TY - JOUR PY - 2015// TI - Fragile-X syndrome - a 20-year follow-up study of male patients JO - Clinical genetics A1 - Arvio, Maria SP - 55 EP - 59 VL - 89 IS - 1 N2 - In 1994, a multi-professional team examined clinically 34 males with fragile X syndrome (FXS). Since then, these patients have been clinically evaluated twice at a 10-year interval. With the aid of the Portage method we were able to chart the course of their adaptive skills. The FXS males learned new abilities on average up to the age of 25; this was followed by a plateau stage until they reached 50, after which time, physical symptoms evidencing weakened overall motor skills were apparent. During follow-up, a total of 10 men died, 9 of them suddenly. Of these, three were under 40 at death, and the oldest was 77. The FXS men were socially interactive, helpful, but shy. Symptoms typical of FXS boys such as poor eye contact, tactile defensiveness, and perseverative speech did not disappear with age. At the end of the study, 75% of the study subjects had long-standing health problems. Most aged over 50 suffered from symptoms arising from an enlarged prostate; one-fourth were on psychotropic-, and one-fifth on antiepileptic drug treatment.

Language: en

LA - en SN - 0009-9163 UR - http://dx.doi.org/10.1111/cge.12639 ID - ref1 ER -