Use of health care guidelines in patients with Down syndrome by family physicians across Canada

Abstract

OBJECTIVE

To describe the occurrence of common medical and psychological conditions in individuals with Down syndrome during their life span, and to measure the use of the Down Syndrome Medical Interest Group’s health care guidelines by family physicians across Canada, as reported by parents or caregivers.

METHODS

The Down Syndrome Research Foundation sent a questionnaire to 314 families across Canada who were part of the Canadian Voluntary Registry on Down Syndrome. This questionnaire was designed to collect information from parents about physical examinations, laboratory tests, referrals and discussions with family physicians that are listed in the health care guidelines.

RESULTS

Two hundred twenty-three families responded to the survey. The highest response rates were in families with children in the five- to 12-year-old age range (41.7%) and the 13- to 18-year-old age range (19.7%). The most common medical conditions reported were visual, hearing and cardiac related. A high percentage of sleep-, gastrointestinal- and thyroid-related conditions were also reported. In the adult group (ie, 30 years of age and older), there was a high proportion of depression and/or anxiety disorders reported. The percentage of those reporting physical examinations and medical referrals by family physicians were highest in the five- to 12-year-old age range and dropped below 50% in those aged 19 years and older. In the one- to four-year-old and five- to 12-year-old age groups, the percentages of those with Down syndrome referred for hearing tests and celiac screens were reported to be below 30%. The percentages of those reporting discussions on behavioural issues were below 50% in all age groups.

CONCLUSIONS

Physical examinations, as per the recommended guidelines, were followed only in the five- to 12-year-old age group. Many of the recommendations regarding discussion of behavioural problems, transition planning, diet, exercise and issues around puberty or sexual health were followed infrequently in all age groups. Further physician education about the guidelines is necessary.

Down syndrome (DS) is the most common noninherited, ‘organic’ cause of mental retardation and occurs in approximately one of every 600 live births (1). It is a result of the presence of all or a portion of an extra copy of chromosome 21. Early detection and improvements in health care have led to a significant increase in the life expectancy of individuals with DS (2). However, children with DS have an increased risk of certain congenital anomalies. The Down Syndrome Medical Interest Group (DSMIG) based in the United States has developed a checklist of medical tests and evaluations recommended for children and adults with DS (3). The objective of the present study was to describe the occurrence of common medical and psychological conditions in individuals with DS across their life span, and to obtain a baseline measure on the use of the DSMIG health care guidelines by family physicians across Canada, as reported by parents or caregivers.

METHODS

In 2000, the Down Syndrome Research Foundation established the Canadian Voluntary Registry on Down Syndrome. The purpose of the registry is to document general medical- and health-related conditions and concerns for individuals with DS and their families (4). The initial registry was developed in consultation with primary health care providers, researchers and families of individuals with DS. The main registry consists of six sections: basic demographic information, birth-related information, description of medical conditions, description of behavioural and/or psychological conditions, educational background and social information, as well as an open-ended question to encourage comments on current issues and concerns. Participation in the registry is on a national level, and various organizations (eg, community living associations across Canada, the Canadian Down Syndrome Society) have informed their members of the registry. Enrolment in the registry is centralized through a password-protected database housed at the Down Syndrome Research Foundation in Burnaby, British Columbia.

Currently, there are 314 individuals participating in this registry. In addition to the information in the basic registry, an additional questionnaire was developed in 2005 based on the DSMIG health care guidelines. Families were invited to participate in this questionnaire, which consisted of a checklist of specific physical examinations, tests, referrals and discussions as outlined in the health care guidelines, translated into lay terms. This questionnaire was mailed to all the families in the registry.

RESULTS

Demographic characteristics

Of the 314 individuals participating in the registry, 223 participants responded to the survey (71% of the total number of families). Table 1 shows the demographic characteristics of the families surveyed. The highest response rates were in Ontario (41.7%) and British Columbia (38.1%). In terms of age distribution, the highest response rates were received from families with children in the five- to 12-year-old age range (41.7%) and the 13- to 18-year-old range (19.7%). There were approximately the same number of male and female respondents represented in the sample. Seventy-eight per cent of the participants lived in or on the edge of a city, 12% lived in a small town and 10% lived in a rural community.

TABLE 1.

Demographic characteristics of participants with Down syndrome (n=223)

	Responders, n (%)
Provincial distribution
Alberta	16 (7.2)
British Columbia	85 (38.1)
Manitoba	5 (2.2)
New Brunswick	1 (0.45)
Newfoundland	3 (1.3)
Ontario	93 (41.7)
Quebec	8 (3.6)
Saskatchewan	10 (4.5)
Yukon	2 (0.9)
Sex
Female	103 (46.2)
Male	120 (53.8)
Age group
1–12 months	3 (1.3)
1–4 years	24 (10.8)
5–12 years	93 (41.7)
13–18 years	44 (19.7)
19–30 years	31 (13.9)
31–40 years	13 (5.8)
>40 years	15 (6.7)

Medical conditions

The most common medical conditions reported by families were visual-, hearing- and cardiac-related conditions. A high percentage of sleep-, gastrointestinal- (including celiac disease, duodenal atresia and Hirschsprung’s disease) and thyroid-related conditions were also reported (Figure 1). Table 2 shows the most commonly reported diagnoses made by clinical psychologists by age range. In the childhood and adolescent years, attention deficit hyperactivity disorder, disruptive behaviours and obsessive-compulsive behaviours were most commonly reported. It is particularly noteworthy that in the adult group (ie, 30 years of age and older), depression and/or anxiety disorders were most commonly reported.

Figure 1.

Medical conditions reported by families. Reported prevalence rates included obstructive sleep apnea (21%), cardiac disease (45%), hearing disorders (47%) and visual deficits (56%). GI Gastrointestinal; MS Musculoskeletal; Resp Respiratory

TABLE 2.

Most commonly reported diagnoses made by clinical psychologists

Age range	Diagnosis
5–12 years	• Attention deficit hyperactivity disorder and disruptive behaviour (9%)
13–18 years	• Obsessive-compulsive disorder (16%)
19–30 years	• Sleep disorder (19%)
31–40 years	• Depression or anxiety disorder (38%)
	• Sleep disorder (23%)
40 years and older	• Depression or anxiety disorder (46%)

Health care guidelines

Responses concerning adherence to the DSMIG health care guidelines were divided into three categories: physical examinations performed by the family physician (including eye, dental, and ear, nose and throat examinations); medical tests and referrals (including thyroid function tests, screening for celiac disease, etc); and discussions concerning behavioural issues. The percentage of respondents reporting physical examinations was highest in the five- to 12-year-old range, and dropped below 50% for those aged 19 years and older. The percentage of respondents reporting medical referrals and laboratory tests was just over 50% for those aged one to 18 years and was below 50% for the 19 years and older age group. The percentage of respondents reporting discussions on behavioural issues was below 50% for all age groups. It was highest for those in the 31- to 40-year-old age group and the five- to 12-year-old age group (Figure 2).

Figure 2.

Graph showing per cent adherence to the Down Syndrome Medical Interest Group health care guidelines according to respondents

Table 3 shows the specific examinations and/or medical referrals that were reported to have been completed in less than 30% of children between the ages of one to 12 years. Only 20% to 25% of children in the one- to four-year-old and five- to 12-year-old age groups were referred for hearing tests and celiac screening.

TABLE 3.

Specific examinations and/or medical referrals reported to have been completed in less than 30% of children between one and 12 years of age

Age range	Referral rate (%)
One to four years of age
Referral for hearing test	25
Referral for celiac screen	20
Five to 12 years of age
Referral for hearing test	23
Referral for celiac screen	23

DISCUSSION

The information obtained in the present study was received exclusively from parents who were willing to participate in the Canadian Voluntary Registry on Down Syndrome. As such, the experiences of the present sample may not be representative of the experiences of the larger population of families having children with DS. It would be extremely useful to conduct a parallel study to examine data from physicians’ reports. In spite of this limitation, our data on the occurrence of medical conditions do corroborate with reports in the literature. The most common medical conditions reported were visual-, hearing- and cardiac-related conditions. Forty-five per cent of individuals were reported to have been diagnosed or received treatment for cardiac-related conditions. A number of studies have reported that the incidence of cardiac conditions is between 35% and 50% in children with DS (2,5). In our survey, 47% of families reported hearing problems in both children and adults. A recent survey by Leonard et al (6) found that 57% of school-aged children with DS had been diagnosed with an ear problem (including chronic otitis media and hearing loss). A high rate of visual problems was reported in our survey (56%); Tsairas et al (7) reported visual deficits, including amblyopia, strabismus and decreased vision, in 46% of their sample of 73 children with DS. Also in the present study, in the adult group (ie, 30 years of age and older), there was a high proportion of depression and/or anxiety disorders reported. Prevalence rates for depression in adults with DS have been reported to be between 6% and 15% (8–10). Our results suggest that the incidence of depression and/or anxiety disorders may be higher than previously reported.

Our data on reported physical examinations and medical referrals indicate that many of the recommended guidelines were being followed in the five- to 12-year-old age range, but that guideline adherence dropped to below 50% in those aged 19 years and older. In the one- to four-year-old and five- to 12-year-old age groups, referrals for screening of celiac disease were reported to have occurred in less than 30% of individuals with DS. This is of some concern, because a number of recent studies have indicated that the prevalence of celiac disease is higher in those with DS than in the general population, ranging from 4.6% to 10.3% (11–13). Referrals for hearing tests were also reported to have occurred in less than 30% of those with DS, and given the previously reported incidence of hearing problems in children with DS, further investigation into this issue is clearly needed.

The percentage of respondents with whom there had been discussion on behavioural issues was reported to be below 50% in all age groups. This low percentage may reflect the comfort level and expertise of family physicians in the assessment and management of behavioural issues. Recently, Miller et al (14) reported that physicians have an intermediate level of comfort and skill in dealing with children with behavioural problems, social-emotional difficulties, attention deficit hyperactivity disorder and mood disorders overall; the highest level of comfort and skill was reported for mood disorders and the lowest for behaviour problems. Given the complex range of medical and health issues associated with DS, family physicians have an important and central role in the ongoing management of such individuals. The College of Family Physicians of Canada has identified four principles of Family Medicine (15):

• The family physician is a skilled clinician who demonstrates competence in patient-centred clinical methods, possesses good understanding of human development and is skilled at providing information to patients.

• Family medicine is a community-based discipline. The family physician evaluates and treats patients with chronic diseases, emotional problems, acute disorders and complex biopsychosocial problems.

• The family physician is a resource to a defined practice population who has the responsibility to advocate public policy that promotes the patient’s health.

• The patient-physician relationship is central to the role of the family physician.

Most Canadian children receive primary health care, defined as the care of nonreferred or self-referred children, from family physicians. In some regions of Canada, paediatricians also provide primary health care; however, the majority of paediatricians focus on providing consultations with family physicians, as well as caring for acutely and chronically ill infants and children with complex disorders.

CONCLUSIONS

The DSMIG practice guidelines have been widely distributed to parents and other caregivers of children and adults with DS. Unfortunately, family physicians and paediatricians are not as well informed. There is no mention of the guidelines in popular child-oriented textbooks (eg, Nelson Textbook of Pediatrics [16]); however, they were published in the journal Pediatrics several years ago (17). The present study indicates that further physician education about the DSMIG guidelines is clearly necessary.

The results of the study present a number of different questions for future research. What is the level of familiarity with the DSMIG guidelines among paediatricians and family physicians? Are physicians with special interests in DS more familiar with the guidelines than those with very few DS patients? How does the position of the College of Family Physicians of Canada on the management of patients with DS relate to the guidelines? Finally, it would be worthwhile to investigate whether family physicians’ interest and expertise in disability-related issues parallel the reduction trends in comprehensive family care across the country, as well as how these differ between rural and urban communities.

APPENDIX Checklist of tests and recommendations (translated in lay terms) as per the Down Syndrome Medical Interest Group’s health care guidelines

Neonatal (birth to one month)	Infant (one to 12 months)	Childhood (one to 12 years)	Adolescent (13 to 18 years)	Adult (older than 18 years)
Auditory brain stem response Referral to paediatric cardiologist Thyroid function test Referral to paediatric ophthalmologist Genetic counselling/chromosomal karyotype Referral to local Down syndrome parent group	Auditory brain stem response Referral to paediatric cardiologist Thyroid function test Eye examination Ear, nose and throat examination Referral to local Down syndrome parent group Referral to feeding consultant Referral to nutritionist Discussion of financial assistance	Referral to behavioural auditory testing Referral to paediatric cardiologist Thyroid function test Eye examination Ear, nose and throat examination Dental examination Screening for celiac disease Referral for x-ray of the spine Referral to speech and language pathologist Discussion about behaviour problems	Referral to auditory testing Cardiac evaluation Thyroid function test Eye examination Discussion about diet Discussion about exercise Referral to health professional about sexual education Referral for x-ray of the spine Discussion about sleep patterns Discussion about transition planning Discussion about smoking, drug and alcohol education	Referral to auditory testing Cardiac evaluation Thyroid function test Eye examination Discussion about diet Discussion about exercise Referral to health professional about sexual education Referral for x-ray of the spine Discussion about sleep patterns Baseline mammography Pap smear and pelvic examination Referral to neurologist