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Current Research

Studies Recruiting Children Include

Markers of Autism Spectrum Disorders in At-risk Toddlers: A Pilot Study

Researchers at the National Institute of Mental Health are seeking toddlers 12 or 18 months of age with language delays (i.e., no words at 18 months, limited vocalizations at 12 months) or typical development to participate in a study.

Most children with language delays do not develop autism. However, we hope this study will help inform us about the risk factors.

The study involves an initial screening evaluation that will include a comprehensive caregiver interview and behavioral assessment. Eligible participants will then complete an overnight sleep study/EEG and an MRI scan. Follow-up visits that include behavioral assessment will occur every 6-12 months, with the final study visit occurring at 36 months of age. Participants enrolled at 12 months of age will have 3 follow-up visits (18, 24 months and a final visit at 36 months), and participants enrolled at 18 months will have 2 follow-up visits (24 months and a final visit at 36 months). The final study visit will involve behavioral assessment, sleep/EEG study, and MRI.

This study will involve both outpatient and inpatient visits and will be conducted at the NIH Clinical Center in Bethesda, Maryland.

Compensation will be provided. If you are interested please call 301-435-7962 (TTY: 1-866-411-1010) or e-mail

Near Infrared Spectroscopy in Children With Autism and ADHD

Researchers at the National Institute of Mental Health are seeking children between the ages of 4 years and 8 years who have been diagnosed with either an Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD) to participate in a study examining the use of Near Infra-Red Spectroscopy (NIRS). A group of children who are typically developing will also be recruited as a comparison group.

The purpose of this study is to test whether the NIRS system, which is a functional imaging technique that can monitor brain activity while allowing for movement, can be used to monitor cognitive brain activity and detect differences in children who are diagnosed with an ASD or ADHD. The study involves an initial screening evaluation that will include a comprehensive caregiver interview and behavioral assessment of the child. Eligible participants will then complete a NIRS scan while performing computer generated tasks. One follow-up visit at an 18 month interval will include another administration of the NIRS scan while the participant completes computer generated tasks. This study will involve outpatient visits and will be conducted at the NIH Clinical Center in Bethesda, Maryland.

The results of this study will provide information about the utility of the NIRS technique to detect differences in children with ASD or ADHD and may aid in the understanding of the cognitive functions that underlie these disorders.

Compensation will be provided. If you are interested please call 301-435-7962 (TTY: 1-866-411-1010) or e-mail National Institute of Mental Health, National Institutes of Health, Department of Health & Human Services.

Diagnosis and Treatment of Childhood-onset Behavioral Disorders, Neuropsychiatric Disorders and Neurodevelopmental Disorders

The aim of this protocol is to evaluate and treat various behavioral, neuropsychiatric, and neurodevelopmental disorders.  Researchers at the National Institute of Mental Health (NIMH) are working to better characterize the natural history of children, adolescents, and adults with these conditions.  This protocol also affords the Pediatrics and Developmental Neuroscience Branch staff and trainees the opportunity to further develop assessment and diagnostic skills.

Thorough medical, neuropsychological, and laboratory assessments are incorporated in this cross-sectional study as a means of elucidating the complex biological underpinnings of neuropsychiatric symptoms.  Possible assessments include history and physical exams, psychiatric history, neuropsychological testing, brain imaging, blood and urine testing, and lumbar puncture for cerebrospinal fluid analysis. While there are no formal outcome measures in this protocol, assessments of responses to standard-of-care therapies may also be evaluated.  Participants may be asked to return to the NIMH for multiple visits in order to measure longitudinal changes in clinical presentation. Additionally, family members can often help researchers improve the clinical picture by participating in genetic analyses.  The results of this protocol will help generate future hypotheses and design protocols with the intent of expanding on relevant findings. Participants must have previously participated in research with PDN prior to enrollment.  In addition, this study is not open for self-referrals.

Mapping the Genotype, Phenotype, and Natural History of Phelan McDermid Syndrome (PMS)

Study Summary: The purpose of this study is to fully define Phelan-McDermid Syndrome using standardized medical, cognitive, and behavioral measures. Additionally, this study will track how Phelan-McDermid Syndrome develops and progresses over time using repeated longitudinal assessments (measurements over time), as well as identify genetic factors which contribute to the many different symptoms that different subjects with Phelan-McDermid Syndrome experience. For Diseases: 22q13 Deletion syndrome, Phelan-McDermid Syndrome, Shank3 deletion/mutation

Background: Phelan-McDermid Syndrome (PMS), or 22q13 Deletion syndrome, caused by a loss of one copy of the SHANK3 gene, is characterized by global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, and autism spectrum disorder. The goal of this study is to understand more about the biology behind PMS and the different ways that the disease can present in individuals, as well as to create the foundation for future clinical trials (research studies) in PMS and in other ID/ASD-associated disorders that share signaling pathways with PMS.

About this Study: This is a longitudinal study of 90 individuals with PMS. Individuals with PMS will be asked to participate in this study if they are between 3 and 21 years of age and have pathogenic deletions or mutations of the SHANK3 gene. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals’ primary language must be English. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis.

The study involves 5 visits, 3 of which occur on site, over 2 years. Study visits involve a physical exam, medical history questions, blood work and neuropsychological assessments. If individuals have certain clinically indicated procedures (i.e. MRI, EEG, etc.) due, they will have them done as part of the research study.

This study is taking place at 4 institutions throughout the country: Boston Children's Hospital, Icahn School of Medicine at Mount Sinai, Rush University Medical Center and the National Institutes of Health.

Targeted Enrollment:

To be eligible to participate, you must meet the following criteria:

  • Between the ages of 3 to 21 years old
  • Have pathogenic deletions or mutations of the SHANK3 gene
  • Primary language is English

You are not eligible to participate if:

  • Younger than 3 years old or older than 21 years old
  • Primary language is not English

How to participate: If you are interested in participating in this research or would like to learn more about it, please contact Rajna Filip-Dhima at or 617-919-7068. Additional participating sites located here.

Studies Recruiting Adults Include the Following Collaborations

Neuroimmune Activation in Autism

People with autism and autism spectrum disorders have problems with communication, behavior, and socializing, and many also have intellectual and developmental disabilities. The cause of autism is not known, but previous research has suggested an association between autism and immune changes in the brain. Researchers are interested in using the experimental radioactive drug (11C)PBR28, which attaches to a target in the brain that is involved in immune changes. Using positron emission tomography (PET) scanning of people with and without autism, researchers will see if there are greater immune changes in people with autism.

Objective: To determine if positron emission tomography scanning can be used to evaluate changes in an immune system target in the brains of people with autism.


  • Individuals between 18 and 45 years of age who have been diagnosed with either autism or autism spectrum disorders, or are healthy volunteers.
  • Individuals must be in good health, with no history of serious head trauma.


  • Participants will be screened with a physical examination and psychological examination, medical history, questionnaires about behavior and mood, and blood and urine tests.
  • Participants will have two imaging studies of the brain at separate study visits. The first study visit will involve a magnetic resonance imaging (MRI) scan to provide a baseline image of the brain. The second study visit will involve PET scan with the radioactive chemical (11C)PBR28 to study an immune system target (called translocator protein) in the brain. The MRI scan will take about 40 minutes, and the PET scan will take about 2 hours.

Transportation reimbursement may be provided. Compensation is provided for participation.
Call: 301-435-8982
(TTY: 1-866-411-1010)
Email:  or for other
Please refer to study # 11-M-0118

Protein Synthesis in the Brain of Patients With Fragile X Syndrome

This research seeks to understand how protein formation in the brain is affected in fragile X syndrome (FXS). Researchers will measure the rate at which the brain makes proteins (protein synthesis) and may identify specific parts of the brain affected in FXS. In the future, measurement of protein synthesis in FXS may help us to develop and test new therapies.

The study enrolls eligible young mean with FXS, ages 18-24, from around the world, and includes one visit, lasting several days, to the NIH Clinical Center in Bethesda, Maryland. Study Includes: Assessment by physicians, blood draws, two brain scans (PET & MRI), and possible sedation. The cost of travel, food, and lodging, are covered and include the study participant and one or two accompanying family members. Compensation is paid for your time and assistance.

Please consider enrolling your child in our clinical study of FXS. If you would like to participate, or would simply like to have more information:, please call Inna Loutaev, 301-496-4707, or E-mail