This page is dedicated to the Social and Cognitive Functioning Disorders research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Social and Cognitive Functioning Disorders research study, established at Boston Children’s in 2019 and led by Dr. Ryan Doan, has enrolled more than 150 patients and their families.
Disease Information
Social and cognitive functioning disorders (e.g., ADHD, OCD, dyslexia) are a group of neurodevelopmental disorders caused by differences in the development and function of the nervous system. Learn more about ADHD, OCD, and dyslexia at Boston Children’s.
Key Outcomes
Key outcomes include diagnostic findings in 18% of patients and candidate findings in 13% that are being further researched.
Genes of Interest
EP400 KMT2B KMT2C SETD1B
Participate in Research
Physicians may refer their patients with social and cognitive functioning disorders including ADHD, Dyslexia, and OCD to Dr. Doan. Interested families may also self-refer to the study. To do so, use this form to provide contact information to request more information about the study.
Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Doan’s research on the Doan Lab webpage.
Patient Care
Patients and their families with social and cognitive functioning disorders can be seen by an expert multidisciplinary teams in the Developmental Medicine Center or Department of Psychiatry and Behavioral Sciences at Boston Children’s.
Patient Stories
In 2024, a 6-year-old patient diagnosed with ADHD and experiencing feeding difficulties thought to be unrelated and anxiety-based underwent genetic testing as part of this research cohort. The findings revealed a variant in the SETBP1 gene, which is associated with SETBP1 haploinsufficiency disorder (SETBP1-HD). This ultra-rare neurodevelopmental disorder is linked to feeding difficulties, confirming that the issues were not anxiety-based but rather aligned with the identified gene variant. The findings provided important genetic answers to the clinician and the family, clarifying what to expect and to prepare for any future services and supports the child may need. Additionally, it raised awareness about potential risks for other family members. This case highlights the significance of genetic testing for children with ADHD, as this research study has shown that 10 to 20% of the cases may reveal an identifiable pathogenic variant in a known gene associated with autism, intellectual disability, and other neurodevelopmental disorders. Genetic findings are instrumental in providing families with a deeper understanding of their generational medical history and guiding them toward informed decisions and support.
Investigator
Anne Arnett, PhD (Collaborator)
William Barbaresi, MD (Collaborator, Chief, Division of Developmental Medicine)
Divisions
Notable Publications by Investigator
Disease Support Organizations
American Dyslexia Association
The American Dyslexia Association Inc. is a nonprofit organization that focuses its efforts on providing help for dyslexic and dyscalculic people with free information and teaching aids.
Attention Deficit Disorder Association (ADDA)
ADDA is a worldwide inclusive community of supportive ADHD adults who make it possible to thrive with ADHD. ADDA provides a welcoming and safe environment, delivers reliable information, encourages innovative approaches, and models ADHD best practices.
CHADD
Children and Adults with Attention-Deficit/Hyperactivity Disorder (CHADD) is a nonprofit organization founded in response to the frustration and sense of isolation experienced by parents and their children with ADHD. Today, CHADD is the leading nonprofit national organization for children and adults with ADHD providing support, education, and encouragement to parents, educators, and professionals on a grassroots level through CHADD chapters.
International Dyslexia Association
The International Dyslexia Association (IDA) is a nonprofit charity, organized and operated to provide advocacy, resources and services to teaching professionals, advocates and individuals and families impacted by dyslexia and other related learning differences.
International OCD Foundation (IOCDF)
The IOCDF is the largest nonprofit organization dedicated to serving a broad community of individuals with obsessive compulsive disorder (OCD) and related disorders, their family members and loved ones, and the mental health professionals and researchers around the world.
LD OnLine
LD OnLine is the leading website on learning disabilities and learning differences. Parents and teachers of children with learning disabilities will find supportive and authoritative guidance on attention deficit disorder, ADD / ADHD, dyslexia, dysgraphia, dyscalculia, reading difficulties, speech, and related disorders.
Made By Dyslexia
Made By Dyslexia is a global dyslexia charity and the world’s largest community of dyslexic people, helping the world to understand the value of Dyslexic Thinking.
The Dyslexia Foundation
The Dyslexia Foundation facilitates and disseminates scientific breakthroughs and advances in dyslexia through collaboration among neuroscientists, cognitive scientists, geneticists, and practitioners.