Cerebral Palsy – Causes, Symptoms, Diagnosis, Treatment and Ongoing care

Basics

Description

Cerebral palsy (CP): A group of chronic disorders of movement and posture caused by nonprogressive lesions in the developing brain. Some activity limitation must result from the motor impairment, and this motor dysfunction may be accompanied by impairment in other areas.

Epidemiology

Incidence

  • Overall, 1.5–2.5 per 1,000 live births
  • Incidence increases as gestational age (GA) at birth decreases (1):
    • 146/1,000 for GA of 22–27 weeks
    • 62/1,000 for GA of 28–31 weeks
    • 7/1,000 for GA of 32–36 weeks
    • 1/1,000 for GA of 37+ weeks

Prevalence

3–4/1,000 of the population

Risk Factors

  • Prenatal:
    • Congenital anomalies
    • Multiple gestation
    • In utero stroke
    • Intrauterine infection (chorioamnionitis, TORCH)
    • Antepartum bleeding
    • Maternal factors (cognitive impairment, seizure disorders, hyperthyroidism)
    • Abnormal fetal position (e.g., breech)
  • Perinatal:
    • Preterm birth
    • Low birth weight
    • Periventricular leukomalacia
    • Perinatal hypoxia/asphyxia
    • Intracranial hemorrhage/intraventricular hemorrhage
    • Neonatal seizure or stroke
    • Hyperbilirubinemia
  • Postnatal:
    • Traumatic brain injury or stroke
    • Sepsis, meningitis, encephalitis
    • Asphyxia

Genetics

There are emerging reports of associations between cerebral palsy and candidate genes:

  • Thrombophilic, cytokines, and apolipoprotein E

General Prevention

  • Magnesium sulfate administration to mothers at risk for preterm delivery has a neuroprotective effect and reduces CP risk (2).
  • Improved management of hyperbilirubinemia with decrease in kernicterus has greatly reduced dyskinetic CP.
  • Prevention or reduction of chorioamnionitis and premature births (3)

Pathophysiology

  • Multifactorial; CP results from static injury or lesions in the developing brain, occurring prenatally, perinatally, or postnatally.
  • Cytokines and free radicals and inflammatory response are likely contributing factors.

Etiology

  • 50% of cases: Etiology is not established; most likely multifactorial.
  • Spastic CP is most common, usually related to premature birth, with either periventricular leukomalacia or germinal matrix hemorrhage.
  • Dyskinetic CP, often resulting from kernicterus, is now rare due to improved management of hyperbilirubinemia.

Commonly Associated Conditions

  • Seizure disorder (22–40%)
  • Cognitive impairment (23–44%)
  • Behavior difficulties
  • Speech and language disorders (42–81%)
  • Sensory impairments:
    • Hearing deficits
    • Visual (62–71%):
      • Poor visual acuity, strabismus (50%), or hemianopsia
  • Feeding impairment, swallowing dysfunction, and aspiration
  • Poor dentition, excessive drooling
  • Gastrointestinal conditions:
    • Constipation (59%), vomiting (22%), or gastroesophageal reflux
  • Decreased linear growth or osteopenia
  • Weight abnormalities (under- and overweight)
  • Bowel and bladder incontinence
  • Orthopedic: Contractures, hip subluxation/dislocation, or scoliosis

Cerebral palsy, Periventricular leukomalacia, Neurological Disorders, traumatic brain injury, congenital anomalies, low birth weight, premature births, seizure disorders, apolipoprotein e, motor dysfunction, kernicterus, multiple gestation, intrauterine infection,

Diagnosis

  • A clinical diagnosis including:
    • Delayed motor milestones
    • Abnormal tone
    • Abnormal neurological exam suggesting a cerebral etiology
    • Absence of regression
    • Absence of underlying syndromes or alternative explanation for etiology
  • Although the pathological lesion is static, clinical presentation may change as the infant grows and matures.
  • Accurate early diagnosis remains difficult. Neurologic abnormalities observed in the first 1–2 years of life may resolve. Caution against diagnosis of CP before age 2.

History

  • Presentation: Parental concerns over movements or motor development
  • Ask about:
    • Prenatal, perinatal, and postnatal risk factors
    • Neurobehavioral signs:
      • Poor feeding/frequent vomiting
      • Irritability
    • Timing of motor milestones:
      • Delay in milestones is not sensitive or specific until after 6 months of age.
    • Abnormal spontaneous general movements
    • Asymmetry of movements, such as early hand preference
    • Symptoms of other conditions
  • Regression of motor skills does not occur with cerebral palsy.

Physical Exam

  • Assess for 1 or more type of neurological impairment:
    • Spasticity: Increased tone/reflexes/clonus
    • Dyskinesia: Abnormal movements
    • Hypotonia: Decreased tone
    • Ataxia: Abnormal balance/coordination
  • Areas of exam:
    • Tone: May be increased or decreased.
    • Trunk and head control: Often poor, but may be advanced due to high tone
    • Persistence of primitive reflexes
    • Asymmetry of movement or reflexes
    • Brisk DTRs
    • Clonus
    • Delayed motor milestones:
      • Serial exams most effective
    • Gait and stance:
      • Scissoring gait
      • Toe-walking
  • Specific subtypes best diagnosed after 5 years of age:
    • Spastic hemiplegic CP:
      • Unilateral spasticity
    • Spastic diplegic CP:
      • Bilateral spasticity with leg > arm involvement
    • Spastic quadriplegic CP:
      • Bilateral spasticity with arm > or = leg involvement
    • Dyskinetic CP:
      • Dystonia-hypertonia and reduced movement
      • Choreoathetosis: Irregular spasmodic involuntary movements of the limbs or facial muscles
    • Ataxic CP:
      • Loss of orderly muscular coordination
    • Mixed

Diagnostic Tests & Interpretation

Cerebral palsy is a clinical diagnosis based on history, physical, and risk factors. Diagnostic tests rule out other conditions.

Lab

  • Laboratory testing is not needed to make diagnosis, but can sometimes help to exclude other etiologies.
  • Testing for metabolic and genetic syndromes (4):
    • Not routinely obtained in the evaluation for CP
    • If no specific etiology is identified by neuroimaging, or if there are atypical features in clinical presentation, genetic or metabolic testing may be useful.
    • Detection of certain brain malformations may warrant genetic or metabolic testing to identify syndromes.
  • Screening for coagulopathies:
    • Diagnostic testing for coagulopathies should be considered in children with hemiplegic CP with cerebral infarction identified on neuroimaging (4)[C].

Imaging

  • Neuroimaging is not essential, but recommended in children with CP for whom the etiology has not been established (4)[C].
  • Magnetic resonance imaging (MRI) is preferred to computed tomography (CT) scanning (4)[C].
  • Abnormalities in 80–90% of patients (5)[A]:
    • Brain malformation, cerebral infarction, intraventricular or other intracranial hemorrhage, periventricular leukomalacia, ventricular enlargement, or other cerebrospinal fluid (CSF) space abnormalities

Diagnostic Procedures/Surgery

  • Assessing the functional impact of cerebral palsy can help to determine appropriate services and prognosis:
    • The Gross Motor Function Classification System is commonly used
    • A score of II or higher is considered significant. A score of IV or V indicates more severe involvement.
  • Screening for comorbid conditions: Developmental delay/cognitive impairment, basion/hearing impairments, speech and language disorders, or feeding/swallowing dysfunction

Pathological Findings

Perinatal brain injury may include:

  • White matter damage:
    • Most common in premature infants
    • Periventricular leukomalacia:
      • Gliosis with or without focal necrosis with resulting cysts and scarring
      • May be multiple lesions of various ages
      • Necrosis can lead to cysts/scarring.
    • Germinal matrix hemorrhage:
      • May lead to intraventricular hemorrhage
  • Grey matter damage:
    • More common in term infants
    • Cortical infarcts, focal neuronal damage, myelination abnormalities

Differential Diagnosis

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Benign congenital hypotonia, Brachial plexus injury, Familial spastic paraplegia, Dopa-responsive dystonia, Transient toe-walking, Muscular dystrophy, Metabolic disorders (e.g., glutaric aciduria type 1), Mitochondrial disorders, Genetic disorders (e.g., Rett syndrome)

Treatment

Focuses on control of symptoms: Spasticity, management of comorbid conditions, improvement in functioning, and quality of life

Medication

First Line

  • Baclofen (6)[C]:
    • γ-aminobutyric acid B (GABAB) agonist, facilitates presynaptic inhibition of mono- and polysynaptic reflexes
    • Adults: Initial dose is 5 mg t.i.d. and increase dosage every 3 days to an average maintenance dose of 20 mg t.i.d. 80 mg/24-hr maximum
    • Pediatric dose (>2 y/o): Initial 10–15 mg/24 hrs. Titrate to effective dose. <8 y/o = 40 mg/24 hrs. maximum. >8 y/o 60 mg/24 hrs. maximum
  • Intrathecal Baclofen (Baclofen Pump):
    • Continuous intrathecal route allows greater maximal response with smaller dosage
    • Significantly reduces spasticity in children with cerebral palsy
    • Multiple adverse effects due to catheter placement and medication side effects
  • Diazepam (6)[C]:
    • A GABAA agonist, facilitating CNS inhibition at spinal and supraspinal levels to reduce spasticity
    • Adult dose: 2–12 mg/dose p.o. q6–12 hrs.
    • Pediatric dose (<12 yrs): 0.12–0.8 mg/kg/24 h. p.o., divided q6–8h.
  • Botulinum toxin type A:
    • Injected directly into muscles of interest
    • Acts at neuromuscular junction to inhibit the release of acetylcholine
    • Chemically denervates muscles, reducing tone
    • Lasts for 12–16 weeks following injection

Second Line

The following medications are used far less frequently:

  • Dantrolene:
    • Limits calcium release from muscles, reducing spasticity
    • Adult dosing: 25 mg p.o. daily titrated to effective dose, maximum 100 mg p.o. q.i.d.
    • Pediatric dosing: 0.5 mg/kg p.o. daily titrated to effective dose, maximum 12 mg/kg/24 hrs.
  • Tizanidine and other α-adrenergic agents:
    • α-adrenergic agonist, presynaptically inhibits motor activation, reducing spasticity
    • Adult dosing: 4 mg/day p.o., titrate to effective dose, up to 8 mg p.o. q4–6h, 36 mg/24 hrs. maximum
  • Gabapentin:
    • Anticonvulsant structurally similar to GABA, increases levels of GABA in brain and reduces spasticity
    • Adult dosing: Titrate to starting dose 100 mg t.i.d. starting dosage, maximum dose 3600 mg/day in divided dosing

Additional Treatment

  • Care needs to be multidisciplinary, usually including specialists from orthopedics, neurology, ophthalmology, and physiatry, as well as physical, occupational, and speech therapists.
  • “Medical home” with PCP (7) which requires:
    • Identification of patient’s and family’s needs for support, respite, and community resources
    • Care coordination among medical providers and with community agencies
    • Collaboration with schools and transition to adult care

General Measures

  • Referral to early intervention for children ages 0–3 is essential.
  • Various therapy modalities enhance functioning:
    • Physical therapy: Posture stability and gait, motor strength and control, contracture prevention
    • Occupational therapy: Functional activities of daily living and other fine motor skills
    • Speech therapy: Verbal and nonverbal speech and aid in feeding
  • Equipment optimizes participation in activities:
    • Orthotic splinting: Maintains functional positioning and prevents contractures
      • AFOs (ankle-foot orthosis)
      • DAFOs (dynamic ankle-foot orthosis)
    • Spinal bracing (body jacket) may slow scoliosis.
    • Augmentative communication: Pictures, switches, or computer systems for nonverbal individuals
    • Electrical stimulation: Therapeutic and functional
    • Use of adaptive equipment such as standers to allow weight bearing
    • Mobility: Crutches, walkers, wheelchairs

Complementary and Alternative Medicine

  • Hyperbaric oxygen: Conflicting results
  • Hippotherapy: Therapeutic horse riding
  • Aquatic therapy

Surgery/Other Procedures

  • Dorsal root rhizotomy: Selectively cutting dorsal rootlets from L1–S2:
    • Best for patients with normal intelligence with spastic diplegia
    • Minimizes spasticity in lower limbs, but associated with adverse effects
  • Surgical treatment of joint dislocations/subluxation, scoliosis management, tendon lengthening, etc.

Ongoing Care

Prognosis

Reduced lifespan only in most severely affected.

References

1. Himpens E, Van den Broeck C, Oostra A et al. Prevalence, type, distribution, and severity of cerebral palsy in relation to gestational age: a meta-analytic review. Dev Med Child Neurol. 2008;50:334–40.

2. Doyle LW, Crowther CA, Middleton P, et al. Magnesium sulphate for women at risk of preterm birth for neuroprotection of the fetus. Cochrane Database Syst Rev. 2009:CD004661.

3. Shatrov JG, Birch SC, Lam LT et al. Chorioamnionitis and cerebral palsy: a meta-analysis. Obstet Gynecol. 2010;116:387–92.

4. Ashwal S, Russman BS, Blasco PA, et al. Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2004;62:851–63.

5. Korzeniewski SJ, Birbeck G, Delano MC, et al. A systematic review of neuroimaging for cerebral palsy. J Child Neurol. 2008;23:216–27.

6. Montané E, Vallano A, Laporte JR. Oral antispastic drugs in nonprogressive neurologic diseases: a systematic review. Neurology. 2004;63:1357–63.

7. Cooley WC, American Academy of Pediatrics Committee on Children With Disabilities. Providing a primary care medical home for children and youth with cerebral palsy. Pediatrics. 2004;114:1106–13.

Codes

ICD9

  • 343.0 Congenital diplegia
  • 343.1 Congenital hemiplegia
  • 343.2 Congenital quadriplegia
  • 343.3 Congenital monoplegia
  • 343.8 Other specified infantile cerebral palsy
  • 343.9 Infantile cerebral palsy, unspecified

Snomed

  • 128188000 Cerebral palsy (disorder)
  • 275469001 Congenital diplegia (disorder)
  • 43486001 Hemiplegic cerebral palsy (disorder)
  • 275468009 Congenital quadriplegia (disorder)
  • 56409008 Monoplegic cerebral palsy (disorder)
  • 230772000 infantile cerebral palsy (disorder)

Clinical Pearls

  • Management should focus on maximizing functioning and quality of life with multidisciplinary team approach.
  • Regression of motor skills does not occur with cerebral palsy.

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