Studies of pathophysiology and psychosocial functioning in adolescents with anorectal anomalies

Abstract

Introduction: Anorectal anomalies (ARA) are a range of congenital conditions ranging from a slight malposition of the anus to complex anomalies of the hindgut and urogenital organ. Despite advanced surgical and treatment modalities, voluntary bowel control is poor following surgical care with high rates of faecal incontinence (FI), and also constipation after all grades of reconstructive surgery. The main aim was to determine the impact that FI and constipation has on psychosocial functioning in the context of ARA in comparison to patients with idiopathic constipation (IC) and healthy controls. We also investigated the pathophysiological mechanisms that might contribute to poor bowel function in patients with ARA. Methods: Study comprised 52 patients (19 females; range 11-43 years) with ARA, 46 (13 females; range 11-31 years) IC and 51 healthy controls (26 females; range 11-42 years). Constipation and FI were evaluated using KESS and Vaizey scores respectively (a higher score indicating greater symptom severity). Psychometric tests included: Gastrointestinal Quality of Life Index, Children's Depression Inventory/Beck Depression Inventory, General Health Questionnaire-28, State-Trait Anxiety Inventory/Children, Pennebaker Inventory of Limbic Languidness, Big Five Inventory, Level of Hopefulness, Cognitive Emotion Regulation Questionnaire and Weinberger Attitude Inventory. Physiological investigations were undertaken in 32 adults, presenting with a history of previous surgery for ARA and urge FI. Physiological assessment included: anal manometry; rectal sensation (balloon distension); pudendal nerve function (motor latencies); endo-anal ultrasound; colonic transit and proctography. Results: Significantly higher KESS scores were found in patients with IC (<0.0001) compared to ARA and healthy controls and significantly higher Vaizey scores found in - 3 4 patients with ARA (<0.0001) and IC (0.0002) compared to healthy controls. Poorer GIQOL scores were found in patients with IC compared to healthy controls (p<0.001) and ARA compared to healthy controls (p<0.01). There was a significant relationship between poor quality of life and high KESS scores in ARA and IC (p = 0.003) and high Vaizey Incontinence scores (p = 0.02). Patients with ARA did not have higher psychiatric morbidity in comparison to IC and healthy controls. Personality traits and level of hopefulness appeared the same across the three groups. IC significantly put less emphasis on their general physical health (p<0.0001) in comparison to ARA and healthy controls. ARA significantly used more ‘positive reappraisal’ and ‘putting into perspective’ as their main coping mechanism compared to healthy controls. Anorectal physiology was abnormal in all subjects with ARA, involving multiple mechanisms. Anal resting tone and squeeze increments were attenuated in 23/32 and 17/32 patients respectively. Both anal sphincters were deficient on endosonography in the majority of patients with ARA. Evidence of pudendal neuropathy in 11/13 (85%) patients studied. Rectal sensation and emptying was abnormal in 17/22 (77%) and 9/14 patients (64%) respectively. Eight out of 17 patients had delayed colonic transit (47%). Conclusions: Symptoms of FI and constipation are major determinants for poor quality of life in patients with ARA. Contrary to our expectations, they share similar bowel and psychosocial functioning to patients with IC. Adolescents with ARA and IC had minimal psychiatric morbidity, yet experience condition-specific psychosocial problems affecting their daily life. The chronic nature of the patient’s problem appeared to have stimulated psychologically protective factors such as positive coping strategies. While the structural integrity of the anal sphincters is the major factor contributing to continence, this study confirms that extra-sphincteric mechanisms, particularly rectal sensory function, may be equally important.