Neural Tube Defects

Question 1

Neural tube defects

Incidence and how are they diagnosed

Answer 1

1/1000
66% TOP 80% diagnosed ANC need URGENT referral to SB group
TOP legal to 20 weeks
May be seen 11-13 week uss or 18-20/52 uss >80% diagnosed ANC
Recurrence rate 1/20 decreasing incidence with folic acid fortification
DEVELOPMENTal congenital disorder
Caused by incomplete closure of the NT embryonic
Some vert not fully formed above this

Question 2

Spina bifida occulta and dimples

Answer 2

Common finding on X-ray of back 
10-20%
Rare to cause a problem 
No need to refer
Sacral dimples are common 
Ix if they are >2.5 cm above anus >5mm in size
Not midline 
Cutaneous stigmata
USS is ix of choice

Question 3

Causes of NTD

Answer 3

1 low folate 
Genetic multifactorial
Poverty
Malnutrition/anorexia 
Drugs change folate requirements eg Epirus

Question 4

Types of NTD

Answer 4

Anacephaly
Encephalocoele
SB with myelomeningocoele 
Meningocoele 
Myeloshcosis 
SB occultation

Question 5

Folic acid

Answer 5

Water soluble vit b
Decreases the incidence of SB
General population 50% decrease 0.5mg/day
At risk 70% decrease 5mg per day

Question 6

Planning the delivery of child with SB

Answer 6

Usually full term
Vaginal delivery
Family prep 2-3 week stay in hospital

Question 7

Improve the quality of life

Answer 7

Treat the hydrocephalus neurosurgical team hydrocephalus/retethering
Treat the neurogenic bladder urologist bladder emptying
Independence personal care skin care pressure areas
Improve skin care orthopedic team
Ortho team equinovarious talipes if you see this check for SB # and infections
Lordosis scoliosis and kyphosis all need management
Aim for maximum mobility helps reduce obesity

Question 8

Neurogenic bladder

Answer 8

MCU early in life if grade 3 reflux antibiotics for the first 2-3 years

Question 9

Goals of bowel and bladder care in SB

Answer 9

1 regular bladder emptying ( decrease infection and prevents CRF)
2 prevent constipation want social continence by time goes to school if possible fluids enemas diet softeners
Unable to toilet train need help to empty bladder and bowel
In the newborn check for a palpable bladder and a patulous anus
Renal USS
MCU
DMSA scan 2-3 months of age
ANNUAL renal USS and Cr/Urea
High pressure bladders need urodynamics DMSA scan
Bladder capacity age +2 x30mls
Residue vol after bladder emptying should be <10%
BP regularly tested
Prevent and treatment UTIs antibiotics 2x longer than usual
Treat symptomatic UTIs

May need anticholinergic meds
Botulism

Question 10

IQ in SB

Answer 10

Usually in the normal range Lower end
Usually lower than siblings

Non verbal learning disorders difficulties with initative and flexibility

Question 11

NTD

Answer 11

Most are spinal defects in the lower sacral spine
But can occur at any level
>97% SB are associated with a Chariri 11 malformation in the brain

Question 12

Neurosurgical /neurological issues

Answer 12

Ventriculomegaly hydrocephaliss shunt function
Epilepsy
Cranial nerve problems sucking vocalizing
Brainstem problems
Re tethering The spinal cord becomes attached to the spinal Column and can lead to progressive permanent spinal cord damage
Changes in toileting/ foot posture/back pain
Scoliosis and
Need an MRI to check and urondynmic tests

Question 13

Orthopedic problems

Answer 13

Deforming splinting surgery
Skin care ( lack of sensation get pressure areas wounds etc
Pressure ares fractures and infection
Mobility and equipment