Williams Syndrome (WS), which is present in 1 in 7,500 children, is a complex chromosomal disorder that involves characteristic facial features, heart issues, bladder and bowel issues, cardiovascular disease, orthopedic problems, mental health and other serious medical issues that pediatricians should be prepared to see and evaluate in clinics. A new AAP clinical report, “Health Care Supervision for Children With Williams Syndrome,” in the February 2020 Pediatrics (available online Jan. 21), updates the AAP’s 2001 recommendations on WS, including new information on multiple advances in diagnosis, evaluation, and therapies that are available today. New information includes therapies for hypertension, early puberty, recommendations for cardiac intervention, and anesthesia risks. In WS, a deleted portion of the patient’s chromosomes impacts the protein elastin, an important component of the elastic fibers in many organs, which leads to the distinct characteristics and problems attached to the syndrome, including facial features and hoarse voice. Children with WS can have motor and language delays and, in 75% of children with Williams, intellectual disabilities. However, these children can often demonstrate a relative strength in language while having significant weakness in many other cognitive tasks. The AAP’s new report recommends that pediatricians educate families and anticipate medical needs and intervention so that these children and families have improved outcomes and offers information about how to transition their care as these children with WS grow into adults.
The American Academy of Pediatrics is an organization of 67,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well-being of infants, children, adolescents and young adults.