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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 TA B LE V. To p 3 0 In fo rm at io n al It em s in R an k O rd er R AN K PR EN AT AL G C PO ST N AT AL G C PR EN AT AL PA R EN T P O ST N AT AL P AR E N T IT EM R AT IN G IT EM R AT IN G IT EM R AT IN G IT E M R AT IN G 1 Va ri ab le ra n ge of in te lle ct ua l de la y 2 .9 8 2 Ea rl y in te rv en ti on ce n te rs 2 .9 8 7 Ea rl y in te rv en ti on ce n te rs 2 .9 7 0 E ar ly in te rv en ti on ce n te rs 2 .9 6 4 2 H ea rt de fe ct po ss ib ly re qu ir in g su rg er y 2 .9 6 1 D ev el op m en ta l de la y 2 .9 7 8 M or e lik e ot he r ch ild re n th an di ff er en t 2 .9 5 2 M or e lik e ot h er ch ild re n th an di ff er en t 2 .9 5 2 3 D ev el op m en ta l de la y 2 .9 4 0 D ia gn os is by ch ro m os om e an al ys is 2 .9 7 5 Lo ca l su pp or t gr ou p( s) 2 .9 0 9 C on ta ct w it h fa m ili es ra is in g a ch ild w it h D S 2 .9 1 2 4 D ia gn os is by ch ro m os om e an al ys is 2 .9 3 7 Lo ca l su pp or t gr ou p( s) 2 .9 7 0 Co n ta ct w it h fa m ili es ra is in g a ch ild w it h D S 2 .9 0 9 Lo ca l su pp or t gr ou p( s) 2 .8 9 1 5 Lo ca l su pp or t gr ou p( s) 2 .8 8 7 N ee d fo r ea rl y in te rv en ti on an d ca se m an ag em en t 2 .9 5 7 N ee d fo r ea rl y in te rv en ti on an d ca se m an ag em en t 2 .9 0 2 H av e fr ie n ds 2 .8 9 0 6 Ca us ed by ex tr a m at er ia l fr om ch ro m os om e 2 1 2 .8 6 6 Va ri ab le ra n ge of in te lle ct ua l de la y 2 .9 5 2 H av e fr ie n ds 2 .8 7 3 N ee d fo r ea rl y in te rv en ti on an d ca se m an ag em en t 2 .8 5 5 7 N ee d fo r ea rl y in te rv en ti on an d ca se m an ag em en t 2 .8 5 8 N ee d fo r ph ys ic al th er ap y 2 .9 1 3 H ea rt de fe ct po ss ib ly re qu ir in g su rg er y 2 .8 3 1 P ri n te d/ w ri tt en m at er ia l 2 .8 4 6 8 Pr in te d/ w ri tt en m at er ia l 2 .8 5 2 N ee d fo r sp ee ch an d la n gu ag e th er ap y 2 .9 0 9 Pr in te d/ w ri tt en m at er ia l 2 .8 2 3 H ea rt de fe ct po ss ib ly re qu ir in g su rg er y 2 .8 2 2 9 O n e or m or e co n ge n it al ab n or m al it ie s 2 .8 4 2 Ca us ed by ex tr a m at er ia l fr om ch ro m os om e 2 1 2 .8 9 9 N ee d fo r sp ee ch an d la n gu ag e th er ap y 2 .8 2 1 Ad vo ca cy or ga n iz at io n s an d w eb si te s 2 .8 1 9 1 0 Ad vo ca cy or ga n iz at io n s an d w eb si te s 2 .7 7 0 N ee d fo r oc cu pa ti on al th er ap y 2 .8 9 2 N ee d fo r oc cu pa ti on al th er ap y 2 .8 1 1 Fa ct sh ee ts /b ro ch u re s 2 .7 9 7 1 1 R ep ro du ct iv e op ti on s 2 .7 6 2 H ea rt de fe ct po ss ib ly re qu ir in g su rg er y 2 .8 8 8 N ee d fo r ph ys ic al th er ap y 2 .8 0 0 D ia gn os is by ch ro m os om e an al y si s 2 .7 7 5 1 2 Fa ct sh ee ts /b ro ch ur es 2 .7 4 7 Ad vo ca cy or ga n iz at io n s an d w eb si te s 2 .8 7 0 Ad vo ca cy or ga n iz at io n s an d w eb si te s 2 .7 8 7 N ee d fo r sp ee ch an d la n gu ag e th er ap y 2 .7 6 8 1 3 Sp ec ia l ed uc at io n cl as ses 2 .7 3 0 Co n ta ct w it h fa m ili es ra is in g a ch ild w it h D S 2 .8 6 2 In cl us io n in re gu la r cl as se s 2 .7 8 3 In cl u si on in re gu la r cl as se s 2 .7 6 1 1 4 H av e fr ie n ds 2 .7 2 8 Pr in te d/ w ri tt en m at er ia l 2 .8 5 8 Co m pl et e hi gh sc ho ol 2 .7 8 3 P ar ti ci pa te in co m m u n it y sp or ts an d ac ti vi ti es 2 .7 5 9 1 5 Li fe ex pe ct an cy 2 .7 0 6 M or e lik e ot he r ch ild re n th an di ff er en t 2 .8 4 3 Pa rt ic ip at e in co m m un it y sp or ts an d ac ti vi ti es 2 .7 5 9 N ee d fo r ph y si ca l th er ap y 2 .7 4 6 1 6 Ea rl y in te rv en ti on ce n te rs 2 .7 0 3 Sp ec ia lis t re fe rr al (s ) 2 .8 1 0 D ev el op m en ta l de la y 2 .7 5 2 C om pl et e h ig h sc h oo l 2 .7 4 2 1 7 M or e lik e ot he r ch ild re n th an di ff er en t 2 .6 7 8 Th yr oi d di so rd er s 2 .7 6 4 D ia gn os is by ch ro m os om e an al ys is 2 .7 4 4 D ev el op m en ta l de la y 2 .7 3 9 1 8 N ee d fo r sp ee ch an d la n gu ag e th er ap y 2 .6 6 7 H av e fr ie n ds 2 .7 5 9 B oo ks 2 .7 4 2 N ee d fo r oc cu pa ti on al th er ap y 2 .7 3 7 1 9 N ee d fo r ph ys ic al th er ap y 2 .6 6 1 H yp ot on ia 2 .7 5 6 Fa ct sh ee ts /b ro ch ur es 2 .7 2 2 B oo ks 2 .7 3 7 TA B LE (C on ti n u ed ) SHEETS ET AL. 1253 2 0 N ee d fo r oc cu pa ti on al th er ap y 2 .6 5 4 Fa ct sh ee ts /b ro ch ur es 2 .7 5 0 Em pl oy ed co m pe ti ti ve ly 2 .6 8 7 Va ri ab le ra n ge of in te lle ct u al de la y 2 .7 1 6 2 1 In cl us io n in re gu la r cl as se s 2 .6 5 3 R ec ur re n ce ri sk fo r fu tu re pr eg n an ci es 2 .7 4 7 Li ve in de pe n de n tl y 2 .6 8 3 C au se d by ex tr a m at er ia l fr om ch ro m os om e 2 1 2 .7 1 0 2 2 R ec ur re n ce ri sk fo r fu tu re pr eg n an ci es 2 .6 3 6 O n e or m or e co n ge n it al ab n or m al it ie s 2 .7 3 2 Va ri ab le ra n ge of in te lle ct ua l de la y 2 .6 7 9 E m p lo y ed co m p et it iv el y 2 .6 8 9 2 3 Co n ta ct w it h fa m ili es ra is in g a ch ild w it h D S 2 .6 0 5 Sp ec ia l ed uc at io n cl as se s 2 .7 2 8 Sp ec ia lis t re fe rr al (s ) 2 .6 7 9 Li ve in d ep en d en tl y 2 .6 8 0 2 4 Li ve in gr ou p ho m e 2 .5 8 2 B oo ks 2 .6 7 1 Ca us ed by ex tr a m at er ia l fr om ch ro m os om e 2 1 2 .6 5 9 Sp ec ia lis t re fe rr al (s ) 2 .6 7 5 2 5 Ad op ti on 2 .5 4 3 In cl us io n in re gu la r cl as se s 2 .6 7 0 At te n d co lle ge or po st -s ec on da ry ed uc at io n 2 .6 2 0 Im p ac t on ot h er si b lin gs — m or e co m p as si on at e an d ca ri n g 2 .6 2 0 2 6 Pa rt ic ip at e in co m m un it y sp or ts an d ac ti vi ti es 2 .5 2 4 Pa rt ic ip at e in co m m un it y sp or ts an d ac ti vi ti es 2 .6 3 8 Pa rt ic ip at e in sp ec ia l O ly m pi cs an d th er ap eu ti c re cr ea ti on 2 .6 1 2 P ar ti ci p at e in sp ec ia l O ly m p ic s an d th er ap eu ti c re cr ea ti on 2 .5 9 4 2 7 B oo ks 2 .5 2 1 H ea ri n g lo ss 2 .6 3 5 Im pa ct on ot he r si bl in gs — m or e co m pa ss io n at e an d ca ri n g 2 .5 8 8 H y po to n ia 2 .5 8 3 2 8 Co m pl et e hi gh sc ho ol 2 .4 6 9 Vi si on pr ob le m s 2 .6 3 1 Li fe ex pe ct an cy 2 .5 7 9 At te n d co lle ge or p os t- se co n d ar y ed u ca ti on 2 .5 6 5 2 9 H yp ot on ia 2 .4 6 5 G as tr oi n te st in al de fe ct po ss ib ly re qu ir in g su rg er y 2 .6 0 6 H yp ot on ia 2 .5 7 0 Sp ec ia l ed u ca ti on cl as se s 2 .5 6 3 3 0 G as tr oi n te st in al de fe ct po ss ib ly re qu ir in g su rg er y 2 .4 5 4 O bs tr uc ti ve sl ee p ap n ea 2 .5 7 8 Sp ec ia l ed uc at io n cl as se s 2 .5 6 7 Li fe ex p ec ta n cy 2 .5 4 4 It em s in bo ld ty pe w er e pr es en t am on g th e 3 0 hi gh es t ra te d it em s fo r al l gr ou ps . A fu ll ra n k or de r lis t fo r al l it em s is av ai la bl e in Su pp le m en t II. TA B LE V. (C on ti n ue d ) PR EN AT AL G C PO ST N AT AL G C PR EN AT AL PA R EN T P O ST N AT AL P AR E N T R AN K IT EM R AT IN G IT EM R AT IN G IT EM R AT IN G IT E M R AT IN G 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. 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