Long-term functional outcome and quality of life in patients with high imperforate anus

Hashish, Mohamed S.; Dawoud, Hamada H.; Hirschl, Ronald B.; Bruch, Steven W.; Batarny, Akram M. El; Mychaliska, George B.; Drongowski, Robert A.; Ehrlich, Peter F.; Hassaballa, Sayed Z.; El-Dosuky, Nagi I.; Teitelbaum, Daniel H.

doi:10.1016/j.jpedsurg.2009.10.041

Cited by 38 publications

(11 citation statements)

References 34 publications

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“…Similarly, studies in other populations (ie, patients with anorectal malformations, patients with Hirschsprung disease, and adult women) indicate that fecal incontinence is an insidious burden with substantial economic impact and adverse effects on quality of life. 43,[49][50][51][52][53][54] Our study shows that fecal incontinence has greater adverse effects on quality of life than functional constipation, and that this effect increases as children approach adolescence. The inability to control bowel movements may dramatically influence life as children age.…”

Section: Discussionmentioning

confidence: 60%

A Multicenter Study on Childhood Constipation and Fecal Incontinence: Effects on Quality of Life

Kovacic

Sood

Mugie

et al. 2015

The Journal of Pediatrics

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Section: Discussionmentioning

confidence: 60%

A Multicenter Study on Childhood Constipation and Fecal Incontinence: Effects on Quality of Life

Kovacic

Sood

Mugie

et al. 2015

The Journal of Pediatrics

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“…Several patients report complications such as severe constipation and intestinal blockage requiring hospitalizations. Functional stooling problems and poor quality of life persisted in many children treated for anorectal malformations, and quality of life may worsen with age [13]. Attention to these issues in adults with VACTERL association, as well as up-to-date knowledge of the continuously emerging surgical options for incontinence [5] and non-surgical options such as biofeedback therapy [42], may be helpful.…”

Section: Discussionmentioning

confidence: 99%

Long-term outcomes of adults with features of VACTERL association

Raam

Pineda-Álvarez

Hadley

et al. 2011

European Journal of Medical Genetics

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VACTERL association involves the presence of specific congenital, multi-organ malformations that tend to co-occur. Clinical and research efforts typically center on pediatric patients, and there is a scarcity of information in the literature regarding VACTERL-related issues and outcomes in adulthood. We describe here 11 adults with features of VACTERL association ascertained through our research study on the condition. In our cohort of adult patients, approximately 25% of medically significant malformations that are component features of VACTERL association, including 40% of vertebral, 50% of cardiac, and 50% of renal anomalies, were not identified during childhood. Additionally, medical sequelae of many of the primary malformations identified in infancy or early childhood persist or are first reported in adulthood. These sequelae can involve challenging medical and surgical management in adulthood. As most adults with VACTERL association are not specifically followed for VACTERL-related issues, a more uniform diagnostic work-up and a low threshold for investigation of medical sequelae of the primary disorder may enhance the quality of clinical management in these patients.

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“…All these issues cause major concerns for parents and children at school age and in later life, and pose a large social problem connected with acceptance of the population suffering from these problems. Clinical outcomes of ARM, such as functional stooling problems, are found to be directly associated with poor quality of life in ARM patients [2, 3]. These outcomes often deteriorate with age, which emphasizes the need for long-term follow-up and psychosocial treatment [2, 3].…”

Section: Introductionmentioning

confidence: 99%

“…Clinical outcomes of ARM, such as functional stooling problems, are found to be directly associated with poor quality of life in ARM patients [2, 3]. These outcomes often deteriorate with age, which emphasizes the need for long-term follow-up and psychosocial treatment [2, 3]. As experience concerning ARM is scattered in many different hospitals in most European countries [4], regional differences in clinical outcome and quality of life have been reported.…”

Section: Introductionmentioning

confidence: 99%

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

et al. 2010

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PurposeThe recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities.MethodsThe consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case–parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study. Questionnaires inquiring about circumstances before and during pregnancy will be used to obtain environmental risk factor data.ResultsCurrently, 701 ARM cases have been recruited throughout Europe. Clinical data are available from all cases, and DNA samples and questionnaire data mainly from the Dutch and German cases. Preliminary analyses on environmental risk factors in the Dutch and German cohort found associations between ARM and family history of ARM, fever during first trimester of pregnancy and maternal job exposure to cleaning agents and solvents.ConclusionFirst results show that both genetic and environmental factors may contribute to the multifactorial etiology of ARM. The International Consortium on Anorectal Malformations will provide possibilities to study and detect important genes and environmental risk factors for ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention.

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Long-term functional outcome and quality of life in patients with high imperforate anus

Cited by 38 publications

References 34 publications

A Multicenter Study on Childhood Constipation and Fecal Incontinence: Effects on Quality of Life

A Multicenter Study on Childhood Constipation and Fecal Incontinence: Effects on Quality of Life

Long-term outcomes of adults with features of VACTERL association

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

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