Neurodevelopmental outcome of patients with congenital gastrointestinal malformations: a systematic review and meta-analysis.

AIM: Children with congenital gastrointestinal malformations may be at risk of neurodevelopmental impairment due to challenges to the developing brain, including perioperative haemodynamic changes, exposure to anaesthetics and postoperative inflammatory influences. This study aggregates existing evidence on neurodevelopmental outcome in these patients using meta-analysis. METHOD: PubMed, Embase and Web of Science were searched for peer-reviewed articles published until October 2019. Out of the 5316 unique articles that were identified, 47 studies met the inclusion criteria and were included. Standardised mean differences (Cohen's d) between cognitive, motor and language outcome of patients with congenital gastrointestinal malformations and normative data (39 studies) or the studies' control group (8 studies) were aggregated across studies using random-effects meta-analysis. The value of (clinical) moderators was studied using meta-regression and diagnostic subgroups were compared. RESULTS: The 47 included studies encompassed 62 cohorts, representing 2312 patients. Children with congenital gastrointestinal malformations had small-sized cognitive impairment (d=-0.435, p<0.001; 95% CI -0.567 to -0.302), medium-sized motor impairment (d=-0.610, p<0.001; 95% CI -0.769 to -0.451) and medium-sized language impairment (d=-0.670, p<0.001; 95% CI -0.914 to -0.425). Patients with short bowel syndrome had worse motor outcome. Neurodevelopmental outcome was related to the number of surgeries and length of total hospital stay, while no relations were observed with gestational age, birth weight, age and sex. INTERPRETATION: This study shows that children with congenital gastrointestinal malformations exhibit impairments in neurodevelopmental outcome, highlighting the need for routine screening of neurodevelopment during follow-up.

[A discussion group for parents of children with a digestive stoma]. / Un groupe de parole pour les parents de nouveau-nés porteurs d'une stomie digestive.

When a pathology is diagnosed at the birth of a child, the parents are confronted with an overwhelming life ordeal they have to face. A discussion group for these mothers and fathers of newborn babies who have needed a digestive stoma allows them to discuss their daily lives and share common concerns, to be reassured by the difficulties encountered, to gain confidence in the care provided and to project themselves into the future more serenely.

Psychosocial and cognitive consequences of major neonatal surgery.

PURPOSE: To evaluate the long-term quality of life (QOL) of patients who had undergone major neonatal surgery, the psychosocial and cognitive consequences of neonatal surgical stress were assessed when the patients reached school age. MATERIALS AND METHODS: Seventy-two patients who had undergone major neonatal surgery were enrolled in this study. Their primary diseases were anorectal malformation (ARM) in 27 cases, esophageal atresia (EA) in 23, and congenital diaphragmatic hernia (CDH) in 22. Intelligence tests using Wechsler Intelligence Scale for Children III (WISC-III) or a developmental test and the Child Behavior Checklist were conducted through questionnaires and interviews with clinical psychologists. RESULTS: Mental retardation (MR) was apparent in 25% of EA, 20% of ARM, and 18% of CDH, significantly higher than the 2% to 3% commonly found in the general population. The clinical range (CR) of the Child Behavior Checklist was seen in 35% of EA, 59% of ARM, and 38% of CDH, which is also significantly higher than the 25% typically seen in the general population. No significant differences in MR and CR were seen among the primary diseases. The most important factors influencing MR and CR remain to be identified. CONCLUSIONS: To ensure true quality of life after neonatal surgical stress, pediatric surgeons must consider not only physical assessments but also cognitive, emotional, and psychosocial assessments.

Disease-specific quality of life in children and adults with anorectal malformations.

PURPOSE: The aim of the present study was to analyze disease-specific quality of life, as assessed by the Hirsch-sprung Disease/Anorectal Malformation Quality of Life (HAQL) questionnaire, in children and adults with ano-rectal malformations (ARM). METHODS: As much as 175 children and 62 adults who were members of the Italian Association for Anorectal Malformations were asked to complete the Italian version of the HAQL questionnaire developed for this study. For children under 16 years of age, mothers were asked to fill up the questionnaires. Patients were also asked to identify their type of malformation from a list of eight choices. RESULTS: Most subscales of the Italian HAQL had acceptable reliability. Compared to children, adults reported significantly lower levels of QL on subscales measuring emotional functioning, body image, and physical symptoms. CONCLUSIONS: Longitudinal studies are needed to clarify whether these results can be attributed to improvements in surgical techniques that have contributed to improved QL in younger cohorts, or if, instead, quality of life in patients with ARM decreases over time. Intervention efforts should focus on bowel management and psychological treatment for ARM-related emotional and body image distress.

Prospective evaluation of comorbidity and psychosocial need in children and adolescents with anorectal malformation. Part one: paediatric surgical evaluation and treatment of defecating disorder.

INTRODUCTION: Anorectal malformations represent a continuing challenge for the paediatric surgeon. Faecal and urinary incontinence can occur even with an excellent anatomic repair. We undertook a prospective evaluation of comorbidity and psychosocial needs in children and adolescents with anorectal malformation to test the hypothesis whether psychosocial workup in concert with an improved continence situation would lead to a better functional outcome in patients suffering from defecating disorders. Treatment of defecating disorder was based on differentiation between overflow pseudo-incontinence and true faecal incontinence. MATERIALS AND METHODS: Patients who presented with soiling regardless of the type of anomaly were included in the study: 44 patients were investigated, 14 patients did not meet the criteria of the study, 30 patients aged 4-18 were evaluated. The surgical diagnostic program comprised a careful clinical history, physical examination, exact classification of the malformation, evaluation for associated defects, stool protocol. RESULTS: Patients were grouped in two different management programs according to their continence situation. Patients with pseudo-incontinence were treated with enemas, diet, anal hygiene, behavioural therapy and physiotherapy. Patients with true faecal incontinence were included in a bowel management program: 28 patients were free of symptoms of soiling after 3 days of hospital treatment and remained free of symptoms 6 months and 1 year later at re-evaluation. Two patients did not follow the therapeutic regime and therefore did not show an improved condition concerning soiling in the long run. CONCLUSION: Differentiating between overflow pseudo-incontinence and true faecal incontinence is the basis of an effective treatment of defecating disorders. All patients born with anorectal malformation can be kept clean of stool if they are subjected to an adequate treatment. A multidisciplinary approach is a valuable supplement to standard therapy.

Prospective evaluation of comorbidity and psychosocial need in children and adolescents with anorectal malformations. Part 2: evaluation of psychosocial need.

PURPOSE: Only a few patients with anorectal malformations (ARM) have satisfactory bowel functions. Studies of ARM have reported psychosocial problems in up to 73% of patients. The aim of the current study was to document the psychosocial needs of patients with ARM. METHODS: Between June 2004 and September 2005, 44 patients with ARM were treated; the sample included 30 patients (23 males and 7 females) aged 4-17. To focus on potential psychosocial strain, a comprehensive grading system with a sophisticated perspective of continence, associated malformations, number of surgical interventions and postoperative complications was introduced. For psychosocial screening, the following instruments were used: German "Basis-Dokumentation" (BADO), Impact on Family Scale (IFS), the Strengths and Difficulties Questionnaire (SDQ). All families assessed their own psychosocial needs. An extensive psychosocial programme was provided. RESULTS: Twenty-three patients were suffering severe burden according to the comprehensive grading system. Nearly half of the families reported increased financial stress, and one-third reported emotional or hyperactivity problems of the child. More than 70% confirmed psychosocial need. CONCLUSIONS: Paediatric surgeons should promote psychosocial support for all patients who suffer severe forms of ARM or its numerous associated malformations as well as for patients undergoing numerous surgical interventions or having many postoperative complications.

Self-efficacy, postoperative care satisfaction, body image and sexual functioning in ARM patients.

INTRODUCTION: Several studies indicate that self-efficacy may have profound positive effects on health promotion, clinical practice and other outcomes, like patients' satisfaction and quality of life. However no studies on self-efficacy have been conducted in anorectal malformation (ARM) patients. Aim of the present study is to analyze the relationships between self-efficacy and satisfaction with postoperative care in ARM patients or in their parents and between self-efficacy, body image and sexual functioning in adult ARM patients. MATERIAL AND METHODS: A total of 237 patients from 2 to 49 years old (mean age = 13.35 years old) participated in the study. Questionnaires were sent to members of the Italian Association for Anorectal Malformation (AIMAR) by ordinary mail. All subjects were asked to fill in the AIMAR questionnaire in which information about the perceived severity of malformation and postoperative care satisfaction were collected. For patients under 16 years old, parents were asked to fill in a questionnaire and a parent self-efficacy scale concerning the perceived ability to overcome possible difficulties related to ARM. Participants above 16 years of age were asked to fill in the questionnaire, a self-efficacy scale and some body image and sexual functioning items. RESULTS: The main findings indicate that those patients who feel more efficacious are those who feel less embarrassed and shame about their body, feel less frequently unsatisfied of their body and their physical condition, and have the perception to be less limited in their sexual activities. Considering patients under 16 years old, results indicate that more parents feel efficacious, the more they are satisfied of the postoperative care, especially of some health care providers. CONCLUSIONS: In ARM patients self-efficacy and parents self efficacy are correlated to important outcomes, respectively body image and sexual functioning in adults and postoperative care satisfaction in parents of those under 16 years old. Future longitudinal studies are needed to evaluate causal relations between the concepts considered.

Postoperative psychological status of children with anorectal malformations.

Our purpose was to clarify factors that influence the level of depression of Japanese children with anorectal malformations (ARM). The subjects comprised 66 children with ARM, aged 0-16 years, and their mothers. Patients were divided into three groups (Group 1: aged 0-5 years, Group 2: 6-11 years, and Group 3: 12-16 years). The level of depression of the children aged 6-16 years was investigated by Kovac's children's depression inventory (CDI). The psychological status of their mothers was assessed by Spielberger's state-trait anxiety index (STAI) and Zung's self-rating depression scale (SDS). The classification of ARM and the clinical condition were also investigated. Defecation scores were assigned for the degree of bowel dysfunction. The level of depression in the patients was more marked in Group 3 than in Group 2 according to the CDI score. Significant correlations between the CDI score of the child and the STAI-1, STAI-2 and SDS scores of the mother were observed in Group 2, but not in Group 3. In Group 2, the STAI-1 score of the mothers was significantly influenced by the degree of bowel dysfunction in her child. In Group 3, the CDI score was significantly correlated with the constipation score. This study revealed that bowel dysfunction is the important factor that influences the level of depression of the children with ARM. In the period of childhood during which the child attends primary school, bowel dysfunction indirectly influences the level of depression of children through the psychological status of mothers. However, bowel dysfunction directly influences the level of depression of children in adolescent patients.

Long-term outcome of anorectal malformations: the patient perspective.

To assess the long-term outcome of surgery for anorectal malformations (ARM) from the patient's perspective. One hundred and sixty seven children were operated for ARM between 1982 and 2000. Disease impact questionnaires to assess both clinical and psychological outcomes were sent to 137 eligible families. Statistical analysis was performed using SPSS version 11.5. The response rate was 61% (n=84). Sixty six percent had soiling. There was no significant difference in the incidence of soiling between genders or between the younger child and adolescent. Soiling was significantly increased in high (86%) and intermediate (79%) compared to low (43%) malformation (P=0.001). Constipation was seen in 62% and abdominal pain in 49%, with no significant difference between malformation levels. Overall, 71% had associated anomalies. Although 44% had a documented urological abnormality, clinical significant problems were seen in only 30%. Eighty percent of the children had one or more behavioural problems and 15% expressed suicidal thoughts. ARM had a negative impact on the social life of the child in 52% and on family functioning in 50%. Soiling (P=0.000), presence of associated anomalies (P=0.001), constipation (P=0.005), level of ARM (P=0.015) and abdominal pain (P=0.039) correlated significantly with psychosocial morbidity. Despite these findings, 62% of adolescents and 71% of children below 12 years with their parents reported above average global hopefulness score, remaining hopeful for the future. Children with ARM have ongoing physical and social morbidity, indicating the need for continuing multidisciplinary review and support to optimise their quality of life.

Long-term outcomes of anorectal malformations.

Anorectal malformations (ARMs) and cloacal anomalies are rare and complex malformations of the lower gastrointestinal and genitourinary tracts. They affect approximately 1 in 3,500 live births. The treatment of these patients has traditionally focused on achieving urinary and faecal continence, with preservation of renal function. With improved surgical techniques and paediatric intensive care facilities, these patients now live relatively normal lives, with a near-normal life expectancy. Comparing results reported by different surgeons is difficult because a wide range of terminology is employed to describe the anomalies encountered. This paper attempts to simplify some of the reported outcomes of bowel function to allow a more direct comparison between groups. Urinary outcomes were not so easily comparable due to the disparity in assessing patient outcomes. Therefore, before a global analysis of all groups can take place, a standardised terminology will be necessary. At present there is a gap in the published literature of comprehensive follow-up in this group of patients, particularly regarding reproductive and sexual functioning. More detailed information on long-term outcomes is needed in these patients to facilitate informed decision-making by the primary physician (usually the paediatric surgeon) and the parents on behalf of their child.

Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung's disease.

OBJECTIVES: The first objective was to compare the quality of life of adult patients with anorectal malformations (ARM) or Hirschsprung's disease (HD) and to compare both groups with healthy people. And the second objective was to examine the factors that affect the quality of life of patients with ARM or HD, using a theoretical model in which patients' background characteristics explain quality of life via mediating disease-specific functioning and psychosocial functioning. METHODS: Three hundred and forty-one patients completed a questionnaire, which assessed sociodemographic characteristics, disease-specific and psychosocial functioning, and quality of life. Clinical factors were extracted from the medical records. RESULTS: Patients with ARM or Hirschsprung's disease did not differ in their quality of life. Compared to healthy people, both patient groups reported more limitations in their "overall" physical quality of life, but only patients with ARM reported impaired quality of life on several specific domains (e.g., physical role-functioning, pain). The model was largely accepted. Most striking were the strong effects of the psychosocial functioning factors in contrast to weak effects of the disease-specific "constipation" and "fecal continence" factors. CONCLUSIONS: The quality of life of patients with ARM or Hirschsprung's disease was found to be comparable. Compared to healthy people, both patient groups encountered "overall" physical health problems, but only patients with ARM reported additional pain and limitations in role functioning due to physical problems. It appeared that psychosocial functioning had the most important effect on the quality of life of patients with ARM or Hirschsprung's disease, while fecal incontinence and constipation had almost no effect on their quality of life.

Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth.

BACKGROUND: Cloacal exstrophy is a rare, complex defect of the entire pelvis and its contents that occurs during embryogenesis and is associated with severe phallic inadequacy or phallic absence in genetic males. For about 25 years, neonatal assignment to female sex has been advocated for affected males to overcome the issue of phallic inadequacy, but data on outcome remain sparse. METHODS: We assessed all 16 genetic males in our cloacal-exstrophy clinic at the ages of 5 to 16 years. Fourteen underwent neonatal assignment to female sex socially, legally, and surgically; the parents of the remaining two refused to do so. Detailed questionnaires extensively evaluated the development of sexual role and identity, as defined by the subjects' persistent declarations of their sex. RESULTS: Eight of the 14 subjects assigned to female sex declared themselves male during the course of this study, whereas the 2 raised as males remained male. Subjects could be grouped according to their stated sexual identity. Five subjects were living as females; three were living with unclear sexual identity, although two of the three had declared themselves male; and eight were living as males, six of whom had reassigned themselves to male sex. All 16 subjects had moderate-to-marked interests and attitudes that were considered typical of males. Follow-up ranged from 34 to 98 months. CONCLUSIONS: Routine neonatal assignment of genetic males to female sex because of severe phallic inadequacy can result in unpredictable sexual identification. Clinical interventions in such children should be reexamined in the light of these findings.

Malformaciones anorrectales: estrategias psicoprofilácticas en la asistencia integral temprana / Anorectal malformations: psychoprophylactic strategies in early treatment

A pesar de los adelantos significativos en el tratamiento de las malformaciones anorrectales (M.A.R.) una proporción de estos pacientes tiene problemas a largo plazo de continencia fecal y en consecuencia dificultades psicológicas y de inserción social. Esta comunicación tiene como objetivo describir la experiencia del funcionamiento de un equipo interdisciplinario en relación al procedimiento de Peña, desde 1989 hasta la fecha y las estrategias psicoprofilácticas en la asistencia de 34 familiares de niños con M.A.R. Las edades de los pacientes al inicio del tratamiento oscilaban entre los dos meses y 12 años y se efectuó un seguimiento de 2 a 4 años de cada uno de ellos. El nacimiento de un niño portador de un M.A.R. u otra malformación congénita, provoca un impacto afectivo en el grupo familiar y por el compromiso orgánico importante que representa, es posible que los aspectos psicosociales estén comprometidos. De esta manera, en caracter preventivo es importante un abordaje integral de estos pacientes. Este modelo de asistencia integral y el uso de estrategias psicoprofilácticas contribuyen a potenciar la eficacia de los resultados con respecto a la continencia fecal y la inserción social de cada paciente. La evaluación de la experiencia realizada ha sido satisfactoria. Este enfoque de tarea implica una visión transdisciplinaria de los problemas por parte de los integrantes del equipo de salud, a los efectos de promover una mejor calidad de vida del niño y su familia