Neurogenetics and Neurodevelopment Program

The section was established in 2024 to serve patients and families with a broad range of neurogenetic and/or neurodevelopmental conditions. Our mission is threefold:

• Providing expert clinical consultation, diagnosis, and management for individuals and families
• Conducting groundbreaking scientific research at the local, regional, and national levels
• Furthering education and outreach initiatives and advocating for ongoing quality improvement

We serve children and teenagers with a wide variety of conditions that lead to differences in development, learning, behavior, and motor function. Many of these conditions are caused by changes in genes and/or chromosomes. Examples of the conditions we specialize in include the following:

• Attention deficit hyperactivity disorder (ADHD)
• Autism spectrum disorder
• Brain malformations
• CDKL5 disorder
• Cerebral palsy
• Chopra-Amiel-Gordon Syndrome (CAGS)
• Congenital cranial dysinnervation disorders
• Developmental delay
• Intellectual disability
• Genetic epilepsies
• Kleefstra syndrome
• Learning disabilities
• Mitochondrial disorders
• Neurometabolic disorders
• Phelan-McDermid syndrome
• PTEN hamartoma tumor syndrome
• Rett syndrome
• Tuberous sclerosis complex

The experts within the Neurogenetics and Neurodevelopment Section provide:

• Careful evaluation or re-evaluation of individuals with neurogenetic and/or neurodevelopmental conditions
• State-of-the-art diagnostic evaluation, including genetic testing and genetic counseling
• Comprehensive management of neurological and neurodevelopmental symptoms, personalized to the individual, based on principles of precision medicine
• Coordination of care with other specialty areas
• Mutual partnership between families and clinicians to optimize long-term neurological and neurodevelopmental outcomes
• Identification of resources for information and support for families
• Research into biology, natural history, and precision medicine treatment trials

Our clinicians — including child neurologists, medical geneticists, genetic counselors, nurse practitioners, and neuropsychologists — have expertise in genetics and neurodevelopment. We are focused on both clinical care and cutting-edge scientific research.

We take a cross-disciplinary collaborative approach, working closely with other experts at Boston Children’s Hospital, including:

• Developmental pediatricians
• Child psychiatrists
• Sleep medicine physicians
• Movement disorder physicians
• Neuroimmunologists
• Neuroradiologists
• Orthopedists
• Physical medicine and rehabilitation physicians
• Physical therapists
• Occupational therapists
• Speech-language therapists
• Social workers

We believe strongly in translational research that leads directly to improved outcomes for individuals and their families. Many of our team members are both healthcare providers and researchers leading innovative basic science and clinical research programs that will pave the way for precision medicine treatments for individuals with neurogenetic and neurodevelopmental conditions.