
|---|---|---|---|
| JCU-20-001 | Other Grant/Funding Number | PTEN Research Foundation |
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| Name | Class |
|---|---|
| University Hospital Southampton NHS Foundation Trust | OTHER |
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The purpose of this study is to develop a survey completed by parents, caregivers, or other informants that evaluates several important domains of functioning relevant to individuals with neurodevelopmental disorders, including autism spectrum disorder and people with genetic syndromes. Participation in this research will include assisting the research team in the development of the survey measures.
With greater understanding of the biology of PTEN Hamartoma Tumor Syndrome (PHTS), including patients with and without neurodevelopmental disorder (NDD) phenotypes, there is potential to develop novel personalized therapeutics. Given the recent observation that many PHTS patients with and without NDD have significant neurobehavioral manifestations, it will be crucial to broadly track a range of neurobehavioral domains as part of future trials. Unfortunately, there are few well-validated measures that would be appropriate for the full range of presentations in the PHTS population. Further, as a rare genetic syndrome, PHTS patients are geographically distributed making frequent data collection during research very difficult. Thus, the overarching aim of this proposal is to develop and validate an online neurobehavioral evaluation tool (NET) with caregiver-report survey scales and patient-completed webcam-collected performance measures that captures key neurobehavioral information. In partnership with patients, caregivers, and scientist-clinician experts, the study will develop, pilot test, and validate NET survey and performance measures. Specifically, at least 240 caregiver-patient pairs will be recruited (patient ages 4-24) from PHTS without NDD, PHTS with NDD, and controls (sibling and unrelated healthy controls). NET data will be collected at baseline, 1-month, and 4-month follow-up. Aim 1 will focus on the development and validation of brief, psychometrically-sound NET survey scales. Aim 2 will conduct group comparisons on NET measures. Aim 3 will use longitudinal data to evaluate short-term stability of NET survey scales and describe neurobehavioral change within and across study groups. The project will also explore the feasibility of performance measure collection, provide initial psychometric evaluation, and conduct a group comparison of performance measures. If the project aims are achieved, and future validation supports research and clinical use, the NET will be an efficient, reliable, valid, co-normed, multi-modal instrument, that, by virtue of online (at-home) administration, will decrease patient and family burden and increase the temporal resolution and power of future longitudinal studies and clinical trials.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| PTEN - with NDD | Patients diagnosed with PTEN Hamartoma Tumor Syndrome and a neurodevelopmental disorder including but not limited to autism spectrum disorder, attention-deficit disorder / attention-deficit hyperactivity disorder, speech language disorder(s), intellectual disability, global developmental delay, oppositional defiant disorder, and / or motor or developmental disorders. |
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| PTEN - without NDD | Patients diagnosed with PTEN Hamartoma Tumor Syndrome |
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| Sibling Controls | Siblings related to patients with diagnosis of PTEN Hamartoma Tumor Syndrome |
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| Unrelated Controls | Unrelated participants with no known genetic or neurodevelopmental disorder |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| NET | Diagnostic Test | Online survey measuring a variety of developmental domains including anxiety, motor, daily living skills, challenging behaviors, social communication, restrictive and repetitive behaviors, ADHD, executive functioning, mood, quality of life, and sleep |
| Measure | Description | Time Frame |
|---|---|---|
| Social Communication Interaction | Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition | Baseline |
| Social Communication Interaction | Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition | One month follow up |
| Social Communication Interaction | Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition | Four month follow up |
| Daily Living Skills | Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating. | Baseline |
| Daily Living Skills | Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating. | One month follow up |
| Daily Living Skills | Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating. |
| Measure | Description | Time Frame |
|---|---|---|
| Restrictive and Repetitive Behaviors | Develop survey and rating scales related to content areas for restrictive and repetitive behaviors. Restricted and repetitive behaviors and interests are among the three core symptoms of autism. They include repetitive movements with objects, repeated body movements such as rocking and hand-flapping, ritualistic behavior, sensory sensitivities and circumscribed interests |
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Inclusion Criteria:
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Community sample
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| John Carroll Univeristy | University Heights | Ohio | 44118 | United States | ||
| University Hospital South Hampton |
Plan to upload deidentified data to Open Science Framework
Within one year of study completion
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| ID | Term |
|---|---|
| D006223 | Hamartoma Syndrome, Multiple |
| D065886 | Neurodevelopmental Disorders |
| D001321 | Autistic Disorder |
| ID | Term |
|---|---|
| D006222 | Hamartoma |
| D009369 | Neoplasms |
| D009378 | Neoplasms, Multiple Primary |
| D009386 | Neoplastic Syndromes, Hereditary |
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| Four months later |
| Baseline |
| Restrictive and Repetitive Behaviors | Develop survey and rating scales related to content areas for restrictive and repetitive behaviors. Restricted and repetitive behaviors and interests are among the three core symptoms of autism. They include repetitive movements with objects, repeated body movements such as rocking and hand-flapping, ritualistic behavior, sensory sensitivities and circumscribed interests | One month follow up |
| Restrictive and Repetitive Behaviors | Develop survey and rating scales related to content areas for restrictive and repetitive behaviors. Restricted and repetitive behaviors and interests are among the three core symptoms of autism. They include repetitive movements with objects, repeated body movements such as rocking and hand-flapping, ritualistic behavior, sensory sensitivities and circumscribed interests | Four month follow up |
| Anxiety | Develop survey questions and scales related to content areas for anxiety. Anxiety is what we feel when we are worried, tense or afraid - particularly about things that are about to happen, or which we think could happen in the future | Baseline |
| Anxiety | Develop survey questions and scales related to content areas for anxiety. Anxiety is what we feel when we are worried, tense or afraid - particularly about things that are about to happen, or which we think could happen in the future | One month follow up |
| Anxiety | Develop survey questions and scales related to content areas for anxiety. Anxiety is what we feel when we are worried, tense or afraid - particularly about things that are about to happen, or which we think could happen in the future | Four month follow up |
| Motor Skills | Develop survey questions and scales related to content areas for motor skills.A motor skill is a function that involves specific movements of the body's muscles to perform a certain task. These tasks could include walking, running, or riding a bike. In order to perform this skill, the body's nervous system, muscles, and brain have | Baseline |
| Motor Skills | Develop survey questions and scales related to content areas for motor skills.A motor skill is a function that involves specific movements of the body's muscles to perform a certain task. These tasks could include walking, running, or riding a bike. In order to perform this skill, the body's nervous system, muscles, and brain have | One month follow up |
| Motor Skills | Develop survey questions and scales related to content areas for motor skills.A motor skill is a function that involves specific movements of the body's muscles to perform a certain task. These tasks could include walking, running, or riding a bike. In order to perform this skill, the body's nervous system, muscles, and brain have | Four month follow up |
| Challenging Behaviors | Develop survey questions and rating scales related to content areas for challenging behaviors.A person's behaviour can be defined as "challenging" if it puts them or those around them (such as their carer) at risk, or leads to a poorer quality of life. It can also impact their ability to join in everyday activities. Challenging behaviour can include: aggression. self-harm. | Baseline |
| Challenging Behaviors | Develop survey questions and rating scales related to content areas for challenging behaviors.A person's behaviour can be defined as "challenging" if it puts them or those around them (such as their carer) at risk, or leads to a poorer quality of life. It can also impact their ability to join in everyday activities. Challenging behaviour can include: aggression. self-harm. | One month follow up |
| Challenging Behaviors | Develop survey questions and rating scales related to content areas for challenging behaviors.A person's behaviour can be defined as "challenging" if it puts them or those around them (such as their carer) at risk, or leads to a poorer quality of life. It can also impact their ability to join in everyday activities. Challenging behaviour can include: aggression. self-harm. | Four month follow up |
| ADHD | Develop survey questions and rating scales related to content areas for ADHD. Refers to the ongoing pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development. | Baseline |
| ADHD | Develop survey questions and rating scales related to content areas for ADHD. Refers to the ongoing pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development. | One month follow up |
| ADHD | Develop survey questions and rating scales related to content areas for ADHD. Refers to the ongoing pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development. | Four month follow up |
| Executive Functioning | Develop survey questions and rating scales related to content areas for executive functioning. Executive functioning and self-regulation skills are the mental processes that enable us to plan, focus attention, remember instructions, and juggle multiple tasks successfully. | Baseline |
| Executive Functioning | Develop survey questions and rating scales related to content areas for executive functioning. Executive functioning and self-regulation skills are the mental processes that enable us to plan, focus attention, remember instructions, and juggle multiple tasks successfully. | One month follow up |
| Executive Functioning | Develop survey questions and rating scales related to content areas for executive functioning. Executive functioning and self-regulation skills are the mental processes that enable us to plan, focus attention, remember instructions, and juggle multiple tasks successfully. | Four month follow up |
| Mood | Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind. | Baseline |
| Mood | Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind. | One month follow up |
| Mood | Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind. | Four month follow up |
| Quality of Life | Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc. | Baseline |
| Quality of Life | Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc. | One month follow up |
| Quality of Life | Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc. | Four month follow up |
| Sleep | Develop survey questions and rating scales related to content areas for sleep patterns and behaviors. | Baseline |
| Sleep | Develop survey questions and rating scales related to content areas for sleep patterns and behaviors. | One month follow up |
| Sleep | Develop survey questions and rating scales related to content areas for sleep patterns and behaviors. | Four month follow up |
| Hampton |
| Southampton |
| S016 6YD |
| United Kingdom |
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D001523 | Mental Disorders |
| D000067877 | Autism Spectrum Disorder |
| D002659 | Child Development Disorders, Pervasive |