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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: • • • • 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: • • • • Neonatal stroke Brain maldevelopment Prenatal circulatory disturbances Usually term infants with normal birth weight SPASTIC HEMIPLEGIA (2040%) • Presentation (infant/toddler): • • • • • • • • 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: • • • • 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): • • • • • 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) • • • • 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) • • • • 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? • • • • 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? • • • • 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? • • • • 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? • • • • • 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? • • • • • 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 • • • • 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? • • • • 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? • • • • 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? • • • • 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