A R T I C L E

Down Syndrome Clinic in a Semi-Rural SettingCAROLYN MILLS LOVELL AND ROBERT A. SAUL*

We established a multidisciplinary clinic for Down syndrome patients and their families. Over a 20-monthperiod, we saw 49 patients for a total of 79 patient visits. We were able to address health care, psychosocial,educational, and financial issues for these individuals with a diverse team of professionals and parentadvocates. Some of these issues would probably not be identified during routine health care. The successof the clinic demonstrates the ability to establish such a venture in a semi-rural, nonacademic medicalcenter setting. Am. J. Med. Genet. (Semin. Med. Genet.) 89:91–95, 1999. Q1999 Wiley-Liss, Inc.

KEY WORDS: Down syndrome; multidisciplinary clinic; genetic services

INTRODUCTION

J. Langdon Down wrote in 1866 about“the possibility of making a classifica-tion of the feeble-minded, by arrangingthem around various ethnic standards—in other words, framing a natural systemto supplement the information to bederived by an inquiry into the history ofthe case” [Down, 1866]. Of course, hewas describing patients with mental re-tardation due to a chromosomal abnor-mality now identified with a syndromethat bears his name. Nearly 100 yearsafter his description, the chromosomeabnormality (trisomy 21) was finallydiscovered. As we enter the secondcentury (since Down’s report) of carefor individuals with Down syndrome,we note remarkable progress. The av-erage life expectancy has increased from9 to 55 years [Nadel and Rosenthal,1995]. Previously life-threatening com-plications, such as congenital heart dis-ease, gastrointestinal obstruction, or he-matological problems, can now usuallybe treated successfully. Fewer patientswith Down syndrome are institutional-

ized, since we have adopted more ag-gressive early intervention and school-based educational programs.

The special and unique health careneeds of persons with Down syndromeare now widely recognized and pro-moted in the literature and by advocacygroups [Pueschel, 1990; Pueschel andPueschel, 1992; Nadel and Rosenthal,1995]. Just as Down discussed “framinga natural system to supplement the in-formation to be derived by an inquiryinto the history of the case,” the Com-mittee on Genetics for the AmericanAcademy of Pediatrics has framedhealth supervision guidelines for chil-dren with Down syndrome [Commit-tee on Genetics, 1994]. We have fol-

lowed the lead of colleagues around thecountry and used those health supervi-sion guidelines to establish a specificclinic designated to see individuals withDown syndrome and attend to theirspecific health care, psychosocial, edu-cational, and future financial needs[Chicoine et al., 1994; Wilson et al.,1994; Chicoine et al., 1995; Spahis etal., 1996; Wilson et al., 1996]. This re-port describes our early work in thisprocess and some of the unique aspects

of such a multidisciplinary clinic in aprivate, nonacademic medical center,semi-rural setting.

CLINIC COMPONENTS

Clinic Development

The Down Syndrome Clinic began inMay of 1996 as a multidisciplinaryclinic to meet the health care needs ofindividuals with Down syndrome—infants, children, adolescents, andadults. The primary impetus for theclinic came from the center’s faculty.The clinic was not designed to replacethe role of the primary care physicianbut to serve as a resource for physiciansas well as families. The clinic providescomprehensive medical evaluation andpreventive medical screening, alongwith initial and follow-up developmen-tal assessments. Not all of the subspe-cialties necessary for referral of the vari-ous problems in Down syndrome arepresent in our community. Referral toother facilities to follow up identifiedproblems might be necessary. TheDown Syndrome Clinic is the onlycomprehensive clinic for individualswith Down syndrome in South Carolina.

Demographics

From the clinic’s inception in May1996 through December 1998 (a 20-month period), 49 patients were seenthrough the clinic for 79 visits. The av-erage age of the patients seen was 6.75years, the median age was 4 years, and

Carolyn Mills Lovell is a genetic counselorwho has also been a high school scienceteacher and is very interested in educa-tional activities for medical genetics.Robert A. Saul is a Senior Clinical Geneti-cist and Training Program Director of theGreenwood Genetic Center, Greenwood,South Carolina. He has a strong interestin educational and ethical issues in clini-cal genetics.

*Correspondence to: GreenwoodGenetic Center, 1 Gregor Mendel Circle,Greenwood, SC 29646.E-mail: rsaul@ggc.org

The average life expectancy(for a child with Downsyndrome) has increasedfrom 9 years to 55 years.

AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.) 89:91–95 (1999)

© 1999 Wiley-Liss, Inc.

the age range was 1 month old to 54years old. The age distribution is shownin Figure 1. Approximately 40% of thepatients served by the clinic were fromthe county in which Greenwood Ge-netic Center is located and the five sur-rounding counties. The other 60%came from all over South Carolina,with the greatest concentration being inthe northwestern one-third of the state.

Our center, the Greenwood GeneticCenter, is affiliated with a local hospitalserving a seven-county population ofover 230,000. The population of SouthCarolina is approximately 3.6 million.Using a Down syndrome estimatedprevalence of 1/1,000, we estimate thatwe have seen approximately 9% of theindividuals with Down syndrome inour immediate service area (20/230).

Down Syndrome ClinicTeam Members

The clinic staff was assembled with theneeds of individuals with Down syn-

drome in mind. The team compositionand their responsibilities are shown inTable I. Each team member, with theexception of those employed by Green-wood Genetic Center, is a volunteerand does not bill for services. The com-munity recognizes the unmet needs ofindividuals with Down syndrome, andthe team members willingly donatetheir time and expertise.

Scheduling

For each monthly clinic during the 20-month period, only four appointmentswere scheduled. This limited numberreflects both the individualized careeach patient receives as well as the lo-gistics of minimizing the amount ofvolunteer time spent by our staff. Eachstaff member, with the exception of themedical geneticist, spends approxi-mately three hours at the clinic eachmonth—two hours of direct patientcontact and one hour of writing chartnotes, dictating, and discussing patientswith the team. The medical geneticist ison site for the entire clinic, seeing pa-tients and fielding questions. Eachmember is generally allotted approxi-mately 30 minutes for his or her assess-ment. Adjustments are made as neces-sary. For instance, a family with a re-cently diagnosed infant might spend upto 90 minutes with the medical geneti-cist. Generally, a maximum of two newpatients per clinic are scheduled, withthe other patients being seen for follow-up.

Clinic Area

We are fortunate to have a location thatis conducive to a clinic such as this.There is a large reception area used onlyfor our clinic that day. This allows thefamilies an opportunity to speak withone another before the clinic. There isalso a kitchen area where parents andchildren can drink coffee and juice.Fruit and cookies are available to thefamilies and staff. We recognize this is along day for patients and their familiesand try to accommodate them as muchas possible. For the first 14 months ofthe clinic, we were housed at our localhealth department. Once escorted totheir rooms, patients and their familiesstayed there for the entire clinic. Whenwe moved to our present location,families and staff reported a more posi-tive clinic experience.

Appointments and Referrals

Appointments are made by calling theclinic coordinator directly. Informationconfirming the diagnosis as well as somepatient demographics is obtained at thattime. Referrals come from primary carephysician offices, hospital nurseries,Down syndrome clinic team members,self-referrals, and the local parent sup-port group. Typically, the referralsource gives the caregiver the clinic co-ordinator’s name and telephone num-ber, and the caregiver makes theappointment.

Figure 1. Age distribution for Down syn-drome clinic.

Using a Down syndromeestimated prevalence of

1/1000, we estimate thatwe have seen approximately9% of the Down syndrome

individuals in ourimmediate service area.

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Mailing to Parent Before Clinic

One month before the patient’s ap-pointment, the patient and the care-giver receive a packet of information inthe mail. This packet includes a nutri-tional history sheet, a speech therapyquestionnaire, a release for photogra-phy, consent to obtain records, patientdemographic sheet, and a map to theGreenwood Genetic Center. Ideally,this paperwork is completed and re-turned in the envelope provided beforethe visit. Many caregivers bring thecompleted paperwork on the day of thevisit.

Telephone Call to ParentBefore Clinic

Two weeks before the clinic appoint-ment, the clinic coordinator contactsthe caregiver by telephone, if possible.The goals of this call are to remind thecaregiver of the appointment, answerany lingering questions about the clinicor the appointment, obtain a completemedical and family history for new pa-tients and an interim history on estab-lished patients, and elicit caregiver con-cerns that need to be addressed duringclinic time. The clinic coordinatorspends close to two hours on the phone

for each patient. We have found thatthese telephone calls play a significantrole in clinic show rate. The no-showrate for our clinic is minimal; typicallyonly emergency situations prevent at-tendance. After all telephone calls aremade, a summary of the medical historyand caregiver concerns are generatedand forwarded to the team membersapproximately one week before theclinic.

The Day of the Clinic

Patients report to the clinic at approxi-mately 8:00 a.m. Once signed in, their

TABLE I. Down Syndrome Clinic Team Members and Their Responsibilities

Team members Clinic-related responsibilities

Medical geneticist Review medical historyPhysical examinationReview recommendations from other team membersFollow age-appropriate recommendations set forth in AAP guidelines for health supervision of

individuals with Down syndromeReview and sign final dictation (usually the last team member to see family)

Genetic counselor All clerical duties (appointments, telephone interviews, clinic schedule, etc.)(Clinic coordinator) Genetic counseling for families (verbal and written)

Comprehensive case management with referral to medical specialists, early intervention, specialeducation services, and/or support organizations as necessary (usually the first team memberto see family)

Psychologist and social worker Assessment of family psychosocial needs(two individuals) Assessment of whether educational needs of the individual are being met

Recommendations for home behavior modification programs as neededCounseling concerning community resourcesCounseling concerning government financial assistance programs as neededInitiation of discussions concerning long-term financial planning as appropriate

Nutritionist Full evaluation of each individual’s nutritional planRecommendations for an overall nutrition planRecommendations for Down syndrome–related problems, such as constipation, poor growth,

and obesity as necessaryOccupational and Physical Age-appropriate assessments

therapists (two individuals) Therapeutic recommendations, including exercise plans for adults with Down syndrome andother issues, such as self-care and compliance to recommended programs

Speech therapist Age-appropriate speech-screening evaluationAssessment of the individual’s current speech servicesRecommendations for receptive and/or expressive language interventions

Audiologist Verbal cues assessmentTympanometryReferral for oto-acoustic emissions (OAE) and auditory evoked brain stem response (ABR) as

appropriateParents Parent-to-parent support and networking

AAP, American Academy of Pediatrics

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height, weight, and head circumferencemeasurements are taken. These mea-surements are plotted on the age-appropriate Down syndrome growthcurves [Cronk et al., 1988; Saul et al.,1998]. Photographs are taken of eachpatient (anterior–posterior and lateralface and full body). These pictures arekept in the individual’s chart. The pa-tient is then escorted to his or her roomfor the day, where each team membersees the patient. Families are free to so-cialize with staff and other patients untilthe clinic begins at 8:30 a.m. Patientsare typically finished by 12:30 p.m.

Dictation

All of the thoughts/concerns abouteach patient are recorded on a singletape and transcribed into a single docu-ment. Upon editing the transcript, allrecommendations are numbered andplaced at the beginning of the docu-ment. The medical geneticist is ex-pected to review and sign the final dic-tation from all the providers of theclinic. Each family receives a copy ofthe consultation note, as do the referralsource, team members, and any otherphysician the caregiver has indicated.

Follow-Up

Patients are scheduled for follow-up ap-pointments based on the needs of thefamily, the needs of the primary carephysician, and the recommendations ofthe team. We recommend the follow-ing visit intervals: first visit between 3and 12 months, annually from 1 to 7years of age, and every 2 years from age8 to adulthood.

DISCUSSION

We chose to establish a designatedclinic for individuals with Down syn-drome after reviewing the successfulexperience of colleagues around thecountry. The primary impetus for theclinic came from the center’s faculty.We were concerned about our abilityto put together a multidisciplinary teamof providers, since our community doesnot have an academic medical center.

The response from initial inquiries tovarious providers (social service, neuro-psychology, audiology, occupationaltherapy, physical therapy, and nutri-tionists) was overwhelming. Everyteam member was excited about theprospect of such a clinic and the oppor-tunity to work together. We soughtand used feedback from patient satisfac-tion surveys and team members to re-view and improve the quality of caredelivery.

Medical genetics was the anchor-ing support for the clinic and those ser-vices were provided by a genetic coun-selor (acting also as a clinic coordinator)and a medical geneticist. The labor-intensive preclinic work facilitated thevisits of the multiple providers andhighlighted potential problems or areasof concentration for the appointmentday. While this strategy was successful,it points out the significant amount oftime and energy necessary to see thesepatients and their families. We sched-uled no more than four patients/halfday.

We have a very strong parent sup-port group for Down syndrome in ourcommunity. At every clinic, at least oneof these parents volunteered to meetwith families in concert with the otherproviders. The parents provide an in-valuable service—counseling families,sharing resources, and helping eachother understand the various healthcare, psychosocial, educational, and fi-nancial needs. Their advocacy is an im-portant component of our clinic andhas contributed to its ongoing success.The local support group began as a re-sult of the meetings at the Down syn-drome clinic. The group now holds

monthly meetings at the GreenwoodGenetic Center.

The Greenwood Genetic Center isa private, not-for-profit genetics insti-tute in a county with about 60,000people and serves a seven-county areaof 230,000 people. The lack of all of thesubspecialties (such as pediatric cardiol-ogy, pediatric gastroenterology, and pe-diatric ophthalmology) that might benecessary for various problems inDown syndrome did not appear to be adeterrent to establishing and maintain-ing the clinic. We recognized initiallythat referral to other facilities to followup identified problems might be neces-sary and that we would not have allservices that Down syndrome patientsand their families would need at ourclinic. Families have been eager to finda clinic that addresses the needs of theaffected family member, recognizingthat certain components of care mightneed to be obtained via referral else-where but can be coordinated from acentral location. We have not at-tempted to take over the role of pri-mary care physician for these patients,but rather we are primary care coordi-nators for a multisystem disorder—affecting health, psychosocial, and edu-cational issues. Several issues were iden-tified during these clinics that might notbe addressed during the routine healthcare of Down syndrome patients. Theyinclude unique hearing, speech, school,and psychosocial problems. Advice re-garding the need for and the availabilityof respite care was also a special com-ponent of the clinic.

Medical genetics was theanchoring support for theclinic and those services

were provided by a geneticcounselor (acting also as aclinic coordinator) and a

medical geneticist.

We have not attempted totake over the role of

primary care physician forpatients with Down

syndrome, but rather we areprimary care coordinators

for a multi-system disorderaffecting health,psychosocial, andeducational issues.

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Two major issues that will be ad-dressed with ongoing clinic develop-ment will be reimbursement and publiceducation/awareness efforts. The ser-vices of all team members will need tobe reimbursed unless independentfunding is found for the clinic. Publiceducation efforts regarding the clinicand its unique services will need to beintensified and provided to primaryhealth care providers as well. We wouldlike to concentrate our efforts to addressthe specific needs of adults with Downsyndrome. Additional assistance for thisgroup will be sought from specialistsin neurology and gynecology (forwomen), and educators or psychologistswith expertise in human sexuality issuesfor the mentally disabled. We havebeen fortunate to have a dedicated teamof professionals, willing to address themultitude of problems that face patientsand families. While the number of pa-tients seen in our clinic is not large, wehave demonstrated that such a multidis-

ciplinary clinic can be successful in anonacademic medical center in a semi-rural setting, providing a useful serviceto patients and families closer to home.

ACKNOWLEDGMENTS

We thank Joseph S. Geer, Jr., M.D., forhis work in establishing the Downsyndrome clinic and his ongoingleadership.

REFERENCES

Chicoine B, McGuire D, Hebein S, Gilly D.1994. Development of a clinic for adultswith Down syndrome. Mental Retardation32:100–106.

Chicoine B, McGuire D, Hebein S, Gilly D.1995. Use of the community-oriented pri-mary care model for a special needs popu-lation: a clinic for adults with Down syn-drome. Am J Public Health 85:869–870.

Committee on Genetics, American Academy ofPediatrics. 1994. Health supervision forchildren with Down Syndrome. Pediatrics93:855–859.

Cronk CE, Crocker AC, Pueschel SM, Shea AM,

Zackai E, Pickens G, Reed RB. 1988.Growth charts for children with Down syn-drome: 1 month to 18 years of age, Pediat-rics 81:102–110.

Down JL. 1866. Observations on an ethnic clas-sification of idiots. Clin Lect Rep LondonHosp 3:259–262.

Nadel L, Rosenthal D, editors. 1995. Down syn-drome: living and learning in the commu-nity. New York: Wiley-Liss. p 99, 239.

Pueschel SM. 1990. Clinical aspects of Downsyndrome from infancy to adulthood. Am JMed Genet Suppl 7:52–56.

Pueschel SM, Pueschel JK, editors. 1992. Bio-medical concerns in persons with Downsyndrome. Baltimore, MD: Paul H.Brookes. 310 p.

Saul RA, Seaver LH, Sweet KM, Geer JS, PhelanMC, Mills CM. 1998. Growth references:third trimester to adulthood. GreenvilleS.C.: Keys Printing. p 128–132.

Spahis J, Malloy A, Wilson GN. 1996. Naturalhistory of Down syndrome: feasibility andreliability of a population survey. Am JHum Genet 59:A105.

Wilson GN. 1996. Preventive practice guidelinesfor children with syndromes: implicationsof recommendations conveyed by a simpleflow-chart design. Am J Hum Genet 59:A108.

Wilson GN, Bradley K, Brookshire GS, Clark D,Spahias JK. 1994. Experience with a Downsyndrome clinic. Am J Hum Genet 55:A96.

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