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| ID | Type | Description | Link |
|---|---|---|---|
| UL1RR024989 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| National Center for Research Resources (NCRR) | NIH |
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The purpose of this research is to better understand the genetic, biochemical, cognitive and behavioral symptom abnormalities that contribute to autism spectrum disorders. The investigators anticipate recruiting at least 100 participants with autism spectrum disorder and large head size, at least 100 participants with autism spectrum disorder without large head size and at least 40 healthy siblings. Biological parents are expected to be recruited only as genetic changes are identified in individuals with autism spectrum disorders to better understand the nature of these genetic changes. Participants are asked to complete cognitive testing, a blood draw, urine collection and measurement of his/her height, weight and head circumference. Parents or caregivers may be asked to complete a diagnostic evaluation and will complete questionnaires that examine the participant's medical and family history as well as his/her current symptoms, functioning, and quality of life. A brief report simply listing and giving a basic description of any behavioral diagnostic information, autism symptoms, adaptive functioning, and a listing of results from cognitive testing will be provided as part of this study.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ASD with PTEN | Individuals with autism spectrum disorder who are also found to have a PTEN mutation. | ||
| ASD no PTEN macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. | ||
| ASD no PTEN no macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. | ||
| Siblings | Siblings of individuals with autism spectrum disorders. |
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| Measure | Description | Time Frame |
|---|---|---|
| Total Brain Volume | Baseline |
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Inclusion Criteria:
Exclusion Criteria:
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We anticipate recruiting 80 participants with autism spectrum disorder and large head size, 80 participants with autism spectrum disorder without large head size and 40 healthy siblings. Biological parents are expected to be recruited only as genetic changes are identified in individuals with autism spectrum disorders to better understand the nature of these genetic changes.
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| Name | Affiliation | Role |
|---|---|---|
| Thomas W Frazier, Ph.D. | The Cleveland Clinic | Principal Investigator |
| Charis Eng, M.D., Ph.D. | The Cleveland Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cleveland Clinic Center for Autism | Cleveland | Ohio | 44104 | United States |
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| Label | URL |
|---|---|
| Cleveland Clinic Center for Autism Research Website | View source |
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| ID | Title | Description |
|---|---|---|
| FG000 | ASD With PTEN | Individuals with autism spectrum disorder who are also found to have a PTEN mutation. |
| FG001 | ASD no PTEN Macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. |
| FG002 | ASD no PTEN no Macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. |
| FG003 | Siblings | Siblings of individuals with autism spectrum disorders. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | ASD With PTEN | Individuals with autism spectrum disorder who are also found to have a PTEN mutation. |
| BG001 | ASD no PTEN Macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Total Brain Volume | MRI acquisition was performed using Siemens Q4 TIM Trio 3 tesla scanner with standard 12-channel receive-only head coil. An 8-minute whole-brain T1-weighted inversion recovery turboflash (MPRAGE) was acquired. Volumetric measurements were obtained using the software suite Freesurfer. Not all participants received imaging due to age and impairment. | Posted | Mean | Standard Deviation | cubic centimeters | Baseline |
|
4 years 3 months from May 2010- August 2014
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | ASD With PTEN | Individuals with autism spectrum disorder who are also found to have a PTEN mutation. |
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Modest PTEN-ASD sample size and difficulty in closely matching each PTEN patient to one or more patients from each comparison group; Lack of comprehensively characterized PHTS patients without ASD is also a limitation.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Thomas W. Frazier, PhD | Cleveland Clinic Center for Autism | 216-448-6440 | fraziet2@ccf.org |
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| ID | Term |
|---|---|
| D000067877 | Autism Spectrum Disorder |
| D001321 | Autistic Disorder |
| D058627 | Megalencephaly |
| ID | Term |
|---|---|
| D002659 | Child Development Disorders, Pervasive |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D019465 | Craniofacial Abnormalities |
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About 6 tubes of blood or up to 50 ml (3-4 tablespoons) and 30 mL of urine will be collected.
| BG002 | ASD no PTEN no Macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. |
| BG003 | Siblings | Siblings of individuals with autism spectrum disorders. |
| BG004 | Total | Total of all reporting groups |
| years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| OG002 | ASD no PTEN no Macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. |
| OG003 | Siblings | Siblings of individuals with autism spectrum disorders. |
|
|
| 0 |
| 26 |
| 0 |
| 0 |
| EG001 | ASD no PTEN Macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. | 0 | 27 | 0 | 0 |
| EG002 | ASD no PTEN no Macrocephaly | Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. | 0 | 61 | 0 | 0 |
| EG003 | Siblings | Siblings of individuals with autism spectrum disorders. | 0 | 24 | 0 | 0 |
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| D009139 | Musculoskeletal Abnormalities |
| D009140 | Musculoskeletal Diseases |
| D065703 | Malformations of Cortical Development, Group I |
| D054220 | Malformations of Cortical Development |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |