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Understanding the Long-term Psychosocial and Health Care Needs of Adults With Congenital Colorectal and Pelvic Malformations.

Source: PubMed, NCBI / U.S. National Library of Medicine

Diseases of the colon and rectumBilgili U Zeynep, Ore Ana Sofia, Canizares Stalin, et al.Published 12/1/2025Last synced 7/21/2026Status: syncedPMID: 40919720DOI: 10.1097/DCR.0000000000003951

Individuals born with anorectal and pelvic malformations require lifelong management. Although initially cared for by pediatric providers, these conditions continue to impact patients' health and quality of life into adulthood. To assess the prevalence of psychiatric disorders and substance use among adults with congenital colorectal and pelvic malformations, and to explore their distribution across demographic and clinical variables. Single-center retrospective cohort study. Academic tertiary-care hospital in the United States. Adults aged 18 years or older with a diagnosis of Hirschsprung disease, anorectal malformations, cloacal deformities, or VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, limb) association, identified through International Classification of Diseases, 9th and 10th Revision codes. Prevalence of psychiatric diagnoses (depression and/or anxiety) and substance use disorders, and their associations with demographic and clinical characteristics. A total of 81 patients were included. The median age was 47.0 years (interquartile range, 38.0-64.0), and 44.4% were men. A psychiatric diagnosis was documented in 51.9% of patients, and 30.9% had a history of substance use disorder. Among those with a psychiatric diagnosis, 28.6% also had documented substance use. Substance use was significantly more prevalent among patients with psychiatric conditions compared to those without (40.5% vs 20.5%, p = 0.002). Retrospective design, small sample size, and reli

Abstract

Individuals born with anorectal and pelvic malformations require lifelong management. Although initially cared for by pediatric providers, these conditions continue to impact patients' health and quality of life into adulthood. To assess the prevalence of psychiatric disorders and substance use among adults with congenital colorectal and pelvic malformations, and to explore their distribution across demographic and clinical variables. Single-center retrospective cohort study. Academic tertiary-care hospital in the United States. Adults aged 18 years or older with a diagnosis of Hirschsprung disease, anorectal malformations, cloacal deformities, or VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, limb) association, identified through International Classification of Diseases, 9th and 10th Revision codes. Prevalence of psychiatric diagnoses (depression and/or anxiety) and substance use disorders, and their associations with demographic and clinical characteristics. A total of 81 patients were included. The median age was 47.0 years (interquartile range, 38.0-64.0), and 44.4% were men. A psychiatric diagnosis was documented in 51.9% of patients, and 30.9% had a history of substance use disorder. Among those with a psychiatric diagnosis, 28.6% also had documented substance use. Substance use was significantly more prevalent among patients with psychiatric conditions compared to those without (40.5% vs 20.5%, p = 0.002). Retrospective design, small sample size, and reliance on provider-documented diagnoses, which may underestimate the true prevalence. Adults with congenital colorectal and pelvic malformations demonstrate a high burden of psychiatric disorders and substance use. These findings highlight the need for multidisciplinary care models that incorporate mental health services into the long-term management of this growing patient population, starting from pediatric care and continuing through adult transitions. See Video Abstract . ANTECEDENTES:Las personas que nacen con malformaciones anorrectales y pélvicas requieren un tratamiento de por vida. Aunque inicialmente son atendidas por pediatras, estas afecciones siguen afectando a la salud y la calidad de vida de los pacientes hasta la edad adulta.OBJETIVO:Evaluar la prevalencia de los trastornos psiquiátricos y el consumo de sustancias entre los adultos con malformaciones congénitas colorrectales y pélvicas, y explorar su distribución en función de variables demográficas y clínicas.DISEÑO:Estudio de cohorte retrospectivo en un único centro.ENTORNO:Hospital universitario terciario en los Estados Unidos.PACIENTES:Adultos de 18 años o más con diagnóstico de enfermedad de Hirschsprung, malformaciones anorrectales, deformidades cloacales o asociación VACTERL, identificados mediante los códigos de la Clasificación Internacional de Enfermedades, Novena y Décima Revisión (CIE-9 y CIE-10).PRINCIPALES MEDIDAS DE RESULTADO:Prevalencia de diagnósticos psiquiátricos (depresión y/o ansiedad) y trastornos por consumo de sustancias, y sus asociaciones con características demográficas y clínicas.RESULTADOS:Se incluyó a un total de 81 pacientes. La mediana de edad fue de 47,0 años (rango intercuartílico, 38,0-64,0), y el 44,4 % eran hombres. Se documentó un diagnóstico psiquiátrico en el 51,9 % de los pacientes, y el 30,9 % tenía antecedentes de trastorno por consumo de sustancias. Entre los que tenían un diagnóstico psiquiátrico, el 28,6 % también tenía documentado el consumo de sustancias. El consumo de sustancias era significativamente más prevalente entre los pacientes con trastornos psiquiátricos en comparación con los que no los tenían (40,5 % frente a 20,5 %, p = 0,002).LIMITACIONES:Diseño retrospectivo, tamaño reducido de la muestra y dependencia de los diagnósticos documentados por los proveedores, lo que puede subestimar la prevalencia real.CONCLUSIONES:Los adultos con malformaciones congénitas colorrectales y pélvicas presentan una elevada carga de trastornos psiquiátricos y consumo de sustancias. Estos hallazgos ponen de relieve la necesidad de modelos de atención multidisciplinarios que incorporen los servicios de salud mental en el tratamiento a largo plazo de esta población de pacientes en crecimiento, comenzando por la atención pediátrica y continuando durante la transición a la edad adulta. (AI-generated translation ).

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