Spina Bifida
 Common long and short exam case
For exam need to assess the following:
1. How does this child function in day to day life, i.e. a brief
outline of the child’s practical problems? This will make it clear
how the disability affects the child’s life.
2. What medical problems are relevant in this child?
History
Current History
Specific Medical Problems / Why in hospital now?
1. Hydrocephalus – Does this child have a shunt?
Any problems with the shunt?
2. Urinary system – Infections, operations, reflux, kidney damage,
any medications ( antibiotics, anticholinergics)
3. Orthopaedic problems - Feet and hips in particular ( e.g.
Deformity, pressure areas, problems with
Splints)
4. Other medical complications:
a) eyes ( squint, amblyopia)
b) back ( scoliosis, kyphosis )
c) skin care
d) short stature
e) obesity
How Does This Child Function?
1. Mobility - type, aids, therapy
2. Incontinence care
3. Education – What type of schooling? ( e.g. regular school,
special class, special school)
What particular learning problems?
4. Developmental problems – related to age ( e.g. aware of
disability, making friends, self - esteem, adolescent problems of
identity, independence, sexuality, employment )
How independent is this child?
Past History
1.
2.
3.
4.
5.
Pregnancy and birth history
Antenatal screening
Family history of neural tube defects
Diagnosis
Initial management ( counselling. Understanding of the
condition and expectations for the child)
6. Early management.
7. Complications: infections, hospitalisations, operations.
Social History
Impact
1. On the child e.g. restricted opportunities, fewer friends,
teasing, depression, poor motivation.
2. On schooling and social integration
3. On the family ( effect on siblings, marriage, financial )
What Assistance does the Family Receive?
1. Community supports: PHN, social worker, respite care, support
groups, physiotherapist, O.T
2. Financial Supports
Child’s Adaptation to Disability
1. What does he/she think about himself/ herself ( self- esteem)
2. Friends
3. Achievements
4. Hopes for the future
Examination
( refer to diagram)
Aims:
1. Demonstrate the level of the lesion
2. Functional assessment
3. Look for associated abnormalities / complications
Inspection
 Child’s posture and spontaneous movement – describe the
posture in detail, focusing on each joint systematically ( e.g.’’
flexed at hips, extended at knee’’), and noting any deformities
 Note the muscle bulk, comparing lower limbs with upper limbs
 Observe the child’s movements, LL vs UL
 Inspect the head – size ( hydrocephalus from Arnold-Chiari
Malformation (ACM) ) and any obvious shunts
 Eyes – squint, nystagmus ( either can occur with ACM )
 Scan the abdomen for any scars ( VP shunts)
 Back – site of lesion, size of repair scar,
Scoliosis or scars ( fixation rods for kyphoscoliosis)
Pressure sores
 Check centiles - large head ( hydrocephalus)
- height usually decreases (short back, short
lower limbs)
- weight usually increased ( obese for height)
 Respiratory signs – Stridor ( severe ACM )
- Apnoea ( severe ACM )
- Tachypnoea ( aspiration pneumonia, Cardiac
failure)
Lower Limbs
Start at lower limbs unless directed otherwise by examiners.
Inspection: as above ( muscle bulk, wasting, deformity( i.e. talipes,
dislocated hips), contractures, scars ( tendon releases, transfers),
spontaneous movement
Palpation:
 Muscle bulk ( each muscle compartment)
Check tone, power, reflexes
Joint movement
 Hip ( e.g. fixed flexion deformity; check for dislocation last)
 Knee ( e.g. fixed hyperextension )
 Ankle ( e.g. fixed dorsiflexion)
Sensation: demonstrate the sensory level
Systems Exam
Abdomen, then chest, upper limb, head and neck
Offer to check blood pressure
Functional Assessment
Older Children:
 Activities of daily living ( reading, writing, using a knife,
fork, spoon, comb, tooth brush)
 Ability to attend to personal hygiene ( toileting,
catheterisation, menses )
Younger children:
 Perform a developmental assessment
Additional Points
1. Hip flexion corresponds to L1, L2, so is affected in higher
lesions
2. Lesions above L1 cause total paraplegia.
Thus in thoracic lesions, LL’s flaccid ( frog leg posture)
3. Lesions in the high lumbar region cause child to lie in position
of flexion and adduction at the hips
4. Lesions with L3 preserved allow an infant to exhibit some
kicking movement
5. Hip extension corresponds to L5,S1, S2 and so is affected in all
but the lower sacral lesions
6. Lesions at S3 or below completely spare lower limb sensory and
motor function, but cause paralysis of bladder and anal
sphincters and ‘’saddle anaesthesia’’
Management Issues
Paralysis
 Immobility
 Dependence vs independence
 Joint contractures
 Loss of skin sensation
 Pressure necrosis of soft tissues
Sphincter Disturbance
Bladder
 Anticholinergic drugs increase bladder capacity
 Alpha-adrenergic drugs increase bladder outlet resistance
 Intermittent catheterisation can prevent residual urine
retention and increase continence
 Incontinence clothing ( pads and pants) required in
children who are unable to store any urine
 Monitor for UTI’s, consider prophylactic antibiotics if
VUR present
 Surgery may be required : Bladder augmentation.
Bladder neck reconstruction,
Anti-reflux surgery
Bowel
 Avoidance of constipation
 Regular and predictable timing of rectal emptying
 Dietary regulation
 Laxatives, suppositories and enemas may be necessary
Hydrocephalus
Associated problems:
 Increased chance of intellectual impairment
Shunt complications:
 Obstruction, Infection, Seizures
Scoliosis
 Impairment of balance
 Decreased total lung capacity
 Increased risk of infection
 Cor pulmonale
 Impairment of height
 Need for surgery ( e.g. Harrington rods )
Size
 Small stature
 Short lower limbs
 Obese for height
Squint
 Associated with hydrocephalus
 May lead to amblyopia if untreated
Genetic Counselling
 Parents who have one child affected with a neural tube defect
have an increased risk of having a further affected child of
1 in 20.
 Prevention – i.e. Folic acid
 Antenatal screening – detailed ultrasound at 16-20 weeks
- amniocentesis (  alphafetoprotein,
 acetylcholinesterase) * if lesion is open