Parents and Genetic Counselors Define Essential Information about Down syndrome

By Kathryn B. Sheets, M.S., University of South Carolina

In 2008, 993 parents from the National Down Syndrome Congress (NDSC) and National Down Syndrome Society (NDSS), and 388 genetic counselors from the National Society of Genetic Counselors (NSGC) completed an online survey to define essential information for a complete and balanced description of Down syndrome. The study also aimed to distinguish differences in the informational needs of parents and the professional roles of genetic counselors between prenatal and postnatal settings. The results are summarized here.

Each genetic counseling session should be tailored to the unique needs of each counselee. Naturally, the information and extent of detail in each counseling session depends on the counselee who is receiving the information. However, recent standards of practice call for a more balanced representation, including presenting positive aspects of having DS. Consideration is warranted for the routine provision of information about the condition, and whether the conversation should be the same for prenatal and postnatal diagnoses.

As part of the online survey, parents and genetic counselors rated 100 informational features about DS as Essential, Important, or Not Too Important for the initial discussion of a diagnosis of DS. Genetic counselors rated these items twice, creating prenatal and postnatal groups, depending on the setting in which they work. Parent responses were separated into prenatal and postnatal groups based on the timing of their child’s diagnosis.

Study results identified 34 essential informational items for the initial discussion of a diagnosis of DS (see table below). Twenty-two of these items were among the highest ranked items for all groups. Medical professionals should incorporate these items in their initial discussion of a diagnosis of DS, in both prenatal and postnatal settings.

Although the majority of each group rated 34 items as essential, there were statistical differences between group ratings. Significant differences between genetic counselors likely represent variations in professional roles between prenatal and postnatal settings. Prenatal genetic counselors appear to strive to provide a range of possible outcomes in order to illustrate what life might be like for individuals with DS and their families. Postnatal genetic counselors are more likely to address parents’ immediate concerns about their child’s health.

Based on the results of this study, parents and genetic counselors appear to appreciate the importance of similar information when discussing a new diagnosis of DS. Yet, these groups appear to emphasize the importance of items differently. It is unclear how these differences affect the provision of information about DS in practice. However, it could be assumed that disparities result in parent needs not being met and are a possible cause of parental dissatisfaction with both the information provided and the experience of receiving their child’s diagnosis.

Interestingly, prenatal and postnatal parent ratings were statistically the same for 98/100 items. In other words, the informational needs of the parents surveyed were the same, regardless of whether they received a prenatal or postnatal diagnosis of DS for their child.

Finally, two informational resources, printed/written material and factsheets/brochures were highly rated by all groups with no statistical differences. Parents and genetic counselors alike appreciate the importance of these informational resources, which should always be provided when a new diagnosis of DS is given.

Essential Information about Down syndrome for Routine Provision

Caused by extra genetic material from chromosome 21*

Diagnosis confirmed by chromosome analysis*

Recurrence risk for future pregnancies

Hypotonia (80%)*

One or more congenital abnormalities (50%)

Heart defect possibly requiring open heart surgery (40-60%)*

Gastrointestinal defect possibly requiring surgery (12%)

Variable range of mental retardation from mild to moderate*

Developmental delay in achieving milestones*

Need for physical therapy*

Need for occupational therapy*

Need for speech and language therapy*

Need for early intervention and case management*

Participate in community sports, activities, and leagues*

Inclusion in regular classes*

Special education classes*

Complete high school

Employed competitively

Employed in workshop setting

Live independently

Live in group home

Have friends*

Have intimate relationships

Life Expectancy (age range of 50s-60s)

More like other children than different*

More time commitment

Local support group(s)*

Advocacy organizations and websites*

Early Intervention centers*

Printed or written material*

Fact sheets or brochures*

Books*

Contact with families raising a child with Down syndrome*

Specialist referral(s)

Note: These 34 items are rated essential by all group majorities. The 22 items with a * are among the highest rated items for all groups. The two items in bold type showed no statistical difference for any group.

In conclusion, medical professionals should be cognizant of information that parents value and evaluate the emphasis placed on clinical details that may be less helpful to parents. A better understanding of parents’ informational needs will enable medical professionals to better meet parents’ needs, improve parent satisfaction and facilitate adaptation to a new diagnosis of DS. These results are currently unpublished and were part of a more comprehensive study, which also identified examples of positive aspects of DS for routine provision, and provided more detail regarding the informational needs of parents receiving a new diagnosis of DS for their child.

Editor’s note: Robert G. Best, Ph.D., FACMG – University of South Carolina; Campbell K. Brasington, MS, CGC – Carolinas Medical Center; and Madeleine C. Will, MA – National Down Syndrome Society, were co-authors of Sheets’ research.