DDM Clinical Research Lab Research Studies

The clinicians, researchers, and staff of the DM-CRL work on studies related to neurodevelopmental disorders (NDDs). We are committed to helping every child reach their full potential. Our current research studies include interventional studies/clinical trials (testing a new medicine or therapy) and observational studies (learning more about a diagnosis). Some studies can be done online or over the phone, and some require a visit to Boston Children's Hospital. If you are interested in learning more, please contact the study team at the email address listed.

DM-CRL studies currently recruiting new participants, by diagnosis:

Doan Study

PI: Ryan Doan, PhD; Elizabeth Harstad, MD, MPH

The Doan Lab is studying the genetics of ADHD with the hopes of finding new ways to diagnose and treat this disorder. Participation in this study involves sample collection in the form of saliva, blood or a cheek swab and a family medical history questionnaire.

Contact: DoanLab@childrens.harvard.edu

RHINO Study

The RHINO Study aims to learn more about how brain activity relates to ADHD symptoms. The Arnett Lab is recruiting children ages 2.5 to 4 who do or do not have a family member with ADHD, and children ages 7 to 11 with or without ADHD. To participate, a caregiver completes a short screening call, a remote interview, and online surveys. Your child will also complete EEG and cognitive/academic testing at our lab. Families receive these results, transportation reimbursement, and compensation.

Contact: ArnettLab@childrens.harvard.edu or 617-919-7771

CHD-ASD Study

The goal of the CHD-ASD sequencing study is to find genetic factors that cause autism spectrum disorder (ASD) and congenital heart disease (CHD). This study is open to BCH patients diagnosed with autism and born with a heart defect which required an intervention before the age of five years. If eligible, you will be scheduled for a 1-hour research visit, which will include a review your child’s medical and family history. Next, a cheek swab or blood sample will be collected from your child and, if available, one or both of their biological parents for genetic testing.

Contact: zoe.frazier@childrens.harvard.edu

Project CAPEabilities

PI: Carol Wilkinson

Project CAPEabilities is studying early communication and play skills in young children with Down syndrome and how they are related to the development of social and thinking skills. We are also interested in how this relates to co-occurring medical and developmental diagnoses.

Contact: Marie Canty at downsyndrome.research@childrens.harvard.edu

JASPER2 Study

PI: Carol Wilkinson

The JASPER2 Study is a completely virtual study, comparing two caregiver curriculums: a self-directed psychoeducational curriculum vs. a 1:1 caregiver coaching intervention.

Contact: Marie Canty at downsyndrome.research@childrens.harvard.edu

BRIDGE Study

PI: Carol Wilkinson

The BRIDGE Study is looking at how differences in brain activity may affect language ability in young children with Down syndrome, Fragile X Syndrome, and Autism Spectrum Disorder.

Contact: Meagan Tsou at downsyndrome.research@childrens.harvard.edu

HOME

PI: Carol Wilkinson

The BCH Down Syndrome Program is partnering with the Infant Communication Lab at Boston University in order to study how motor skill development may affect the development of play skills in young children with Down syndrome. The BCH Down Syndrome Program is partnering with the Infant Communication Lab at Boston University in order to study how motor skill development may affect the development of play skills in young children with Down syndrome.

Contact: Marie Canty at downsyndrome.research@childrens.harvard.edu

DS-CRUSH

PI: Aanchal Sharma

DS-CRUSH is working with adults with Down syndrome and their families in order to create meaningful and effective tools to educate people with Down syndrome about sexual health.

Contact: Marie Canty at downsyndrome.research@childrens.harvard.edu

TEAM-DS Clinical Trial (Quillivant)

PI: Sabrina Sargado

TEAM-DS is studying the safety and efficacy of Quillivant XR to treat ADHD in children and adolescents with Down syndrome.

Contact: Marie Canty at downsyndrome.research@childrens.harvard.edu

POP-02

PI: Sabrina Sargado

POP-02 is studying how commonly prescribed medications in Down syndrome are metabolized in the body by tacking on an extra tube to an already scheduled clinical blood draw.

Contact: Marie Canty at downsyndrome.research@childrens.harvard.edu

FORWARD-MARCH Study

PI: Lisa Prock, MD, MPH

The goal of the FORWARD-MARCH study is to better understand the natural history of Fragile X Syndrome (FXS) and to find out how we can improve the lives of individuals with FXS and the lives of their families. This study will be enrolling patients with FXS who were born between 2003 and 2017. The study involves 1 visit to Boston Children's Hospital to complete neuropsych assessments and caregivers will also complete some surveys at home. Participants will receive a small payment and a written neuropsych report after the visit.

Contact: Shelley Coughlin at connectfx@childrens.harvard.edu

RECONNECT Study

PI: Lisa Prock, MD, MPH

This is a randomized study to test the safety and effectiveness of a medication to treat behavioral symptoms associated with Fragile X Syndrome (FXS) including social withdrawal, inattention, anxiety, and irritability. The medication is an investigational cannabidiol (CBD) that is applied to the upper arms/shoulders twice daily. This study will be enrolling patients with FXS who are between 3 and 29 years old.

Contact: Shelley Coughlin at connectfx@childrens.harvard.edu

BRIDGE Study

The goal of the BRIDGE study is to investigate how differences in brain activity affect learning, language, and behavior in boys between 2 and 5 years old with Autism Spectrum Disorder, Fragile X Syndrome, and Down syndrome. The study involves 2 visits, spaced 1 year apart, at Boston Children’s Hospital Labs of Cognitive Neuroscience. Each visit includes clinical and behavioral assessments that will evaluate your child’s thinking, motor skills, language skills, and social communication. In addition, we will measure your child’s brain activity using electroencephalography (EEG). Families will receive a small payment and a written report about their child’s development after each visit.

Contact: bridgestudy@childrens.harvard.edu

Clinical trials

Clinical trials are listed above by area of study. Clinical trials are also listed here.

Quality Improvement Efforts through our Developmental Medicine Program for Clinical Innovation

Response to COVID-19: Improving the Experience of Telediagnostic Evaluations for Autism Spectrum Disorders (ASD)

The sudden transition to telemedicine raised significant concerns about our ability to diagnose ASD using this technology, as well as potentially widening disparities in care for families who require interpreters or who have limited access to technology. However, this also offered us the opportunity to assess and improve caregiver and clinician experience with telemedicine ASD evaluations and determine which families may be best suited for telediagnostic assessments. This has implications for access to ASD evaluations even after the pandemic.

Standardizing the Autism Spectrum Center (ASC) Intake process

Our team conducted a Lean Six Sigma Green Belt project to improve a complex, cross-departmental intake process that often leads to family frustration and staff distress. We successfully developed a culture of collaboration among intake staff to redesign the intake process, resulting in a standard workflow with scripts, forms, clear communication channels, and a unified triage meeting.

Complex ADHD Clinical Pathway

We have led our field in developing treatment pathways for Complex ADHD since 2012. Our algorithms are the model for the recently published Society for Developmental and Behavioral Pediatrics (SDBP) Complex ADHD guideline (February 2020). This year, we added to the pathway algorithms for ADHD with co-morbid Substance Use Disorder, ASD, and Trauma and Stressor-related Disorder.