Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills.

Aspartylglucosaminuria is a lysosomal storage disorder inherited as an autosomal recessive trait. Progressive mental retardation is the main symptom, and the lifespan of the patient is abnormally short. The adaptive skills and maladaptive behaviour of 110 patients aged from 7 to 56 years were analysed using the Portage scale and the AAMD Adaptive Behaviour Scale Part two. The sample was divided into four groups; school-aged, young adults, adults and middle-aged. All patients needed help in the household and transactions outside the home. The school-aged turned out to be superior and middle-aged inferior to other groups concerning adaptive skills. The school-aged and young adults were quite independent in dressing, toileting, bathing and walking alone near the home. Out-of-home replacement became necessary in the majority in adulthood. Twenty-eight patients (25%) were regarded as having behavioural disturbances and the amount of personal disturbances increased significantly with age.