Public Awareness about Neurological Birth Defects

CONGENITAL ANOMALIES OF BRAIN & SPINE ( BIRTH DEFECTS)

What is congenital anomaly?
Congenital anomalies are also known as developmental defects and are usually seen at the time of birth. So, it may also be called as birth defects. Connial anamalies may affect any part of the body of a child, like heart, brain, spine, gut, limbs, etc.

Hydrocephalus, encephalocele,  and spina bifida are common congenital neurosurgical problems. Hydrocephalus is due to increased collection of CSF in the brain. Encephaloceles are associated with abnormal herniation of brain tissue in the sac. Meningocoele or meningomyloceole are associated with defects in the vertebral column and present as swelling in the lower part of back with without weakness of the lower limbs. Sometimes congenital anomalies are part of syndrome and can be associated with abnormalities of other organs ar systems of body.

What causes congenital anomaly?

Maternal age is an important factor & when maternal age advances beyond 35 years the incidence of congenital anomaly increases significantly. Maternal fetal infection, alcohol consumption, cocaine abuse and consumption of certain teratogenic drugs as well as exposure to radiation during pregnancy may cause congenital anomaly. Some congenital anomalies are genetically inherited and have increased incidence in certain families.

What are the common symptoms of congenital anomalies?

Hydrocephalus  causes progressive enlargement of the head in a small child, and vomiting, seizure, headache, diminished vision in older children. Spine bifida can present as a swelling over the vertebral column.

   Meningomyelocele causes weakness of the limbs and difficulty in urination.

How to diagnose congenital anomaly?

¨      Antenatal diagnosis can be made by screening the mothers with high risk.

¨      X-ray ,CT scan and MRI help in diagnosis of congenital  neurosurgical  anomalies.

¨      Examination of the new born at birth, Congenital Hydrocephalis can be detected by antenatal ultrasound.

Can congenital anomalies be prevented?

All pregnant females should receive folic acid  during pregnancy & receive antenatal care.

If the first child is born with congenital CNS malformation, the incidence of such anomaly increases in subsequent pregnancies. In such females, the   preconception counseling should be done & folic acid should be started before planned pregnancy. Folic acid supplements decrease the incidence of neural tube defects.

Proper antenatal care, prevention of perinatal infections, ultrasound of pregnant mother can help in  early diagnosis and hence prevention of congenital anomaly.

Secondary prevention of congenital malformation is possible with the help of antenatal ultrasonography.

The further deterioration can be stopped by detection and treatment of hydrocephalus, chairi malformation, spina bifida, tethered cord syndrome, encephalocoele.

What are the treatment options for patients with congenital anomalies?

When detected well in time, hydrocephalus and spina bifida can be treated by neurosurgery. Various treatment options are endoscopic third ventriculostomy, ventriculoperitoneal shunting, excision and repair of meningocele or myelo meningocele, etc.

What are the Rehabilitation options?
Many children with congenital anomalies lead a normal life. Many cases of meningocele are excised and repaired without any neurological sequelae. Many cases of congenital anomalies do not require any corrective surgeries.
So, each child with any type if congenital anomaly should be thoroughly evaluated and a tailor made approach should be offered to each case.  

Neuro rehabilitation prevents the morbidity of the patients with congenital anomalies. Some children with congenital anomaly develop neurological deficit and require interventions like progressive graded activities to build strength and endurance.For some patients home modification for ADL independence and training in use of assistive and adaptive techniques may be helpful.