Autism
Raising a child with autism can be a frightening proposition for parents. It can mean a lifetime of managing complicated therapies and medical visits, mounting medical bills and concerns that parents may be providing assistance well into adulthood. People with autism can be college graduates with high IQs who have difficulty socializing, but they may also be nonverbal and require constant care.
Autism spectrum disorder begins early in development and encompasses autistic disorder, Asperger’s syndrome, and childhood dis-integrative disorder. With about one in 100 people affected worldwide, this disorder can manifest in many ways, leaving some highly functioning, with others requiring constant assistance. Economists expect ASD to cost the United States $461 billion annually beginning in 2025, for expenses such as adult medical care and loss of productivity by both individuals and caregivers. Families are desperate for answers on how to prevent and treat ASD.
ASD is more than four times more common among boys
Lieber Institute researchers are studying gene variations that Key Publication we know contribute to the risk and severity of autism.
In particular, they’ve examined a rare disorder called Pitt-Hopkins Syndrome that is caused by a genetic mutation that alters brain function. LIBD scientists also have found that people with ASD have a cellular abnormality that impairs the production of myelin,
a fatty substance that creates an insulative sheath around nerve fibers in the brain that allows them to communicate with each other efficiently. Producing myelin is part of a biological process critical to early brain development.
“I study syndromic forms of autism, which typically arise from single-gene mutations. We model these disorders by using patient-derived human stem cells and mouse models with specific gene mutations. We generate complex cellular models of the disease, to study how different types of neurons from the cortex develop, connect, and communicate differently in patients.”
Brittany Davis, PhD, Postdoctoral Fellow
