I – Introduction:
A- Presentation of spina bifida:
Spina bifida is a birth defect of the central nervous system that affects the development of the spinal cord, spine, and the membranes that surround the brain and spinal cord. This malformation occurs when the neural tube of the fetus does not close properly during the first weeks of pregnancy, usually between the third and fourth week. Spina bifida can present in different forms, ranging from a mild form where the malformation is hidden under the skin, to a severe form where the spinal cord is exposed, increasing the risk of infections and nerve damage. This malformation can also affect other parts of the body, leading to medical complications such as hydrocephalus, a buildup of fluid in the brain. Although the exact causes of spina bifida are not yet fully known, there are certain risk factors such as maternal folic acid deficiency, family history or genetic disorders. Spina bifida is a complex disease that requires multidisciplinary care to help affected patients live as normal a life as possible.
B- Importance of the subject:The subject of spina bifida is of great importance both to sufferers and to society in general. Indeed, spina bifida is a disease that can have serious consequences on the health, well-being and quality of life of those affected, particularly with regard to their mobility, autonomy and social integration. Therefore, raising awareness about this disease is crucial to reduce stigma and encourage the inclusion of sufferers in society. It is also important to provide accurate information on the causes, symptoms, diagnosis and treatment of spina bifida, in order to improve management and the quality of care for patients. Finally, the prevention of spina bifida is a major public health issue, because it can reduce the number of cases of this disease. By highlighting the importance of the subject of spina bifida, it is hoped that patients will receive adequate support and that society will be more inclusive and better informed about this disease.
C- Objectives of the article:
The objective of this article is to provide accurate and up-to-date information on spina bifida, a congenital malformation that affects the central nervous system and which can have serious consequences on the health and quality of life of those affected. The article aims to raise awareness about this disease by providing a clear overview of spina bifida, its causes, symptoms and management. The article will also discuss the different types of spina bifida and their consequences for patients, as well as the treatment options available to help patients live as normal a life as possible. Finally, the article will focus on preventing spina bifida by providing information on risk factors and preventative measures such as folic acid supplementation. The objective of this article is therefore to provide patients with spina bifida, their families and healthcare professionals with reliable and useful information to improve the understanding of this disease and the quality of care provided to them.
II- Definition and types of spina bifida:
A- Definition of spina bifida:
Spina bifida is a birth defect that affects the development of the spine and spinal cord. This disease occurs when the neural tube of the fetus does not close properly during the first weeks of pregnancy, usually between the third and fourth week. Spina bifida can present in different forms, ranging from a mild form where the malformation is hidden under the skin, to a severe form where the spinal cord is exposed, increasing the risk of infections and nerve damage. This malformation can also affect other parts of the body, leading to medical complications such as hydrocephalus, a buildup of fluid in the brain. The exact causes of spina bifida are not yet fully known, but risk factors such as maternal folic acid insufficiency, family history or genetic disorders have been identified. Spina bifida is a complex disease that requires multidisciplinary care to help affected patients live as normal a life as possible.
B- Types of spina bifida (occult, meningocele, myelomeningocele):
Spina bifida can present in three main forms: occult, meningocele and myelomeningocele. The occult form is the most benign of the three, it is often asymptomatic and can go unnoticed, because the malformation is hidden under the skin. The meningocele form is a rarer form of spina bifida where a pocket filled with cerebrospinal fluid forms on the outside of the spine. This pocket contains protective membranes that surround the spinal cord, but the spinal cord itself is not in the pocket. This form of spina bifida can cause symptoms such as muscle weakness, loss of sensation, and incontinence. Finally, the most severe form is myelomeningocele, where the spinal cord and the nerves that emerge from it are exposed outside the body, through an opening in the spine. This form of spina bifida can cause a variety of symptoms such as lower limb paralysis, incontinence, loss of sensation, as well as medical complications such as hydrocephalus and infections. The different types of spina bifida require specific treatment approaches, depending on the severity and symptoms of each case.
C- Causes and risk factors:
The exact causes of spina bifida are not yet fully known, but risk factors have been identified. Studies have shown that maternal folic acid deficiency during pregnancy is one of the strongest risk factors for the development of spina bifida in the fetus. Folic acid is an essential B vitamin for neural tube development in the fetus. Getting enough folic acid before and during pregnancy can help reduce the risk of spina bifida. Other risk factors include a family history of spina bifida or other birth defects, as well as genetic disorders such as Down syndrome. Environmental factors such as maternal infections, exposure to certain chemicals and drugs, as well as alcohol and tobacco use during pregnancy have also been associated with an increased risk of spina bifida. Although the exact causes of spina bifida are not yet fully understood, preventive measures such as folic acid supplementation and proper prenatal care can help reduce the risk of spina bifida in the fetus.
III- Symptoms and diagnosis:
A- Symptoms of spina bifida according to the type:
Symptoms of spina bifida can vary depending on the type of deformity. In the mildest form, occult spina bifida, there may be no noticeable symptoms. In the meningocele form, a pocket filled with cerebrospinal fluid forms outside the spine, but the spinal cord itself is not in the pocket. This can cause pain and numbness, muscle weakness, and incontinence. In the most severe form, the myelomeningocele, the spinal cord and the nerves that emerge from it are exposed outside the body, leading to paralysis of the lower extremities, incontinence, loss of sensation and other medical complications such as hydrocephalus. Children with spina bifida may also have associated abnormalities such as hydrocephalus, Chiari malformation, scoliosis, and clubfeet. It is important to diagnose spina bifida as soon as possible, as early treatment can help minimize symptoms and associated complications. Prenatal tests and physical exams after birth can help detect the presence of spina bifida.
B- Diagnosis of spina bifida (prenatal examinations, ultrasound, MRI):
The diagnosis of spina bifida can be made before birth or shortly after birth. Prenatal tests such as maternal alpha-fetoprotein, ultrasound, MRI, and amniocentesis can help detect the presence of spina bifida in the fetus. Ultrasound is the most common test used to diagnose spina bifida. During an ultrasound, doctors examine images of internal organs, including the spine of the fetus. If a defect is found, an MRI can be done to get more detailed images. If spina bifida is diagnosed before birth, parents may have time to prepare a treatment plan and learn about any special care their child will need after birth. If spina bifida is diagnosed after birth, the baby will be examined by specialists to assess the extent of the malformation and the associated complications. Early diagnosis of spina bifida is important to enable early management and prevent serious complications.
IV- Treatment and care:
A- Medical care (surgery, medication):
Medical management of spina bifida may include surgery to close the defect and prevent complications. Surgery is often recommended in the first days or weeks of life for babies with myelomeningocele. Surgery can help prevent infections and other complications associated with exposed nerve tissue. In some cases, surgery may also be recommended to treat associated complications such as hydrocephalus, Chiari malformation, or to correct musculoskeletal abnormalities. In addition to surgery, medications may be prescribed to prevent infections, treat pain, improve bowel and bladder function, or treat other symptoms. Children with spina bifida may also benefit from physical therapy, occupational therapy, speech therapy, and other types of rehabilitation care to improve their quality of life and independence. The management of spina bifida requires a multidisciplinary approach, and patients and their families should work with a team of healthcare professionals to develop a treatment plan tailored to their specific needs.
B- Rehabilitation and follow-up (speech therapy, physiotherapy, occupational therapy):
Rehabilitation is an important part of spina bifida management because it can help improve the quality of life and independence of those affected. Speech therapy is often needed to help spina bifida patients who have speech and language problems, which may be due to breathing problems or partial paralysis. Physical therapy can help improve mobility and muscle function in patients with spina bifida, who may have problems with muscle strength, balance, and coordination. Occupational therapy can help improve self-help and daily living skills, helping patients learn skills such as dressing, grooming, preparing meals, and using assistive technology. In addition to these therapies, regular follow-up with healthcare professionals is essential to monitor overall health, motor function, and complications associated with spina bifida. Patients with spina bifida often need ongoing care throughout their lives, and comprehensive, multidisciplinary care can help improve their quality of life and reduce associated complications.
C- Help with daily living (technical aids, psychological support):
People with spina bifida can benefit from various technical aids to improve their quality of life and their autonomy. These aids can include braces to help support the lower limbs, wheelchairs to aid mobility, adaptive chairs to help manage posture and pressure issues, and other types of assistive technology to help compensate for physical deficits. People with spina bifida can also benefit from psychological support to help manage the emotions associated with the disease, improve self-esteem and strengthen social skills. Cognitive and behavioral therapies can help treat anxiety, depression or behavioral problems, and group therapy can provide social support and community for patients and their families. In summary, comprehensive management of spina bifida must include technical aids and psychological support to help patients overcome the physical and emotional challenges associated with the disease and improve their quality of life.
V- Consequences and prevention:
A- Consequences of spina bifida (disability, medical complications):
Spina bifida can have serious consequences for the health and well-being of those affected. Physical deficits can cause significant disability, affecting the ability to walk, move, bladder and bowel control, and lead an independent life. Patients with spina bifida can also develop medical complications such as urinary tract infections, skin problems from prolonged pressure, musculoskeletal disorders, and growth problems. Also, people with spina bifida are more likely to develop other health problems such as heart disease, kidney problems, and digestive problems. The long-term consequences of spina bifida can also have a significant psychological impact, including an increased risk of emotional disorders such as anxiety and depression. Early and comprehensive care is essential to help minimize complications and maximize quality of life for people with spina bifida.
B- Prevention of spina bifida (folic acid, screening):
The prevention of spina bifida is an important area of public health. Although spina bifida cannot be completely prevented, there are steps women can take to reduce the risk of giving birth to an affected baby. Folic acid, a B vitamin, has been shown to be effective in reducing the risk of spina bifida in newborns. Women who are pregnant or planning to become pregnant should take folic acid supplements, ideally before conception and throughout the first weeks of pregnancy. It is also recommended that women planning pregnancy see their doctor for early detection of spina bifida and other birth defects. Prenatal exams such as ultrasound and MRI can help diagnose spina bifida in the fetus, thus enabling early treatment and planning for a safe birth and appropriate management after birth. Awareness of spina bifida prevention is essential to help reduce the incidence of this congenital disease.
VI- Daily life with spina bifida:
A- Social and school life:
Children with spina bifida may have difficulty adjusting socially and academically due to their physical deficits and disability. Parents and educators can help by providing an inclusive learning environment, using assistive devices to facilitate access to information and activities, and encouraging children to participate in extracurricular activities that can boost their development. social and emotional. Special education programs can also be helpful for children with spina bifida by offering individualized education plans and providing support services, such as special teachers, guidance counsellors, therapists and specialists in assistive technology. Children with spina bifida can also benefit from attending support groups for children with disabilities, which can help them connect with other children and develop a positive self-image. The social and academic lives of children with spina bifida can be complex, but with the right support and planning, they can lead rich and fulfilling lives.
B- Professional life:
Adults with spina bifida may face challenges in employment, but with proper support and planning, they can find jobs that suit their abilities and skills. Employers can help by providing reasonable accommodations for employees with spina bifida, such as ergonomic adaptations for workstations, flexible work hours, and breaks for personal care. Adults with spina bifida can also benefit from job training and coaching to help them develop the skills needed to succeed in their field. Support organizations and disability advocacy groups can also offer advice and resources to help adults with spina bifida find jobs, negotiate salaries, and access support benefits. Although working life can be challenging for adults with spina bifida, it’s important to remember that success is possible with the right support and planning.
C- Emotional and sexual life:
People with spina bifida may experience emotional and sexual difficulties, particularly due to the physical challenges associated with their disability. Sensitivity and mobility issues can make certain sexual activities more difficult or even impossible, but there are ways to work around these obstacles. Advice and information on proper techniques can help improve the sexual experience. It’s also important for people with spina bifida to be comfortable with their own bodies and to communicate openly with their partner about their preferences and limitations. Disability-related emotional issues can also arise, including fear of not being liked or being judged because of one’s disability. In these situations, it may be helpful to seek support from friends, family members or mental health professionals. Ultimately, people with spina bifida have the right to lead fulfilling emotional and sexual lives, and with the right support and guidance, this is possible.
A- Summary of key points:
Spina bifida is a birth defect that affects the spine and spinal cord. There are several types of spina bifida, ranging from mild to severe, which can lead to paralysis. The causes of this malformation are still poorly understood, but it is established that taking folic acid during pregnancy can help prevent spina bifida. Treatments include surgery, medication, and rehabilitation with medical professionals such as physical therapists and speech therapists. People with spina bifida can also benefit from the use of technical aids and psychological support. Spina bifida can have consequences on the social, professional and emotional life of those affected, but with the right support and necessary adaptations, it is possible to live a satisfying life. Ultimately, awareness of this malformation, along with prevention and early treatment, are key to improving the quality of life for people with spina bifida.
B- Call for awareness and action:
The impact of spina bifida on the lives of those affected can be significant, but with the right care, many people with this birth defect can lead fulfilling lives. However, this requires awareness on the part of society and health professionals, as well as concerted action to offer the appropriate support and services. Prevention of spina bifida through folic acid supplementation and prenatal screening are important measures to reduce the incidence of this malformation. In addition, it is essential to provide easy access to quality healthcare services, including surgery, rehabilitation and technical aids. Governments, health professionals, patient associations and the general public have a crucial role to play in raising awareness and supporting people with spina bifida and their families. With a common commitment to facing the challenges of spina bifida, it is possible to make a positive difference in the lives of many people affected by this defect.
C- Hope for the future of people with spina bifida:
Despite the challenges faced by people with spina bifida, there is hope for the future. Continuous advancements are being made in research into treatments and therapies, as well as assistive technologies that can help improve the quality of life of those affected. New surgical approaches are also being developed to help repair neural tube defects early in pregnancy. Additionally, there is a growing awareness of the importance of raising awareness and building communities of support for people with spina bifida. Educational and informational initiatives are put in place to help people with Alzheimer’s to live independently and independently, reach their full potential and participate fully in society. With these developments, it is possible to continue to improve the quality of life for people with spina bifida and offer them hope for the future.