The editors and current author would like to thank and acknowledge the significant contribution of the previous author of this chapter from the 2004 first edition, Dr. Mari Uehara. This current third edition chapter is a revision and update of the original author’s work.
Roy is a 13-month-old male who has been followed in the pediatric outpatient clinic. He was born at term by normal vaginal delivery without complications. His birth weight was 3300 grams. His mother did not have any problems during pregnancy. At 6 months of age, you noticed his head control was poor and at 9 months you were concerned that he was still not able to sit. Currently, he calls everyone "mama" and he follows one-step commands. He is able to drink from a cup. He can roll over from his stomach to his back, but he is not able to sit independently or stand. Vital signs are normal. His height and weight are both between the 25 to 50th percentiles and his head circumference is within 2 standard deviations of the mean. Some primitive reflexes such as the asymmetric tonic neck reflex (ATNR) persist and he has increased muscle tone, especially in his legs. His deep tendon reflexes are exaggerated.
Cerebral palsy (CP) is defined as a non-progressive disorder of movement and posture due to an abnormality of the developing brain, which can evolve in its clinical manifestations over months to years. It is a symptom complex or a descriptive term rather than a specific disease, making its case definition moderately variable, which is why prevalence estimates can vary greatly. Intellectual, sensory, and/or behavioral problems may also exist although the primary abnormality must be a motor deficit. The prevalence is estimated at about 3.2 per 1000 live births (1).
In many cases, an etiology may not always be evident and can often be multifactorial. The insult to the brain can occur prenatally (e.g., genetic mutations, congenital malformation, intrauterine infections, teratogens), perinatally (e.g., birth trauma, anoxia), or postnatally during infancy or toddler years (e.g., infections, accidental or non-accidental trauma, intracranial hemorrhage) (2,3,4).
The vast majority of CP cases are prenatal/perinatal (85% to 90%) related to abnormal development of the brain or damage that happened before or during birth. Cases are often associated with complications of significant prematurity (<32 weeks) and low birth weight (<1500 grams). The prevalence of CP has been reported as high as 10% for infants born before 28 weeks, which is 50-fold higher than children born at term (5,6). Prematurity is associated with intraventricular and periventricular hemorrhage, which have been shown to be prognostic factors for CP (4,7).
Although prematurity is a common antecedent of CP, most children who develop CP are born at term. More recently, research has identified about up to 31% of CP cases linked to genetic factors (3).
CP is often classified according to the predominant type of motor impairment: spastic, dyskinetic, ataxic, or mixed. Spastic CP is the most common type and affects 75% to 85% of individuals with CP (6,8). It is characterized by a generalized increase in muscle tone. CP can be further classified based on which limbs are involved, the suspected etiology, or functional capacities. Spastic diplegia associated with periventricular leukomalacia (PVL) is a common type of spastic CP in which, the lower extremities are more involved than the upper extremities. In hemiplegia, one side of the body is more involved (10). All the extremities and often trunk and oral motor function are also affected in spastic quadriplegia (10,11).
Choreoathetoid CP is a subtype of dyskinetic CP. Athetosis are slow writhing involuntary movements and involves distal limbs. Choreiform movements are asymmetric, uncoordinated, involuntary muscle contractions. These movements are more prominent under stress and their intensity may change (10,12). It may not be apparent until about 12 to 18 months of age when a toddler starts to show athetoid or dystonic posturing on voluntary movements. One known cause of this form of CP is bilirubin encephalopathy (kernicterus) associated with very high bilirubin levels during the neonatal period (6,10).
Ataxic CP is characterized by cerebellar dysfunction, with slow, jerky speech. This is the least common type with a frequency of 1% among individuals with CP (9,10). Mixed CP involves both symptoms of upper motor neuron and extrapyramidal symptoms (9,10). For example, a child who has spastic quadriplegia may also have choreoathetoid movements.
The diagnosis of CP is essentially clinical and depends on knowledge of normal development and its variation. While no factors or combination of factors is an absolute predictor of CP, certain situations warrant closer monitoring. It is also important to remember that the neurological picture may change as the child grows older and the CNS matures. It is often difficult to diagnose children with CP before 6 months of age, since most diagnoses occur at 12 to 24 months (13). Recent advances in neuroimaging and greater understanding of CP clinical history and physical signs have improved physicians’ ability in making an earlier diagnosis (13,14). Early diagnosis is particularly important in a preterm infant to optimize impact on the developing brain’s neuroplasticity and to improve access to care for these infants by providing early parental support (13,14). Preventative measures include magnesium sulfate given to infants less than 32 weeks gestation (13) and therapeutic hypothermia done within 6 hours after birth (15).
During infancy, feeding difficulty is an important sign. These children may continue to need gavage (tube) feedings. They may be difficult to feed or require an excessive amount of time for feeding. They may have poor weight gain or a poor rate of head growth due to a serious insult to the brain. Constipation is another common symptom among infants with CP, due to reduced mobility and dietary factors. They may be quiet and very easy, or irritable during infancy. These children may show a premature handedness preference prior to 18 months of age, which can be an early sign of hemiplegia.
There are several useful parameters for the assessment of neuromotor function.
A) Muscle function: Muscle tone and strength should be examined. By simple observation, you may be able to see poor head control, scissoring of the lower extremities, and/or extensor or flexor posturing of upper extremities.
B) Patterns of movement should be assessed. There are three patterns of movements that are as follows: 1) normal movements, 2) abnormal movements which are never seen in normally developing children (e.g., restricted movements in children with spastic diplegia or hemiplegia, or involuntary movements seen in children with athetoid CP), and 3) atypical movements which may be seen in normally developing children (e.g., bouncing along the floor while supine, or logrolling as methods of mobility).
C) Structure or alignment of the body. A child with spastic CP may have dislocation of the hip due to adductor and abductor muscle tone imbalance and resultant poor joint development. Children with spastic CP also have a tendency for plantar flexion of the feet. Scoliosis can be a problem for all children with CP (16).
D) Reflexes should be assessed. Physicians are generally very familiar with the deep tendon reflexes, which are often hyperactive in children with CP. Of equal significance are so-called developmental reflexes. Children with CP may have persistent primitive reflexes such as the Moro reflex and the asymmetric tonic neck reflex (ATNR). Children with CP may present with delayed emergence of righting reactions (natural tendency to position the body/head upright) and protective/equilibrium responses (e.g., parachute reflex) as signs of delayed maturation or CNS injury.
E) Gross motor skills are usually delayed but other developmental milestones should also be assessed to determine if delays are more global.
Many co-existing conditions are frequently seen in children with CP (8). These may include sensory impairments, seizures, cognitive impairment, orthopedic problems, impaired speech, and language, feeding issues, dental problems, skin breakdown, and respiratory infections. Because CP is the result of an insult to the developing brain, some of these problems may not be treatable or they may only partially respond to medical/surgical treatment. The treatment plans and programs must be individualized and modified over time as the child grows.
Children with CP have a high incidence of visual impairments (8,9). They may have refractive errors, visual fields defects, or cortical blindness. Strabismus is very common and may lead to the development of amblyopia. There is also an increased incidence of sensorineural and conductive hearing impairment. Hearing impairments can further delay speech and language development of children with CP.
25% to 45% of children with CP may also experience seizures (9). Seizures are most often seen among the children with spastic quadriplegia and hemiplegia. Generalized tonic-clonic and partial seizures are the common types. Approximately half of the children with CP have intellectual disability (17). Although children with more severe motor involvement tend to have intellectual disability more frequently, this is not always the case (17,18). Among children with milder motor symptoms with normal intelligence, there is a higher incidence of learning disabilities (17,18). Feeding difficulties (e.g., with sucking, chewing, and/or swallowing) are common among children with CP because of impairment of oral motor muscle function (19). This may also cause problems with speech articulation. Drooling and gastroesophageal reflux may also occur (20). Aspiration can cause pneumonia which is the leading cause of death in children with CP (21).
Because of the difficulties in motor control, assistance is needed to maintain good posture and alignment and good range of motion of the joints. Subluxation or dislocation of the hip are common in children with CP. The incidence is higher among children with spastic quadriplegia (22). Dislocated hips can develop arthritis and severe pain. Poor posture or positioning can result in scoliosis due to the unequal muscle tension. Spasticity and limited muscle use may lead to contractures. The interventions used to treat these conditions include physical therapy, orthopedic surgery, muscle tone management (e.g., botulinum toxin, systemic or intrathecal baclofen), and orthoses (e.g., ankle-foot orthosis, body shell) (8,9).
The life expectancy of children with CP depends on the type and the severity of the condition. Although the projected life span of children with CP is less than that of the general population due to complications of motor dysfunction, most affected children will survive well into adulthood if given appropriate medical attention (2).
The prognosis regarding ambulation is also dependent on the type and the severity of the motor dysfunction. Overall, children with hemiparesis will walk by 18 to 36 months. With or without assistive devices, 95% of children with diplegia and 75% of children with quadriplegia may achieve some degree of ambulation (10,12). Ambulation may be predicted based on the achievement of motor milestones. For example, there is a good prognosis for attaining some ambulation if a child can sit independently by 24 months (23).
Because of multisystem involvement and various psychosocial and medical needs, no one discipline can assess and manage all aspects of the child with CP alone. A multidisciplinary team model is best to address the manifestations of CP, along with its co-existing conditions, as well as the psychosocial needs of children with CP (12). The child's physician must be familiar with community resources such as early intervention programs and support groups. It is important for the primary care physician to communicate with the therapists, specialists, and school personnel. The physician needs to advocate for the necessary services for the child and his/her family. Primary care physicians should be aware of the different problems and needs that the children experience as they get older and help them transition from the toddler to school age to adulthood as smoothly as possible. The goal for the treatment program is to maximize function and optimize development to help them participate in as many activities as possible in multiple social settings.
Questions
1. Cerebral Palsy may have evolving clinical features in
a. type of brain abnormality
b. movement and posture
c. regression in developmental milestones over time
d. subtypes - choreoathetoid type, evolving to spastic type, and then developing quadriplegia
2. What is the most common type of cerebral palsy?
a. Spastic
b. Choreoathetoid
c. Ataxic
d. Mixed
e. All are equally common
3. Which of the following is NOT a worrisome sign that may indicate cerebral palsy?
a. Poor rate of head growth
b. Hand preference at 6 months of age
c. Scissoring of the legs
d. Obesity
e. High muscle tone
4. True/False: Because of the neuromotor dysfunction and associated conditions, children with cerebral palsy rarely live into adulthood.
5. True/False: Children with hemiplegia have a higher rate of ambulation than diplegia and quadriplegia
References
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2. Stavsky M, mor O, Sastrolia SA, et al. Cerebral Palsy-Trends in Epidemiology and Recent Development in Prenatal Mechanisms of Disease, Treatment, and Prevention. Front Pediatr. 2017 Feb 13;5:21. doi:10.3389/FPED.2017.00021
3. MacLennan AH, Thompson SC, Gecz J. Cerebral palsy: causes, pathways, and the role of genetic variants. Am J Obstet Gynecol. 2015;213(6):779-788. doi:10.1016/J.AJOG.2015.05.034
4. Soul JS, Ment LR. Chapter 22. Injury to the Developing Preterm Brain: Intraventricular Hemorrhage and White Matter Injury. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF, et al (eds). Pediatric Neurology: Principles and Practice, 6th Edition. 2017. Elsevier, Edinburgh. pp: 161-170.
5. Schieve LA, Tian LH, Rankin K, et al. Population impact of preterm birth and low birth weight on developmental disabilities in US children. Ann Epidemiol. 2016;26(4):267-274. doi:10.1016/J.ANNEPIDEM.2016.02.012
6. Korzeniewski SJ, Slaughter J, Lenski M, et al. The complex aetiology of cerebral palsy. Nat Rev Neurol. 2018;14(9):528-543. doi:10.1038/S41582-018-0043-6
7. Linsell L, Malouf R, Morris J, et al. Prognostic factors for cerebral palsy and motor impairment in children born very preterm or very low birthweight: a systematic review. Dev Med Child Neurol. 2016;58(6):554-569. doi:10.1111/DMCN.12972
8. Johnston MV. Chapter 616. Cerebral Palsy. In: Kliegman RM, St. Geme JW, Blum NJ, et al (eds). Nelson Textbook of Pediatrics, 21st edition. 2020, Elsevier, Philadelphia, PA. pp: 3168-3186.
9. Oskui M, Michael SI, Swaiman KF. Chapter 97. Cerebral Palsy. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF, et al (eds). Pediatric Neurology: Principles and Practice, 6th Edition. 2017. Elsevier, Edinburgh. pp: 734-740.
10. Graham HK, Rosenbaum P, Paneth N, et al. Cerebral palsy. Nat Rev Dis Primers. 2016;2. doi:10.1038/NRDP.2015.82
11. Michael-Asalu A, Taylor G, Campbell H, Lelea LL, Kirby RS. Cerebral Palsy: Diagnosis, Epidemiology, Genetics, and Clinical Update. Adv Pediatr. 2019;66:189-208. doi:10.1016/J.YAPD.2019.04.002
12. Patel DR, Neelakantan M, Pandher K, Merrick J. Cerebral palsy in children: a clinical overview. Transl Pediatr. 2020;9(Suppl 1):S125. doi:10.21037/TP.2020.01.01
13. Novak I, Morgan C, Adde L, et al. Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy: Advances in Diagnosis and Treatment. JAMA Pediatr. 2017;171(9):897-907. doi:10.1001/JAMAPEDIATRICS.2017.1689
14. Spittle AJ, Morgan C, Olsen JE, Novak I, Cheong JLY. Early Diagnosis and Treatment of Cerebral Palsy in Children with a History of Preterm Birth. Clin Perinatol. 2018;45(3):409-420. doi:10.1016/J.CLP.2018.05.011
15. Shepherd E, Salam RA, Middleton P, et al. Neonatal interventions for preventing cerebral palsy: an overview of Cochrane Systematic Reviews. Cochrane Database Syst Rev. 2018;6(6). doi:10.1002/14651858.CD012409.PUB2
16. Hägglund G, Pettersson K, Czuba T, Persson-Bunke M, Rodby-Bousquet E. Incidence of scoliosis in cerebral palsy. Acta Orthop. 2018;89(4):443-447. doi:10.1080/17453674.2018.1450091
17. Reid SM, Meehan EM, Arnup SJ, Reddihough DS. Intellectual disability in cerebral palsy: a population-based retrospective study. Dev Med Child Neurol. 2018;60(7):687-694. doi:10.1111/DMCN.13773
18. Cummins D, Kerr C, McConnell K, Perra O. Risk factors for intellectual disability in children with spastic cerebral palsy. Arch Dis Child. 2021;106(10):975-980. doi:10.1136/ARCHDISCHILD-2020-320441
19. Andrew MJ, Parr JR, Sullivan PB. Feeding difficulties in children with cerebral palsy. Arch Dis Child Educ Pract Ed. 2012;97(6):222-229. doi:10.1136/ARCHDISCHILD-2011-300914
20. Fernando T, Goldman RD. Management of gastroesophageal reflux disease in pediatric patients with cerebral palsy. Can Fam Physician. 2019;65(11):796. doi:10.1007/978-3-319-50592-3?page=2#toc
21. Marpole R, Blackmore AM, Gibson N, Cooper MS, Langdon K, Wilson AC. Evaluation and Management of Respiratory Illness in Children With Cerebral Palsy. Front Pediatr. 2020;8. doi:10.3389/FPED.2020.00333
22. Miller SD, Juricic M, Hesketh K, et al. Prevention of hip displacement in children with cerebral palsy: a systematic review. Dev Med Child Neurol. 2017;59(11):1130-1138. doi:10.1111/DMCN.13480
23. Keeratisiroj O, Thawinchai N, Siritaratiwat W, Buntragulpoontawee M, Pratoomsoot C. Prognostic predictors for ambulation in children with cerebral palsy: a systematic review and meta-analysis of observational studies. Disabil Rehabil. 2018;40(2):135-143. doi:10.1080/09638288.2016.1250119
Answers to questions
1.b, 2.a, 3.d, 4. False, 5. True