DANVILLE, Pa. - Raising a child with Down syndrome can seem like an overwhelming responsibility. Parents may have many questions or fear what they don't understand. The Down Syndrome Clinic of Geisinger's Janet Weis Children's Hospital (JWCH) offers families education and medical support.
Down syndrome is a genetic condition that causes delays in physical and intellectual development. It is the result of an error in cell division during conception resulting in an extra copy of the 21st chromosome.
"Along with the joys of raising a child with Down syndrome, there will also be challenges," said Bonnie Anne Salbert, D.O., pediatric geneticist at Geisinger Health System. "Geisinger offers one of the few pediatric Down syndrome clinics in Pennsylvania that provides consultative support to families and their primary care physicians."
A diagnosis of Down syndrome can come through various forms of prenatal testing, or determined shortly after birth by distinct physical characteristics, including low muscle tone, a single crease across the palm, a slightly flattened profile or up-slanting eyes. The condition is then confirmed by chromosome analysis.
At Geisinger's pediatric Down syndrome clinic, a geneticist, genetic counselor, physical therapist and pediatric social worker are available to provide families with education about Down syndrome and to address any health concerns parents may have.
Because of chromosomal differences, individuals with Down syndrome are prone to certain health complications including congenital heart defects, low muscle tone, feeding difficulties, intestinal problems, vision impairment, seizures and thyroid disorders. They also have an increased susceptibility to respiratory infections. Specialists at Geisinger's clinic provide pediatricians additional medical support to ensure children are receiving the highest level of care to diagnose or treat these conditions.
"Geisinger's clinic provides parents with the resources they may be seeking to meet the needs of a child with a Down syndrome diagnosis," said Dr. Salbert, "and, it provide a support system for managing the challenges they are currently facing and could potentially face down the road."


