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The term neural tube defects (NTDs) or spina bifida refers to a diverse group of congenital malformations of the central nervous system that primarily affect the spinal cord and vertebral column. In the most severe cases, such as myelomeningocele and meningocele, there is a failure of the vertebral column to close, allowing the spinal cord to protrude externally (open defects). Milder forms, such as lipomas or lipomyelomeningocele, present as a soft mass covered by skin, a hairy lumbar patch, or may go unnoticed (closed defects). The most severe defects can be associated with other brain malformations, such as Chiari II malformation.
The cause of neural tube defects (NTDs) is unknown, but current evidence suggests that genetic predisposition combines with external factors. Some of these factors are recognized (such as valproic acid or methotrexate), but in most cases, they are related to a deficiency or interference in folic acid metabolism.
Administration of folic acid to women before conception has reduced the incidence of the malformation.
Prenatal diagnosis is usually performed via ultrasound. Since 2011, our hospital has applied an ultrasound-based technique, developed by rehabilitation doctors and obstetricians, that allows prenatal determination of the type and motor level of the fetus with spina bifida. This enables an individualized and reliable prognosis of the child’s motor and functional abilities.
Patients with myelomeningocele:
Patients with lipomas or lipomyelomeningocele:
The treatment of choice for open defects is prenatal surgical closure between 24–26 weeks of gestation, aiming to minimize sequelae from the malformation.
From birth, a child with spina bifida must be monitored in a specialized unit that guarantees their lifelong care and therapeutic needs. The multidisciplinary team should include obstetricians, pediatricians, neurosurgeons, urologists, orthopedic surgeons, pediatric surgeons, rehabilitation doctors, physiotherapists, occupational therapists, nurses, and orthotic technicians.
Treatment must be individualized, as different types of neural tube defects lead to different sequelae.
Basic objectives of NTD treatment:
The Spina Bifida Unit at our hospital has existed since the 1970s. It is the only unit in the area that can provide continuous care from birth throughout life, with the same team of professionals.
The rehabilitation doctor coordinates the unit, integrating the various therapeutic proposals to ensure they are realistic and achievable. This approach prevents unfeasible recommendations that could cause disappointment for families and suffering for the patient.
Treatment with the drug levodopa allows many of the functions deteriorated or lost due to the disease to be restored. It is the most effective treatment, but it also has limitations: as the disease progresses, its effect becomes transient and fluctuates. When the medication is working, the patient feels well, in the "On" state. When the effect wears off, the patient enters the "Off" state, and symptoms reappear.
To improve the effects of levodopa, different routes of administration have been investigated (inhaled, transdermal, intrajejunal) and various pharmaceutical formulations have been developed. Administration via gastrostomy with a levodopa gel infusion has been particularly successful.
There are also other pharmacological and neurosurgical treatments, such as electrical stimulation of specific brain areas, which provide good results. Research is ongoing to target the diseased brain using stereotactic ultrasound, avoiding trepanation and traditional surgery.
New avenues of research have opened in Parkinson’s disease to determine its causes, prevent its progression, and maximize symptom management.
Low-intensity physical exercise, practiced regularly and consistently—such as simply walking for half an hour to an hour each day—helps preserve automatic and semi-automatic motor functions.
Walking involves two aspects of movement: voluntary and automatic. The voluntary movement would be the act of taking steps, while others—such as arm swinging, foot placement when stepping, head and neck position, etc.—have an important involuntary component.
All body movements benefit from exercise. The motor abilities we all have, which seem easy and permanent, are not necessarily so. Certain movements—like touching the floor with your fingers while keeping your legs straight—can be lost over time if not practiced.
We need constant maintenance, perhaps of low intensity, but sustained over time, to enjoy the full potential of our bodies throughout life.
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