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Balanced Information About Down Syndrome What is essential

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RESEARCH ARTICLE
Balanced Information About Down Syndrome:
What Is Essential?
Kathryn B. Sheets,1* Robert G. Best,2 Campbell K. Brasington,3 and Madeleine C. Will4
1Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina
2Division of Clinical Genetics, University of South Carolina, Columbia, South Carolina
3Department of Clinical Genetics, Carolinas Medical Center, Charlotte, North Carolina
4National Down Syndrome Society, Washington, District of Columbia
Received 24 September 2010; Accepted 7 March 2011
The purpose of this study was to explore the perspectives of
genetic counselors and parents of children withDown syndrome
to define essential information for the initial discussion of a new
diagnosis. We compared information given in both prenatal and
postnatal settings, and also aimed to distinguish differences
between the informational needs of parents and the information
genetic counselors provide. Online surveys were distributed to
members of the National Down Syndrome Congress, National
Down Syndrome Society, and National Society of Genetic Coun-
selors. Participants included 993 parents of children with Down
syndrome and 389 genetic counselors. Participants rated 100
informational features about Down syndrome as Essential, Im-
portant, orNotToo Important for inclusion in thefirst discussion
of the diagnosis. Responses identified 34 essential informational
items for the initial discussion of Down syndrome, including
clinical features, developmental abilities, a range of prognosti-
cations, and informational resources. Healthcare providers
should consider incorporating these items in their initial discus-
sion of a diagnosis in both prenatal and postnatal settings.
Statistically significant differences between parent and genetic
counselor responses illustrate that information is valued differ-
ently and that parents appreciate information about the abilities
and potential of people with Down syndrome, as opposed to
clinical details. Balancing clinical informationwithother aspects
of the condition, as well as a better understanding of the
information parents consider most important, may enable
healthcare professionals to more effectively satisfy families’
informational needs following a new diagnosis of Down syn-
drome. � 2011 Wiley-Liss, Inc.
Key words: Down syndrome; trisomy 21; balanced information;
genetic counseling
INTRODUCTION
Down syndrome is the most common chromosome aneuploidy in
newborns and the most common genetic cause of intellectual
disability. The combination of physical features attributable to the
trisomic chromosome 21 varies considerably among individuals
with Down syndrome. The spectrum of potential medical
complications and variable expression presents a challenge for
clinicians in deciding which features are most important to discuss
with new and prospective parents [Bryant et al., 2001; Williams
et al., 2002; Weil and Hodgson, 2007].
A diagnosis of Down syndrome is often unexpected and
surprising [Shur et al., 2006], and parents may initially experience
a range of emotions, such as profound shock, guilt, and grief
[Matheny and Vernick, 1969; Pueschel and Murphy, 1975;
Gilmore and Oates, 1977; Cooley, 1993; Skotko, 2005a]. The first
information parents receive and the manner in which they are told
affects adaptation to thediagnosis and subsequentdecision-making
[Pueschel andMurphy, 1976; Pulman, 1979; Powell, 1991; Cooley,
1993; Stein et al., 1997; Taanila, 2002; Dent and Carey, 2006].
Existing literature focuses on how parents prefer to be told of a
diagnosis of Down syndrome and what types of information they
should receive. Recommendations suggest that parents be told
together, privately by a knowledgeable clinician, with the baby
present, in a caring and straightforward manner, with balanced
information and resources provided [Gilmore and Oates, 1977;
Cunningham et al., 1984; Powell, 1991; Cooley, 1993; Krahn et al.,
Additional supporting information may be found in the online version of
this article.
*Correspondence to:
Kathryn B. Sheets, Division of Medical Genetics, Duke University Medical
Center, 595 LaSalle Street, GSRB1, Box 103857, Durham, NC 27710.
E-mail: katie.sheets@duke.edu
Published online 5 May 2011 in Wiley Online Library
(wileyonlinelibrary.com).
DOI 10.1002/ajmg.a.34018
How to Cite this Article:
Sheets KB, Best RG, Brasington CK,Will MC.
2011. Balanced information about Down
syndrome: What is essential?
Am J Med Genet Part A 155:1246–1257.
� 2011 Wiley-Liss, Inc. 1246
1993; Helm et al., 1998; Skotko and Bedia, 2005; Skotko, 2005a,b,c;
Dent and Carey, 2006; Skotko et al., 2009a,b].
Current and up-to-date information should be provided
regarding physical features, delays, management, a range of
outcomes, and contact information for support services
[Gayton and Walker, 1974; Pueschel and Murphy, 1976; Gilmore
and Oates, 1977; Pulman, 1979; Zorzi et al., 1980; Quine and
Pahl, 1987; Taanila, 2002; Hodgson and Spriggs, 2005; Prenatally
and Postnatally Diagnosed Conditions Awareness Act of 2008,
2008]. Yet, the informational content and future expectations
of individuals with Down syndrome differ among clinicians
[Wolraich and Siperstein, 1986; Wolraich et al., 1987; Marteau
et al., 1994; Allard et al., 2008] and also between settings. Prenatal
information tends to be predominantly ‘‘negative,’’ focusing on
potential medical complications, whereas postnatal information
is more ‘‘positive,’’ stressing hope for the future [Lippman and
Wilfond, 1992].
While a balanced perspective is recommended [Cunningham
et al., 1984; Powell, 1991; Cooley, 1993; Skotko, 2005b], few studies
address what constitutes ‘‘balanced information’’ [Loeben et al.,
1998; Bryant et al., 2001; Williams et al., 2002]. Negative informa-
tion refers to clinical complications and antagonistic aspects of the
condition, while positive information addresses treatment, abilities
to participate in life activities, management of complications,
and improved life expectancy [Loeben et al., 1998]. However,
there is neither consensus nor a proposed standard for what
details comprise a balanced description. Consideration is therefore
warranted for the routine provision of information about Down
syndrome, in both the prenatal and postnatal settings.
Genetic counseling can be an integral component of the diag-
nostic process, with goals to promote understanding of genetic
conditions, informed decision-making and adjustment to the
diagnosis with emotional support [Hodgson and Spriggs, 2005].
Because genetic counselors are trained to communicate sensitive
and emotionally charged information, we decided to focus this
study on their perspectives; however, amulti-disciplinary approach
will be required for best practices in sharing a new diagnosis of
Down syndrome.
Unlike previous studies that evaluate types of information about
Down syndrome, our study surveyed parents of children with
Down syndrome and genetic counselors on specific aspects of the
diagnosis. As opposed to medical complications in general, we
asked specifically about tendency for obesity, heart defects,
increased risk for childhood leukemia, etc. We explored the per-
spectives of genetic counselors and parents to establish a general
consensus on essential information for the initial discussion of a
diagnosis. We compared perspectives on the information given in
both prenatal and postnatal settings, and aimed to distinguish
differences between the informational needs of parents and the
information genetic counselors provide.
MATERIALS AND METHODS
Participants
This study received IRB approval from the University of South
Carolina.Invitations to participate in the online survey were
distributed to genetic counselors and parents through the National
Society of Genetic Counselors (NSGC), National Down Syndrome
Congress (NDSC), and National Down Syndrome Society (NDSS)
email listservs and websites. Participants were encouraged to share
the survey with members of their respective group; therefore,
precise response rates are not straightforward.
Measure
Our survey consisted of 100 features of Down syndrome based
on the many aspects of genetic counseling: occurrence, recurrence,
inheritance, testing, management, prevention, and available
resources [NSGC, 2005]. Sub-sections of our survey included the
genetics of the condition, diagnostic criteria and physical features,
associated medical complications, intellectual disability and devel-
opmental delay, long-term prognostications, impact on the family,
and informational resources and referrals [Pueschel, 1990; Howlin
et al., 1995;Noble, 1998; Cohen, 1999; Kent et al., 1999; Jones, 2006;
Nussbaum et al., 2007; OMIM, 2009]. According to recommen-
dations for balanced information [Loeben et al., 1998; Bryant et al.,
2001], our survey balanced positive, negative, and neutral state-
ments regarding social, educational, and developmental as well
as clinical aspects. This list was developed in collaboration
with prenatal and pediatric genetic counselors (DMC, CKB) and
reviewed by a parent of an adult with Down syndrome (MCW).
Participants rated each informational item as Essential, Impor-
tant but not essential, orNot too important for the initial discussion
of a diagnosis of Down syndrome. Genetic counselors could rate
this section twice—once for prospective parents receiving a prena-
tal diagnosis of Down syndrome for their unborn child, and again
for parents receiving a postnatal diagnosis of Down syndrome for
their newborn child.
The survey included basic demographic questions. Parents were
asked to share information regarding the experience of receiving
their child’s diagnosis: timing of the diagnosis, participation in
genetic counseling, how informed theywere aboutDown syndrome
at the time of the diagnosis, and overall satisfaction with the
experience of receiving their child’s diagnosis.
Data Analysis
Data analysis was performed using Statistical Analysis System (SAS)
software,Version9.2of theSASsystemforWindows,Copyright�2008
SAS Institute, Inc. (Cary, NC), and Microsoft Office Excel 2007,
Copyright �2007 Microsoft Corporation (Redmond, WA). Genetic
counselor responseswere separated intoaprenatal andpostnatal group
because they rated the information in separate prenatal and postnatal
sections. Parent responses were stratified into a prenatal or postnatal
group based on the timing of their child’s diagnosis.
Average ratings for each informational itemwere calculated using
a Likert scale: Essential¼ 3; Important but not essential¼ 2; Not too
important¼ 1; Unsure¼ 0. Essential items were identified as items
receiving the majority of Essential ratings by all groups. Average
ratings were assembled in rank order to determine the highest rated
items for each group of participants. Fisher’s exact test identified
statistically significant differences between prenatal and postnatal
parent responses and for multiple comparisons between parent and
genetic counselor responses. The test of marginal homogeneity was
SHEETS ET AL. 1247
used to determine statistical differences in genetic counselor
responses as they were generated from one dependent sample.
RESULTS
Genetic Counselor Participants
Of the 389 genetic counselors who started the online survey, 254
completed all sections. One participant identified herself as a
student and was excluded. The majority of genetic counselors were
female, in their 20s or 30s, and Caucasian (Table I). Most had less
than 10 years of experience, worked in a hospital (40.3%) or
academic setting (37.6%), providing prenatal genetic counseling
(38.8%). Most genetic counselors report having some exposure to
individualswithDown syndromeduring graduate training (78.9%)
and 58.5% have exposure to individuals with Down syndrome in
current practice. Over half have social and/or family contact with
individuals with Down syndrome (55.0%).
Parent Participants and Information About Their
Child’s Diagnosis
Of the 993 parents who started the online survey, 687 completed all
sections. The majority of parents were female, Caucasian, married,
and had more than a high school education (Table II). Parents
represented all but one of the 50 U.S. states. The majority of
parents were members of a Down syndrome advocacy group
(77.3%) and most memberships were initiated within the last
decade (74.3%).
The majority of parents received their child’s diagnosis
postnatally (78.7%) and within the last decade (64.5%)
(Table III). In most cases, parents were informed of their child’s
diagnosis by a pediatrician (34.9%) or an obstetrician-gynecologist
(25.9%). A genetic counselor delivered the initial diagnosis only
7.6% of the time. Many parents received pediatric genetic counsel-
ing (46.3%), while 35.3%of parents received no genetic counseling.
More than half of parents (56.8%) felt they were not sufficiently
informed about Down syndrome at the time of the diagnosis, and
50.5%were somewhat or extremely dissatisfied with the experience
of receiving their child’s diagnosis.
Essential Information About Down Syndrome
Following a New Diagnosis
Parent and genetic counselor responses identified 34 essential
informational items for the initial discussion of a diagnosis of
Down syndrome (Table IV, Supplement I). Informational items
were placed in rank order by average rating, with higher average
ratings considered more essential. Table V (Supplement II) shows
that 22 items were present among the highest rated items for all
groups, demonstrating further consensus between parents and
genetic counselors as to what information is essential. A summary
of essential topics is presented in Table VI.
TABLE I. Genetic Counselor Demographic Information
Total, n % Total, n %
Gender (N¼ 260) Employment setting (N¼ 258)
Female 253 97.3 Public hospital 104 40.3
Male 7 2.7 University or academic setting 97 37.6
Age (N¼ 257) Private hospital or practice 23 8.9
20–29 years 95 37.0 Federal, state, or county facility 7 2.8
30–39 years 98 38.1 HMO 5 1.9
40–49 years 41 16.0 Laboratory 5 1.9
50–59 years 23 9.0 Other 17 6.6
Race (N¼ 259) Specialty area (N¼ 258)
White/Caucasian 238 91.9 Prenatal 100 38.8
Black/African American 3 1.2 Multiple specialties 41 15.9
Asian 8 3.1 Pediatrics 35 13.6
Hispanic/Latino 6 2.3 Cancer 21 8.1
Other 4 1.5 Specialty 21 8.1
Years employed (N¼ 260) Research 12 4.7
0–10 years 181 69.6 Laboratory 7 2.7
11–20 years 42 16.2 Public health 5 1.9
21–30 years 33 12.7 Other 8 3.1
>30 years 4 1.5 Not currently practicing 7 2.7
Exposure to DS in training (N¼ 260) Exposure to DS in practice (N¼ 260)
None 55 21.2 None 108 41.5
At least some contact 205 78.9 At least some contact 152 58.5
Exposure to DS outside professional context (N¼ 260)
No other contact 117 45.0
Social and/or family contact 143 55.0
1248 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Although some informational items were similarly rated as
essential and appeared high in the rank order lists for each group,
there were significant differences between the groups’ ratings
(Supplement III). Prenatal and postnatal genetic counselor ratings
were statistically different for 70 of the total 100 informational
items. Prenatal genetic counselor ratingswere significantly different
from prenatal parents for 87 items, and different from postnatal
parents for 90 items. Postnatal genetic counselor ratingswere
significantly different from prenatal parents for 70 of the 100 items,
and postnatal parents for 73 items. Interestingly, ratings between
the prenatal and postnatal parent groups were statistically the same
for 98 of the 100 items. Two informational resources were highly
rated with no statistically significant differences between groups:
printed material (overall rating of 2.845), and fact sheets or
brochures (overall rating of 2.754).
DISCUSSION
Genetic counselors and parents identified 34 essential informa-
tional items for the initial conversation of a diagnosis of
Down syndrome, in both prenatal and postnatal settings.
These items included features from each subsection of topics
regarding the genetics of the condition, physical features,
associated medical complications, intellectual disability and
TABLE II. Parent Demographic Information
Total, n % Total, n %
Gender (N¼ 717) Marital status (N¼ 718)
Female 652 90.9 Not married 66 9.2
Male 65 9.1 Married 651 90.8
Race (N¼ 715) Advocacy group membership (N¼ 989)
Black/African American 11 1.5 Yes 764 77.3
White/Caucasian 659 92.2 No 225 22.8
Asian 9 1.3 Year membership initiated (N¼ 536)
American Indian 1 0.1 1970–1979 8 1.5
Hispanic/Latino 28 3.9 1980–1989 31 5.8
Other 7 1.0 1990–1999 99 18.5
Highest education (N¼ 718) 2000–2008 398 74.3
<High school graduate 6 0.8
High school graduate—4 years of college 501 69.8
Other professional degree 211 29.4
TABLE III. Information About the Diagnosis
Total, n % Total, n %
Year of diagnosis (N¼ 989) Prenatal testing (N¼ 989)
1950–1969 5 0.5 None 283 28.6
1970–1989 107 10.8 Screening testa 518 52.4
1990–1999 239 24.2 Diagnostic testb 188 19.0
2000–present 638 64.5 Participation in genetic counseling (N¼ 989)
Timing of diagnosis (N¼ 989) None 349 35.3
Postnatal diagnosis 778 78.7 Prenatal only 128 12.9
Prenatal diagnosis 211 21.3 Pediatric only 458 46.3
Informer (N¼ 966) Both prenatal and pediatric 54 5.5
Pediatrician 337 34.9 How informed were you about DS at the time of diagnosis? (N¼ 989)
Ob-Gyn 250 25.9 Not very informed 562 56.8
Geneticist 70 7.3 Somewhat informed 316 32.0
Prenatal GC 44 4.6 Very well informed 111 11.2
Pediatric GC 29 3.0 Satisfaction with experience of receiving diagnosis (N¼ 989)
Nurse or midwife 57 5.9 Somewhat or extremely dissatisfied 499 50.5
Neonatologist 88 9.1 Somewhat or extremely satisfied 359 36.3
MFM specialist 35 3.6 Unsure 131 13.3
Family physician 18 1.9
Other 38 3.9
aIncludes combined screening, NT measurement, maternal serum screening, AFP only screening, ultrasound.
bIncludes chorionic villus sampling (CVS) and amniocentesis.
SHEETS ET AL. 1249
TABLE IV. Essential Information About Down Syndrome for the Initial Conversation of a New Diagnosis
Essential informational items Group % Essential
Total
responses
Average
ratinga
Rank
orderb
GENETIC INFORMATION ABOUT DOWN SYNDROME
*Caused by extra genetic material Prenatal GC 88.2 380 2.866 6
from chromosome 21 Postnatal GC 91.6 237 2.899 9
Prenatal parent 72.0 164 2.659 24
Postnatal parent 76.5 548 2.710 21
*Diagnosis confirmed by Prenatal GC 95.3 382 2.937 4
chromosome analysis Postnatal GC 97.5 238 2.975 3
Prenatal parent 79.3 164 2.744 17
Postnatal parent 80.4 546 2.775 11
Recurrence risk for future Prenatal GC 67.8 382 2.636 22
pregnancies Postnatal GC 78.1 237 2.747 21
Prenatal parent 54.9 164 2.378 39
Postnatal parent 50.7 546 2.324 43
PHYSICAL FEATURES
*Hypotonia (80%) Prenatal GC 54.6 381 2.465 29
Postnatal GC 80.3 234 2.756 19
Prenatal parent 62.4 165 2.570 29
Postnatal parent 66.1 542 2.583 27
ASSOCIATED MEDICAL COMPLICATIONS
One or more congenital Prenatal GC 86.1 380 2.842 9
abnormalities (50%) Postnatal GC 78.8 233 2.732 22
Prenatal parent 53.6 166 2.386 38
Postnatal parent 61.4 542 2.504 32
*Heart defect possibly requiring Prenatal GC 96.3 380 2.961 2
open heart surgery (40–60%) Postnatal GC 91.8 229 2.888 11
Prenatal parent 83.7 166 2.831 7
Postnatal parent 85.9 546 2.822 8
Gastrointestinal defect possibly Prenatal GC 57.3 379 2.454 30
requiring surgery (12%) Postnatal GC 69.7 230 2.606 29
Prenatal parent 53.1 162 2.395 35
Postnatal parent 56.7 545 2.407 35
INTELLECTUAL DISABILITY AND DEVELOPMENTAL DELAY
*Variable range of intellectual Prenatal GC 98.4 381 2.982 1
disability from mild to moderate Postnatal GC 95.2 231 2.952 6
Prenatal parent 75.8 165 2.679 22
Postnatal parent 77.8 545 2.716 20
*Developmental delay in Prenatal GC 94.5 381 2.940 3
achieving milestones Postnatal GC 97.8 232 2.978 2
Prenatal parent 75.8 165 2.752 16
Postnatal parent 77.8 544 2.739 17
*Need for physical therapy Prenatal GC 69.0 381 2.661 19
Postnatal GC 92.6 231 2.913 7
Prenatal parent 83.0 165 2.800 11
Postnatal parent 79.6 543 2.746 15
*Need for occupational therapy Prenatal GC 68.5 381 2.654 20
Postnatal GC 91.0 232 2.892 10
Prenatal Parent 83.5 164 2.811 10
Postnatal Parent 78.9 544 2.737 18
*Need for speech and Prenatal GC 69.6 381 2.667 18
language therapy Postnatal GC 92.2 231 2.909 8
Prenatal parent 85.6 162 2.821 9
Postnatal parent 80.9 544 2.768 12
TABLE (Continued)
1250 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
*Need for early intervention Prenatal GC 86.4 381 2.858 7
and case management Postnatal GC 96.1 231 2.957 5
Prenatal parent 91.4 163 2.902 5
Postnatal parent 88.4 543 2.855 6
LONG-TERM PROGNOSIS
*Participate in community sports, Prenatal GC 58.2 380 2.524 26
activities, and leagues Postnatal GC 69.4 232 2.638 26
Prenatal parent 78.9 166 2.759 15
Postnatal parent 81.2 547 2.759 14
*Inclusion in regular classes Prenatal GC 71.2 378 2.653 21
Postnatal GC 71.7 230 2.670 25
Prenatal parent 84.3 166 2.783 13
Postnatal parent 81.8 545 2.761 13
*Special education classes Prenatal GC 76.6 381 2.730 13
Postnatal GC 76.7 232 2.728 23
Prenatal parent 66.5 164 2.567 30
Postnatal parent 66.4 544 2.563 29
Complete high school Prenatal GC 57.8 377 2.469 28
Postnatal GC 56.3 231 2.455 36
Prenatal parent 83.7 166 2.783 14
Postnatal parent 80.6 546 2.742 16
Employed competitively Prenatal GC 41.5 376 2.168 42
Postnatal GC 44.3 228 2.167 52
Prenatal parent 74.9 163 2.687 20
Postnatal parent 77.3 546 2.689 22
Employed in workshop setting Prenatal GC 48.7 376 2.340 34
Postnatal GC 49.8 229 2.380 41
Prenatal parent 55.8 163 2.362 43
Postnatal parent 56.7 545 2.385 37
Live independently Prenatal GC 56.4 376 2.418 32
Postnatal GC 54.2 229 2.380 42
Prenatal parent 73.2 164 2.683 21
Postnatal parent 73.7 547 2.680 23
Live in group home Prenatal GC 64.8 378 2.582 24
Postnatal GC 59.6 230 2.526 32
Prenatal parent 54.9 164 2.396 34
Postnatal parent 56.0 546 2.401 36
*Have friends Prenatal GC 78.3 378 2.728 14
Postnatal GC 78.9 232 2.759 18
Prenatal parent 90.9 165 2.873 6
Postnatal parent 91.6 546 2.890 5
Have intimate relationships Prenatal GC 43.5 377 2.218 39
Postnatal GC 47.6 231 2.286 46
Prenatal parent 65.0 163 2.540 31
Postnatal parent 68.0 546 2.542 31
Life expectancy in the 50s–60s Prenatal GC 76.7 377 2.706 15
Postnatal GC 64.8 230 2.561 31
Prenatal parent 67.7 164 2.579 28
Postnatal parent 65.8 544 2.544 30
*More like other children Prenatal GC 77.9 376 2.678 17
than different Postnatal GC 87.8 230 2.843 15
Prenatal parent 96.4 165 2.952 2
Postnatal parent 96.3 543 2.952 2
TABLE IV. (Continued)
Essential informational items Group % Essential
Total
responses
Average
ratinga
Rank
orderb
TABLE (Continued)
SHEETS ET AL. 1251
developmental delay, long-term prognostications, impact on
the family, and informational resources and referrals. However,
the majority of essential items were related to prognosis and
informational resources. The provision of printed material was
equally important to all participants and is a well-supported
recommendation [Gilmore and Oates, 1977; Helmet al., 1998;
Kelly et al., 1998; Skotko and Bedia, 2005; Skotko, 2005a,b,c;
Prenatally and Postnatally Diagnosed Conditions Awareness Act
of 2008, 2008].
Information Differs Between Genetic Counseling
Settings
Significant differences between prenatal and postnatal genetic
counselor responses signify that genetic counselors emphasize or
value information differently depending on whether the diagnosis
is made prenatally or postnatally. Prenatal information tends to
include more clinical information and negative aspects of the
diagnosis: intellectual disability, heart defect, and developmental
IMPACT ON THE FAMILY
More time commitment Prenatal GC 44.9 370 2.222 38
Postnatal GC 48.0 227 2.304 43
Prenatal parent 52.5 160 2.275 50
Postnatal parent 53.8 535 2.308 50
INFORMATIONAL RESOURCES AND REFERRALS
*Local support group(s) Prenatal GC 89.7 380 2.887 5
Postnatal GC 97.0 232 2.970 4
Prenatal parent 90.9 164 2.909 3
Postnatal parent 89.8 549 2.891 4
*Advocacy organizations Prenatal GC 79.9 378 2.770 10
and websites Postnatal GC 87.9 231 2.870 12
Prenatal parent 79.9 164 2.787 12
Postnatal parent 83.4 547 2.819 9
*Early intervention centers Prenatal GC 76.1 380 2.703 16
Postnatal GC 99.1 232 2.987 1
Prenatal parent 96.7 164 2.970 1
Postnatal parent 96.9 548 2.964 1
*Printed or written material Prenatal GC 86.5 379 2.852 8
Postnatal GC 87.5 232 2.858 14
Prenatal parent 82.9 164 2.823 8
Postnatal parent 86.3 547 2.846 7
*Fact sheets or brochures Prenatal GC 77.4 376 2.747 12
Postnatal GC 78.9 232 2.750 20
Prenatal parent 74.1 162 2.722 19
Postnatal parent 82.1 546 2.797 10
*Books Prenatal GC 55.3 376 2.521 27
Postnatal GC 70.1 231 2.671 24
Prenatal parent 77.9 163 2.742 18
Postnatal parent 77.0 544 2.737 19
*Contact with families raising Prenatal GC 64.2 380 2.605 23
a child with Down syndrome Postnatal GC 87.1 232 2.862 13
Prenatal parent 91.5 164 2.909 4
Postnatal parent 92.0 547 2.912 3
Specialist referral(s) Prenatal GC 57.8 377 2.435 31
Postnatal GC 84.9 231 2.810 16
Prenatal parent 77.2 162 2.679 23
Postnatal parent 75.9 544 2.675 24
These 34 items were rated essential by all group majorities. The 22 items with a * were present among the highest rated items for all groups. The two items in bold type were equally important
among all groups. A full list of informational items and rating is available in Supplement I.
aRespondents were asked to rate how essential each item is in a balanced description of Down syndrome, with essential¼ 3, important but not essential¼ 2, not too important¼ 1,
and unsure¼ 0.
bItems were placed in rank order from 1st to 100th by average rating. A rank order of 1 indicates the highest ranked item for the respective group of respondents.
TABLE IV. (Continued)
Essential informational items Group % Essential
Total
responses
Average
ratinga
Rank
orderb
1252 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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m
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(s
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us
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by
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op
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2
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In
cl
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in
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as
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s
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At
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or
po
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p
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IN
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1254 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
delay were ranked highest. In contrast, postnatal information
focused on treatment and management to promote resiliency and
adaptation to the diagnosis. While developmental delay is ranked
second, early intervention is ranked first, and appears more in line
with parent perspectives. The postnatal information demonstrates
more of a balance between positive and negative information, by
not only acknowledging a complication, but also providing a
supportive approach to managing it.
Genetic counseling literature supports these separate roles:
promotion of autonomy in reproductive decisions prenatally, as
opposed to facilitating understanding and mastery through man-
agement and anticipatory guidance postnatally [Biesecker, 2001].
We found that reproductive options, group home living arrange-
ments, adoption, life expectancy and completion of high school
were exclusively ranked highly in the prenatal list. On the other
hand, thyroid disorders, hearing loss, vision problems, obstructive
sleep apnea, and specialist referrals were valuableitems limited to
the postnatal list. Perhaps the distinguishing factors involved in
decision-making explain the differences between the prenatal and
postnatal setting.
Differences Between Parents and Genetic
Counselors
Our data demonstrated that postnatal genetic counseling
information was more in line with parents’ informational needs.
It is unclear how the differences between parent and genetic
counselor responses affect the provision of information about
Down syndrome in practice, especially since genetic counselors
provided the diagnosis less than 10%of the time.Onemight assume
that even greater disparities exist between the perspectives of
parents and other medical professionals who are not trained in
communication skills and nondirectiveness. Such disparities could
explain parental dissatisfaction with the information provided
and the overall experience of receiving their child’s diagnosis of
Down syndrome.
A finding of particular interest was the difference in importance
placedonthediscussionof reproductiveoptions followingadiagnosis
of Down syndrome. In this study, ‘‘reproductive options’’ refers to
options for pregnancy management—to continue or terminate a
pregnancy—and is applicable to current and future pregnancies in
either setting. This item was ranked 11th for prenatal genetic
counselors, compared to 65th for postnatal genetic counselors,
and 96th and 92nd for prenatal and postnatal parents, respectively.
A similar trend is seen with adoption as well.
It is not surprising that prenatal genetic counselors focusmost on
available options for management of current and future pregnan-
cies. Even though discussing reproductive options is standard of
care, it was not essential for the initial information given about the
diagnosis. Reproductive information should be discussed only after
a thorough and accurate dialogue of Down syndrome has
transpired, since reproductive decisions are based on prior infor-
mation, perceptions, and values concerning disability [Hodgson
and Spriggs, 2005; Weil and Hodgson, 2007]. Ultimately, this
finding demonstrates the need for planned follow-up to address
parents’ and couples’ evolving informational needs [McConkie-
Rosell and O’Daniel, 2007].
Parents’ Informational Needs
While genetic counselor responses and literature support some-
what separate prenatal andpostnatal roles, parent perspectiveswere
virtually the same, regardless of whether their child’s diagnosis of
Down syndrome was made before or after birth. Identifying the
information that ismost important to the counselee [Marteau et al.,
1994; Michie et al., 1997] allows for the provision of appropriate
information. In addition to the 34 essential items, parents especially
value information that demonstrates the abilities and potentials of
TABLE VI. Essential Information About Down Syndrome
*Caused by extra genetic material from chromosome 21 Employed competitively
*Diagnosis confirmed by chromosome analysis Employed in workshop setting
Recurrence risk for future pregnancies Live independently
*Hypotonia (80%) Live in group home
One or more congenital abnormalities (50%) *Have friends
*Heart defect possibly requiring surgery (40-60%) Have intimate relationships
Gastrointestinal defect possibly requiring surgery (12%) Life Expectancy in the 50s–60s
*Variable range of intellectual disability from mild to moderate *More like other children than different
*Developmental delay in achieving milestones More time commitment
*Need for physical therapy *Local support group(s)
*Need for occupational therapy *Advocacy organizations and websites
*Need for speech and language therapy *Early Intervention centers
*Need for early intervention and case management *Printed or written material
*Participate in community sports, activities, and leagues *Fact sheets or brochures
*Inclusion in regular classes *Books
*Special education classes *Contact with families raising a child with Down syndrome
Complete high school Specialist referral(s)
These 34 items were rated essential by all group majorities. * Indicates the 22 items present among the highest rated items for all groups. The two items in bold type were equally important
among all groups.
SHEETS ET AL. 1255
people with Down syndrome, such as competitive employment,
independent living, academic achievements, participation in
Special Olympics, and a positive impact on siblings. These items
support claims that parents desire information that illustrates what
life is like for a child with Down syndrome [Michie et al., 1997;
Moyer et al., 1999; Parens andAsch, 2000; Patterson and Satz, 2002;
Williams et al., 2002; Hodgson and Spriggs, 2005], including
positive examples of outcomes for individuals with Down syn-
drome [Pueschel andMurphy, 1975; Skotko, 2005a,b,c; Skotko and
Bedia, 2005].
CONCLUSION
The 34 essential items identified in this study represent a general
consensus for what information to include in the initial discussion
of a diagnosis of Down syndrome. Medical professionals should
discuss how Down syndrome occurs and is diagnosed, medical
complications that require immediate intervention, prognosis
regarding intellectual abilities and available therapies, as well as a
range of potential outcomes. Parents should receive up-to-date
informational resources, referrals to necessary specialists, as well
as contact information for support groups and other families
raising a child with Down syndrome. Parents especially appreciate
information that illustrates what life is like for people with Down
syndrome.
These items were identified by parents and genetic counselors as
essential topics to cover in the initial discussion of both prenatal
and postnatal diagnoses of Down syndrome. This list of features
should not be used as a simple checklist, nor should diagnostic
conversations be limited to these topics. Genetic counselors and
other healthcare professionals should evaluate parents’ needs and
determine what information is most appropriate to communicate.
A balanced perspective as well as a better understanding of
the information parents consider most important should enable
medical professionals to more effectively satisfy the informational
needs of families, andultimately, facilitate resiliency andadaptation
to a diagnosis of Down syndrome.
LIMITATIONS AND FUTURE INVESTIGATION
Conclusions of the study are limited by nonrandom, voluntary
sampling of national organizational groups, whose members may
have different perspectives than nonmembers. Participants were
largely educated Caucasian females; therefore, results may not be
generalized to other populations. Our study was not designed to
explore relationships between demographic elements and the
importance placed on informational items. It would be interesting
to understand how personal experience with individuals with
Down syndrome and other disabilities influences the information
healthcare professionals provide about them.
Retrospective parental responses may have introduced recall
bias. However, many diagnoses were made during the last decade,
and previous reports claim that parents can clearly remember the
details of their experience [Quine andPahl, 1987;Helmet al., 1998].
The perspectives of parents who terminated pregnancies or
created adoption plans for children with Down syndrome were
clearly absent from this study. There remains a significant need
to investigate these perspectives as well as further describe the
prenatal diagnosis of and information provided about Down
syndrome.
Moreover, the perspectives of other healthcare professionals,
such as obstetricians, pediatricians, and medical geneticists among
others, are required to establish multidisciplinary consensus forstandardized care surrounding a newdiagnosis ofDown syndrome.
Our study focused on informational content for the initial
discussion of the diagnosis; how the discussion and parents’
informational needs change over the lifetime of the child should
be explored. Prospective studies are needed to examine the
provision of information in a randomized and controlled design,
with consideration for cultural diversity.
ACKNOWLEDGMENTS
Wewould like to acknowledge AllynMcConkie-Rosell, PhD, CGC,
Janice Edwards, MS, CGC, Richard Ferrante, PhD, and Daragh M.
Conrad,MS, CGC for their contributions to thismanuscript and to
the study design. We would also like to thank NDSS, NDSC, and
NSGC for distributing our survey, and their members for their
participation and thoughtful responses.
REFERENCES
Allard MA, McIntosh N, Brasington CK, Ramey VL, Lombardo A. 2008.
Discussing Down syndrome in a prenatal setting: The genetic counseling
approach [M.S. Thesis]. Waltham, MA: Brandeis University.
Biesecker BB. 2001. Goals of genetic counseling. Clin Genet 60:323–330.
Bryant LD, Murray J, Green JM, Hewison J, Sehmi I, Ellis A. 2001.
Descriptive information about Down syndrome: A content analysis of
serum screening leaflets. Prenat Diagn 21:1057–1063.
Cohen WI. 1999. Health care guidelines for individuals with Down
syndrome-1999 revision (Down syndrome preventive medical check
list). Down Syndr Q 4:1–16.
Cooley WC. 1993. Supporting the family of the newborn with Down
syndrome. Compr Ther 19:111–115.
CunninghamCC,Morgan PA,McGucken RB. 1984. Down’s syndrome: Is
dissatisfaction with disclosure of diagnosis inevitable? Dev Med Child
Neurol 26:33–39.
Dent KM, Carey JC. 2006. Breaking difficult news in a newborn setting:
Down syndrome as a paradigm. Am J Med Genet Part C 142C:173–179.
GaytonWF,Walker L. 1974.Down syndrome: Informing the parents. Am J
Dis Child 127:510–512.
Gilmore GW, Oates RK. 1977. Counselling about Down’s syndrome: The
parents’ viewpoint. Med J Aust 2:600–603.
Helm DT, Miranda S, Chedd NA. 1998. Prenatal diagnosis of Down
syndrome: Mothers’ reflections on supports needed from diagnosis to
birth. Ment Retard 36:55–61.
Hodgson J, SpriggsM. 2005.Apractical account of autonomy:Why genetic
counseling is especially well suited to the facilitation of informed
autonomous decision making. J Genet Couns 14:89–97.
Howlin P, Wing L, Gould J. 1995. The recognition of autism in children
with Down syndrome: Implications for intervention and some specula-
tion about pathology. Dev Med Child Neurol 37:406–413.
Jones KL. 2006. Smith’s recognizable patterns of humanmalformation, 6th
edition. Philadelphia: Elsevier, Inc.
1256 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
KellyMA, JohnsonP, ShaulM,Beall S,Carey JC. 1998.The communication
of difficult news to parents: A protocol based on parent preference.
J Invest Med 46:100A.
Kent L, Evans J, Paul M, Sharp M. 1999. Comorbidity of autistic spectrum
disorders in children with Down syndrome. Dev Med Child Neurol
41:153–158.
KrahnGL,HallumA,KimeC. 1993.Are there goodways to give ‘badnews’?
Pediatrics 91:578–582.
Lippman AL, Wilfond BS. 1992. Twice-told tales: Stories about genetic
disorders. Am J Hum Genet 51:936–937.
LoebenGL,Marteau TM,Wilfond BS. 1998.Mixedmessages: Presentation
of information in cystic fibrosis–screening pamphlets. Am J HumGenet
63:1181–1189.
MarteauT,DrakeH,BobrowM. 1994.Counselling followingdiagnosis of a
fetal abnormality: The differing approaches of obstetricians, clinical
geneticists, and genetic nurses. J Med Genet 31:864–867.
Matheny AP, Vernick J. 1969. Parents of the mentally retarded child:
Emotionally overwhelmed or informationally deprived? J Pediatr 74:
953–959.
McConkie-Rosell A, O’Daniel J. 2007. Beyond the diagnosis: The
process of genetic counseling. In: Mazzocco MM, Ross JL, editors.
Neurogenetic developmental disorders: Variation of manifestation in
childhood. Cambridge: The MIT Press. pp 367–389.
Michie S, McDonald V, Marteau T. 1997. Genetic counseling Information
given recall and satisfaction. Patient Educ Couns 32:101–106.
Moyer A, Brown MA, Gates E, Daniels M, Brown HD, Kuppermann M.
1999. Decisions about prenatal testing for chromosomal disorders:
Perceptions of a diverse group of pregnant women. J Womens Health
Gend Based Med 8:521–5531.
National Society of Genetic Counselors (NSGC), 2005. http://nsgc.org/.
Noble J. 1998.Natural history ofDown’s syndrome:Abrief review for those
involved in antenatal screening. J Med Screen 5:172–177.
Nussbaum RL, McInnes RR, Willard HF. 2007. Thompson & Thompson
genetics in medicine, 7th edition. Philadelphia: Elsevier, Inc.
Online Mendelian Inheritance in Man (OMIM�), 2009. http://www.
ncbi.nlm.nih.gov/omim/.
Parens E, Asch A. 2000. The disability rights critique of prenatal genetic
testing: Reflections and recommendations. In: Parens E, Asch A, editors.
Prenatal testing and disability rights. Washington, D.C.: Georgetown
University Press. pp 3–43.
Patterson A, Satz M. 2002. Genetic counseling and the disabled Feminism
examines the stance of those who stand at the gate. Hypatia 17:118–142.
Powell N. 1991. Your baby hasDown’s syndrome. Nurs Times 87:60–6061.
Prenatally and Postnatally Diagnosed Conditions Awareness Act of 2008.
2008. Public Law 110-374, 122 Stat. 4051.
Pueschel SM. 1990. Clinical aspects of Down syndrome from infancy to
adulthood. Am J Med Genet Suppl 7:52–56.
Pueschel S, Murphy A. 1975. Counseling parents of infants with Down’s
syndrome. Postgrad Med 58:90–95.
Pueschel SM, Murphy A. 1976. Assessment of counseling practices
at the birth of a child with Down’s syndrome. Am J Ment Defic 81:
325–330.
Pulman RM. 1979. Parents’ perception of counseling about Down’s
syndrome: An interim report. N Z Nurs Forum 7:7–9.
QuineL, Pahl J. 1987. First diagnosis of severe handicap: A studyof parental
reactions. Dev Med Child Neurol 29:232–242.
Shur N,Marion R, Gross SJ. 2006. A surprising postnatal diagnosis. Obstet
Gynecol 108:189–195.
Skotko B. 2005a.Mothers of children withDown syndrome reflect on their
postnatal support. Pediatrics 115:64–77.
Skotko BG. 2005b. Communicating the postnatal diagnosis of Down’s
syndrome: An international call for change. Ital J Pediatr 31:237–243.
Skotko BG. 2005c. Prenatally diagnosed Down syndrome: Mothers who
continued their pregnancies evaluate their health care providers. Am J
Obstet Gynecol 192:670–677.
Skotko B, Bedia RC. 2005. Postnatal support for mothers of children with
Down syndrome. Ment Retard 43:196–212.
Skotko BG, Capone GT, Kishnani PS, for the Down Syndrome
Diagnosis Study Group. 2009a. Postnatal diagnosis of Down syndrome:
Synthesis of the evidence on how to best deliver the news. Pediatrics
124:e751–e758.
Skotko BG, Kishnani PS, Capone GT, for the Down Syndrome Diagnosis
StudyGroup. 2009b. Prenatal diagnosis of Down syndrome:How best to
deliver the news. Am J Med Genet Part A 149A:2361–2367.
Stein MT, Scioscia A, Jones KL, Cohen WI, Glass CK, Glass RF. 1997.
Responding to parental concerns after a prenatal diagnosis of trisomy 21.
J Dev Behav Pediatr 18:42–46.
Taanila A. 2002.Well-presented first information supports parents’ ability
to cope with a chronically ill or disabled child. Acta Paediatr 91:
1289–1291.
Weil J, Hodgson J. 2007. Talking about disability in prenatal genetic
counseling sessions: Identifying tensions anddeveloping strategies. From
NSGC 26th Annual Education Conference Breakout Session.
Williams C, Alderson P, Farsides B. 2002. What constitutes balanced
information in the practitioners’ portrayals of Down’s syndrome? Mid-
wifery 18:230–237.
Wolraich WL, Siperstein GN. 1986. Physicians’ and other professionals’
expectations andprognoses formentally retarded individuals. AmJMent
Defic 91:244–249.
Wolraich WL, Siperstein GN, O’Keefe P. 1987. Pediatricians’ perceptionsof mentally retarded individuals. Pediatrics 80:643–649.
Zorzi G, Thurman SK, KistenmacherML. 1980. Importance and adequacy
of genetic counseling information: Impressions of parents with Down’s
syndrome children. Ment Retard 18:255–275.
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