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Objectives To explore the participation of children with rare metabolic diseases and developmental delays, and associations with child-, family- and environment-related factors.Methods This cross-sectional study was conducted with children aged 2–8 years with rare metabolic diseases, who were followed at Ankara University Medical School, Department of Pediatrics, Developmental-Behavioral Pediatrics Division. Participation and environmental context were measured via a semi-structured, comprehensive interview based on the Expanded Guide for Monitoring Child Development. The Patient Health Questionnarie-4 (PHQ-4) was used to assess maternal depression and anxiety symptoms.Results The sample comprised 39 children (mean age 73 ± 27 months; 61.5% male), 46.2% had significant developmental delay in at least one domain. Nineteen children (48.7%) engaged in 10–20 minutes of daily interactive book reading, 13 (33.3%) had < 1 day/week visits with friends or relatives, and 20 (51.3%) participated in physical activity ≥ 1 day/week, 22 (56.4%) exhibited an increase in screen time exceeding the American Academy of Pediatrics recommendations. Maternal employment was associated with more frequent interactive book reading (OR = 7.12; 95% CI = 1.01–50.09, p = 0.049). Maternal depression and anxiety symptoms (scoring ≥ 3 on the PHQ-4) were associated with reduced book reading (OR = 0.04; 95% CI = 0.01–0.30, p = 0.001) and limited social interactions (OR = 4.25; 95% CI = 1.02–17.73, p = 0.047).Conclusions International Classification of Functioning, Disability and Health (ICF)-based clinical, research and advocacy strategies are needed to promote participation for the children with rare metabolic diseases. Our results showed that signs of maternal psychosocial conditions significantly shaped participation in life for children with rare metabolic diseases.