Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients

NCT05671107 | Completed

• 2 other identifiers: 2021-013JCU-20-001
• Study Type: observational
• Target: 300
• Locations: 2 countries
• Sites: 2

Brief Summary

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.

Conditions

PTEN Hamartoma Tumor Syndrome

Keywords

Neurodevelopmental disorders; PTEN; PHTS; Autism; Online Assessment; Neurobehavioral

Outcome Measures

Primary Outcomes (6)

• 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.

  Four months later

Secondary Outcomes (27)

• Restrictive and Repetitive Behaviors

  Baseline

• Restrictive and Repetitive Behaviors

  One month follow up

• Restrictive and Repetitive Behaviors

  Four month follow up

• Anxiety

  Baseline

• Anxiety

  One month follow up

Study Arms (4)

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.

Diagnostic Test: NET

PTEN - without NDD

Patients diagnosed with PTEN Hamartoma Tumor Syndrome

Diagnostic Test: NET

Sibling Controls

Siblings related to patients with diagnosis of PTEN Hamartoma Tumor Syndrome

Diagnostic Test: NET

Unrelated Controls

Unrelated participants with no known genetic or neurodevelopmental disorder

Diagnostic Test: NET

Interventions

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

PTEN - with NDD; PTEN - without NDD; Sibling Controls; Unrelated Controls

Eligibility Criteria

• Age: 3 Years - 45 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Community sample

You may qualify if:

• Has a PTEN Hamartoma Tumor Syndrome diagnosis with or without a neurodevelopment disorder
• Access to a tablet (10+ inch screen), laptop, or desktop computer
• Access to reliable internet
• Able to attend to short videos (30 plus seconds)
• Able to hear audio from a computer device
• Able to see without corrective lenses

Sponsors & Collaborators

• John Carroll University: lead
• University Hospital Southampton NHS Foundation Trust: collaborator

Study Sites (2)

John Carroll Univeristy

University Heights, Ohio, 44118, United States

Location

University Hospital South Hampton

Hampton, Southampton, S016 6YD, United Kingdom

Location

MeSH Terms

Conditions

Hamartoma Syndrome, Multiple; Neurodevelopmental Disorders; Autistic Disorder

Condition Hierarchy (Ancestors)

Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Autism Spectrum Disorder; Child Development Disorders, Pervasive

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 16, 2022
• First Posted: January 4, 2023
• Study Start: September 9, 2021
• Primary Completion: June 1, 2024
• Study Completion: June 30, 2024
• Last Updated: September 19, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: CSR
• Time Frame: Within one year of study completion

Locations

GB (1); US (1)