Psychosocial Functioning in Parents of MPS III Patients

Conijn, Thirsa; Nijmeijer, Stephanie C. M.; Oers, Hedy A. van; Wijburg, Frits A.; Haverman, Lotte

doi:10.1007/8904_2018_119

Cited by 27 publications

(56 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These positive outcomes are comparable to the effect of EMDR in adults with PTSD related to personal traumatic events (35). The size and persistence of the effects at follow up in our study are remarkable, especially in the context of the progressive and grim course of the disease in patients with the common phenotype of MPS III, generally causing ongoing daily stress for the whole family (4,16). Most people who are treated with EMDR are trying to cope with traumatic symptoms resulting from past events, delineated in time, in which there is a post trauma safety situation whereas parents of progressively ill children will experience multiple traumas during the course of the disease, and may even more suffer from threats of expected future medical crises and an early death.…”

Section: Discussionsupporting

confidence: 72%

“…Earlier studies showed that IEMs have a highly negative impact on the psychosocial functioning of parents (4)(5)(6)(7), and that parents of children with IEMs report a lower health related quality of life compared to parents of other chronically ill children including paediatric cancer (8). This may be explained by the fact that parents of children with IEMs often have to deal with a continuous process of loss due to the progressive nature of the disease, facing an uncertain future with a realistic fear to lose their child often after a long diagnostic odyssey (15,16). Moreover, parents frequently face potential traumatic medical events ( e.g.…”

Section: Page 3/14mentioning

confidence: 99%

“…a restricted period of intense treatment or an acute hospital admission). We have recently assessed post-traumatic stress symptoms in parents of mucopolysaccharidosis type III (MPS III, San lippo syndrome) patients (16), a rare lysosomal storage disorder (birth prevalence of approximately 1:40.000) characterized by a developmental delay from the age of 2-4 years often followed by severe behavioural problems and progressive mental deterioration ultimately leading to severe dementia and premature death (17). Results indicated a remarkably high prevalence of PTSD (22%, compared to 3.8% in the general Dutch population (18)) in parents of MPS III patients, necessitating effective trauma treatment (16).…”

Section: Page 3/14mentioning

confidence: 99%

See 2 more Smart Citations

Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

Conijn

Haverman

Wijburg

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

Background Parents of children with severe inborn errors of metabolism (IEMs) frequently face stressful events related to the disease of their child and are consequently at high risk for developing parental posttraumatic stress disorder (PTSD). Assessment and treatment of posttraumatic stress disorder (PTSD) in these parents is however not yet common in clinical practice. PTSD can be effectively treated by Eye Movement Desensitization and Reprocessing (EMDR), mostly offered in multiple weekly sessions which may preclude participation as parents are generally overburdened by the ongoing and intensive care for their child. We offered time-limited EMDR therapy with a maximum of four sessions over two subsequent days to two parents (from different families) of mucopolysaccharidosis type III (MPS III) patients to explore the potential effect of this approach in reducing post-traumatic stress symptoms and comorbid psychological distress. Methods Both qualitative and quantitative outcomes were used. The case conceptualisation, EMDR sessions and the effects reported by parents are described. The change in the severity of post-traumatic stress symptoms and comorbid psychological distress were evaluated with the Reliable Change Index (RCI). Results All traumatic memories and catastrophic fears of the future reported by parents were successfully processed and neutralized. Parents felt more competent to face future difficulties related to the disease of their child, and no adverse effects were reported. Quantitative outcomes showed a clinically significant decrease in post-traumatic stress symptoms and comorbid psychological distress from pre- to post treatment, and these beneficial effects were maintained at follow-up. Conclusion Time-limited EMDR might be a successful treatment for traumatized parents of children with mucopolysaccharidosis type III, and we suggest that this approach may have a wider application including parents of children with other severe IEMs. More awareness in clinical practice of the need for assessment and treatment of PTSD in parents of children with IEMs is essential to improve the psychosocial wellbeing of both parent and child.

show abstract

Section: Discussionsupporting

confidence: 72%

Section: Page 3/14mentioning

confidence: 99%

Section: Page 3/14mentioning

confidence: 99%

See 1 more Smart Citation

Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

Conijn

Haverman

Wijburg

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…This study has some limitations. First, this study included parents and relatives of MPS III patients and research showed that parenting a MPS III child has great impact on the well-being of parents [ 25 , 33 , 34 ]. The impact of some of the other disorders included in ECS panels may be less severe which may have resulted in an overestimation of the potential uptake of ECS by affected families by our study.…”

Section: Discussionmentioning

confidence: 99%

“…MPS III (Sanfilippo disease) is an example of a disorder generally included in ECS panels, as it is characterized by progressive neurodegeneration resulting in cognitive decline, behavioral problems, loss of motor functions and early demise [ 24 ]. Parenting a child with MPS III strongly impacts the well-being of parents, resulting in anxiety, depression and post-traumatic stress symptoms [ 25 ]. We hypothesized that genetic and experiential knowledge on the nature of a disorder generally included in universal preconception screening panels and its potential impact on the patient and the family leads to a more positive attitude toward ECS.…”

Section: Introductionmentioning

confidence: 99%

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

et al. 2020

Self Cite

View full text Add to dashboard Cite

Preconception expanded carrier screening (ECS) aims to detect carrier couples of autosomal recessive (AR) disorders before pregnancy in order to increase reproductive autonomy of prospective parents. Genetic knowledge and knowledge gained from experience influence decision making on participation in genetic testing and understanding carrier test results. In this study we assessed whether parents and relatives of patients with the severe AR condition mucopolysaccharidosis type III (MPS III), who are expected to have genetic and experiential knowledge, have more positive attitudes toward ECS than the Dutch reference group. Parents of all MPS III patients known to the Dutch expert center were invited to participate and asked to invite first and second degree relatives. The online questionnaire started with an educational text, and assessed attitudes toward ECS, genetic knowledge and perceived MPS III severity. Results were compared with the Dutch population. Parents and relatives of MPS III patients ( n = 159) scored higher on the genetic knowledge test and perceived MPS III as more severe compared with the general Dutch population ( n = 781). Parents and relatives reported to be more likely to participate in ECS (84.3% and 62.5%, respectively) compared with the public (31%) ( p < 0.001). Being a relative of a MPS III patient was the strongest variable in the regression analyses for intended ECS participation. Our results show that genetic knowledge influences ECS decision making. Therefore, appropriate information on ECS and genetic counseling is needed to enable prospective parents from the general population, including relatives of patients with severe hereditary disorders, to make informed decisions.

show abstract

Parenting a child with Marfan syndrome: Distress and everyday problems

Warnink‐Kavelaars

Oers

Haverman

et al. 2020

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

Marfan syndrome (MFS) is a multisystemic, autosomal dominant connective tissue disorder that occurs de novo in 25%. In many families, parent and child(ren) are affected, which may increase distress in parents. To assess distress, 42 mothers (29% MFS) and 25 fathers (60% MFS) of 43 affected children, completed the validated screening‐questionnaire Distress thermometer for parents of a chronically ill child, including questions on overall distress (score 0–10; ≥4 denoting “clinical distress”) and everyday problems (score 0–36). Data were compared to 1,134 control‐group‐parents of healthy children. Mothers reported significantly less overall distress (2, 1–4 vs. 3, 1–6; p = .049; r = −.07) and total everyday problems (3, 0–6 vs. 4, 1–8; p = .03; r = −.08) compared to control‐group‐mothers. Mothers without MFS reported significantly less overall distress compared to mothers with MFS, both of a child with MFS (1, 0–4 vs. 3.5, 2–5; p = .039; r = −.17). No significant differences were found between the father‐groups, nor between the group of healthy parents of an affected child living together with an affected partner compared to control‐group‐parents. No differences in percentages of clinical distress were reported between mothers and control‐group‐mothers (33 vs. 42%); fathers and control‐group‐fathers (28 vs. 32%); nor between the other groups. Distress was not associated with the children's MFS characteristics. Concluding, parents of a child with MFS did not show more clinical distress compared to parents of healthy children. However, clinical distress was reported in approximately one‐third and may increase in case of acute medical complications. We advise monitoring distress in parents of a child with MFS to provide targeted support.

show abstract

Psychosocial Functioning in Parents of MPS III Patients

Cited by 27 publications

References 25 publications

Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

Parenting a child with Marfan syndrome: Distress and everyday problems

Contact Info

Product

Resources

About