Orphanet Journal of Rare Diseases | Prevalence of Avoidant/Restrictive Food Intake Disorder (ARFID) Symptoms in Children and Adolescents with Rare Diseases

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This study is the first to systematically assess the prevalence of ARFID symptoms in a large cohort of children and adolescents with rare diseases, revealing significant associations with health-related quality of life and mental health, and emphasizing the need for enhanced recognition and intervention of this comorbidity in clinical practice.

 

Literature Overview

The article 'Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases,' published in the Orphanet Journal of Rare Diseases, reviews and summarizes the prevalence of avoidant/restrictive food intake disorder (ARFID) symptoms among children and adolescents aged 8–21 with rare diseases, and their associations with sociodemographic characteristics, eating behavior pathology, health-related quality of life (HRQoL), and mental health. Based on baseline data from the multicenter clinical cohort CARE-FAM-NET, the study assessed ARFID symptoms using both self-report and parent-report methods, comparing results with normative data. Findings indicate that ARFID symptoms are relatively common in this population, particularly in parent reports, and are significantly associated with lower HRQoL and poorer mental health. The study underscores the importance of systematic screening for eating disorders in the clinical management of children with rare diseases. It also notes that ARFID symptoms are prevalent across varying disease severities, suggesting they may exist independently of the progression of the primary condition. These findings provide new insights into the complex nutritional behaviors of children with rare diseases and support the need for interdisciplinary intervention strategies.

Background Knowledge

Avoidant/Restrictive Food Intake Disorder (ARFID) is an eating disorder characterized by significantly limited food intake in terms of quantity or variety. Unlike anorexia nervosa, ARFID does not involve intense fear of gaining weight or distorted body image. Instead, it arises from a lack of interest in eating, sensory sensitivities, or fear of adverse consequences of eating (e.g., choking, vomiting). ARFID typically begins in childhood and is often comorbid with anxiety disorders or autism spectrum disorder. Rare diseases are defined in Europe as conditions affecting fewer than 1 in 2,000 people. Despite their diversity, rare diseases are often chronic, severe, begin in childhood, and involve multiple organ systems. Some rare diseases directly cause feeding difficulties—for example, metabolic disorders requiring strict dietary control, gastrointestinal diseases causing pain or discomfort, or neurological conditions affecting sensory processing—all of which may contribute to the development of ARFID. However, previous studies have largely focused on specific rare diseases or clinical referral samples, lacking systematic epidemiological data on ARFID across a broad range of rare diseases. Additionally, ARFID assessment is subject to reporter discrepancies—self-reports by children and parent-reports often differ, possibly due to differences in observation, cognitive development, or family coping mechanisms. This study fills that gap by using a large, multicenter design with standardized psychological instruments to systematically reveal the true burden of ARFID in children with rare diseases and its impact on psychosocial functioning, providing essential baseline data for future mechanistic and intervention studies. Current challenges include distinguishing between 'secondary' feeding difficulties and clinically significant ARFID pathology in complex medical contexts, and integrating psychological, nutritional, and family-based support into comprehensive care.

 

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Research Methods and Experiments

This study employed an observational design using baseline data from the multicenter randomized controlled trial CARE-FAM-NET, including 309 families of children with rare diseases across 17 centers in Germany (children aged 8–21 years). ARFID symptoms were assessed using the Eating Disorder Examination Questionnaire for Youth (EDY-Q), collecting both self-reports (n = 169) and parent-reports (n = 502), with symptom presence determined by previously established diagnostic coding rules. Additional data collected included sociodemographic information, rare disease classification (based on Orphanet and Noeker systems), eating behavior pathology (ChEDE-Q8), health-related quality of life (DCGM-37), and mental health (YSR/CBCL). Data analysis used t-tests, Mann-Whitney U tests, Kruskal-Wallis H tests, and Pearson correlation analyses to compare the rare disease sample with normative data, examine differences between reporters and ARFID symptom subgroups, and assess associations between ARFID symptoms and other psychosocial variables.

Key Findings and Insights

• ARFID symptoms are highly prevalent among children and adolescents with rare diseases: 3.6% in self-reports and as high as 10.2% in parent-reports, suggesting parents may be more sensitive to detecting eating difficulties
• Compared to normative data, the rare disease group showed significantly higher self-reported rates on core ARFID symptoms such as 'selective eating,' 'avoidance of new foods,' and 'sensory avoidance,' indicating a specific risk for disordered eating behaviors in this population
• Although differences exist across rare disease subgroups (e.g., children with chronic inflammatory, respiratory, or metabolic conditions show more prominent symptoms in parent-reports), overall, the presence of ARFID symptoms is not significantly associated with disease severity (e.g., progressive or permanent disability), suggesting ARFID may be broadly present across various rare diseases
• Regardless of reporting method, ARFID symptoms are significantly associated with reduced health-related quality of life (HRQoL) and poorer mental health, indicating a substantial negative impact on overall well-being
• ARFID symptoms show no significant association with age or gender, and self-reported eating pathology (e.g., concerns about weight or body shape) is not elevated, consistent with the non-body-image-driven nature of ARFID
• Agreement between self- and parent-reports on ARFID symptoms is only moderate (ICC = 0.532), highlighting the need for multi-informant assessment in clinical practice

Research Significance and Outlook

This study is the first to quantify the prevalence of ARFID symptoms across a broad pediatric rare disease population, revealing their high prevalence and significant impact on psychosocial functioning. It provides a crucial clinical message: when managing children with rare diseases, eating behavior problems should be systematically screened rather than simply attributed to the primary condition. The findings support integrating nutritional and psychological assessments into routine follow-ups for early detection and intervention.

Future research should use structured clinical interviews and medical record reviews to validate ARFID diagnoses and explore associations with specific genetic variants, neurodevelopmental comorbidities, or long-term nutritional interventions (e.g., tube feeding). Additionally, developing ARFID screening tools adapted to rare disease contexts and testing the efficacy of family-based interventions (e.g., CBT, behavioral therapy) will be important translational directions. This study provides new evidence for understanding the complex mind-body interactions in children with rare diseases, advancing toward more integrated, patient-centered care models.

 

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Conclusion

This study systematically evaluated the prevalence characteristics of avoidant/restrictive food intake disorder (ARFID) symptoms in children and adolescents with rare diseases and their impact on health-related quality of life and mental health. The findings reveal that ARFID symptoms are widespread in this population, with prevalence rates significantly higher than in typically developing children, and parent-reported detection rates substantially exceeding self-reports, underscoring the importance of integrating multiple sources of information in clinical assessment. Regardless of reporting method, ARFID symptoms are significantly associated with lower quality of life and poorer mental health, highlighting their negative impact on overall well-being. Notably, these associations are independent of the severity of the rare disease, indicating that ARFID may be prevalent across various rare conditions and should not be overlooked. The results emphasize the importance of routinely screening for eating behavior problems in the clinical management of rare diseases. Early identification of ARFID symptoms enables timely psychological and nutritional interventions, improving long-term outcomes. Future research should further explore the biological and psychosocial mechanisms of ARFID in the context of rare diseases and develop targeted prevention and treatment strategies to achieve more comprehensive patient care. This study provides critical evidence for understanding the complex clinical presentations of children with rare diseases and reinforces the necessity of interdisciplinary collaboration.

 

Johannes Boettcher, Thomas Lücke, Holger Zapf, Anja Hilbert, and Silke Wiegand-Grefe. Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases. Orphanet Journal of Rare Diseases.