NEUROMUSCULAR

DYSFUNCTION IN CHILDREN
 NEUROMUSCULAR DISORDERS
DISCUSSED
• Cerebral Palsy
• Spina Bifida
• Muscular Dystrophy
 CEREBRAL PALSY
A group of permanent disorders of the development of movement and
posture, causing activity limitation, that are because of a nonprogressive
disturbance that occurred in the developing fetal or infant brain
 CLASSIFICATION OF CEREBRAL
PALSY
• Incidence • Classified by
• 2.4-3.6 children in every • Motor abnormalities
1,000 live births • Type
- Most common permanent • Severity
physical disability of • Associated impairments
childhood • Seizures, cognitive,
communicative, behavioral
• Anatomic and radiologic
findings
• Causation and timing
• In essence—the classification
of CP is very complicated
CEREBRAL PALSY: MILD TO
SEVERE
 CLASSIFICATION OF CP: NEURAL INJURY
LOCATION & SUBSEQUENT MOVEMENT
DISORDERS

Mixed CP
involves 2+
different
movement
disorders in
one patient
and is very
common
 CEREBRAL PALSY:
• Disorder NOT caused by problems
in the muscles or nerves but faulty
PATHOPHYSIOLOGY
development or damage to motor
areas in the brain
• Brain’s ability to adequately
control movement and posture is
disrupted
• Brain abnormalities
• Narrower gyri; wider sulci
• Small, smooth brain
• Anoxia causes neural death
• Causes of anoxia were previously
discussed
• In few cases, brain did not initially
form properly
 CEREBRAL PALSY: ETIOLOGY
• Anoxia from delivery OR SOONER in utero
• Studies now showing that CP is often the result of an existing
prenatal brain abnormality
• Some causes of congenital CP are:
• Maternal infections
• Jaundice
• Rh incompatibility
• Stroke
• Infants with history of preterm birth have higher incidence –
WHY?
• CP can be from an neural injury in utero, during delivery, or in
the first 2 years of life while the brain is rapidly developing.
 CEREBRAL PALSY: DIAGNOSIS
• Thorough neurological exam and • Imaging and testing to confirm
prenatal, delivery, and postnatal brain changes associated with CP
history AND rule out other brain lesions
• Persistence of primitive reflexes • CT, MRI, ultrasound, serum
• Typically the earliest sign testing, EEG
• History of preterm delivery • Diagnosis cannot be confirmed
• Maternal infection associated with until 2 years of age
CP
• Failure to meet developmental
milestones on time
 CEREBRAL PALSY: CLINICAL
MANIFESTATIONS
• Infants at risk for development of
CP require careful observation
(which infants at most risk?)

• Infant doesn’t reach developmental

milestones – universal finding (e.g.,
holding up their head, rolling over,
sitting, crawling or smiling)

• Manifestations often not present

until 2nd half 1st year of life
(Why?) See Box 35-3 in Wong text “Clinical
Manifestations of Cerebral Palsy (At
time of diagnosis)
 CEREBRAL PALSY: CLINICAL
MANIFESTATIONS
• Clinical manifestations are divided into 3
categories:
• Motor abnormalities (aka movement disorders)
• Abnormal muscle tone
• Associated impairments
 CP CLINICAL MANIFESTATIONS:
MOTOR ABNORMALITIES

Gross motor Behavioral/social

• Cannot sit up unassisted by • Failure to smile by ______ months
_______ months • Feeding difficulties (gagging,
• Floppy or limp body posture choking; tongue thrust after 6mo)
(infant) • Extreme irritability or crying
• Stiff or rigid arms or legs
• Uses one side of body or only
arms to crawl
 CP CLINICAL MANIFESTATIONS:
ABNORMAL MUSCLE TONE
• Persistence of primitive
reflexes past 6 months
• Moro
• Tonic neck
• Grasp reflex
 CP CLINICAL MANIFESTATIONS:
MOTOR ABNORMALITIES
• Early sign is hand preference in first 18 months
• Abnormal crawl
• Uncoordinated or involuntary movements
• Facial grimacing
• Writhing movements (with athetoid CP)
• Poor suck
• Tongue thrust
• Ataxia
 CP CLINICAL MANIFESTATIONS:
ABNORMAL MUSCLE TONE
• Hypotonic
• Present at birth and may
persist to one year, then
replaced by hypertonic
muscles
• Hypertonic
• Resistance to passive ROM
• Increased DTRs
• Hips higher than trunk when
prone
• Spine deformities d/t
opisthotonic posture
• Contractures
 YOU ARE CARING FOR A 2.5 YEAR OLD CHILD WITH
A NEW DIAGNOSIS OF CEREBRAL PALSY. WHICH OF
THE FOLLOWING WOULD YOU EXPECT TO SEE?
SELECT ALL THAT APPLY

A. Low muscle tone

B. Hypertonic reflexes
C. Narrow gait
D. Drooling
E. BMI 2nd percentile
F. Jerky movement of the upper
extremities when reaching for
a ball
 CP: MOVEMENT DISORDERS
• Spastic- upper motor neuron muscular weakness. Persistent
primitive reflex, hypertonicity.

• Dyskinetic- often will have chorea (jerking movements that are

involuntary and irregular) worm, writhing movements.

• Ataxic-unsteady shaking movements, wide based gait, poor

balance and coordination

• Mixed- combination of 2+ above types

• All types can be mild (impaired fine motor), moderate (impaired
fine and gross motor), or severe (unable to perform usual ADLs).
 SPASTIC CEREBRAL PALSY

• Most common type: 70-

80% of the cases

Toe Walking
 SPASTIC
CP TYPES
 SPASTIC CP
• Scissoring caused by spasticity of
muscles
• [Link]
bral-palsy/2978nsciou4?=glogpedi
a-source
 CP CLINICAL MANIFESTATIONS:
ASSOCIATED IMPAIRMENTS
• Mental Impairment • Non-ambulatory leads to
• ~ 50-60% within normal many problems
limits • Constipation
• Difficult to test
• Orthopedic problems
• Seizures
• Skin breakdown
• As many as 50% of children
with CP have some type of • Respiratory infections
seizure disorder (pneumonia & others)
• Contractures
• Incontinence
• ADHD
 CP CLINICAL MANIFESTATIONS:
ASSOCIATED IMPAIRMENTS
• Feeding Difficulties
• Manifests as Failure to Thrive
• Poor suck
• Tongue thrust
• Affects chewing, swallowing,
and talking
 CP: ASSOCIATED DISORDERS
• Respiratory problems
• Aspiration pneumonia
• Chronic respiratory infections
• Impaired Vision
• Nystagmus and amblyopia (lazy
eye)
• Impaired Hearing
• Oral
• Cavities
• Gingivitis
• Malocclusion
 YOU ARE CARING FOR A 12 YEAR OLD MALE WITH
CEREBRAL PALSY WHO HAS BEEN HOSPITALIZED FOR THE
4TH TIME THIS YEAR FOR ASPIRATION PNEUMONIA. WHICH
PHYSICIAN ORDER WOULD YOU QUESTION?

A. Regular diet
B. Oxygen therapy
C. Physical therapy
consult
D. Acetaminophen
PRN pain/fever
 CEREBRAL PALSY: THERAPEUTIC
• Physical, Occupational MANAGEMENT
and/or Speech Therapy
• Nursing: ROM to prevent
contractures is primary aim
(what type CP?); Involve
family; play Small pieces
of tendon
• Assistive devices for mobility cut out to
& ADLs; computers lengthen it
• Nursing: check skin
frequently with braces or
other assistive devices;
reposition often
• Surgery (to release tendons and
improve function)
CEREBRAL PALSY: MEDICATION
MANAGEMENT
• Mostly to manage associated
symptoms
• Antiepileptics
• Stimulants (if ADHD)
• Botox
• Paralyzes overactive muscles
• Skeletal muscle relaxants
• Dantrolene, Baclofen,
Methocarbamal
• Anxiolytics
• Bowel regimen
 CEREBRAL PALSY: THERAPEUTIC
MANAGEMENT
• Home care
• Coping with a chronic condition
• Support parents and siblings
• Resources?
• Education regarding inclusion in school
• Use of Assistive Devices & Exercise
• Proper Medication Administration
• Prevent skin breakdown & respiratory infections
• Nutrition (need for increased calories & rest for what type CP?)
• Play and recreation (e.g., offer toys to affected side; put toys at a distance to
encourage locomotion)
• Safety needs (e.g., prevent accidents; side rails on bed; no scatter rugs)
 CEREBRAL PALSY: NURSING
CARE
• Assessment and early
identification

• Reinforce therapeutic plan

• Positive reinforcement to
parents
• Offer suggestions and
brainstorm with parents

• Help improve all muscle tone

and control
 CEREBRAL PALSY: NURSING
CARE
• Address health maintenance needs
• Frequent rest periods needed for child because they
expend lots of energy in their efforts to accomplish their
ADLs
• Meet nutritional needs (may need G-tube or supplemental
feedings)
• Routine skin assessment
• Assist and advice regarding medication administration
• Don’t forget immunizations
• Safety precautions (wearing helmets when needed, home
adaption, modified car seats, etc)
 CEREBRAL PALSY: NURSING
CARE
• Family Support
• Support and help family cope with emotional aspects of
the chronic disorder
• Family support groups
• Appropriate home resources
• Lifts for larger children
• Assistive devices
• PT/OT/SLP therapy often
• Respite care may be very beneficial to parents.
CEREBRAL PALSY: NURSING CARE
CEREBRAL PALSY: NURSING
CARE
 MUSCULAR DYSTROPHY
A group of inherited disorders that all result in chronic muscle weakness
 MUSCULAR DYSTROPHY:
INCIDENCE
• Duchenne Muscular
Dystrophy (DMD) most
common type; occurs 1 :
3,500 male births

• Becker’s Muscular
Dystrophy occurs 1:
18,000 male births (less
severe than DMD)
 MUSCULAR DYSTROPHY:
MAJOR TYPES
• Pseudohypertrophic (Duchenne)
• More details to follow
• Limb-girdle & Facioscapulohumeral
• No further details as they are uncommon
 DUCHENNE MUSCULAR
DYSTROPHY
• Etiology
• X-linked disorder; mom passes the defective gene to male offspring
• OR a new mutation 30% of the time (mom is not a carrier of the faulty X
chromosome)
• Pathophysiology
• A mutation in the gene that encodes dystrophin
• Dystrophin is a protein product in muscles
• Absence of dystrophin leads to muscle degeneration
 DUCHENNE MD: EARLY CLINICAL
MANIFESTATIONS
• Onset usually between 3
and 5 years of age
• difficulty running, riding bike,
climbing stairs 1st symptoms
noted—this happens first
• Rapid progressive muscular
degeneration after initial
normal development
• Waddling gait
• Lordosis
• Positive Gower’s sign
 DUCHENNE MD: PROGRESSIVE
CLINICAL MANIFESTATIONS
• Pseudohypertrophy
• from fatty infiltration; muscles are
not larger themselves
• Muscular atrophy
• Ability to ambulate generally lost
by 10-12 years
• Facial and respiratory muscles
atrophy
• Cardiac or respiratory failure (most
common cause of death)
• Mild to moderate cognitive
impairment
• Median Age 27 years with
mechanical ventilation
 DUCHENNE MD:
COMPLICATIONS
• Contractures (Why?)
• Hips, knees, ankles & spine
• Atrophy of disuse
• Caused by inactivity
• Infections
• Especially respiratory
• Obesity
• Related to inactivity
• Cardiac manifestations
• Generally occur in the end stages Shows the progression of
DMD
 DUCHENNE MD: DIAGNOSIS
• Clinical manifestations present, then diagnostic evaluation
• Serum Enzymes
• Elevated CPK (serum creatinine phosphokinase)
• Elevated SGOT (serum glutamic-oxaloacetic transaminase)
• Muscle Biopsy
• Shows degeneration of muscle fibers
• Electromyogram (EMG)
• Shows decreased amplitude and duration of motor unit potentials
 DUCHENNE MD: THERAPEUTIC
GOALS
• Primary Goal: To maintain function in the unaffected
muscles as long as possible
• Range of motion
• Bracing
• Performing ADLs
• Surgery (to release contractures)

• Genetic Counseling – who?

 DUCHENNE MD: NURSING CARE
• Treat complications • Newer/experimental treatments to
SLOW progression
• Contractures & atrophy • Corticosteroids
• PT/OT, Orthotics • CT GalNAc transferase (blocks muscle
wasting)
• Nutrition • Glutamine and creatine monohydrate
• SLP therapy (preserve muscle strength)

• Respiratory failure • Palliative care

• Cough assist devices • Family and patient coping with
• Mechanical disease
ventilation/tracheostomy • Design a program to increase
• Vaccines to prevent lung infections independence (would include what?)
• Reduction of preventable disabilities
• Cardiac failure • Modifying the home environment
 YOU ARE CARING FOR A 5 YO MALE WITH
DUCHENNE’S MUSCULAR DYSTROPHY. CURRENTLY,
WHAT IS HIS PRIORITY NURSING DIAGNOSIS?
A. Risk for respiratory failure r/t
progressive loss of intercostal
muscle function
B. Risk for injury related to
decreased gross motor muscle
functioning
C. Risk for skin breakdown related
to decreased mobility
D. Ineffective coping r/t anger
regarding progressive muscular
function loss
 SPINA BIFIDA
Malformation of spine in which the posterior portion of the lamina of
vertebrae fails to close
Failure of the neural plate to develop into a tubular structure
 SPINA BIFIDA: ETIOLOGY
• Unknown
• Inadequate consumption of
the B vitamin folic acid
before conception and
during the first trimester
• Familial tendency
• More common in Caucasian
• More common in girls than
boys
 SPINA BIFIDA:
PATHOPHYSIOLOGY
• Neural tube fails to close
during the 4th week of
gestation
• Why is this an issue?
• The neural grove deepens to
form the neural tube
• The neural tube continues to
grow until the end of the 4th
week
• At the end of the 4th week
both ends of the neural tube
close
 SPINA BIFIDA: DIAGNOSIS
• Most diagnosed post-natally, but some defects visible (open with sac
only) on prenatal US
Prenatal Detection (16-18 weeks gestation)

• Diagnosis based on imaging of meningeal sac (US, CT, MRI)

• Neurological evaluation is ongoing because some clinical manifestations
will not be present until the child is developmentally delayed (failure to
potty train, etc)
 SPINA BIFIDA: TYPES
• Spina bifida occulta • Spina Bifida Cystica (visible
external saclike protrusion)
• Defect is only in vertebrae,
• Meningocele
spinal cord & meninges • An external sac encases meninges
normal and spinal fluid
• Defect not visible externally • Not associated with neurological
• Occurs in 10-30% of the deficit
general population • Myelomeningocele
• An external sac encases
• Generally have no
meninges, spinal fluid, and nerves
neurological involvement • The majority (90%) occur in the
• May see skin depression, lumbar or lumbosacral area
dimple, or tuft of hair in • Location and size of the lesion
lumbosacral area on determines the degree of
newborn assessment neurological deficit
Normal
SPINA BIFIDA: TYPES
Myelomeningocele
Occulta: Bony
prominence ONLY
– will this child
have neuro
deficits?

Meningocele:
bony, CSF, &
meninges – any
neuro deficits?

Myelomenigocele:
bony, CSF,
meninges, and
nerves
 MYELOMENINGOCELE: CLINICAL
MANIFESTATIONS
• Sac-like protrusion evident at birth
• 90-95% have hydrocephalus (S/S?)
• (s/s:_Enlarged head, bludging contanelles, sunset eyes, etc)
• Secondary to Arnold-Chiari malformation (downward displacement of
brain stem/cerebellum causing obstruction of CSF)

• Varying degrees of sensory and neurological dysfunction

• Poor muscle tone in the bladder
• Poor muscle tone in the rectum
• Flexion or extension contractures
 MYELOMENINGOCELE:
TREATMENT
• Surgery (see Hockenberry & Wilson, 2007, p. 434) – closure of sac
within 24-72 hours; if possible, within 12-18 hours to prevent
infection and preserve nerve roots; neurosurgeon & plastic
surgeon.
 MYELOMENINGOCELE: NURSING
CARE
• Pre-op
• Prevention of infection is primary goal (meningitis, UTI)
• Sac: moist, sterile NS, non-adherent dressing; no diaper
• UT: Keep genitalia clean; may need to catheterize
• Protection of lesion/sac is primary goal
• Positioning: prone
• Early closure of the sac (when?)
• Avoid taking rectal temps b/c of poor anal sphincter
tone which could result in rectal prolapse or lack of
bowel control
 MYELOMENINGOCELE: NURSING
• VS, weight, I&O, assess pain, observe CARE
incision, prone
Feed when awake, parents hold.
• Orthopedic interventions to improve
locomotion & prevent deformities post-op
• ROM (prevent contractures); Position changes
(prevent decubiti)

• Treatment of urinary incontinence

• Clean Intermittent Catheterization (can learn
self-cath by age 6)
• Urinary diversion
• Vesicotomy;Augmentation enterocystoplasty;
Mitrofanoff
 MYELOMENINGOCELE: NURSING
CARE
• Treatment of bowel incontinence
• Bowel training, prevention of constipation,
laxatives, digital stimulation, and enemas
• Dietary modifications
• Antegrade continence enema procedure
• Appendix or ileum is used to make catheterizable
channel with attachment of the proximal end to
the colon. The distal end of the channel exits
through a small abdominal stoma.
• Every 1-2 days an enema solution is instilled
directly into the colon, 20-30 min later the child
sits on the toilet and is able to have a bowel
movement as the stool is flushed out because of
the enema.
 MYELOMENINGOCELE: NURSING
CARE
• Accurate measurement of head circumference &
fontanel
• Assess s/s infection (meningitis; UTI; pneumonia)
• Provide adequate nutrition and hydration
• Latex free environment d/t increased incidence of
latex allergy
• Promote normal development
• Short stature –> growth hormone
 MYELOMENINGOCELE: NURSING
CARE
• Emotional support to family
• Encourage parents to take part in care
• Teach signs of complications
• Educate on neurosensory deficits
• Encourage developmental stimulation
• Modify appliances and activities
• Teach: skin care; urinary & bowel control
• Resources for spina bifida
 NEUROMUSCULAR IMPAIRMENT:
CRITICAL THINKING QUESTIONS
• Why do clinical manifestations of CP normally become evident during the
second half of a child’s 1st year of life?

• What does Gower’s sign indicate?

• What does it look like?

• What are the early signs and symptoms of Duchenne’s Muscular

Dystrophy?
 NEUROMUSCULAR IMPAIRMENT:
CRITICAL THINKING QUESTIONS
• What should be done preop to protect the neurological function of a child
with myelomeningocele?

• How would you determine the level of neuromuscular impairment in a

child with myelomeningocele?