open access: Development and preliminary testing of the psychosocial adjustment to hereditary diseases scale (in Lynch Syndrome patients)

open access

BMC Psychology 2013, 1:7 doi:10.1186/2050-7283-1-7
Published: 30 April 2013 

"Three large pedigrees with MSH2 mutations on intron 5, exon 8 or exon 4 to 16 have been identified with 272 carriers and 295 non-carriers confirmed and entered into a Cancer Screening Data Base."

Background

The presence of Lynch syndrome (LS) can bring a lifetime of uncertainty to an entire family as members adjust to living with a high lifetime cancer risk. The research base on how individuals and families adjust to genetic-linked diseases following predictive genetic testing has increased our understanding of short-term impacts but gaps continue to exist in knowledge of important factors that facilitate or impede long-term adjustment. The failure of existing scales to detect psychosocial adjustment challenges in this population has led researchers to question the adequate sensitivity of these instruments. Furthermore, we have limited insight into the role of the family in promoting adjustment.

Methods

The purpose of this study was to develop and initially validate the Psychosocial Adjustment to Hereditary Diseases (PAHD) scale. This scale consists of two subscales, the Burden of Knowing (BK) and Family Connectedness (FC). Items for the two subscales were generated from a qualitative data base and tested in a sample of 243 participants from families with LS.

Results

The Multitrait/Multi-Item Analysis Program-Revised (MAP-R) was used to evaluate the psychometric properties of the PAHD. The findings support the convergent and discriminant validity of the subscales. Construct validity was confirmed by factor analysis and Cronbach's alpha supported a strong internal consistency for BK (0.83) and FC (0.84).

Conclusion

Preliminary testing suggests that the PAHD is a psychometrically sound scale capable of assessing psychosocial adjustment. We conclude that the PAHD may be a valuable monitoring tool to identify individuals and families who may require therapeutic interventions.

The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production. 

 " Although most individuals seemed well adjusted, a subgroup
had elevated distress levels, compromised family functioning and lower quality of life."

"In summary, emphasis on short-term outcomes, without thorough consideration of the social and familial contexts, can limit our understanding of long-term psychosocial adjustment. We argue that adjustment to hereditary cancer is broader than psychological outcomes and is an evolving process that ebbs and flows in response to changing personal and family experiences in the management of long-term cancer risk and emergence of cancer in the self and/or others. Personal and/or family experiences can facilitate or impede adjustment."

Limitations
While the initial validation results are promising, there are a number of limitations to consider. First the study was cross-sectional and thus it is not possible to evaluate the scale’s monitoring capabilities. Second, the use of mixed methods for data collection may have influenced the findings. Further, the responders were significantly older than non-responders thus potentially limiting our knowledge of the experiences of younger individuals. Finally, it is also possible that the higher proportion of non-carriers among the non-responders may
have altered the findings."