5- Pediatric Myopathis, TBI & P&O Flashcards
Duchenne muscular dystrophy (DMD) 🔑🔑 (OSCE)
Etiology & Inheritance: Explain to mother
What are the Three major time points for patients with DMD?
Onset & Course: How does it present?
MSK & NON-MSK: What are the complications?
Routine investigation in Myopathies? Blood - See - Special
Rule of Rehabilitation. List 10
DUCHENNE MUSCULAR DYSTROPHY
- Absence of dystrophin, a protein that stabilizes muscle membrane like a balloon holder water, once the balloon is picked .. it will break and water (muscle protein CK) will leak out.
Inheritance
- Duchenne always accompanied by their mothers
- X-linked recessive (xp21)
THREE MAJOR TIME POINTS
- When they begin to walk: 18 months or later.
- When they lose their ability to ambulate: Wheelchair by 12 years old (Becker MD, the milder form of MD)
- When they die: Death by 20s
COARSE & EARLY MOTOR COMPLAINTS
💡 Starts at kindergarten 1-2, at around 3–5 years old when mother or teacher notices abnormal motor development.
- Frequent falling
- Inability to jump, Inability to keep up with peers
- Decreased endurance
- Toe walking
- Inability to take stairs
LATE COMPLICATIONS
- Trapezius pseudohypertrophy
- Scapular winging
- Spine
- Scoliosis (worsen after wheelchair or immobility due to spinal muscle disuse atrophy)
- Increased lumbar lordosis
- Ambulation difficulties: Toe walking, clumsy running
- Proximal muscle weakness (pelvic girdle, quads wasting) “myopathic pattern”
- Myopathic gait: exaggerated lumbar lordosis with genu recurvatum
- Gower’s sign: Difficulty rising from the floor due to hip and knee extensor weakness
- Contractures: Iliotibial band (first), Achilles tendon
- Calf pseudohypertrophy with fat and fibrous tissue
- Abnormal MSR
NON-MSK COMPLICATIONS
- Possible mental retardation
- Extra-ocular muscles are spared
- Paradoxical breathing and restrictive lung disease
WORKUP
- Blood: Increased CPK and aldolase.
- See: Muscle Biopsy → No dystrophin
- Genetic: Mutation in xp21
- EDX of Myopathies
- SNAP: Normal (Muscles are affected)
- CMAP: ± Decreased amplitude (Clinical weakness)
- EMG: AA (rare), Myopathic MUAP: Early recruitment, ± SDSA
- ECG & ECHO: 7. Conduction & Heart failure
- PFT: Restrictive Lung Disease
TREATMENT
- Prednisone 0.75 mg/kg/d
- Follow with Osteoporosis Clinic
REHABILITATION
DeLisa 5th Edition Chapter 30 Myopathy Table 30.6 & 30.8
Cuccurollo 4th Edition Chapter 5 EDX pg440 Table 5-50
https://emedicine.medscape.com/article/1259041-clinical
How common is duchenne muscular dystrophy DMD?
At what age are children with DMD usually diagnosed? 🔑🔑
At what age do children with DMD usually lose independent ambulation by?
- 1 in 3600-6000.
- 5 years of age, when physical ability diverges from peers markedly.
- Usually lose ability to ambulate independently by 13 years old.
NOTE: age of loss of ambulation is without steroids – with steroids, boundaries are less distinct.
Ref: Lancet Neurol2010; 9: 177–89
What is the only disease modifying treatment for DMD? 🔑🔑 Dr. Haitham
Steroids (Deflazacort and prednisone)
- Deflazacort 0.9 mg/kg/day, OR
- Prednisone 0.75 mg/kg/day
Shown to:
- Increase strength, timed muscle function, and pulmonary function
- Slows decline in muscle strength and function
Ref: 2006 – Continuum – muscular dystrophies article; Lancet Neurology 2010
Drug of choice in DMD is prednisolone, list 6 side effects. 🔑🔑
Hyperlordosis in Duchenne’s 🔑🔑
(a) Cause (b) What is compensation
MYOPATHIC GAIT
Causes
- Weakness of back and hip extensors
- Weakness in knee extension
Compensation
- Lumbar hyperlordosis moves COG posterior to hip and stabilizes hip in extension
- Decreasing knee flexion and toe-walking
Ref: Cuccurullo p790
9yo boy with DMD (duchenne), independent ambulator.
What are 3 lower extremity contractures that he is at risk for developing?
UPPER LIMB
- Elbow flexion.
- Wrist flexion.
LOWER LIMB
- Hip flexion.
- Iliotibial band tightness.
- Knee flexion.
- Ankle Plantar flexion.
Ref: Alexander matthews pg 290.
Why do you get pseudohypertrophy in the calves of kids with Duchenne muscular dystrophy?
- Unstable sarcolemma membrane from absent dystrophin results in breakdown of muscle fiber.
- As disease progresses dead muscle fibers are cleared away by macrophages and replaced by fatty and connective tissue elements, conveying a deceptively healthy appearance to the muscle (pseudohypertrophy), especially calves and forearms.
Ref: Alexander matthews pg 279.
What is the natural history of scoliosis in Duchenne Muscular Dystrophy? When to suggest surgery? 🔑🔑
- Occur in 95%
- Progress to > 100 degrees at 10/y after wheelchair use
- Bracing - slows progression but does not halt
- Surgery before:
- Ideally surgery before FVC < 40% predicted
DMD. Respiratory assessment & when do you interfere? 🔑🔑
List 2 warning signs for respiratory failure. 🔑🔑
Clinically
- Daytime: Fatigue, Dyspnea, Daytime somnolence, Morning headache
- Nighttime: Nocturnal hypoventilation → Night Oximetry
Best Indicator
- FVC of less than 1 L (normally 3-5 L)
Others
- Peak Cough Flow (PCF) <270 mL/min, <160 L/min = respiratory failure
- ABG: Hypoxia PaO2 < 60 mm Hg, Hypercapnia PaCO2 > 45mmHg
- Maximal inspiratory pressure (MIP) <30% predicted
- Maximal expiratory pressures (MEP) <45 cm H2O
Follow Up
- PFT (Restrictive lung disease): Monitor FVC every 6 months
- Sleep study → Nocturnal hypoventilation and sleep apnea
Pulmonary Rehabilitation
- Control Risk Factors
- Immunizations: Pneumococcal vaccines, inactivated influenza vaccine, COVID
- Dysphagia management → PEG tube feeding
- Breathing
- Lung Volume Recruitment (LVR)
- Non-Invasive Ventilation
- FVC < 60% or PCF < 270 mL/min
- Nighttime: Bilevel positive pressure ventilation (BiPAP) with mouthpiece
- Daytime: BiPAP
- Invasive Ventilation
- Not responsive to 24-hour NIV
- Oxygen Therapy
- Contraindicated in restrictive airway disease → Lower the respiratory drive and accumulation of CO2 → Respiratory failure
-
Cough Management
- Mechanical airway clearance (CoughAssist)
- Prevent atelectasis and promote airway clearance
- Mechanical airway clearance (CoughAssist)
Dr. Maitham Note (Cuccurollo + DeLisa + Braddom)
When should ventilatory support be instituted in patients with DMD?
SYMPTOMS: Dyspnea at rest
ABG: Hypercapnia
MONITOR: 45% predicted VC & Maximal inspiratory pressure (MIP) <30% predicted
Cuccurullo 4th Edition Chapter 9 Pulmonary Rehabilitation pg657
Whats your opinion in Oxygen therapy for DMD? 🔑🔑
Contraindicated in restrictive airway disease → Lower the respiratory drive and accumulation of CO2 → Respiratory failure
What are 4 signs of non-accidental trauma? 🔑🔑 MOCK Dr. Haitham
- Subdural hemorrhage
- Retinal hemorrhage
- Encephalopathy
- Fractures (Spiral fracture of long bones
- Multiple injuries
Cuccurollo 4th Edition Chapter 10 pg770
Michael A. Alexander 5th Edition Chapter 17 TBI pg431
Pediatric TBI. Mention Sensory Deficits “Think organs affected in head injury”🔑
- 🙊 Anosmia: Impaired olfaction
- 🙉 Hearing impairment: central processing deficit, peripheral nerve damage, cochlear injury, or disruption of the middle ear structures.
- 🙈 Visual impairment: Injuries to cranial nerves, eyes, optic chiasm, tracts, radiations, or cortical structures
Cuccurollo 4th Edition Chapter 10 Pediatrics pg772
Pediatric TBI. Mention Cognitive Deficits “Think lobes” 🔑
FRONTAL LOBE
- Impairment of arousal and attention
- Impairment in abstract reasoning
- Agitation: Damage to the frontal lobes and subcortical areas may result in agitation
- Impulse control, disinhibition and hypersexuality
- Emotional lability
- Social isolation
PAREITOTEMPORAL LOBE
- Memory impairment
- Aphasia: difficulty in naming, verbal fluency, and expression
- Egocentricity
Cuccurollo 4th Edition Chapter 10 Pediatrics pg772
Pediatric TBI. Mention Motor Deficits
💡 Cortical Tract (UMN) - Basal Ganglia - Cerebellum & Ears
- UMN: Focal damage may result in hemiparesis, Spasticity/rigidity (38%)
- CEREBELLUM: Deficit in balance, coordination, and initiation
- BASAL GANGLIA: Tremor, Dystonia
- EARS: Impairment in cochlear and vestibular functions
Cuccurollo 4th Edition Chapter 10 Pediatrics pg772
How does the treatment of Heterotopic ossification (HO) in children differ than adults? 🔑
- Gentle ROM
- Splinting and positioning
- NSAIDs
- Do not use etidronate because it has been reported to result in a reversible rachitic syndrome in growing children.
Cuccurollo 4th Edition Chapter 10 Pediatrics pg774
Pediatric TBI. List 2 neuroendocrine complications. 🔑
💡 Abnormal growth, either delayed or early
- Hypopituitarism
- Precocious puberty
- Diabetes insipidus (DI)
- Syndrome of inappropriate ADH (SIADH)
- Cerebral salt wasting (CSW)
Cuccurollo 4th Edition Chapter 10 Pediatrics pg773
List 4 Risk factors for congenital limb deficiencies. 🔑
- Maternal diabetes
- Smoking
- Maternal vitamin deficiency
- Amniotic band syndrome
- Thalidomide
Ref: Alexander Matthews pg 335-336.
Mention the classic terms of describing limb deficiency 🔑🔑 Dr. Maryam
- Aphalangia—absent finger or toe
- Adactyly—absent metacarpal or metatarsal
- Acheiria—missing hand or foot
- Amelia—absence of a limb
- Hemimelia—absence of half a limb
- Meromelia—partial absence of a limb
- Phocomelia (“seal limb”)—flipper-like extremity with an absent or markedly hypoplastic proximal limb and normal/nearly normal hand or foot
Cuccurollo 4th Edition Chapter 10 Pediatrics pg737
Describe the ISPO classification of congenital limb deficiencies 🔑🔑 Dr. Maryam
TRANSVERSE
- All bones after the named segment are absent, partial or total
- Estimate length of residual bone in thirds (eg. 1/3 distal radius transverse deficiency).
LONGITUDINAL
Preservation of bones distal to anomalies
- Named bones = absent.
- Bones not named = present and normal form.
- Complete absence (bone is not present).
- Partial absence (components of bone present, long bones in 1/3’s).
Ref: Alexander Matthews pg 336.
What are the most common congenital limb deficiencies? 🔑
Upper Limb
Longitudinal fibular deficiency
Partial longitudinal femoral deficiency
Total/partial longitudinal tibial
Ref: Alexander Matthews p347.
Lower Limb
Transverse deficiency of upper 1/3rd of forearm
Ref: Alexander Matthews p340.
Diagnosis and your management.
Fibular longitudinal deficiency (fibular hemimelia)
If leg length inequality is severe, a Syme’s amputation may be performed with fitting of a Syme’s prosthesis
Diagnosis and management. 🔑🔑 Dr. Haitham
What is the typical positioning of the residual limb in proximal focal femoral deficiency (PFFD)?
Partial proximal femoral focal deficiency (PFFD) / Longitudinal deficiency of the femur
Up to 80% present with associated fibular deficiencies
Position
Femur is typically short and held in flexion, abduction, and external rotation.
Treatment
- PFFD ortho-prosthesis
- Van Ness Rotation: Simulation of below-knee function by rotating the foot by 180 degrees so ankle motion can control the prosthesis.
- Above Knee Prosthetic: Fusion of the shortened femur to the tibia and removal of the foot
Pediatric Upper Limb Prosthesis. When do you start fitting?🔑🔑
💡 Prostheses need to be replaced every 15 to 18 months on the growing child
TRANSRADIAL PROSTHESIS
6 Months
- Once child achieves sitting balance at around 6 to 7 months.
- Passive mitt in which the infant can practice placing objects.
12 Months
- Self-suspending design with a supracondylar socket, and a terminal device
- Terminal device is provided around 11 to 13 months
- Performs simple grasp and release activities
- Has an attention span >5 minutes
4-5 Years
- Child can operate all types of prosthetic components and controls
TRANSHUMERAL PROSTHESIS
2-3 Years
- Child is strong enough and has the cognitive ability to operate them.
- Body-powered hooks
4-5 Years
- Body-powered elbow
Cuccurollo 4th Edition Chapter 10 Pediatrics pg738
