Original Article

Journal of Inherited Metabolic Disease

, Volume 34, Issue 2, pp 415-419

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Psychosocial developmental milestones in men with classic galactosemia

  • Cynthia Sophia GubbelsAffiliated withDepartment of Pediatrics, Maastricht University Medical Center Email author 
  • , Maurice-Stam Heleen Affiliated withPsychosocial Department, Emma Children’s Hospital, Academic Medical Center
  • , Gerard Thomas BerryAffiliated withDivision of Genetics, Children’s Hospital Boston, Harvard Medical School
  • , Annet Maria BoschAffiliated withDepartment of Pediatrics, Academic Medical Center
  • , Susan WaisbrenAffiliated withDivision of Genetics, Children’s Hospital Boston, Harvard Medical School
  • , Maria Estela Rubio-GozalboAffiliated withDepartment of Pediatrics and Genetic Metabolic Disease Laboratory, Maastricht University Medical Center
  • , Martha Alexandra GrootenhuisAffiliated withPsychosocial Department, Emma Children’s Hospital, Academic Medical Center

Abstract

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.