Cognitive impairment in Schwartz-Jampel syndrome: a case study.

Schwartz-Jampel syndrome (SJS) is a rare, hereditary neuromuscular disorder. The prevalence of mental retardation has been estimated at 25%, however, no etiologic cause has been described. Neuropsychologic and speech language evaluations of an 8-year-old boy with SJS showed a developmental language disorder and attention deficit disorder. He performed in the impaired range on linguistic/sequential information processing tests while performing in the average range in visuoperceptual and nonverbal tests of intelligence and memory. These results suggest further investigation of the cognitive and language functioning of patients with SJS.