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This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young adults with autism. The study will compare the outcomes of two groups: one receiving a 1.5-hour genetic counseling session with a clinician and the other receiving general genetic information via a leaflet. Participants will be assessed using pre- and post-intervention questionnaires, including measures of understanding of their condition (mGCOS-24) and mental health (GAD-7 and PHQ-9). The study also explores whether mental health factors like anxiety and depression influence the effectiveness of the interventions.
The goal of this observational clinical study is to assess whether receiving genetic information about the origins of autism and related neuropsychiatric disorders, either at a population level or as individual information after genetic testing, can improve understanding of their condition, well-being, and empowerment in adolescents and young adults with autism spectrum condition (ASC). The main questions to answer are:
The comparison will be made between the group receiving a 1.5-hour genetic counseling session with a clinician and a group receiving general genetic information via leaflet by email to see if the genetic information session by the clinician leads to greater improvements in understanding, empowerment, and well-being.
Participants will:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Clinician led genetic information session | Active Comparator | Clinician-led structured genetic information session in person or through an online video link. Participants with genetic information available (clinically significant rare variants from exome sequencing and copy number variant analysis, and polygenic scores (autism, ADHD, depression, and anxiety), these will also be communicated as the last part of the session. |
|
| Leaflet genetic information | Active Comparator | The participants receive a leaflet with genetic information without in-person contact |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic counselling | Behavioral | Behavioral: genetic counselling |
|
| Measure | Description | Time Frame |
|---|---|---|
| modified Genetic Counselling Scale - 24 (mGCOS-24) | Measures changes in empowerment, understanding, and ability to use genetic information. Additional information: The mGCOS has been translated into Swedish based on the GCOS-validated Swedish translation. Change in the primary outcome will be compared between the two groups of active interventions. Subgroup analyses will be performed based on those receiving their personal genetic information vs those receiving only general population-level information. | At enrollment (pre), 1-2 weeks after intervention (post) |
| Measure | Description | Time Frame |
|---|---|---|
| Generalised Anxiety Disorder Questionnaire (GAD-7) | We will monitor the change in GAD-7 from pre to post. | Pre - Post (1-2 weeks) |
| Patient Health Questionnaire (PHQ-9) | Evaluates changes in participants' depression symptoms |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Kristiina Tammimies, PhD | Karolinska Institutet | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Karolinska Institutet | Stockholm | Sweden |
The data dictionary will be shared openly; however, the individual-level data will be restricted to necessary clearance from the Karolinska Institutet and the Swedish Ethical Review Authority through the KI Data Repository.
March 2025 -
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| ID | Term |
|---|---|
| D001321 | Autistic Disorder |
| D000067877 | Autism Spectrum Disorder |
| D001289 | Attention Deficit Disorder with Hyperactivity |
| D001008 | Anxiety Disorders |
| ID | Term |
|---|---|
| D002659 | Child Development Disorders, Pervasive |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D019958 | Attention Deficit and Disruptive Behavior Disorders |
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| ID | Term |
|---|---|
| D005817 | Genetic Counseling |
| ID | Term |
|---|---|
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
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| Leaflet | Behavioral | Genetic information as a form of a leaflet |
|
| Pre - Post (1-2 weeks) |