Download Cerebral Palsy RITE review

CEREBRAL PALSY
RITE Review
2/2017
Lisa Matlen, PGY-IV
Image: cerebralpalsy.org.au
CEREBRAL PALSY DEFINITION
• Group of clinical syndromes with a range in severity,
characterized by abnormal muscle tone, posture, and
movement
• Caused by abnormalities during early brain
development
• Static (not progressive), but clinical signs evolve over
time with nervous system development
Note: overlap in clinical features of syndromes, variable expression
Photo: netterimages.com
SPASTIC DIPLEGIA (13-25%)
• Risk factors:
• Preterm infants
• Presentation:
• First few months: hypotonic upper limbs, delayed
milestones
• 6 months: spasticity of ankle plantar flexors and hip
adductors
• >5y:
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Lower limbs worse than upper limbs
Contractures at hips, hamstrings
Reduced limb length and muscle bulk at BLE
Variable degrees of flexion at knees/elbows
SPASTIC HEMIPLEGIA (2040%)
• Risk factors:
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Neonatal stroke
Brain maldevelopment
Prenatal circulatory disturbances
Usually term infants with normal birth weight
SPASTIC HEMIPLEGIA (2040%)
• Presentation (infant/toddler):
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Motor asymmetry
Early hand preference <12mo
Abnormal posturing
Prone: decreased support using affected upper limb,
decreased mvt affected leg
Sitting: affected leg extends
Protective reflexes at 5-8mo asymmetric
1-2y: low tone on affected side followed by increased
tone and DTRs
Typical posture usually develops by age 2
SPASTIC HEMIPLEGIA (2040%)
• Presentation (>5y):
• One side of the body usually affected, and usually arm
moreso than leg
• Shoulder adducts, elbow flexed, forearm pronated,
wrist/fingers flexed and closed
• Hip partially flexed/adducted, knee/ankle flexed
• Most children also have sensory deficits
• Mild presentation: postural asymmetries more prominent
during walking, but usually independent walking
achieved at appropriate age or only mildly delayed
SPASTIC QUADRIPLEGIA
(20-43%)
• Risk factors:
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Congenital infection
Cerebral dysgenesis
Perinatal or postnatal events
Most commonly in term SGA infants, but also in preterm
infants
SPASTIC QUADRIPLEGIA
(20-43%)
• Presentation (infant/toddler):
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Moderate or severe psychomotor delay
Poor head control
Spasticity may occur by 2-3mo
Adduction at thighs  scissoring posture
By 9-10mo, when pulled to sitting position, unable to flex
at the legs and have poor truncal balance
SPASTIC QUADRIPLEGIA
(20-43%)
• Presentation (>5y)
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All limbs affected
Upper limbs equally or more involved than lower limbs
Often severely handicapped
Feeding, respiratory difficulties common
DYSKINETIC SYNDROMES
(12-14%)
• Risk factors:
• Most caused by severe perinatal asphyxia  injury to
thalamus, basal ganglia, hippocampus, reticular
formation, &/or cerebellum
• Severe hyperbilirubinemia (kernicterus) may cause
choreoathetotic CP
• Term infants
DYSKINETIC SYNDROMES
(12-14%)
• Presentation (early infancy):
• Reduced spontaneous movement
• Hypotonic at rest, variable tone with movement or
emotion
• Oromotor incoordination
• Persistent primitive reflexes
• Involuntary grimacing
• Drooling
• Delayed motor milestones
DYSKINETIC SYNDROMES
(12-14%)
• Presentation (2-3y)
• Involuntary movements are apparent
• Abnormal posturing:
• Extension patterns while supine
• Flexion with shoulder retraction while prone
• Head usually persistently turned toward one side
• Presentation (5y)
• Involuntary movements
• Contractures uncommon
• Variable degree of dysarthria and intellectual disability
DYSKINETIC SYNDROMES
(12-14%)
• Choreoathetotic CP (age 5+):
• Chorea: rapid, unpredictable contractions of individual
muscles or small muscle groups involving face, bulbar
muscles, proximal extremities, fingers, toes
• Athetosis: slow, smooth, writhing movements of distal
muscles. Most apparent during reaching
• Movements may be induced or accentuated by
emotion, change in posture
• Stress, excitement, or fever may exacerbate chorea
• Primitive reflexes often maintained
• Oropharyngeal difficulties common
DYSKINETIC SYNDROMES
(12-14%)
• Dystonic CP (age 5+)
• Repetitive, patterned, twisting, sustained movements of
trunk and limbs, may be slow or rapid
• Pyramidal signs, anarthria (loss of articulate speech) may
occur
• “Tension” – sudden involuntary inc in tone affecting both
flexors and extensors during emotion or attempted
movement
• DTRs normal or difficult to elicit
• Clonus, extensor plantar reflexes are absent
https://radiopaedia.org/articles/molar-tooth-sign-cns-1
ATAXIC CP (4-13%)
• Risk factors:
• Most caused by prenatal events
• Some genetic causes:
• Cerebellar hypoplasia
• Granule cell deficiency
• Joubert syndrome (rare genetic disorder, a “ciliopathy,”
primarily involving cerebellar vermis hypoplasia/malformed
brainstem with “molar tooth sign”, co-occurs with other
anomalies)
• Term infants
ATAXIC CP (4-13%)
• Presentation (infant/toddler):
• Hypotonia, incoordination
• Motor milestones, language milestones delayed
• Presentation (5+y)
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Ataxic movements
Widespread disorder of motor function
Ataxia usually improves over time
Speech slow, jerky, explosive
• **Note: separate category of “hypotonic CP” will not
be further discussed, absent from contemporary
classifications. Most eventually develop into a different
type of CP (spastic, dyskinetic, or most frequently
ataxic)
GROSS MOTOR FUNCTION
CLASSIFICATION SYSTEM
• Level I: Walks without limitations
• Level II: Walks with limitations
• Can walk without hand-held device after age 4
• Limitations in long-distance walking and balance, may need
hand-held device when first learning to walk, may used
wheeled mobility in the community, railing for stairs, not as
capable at running and jumping
• Level III: Walks using a hand-held mobility device
• Can sit self-supported or at most limited external support for
sitting
• Level IV: Self-mobility with limitations; may use powered
mobility
• Level V: Transported in a wheelchair
COMORBIDITIES
• Pain (50 to 75 percent)
• Intellectual disability (50 percent)
• Severity usually correlates with extent of motor handicap
• Speech-language disorders (40 percent)
• Epilepsy (25 to 40 percent)
• Visual impairment (30 percent)
• Hip displacement (30 percent)
• Behavior disorder (25 percent)
• Autism (7 percent; higher if non-spastic)
• Bladder control problems (30 to 60 percent)
• Sleep disorder (20 percent)
• Drooling (20 percent)
• Hearing impairment (10 to 20 percent)
• Gastrostomy-tube dependence (7 percent)
QUESTIONS
2014: 341
• A child presents with high tone deafness, inability to
look upward without thrusting his head upward, incisor
teeth enamel hypoplasia and severe athetosis. How
could this have been prevented?
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A. Prevention of maternal exposure to TORCH infection
B. Phototherapy and exchange transfusion
C . Prevention of maternal exposure to drugs of abuse
D. More timely delivery to prevent hypoxic ischemic injury
• Answer: Kernicterus – treatment – prevention of
worsening hyperbilirubinemia
• Cerebral palsy is a clinical diagnosis that describes a
nonprogressive delay in motor development. A
diagnosis of cerebral palsy does not define its etiology.
This clinical picture describes the classic tetrad of
chronic bilirubin encephalopathy (kernicterus): severe
athetosis, perceptive high tone deafness, supranuclear
palsy of upward gaze, and enamel hypoplasia of the
incisor teeth.
2014: 44
• Which of the following is associated with status
marmoratus?
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A. Gliosis of basal ganglia
B. Neonatal stroke
C. Prenatal circulatory disturbances
D. Congenital infection
• Answer: Gliosis of basal ganglia
• Gliosis of the basal ganglia causes status marmoratus. It
is thought to be from poor central perfusion (usually
complete acute asphyxia in full-term infants), and
when present is highly associated with athetoid or
dystonic cerebral palsy. The other abnormalities are
associated with cerebral palsy, but are more often
seen in spastic forms.
2014: 21 & 2010: 412
• You are consulted on a child in the NICU. She was born
full-term to a G1P1 mother, complicated by poor fetal
movement. Upon delivery, she was diffusely hypotonic,
areflexic, with a narrow upper chest, and her course
has been complicated by difficulty eating, respiratory
distress. The remainder of her general exam is benign.
Which of the following diagnoses is most likely?
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A. SMA I
B. Cerebral palsy
C. Gaucher disease
D. Congenital myopathy
• Answer: SMAI.
• Spinal muscular atrophy I usually presents with
hypotonia, areflexia, paradoxical respiration with
narrow upper chest, tongue fasciculations, and
progresses to difficulty swallowing, then respiratory
distress. While infants with cerebral palsy may be
initially hypotonic, they are generally hyperreflexic
(note it may not be wrong to conclude hypotonia with
CP, but the question was asking most likely). Infants
with infantile Gaucher disease generally present with
stiffness, not initial hypotonia, and have organomegaly
at onset. Muscle stretch reflexes in children with a
congenital myopathy are usually present but may be
difficult to elicit due to weakness.
2013: 425**
• Which of the following medications provides long-term
benefit for treatment of spasticity related to cerebral
palsy?
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A. Oral baclofen
B. Tizanidine
C. Dantrolene
D. Botulinum toxin
E. None of the above
• Answer: None of the above
• Although oral baclofen, tizanidine, dantrolene and
various benzodiazepines are commonly used, no class I
studies support efficacy in reduction of spasticity in
children with cerebral palsy (CP). Botulinum type A has
been the subject of at least 15 class I (double-blind,
placebo comparison) studies. While spasticity reduction
can be demonstrated, and the agent is labeled for CP,
functional improvement is not universally seen.
2016: 160
• Which of the following medications is recommended
for treatment of localized spasticity?
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A. Oral baclofen
B. Tizanidine
C. Dantrolene
D. Botulinum toxin
E. None of the above
• Now changed recommendations to botulinum
• For localized spasticity, Botulinum Toxin type A was
established as an effective treatment to reduce spasticity in
an AAN Practice Parameter from 2010. Tizanidine was
deemed possibly effective but there was limited data about
side effect profile and its effect on function for generalized
spastcity Diazepam was deemed probably effective but
there limited day available about its effect on function and
side effects. There was also insufficient data on the use of
dantrolene, oral baclofen, and intrathecal baclofen.
Therefore, for localized/segmental spasticity that warrants
treatment, it was recommended that Botulinum toxin type A
be offered as an effective and generally safe treatment
(Level A).
2013: 39 & 2010: 72 &
2016: 174
• Match the following clinical scenario with its name:
choreoathetoid CP, lack of volunatary upgaze,
sensorineural hearing loss, bilirubin >25mcg/mL
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A. Lesch-Neyhan syndrome
B. Pelizaeus-Merzbacher
C. Hyperbilirubinemia
D. Kernicterus
• Answer: Kernicterus
• The manifestations of full-blown kernicterus (bilirubin
encephalopathy) include choreoathetoid cerebral
palsy, abnormal voluntary eye movements with lack of
upgaze, and sensorineural hearing loss. In otherwise
well term infants, indirect bilirubin is generally higher
than 25 mcg/ml prior to any neurologic sequelae, and
jaundice is clinically obvious. The manifestations of the
listed inborn errors of metabolism may include
choreoathetosis, but cognitive function is invariably
affected in untreated patients
2011: 153
• Which of the following most commonly leads to status
marmoratus?
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A. Cerebral dysgenesis
B. Congenital infection
C. Congenital stroke
D. Perinatal poor central perfusion
• Answer: poor central perfusion
• Gliosis of the basal ganglia causes status marmoratus. It
is thought to be from poor central perfusion, and when
present is highly associated with athetoid or dystonic
cerebral palsy. The other abnormalities are associated
with cerebral palsy, but are more often seen in spastic
forms.
2002: 131
• Which of the following abnormalities is most likely to cooccur with hemiplegic CP?
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A. Scoliosis
B. Failure to thrive
C. Learning disabilities
D. Abnormal head circumference
• Answer: Learning disabilities
• Hemiplegic cerebral palsy (CHP) is the most common
CP syndrome among children born at term and is most
commonly the result of cerebral infarction. Scoliosis
occurs in only 10-20% of children with CHP, and is often
mild. Likewise, general growth (height and weight) is
not impaired, and the head circumference is normal in
85-90%. About 20% of children with CHP have learning
disabilities.
• Lisa disagrees - per Up To Date: growth failure is common:
23% in one study. Primarily due to poor nutrition
(inadequate intake, high GI comorbidity rate)
2004: 131 & 2010: 161
• Which of the following clinical scenarios would fit a
patient with chronic weakness with EMG/NCS findings
supporting decreased number of large motor units,
firing rapidly, with no sensory change?
• A. Latent polio
• B. Charcot Marie Tooth
• C. CIDP
• D. Tabes Dorsalis
• E. Cerebral palsy
• Answer: Latent polio (a chronic motor neuropathy)
• Decreased number of large motor units, firing rapidly, is
consistent with a chronic motor neuropathy, as seen in
old polio. HMSN would have sensory abnormalities in
NCS, as would CIDP and tabes dorsalis. Cerebral palsy
would give decreased number of normal size MUAPs,
firing slowly.
2007: 409
• A 13-month old child presents to clinic with delayed
motor milestones, early right hand preference, is
otherwise healthy. You suspect cerebral palsy. Which
diagnostic studies do you recommend as part of initial
workup?
• A. Head CT
• B. Brain MRI
• C. EEG
• D. None of the above
• E. B and C
• Answer: Brain MRI
• Cerebral palsy is nonprogressive disease, and the study
with the highest yield is MRI. The proper diagnosis
of cerebral palsy excludes progressive or degenerative
disorders. If the MRI is normal or nondiagnostic, further
tests could be ordered. An EEG should be obtained
only with a positive history of seizure-like events.
2010: 72
• What is the most common cause of congenital
hemiparesis?
• A. Infantile dural venous sinus thrombosis
• B. Arteriovenous malformation
• C. Hemimegalencephaly
• D. Subdural hemorrhage
• E. Perinatal MCA infarction
• Answer: MCA infarction
• Prenatal or postnatal middle cerebral artery infarction is
the most common cause of congenital hemiparesis.
About 1/6000 uncomplicated live births have an arterial
infarction. In most instances no clear etiologic factors
can be identified. Children are usually normal at birth,
although those with perinatal infarctions may manifest
seizures, usually restricted to the hand. Far less
commonly encountered etiologies include subdural
hemorrhage, arteriovenous malformations, or
hemimegalencephaly, and in such instances additional
findings or a more eventful history are often
encountered. Unilateral infantile venous sinus
thrombosis is rare and is seldom an occult process.
2014: 65
• An adolescent presents to your clinic with progressive
abnormal foot posture which has now generalized to
his entire body. Symptoms improve after a good night’s
sleep and are worse at the end of the day. There is no
cognitive impairment. His father was similarly affected.
What treatment do you recommend?
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A. Levetiracetam
B. Sinemet
C. Clonidine
D. No medication recommended
• Answer: Sinemet (dopamine)
• Note that cerebral palsy is not progressive! Doparesponsive dystonia (DRD) presents in childhood as a
progressive dystonia in children without a history of
cerebral palsy or cognitive delay. It typically starts in a
foot and progresses to become generalized; the most
common inheritance pattern is autosomal dominant.
The disease is unique for its robust and sustained
response to low doses of levodopa. Its most notable
characteristic is a diurnal variation, with symptoms
usually more severe towards the end of the day and
improved in the morning