Psychosocial Functioning in Parents of MPS III Patients

  • Thirsa Conijn
  • Stephanie C. M. Nijmeijer
  • Hedy A. van Oers
  • Frits A. WijburgEmail author
  • Lotte Haverman
Research Report
Part of the JIMD Reports book series (JIMD, volume 44)


Background: Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a lysosomal storage disease resulting in progressive neurocognitive decline during childhood and early demise. Its diagnosis may have a great impact on parents, potentially leading to psychosocial problems such as anxiety, depression, parental distress, and posttraumatic stress.

Methods: Twenty-six mothers and 19 fathers of 34 Dutch MPS III patients completed the “Hospital Anxiety and Depression Scale” (HADS), the “Distress Thermometer for Parents” (DT-P), and the “Self-Rating Scale for Posttraumatic Stress Disorders” (SRS-PTSD). Independent-sample T-tests and chi-square tests were used to assess differences between parents of MPS III patients and reference groups regarding anxiety and depression (HADS), distress (DT-P), and posttraumatic stress (SRS-PTSD).

Results: Mothers met the criteria for clinically relevant anxiety (50%) and depression (34.6%) more frequently compared to reference mothers (p = 0.001). Fathers more often met the criteria for clinically relevant depression (36.8%) compared to reference fathers (p = 0.022). Clinically relevant distress was highly prevalent in mothers (84.6%) and fathers (68.4%) of MPS III patients compared to reference parents (p < 0.01). Finally, the prevalence of PTSD was strikingly higher in both mothers (26.9%) and fathers (15%) than reported in the general Dutch population (respectively, p < 0.001 and p < 0.05).

Conclusions: We report a clinically relevant impact of parenting an MPS III patient on psychosocial functioning, which is demonstrated by high levels of anxiety, depression, distress, and a remarkably high prevalence of PTSD. Structural monitoring of the psychosocial functioning of MPS III parents is therefore essential and may be beneficial for the whole family.


Anxiety Depression MPS III Parental distress Posttraumatic stress symptoms Psychosocial functioning 



We would like to thank the parents who participated in this study and the Zabawas Foundation, the Zeldzame Ziekten Foundation, and Foundation Kinderen en Kansen for their financial support. Also, we thank Ad Vingerhoets for providing the HADS reference group.


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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Thirsa Conijn
    • 1
  • Stephanie C. M. Nijmeijer
    • 1
  • Hedy A. van Oers
    • 2
  • Frits A. Wijburg
    • 1
    Email author
  • Lotte Haverman
    • 2
  1. 1.Department of Pediatric Metabolic DiseasesEmma Children’s Hospital and Lysosome Center ‘Sphinx’, Academic Medical Center, University of AmsterdamAmsterdamThe Netherlands
  2. 2.Psychosocial DepartmentEmma Children’s Hospital, Academic Medical CenterAmsterdamThe Netherlands

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