George Hall
- 8 Years
- SMA type II
- Day two post PEG insertion (Percutaneous endoscopic gastrostomy - PEG stands for percutaneous endoscopic gastrostomy, a procedure in which a flexible feeding tube is placed through the abdominal wall and into the stomach)
- Oxygen movement problem
SMA
-Autosomal recessive motor neuron disorder - deletion or mutation of survival motor neuron gene affecting motor neurone function
Types characterised by function
Type 1: most severe, 6 month onset
Type 2: onset 6-18 months and can sit
Type 3: onset during childhood and can ambulate
Type 4: onset in adulthood
Leads to predominantly proximal muscle atrophy and weakness often leading to secondary scoliosis, joint contractures and restrictive lung disease.
Respiratroy:
-MCC is usually functional but weakness in respiratory muscles including diaphragm and abdominals which predisposes shallow breathing and an ineffective cough, causing secretion retention and respiratory compromise
-Impaired cough: don’t have peak cough flow values of 160-200L/min
-Do spirometry and sleep study
-NIV should start early
Medicines for SMA
Spinraza:
-New drug administered directly into the cerebrospinal fluid, increasing the SMN protein production
Zolgensma:
-Gene therapy, SMN gene is delivered to target motor neuron cells using adenovirus vector
Respiratory issues with NMD
-Respiratory muscle weakness (hypoventilation)
-Weak cough
-Immobility
-Reduced TV
-Chest wall deformity
-Paradoxical breathing pattern
-Pain (can lead to supressing cough and not taking big breaths causing a secretion and oxygen movement impaiment)
Reviewing Xray
- Technique
- View
- Soft tissue
- Mediastinum
- Bony structures
- Lung fields
Anticipatory care
- Risks for patient
- Precautions
- PPE/cross infection
- Non-compliant behaviour - whats strategies to manage this?
- Planning Sx and Ox
- What to prepare/bring
AIDET
A = acknowledge all family members
I = give name, position, purpose, who referred and ask for permission
D = duration of visit and ability to stop at any time
E = explanation of role and consent
T = thank family/patient
Children bone growth
- Chondrocytes at the centre of the growing cartilage model enlarge and then die as the matrix calcifies
- Newly derived osteoblasts cover the shaft of the cartilage in a thin layer of bone
- Blood vessels penetrate the cartilage. New osteoblasts form a primary ossification centre
- The bone of the shaft thickens, and the cartilage near each epiphysis is replaced by shafts of the bone
- Blood vessels invade the epiphyses and osteoblasts for secondary centres of ossification
Epiphysis and physis
Epiphysis:
The ends of long bones are cartilage at birth and then develop by secondary ossification
Physis:
-Translucent, cartilaginous zone separating the epiphysis from the metaphysis
-Responsible for longitudinal growth of long bones
Child vs adult bone
Child:
-Diaphysis
-Metaphysis
-Epiphysis
-Physis
-Bone is softer, thicker periosteum
-Not as many dislocations and ligamentous injuries as ligaments are stronger than growth cartilage
Adult
-Diaphysis
-Metaphysis
Saltar Harris classification/fracture
Type 1: slip of physis (transverse fracture through growth plate)
Type 2: above physis (transverse fracture through growth plate and vertical fracture through metaphysis
Type 3: lower than physis (transverse fracture through growth plate through epiphysis to articular surface)
Type 4: Through physis (vertical facture through 4 tissues: metaphysis, physis, epiphysis and articular cartilage)
Type 5: compressed fracture/crushing of growth plate
Amelia
- Type 4 salter Harris fracture with a proximal compound mid-shaft femur fracture
Rural community - access? everyday activities?
- Risk of growth disruption and long term deformity
Subjective
-Pain (nature, intensity, am/pm)
-Feelings of stiffness
-Clear other joints of pain
-Ask about feelings of compression (compartment syndrome)
-Ask about what movement she has done
-Ask about goals
-Ask about aggravating factors
-Medications
-Yellow and red flags
-Any previous injuries anywhere else (should be on chart but good to check)
-Feelings of fatigue
-Sleeping
Objective:
-Observation (temperature, colour, swelling, wound dressing)
-Sensation testing/neurological exam
-PROM and AROM of other joints
-Transfers in bed
-Isometric knee hip activations
-PF/DF strength
Treatment:
-Gentle PROM/AAROM exercises with towel abiding by surgeon’s notes
-Isometric contractions of knee
-Practising transfer in bed and onto chair
-Post 3 weeks start weight-bearing mobilising with aid down corridor and back
Spina bifida
- Neural tube defect
- Neural tube is typically developed 18-27 post conception
- Failure of caudal end to fuse whilst anencephaly is the failure of the cranial end to fuse (won’t survive)
Open lesions
- MMC (Myelomeningocele): sack of mylomeninges on their back
- Myelocoele
Closed
- Meningocele
- Lipomyelomeningocoele
- Split cord malformation
- Sacral agenes/caudal regression
Potentially effected systems and clinical manifestations of spina bifida
- CNS (sensory and motor deficits, arnold-chiari malformation, hydrocephalus, syringomyelia)
- Auditory/vestibular
- Respiratory/CV
- Spine
- Reproduction
- Eyes
- Oral motor
- UL and LL (contractures, deformities, scoliosis, hip dysplasia/dislocations, increased risk of fractures)
- Genitourinary and GI (neurogenic bladder and bowel, secondary renal impairments)
- Skin/sensation (paraesthesia/anaesthesia, reduced circulation, pressure injuries)
Also commonly see developmental delays, cognitive deficits and learning difficulties
Predictors/risk factors for spina bifida
- Likely multifactorial
- Age: teenage women have the highest rate and women aged 30-34 years the lowest
- Rural and remote: location = higher risk
- Multiple pregnancies > singleton
- Indigenous women have a higher rate
- Maternal health: diabetes mellitus, obesity, heat exposure, anticonvulsant use
- Genetics
- Preconception folate (vitamin B9 - folic acid) reduces risk by 72-100% - needs to be taken one month prior to conception
High recurrence rate
Diagnosis of Spina bifida
- Ultrasound
- Foetal MRI
- Can be treated with antenatal or postnatal closure
Level of lesion
Children with MMC (myelomeningocele) may present with upper motor neuron or lower motor neuron signs, or a mixture of both.
Damage to the SC typically occur at the level of lesion and may indicate:
○ Anatomical level of the plaque on skin
○ Radiological level of the bony defect
○ Sensory level by mapping areas of sensory loss
○ Or the motor level as defined by muscle activity
○ The most useful determination of level of lesion is predicting the functional outcome has been found to be evaluation of motor level
Whilst the neuro-segmental level of lesion is determined by manual muscle testing and grading of key LL muscles. It is classified according to the most caudal intact nerve root.
Spinal cord tethering
- Typically occurs at L2
- Can cause prolonged and progressive neurological deterioration (particularly during child growth)
- Muscle weakness, gait changes, progressive scoliosis, increase contracture
- Pain, change in urodynamics, spasticity, UL changes
- Diagnosed with MRI and clinical signs (detethering operation to relieve traction of cord)
Arnold-chiari malformation
- Seen in nearly all MMC
- Abnormal hindbrain with medulla, sometimes the pons, inferior aspect of cerebellum and 4th ventricle herniate through an enlarged foramen magnum into cervical canal
- Signs and symptoms
○ Related to cranial nerves
○ Often swallowing difficulties
○ Apnoea’s
○ Vocal cord paralysis
○ Upper limb weakness
○ Tonal changes
Neurosurgical emergency - high mortality in infant
Hydrocephalus
- Present in >80% patients with MMC
- Caused by ACMII (arnold chiarir type 2 formation)
- Obstruction of CSF flow from 4th ventricle into spinal canal
- Becomes evident after closure of lesion
- 80-90% require VP shunt
Likelihood of ambulation in spina bifida
Determined on:
○ Level of lesion primarily
○ Quads strength
○ Early treatment
○ Therapy programs
○ Access to therapy
○ Parental compliance
○ LL deformities and contractures
○ Sitting balance
○ Orthotic availability
○ Cognitive abilities
○ Achievement of motor milestones and level of ambulation by 4-5 years
Benefits of ambulation
○ Independence in transfers and ADL’s
○ Fewer fractures
○ Fewer pressure sores
○ Improved BI/bowel function
○ Improved CV fitness
○ Reduction of LL contractures
○ Improved spatial organisation
○ Improved independence exploratory behaviour and psychosocial deviant
Disadvantages of ambulation
○ Financial costs of orthosis, surgery and therapy
○ Time and resource commitment in high level MMC
○ Significant energy consumption in high level MMC
○ Difficulty maintaining ambulation into and beyond adolescence
Preventing complications of spina bifida
- managing and avoiding pressure injuries (increased risk in adolescence)
- Obesity
- Increased risk of fracture
- Joint pain and dysfunction
- Latex sensitivity
- Promoting independence and participation
Kate
- 4 weeks old, 4kg
- L3 myelomingocoele closed (MMC): the membranes and the spinal nerves protrude at birth, forming a sac on the baby’s back.
- Poor wound closure and leaking CSF initially. No healed by skin remains fragile
- ventilated for 24 hours on room air
- Showed arnold chiari type 2 ventirculomegaly. Hind brain herniated into cervical canal
- Mum, dad and older brother
Anticipatory care for Kate:
- PPE: mask, gown, gloves (latex free)
- Toys (stimulus, easily sterilised)
- Towels
- Disinfectant
