Autism Spectrum Disorders
Conditions
Keywords
Autism, PTEN, macrocephaly
Brief summary
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.
Interventions
None listed
Sponsors
National Institutes of Health (NIH)
National Center for Research Resources (NCRR)
The Cleveland Clinic
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
2 Years to 50 Years
Healthy volunteers
Yes
Inclusion criteria
* Clinical diagnosis of autism * Consent from parents or guardians or an adult with or suspected of having an autism spectrum disorder that does not require a legal guardian or an adult who is the healthy sibling of an individual with an autism spectrum disorder. * Youth ages 2-17 and adults ages 18-50. Youths and adults who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent. * Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish. * Youth ages 2-17 and adults ages 18-50 who do not have an autism spectrum disorder or are not suspected of having an autism spectrum disorder and who have a sibling with an autism spectrum disorder who has participated in the present study.
Exclusion criteria
* Clinically significant medical disease that would prohibit participation in the study procedures. * Children younger than 2 years old and adults older than 50 years old.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Total Brain Volume | Baseline |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| ASD With PTEN Individuals with autism spectrum disorder who are also found to have a PTEN mutation. | 26 |
| ASD no PTEN Macrocephaly Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. | 27 |
| ASD no PTEN no Macrocephaly Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. | 61 |
| Siblings Siblings of individuals with autism spectrum disorders. | 24 |
| Total | 138 |
Baseline characteristics
| Characteristic | ASD With PTEN | ASD no PTEN Macrocephaly | ASD no PTEN no Macrocephaly | Siblings | Total |
|---|---|---|---|---|---|
| Age, Continuous | 11.9 years | 13.3 years | 9.0 years | 11.7 years | 11.4 years |
| Sex: Female, Male Female | 8 Participants | 4 Participants | 8 Participants | 10 Participants | 30 Participants |
| Sex: Female, Male Male | 18 Participants | 23 Participants | 53 Participants | 14 Participants | 108 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk | EG003 affected / at risk |
|---|---|---|---|---|
| deaths Total, all-cause mortality | — / — | — / — | — / — | — / — |
| other Total, other adverse events | 0 / 0 | 0 / 0 | 0 / 0 | 0 / 0 |
| serious Total, serious adverse events | 0 / 26 | 0 / 27 | 0 / 61 | 0 / 24 |
Outcome results
Primary
Total Brain Volume
Time frame: Baseline
Population: 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.
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| ASD With PTEN | Total Brain Volume | 1634.1 cubic centimeters | Standard Deviation 272.6 |
| ASD no PTEN Macrocephaly | Total Brain Volume | 1409.8 cubic centimeters | Standard Deviation 158.6 |
| ASD no PTEN no Macrocephaly | Total Brain Volume | 1236.7 cubic centimeters | Standard Deviation 121.3 |
| Siblings | Total Brain Volume | 1401.9 cubic centimeters | Standard Deviation 199.2 |