Introduction

Defecation disorder is one of the most common gastrointestinal diseases in children, with a high incidence rate. It has become a major issue in pediatric gastroenterology outpatient services worldwide1. The incidence of constipation, a type of defecation disorder in children, can reach 30%, accounting for approximately 3% to 5% of all pediatric visits2,3,4. Notably, this condition involves bidirectional interactions between physical discomfort and psychological distress, ultimately affecting children’s overall well - being5,6. This complex interplay underscores the importance of addressing both somatic and emotional aspects in pediatric care.

Under the contemporary biopsychosocial medical model7, quality of life has emerged as a critical outcome measure for chronic conditions. However, existing research on defecation disorders has predominantly focused on adult populations, particularly the elderly and patients with malignancies. Studies specifically examining the quality of life in pediatric populations with defecation disorders remain scarce. Therefore, this study aimed to comprehensively evaluate the quality of life in children with defecation disorders across four dimensions: physical health, emotional functioning, social functioning, and cognitive functioning. Additionally, we examined the prevalence of negative emotions among caregivers to better understand the broader psychosocial context of these conditions.

Methods

Participants

Case group (defecation disorders)

The research subjects were children with defecation disorders who visited the outpatient clinic of the Children’s Medical Center of West China Hospital, Sichuan University, from June 1, 2024, to July 31, 2024. Inclusion criteria: (1) age ≤ 18 years; (2) children with symptoms such as constipation and fecal incontinence or who had undergone surgery for defecation disorders; (3) the information was filled in completely, and the content was not conflicting; (4) the person who filled out the form was a child caregiver, and the average childcare time in the past month was ≥ 4 h/day; (5) the caregiver voluntarily participated in the survey and was able to correctly understand and complete the questionnaire. Exclusion criteria: children with diseases that seriously affect the quality of life, such as esophageal atresia, chromosomal malformations, cyanotic heart disease, and other organ dysfunction.

Notably, for children presenting with refractory constipation, differential diagnosis between Hirschsprung’s disease and functional constipation was established through comprehensive evaluation, including intestinal barium radiography, anorectal manometry, and rectal mucosal biopsy. The diagnosis of Hirschsprung’s disease was confirmed when all three criteria were met: (1) intestinal barium radiography demonstrating intestinal stenosis or dilation; (2) anorectal manometry showing absent anorectal inhibitory reflex; (3) rectal mucosal biopsy revealing absent ganglion cells or CR (-). Children not meeting all three criteria were classified as having functional constipation.

Control group (healthy children)

Healthy children were recruited from three communities in Chengdu, China, using age- and sex-frequency matched sampling (± 1 year) from Aug 1 to 31, 2024. Inclusion criteria: (1) no acute or chronic diseases affecting physical, emotional, social, or cognitive functioning (e.g., malignancies, cardiovascular diseases, severe asthma, epilepsy, or psychiatric disorders); (2) the information was filled in completely, and the content was not conflicting; (3) the person who filled out the form was a child caregiver, and the average childcare time in the past month was ≥ 4 h/day; (4) the caregiver voluntarily participated in the survey and was able to correctly understand and complete the questionnaire. Exclusion criteria: to ensure comparability with the defecation disorder group in terms of sex and age, the lastly recruited participants may be excluded.

#Research tools.

Questionnaire for children’s basic information and caregivers’ feelings

This questionnaire for children with defecation disorders was designed by us and includes the following: the child’s age, sex, initial diagnosis (including intractable constipation, fecal incontinence, and post-surgery for defecation disorders), and whether the caregiver has any special feelings, such as imbalance, sleep disorders, fatigue, loneliness, irritability, depression, and other negative emotions. For healthy children, only basic information such as age and gender is investigated.

Pediatric Quality of Life Inventory[TM] (PedsQL[TM]) 4.08

Mandarin Chinese version: This scale was published in 2011, and is divided into standard and short versions. For children aged five years and above, there are two versions: a self-administered version and a parent-administered version. This study used the standard and parent-administered versions. It is mainly used to investigate the quality of life of children aged 1 month–18 years. It includes four dimensions: physical health, emotional functioning, social functioning, and cognitive functioning. The last three dimensions jointly reflect the children’s psychosocial health. The number of items and behavioral descriptions for each dimension were slightly different for different age groups. Each item investigates the frequency of an event in the past month. The answer options ranged from 0 to 4, with a total of five levels, representing never, almost never, sometimes, often, and almost always. The corresponding conversions were 100, 75, 50, 25, and 0 points, respectively. The score for each dimension is the sum of the scores of the answered items divided by the number of answered items. The total score and score for each dimension were between 0 and 100 points. A higher score indicates a better quality of life. The PedsQL[TM] scale was authorized by the author with the permission of Professor Varni, and the Chinese translation was verified by a form-publishing agency. Permission to use the Chinese version of PedsQL™ 4.0 Generic Core Scales was obtained from Mapi Research Trust (Lyon, France).

Investigation methods

This study employed a cross-sectional survey design with a control group and the above research tools were combined into a questionnaire to conduct a survey in the outpatient clinic of the Children’s Medical Center of the West China Hospital, Sichuan University and the three communities in Chengdu, China. The basic information and caregiver feelings questionnaire was used to investigate the general information of the children and the feelings of the caregivers, and the PedsQL[TM] scale was used to investigate the quality of life of children. After the questionnaire was completed, it was verified by three investigators and the preliminary survey was completed. After confirmation, the device was released. Four people participated in the investigation, including one deputy chief nurse, one head nurse, and two nurses. Before the investigation began, the investigators were uniformly trained to organize, explain, and guide the work. Data export, collation, and analysis were verified by the two participants.

Ethical principles

This study was reviewed and approved by the Biomedical Ethics Committee of the hospital where it was located, with ethics number 2023 (462). It strictly adheres to the principles of voluntariness, confidentiality, benefit, and minimal risk, and strictly screens research subjects according to the inclusion and exclusion criteria. The purpose, content, and methods of this study were explained in detail to selected children and caregivers. The participants participated voluntarily and could withdraw from the survey at any time during the study period. Personal privacy of the participants was kept confidential.

Sample size

According to the rough estimation method of sample content proposed by Kendall, the sample size is generally determined to be 10–20 times the survey index. In this study, the PedsQL[TM] scale had 4-dimensional items and eight indicators of caregiver perception, which required approximately 160 samples. Based on the outpatient volume during the same period last year, we expect to recruit a sufficient number of children with defecation disorders between June 1st and July 31st, 2024.

Statistical methods

SPSS 29.0 was used for data processing and statistical analysis. The normality of data distribution was assessed using the Shapiro-Wilk test. Normally distributed data are expressed as mean ± standard deviation (± s), non-normally distributed data are expressed as median (P25, P75), and count data are expressed as frequency and composition ratio. Normally distributed or approximately normally distributed data were analyzed via variance analysis, and non-normally distributed data were analyzed using the rank sum test, in which the Mann-Whitney U test was used for the comparison of two independent samples, and the Kruskal-Wallis test was used for the comparison of more independent samples. A two-sided test was used with a test level of α = 0.05.

Results

General information of the subjects included in the study

From June 1 to July 31, 2024, 170 questionnaires were collected from children with defecation disorders. After excluding 9 invalid responses (3 duplicates, 2 with incorrect information, and 4 with inconsistent information), 161 valid questionnaires were retained (94.7%). The 161 children had a median age of 47.0 (19.0–84.5) months ; 89 (55.3%) were male. Disease subtypes included functional constipation (n = 100, 62.1%), fecal incontinence (n = 26, 16.1%), Hirschsprung’s disease (n = 17, 10.6%), and postoperative defecation disorders (n = 18, 11.2%).

From August 1 to 31, 2024, 92 questionnaires were collected from healthy children. To match the sex distribution of the case group, the last 6 male questionnaires were excluded, yielding 86 valid responses (93.5%). The 86 children had a median age of 29.0 (13.8, 77.0) months ; 48 (55.81%) were male.

Although perfect 1:1 matching was not achieved due to recruitment challenges, the age and sex difference between groups was not statistically significant. The details are presented in Table 1.

Comparison of quality of life scores between children with defecation disorders and healthy children

When healthy children were used as controls, the total scores for physical health, emotional function, social function, and cognitive function, as well as the total score for quality of life of children with defecation disorders, were significantly lower (P < 0.001), as shown in Table 2.

Comparison of quality of life scores between children with different types of defecation disorders and healthy children

Through pairwise comparison, the quality of life after surgery among children with Hirschsprung’s disease, functional constipation, fecal incontinence, and defecation disorders was found to be similar, and the difference was not statistically significant. Compared to healthy children, children with Hirschsprung disease had lower scores in emotional function, social function, cognitive function, and psychosocial health dimensions (P < 0.05). Additionally, children with functional constipation, fecal incontinence, or defecation disorders had lower scores than healthy children in all subdimensions and total quality of life scores healthy children (P < 0.05). The details are presented in Table 3 and Figs. 1, 2, 3, 4, 5 and 6.

Table 1 Basic information of children with defecation disorders and healthy children.
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Table 2 Comparison of quality of life scores between children with defecation disorders and healthy children.
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Table 3 Comparison of quality of life scores among different types of defecation disorders and healthy children.
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Fig. 1
Fig. 1The alternative text for this image may have been generated using AI.
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Kruskal‒Wallis test for independent samples of physical health.

Fig. 2
Fig. 2The alternative text for this image may have been generated using AI.
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Kruskal‒Wallis test for independent samples of emotional function.

Fig. 3
Fig. 3The alternative text for this image may have been generated using AI.
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Kruskal‒Wallis test for independent samples of social function.

Fig. 4
Fig. 4The alternative text for this image may have been generated using AI.
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Kruskal‒Wallis test for independent samples of cognitive function.

Fig. 5
Fig. 5The alternative text for this image may have been generated using AI.
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Kruskal‒Wallis test for independent samples of psychosocial health.

Fig. 6
Fig. 6The alternative text for this image may have been generated using AI.
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Kruskal‒Wallis test for independent samples of quality of life.

Survey results on the perceptions of caregivers of children with defecation disorders

Nearly half of the caregivers of children with defecation disorders have negative emotions, with the top three being irritability, depression, and fatigue. There was no statistically significant difference in the psychological feelings of caregivers of children with different types of defecation disorders, such as no special feelings, imbalance, fatigue, loneliness, irritability, and depression. Further details are provided in Table 4.

Table 4 Comparison of caregivers’ feelings toward children with different types of defecation disorders.
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Discussion

Zeynep et al.9 demonstrated that constipation significantly impairs quality of life in outpatient chemotherapy patients, with prevalence comparable to other cancer-related physical symptoms. Yan et al.10 similarly reported diminished quality of life among elderly individuals with functional constipation. These studies, however, focused on adult populations with comorbid conditions (malignancy, advanced age) rather than pediatric cohorts. Consistent with observations in adult populations, this study found that children with defecation disorders exhibited significantly lower total quality of life scores compared to healthy controls, with statistically significant reductions across all four dimensions: physical health, emotional functioning, social functioning, and cognitive functioning (P < 0.05). The observed quality of life impairment may be understood through established biopsychosocial mechanisms. Anxiety and depression can elevate rectal sensory thresholds, increase pelvic floor muscle tension, and induce paradoxical anorectal contraction during defecation6. Conversely, persistent physical symptoms—including abdominal pain, difficult bowel movements, and fecal incontinence—may precipitate emotional distress and behavioral changes. This bidirectional relationship creates a mutually reinforcing cycle11,12,13. Notably, clinical observations indicate that children with constipation may develop fecal incontinence secondary to psychological stress, which subsequently amplifies social and psychological burden. These findings suggest that clinical management should extend beyond amelioration of physical symptoms to address emotional, social, and cognitive sequelae of defecation disorders. Interrupting the reciprocal relationship between physical symptoms and psychological distress represents a critical therapeutic objective for improving overall quality of life in this population.

Previous studies have documented that fecal incontinence may engender negative psychological sequelae—including embarrassment, social withdrawal, and peer isolation—which compromise children’s psychosocial development and quality of life2,14. The present study confirmed that children with fecal incontinence exhibited significantly impaired quality of life relative to healthy controls. Unexpectedly, however, no significant difference in quality of life was observed between children with functional constipation and those with fecal incontinence. This equivalence is noteworthy given that functional constipation, unlike organic conditions (e.g., Hirschsprung’s disease) or fecal incontinence, is generally considered less severe. Several mechanisms may contribute to this finding. First, emerging evidence implicates intestinal microbiota in both gastrointestinal function and neurobehavioral regulation15,16,17,18. Altered gut microbiota in children with functional constipation may influence neurotransmitter synthesis, potentially affecting emotional regulation and behavioral adaptation. Second, caregiver responses to functional constipation may inadvertently exacerbate children’s distress19. Overreliance on medical interventions without concurrent behavioral modification or family-based strategies may result in suboptimal outcomes and sustained symptom burden. Healthcare providers should therefore prioritize comprehensive education for caregivers of children with functional constipation, utilizing diverse modalities (written materials, digital media) to promote evidence-based management approaches and mitigate quality of life impairment.

Clinicians generally consider Hirschsprung’s disease the most severe form of pediatric defecation disorder due to its organic etiology and surgical requirement. For children without this diagnosis, management typically emphasizes dietary modification, habit training, and pharmacological interventions that families can implement at home19,20,21. Consequently, caregivers of children with Hirschsprung’s disease may perceive greater helplessness, as preoperative interventions address symptoms rather than underlying pathology, with constipation frequently recurring or worsening upon cessation of treatment. Contrary to this expectation, however, the present study found comparable levels of negative emotions across caregivers of children with Hirschsprung’s disease, functional constipation, fecal incontinence, and postoperative status. This equivalence suggests that diagnostic severity does not necessarily predict caregiver psychological burden. We hypothesize that caregivers of children with functional constipation may experience substantial distress stemming from conceptual misunderstandings of the condition or intrafamilial disagreements regarding management approaches—factors potentially more distressing than the symptoms themselves. These findings underscore the necessity of family-centered interventions and group-based support strategies in the comprehensive management of functional constipation.

Limitations

This study has several limitations. First, the results may be limited by the specific environment and population of a single research center and cannot represent all children with defecation disorders. Second, this study only used a simple self-reported evaluation method when investigating caregivers’ emotions but did not use a professional mental health assessment scale. Third, due to the difficulty in recruitment, the ratio of healthy children to those with fecal incontinence did not reach 1:1. The uneven distribution of participants between the groups constituted a methodological limitation of this study. Fourth, the sample size calculation using Kendall’s method is a rough estimation; future studies should use more robust methods based on expected effect size, significance level (α), and statistical power (1-β).

Conclusions

In summary, the quality of life of children with defecation disorders is significantly lower than that of healthy children. Regardless of the specific type of defecation disorder, these conditions substantially impair children’s physical health, emotional functioning, social functioning, and cognitive functioning. It is important to recognize that while psychological or behavioral disorders may coexist with defecation disorders, quality of life represents a distinct multidimensional construct that warrants independent assessment and intervention. Healthcare providers and caregivers should adopt a comprehensive approach that addresses the full spectrum of children’s well-being, including physical symptoms, emotional regulation, social integration, and cognitive development. Family participation and group-based interventions may be particularly beneficial for improving outcomes. Caregivers are encouraged to seek accurate information about defecation disorders through multiple channels, which may help reduce their own negative emotions and enhance their caregiving capabilities, thereby indirectly benefiting the child’s quality of life.