AAP issues recommendations for Williams syndrome

The American Academy of Pediatrics’ (AAP) newly issued recommendations for supervising the health care of children with Williams syndrome (WS) are based on a review of the current literature along with the consensus of physicians and psychologists with expertise in managing this condition, which is caused by a deletion of part of chromosome 7.

The recommendations note that the pediatrician can use knowledge of the clinical manifestations and the natural history of WS to anticipate medical problems and to educate the patient’s family. To aid the pediatrician in doing so, the recommendations include a time line indicating the tests, evaluations, and anticipatory guidance the practitioner should provide at diagnosis through adulthood, a reflection of how WS affects various organ systems at different ages.

Also included are discussions of how to address some of the specific problems associated with WS, such as cardiovascular anomalies; hypercalcemia; gastrointestinal problems; genitourinary abnormalities; neurologic, developmental, cognitive, and behavioral problems; ocular and auditory difficulties; dental problems; and endocrine functions (Morris CA, et al. Pediatrics. 2020;145[2]:e20193761).

Thoughts from Dr. Farber

Every practicing pediatrician should be familiar with this article and similar ones published by the AAP on other conditions (eg, trisomy 21, neurofibromatosis). I recommend downloading these articles into the medical record of relevant patients to have them ready to consult (especially the time line) during visits.