Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

Abstract

Background The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaining genetic test results is varies. The demand to learn the diagnosis of a possible untreatable illness involves a struggle between uncertainty and a lifetime chronic disease. The current uncertainty of their child's condition and the long wait for a diagnosis may increase the parents' anxiety level and cause difficulties in the continuation of diagnostic procedures in some families. This study aimed to investigate the prediagnosis and postdiagnosis anxiety levels of parents who have a child with a rare genetic disease. Method The parents in this study, mothers or fathers, admitted their children to the Bezmialem Vakıf University Medical Genetics Clinic due to a suspected rare genetic disease (n = 40). Researchers created “The Sociodemographic Questionnaire” and used it to analyze the parents' sociodemographic status. In addition, they used the State-Trait Anxiety Inventory (STAI) to determine the anxiety levels of the parents. Results The state anxiety levels of parents decreased significantly after learning the diagnosis. However, there was no statistically significant decrease observed in trait anxiety levels. Conclusion Data from this study revealed that informing parents about their child's disease and properly explaining to them the expected difficulties might help to reduce their anxiety levels. Psychological support for parents is necessary to reduce their long-term stress, thus increasing the patient's compliance with treatment.

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study

“…Another possibility is that parents may invest greater hope in the potential life-changing outcomes of these types of genetic tests and, therefore, experience disheartenment when these expectations are not realised [ 36 , 37 ]. Taken together, and in line with recent work highlighting the grief-like emotions that parents report after their child’s diagnosis of a rare genetic condition and the important role for emotional support after testing [ 38 ], insights from our study make clear the importance of providing care that is adaptable to individual psychological needs.…”

Multidimensional Family-Centred Early Intervention in Children with Hearing Loss: A Conceptual Model

“…Resource needs connected with the child’s HL, particularly challenges regarding employability [ 46 , 62 , 63 , 64 , 65 , 66 ], are another stressor on families.…”

“…The increased need for care and the complex parental burden lead to limited social contacts of the family and reduced family interaction and, finally, reduced quality of life for parents, highlighting the need for family-adjusted support and navigation. Parents, especially mothers of children with complex medical needs, are more likely to suffer from depression and anxiety-related illnesses [ 182 ], and parental distress was shown to negatively impact on a child’s health [ 64 ]. For parents of developmentally disabled children, multiple behavioural and medical factors are associated with heightened parental stress [ 183 ].…”

Current Status of Research on Rare Diseases in Children in China

“…For the diagnosis of rare diseases, because of their incidence is extremely low and awareness is very limited, the high clinical misdiagnosis rate and very difficult to diagnose, which in turn to these patients are difficult to receive timely and effective treatment. And the impact of a wrong diagnosis on a child's parents the impact of an incorrect diagnosis on a parent of a child can be enormous [4]. A study was done on the quality of life of parents caring for children with rare diseases.…”