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Burden of Illness in Screen-detected Children With Celiac Disease and Their Families

Kinos, Sampsa*; Kurppa, Kalle; Ukkola, Anniina; Collin, Pekka*,‡; Lähdeaho, Marja-Leena; Huhtala, Heini§; Kekkonen, Leila||; Mäki, Markku; Kaukinen, Katri*,‡

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Journal of Pediatric Gastroenterology and Nutrition: October 2012 - Volume 55 - Issue 4 - p 412-416
doi: 10.1097/MPG.0b013e31825f18ff
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See “Screening Celiac Disease in At-risk Groups: Effect of Diagnosis on Perceived Health of Children and Their Families” by Valitutti et al on page 365.

Celiac disease is a chronic autoimmune-mediated enteropathy caused by dietary gluten. The disorder has both intestinal and extraintestinal manifestations and the clinical picture is thus diverse (1–3). Furthermore, patients may be asymptomatic and identifiable only through intensified screening in at-risk groups such as relatives of patients or subjects with other autoimmune diseases (4,5). By reason of the heterogeneous clinical presentation, the disease remains markedly underdiagnosed (6,7). It, however, is unclear whether all of the affected subjects should be sought out by screening. In symptomatic celiac patients, the benefits of a gluten-free diet are well established because it has been shown to reduce clinical symptoms and ameliorate complications (8,9). By contrast, it is by no means settled that screen-detected children gain equal benefits from treatment (10). A strict gluten-free diet imposes major limitations on daily life and is difficult to maintain, as demonstrated by the frequently observed poor adherence (11–13). In addition, removal of gluten from baked products renders them less palatable than comparable items in the normal diet. Particularly children and adolescents may feel isolated from their peers because of the illness and restrictive diet (14,15). Thus, when weighing the possible harm and benefit of active screening, it is essential to consider the patients’ personal perceptions and the experienced burden of the disease. Furthermore, the child's specific needs as a patient should be taken into account.

The aim of the present nationwide prospective study was to evaluate subjective perceptions of health and well-being in newly diagnosed children with celiac disease and adolescents detected by screening in at-risk groups and to investigate the parents’ experience of the disease. Subsequently, the effect of a 1-year gluten-free diet was assessed. The results were compared with those of children diagnosed on the basis of clinical symptoms.


The study was conducted at the Pediatric Research Center, University of Tampere, and Tampere University Hospital. The participants were recruited in collaboration with the Finnish Celiac Society, which presently has more than 20,000 members. Approximately 70% of celiac patients in the country belong to the society. Between February 2007 and May 2008, all of the new members younger than 16 years were invited to participate and received a mailed structured questionnaire. Newly detected (within 12 months) patients with biopsy-proven celiac disease were eligible. A follow-up questionnaire was sent to all of the original respondents after 1 year on a gluten-free diet. Written informed consent was obtained from all of the study subjects and their parents.

In the baseline questionnaire, participants’ demographic data and the severity and inconvenience of the possible clinical symptoms before diagnosis were asked. In the follow-up questionnaire after 1 year on the diet, strictness and difficulty in maintaining a gluten-free diet, its effects on clinical symptoms and daily life, children's attitudes toward celiac disease, and parents’ satisfaction with the children's diagnosis were inquired about. In addition, the self-perceived health of the child and parent's concern for it were assessed at baseline and after 1 year on a gluten-free diet.

The appropriateness of the questionnaires was tested beforehand within the Finnish Celiac Society. A subset of 11 patients with celiac disease also completed the questionnaire 1 week after the first appointment, and test–retest reliability was established using the interclass correlation coefficient. For the key items in the questionnaire, the kappa values for test–retest reliability ranged from 0.84 to 1.00 (values above 0.70 being regarded to be excellent). Because the items inquired in the questionnaire were separated, a Cronbach α was not calculated. Face and content validity of the initial items were ensured through evaluation of the survey content by pediatric and adult gastroenterologists and by a celiac disease focus group.

After collection of the baseline data, the patients were divided into 2 groups according to the clinical presentation of celiac disease at diagnosis:

  1. Subjects diagnosed by screening in population-based research programs or in at-risk groups such as first-degree relatives and children with type 1 diabetes mellitus, thyroid disease, or Down syndrome (screen-detected celiac disease, study group)
  2. Patients diagnosed on the basis of gastrointestinal or extraintestinal complaints such as diarrhea, malabsorption, abdominal pain, growth retardation, dermatitis herpetiformis, arthritis, arthralgia, or neurological symptoms (symptom-detected celiac disease, control group)

All of the data were blindly coded before the analyses. When appropriate, chi-square test in cross-tabulations and Student t test or Mann-Whitney U test were used to compare differences between groups and paired t test or Wilcoxon signed rank test was used to compare changes within groups. All of the testing was 2-sided and P values <0.05 were considered statistically significant. All of the statistical data were analyzed by the PASW for Windows statistical software package version 18.


A total of 222 questionnaires were sent and 144 (65%) families responded. Eight respondents with too old diagnosis and 5 with no biopsy-proven celiac disease were excluded. Of the 131 eligible children, 129 (98%) returned the follow-up questionnaire. Forty-three (32%) cases were found by screening (study group); of the remaining 88 (68%) symptom-detected patients (control group), 43 had experienced gastrointestinal and 45 extraintestinal symptoms. The age and sex distributions between the screen- and symptom-detected groups were comparable (Table 1). Of note, 65% of the screen-detected patients had also experienced some clinical symptoms before diagnosis; however, the symptoms were of shorter duration and less troublesome when compared with those in the symptom-detected control group. As to the parents’ reaction to their children's diagnosis, there was no difference between the screen- and symptom-detected groups (Table 1).

Demographic data on screen- and symptom-detected celiac disease in children, duration and experienced harm caused by symptoms before diagnosis, and parents’ reaction to the diagnosis of celiac disease

After 1 year on the diet, there was no statistically significant difference between the study and control groups in dietary adherence, and none of the children reported unrestricted gluten consumption (Table 2). There were somewhat more occasional dietary lapses among the screen-detected patients, but the difference was not statistically significant. In a subgroup analysis among screen-detected subjects, dietary adherence did not differ between completely asymptomatic children and those who reported symptoms at diagnosis (P = 0.839).

Adherence, capability, and difficulty in maintaining a gluten-free diet and the effect of 1-year treatment on clinical symptoms and daily life in screen-detected and symptom-detected children with celiac disease

The screen- and symptom-detected children were equally capable of maintaining a gluten-free diet, and only 2 subjects in both groups found it difficult to cope with (Table 2). Despite differences in baseline presentation, comparable percentages in both groups reported that the symptoms had disappeared or decreased on diet (Table 2). Of note, 50% of the screen-detected children with no apparent symptoms at diagnosis also reported alleviation of symptoms. The treatment was considered equally beneficial in daily life in both the screen- and symptom-detected children (Table 2). In addition, 93% of the screen-detected and 88% of the symptom-detected patients reported a positive or indifferent attitude toward celiac disease after 1 year, and in all but 2 families the parents were content that the children had been diagnosed (Table 3).

Children's attitudes toward their disease and parents’ satisfaction with the children's diagnosis after 1 year on a gluten-free diet

At diagnosis, parents in the screen- and symptom-detected celiac disease groups rated their children's overall health similarly (Fig. 1). After 1 year on a gluten-free diet, significant improvement in experienced health was observed in both groups (Fig. 1). Likewise, both sets of parents were equally concerned for their children's health at diagnosis, and the present concern was significantly reduced in both groups on treatment (Fig. 2).

Parents’ estimation of their child's overall health at the time of diagnosis (Dg) and after 1 year on a GFD. There was no difference between the screen- and symptom-detected children with celiac disease at diagnosis (P = 0.303). GFD = gluten-free diet.
The degree of parents’ concern for their child's health at the time of diagnosis (Dg) and after 1 year on a GFD. There was no difference between the screen- and symptom-detected children with celiac disease at diagnosis (P = 0.413). GFD = gluten-free diet.


Patient satisfaction and self-assessed health have become important criteria in evaluating the quality of health care (16). In the present prospective, nationwide study, we focused on patient-centered outcomes concerning the subjective burden of celiac disease. For this reason, we did not use traditional quality-of-life parameters, but instead sought to uncover the hidden issues that families with children having screen-identified celiac disease themselves find important in respect to the subjective burden of the illness. Our results showed screen-detected and symptom-detected children and their families to evince equal response to the celiac disease diagnosis and subsequent treatment with a gluten-free diet. Regardless of the initial clinical presentation, most children were satisfied at being diagnosed and adapted to living with their condition. Furthermore, the treatment was clearly beneficial for both screen- and symptom-detected children, because their self-perceived health improved significantly while on the diet. This beneficial effect was shared by the parents, whose concern for their children's health was reduced. It is important to note that most screen-detected children in the present study were not asymptomatic at diagnosis, but had in fact experienced unrecognized celiac disease-related symptoms, which is in line with earlier findings (4,5,7,17). Furthermore, 50% of those screen-detected patients who initially reported no symptoms experienced clinical improvement on a gluten-free diet. These findings suggest that some untreated children with celiac disease adapt to minor, vague gluten-induced symptoms, which are recognized only retrospectively after successful dietary therapy. Such recovery may partly explain why screen-detected children and their families adjusted so well to the diet, although this meant radical changes in everyday eating habits and lifestyle (18).

Long diagnostic delays in celiac disease are common in both children and adults (19–21). Increased awareness of the diversity of symptoms among health care professionals and augmented serological testing have been shown to reduce delay in diagnosis (22,23). Also here, even though many screen-detected celiac disease patients had experienced clinical symptoms before diagnosis, active screening markedly shortened the diagnostic delay compared with that in the symptom-detected children. Interestingly, screen-identified children also experienced significantly less trouble from their symptoms when compared with the symptom-detected patients. This suggests that intensified screening may identify children with celiac disease before symptoms worsen and increase the burden of the disease. The present findings emphasize the importance of active screening and early recognition of celiac disease in children belonging to at-risk groups or experiencing ambiguous symptoms.

Due to the restricted nature and expense of a gluten-free diet, compliance with the regimen easily remains inadequate (13,24), and especially adolescent patients with celiac disease and those detected by serological screening are thought to be at risk of poor adherence (11,25). It has further been suggested that screening at a younger age (from 2 to 4 years) may positively influence dietary adherence (5). Although our screen-detected celiac disease group contained children in all of the age groups and occasional dietary lapses were slightly more common among the screen-detected group, the overall adherence to the diet was equally good in both groups. The fact that many screen-detected children had family members with celiac disease may have contributed to these positive results. In contrast to previous findings (11,25), our results suggest that relatively good dietary adherence is achievable also in children with celiac disease detected by serological screening in at-risk groups.

The major strengths of the present study were its prospective nature and nationwide coverage. Furthermore, the use of self-reported data offered an opportunity to explore patient-related outcomes and subjective disease burden among children with celiac disease and their families. It is true that all of the participants were members of the national celiac society, which may have made for positive results and may limit their applicability. We nonetheless believe that our cohort was well representative of children with celiac disease in general because approximately 70% of all of the patients with celiac disease in the country are members of the society. In addition, the presence of diverse gastrointestinal and atypical symptoms in our subjects is characteristic of the wide range of patients with celiac disease encountered in present-day clinical practice (1–3). Overall, we take these results also to be a reflection of the countrywide celiac disease awareness campaigns started in the 1970s, which have brought out a biopsy-proven prevalence of 0.7% of the total population in Finland (26). The fact that we used self-reported data may be considered a limitation to the study in that it may involve inaccuracies. Few studies have shown that self-reported gluten-free diet assessment can be unreliable, because self-reported measures may not correlate closely with nutritionist evaluation, serologic screening, or small bowel biopsy results (27,28). Nevertheless, in our study, data on screen- and symptom-detected patients with celiac disease were processed similarly, making the comparisons between the study groups appropriate.

In conclusion, the present study showed that early diagnosis and dietary treatment of celiac disease in screen-detected children does not increase the burden of illness, but rather relieves it in like manner as among symptom-detected patients. In addition, a positive attitude toward the diagnosis and satisfactory adherence to a gluten-free diet can also be achieved in the present patient group. These findings indicate that active case finding and screening for celiac disease in at-risk groups is justified in children.


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burden; celiac disease; child; gluten-free diet; screen detected

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