No abstract

No abstract

Reports of adults with Williams syndrome (WS) have been rare. We have evaluated 13 adult WS patients and reviewed 16 case reports of WS in patients older than age 16 years. Adults in our study had progressive multi‐system medical problems. Cardiovascular complications were common (12/13) including hypertension (8), supravalvular aortic stenosis (9), aortic hypoplasia (3), pulmonic artery stenosis (4), peripheral stenoses (3), and mitral valve prolapse (2). Joint limitation (12/13) was progressive, often accompanied by kyphoscoliosis and lordosis. Recurrent urinary tract infections in 6 individuals led to radiologic studies showing urethral stenosis in 2, and bladder diverticula and vesicoureteral reflux in 3. Gastrointestinal problems included obesity (5), chronic constipation (7), diverticulosis (3), and cholelithiasis (4). Hypercalcemia was documented in 5 patients, although others had hypercalcemic symptoms (abdominal pain, polyuria, and constipation). One 45‐year‐old man had parathyroid hyperplasia. Previous reports likewise document significant morbidity. Thus, Williams syndrome in an adult appears to dictate aggressive evaluation and monitoring. Investigation of calcium metabolism should be undertaken in each adult WS patient.

Vegas ( C A M . )We investigated the natural history of Williams syndrome (WS), including physical characteristics and cognitive, academic language, sensory integration, and adaptive and maladaptive behavior in 32 patients (age 3 to 30 years). These patients were available for psychoeducational testing, parent interview, medical and educational record review, and behavioral observation. Thirty-seven nonlocal individuals (age 8 months to 31 years) were not tested but data on history and development, sensory integration, adaptive and maladaptive behavior were collected resulting in a total sample of 69. The unique constellation of physical manifestations and associated clinical problems in WS contributes to a characteristic behavioral phenotype of 6 factors beginning in infancy with development of salient attachment behaviors. Later a key issue affecting the learning abilities of both the school-aged child and adult with WS was an inadequate development in the use of tools. Theoretical constructs from developmental behavioral genetics, attachment theory, operant conditioning, neuropsychology, and psychosocial theory considered interactively offer explanations for these characteristics.