Spina bifida: key primary care issues

Spina bifida is a static congenital neural tube disorder resulting in continuing evolving disease involving multiple organ systems. Those affected require lifelong surveillance with coordinated management involving the patient, parents, general practitioners, neurologists, physiotherapists, occupational therapists, social workers, nurses, neurosurgeons, urologists, orthopaedic surgeons, physicians and other health professionals.

The term spina bifida is used throughout this manual to refer to all myelodysplasias unless specifically stated. Similarly, issues specific to hydrocephalus alone will be highlighted, although many of the issues relating to spina bifida are relevant.

Key issues for clinicians

Spina bifida - a severe congenital condition compatible with independent life
Spina bifida is a term used to describe a group of multiple complex congenital anomalies and abnormalities affecting development of the neural tube and related structures during the third and fourth week of pregnancy
(see Chapter 1 The spinal cord and brain in myelodysplasias for a more detailed overview of spina bifida and neural tube defects).
Spina bifida has been described as one of the most serious congenital conditions compatible with full life. Prior to antibiotic and surgical advances of the last half century, life expectancy was often less than a year. Improvements in the management of children, young people and adults with spina bifida, related myelodysplasias and hydrocephalus has meant that many are now not only surviving into adulthood, but live active and happy lives, which may involve working and having children.
Independent living for young people and adults - overcoming barriers
As more children with spina bifida reach adulthood, the special needs required to achieve and maintain independent living in the community are becoming more obvious and pressing.
Generalist clinicians who take a proactive role in detecting and overcoming the multiple problems facing young people and adults with spina bifida maximise their patients’ chances of achieving physical and social independence. The clinician achieves this by becoming familiar with the physical, psychological, sexual and social barriers that impact daily upon the lives of those with spina bifida, as well as their affected partners, families and friends.
Assess now - don’t wait until problems occur
Because the medical consequences of spina bifida are continually evolving, regular follow up is essential to prevent major problems before they occur.
Many people with spina bifida may not have attended a specialist centre for some time, and should be encouraged to attend for a routine assessment. Familiarity with the primary care management of young people and adults with spina bifida enables treating doctors to ensure that regular, thorough and appropriate health maintenance occurs.
The role of GPs and generalist health care providers
General practitioners can take a central role in the daily management of the young person or adult with spina bifida. As well as day to day treatment issues, the GP plays a major role in the early detection and referral of spina bifida related complications to treatment centres.

Locating referral clinics for young people and adults with spina bifida
Specialist clinics managing adults with spina bifida are a relatively recent development due to the increasing survival of children with spina bifida.
Children with spina bifida are managed in paediatric centres until adulthood, but upon reaching maturity may not establish contact with specialist treatment centres.
Paediatric centres can identify the location of adult spina bifida treatment centres, but many paediatric centres will treat adults with spina bifida if no other services are available.

Critical areas of primary care - physical and psychosocial
The management of young people and adults with spina bifida and related disabilities depends upon many factors, but is largely determined by the level of the spina bifida lesion and the presence of hydrocephalus, related central nervous system problems and urological dysfunction.
The nature and extent of complications can profoundly affect many body systems.
There are many psychosocial implications of spina bifida including personal, psychological, social and sexual issues.
Monitoring of physical conditions
While spina bifida is a multisystem condition, there are three main areas of functioning that require special ongoing surveillance:
• the neurological system
• the urological system
• the musculoskeletal system.
Neurological system
Ongoing assessment of the neurological system is mandatory. Any changes in neurological signs require immediate referral to a specialist centre.
While this may appear to be obvious, many individuals with spina bifida lose contact with specialist services on reaching adolescence and adulthood and may accept changing neurological function as an inevitable part of spina bifida. Always examine the nervous system as part the general patient review and look for changes in neurological signs.

Changes in lower limb neurological signs or continence can indicate the presence of a serious condition called tethered cord which can occur at any time of life (see Chapter 3 Spinal cord tethering). Clinicians managing patients with spina bifida need to be familiar with this condition.

The manifestations of a blocked ventriculoperitoneal shunt extends beyond headache and includes visual symptoms, confusion, somnolence, behavioural disturbances and incontinence.

Urological system
Although neural tube defects are neurological disorders, their impact on the urological system is responsible for a significant proportion of life threatening complications. As a consequence, an understanding of the detection and screening for urological abnormalities is central to an understanding of the management of spina bifida and related disorders.
In line with the urological management of spina bifida, attention to incontinence issues is central to the quality of life for all those with spina bifida.

Due to neurological involvement of the bladder, bladder control is commonly impaired. Not only does this greatly impact upon quality of life, but lack of bladder control can lead to major kidney damage through reflux and recurrent infection.
Urological complications are responsible for a large part of morbidity and mortality from spina bifida. These issues are fully covered in Chapter 4 Urological management of spina bifida.

Musculoskeletal system
Normal nerve development and function do not occur at or below the spinal cord level of the spina bifida lesion. Therefore, the higher the lesion, the higher the level of the paralysis. However, the pattern of muscle weakness will vary with each individual, depending upon the site and extent of the spinal defect.
Muscle groups on opposite sides of the body may not be equally affected, leading to orthopaedic abnormalities, ranging from scoliosis and dislocations to leg and foot problems. Lack of weight bearing can also result in an increased risk of fractures and progressive deformity.
Ongoing orthopaedic assessment and review helps to maximise function and minimise the impact of the disability.

Alarm bells for clinicians - some conditions require urgent referral
Clinicians also need to be aware of a number of important conditions that require more urgent referral to specialist centres. These conditions include:

These conditions are more fully explained in each section as indicated, and clinicians involved in the care of people with spina bifida should familiarise themselves with these possible serious complications.

Incontinence - a major barrier to independence
A major barrier to total independence is urinary and faecal incontinence.
Effective management of incontinence enables access to education, work and financial independence, socialisation and fulfilling relationships.
As well as preventing independence, poor incontinence management contributes to poor self esteem, which can discourage people from being active and social. Commonly reported feelings illustrate the personal impact of incontinence on self esteem: worry; dismay; embarrassment; guilt; fear; isolation; sadness; and frustration.
Monitoring psychosocial impact of spina bifida
Spina bifida can have a profound impact on body image and self esteem, and this can adversely affect the ability to form healthy relationships with family, friends, and partners. In addition, the common problem of incontinence can cause a further loss of self esteem.
This loss of self esteem not only interferes with a person’s independence, but can erode their ability to participate fully in education, employment and other aspects of daily life that come with living a modern, active life.
A supportive primary care clinician aware of these issues can help a patient overcome these issues and gain full participation in society.
Dealing with sexuality and reproductive issues is a routine part of managing spina bifida

Spina bifida affects the spinal cord and inevitably affects sexual functioning. Dealing with these issues is a routine part of the daily management of spina bifida.
As for those without spina bifida, sexuality and reproductive issues become increasingly important for young people as they reach adolescence and adulthood. However, children with spina bifida have often grown up being especially dependent upon their parents and the emergence of sexuality issues can be a source of conflict for the person, their family and carers. This is dealt with in Chapter 8 Sexuality and reproductive issues.

References
1. Hoeman P. Primary care for children with spina bifida. Nurse Pract. 1987; 22:60–72
2. Cornett J, Verpoorten C, Lagae L, Plets C, Van Calenbergh F, Casaer P. Closed spinal dysraphism: a review of diagnosis and treatment in infancy. Euro J Paediatr Neurol 1998;2(4):179–85.
3. Menelaus MB. The evolution of orthopaedic management of myelodysplasia. J Paediatr Orthop 1998; 18(4):421–422