【Health Lecture】Take you to know more about spina bifida

What is spina bifida?

Spina bifida, also known as incomplete closure of the spinal canal, is the most common congenital neural tube development defect. Neural tube development abnormalities are serious congenital defects caused by failure of neural closure in the early embryonic development, including anencephaly, spina bifida and encephalocele. Spina bifida is the most common phenotype of neural tube defects. Spina bifida occurs in the lumbar sacral region, accounting for 80.9% of spina bifida. In addition to urinary and bowel disorders, the most common complication of lumbar sacral spina bifida is ankle and foot deformities. Therefore, spina bifida is not a single disease, it includes a group of diseases with various clinical manifestations. The condition can be mild to have no symptoms for life, or it can be severe to face the threat of death at birth; it can be a simple sacral occult fissure, or it can be a combination of multiple types accompanied by serious complications such as urogenital tract or anal defects, heart malformations, and kidney malformations.

Why does spina bifida occur?

The cause of spina bifida is still unclear, but it may be related to genetic factors and external environment.

Genetic factors: People with a history of birth defects or family deformities are at increased risk.

Environmental factors: infection with cytomegalovirus, herpes simplex virus, rubella virus, toxoplasmosis, etc. during pregnancy; certain medications such as anti-epileptic drugs, antipsychotic drugs, etc.; exposure to large doses of X-rays and radium during embryonic development; malnutrition during pregnancy resulting in deficiencies in folic acid, vitamin A, protein, inositol, etc.; obesity in pregnant women combined with diabetes, hypertension, tobacco, alcohol, and severe mental stimulation are also risk factors.

How common is spina bifida?

The prevalence of spina bifida varies greatly among the population, with obvious regional differences. The incidence of spina bifida in live births worldwide is 0.047%. The incidence of spina bifida varies with folic acid intake, region, race and ethnicity. The prevalence of neural tube defects in the United States and many European countries is 0.05% to 0.08%; my country's hospital-based birth defect monitoring system shows that the incidence of neural tube defects in the perinatal period (28 weeks of pregnancy to 7 days after delivery) was 2.18/10,000 in 2015 and dropped to 1.45/10,000 in 2018. A study showed that the incidence of spina bifida in live births in areas where folic acid is mandatory is 33.86/100,000, while the incidence in areas where folic acid is taken voluntarily is as high as 48.35/100,000.

The incidence of neural tube defects in my country is 0.3%, and there is no accurate epidemiological survey data on spina bifida. According to local epidemiological survey data, the incidence of spina bifida in my country may be much higher than that in Europe and the United States. The estimated incidence of newborns is 1/1000, and the cumulative number of spina bifida patients exceeds 4 million. The incidence in the north is higher than that in the south, in rural areas than in cities, and in women than in men (female: male ratio is 1.5:1).

What are the symptoms and dangers of spina bifida?

Symptoms may become more pronounced as children get older and taller. They may include:

1. Abnormal skin signs: Local lumbar and sacral skin bulges, depressions, hirsutism, skin capillary hemangiomas, pigmentation, etc. are the most easily discovered clinical manifestations at birth.

2. Bowel and bladder dysfunction: neurogenic bladder, neurogenic rectum, constipation, enuresis, difficulty in defecation/urination, frequent urination, urgency, incomplete urination, incontinence, etc. Generally, after a period of abnormal bowel and bladder function, those who have the ability to complain can express low back pain or low back and leg pain.

3. Lower limb symptoms: numbness and weakness of the lower limbs, ankle deformities, and even sensory and motor dysfunction, atrophy, thinning, shortening, deformity, and even paralysis of the entire lower limb. The most common lower limb deformity is talipes equinovarus.

4. Associated deformities: scoliosis, congenital hip dislocation, hydrocephalic head enlargement, lower limb deformity, clubfoot, etc.

5. Other symptoms: sensory disturbance of perianal skin, male impotence, chills in lower limbs, and lack of sweating.

6. Complications: Later on, pressure sores and ulcers on the skin at stress-bearing sites (sole of foot, buttocks), osteomyelitis, etc. may occur.

How is spina bifida treated?

The treatment of neural tube developmental abnormalities such as spina bifida and tethered cord and their complications involves multidisciplinary collaboration in diagnosis and treatment, including neurosurgery, urology, orthopedics, spinal surgery, rehabilitation, and gastroenterology.

For open spina bifida, surgery should be performed immediately to close it. For closed spina bifida, the sooner the tethered cord is released, the better. For children with complications, the root cause should be treated first (tethered cord release surgery) and then the symptoms (urology, orthopedic surgery, rehabilitation treatment) should be treated.

How can spina bifida be prevented?

Take folic acid preparations under the guidance of a physician from 3 months before to 3 months after pregnancy, avoid possible risk factors, and prevent drug abuse; eat a reasonable diet, diversify food varieties, eat more green leafy vegetables and meat, fish, shrimp, and fresh fruits, and control weight appropriately; do appropriate physical exercise to improve the body's resistance and reduce viral infections; avoid contact with cats and dogs and eating uncooked meat to prevent toxoplasmosis infection; avoid heat exposure, avoid contact with radiation, pesticides or insecticides, organic solvents, ionizing radiation, etc. in early pregnancy; pregnant women maintain a good mood and avoid adverse mental stimulation; strengthen perinatal care, regular prenatal examinations, and screen for fetal abnormalities in early pregnancy.

Personal Profile:

He Yan, Master, is the head therapist of the Children's Physical Therapy (PT1) Department of the China Rehabilitation Research Center. She has been engaged in rehabilitation therapy for more than ten years and is good at exercise therapy for children's diseases such as cerebral palsy, developmental delay, brain trauma, and spinal cord injury. She is responsible for teaching undergraduate students majoring in rehabilitation therapy at Capital Medical University, teaching internships for undergraduate students majoring in rehabilitation therapy at Shandong University of Traditional Chinese Medicine, and teaching standardized training for rehabilitation physicians and rehabilitation therapists. She is a member of the Science Popularization and Health Education Working Committee of the China Medical Education Association, a member of the Physical Therapy Professional Committee of the Chinese Rehabilitation Medicine Association, and a member of the Rehabilitation Engineering Professional Committee of the Beijing Rehabilitation Medicine Association.