Children with low anorectal malformations and their parents : quality of life, physical and psychosocial function

Abstract

Anorectal malformations (ARM) are congenital anomalies affecting 1 in 3 000 births. The malformation varies from very minor to complex and can be divided in to low, intermediate, and high form of ARM. Children with a low ARM are primarily repaired in the newborn period. The children often have some degree of functional problems such as constipation and incontinence. Depending on the severity, laxatives and sometimes bowel irrigations are necessary to obtain and maintain an acceptable bowel function. Impaired bowel function might also lead to impaired Quality of Life (QoL) and poor psychosocial functioning.

The aim of this thesis was to assess QoL, bowel function and psychosocial function in children and adolescents with low ARM. The aim was also to investigate parenting stress in parents of children and adolescents with low ARM. An additional aim was to translate and culturally adapt the disease-specific QoL questionnaire Hirschsprung’s Disease/Anorectal malformation Quality of Life Questionnaire (HAQL) into Swedish. Forty-four children with low ARM born between 1993 and 2007 who had been operated on, were asked to participate along with their parents. Study I presented a methodological study design using a forward-back translation technique and cultural adaption of the translated HAQL. A pilot study with patients with Hirschsprung disease was also performed. The English version was not accurately translated, but the Swedish translation was found to correlate well with the original Dutch version.

In Study II, QoL and bowel function were assessed in children and adolescents with low ARM using a descriptive comparative design with a retrospective data collection using two questionnaires the: HAQL and Bowel Function Score (BFS). Seventeen patients and 18 mothers completed the HAQL. Twenty-seven families completed the BFS. Healthy controls with 17 children also completed the HAQL. The children showed impaired function in three HAQL domains when compared to controls. Compared with their mothers, they reported impaired physical function and more symptoms in the emotional functioning and physical symptom domains. Of the families who completed the BFS, 63% reported normal bowel function, 33% moderate function and 4% reported poor function. An evaluation of the HAQL of the Fecal Continence (FC), Emotional Functioning (EMF) and Physical Function (PH) domains showed no obvious conflicts.

Study III assessed psychosocial function in children and adolescents with low ARM using a descriptive comparative design using two questionnaires the Imperforate Anus Psychosocial Questionnaire (IAPSQ) and the Child Behavior Check List (CBCL). Sixteen children from the index group described completed the IAPSQ and 18 mothers from the index group completed the CBCL. A control group with 17 healthy children as well as an additional control group consisting of 25 children with intermediate and high ARMs completed the IAPSQ. Seventeen mothers from the control group of healthy children also completed the CBCL. The children with low ARM seemed to have good psychosocial function. When compared to the control group of children with high- and intermediate ARM, differences were found in one domain, Emotional/Cognition (COG), where the control group had lower function. The majority of the children and adolescents scored by their mothers in the CBCL were within normal range of the syndrome scale. In total, five children (33%) were scored within borderline or clinical range in one or several of the problem scores on the syndrome scale.

Study IV investigated parenting stress in parents of children and adolescents with low ARM using a sequential explanatory mixed-method design, including both quantitative and qualitative methods with questionnaires and interviews. Fifteen mothers and 13 fathers completed the Swedish Parenthood Stress Questionnaire (SPSQ) and, semi-structured interviews were performed with 9 parents from the index group. A control group consisting of the parents (17 mothers and 6 fathers) of healthy controls was used for comparison in the quantitative strand. There were no differences in stress between the index group and control group except for in one subscale; INCOMPETENCE, where the index group reported lower stress levels compared to controls. The interviews revealed three themes: Communication between parents, Expectations of parenthood, and Challenges concerning parenthood, where the parents told about early experiences of emotional stress with feelings of guilt and chaos at the time of birth and during infancy.