Autism Spectrum Disorder | Overview
Investigations of Neuroplasticity Mechanisms in Autism Spectrum Disorders
Overview
The purpose of this study is to investigate brain plasticity in children with Autism Spectrum Disorder (ASD). In this study researchers will measure brain plasticity with transcranial magnetic stimulation (TMS)
Who Can Participate?
To participate, children must be between the ages of 6-16 and have a diagnosis of ASD.
Participation Details
This study involves 4 visits to Boston Children’s Hospital. Participants will be asked to undergo a neurological exam, neuropsychological assessments, behavioral tasks, and TMS.
Study Description
Brain plasticity is the brain’s ability to change and learn through experience. Research suggests that during development the brains of individuals with ASD may change in response to their experiences differently than the brains of typically developing individuals. This research will help to understand why and how this difference may contribute to the symptoms of ASD.
Specifically this study will measure brain plasticity with TMS, a way to noninvasively activate specific brain areas through the scalp that has been used for years in neurology and psychiatry.
Research Contact
Mary Ryan at Mary.Ryan@childrens.harvard.edu
Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations
Overview
The purpose of this study is to learn more about the symptoms and characteristics of people with Autism Spectrum Disorders (ASD) and PTEN mutations with the goal of gaining more information about risk management and to identify biomarkers (symptoms or characteristics of a disease at a certain stage) for intervention studies.
Who Can Participate?
Individuals 3-21 with a diagnosis of PTEN, PTEN and ASD, or ASD and Macrocephaly are eligible to participate. The primary language of the participating family must be English.
Participation Details
Participation in this study requires 3 onsite visits over 2 years. Two additional visits will take place over the phone at the 6 month intervals between yearly onsite visits. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions and neuropsychological assessments and a blood draw done for laboratory studies.
Study Description
Autism Spectrum Disorders are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. PTEN is a gene which, when mutated, can cause tumors or growths in the body. Studies in the past suggest that there is a link between ASD and PTEN gene mutations.
This study is aimed at learning more information about phenotypic characteristics of ASD and PTEN. Researchers hope to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD that may serve as treatment targets
Research Contact
Sarah Mischianti at Sarah.Mischianti@childrens.harvard.edu or 617-919-3499.
Autism Spectrum Disorder and Intellectual Disability Determinants in Tuberous Sclerosis Complex
Overview
Researchers at Boston Children’s Hospital are currently conducting a clinical research study for individuals between the ages of 3-21 years with a diagnosis of Tuberous Sclerosis Complex (TSC) and Autism Spectrum Disorder (ASD) and/or intellectual disability (ID). The goal of this study is to find earlier signs of autism and ID and gain a better understanding of ASD/ID in individuals with TSC so that effective treatments and interventions for ASD/ID can be found.
Who Can Participate?
Individuals 3-21 with a diagnosis of TSC and confirmed/ suspected ASD and/or ID are eligible to participate. The primary language of the participating family must be English, and one biological parent must be willing to provide a blood sample. Individuals who have a history of systemic mTOR inhibitor usage or major brain trauma or surgery are not eligible to participate.
Participation Details
The study involves five visits over a two year period. Three of the visits occur on-site at Boston Children’s Hospital. The other two visits occur as phone calls. The on-site visits include blood draws, physical/neurological exams and behavior testing.
Study Description
This study focuses on the genetic disorder TSC as a model for ASD. Tuberous Sclerosis is a multi-system disease that can present in many different ways both among and within families. People with TSC have a higher chance of getting ASD, also called autism, as well as ID. The purpose of this research study is to learn more information about ASD/ID in individuals with TSC through neurobehavioral assessments and magnetic resonance imaging (MRI) so that new and effective treatments and interventions for ASD/ID can be discovered.
This study is taking place at 5 institutions throughout the country: Boston Children's Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of Texas at Houston and University of California at Los Angeles.
Research Contact
Sarah Mischianti at Sarah.Mischianti@childrens.harvard.edu or 617-919-3499
Treatment of children with Autism Spectrum Disorders and Epileptiform EEG with Divalproex Sodium
Brief Description
Researchers at Boston Children’s Hospital are investigating if the drug Depakote (divalproex sodium) is able to treat abnormal EEG’s without seizures, as well as behavioral and neurological symptoms in children with Autism Spectrum Disorders (ASD)
Eligibility for Study Participation
To participate, children must be between the ages of 4-10, have been diagnosed with ASD and have abnormal EEG’s without seizures.
Participation Details
Participation in the study lasts about 30 weeks (7 months). In one half of the study the patient will receive the investigational study drug. In the other half, they will receive a placebo. Participation includes 10 visits to the hospital, 3 overnight visits for sleep evaluation and EEGs, and weekly phone calls to monitor progress. Study visits may involve behavioral and neurological testing, physical exams and medical history, and blood draws to monitor study drug. Study medication, either the active drug or placebo will be provided at no cost.
Full Description
This study is examining if Depakote is effective in treating children who have been diagnosed with ASD and have an abnormal EEG without seizures. Depakote is currently available with a prescription as an anti-seizure medication but is not routinely prescribed to treat abnormal EEGs without seizures. This study will try to determine if administration of Depakote results in improvement in behavior compared to a placebo and if it has an effect on reducing EEG discharges in children with ASD.
Investigations of Neuroplasticity Mechanisms in Autism Spectrum Disorders
Brief Description
The purpose of this study is to investigate brain plasticity in children with Autism Spectrum Disorder (ASD). In this study researchers will measure brain plasticity with transcranial magnetic stimulation (TMS)
Eligibility for Study Participation
To participate, children must be between the ages of 6-16 and have a diagnosis of ASD.
Participation Details
This study involves 4 visits to Boston Children’s Hospital. Participants will be asked to undergo a neurological exam, neuropsychological assessments, behavioral tasks, and TMS.
Research Contact
Ryan Hodgeman at Ryan.Hodgeman@childrens.harvard.edu
Full Description
Brain plasticity is the brain’s ability to change and learn through experience. Research suggests that during development the brains of individuals with ASD may change in response to their experiences differently than the brains of typically developing individuals. This research will help to understand why and how this difference may contribute to the symptoms of ASD.
Specifically this study will measure brain plasticity with TMS, a way to noninvasively activate specific brain areas through the scalp that has been used for years in neurology and psychiatry.
Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations
Brief Description
The purpose of this study is to learn more about the symptoms and characteristics of people with autism spectrum disorders (ASD) and PTEN mutations with the goal of gaining more information about risk management and to identify biomarkers (symptoms or characteristics of a disease at a certain stage) for intervention studies.
Eligibility for Study Participation
Individuals 3-21 with a diagnosis of PTEN, PTEN and ASD, or ASD and Macrocephaly are eligible to participate. The primary language of the participating family must be English.
Participation Details
Participation in this study requires 3 onsite visits over 2 years. Two additional visits will take place over the phone at the 6 month intervals between yearly onsite visits. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions and neuropsychological assessments and a blood draw done for laboratory studies.
Research Contact
Meghan Dean at Meghan.Dean@childrens.harvard.edu or 617-919-3499
Full Description
Autism spectrum disorders are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. PTEN is a gene which, when mutated, can cause tumors or growths in the body. Studies in the past suggest that there is a link between ASD and PTEN gene mutations.
This study is aimed at learning more information about phenotypic characteristics of ASD and PTEN. Researchers hope to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD that may serve as treatment targets.
Longitudinal Study to Identify Early Biomarkers of ASD in Infants with TSC
Brief Description
The purpose of this research study is to look for early signs of Autism Spectrum Disorder (ASD) in infants with Tuberous Sclerosis Complex (TSC), a genetic disorder where ASD is common.
Eligibility for Study Participation
Infants ages 3 to 12 months who are diagnosed with TSC may be eligible to participate.
Participation Details
Participation in this study requires about 5-7 visits to Boston Children’s Hospital depending on the age of the participant at enrollment. Study visits primarily consist of EEGs, neuropsychological testing, and a physical and neurological exam, as well as an MRI when clinically indicated. Visits are usually scheduled over a few days. Some travel reimbursement is available.
Research Contact
Rachel Gerhardt at Rachel.Gerhardt@childrens.harvard.edu or 617-919-4599
Full Description
Children with TSC have a higher chance of getting ASD. Autism is usually diagnosed in children who are older than 18 months old. We want to see if we can find earlier signs of autism. To do this, we will be using tests (MRI and EEG) to look at your child’s brain. We will also use tests and questionnaires to look at how your child is behaving. The study is investigating whether these biomarkers can identify TSC patients at highest risk for autism during early development, providing a window for intervention in the future.
MRI Biomarkers of Patients with Tuberous Sclerosis Complex and Autism
Brief Description
The purpose of this study is to better understand what TSC and ASD “look like” on imaging, specifically, magnetic resonance imaging (MRI). Using MRI images of your child’s brain, we hope to learn how to identify earlier signs of autism by studying the white matter or wiring in the brain. Early diagnosis of autism in both TSC and ASD patients is expected to lead to more optimal therapies and better plans-of-care for children.
Eligibility for Study Participation
Patients TSC and/or ASD between the ages of 3-18. We are also interested in recruiting healthy controls that do not have ASD or TSC.
Participation Details
Participants will be given tests (neuropsychological testing) to assess their brain function and development, and will also have MRI scans. There will be a testing session and scan after enrollment, and then a test and scan once a year over the next four years.
Research Contact
Rachel Gerhardt at Rachel.Gerhardt@childrens.harvard.edu or 617-919-4599 or Anna Prohl at Anna.Prohl@childrens.harvard.edu
Full Description
During testing sessions, participants and their parents or legal guardians will answer questions meant to assess study subjects' language, learning, and social skills, as well as overall intellectual ability. Testing will last between 3-4 hours. During MRI sessions, participants will be asked to lie in the scanner while we take pictures of their brain. An MRI session will last for up to one hour. Compensation will be $50 for each testing session and $100 for each MRI session.
Early diagnosis of TSC and of ASD enables early interventions that can improve outcomes for most affected children. We believe this study will contribute to understanding the brain changes that lead to autism and open up new avenues for more promising therapies.