Staten Island, NY – The New York State Office for People With Developmental Disabilities (OPWDD) today announced the publication of findings from a study of the rare genetic disorder KBG syndrome conducted by scientists at the Institute for Basic Research in Developmental Disabilities (IBR).
KBG syndrome is caused by genetic mutations and can be characterized by intellectual disability, developmental delay, seizures, distinctive facial features and behavioral issues, among other traits.
To learn more about the relationship between the genetic mutations that cause KBG syndrome and human development, the researchers studied the prenatal, birth and postnatal (perinatal) outcomes of 42 children with KBG syndrome. They compared the prevalence of perinatal outcomes in the children with KBG syndrome with the prevalence in the general population. The researchers found complications in the children with KBG syndrome: 45.2% were born by cesarean section, 33.3% had a congenital heart defect, 23.8% were born prematurely, 23.8% were admitted to the neonatal intensive care unit, 14.3% were small for gestational age and 14.3% of their families had a history of miscarriage. These rates were higher than in the general population.
These findings further document the characteristics of KBG syndrome during the prenatal and neonatal periods. Increased understanding of these characteristics is needed to develop methods for more accurate and earlier prenatal and neonatal screening and diagnosis of KBG syndrome and for treating people with the syndrome.
“This study advances our understanding of the rare KBG syndrome,“ said OPWDD Commissioner Kerri Neifeld. “We are hopeful that it will help improve diagnosis and support families and health care personnel in caring for infants and children with KBG syndrome.”
The research team, led by geneticist and psychiatrist Gholson Lyon, MD, PhD, of OPWDD’s IBR, included colleagues Ola Kierzkowska, Kathleen Sarino, Drake Carter, Lily Guo, and Elaine Marchi, MS, of the Department of Human Genetics. These studies were funded in part by OPWDD, the KBG Syndrome Foundation and several families who have experienced KBG syndrome. These findings were published in the article, “Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome,” in the American Journal of Human Genetics Part A.
About OPWDD and IBR:
The Institute for Basic Research in Developmental Disabilities (IBR) is the research arm of the New York State Office for People With Developmental Disabilities (OPWDD). IBR also provides clinical services and conducts educational programs. OPWDD is responsible for coordinating services for New Yorkers with developmental disabilities, including intellectual disabilities, cerebral palsy, Down syndrome, autism spectrum disorders, Prader-Willi syndrome and other neurological impairments.