Mucopolysaccharidosis type III Beyond the biomedical issues

Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is an autosomal recessive lysosomal storage disorder characterized by a progressive neurocognitive deterioration from the age of 2-4 years, ultimately leading to motor retardation, loss of the ability to speak and dementia. Severe behavior problems (e.g., hyperactivity, recklessness) and sleeping problems (e.g., reversal of normal sleep pattern) are common in children with MPS III. Children usually demise around the age of 20. Although promising treatments are under investigation, a disease modifying treatment is currently still lacking. This thesis comprises a number of studies aiming to increase our knowledge on the impact of MPS III on families. The first part focuses on parental psychosocial functioning and the effectiveness of a psychosocial treatment for parents. The second part focuses on the perspectives of families compared to the general public towards the offer of preconception expanded carrier screening (ECS), and furthermore reports the effect of an educational video (vs. text) on genetic knowledge and attitudes towards ECS in the general public.