Bladder exstrophy and epispadias

Bladder exstrophy and epispadias are congenital malformations of the urinary bladder, urethra, and external genitals. The cause is unknown. The malformation is more common in boys than in girls. In Norway, 1-3 children are born per year with bladder exstrophy, and a few more with epispadias.

 

In epispadias the urethra is not properly closed. In boys, the urethra is a groove on the upper side of the penis. The penis is flatter, shorter, and broader than normal. The length of the open urethra may vary, the opening may be anywhere between the upper surface of the glans and right in at the base of the penis, a complete epispadias. In girls, the clitoris is divided, the labia diverge, and the urethra is open to a varying degree. The degree of epispadias can vary from an almost invisible defect to complete epispadias. The sphincter muscle that prevents leakage of urine may be defective or non-functional in both boys and girls, and the degree of function depends on how much the cleft affects the bladder neck region and the sphincter muscle. Control of urination will therefore vary from full control to complete inability to retain urine.

In bladder exstrophy there is a defect of the abdominal wall which causes the urinary bladder to be open with the mucous membrane turned outwards. The pelvis is open in front. The whole urethra is open as in complete epispadias. The external genitals and anus are pulled slightly further forward than normal. In girls, parts of the labia may be lacking. The bladder rudiment varies in size, which is of great importance in the treatment. In bladder exstrophy and epispadias, the development of the internal genitals is normal in both boys and girls. The upper urinary tract is normal at birth. Epispadias can be present without bladder exstrophy, but not bladder exstrophy without epispadias.

 

Surgical treatment

Pursuant to The Regulation relating to National and Regional Functions of April 5 1991, Circular I-16/95, all neonatal surgery takes place at The National Hospital and Trondheim Regional Hospital.

Epispadias

Surgical correction is carried out at the age of 2 years. In boys, the urethra is reconstructed. This is done by bending the penis down. In girls the labia and clitoris are corrected.

Bladder exstrophy

The urinary bladder and the opening in the abdominal wall are closed. The pelvis is stitched together in front. This operation should preferably be carried out during the first day of life, while the pelvis is still elastic. Reconstruction of the urethra and correction of the external genitals is done later.

 

New route for urine

In children who are not able to control urination, it may be advisable to make a new route for urine by establishing a urostomy (urine is led out through an opening in the abdominal wall). This will mean that there is a continuous stream of urine out into a recipient container, and this flow cannot be controlled. The timing of this operation varies, but it is usually carried out at an age of two to four years. Another solution which is now being used in young people and adults is what is called a continent stoma: an internal collecting reservoir for urine is made with an opening through the abdominal wall. Urine will not leak from the reservoir. It is emptied regularly using a catheter. It is important that the advice of the family should be sought when deciding how to manage urination. In children who have some control over urination, surgical methods exist for making the bladder larger and for improving the closing mechanism, which may lead to better control in some cases. Before the child becomes a teenager, cosmetic operations may be needed.

 

Physiotherapy

Some children with bladder exstrophy suffer from weak pelvic floor musculature, poor balance, external rotation of the hips, wide-based waddling gait, long upper part of the back, pronounced lumbar lordosis, and poor tonus of abdominal muscles. Physiotherapy therefore becomes an important part of the follow-up. The physiotherapy department at Frambu Centre has developed exercises, for use in gymnastics, etc. Physical training will promote a good body image.

 

Medical follow-up

It is important that these children are followed up in the paediatric surgery department of the hospital treating them.

The degree of malformation and the risk of urinary tract infections make it essential to check the kidney function regularly – using x-ray examinations and blood tests. Urine samples are taken at regular intervals. It may be necessary to use anti-infective drugs to prevent infection. In adulthood, follow-up should be offered at the same hospital.

 

Psychosocial follow-up

Bladder exstrophy and epispadias are relatively large congenital malformations, which must be followed up from birth to adulthood. The malformation itself, the appearance of the external genitals, and the urinary leakage lead to practical and emotional problems. Problems with urination are taboo. Assessment of the child’s physical and mental adjustment at regular intervals is important, so that it is possible, at an early stage, to take measures and thus prevent psychosocial problems in both child and family. Psychosocial support should be an integral part of the follow-up at the paediatric surgery unit treating the child. The child should be followed up as a young person and up to adulthood.

 

Infancy

It is a great strain to be the parent of a newborn child with a malformation such as bladder exstrophy or epispadias. The staff of the paediatric ward should ensure that there is early contact between parents and child, as this seems to be specially important when the child has a handicap. Contact with a psychologist should be offered. The parents should be encouraged to put their feelings, expectations, and thoughts into words.

Contact with a social worker should be offered at the hospital so that information is given on financial rights, and help with applications is provided at an early stage. The contact should be maintained at subsequent admissions, even when the family is being followed up locally. It is important that the family is open about the disease in the local surroundings. Giving information to the local health services is an important part of the family’s adjustment. The health visitor/school nurse is a central figure in this phase, also when planning the follow-up.

 

Pre-school age group

If the child attends a kindergarten, it is important to inform the staff about the malformation and what it entails.

The pre-school period is important for building up independence, mastery, and self-esteem. Parents and health personnel must cooperate in making the child independent with regard to personal hygiene, whether there is a stoma, or a nappy has to be used. Practical details at home are important. The bathroom should contain plenty of cupboard space for stoma and other equipment, easy shower arrangements, etc. As it should be possible for the child to use the bathroom without being disturbed, it may be advisable that a separate bathroom is available. An application can be made for financial support to improve bathroom facilities.

 

School age

Good parent-child communications strengthen the child’s self-esteem. It is recommended that the class and the teachers are given information about the malformation and the child’s special needs. The child must help decide how this information should be given.

Parents and teachers should be on the lookout for signs of bullying. If needed, contact can be made with the school psychology service for advice and support. It must be emphasized that the child can take part in social activities. Nights away from home are often important during this period, and these should be made possible. The school should be contacted in plenty of time regarding practical arrangements, even a year or two before the child starts school. Installations and improvements often take a long time. An easily accessible toilet with a hand basin and a separate lockable cupboard are necessary in most cases.

 

Adolescence

It should be stressed that follow-up during adolescence and up to adulthood is important. In addition to a continuation of the challenges of childhood, youth has its own special problems. The malformation itself may affect body image and self-awareness in connection with contact with peers, participation in social life, as well as the onset of sexuality.

An open, accepting attitude by parents and other adults is important. Emphasis on positive characteristics and the young person’s own value will help develop positive self-esteem. Signals indicating development of anxiety, sadness, concentration problems, and withdrawal must be noticed, as it is important to prevent this development.

 

Adulthood

The kidney function of all adults with bladder exstrophy should be followed up. Most have a traditional urostomy, and a few have a continent stoma. The presence of a stoma in an adult and how this affects the individual will depend on background, personality, and personal circumstances. Neither the diagnosis itself nor the existence of a stoma need lead to any limitation of occupation, family life, or being able to have children.

 

Associations:

Norwegian Association for Bladder Exstrophy and Epispadias:
Contact person: Jan Erik Ruud, Rasmus Engers vei 3, 0956 Oslo.

Norilco. Norwegian Association for stoma patients:
Fr Nansens v. 12, 0369 Oslo.

 

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