Cerebral palsy (CP) is a group of syndromes that causes nonprogressive spasticity, ataxia, or involuntary movements; it is not a specific disorder or single syndrome. CP syndromes occur in 0.1 to 0.2% of children and affect up to 15% of premature infants.
Etiology of CP Syndromes
Etiology of cerebral palsy is multifactorial, and a specific cause is sometimes hard to establish. Prematurity Premature Infants An infant born before 37 weeks gestation is considered premature. Prematurity is defined by the gestational age at which infants are born. Previously, any infant weighing 2.5 kg was termed premature... read more , in utero disorders, neonatal encephalopathy, and kernicterus Kernicterus Kernicterus is brain damage caused by unconjugated bilirubin deposition in basal ganglia and brain stem nuclei. Normally, bilirubin bound to serum albumin stays in the intravascular space. However... read more often contribute. Perinatal factors (eg, perinatal asphyxia, stroke Intracranial Hemorrhage The forces of labor and delivery occasionally cause physical injury to the infant. The incidence of neonatal injury resulting from difficult or traumatic deliveries is decreasing due to increasing... read more , central nervous system [CNS] infections Overview of Neonatal Infections Neonatal infection can be acquired In utero transplacentally or through ruptured membranes In the birth canal during delivery (intrapartum) From external sources after birth (postpartum) Common... read more ) probably cause 15 to 20% of cases.
Examples of types of CP are
Spastic diplegia after premature birth
Spastic quadriparesis after perinatal asphyxia
Athetoid and dystonic forms after perinatal asphyxia or kernicterus
CNS trauma or a severe systemic disorder (eg, stroke, meningitis, sepsis, dehydration) during early childhood (before 2 years of age) may also cause CP.
Symptoms and Signs of CP Syndromes
Before a specific syndrome develops, symptoms include lagging motor development and often persistent infantile reflex patterns, hyperreflexia, and altered muscle tone.
Categories of cerebral palsy syndromes
Syndromes are categorized mainly as one of the following, depending on which parts of the CNS are malformed or damaged:
Spastic syndromes occur in > 70% of cases. Spasticity is a state of resistance to passive range of motion; resistance increases with increasing speed of that motion. It is due to upper motor neuron involvement and may mildly or severely affect motor function. These syndromes may cause hemiplegia, quadriplegia, diplegia, or paraplegia. Usually, deep tendon reflexes in affected limbs are increased, muscles are hypertonic, and voluntary movements are weak and poorly coordinated. Joint contractures develop, and joints may become misaligned. A scissors gait and toe walking are typical. In mild cases, impairment may occur only during certain activities (eg, running). Corticobulbar impairment of oral, lingual, and palatal movement, with consequent dysarthria or dysphagia, commonly occurs with quadriplegia.
Athetoid or dyskinetic syndromes occur in about 20% of cases and result from basal ganglia involvement. The syndromes are defined by slow, writhing, involuntary movements of the proximal extremities and trunk (athetoid movements), often activated by attempts at voluntary movement or by excitement. Abrupt, jerky, distal (choreic) movements may also occur. Movements increase with emotional tension and disappear during sleep. Dysarthria occurs and is often severe.
Ataxic syndromes occur in < 5% of cases and result from involvement of the cerebellum or its pathways. Weakness, incoordination, and intention tremor cause unsteadiness, a wide-based gait, and difficulty with rapid or fine movements.
Mixed syndromes are common—most often with spasticity and athetosis.
Findings associated with cerebral palsy
About 25% of patients, most often those with spasticity, have other manifestations. Strabismus Strabismus Strabismus is misalignment of the eyes, which causes deviation from the parallelism of normal gaze. Diagnosis is clinical, including observation of the corneal light reflex and use of a cover... read more and other visual defects may occur. Children with athetosis due to kernicterus commonly have nerve deafness and upward gaze paralysis.
Many children with spastic hemiplegia or paraplegia have normal intelligence; children with spastic quadriplegia or a mixed syndrome may have severe intellectual disability Intellectual Disability Intellectual disability is characterized by significantly subaverage intellectual functioning (often expressed as an intelligence quotient 70 to 75) combined with limitations of adaptive functioning... read more .
Diagnosis of CP Syndromes
Sometimes testing to exclude hereditary metabolic or neurologic disorders
If CP is suspected, identifying the underlying disorder is important. History may suggest a cause. A brain MRI can detect abnormalities in most cases.
CP can rarely be confirmed during early infancy, and the specific syndrome often cannot be characterized until 2 years of age. High-risk children (eg, those with evidence of asphyxia, stroke, periventricular abnormalities seen on cranial ultrasonography in premature infants, jaundice, meningitis, neonatal seizures, hypertonia, hypotonia, or reflex suppression) should be followed closely.
CP should be differentiated from progressive hereditary neurologic disorders and disorders requiring surgical or other specific neurologic treatments.
Ataxic forms are particularly hard to distinguish, and in many children with persistent ataxia, a progressive cerebellar degenerative disorder is ultimately identified as the cause.
Athetosis, self-mutilation, and hyperuricemia in boys indicate Lesch-Nyhan syndrome Lesch-Nyhan syndrome Purines are key components of cellular energy systems (eg, ATP, NAD), signaling (eg, GTP, cAMP, cGMP), and, along with pyrimidines, RNA and DNA production. Purines may be synthesized de novo... read more .
Cutaneous or ocular abnormalities may indicate tuberous sclerosis complex Tuberous Sclerosis Complex (TSC) Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. Diagnosis requires specific clinical criteria and imaging... read more , neurofibromatosis Neurofibromatosis Neurofibromatosis refers to several related disorders that have overlapping clinical manifestations but that are now understood to have distinct genetic causes. It causes various types of benign... read more , ataxia-telangiectasia Ataxia-Telangiectasia Ataxia-telangiectasia results from a DNA repair defect that frequently results in humoral and cellular deficiency; it causes progressive cerebellar ataxia, oculocutaneous telangiectasias, and... read more , von Hippel–Lindau disease Von Hippel–Lindau Disease (VHL) Von Hippel–Lindau disease is a rare hereditary neurocutaneous disorder characterized by benign and malignant tumors in multiple organs. Diagnosis is made using clinical criteria and/or molecular... read more , or Sturge-Weber syndrome Sturge-Weber Syndrome Sturge-Weber syndrome is a congenital vascular disorder characterized by a facial port-wine nevus, a leptomeningeal angioma, and neurologic complications (eg, seizures, focal neurologic deficits... read more .
Infantile spinal muscular atrophy, muscular dystrophies, and neuromuscular junction disorders associated with hypotonia and hyporeflexia usually lack signs of cerebral disease.
Adrenoleukodystrophy X-linked adrenoleukodystrophy Peroxisomes are intracellular organelles that contain enzymes for beta-oxidation. These enzymes overlap in function with those in mitochondria, with the exception that mitochondria lack enzymes... read more begins later in childhood, but other leukodystrophies begin earlier and may be mistaken for CP at first.
Identification of a cause
When history and/or brain MRI does not clearly identify a cause, laboratory tests should be done to exclude certain progressive storage disorders that involve the motor system (eg, Tay-Sachs disease Tay-Sachs Disease and Sandhoff Disease Tay-Sachs disease and Sandhoff disease are sphingolipidoses, inherited disorders of metabolism, caused by hexosaminidase deficiency that causes severe neurologic symptoms and early death. Gangliosides... read more , metachromatic leukodystrophy Metachromatic Leukodystrophy Metachromatic leukodystrophy is a sphingolipidosis, an inherited disorder of metabolism, caused by arylsulfatase A deficiency. There are several forms, the most severe of which causes progressive... read more , mucopolysaccharidoses Mucopolysaccharidoses (MPS) Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. Inherited defects... read more ) and metabolic disorders Introduction to Inherited Disorders of Metabolism Most inherited disorders of metabolism (also called inborn errors of metabolism) are caused by mutations in genes that code for enzymes; enzyme deficiency or inactivity leads to Accumulation... read more (eg, organic or amino acid metabolism disorders Overview of Amino Acid and Organic Acid Metabolism Disorders The kidneys actively reabsorb significant amounts of amino acids. Defects of amino acid transport in the renal tubule include cystinuria and Hartnup disease, which are discussed elsewhere. Amino... read more ).
Other progressive disorders (eg, infantile neuroaxonal dystrophy) may be suggested by nerve conduction studies and electromyography. These and many other brain disorders that cause CP (and other manifestations) are being increasingly identified with genetic testing, which may be done to check for a specific disorder or to screen for many disorders (microarray and whole exome testing).
Prognosis for CP Syndromes
Most children survive to adulthood. Severe limitations in sucking and swallowing, which may require feeding by gastrostomy tube, decrease life expectancy.
The goal is for children to develop maximal independence within the limits of their motor and associated deficits. With appropriate management, many children, especially those with spastic paraplegia or hemiplegia, can lead near-normal lives.
Treatment of CP Syndromes
Physical and occupational therapy
Braces, constraint therapy, drugs, or surgery to treat spasticity
Botulinum toxin injections
Physical therapy and occupational therapy for stretching, strengthening, and facilitating good movement patterns are usually used first and are continued. Bracing, constraint therapy, and drugs may be added.
Botulinum toxin may be injected into muscles to decrease their uneven pull at joints and to prevent fixed contractures.
Baclofen, benzodiazepines (eg, diazepam), tizanidine, and sometimes dantrolene may diminish spasticity. Intrathecal baclofen (via subcutaneous pump and catheter) is the most effective treatment for severe spasticity.
Orthopedic surgery (eg, muscle-tendon release or transfer) may help reduce restricted joint motion or misalignment. Selective dorsal rhizotomy, done by neurosurgeons, may help a few children if spasticity affects primarily the legs and if cognitive abilities are good.
When intellectual limitations are not severe, children may attend mainstream classes and take part in adapted exercise programs and even competition. Speech training or other forms of facilitated communication may be needed to enhance interactions.
Some severely affected children can benefit from training in activities of daily living (eg, washing, dressing, feeding), which increases their independence and self-esteem and greatly reduces the burden for family members or other caregivers. Assistive devices may increase mobility and communication, help maintain range of motion, and help with activities of daily living. Some children require varying degrees of lifelong supervision and assistance.
Many children's facilities are establishing transition programs for patients as they become adults and have fewer supports to help with special needs.
Parents of a child with chronic limitations need assistance and guidance in understanding the child’s status and potential and in dealing with their own feelings of guilt, anger, denial, and sadness (see Effects on the family Effects on the family Chronic health conditions (both chronic illnesses and chronic physical disabilities) are generally defined as those conditions that last > 12 months and are severe enough to create some limitations... read more ). These children reach their maximal potential only with stable, sensible parental care and the assistance of public and private agencies (eg, community health agencies, vocational rehabilitation organizations, lay health organizations such as United Cerebral Palsy).
Cerebral palsy is a syndrome (not a specific disorder) that involves nonprogressive spasticity, ataxia, and/or involuntary movements.
Etiology is often multifactorial and sometimes unclear but involves prenatal and perinatal factors that are associated with central nervous system (CNS) malformation or damage (eg, genetic and in utero disorders, prematurity, kernicterus, perinatal asphyxia, stroke, CNS infections).
Intellectual disability and other neurologic manifestations (eg, strabismus, deafness) are not part of the syndrome but may be present depending on the cause.
Syndromes manifest before 2 years of age; later onset of similar symptoms suggests another neurologic disorder.
Do brain MRI and, if needed, testing for hereditary metabolic and neurologic disorders.
Treatment depends on the nature and degree of disability, but physical therapy and occupational therapy are typically used; some children benefit from bracing, botulinum toxin, benzodiazepines, other muscle relaxants, intrathecal baclofen, and/or surgery (eg, muscle-tendon release or transfer, rarely dorsal rhizotomy).
The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
United Cerebral Palsy: Provides information about therapy, early intervention programs, and support services for people who have cerebral palsy and other disabilities