Psychosocial developmental milestones in men with classic galactosemia

Patients with classic galactosemia suffer from several long term effects of their disease. Research in a group of mainly female patients has shown that these patients may also have a developmental delay with regard to their social aptitude. To study if male galactosemia patients achieve psychosocial developmental milestones more slowly than male peers from the general Dutch population, we assessed their development with the Course of Life Questionnaire (CoLQ). A total of 18 male galactosemia patients participated in this study (response rate 69%): 11 Dutch patients and seven American patients. We found severe delays in the social and psychosexual scales of this questionnaire, but not on the autonomy axis. These results are comparable to an earlier study with a limited number of male patients. The observed delays could be secondary to less developed social skills, cognitive dysfunction, or disrupted language development. We strongly recommend screening of galactosemia patients for developmental delays, to ensure early intervention through social skills training

The impact of delayed development on the quality of life of adults with end-stage renal disease since childhood

Little is known about the impact of the course of life of children with end-stage renal disease (ESRD) on their quality of life in adulthood. We therefore assessed the course of life of adult patients with onset of ESRD at an age of <15 years between 1972 and 1992 and compared it with that of the general population. Furthermore, we explored how course of life is associated with quality of life (QoL) in young adulthood. A total of 75 young adult patients who had had ESRD since childhood, aged between 20 years and 30 years, completed the RAND-36 Health Survey and a questionnaire, which retrospectively assesses the achievement of development milestones. Patients achieved fewer milestones than peers with respect to autonomy, social, and psycho-sexual development, and displayed less risk behaviour. Patients who achieved fewer social milestones while growing up experienced more emotional problems and less vitality, and they had a lesser overall mental quality of life. Paediatric nephrologists should pay more attention to the development of social and independent functioning of children with ESRD in order to prepare them for active participation in society in adult life. © IPNA 2006