ADULT PSYCHOSOCIAL OUTCOME IN EARLY-TREATED PHENYLKETONURIA

Concerns about the psychosocial risk of adults with early-treated phen ylketonuria (ETPKU) are predicated on four sources of scientific data: (1) consistent documentation of increased behavioural risk in childre n with ETPKU; (2) recent evidence of neurocognitive impairment in adul ts with ETPKU; (3) reports of neuroimaging abnormalities in adults wit h ETPKU; and (4) preliminary evidence of increased rates of psychiatri c disturbance in this population. We studied the psychosocial adjustme nt of 25 patients, aged 18 years and older, with ETPKU. On most psycho social outcome measures, patients were indistinguishable from 15 sibli ng controls. However, on a self-report inventory of psychiatric sympto ms, 20% of the patients demonstrated significant morbidity. Psychosoci al outcome of these patients was unrelated to concurrent or historical biological dietary disease factors, unlike neurocognitive outcome. A strong relationship was demonstrated, however, between neurocognitive measures and psychosocial morbidity. These findings indicate that a si gnificant minority of patients with ETPKU develop psychosocial difficu lties with multiple clinical elevations on a psychiatric inventory. Ho wever, most adults with ETPKU cope with the challenges of young adulth ood with the same degree of success as their unaffected siblings. Neur opsychological surveillance during childhood and adolescence is import ant in identifying patients at risk for both neurocognitive and psycho social morbidity.