Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

PassPMR - 09 Pediatrics > 5- Pediatric Myopathis, TBI & P&O > Flashcards

5- Pediatric Myopathis, TBI & P&O Flashcards

1
Q

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

A

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

  1. When they begin to walk: 18 months or later.
  2. When they lose their ability to ambulate: Wheelchair by 12 years old (Becker MD, the milder form of MD)
  3. 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

  1. Trapezius pseudohypertrophy
  2. Scapular winging
  3. Spine
    • Scoliosis (worsen after wheelchair or immobility due to spinal muscle disuse atrophy)
    • Increased lumbar lordosis
  4. Ambulation difficulties: Toe walking, clumsy running
  5. Proximal muscle weakness (pelvic girdle, quads wasting) “myopathic pattern”
  6. Myopathic gait: exaggerated lumbar lordosis with genu recurvatum
  7. Gower’s sign: Difficulty rising from the floor due to hip and knee extensor weakness
  8. Contractures: Iliotibial band (first), Achilles tendon
  9. Calf pseudohypertrophy with fat and fibrous tissue
  10. Abnormal MSR

NON-MSK COMPLICATIONS

  1. Possible mental retardation
  2. Extra-ocular muscles are spared
  3. Paradoxical breathing and restrictive lung disease

WORKUP

  1. Blood: Increased CPK and aldolase.
  2. See: Muscle Biopsy → No dystrophin
  3. Genetic: Mutation in xp21
  4. EDX of Myopathies
    • SNAP: Normal (Muscles are affected)
    • CMAP: ± Decreased amplitude (Clinical weakness)
    • EMG: AA (rare), Myopathic MUAP: Early recruitment, ± SDSA
  5. ECG & ECHO: 7. Conduction & Heart failure
  6. 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 well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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?

A
  • 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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the only disease modifying treatment for DMD? 🔑🔑 Dr. Haitham

A

Steroids (Deflazacort and prednisone)

  • Deflazacort 0.9 mg/kg/day, OR
  • Prednisone 0.75 mg/kg/day

Shown to:

  1. Increase strength, timed muscle function, and pulmonary function
  2. Slows decline in muscle strength and function

Ref: 2006 – Continuum – muscular dystrophies article; Lancet Neurology 2010

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Drug of choice in DMD is prednisolone, list 6 side effects. 🔑🔑

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Hyperlordosis in Duchenne’s 🔑🔑

(a) Cause (b) What is compensation

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

9yo boy with DMD (duchenne), independent ambulator.

What are 3 lower extremity contractures that he is at risk for developing?

A

UPPER LIMB

  1. Elbow flexion.
  2. Wrist flexion.

LOWER LIMB

  1. Hip flexion.
  2. Iliotibial band tightness.
  3. Knee flexion.
  4. Ankle Plantar flexion.

Ref: Alexander matthews pg 290.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Why do you get pseudohypertrophy in the calves of kids with Duchenne muscular dystrophy?

A
  1. Unstable sarcolemma membrane from absent dystrophin results in breakdown of muscle fiber.
  2. 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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the natural history of scoliosis in Duchenne Muscular Dystrophy? When to suggest surgery? 🔑🔑

A
  • 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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

DMD. Respiratory assessment & when do you interfere? 🔑🔑

List 2 warning signs for respiratory failure. 🔑🔑

A

Clinically

  1. Daytime: Fatigue, Dyspnea, Daytime somnolence, Morning headache
  2. Nighttime: Nocturnal hypoventilation → Night Oximetry

Best Indicator

  1. FVC of less than 1 L (normally 3-5 L)

Others

  1. Peak Cough Flow (PCF) <270 mL/min, <160 L/min = respiratory failure
  2. ABG: Hypoxia PaO2 < 60 mm Hg, Hypercapnia PaCO2 > 45mmHg
  3. Maximal inspiratory pressure (MIP) <30% predicted
  4. Maximal expiratory pressures (MEP) <45 cm H2O

Follow Up

  1. PFT (Restrictive lung disease): Monitor FVC every 6 months
  2. Sleep study → Nocturnal hypoventilation and sleep apnea

Pulmonary Rehabilitation

  1. Control Risk Factors
    • Immunizations: Pneumococcal vaccines, inactivated influenza vaccine, COVID
    • Dysphagia management → PEG tube feeding
  2. 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
  3. Cough Management
    • Mechanical airway clearance (CoughAssist)
      • Prevent atelectasis and promote airway clearance

Dr. Maitham Note (Cuccurollo + DeLisa + Braddom)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

When should ventilatory support be instituted in patients with DMD?

A

SYMPTOMS: Dyspnea at rest

ABG: Hypercapnia

MONITOR: 45% predicted VC & Maximal inspiratory pressure (MIP) <30% predicted

Cuccurullo 4th Edition Chapter 9 Pulmonary Rehabilitation pg657

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Whats your opinion in Oxygen therapy for DMD? 🔑🔑

A

Contraindicated in restrictive airway disease → Lower the respiratory drive and accumulation of CO2 → Respiratory failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are 4 signs of non-accidental trauma? 🔑🔑 MOCK Dr. Haitham

A
  1. Subdural hemorrhage
  2. Retinal hemorrhage
  3. Encephalopathy
  4. Fractures (Spiral fracture of long bones
  5. Multiple injuries

Cuccurollo 4th Edition Chapter 10 pg770

Michael A. Alexander 5th Edition Chapter 17 TBI pg431

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Pediatric TBI. Mention Sensory Deficits “Think organs affected in head injury”🔑

A
  1. 🙊 Anosmia: Impaired olfaction
  2. 🙉 Hearing impairment: central processing deficit, peripheral nerve damage, cochlear injury, or disruption of the middle ear structures.
  3. 🙈 Visual impairment: Injuries to cranial nerves, eyes, optic chiasm, tracts, radiations, or cortical structures

Cuccurollo 4th Edition Chapter 10 Pediatrics pg772

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Pediatric TBI. Mention Cognitive Deficits “Think lobes” 🔑

A

FRONTAL LOBE

  1. Impairment of arousal and attention
  2. Impairment in abstract reasoning
  3. Agitation: Damage to the frontal lobes and subcortical areas may result in agitation
  4. Impulse control, disinhibition and hypersexuality
  5. Emotional lability
  6. Social isolation

PAREITOTEMPORAL LOBE

  1. Memory impairment
  2. Aphasia: difficulty in naming, verbal fluency, and expression
  3. Egocentricity

Cuccurollo 4th Edition Chapter 10 Pediatrics pg772

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Pediatric TBI. Mention Motor Deficits

A

💡 Cortical Tract (UMN) - Basal Ganglia - Cerebellum & Ears

  1. UMN: Focal damage may result in hemiparesis, Spasticity/rigidity (38%)
  2. CEREBELLUM: Deficit in balance, coordination, and initiation
  3. BASAL GANGLIA: Tremor, Dystonia
  4. EARS: Impairment in cochlear and vestibular functions

Cuccurollo 4th Edition Chapter 10 Pediatrics pg772

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

How does the treatment of Heterotopic ossification (HO) in children differ than adults? 🔑

A
  1. Gentle ROM
  2. Splinting and positioning
  3. NSAIDs
  4. 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

17
Q

Pediatric TBI. List 2 neuroendocrine complications. 🔑

A

💡 Abnormal growth, either delayed or early

  1. Hypopituitarism
  2. Precocious puberty
  3. Diabetes insipidus (DI)
  4. Syndrome of inappropriate ADH (SIADH)
  5. Cerebral salt wasting (CSW)

Cuccurollo 4th Edition Chapter 10 Pediatrics pg773

18
Q

List 4 Risk factors for congenital limb deficiencies. 🔑

A
  1. Maternal diabetes
  2. Smoking
  3. Maternal vitamin deficiency
  4. Amniotic band syndrome
  5. Thalidomide

Ref: Alexander Matthews pg 335-336.

19
Q

Mention the classic terms of describing limb deficiency 🔑🔑 Dr. Maryam

A
  1. Aphalangia—absent finger or toe
  2. Adactyly—absent metacarpal or metatarsal
  3. Acheiria—missing hand or foot
  4. Amelia—absence of a limb
  5. Hemimelia—absence of half a limb
  6. Meromelia—partial absence of a limb
  7. 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

20
Q

Describe the ISPO classification of congenital limb deficiencies 🔑🔑 Dr. Maryam

A

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

  1. Named bones = absent.
  2. Bones not named = present and normal form.
  3. Complete absence (bone is not present).
  4. Partial absence (components of bone present, long bones in 1/3’s).

Ref: Alexander Matthews pg 336.

21
Q

What are the most common congenital limb deficiencies? 🔑

A

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.

22
Q

Diagnosis and your management.

A

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

23
Q

Diagnosis and management. 🔑🔑 Dr. Haitham

What is the typical positioning of the residual limb in proximal focal femoral deficiency (PFFD)?

A

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

  1. PFFD ortho-prosthesis
  2. Van Ness Rotation: Simulation of below-knee function by rotating the foot by 180 degrees so ankle motion can control the prosthesis.
  3. Above Knee Prosthetic: Fusion of the shortened femur to the tibia and removal of the foot
24
Q

Pediatric Upper Limb Prosthesis. When do you start fitting?🔑🔑

A

💡 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

25
Q

Pediatric Lower Limb Prosthesis. When do you start fitting?🔑🔑

A

💡 Prostheses need to be replaced every 15 to 18 months on the growing child

9 Months

  • Toddler is ready to pull up to standing position at 9 to 10 months.
  • Better with jointless, above-the-knee prosthesis to the toddler.

18 Months

  • Knee joint is usually added as early as 18 months of age.

5 Years

  • Normal child does not establish heel-to-toe gait until around 2 years
  • Prosthetic heel strike to toe-off gait is not attained until 5 years

Cuccurollo 4th Edition Chapter 10 Pediatrics pg740

26
Q

When can a child start using a wheelchair? which type is suitable? 🔑🔑

A
  • Motorized wheelchairs are traditionally introduced when a child is 5 to 6 years old
  • Cognitive skills of spatial relation and problem-solving are essential predictors of power mobility

Cuccurollo 4th Edition Chapter 10 Pediatrics pg741

27
Q

Amputee complications in pediatric complications 🔑🔑

A
  1. Terminal overgrowth at the end of a long bone → surgical revision
    • Location: Arms and Legs→ Humerus, fibula, tibia, and femur
  2. Bone spur formation → socket modification
  3. Development of adventitious bursae → socket modification
  4. Stump scarring → socket modification

Cuccurollo 4th Edition Chapter 10 Pediatrics pg741

28
Q

What are the precautions for amputation in pediatric population?

In child amputees, the disarticulation level of amputation is preferred. Why? 🔑

A

ANSWER 1

  1. To preserve the epiphysis, to allow maximum limb growth
  2. To avoid bone overgrowth that can occure in amputaton preformed throught the shaft of a long bone

PMR Secrets 3rd Edition Chapter 35 pg284 q8

ANSWER 2

Precautions

  • Important to retain the bony growth centers at the distal femur as well as the proximal and distal tibia to allow for continued longitudinal growth of the residual limb
  • By performing a joint disarticulation (rather than a transmetaphyseal or transdiaphyseal amputation) in a growing child, the epiphyseal growth plate can be preserved
  • Femur, for example, 70% of growth occurs from the distal physes. The loss of the distal femoral epiphyses can result in a significantly shorter residual limb

Advantages of Knee Disarticulation

  1. Preserves the distal femoral epiphysis, ensuring continued growth
  2. Avoiding distal bony overgrowth.
  3. Weight-bearing distal end and a long femoral lever arm for enhanced suspension
  4. Decreased energy expenditure with ambulation

Disadvantages of Knee Disarticulation

  • Less ideal cosmesis and fewer prosthetic knee options

Cuccurollo 4th Edition Chapter 10 Pediatrics pg740-741

29
Q

Phantom limb pain in pediatrics amputee 🔑🔑

A

Congenital limb deficiency

Do not develop phantom sensation or pain even after conversion to surgical amputation of the limb.

Acquired amputations

Retain some awareness of the amputated part. This sensation has been described as uncomfortable or painful.

Age

The older the child is at the time of the amputation, the greater the chance that he or she may experience phantom pain, especially if the amputation occurs after the age of 10

Cuccurollo 4th Edition Chapter 10 Pediatrics pg741

PassPMR - 09 Pediatrics (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions