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Cerebral Palsy Prognosis Based on the Physical and Neurologic Examination

  • S. Charles BeanEmail author
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Abstract

Cerebral palsy (CP) is a static disorder of movement and posture due to injury, genetic, and/or developmental abnormality of the maturing fetal, neonatal, or early infant central nervous system. The early neurodevelopmental exam, although helpful, cannot reliably prognosticate the severity and type of CP. The diagnosis needs to be secure. With the advent of neuroimaging, metabolic studies and explosion of genomic studies, the physician must be more vigilant to not confuse this slowly changing and presumably static condition for masqueraders of CP, particularly progressive, degenerative, treatable, or specific genetic disorders.

The neurologist and pediatrician have an important role to help families understand the uncertainty and complexity of a diagnosis of CP, which should never be a final diagnosis without a modifier of what risk factors or specific causative etiology may exist. CP is a starting point, not an end in itself.

Discussion with the family of the potential for motor dysfunction and neurologic injury should be addressed as early as possible, even before a clear diagnosis of CP is established. Developmental therapies should be initiated early. The physician should clearly emphasize that predicting severity is often impossible from the infant examination. Hopeful, positive, and guarded expectations should be provided. Additionally, serial follow-up for monitoring the progression of symptoms and preparing the family for the comorbidities that may accompany the CP motor disability is important.

It is essential for the neurologist, pediatrician, and developmental team to be vigilant for uncovering the myriad of CP masquerading conditions. They should also provide ongoing support and therapeutic guidance while respecting the integrity of the family facing the challenges of CP.

Keywords

Cerebral palsy Cerebral palsy masqueraders Cerebral palsy comorbidities Cerebral palsy neurologic examination Cerebral palsy diagnosis Cerebral palsy prognosis 

Introduction

The diagnosis or suspicion of cerebral palsy (CP) has a cataclysmic effect on family dynamics and escalates family stress. Dashing the hopes of a “normal” parenthood and the expectations of a “normal” child’s future promptly leads to questions of prognosis. What is the predicted course of the condition? What outcomes are to be expected? What therapy choices will help? These are difficult issues for the physician, as children with CP are not a homogeneous population. The initial presentation is often in the first 6–24 months of life, when the child presents either because of unexpected motor delay or because prenatal and/or neonatal risk factors have alerted the family to follow a child closely because of potential higher risk for the development of CP and neurologic abnormality. The diagnosis is usually made between 12 and 24 months of age, although it can often be later.

The physician is presenting the diagnosis and prognosis before the infant’s nervous system has fully developed. It is understandable that families remember prognostic discussion about their child’s functioning: 46% reported their child exceeded expectations and 60% reported exceeding expectation when prognosis was based on medical imaging (Guttmann et al. 2018). Earlier diagnosis of neurologic injury generally correlates with the most severe injury, with the child having greater functional limitations (Guttmann et al. 2018). For the child diagnosed later, there is more nuance, often with less severe neurologic abnormality. Families often feel communication is “fragmented, chaotic, and contradictory”, especially in the acute illness setting, such as the neonatal intensive care unit (NICU), with neurologic diagnosis such as neonatal encephalopathy, hypoxic ischemic encephalopathy, ischemic events, or intraventricular hemorrhage (Lemmon et al. 2016). Parents feel there can be too long a delay in making the diagnosis. On the other hand, parents often perceive a positive influence of receiving a diagnosis and then starting therapeutic interventions. Even in the more subacute and chronic situations with developmental delays or asymmetric motor function, the same challenges exist to properly inform families about the nonhomogeneous nature of the cerebral palsy as a congenital motor dysfunction and not a single definitive diagnosis in itself. Static and nonprogressive, early findings do not clarify severity or associated comorbidities. The neurodevelopmental examination alone usually does not clarify etiology, except if dysmorphic features lead to a specific genetic diagnosis such as Trisomy 21 or Miller-Dieker Syndrome.

Making the Diagnosis

In 2006, the International Consensus Panel defined cerebral palsy as “a group of permanent disorders of the development of movement and posture causing activity limitations that are attributed to non-progressive disturbances that occurred in the developing infant or fetal brain. The motor disorders are often accompanied by the disturbances of sensation, perception, cognition, communication and behavior, by epilepsy, and by secondary musculoskeletal problems” (Rosenbaum et al. 2007, p. 11.) Although nonprogressive, CP is changeable, as its symptoms are often nonspecific initially, and then unfold into clearly recognized patterns as the child’s cortical and subcortical control begins to influence brainstem and spinal reflex patterns. The earliest pathological findings based on neonatal and postural reflexes and neurologic examination do not consistently predict the type of motor dysfunction or the severity of motor dysfunction in the older child. Therefore, there is a continued tension between the difficulty of making an exact diagnosis and the need to inform the family so appropriate therapeutic measures can be initiated. Most children with CP have a well-established stable pattern of motor dysfunction by 7 or 8 years of age, but some conditions may unfold at a later time. Between 2 and 4 years of age, the basic pattern of motor dysfunction is often clear, but particularly hyperkinetic/dystonic symptoms often show a delayed presentation.

Early Diagnostic Uncertainty Complicates Early Prognosis

Severity of CP judged by the Gross Motor Functional Classification System (GMFCS) often needs to be adjusted after 2 years of age, as the nervous system matures and functional abnormalities are more clearly observed (Palisano et al. 2008; Hanna et al. 2009). Often, the earlier functional category noted is more severe. Although the GMFCS category system with five levels of severity is excellent in predicting motor development, it does not give a picture of other important aspects of development like cognition. The GMFCS can be difficult for families to understand. I have found parents understand a three-tiered description more easily.
  • Mild: Abnormal movements, posture, and tone but can function in all tasks without significant aides (corresponds to GMFCS I)

  • Moderate: Abnormal movement, posture, and tone and may need aides to complete daily functional tasks (corresponds to GMFCS II–III)

  • Severe: Abnormal movements posture and tone and cannot complete daily tasks even with aides (corresponds to GMFCS IV–V)

On the other hand, children with a clear diagnosis of cerebral palsy can improve and clear their motor symptoms and be free of motor disability at school age (Nelson and Ellenberg 1982; Korzeniewski et al. 2016). However, these children are at higher risk to develop disorders of cognition, speech, and epilepsy. Many more infants show transient neurologic signs and developmental variability but clear without progression (Mink 2013). Premature infants with self-limited transient dystonia of the lower limbs can show improved tone under observation and develop normally. This is difficult to predict but should be considered on giving prognosis in young infants. There are other full-term infants, under 12 months, that can develop a transient dystonia of upper or lower limbs that clears (Willemse 1986; Calado et al. 2011; Angelini et al. 1988).

There is still much to learn about the reparative processes at different developmental stages in the fetus, newborn, and older child, which ameliorates the neurologic dysfunction from acquired illness like trauma or hypoxia as well as dysmorphic and genetic etiologies of brain development like schizencephaly and lissencephaly. Brain plasticity and reparative success is complex and not significantly elucidated. There are likely some similar, universal mechanisms, and other different unique mechanisms for specific etiologies. Plasticity, or successful brain function repair, for the individuals with CP is difficult to predict (Giza et al. 2009; Johnston et al. 2009).

Developing a Prognosis

When reviewing literature about prognosis, certain important questions need to be considered (Hansebout et al. 2009). Was the specific literature review a homogeneous and representative sample similar to your patient?
  1. 1.

    Were the literature subjects at a similar stage in the disease (timing of insult) or developmental process?

     
  2. 2.

    Were adjustments made for significant prognostic factors and clinically relevant subgroups?

     
  3. 3.

    Was follow-up sufficiently long and complete?

     

The American Academy of Neurology’s Practice Parameter: Diagnostic assessment of the child with cerebral palsy (Ashwal et al. 2004) does a wonderful job in reviewing the literature. Nevertheless, the prognostication to families is faced with nonhomogeneous etiologies and risk factors, different patterns of unfolding gross motor function, and different timing of the onset of dysfunction. These limitations increase the difficulty of predicting what is most important for the quality of life of persons with CP and their families. Cognitive function, communication, and behavior disturbances are the most significant issues affecting quality of life in older children, teenagers, and adults, and their families. From the families’ point of view, motor challenges are important, but it is only the most severe motor dysfunction that significantly impacts quality of life, especially nonambulatory dystonic-hyperkinetic CP and nonambulatory spastic quadriplegic CP. This is not to deny the lifelong challenges with milder motor dysfunction. Teenagers more than younger children and their parents find even mild motoric disability very impactful on their quality of life.

It is remarkably difficult to answer the questions that make ultimate prognosis more accurate for an individual‘s specific etiology and risk factors. This is especially true under 2 years of age. The exception to this is in the most severely motorically affected children. Even that is not certain. I have cared for a nonambulatory high school senior with a severe spastic triplegia with dystonia and poorly understandable speech due to oral buccal spastic dyspraxia who was one of the top academic performers of his class and was sought after as a preferred science project partner. He is presently in college. The American Academy of Neurology’s Practice Parameter (Ashwal et al. 2004) called for future research to enhance strategies to uncover cost-effective diagnostic evaluations for discovering CP etiology, quality of life issues related to education, social support, and to discover the mechanisms related to metabolic and genetic conditions.

Although CP is considered static, its slowly unfolding nature does not address what mechanisms of injury and repair are occurring from the initial insult till the static neurologic picture is appreciated. It also does not address potential confounding issues of secondary injury like seizures, and the deterioration due to orthopedic issues and pain. RD Lund in Development and Plasticity of the Brain (Lund 1978) correctly notes “that neurons and specific patterns of their connections are not the product of a single event but are the result of continued interaction throughout all stages of development between the neuron and its environment. Even as we mature the neuron is still subject to the vicissitudes of its surroundings.” This applies in my opinion to the microscopic and neurochemical environment as well as the macroscopic environment in which the individual person with CP and his family reside.

With these issues unresolved, it is understandable that often physicians are hesitant to declare the diagnosis too early. Families are concerned often by what they perceive as a late diagnosis which could delay beginning active therapy (Guttmann et al. 2018).

This problem can be alleviated by careful history and serial neurodevelopmental examinations. Attention to details of maternal gestation, labor and delivery, and the neonatal period are important. A good family history is also essential. One does not have to wait to provide early intervention with family-based physical therapy (PT) and or occupational therapy (OT) until a formal diagnosis of CP is made. When early tone and abnormal postural reflexes raise suspicion of potential motor dysfunction, prompt beginning of early intervention strategies is essential. Discussion with the family of the potential for motor dysfunction and neurologic injury should be addressed but with clear emphasis on the difficulty in predicting severity which is often impossible from the infant examination. The physician should provide hopeful positive and guarded expectation. Additionally, serial follow-up consultations for observing specific associated conditions and preparing the family for the comorbidities that may accompany the CP motor disability is important. It is essential for the physician and developmental team to be vigilant for the myriad of CP masquerading conditions.

Prognosis: Comordidities and Life Expectancy

Quality of life and functional mastery of life’s challenges are not just determined by motor function. The comorbidities associated with CP, particularly intellectual deficits, poor communications skills, and behavior disorders are extremely important (Fig. 1). Epilepsy can affect 20–40% of individuals with CP and presents significant challenges. These comorbidities particularly are overrepresented in individuals with the most severe motor limitations.
Fig. 1

Co-morbidities Associated with Cerebral Palsy Diagnosis. This figure represents the percent of patients in a population of children with a diagnosis of cerebral palsy who will have these most common co-morbidities. Numbers are abstracted from the reported literature (Hanna et al. 2009; Ashwal et al. 2004)

Most children with CP live to adulthood. In a Swedish study, 60% of the most severely motorically limited (GMFCS V) individuals were alive at 20 years (Westbom et al. 2011).

A California study (Strauss et al. 1998) noted that children with the most severe limitations, (who were immobile, could not lift their heads when prone and were tube fed) had a limited life expectancy. They often died by 5 years of age. Only 20% of these severely affected individuals with multiple handicaps survived to 10.9 years in 1983. Survival improved to 17.1 years in 2010 (Brooks et al. 2014) strongly suggesting that the quality of supportive care is important. E. Blair (Blair et al. 2001) noted mortality above 1% per year for the first 5 years and then dropping to 0.35% over the next 20 years. The heterogeneity of these populations has to be considered when applied to an individual child.

When families ask “How long will my child live?”, they are not wanting to know mean or median survival. They want to know how to plan for the long term for their child. Of course no one has a crystal ball, but in most children, except the most severely involved, a normal life expectancy is predicted. During the last 40 years, I have followed children into adulthood. I observed that if the most impaired individuals survive to age 6, families need to be prepared for them to live to at least 30 years of age. Of course many die before this, but it is important for family planning to be aware of the most likely possibilities.

The Challenge of Masqueraders

Not only are the unfolding, changing signs, severity, and type of CP difficult to prognosticate, the diagnosis needs to be secure and not confused for masqueraders of CP. With the advent of neuroimaging (especially MRI), metabolic testing, and the explosion of genomic studies (microarray and whole genome), the physician needs to be more vigilant to diagnose progressive conditions. CP should not progressively worsen but subacute slowly evolving conditions that have specific neurosurgical treatment could be missed such as subdural hematomas or slowly progressive hydrocephalus. Consideration for spinal cord disorders should be thought of with paraplegias.

An increasing number of specific genetic and metabolic diseases of the central nervous system can be diagnosed. Some of these diagnoses have specific treatments or unfavorable prognoses because they are degenerative. Without the appropriate diagnosis, it is impossible to have the opportunity for genetic counselling, providing appropriate prognosis, specific treatments to improve or ameliorate the condition, appropriate medication adjustment, and more appropriate informed disease monitoring (Lee et al. 2014). Many neurogenetic disorders can be subtle in their presentation. Leukodystrophies such as metachromatic leukodystropy, Pelizaeus-Merzbacher disease, and Retts syndrome can be challenging to separate from the slowly unfolding and changing neurologic symptoms of CP which are due to static, nondegenerative, time limited insults like intraventricular hemorrhage, periventricular leukomalacia, focal ischemic stroke, watershed ischemia of hypoxia and ischemia, and deep basal ganglionic injury from near total asphyxia. The paper by R. W. Lee et al. is a particularly good review of these masqueraders and should be referred to for further in depth reading (Lee et al. 2014).

The clinical RED FLAGS, which should alert one to consider these CP-like conditions and explore further evaluation, are as follows:
  1. 1.

    A history not consistent with pre- or perinatal and neonatal risks.

     
  2. 2.

    Normal MRI or MRI only showing globus pallidus abnormalities or disease specific abnormality.

     
  3. 3.

    Consanguinity or a suspect inheritance pattern.

     
  4. 4.

    Neurologic regression or clear deterioration and loss of milestones.

     
  5. 5.

    Hypotonia as the prominent symptom.

     
  6. 6.

    Rigidity rather than spasticity as a prominent symptom.

     
  7. 7.

    Paraplegia alone.

     
  8. 8.

    Ataxia as the predominant symptom.

     

Even noncentral nervous system diseases can masquerade as CP. I have seen a 5-year-old child diagnosed with CP, when her prominent muscle bulk, fluctuating increased tone, and stiffness decreasing after “warming up exercises” was found to be due to myotonia congenita. This reinforces the danger of CP being a final diagnosis and not keeping an open mind. This child has been significantly helped with carbamazepine.

Each of the CP syndromes (spastic hemiplegia, spastic diplegia, spastic quadriplegia, Hyperkinetic-dystonic, ataxic, and hypotonic) has masqueraders. The high percentage of specific and progressive disorders presenting and persisting as hypotonic and ataxic CP makes me very cautious to even include them in the CP rubric. A search for specific etiologies needs to be particularly complete with these syndrome complexes before attempting to give prognostic guidance to families.

The diagnostic process can be difficult. The kernicterus story is a good example. Hemolytic disease of the newborn from RH incompatibility can lead to a newborn picture of an acute bilirubin encephalopathy with stupor, hypotonia, poor suck, and seizures in the first days. By mid-week, hypertonia, opisthotonus, and retrocollis occurs, only to be followed in the next 12 months by apparent improvement with diminishing tone, abnormal asymmetric tonic neck reflex, and brisk DTRs. There is delay in motor milestones and then development of abnormal up gaze, and sometimes years later variable chorea and athetoid movements becomes apparent. There are partial and milder presentations with normal appearing children with high tone deafness and mild very late chorea. Kernicterus is presumably a static insult in the early newborn period. If the newborn and early childhood history was unavailable, this changing, slowly unfolding disorder could be misconstrued as a degenerative hyperkinetic disorder.

Early Neurologic Examination Predicting Specific CP Syndromes

I like to separate CP types into syndromes of motor dysfunction: spastic hemiparesis, spastic diplegia, spastic quadriplegia, hyperkinetic-dystonic, ataxic, and hypotonic CP. These syndromes correlate to the neuropathological localization of dysfunction. I recognize that there are frequently mixed and overlapping syndromes, but when fully established, the prominent syndrome does lend therapeutic and prognostic guidance.

The newborn and early infancy neurodevelopmental examination is less specific for uncovering the specific etiology and neuropathological localization of a specific CP syndrome. The general examination can be more revealing of CP etiology. Attention to growth, height, weight, and head circumference is important. Neurocutaneous stigmata and facial dysmorphism often predict central nervous system abnormality. Hypotelorism and hypertelorism can suggest midline defects. Inspection of the skull noting cranial sutures and fontanels, asymmetry, macrocephaly, microcephaly, and dolichocephaly is important. Ocular abnormalities, such as colobomas and cataracts, as well as organomegaly, limb deformities and asymmetries, and midline spine defects should be sought. These help to delineate the specific CP etiology and help clarify prognostication.

The neonatal neurodevelopmental examination relies on tone, neonatal/infant and postural reflexes, alertness, and attentiveness. The dysfunction causing abnormalities in these parameters is most indicative of acute central nervous system stress. Except for visual tracking, visual following, optokinetic nystagmus, and possibly the ocular spinning response (initiating ipsilateral deviation of the eyes and reverse nystagmus from spin direction), the neonatal tests uncover function below the diencephalon in the brainstem and spinal cord. The Moro, suck and root, nonobligatory tonic neck, righting response, traction and head lag, foot placement and step, newborn reflex walking, vertical and horizontal suspension, parachute, Landau, supported standing with feet on a flat surface, “flying on air sign” (placing feet on flat surface causing legs to flex and withdraw), and visual and tactile habituation, all give the examiner a sense of the homeostatic function and organization of the infant with relative insensitivity of cortical function. Only visual function and social interactive awareness give more cortical clues to development. Excessive persistence or late development of reflexes and postures signal risks of CP.

Delayed motor milestones corrected for gestational age such as not sitting by 8 months, not walking by 18 months, and asymmetry of hand function before 18 months are useful early indicators. Serial examination of appropriate appearance and disappearance of neurodevelopmental reflexes and milestones is very helpful in alerting to the possibility of CP. I have found that using many of the techniques from the Brazelton Neonatal Assessment Scale (Brazelton 1978; Als et al. 1977), especially visual and social interaction, are very helpful in alerting parents to neurologic status of their infant in ways that help them understand their infant’s behaviors and reactions.

The reader is encouraged to review the work of Bronson Crothers (1951a, b) and Richman Paine (1962), Amiel-Tison (1978; Amiel-Tison and Stewart 1989), Barry Brazelton (1978), and Arnold Capute (Allen and Capute 1989), and others who have added significant insight into this evaluation which requires careful observation and clinical skill; checklists usually miss the essence. In the clinical interaction performed with kindness and sensitivity, a bond is made with parents that sets the stage for supportive care of the child in a family context. The serial examination sets the stage for a helpful prognostication and therapeutic alliance. Abnormality on the sequential newborn examination can be a significant risk factor for the development of CP.

Many who will develop CP will display varying periods that I call “pseudo-normalcy” before unfolding persistent signs of CP. They seem to reestablish more normal neonatal reflexes and improved alertness, but sometimes show extremely subtle decrease in normal adventitious movements, often with more stereotypic character without the normal alternating ballet like smooth alternating movements. This more normal period can be falsely reassuring as the infant may proceed to show motor abnormalities when older. This emphasizes the need for serial examination of the child while providing family-centered support.

Only the most severely affected infants do not show improvement of their neonatal and early infancy symptoms. They remain hypotonic, apathetic with blunted visual responses, have a paucity of stiff, “cramped” movement, disordered suck and swallow, depressed reflexes, or abnormally persistent reflexes like the Moro, automatic stepping, neck hypertonia, and asymmetrical obligatory tonic neck responses, and abnormal parachute. Deep tendon reflexes are usually increased. These infants progress to severe dystonic and/or severe spastic quadriplegia without a period of pseudo-normalcy or a very short period in which they appear to be improving.

Remarkably, despite a grim presentation, some neonates with newborn encephalopathy completely resolve. A case example is an infant born full term with a diagnosis of hypoxic–ischemic encephalopathy with Apgars of 0/0/0/1. He displayed profound hypotonia, suppressed ocular-vestibular reflexes, poor suck, apathy, poor visual responses, and fragmentary multifocal seizures for the first few days of life. He gradually improved over the next weeks, appearing vigorous on discharge from the NICU. He was a perfectly normal child at 4 years of age. This is a case emphasizing the prognostic difficulty from the early life examination. Crothers and Paine (1959, 1988) appropriately cautioned “over optimism is as dangerous as unjustified pessimism.”

Some infants may have no hint of neonatal encephalopathy and unexpectedly begin to show delayed milestones and motor abnormality. The severity outcome is difficult to predict in these situations, especially when there seems to be early resolution of abnormal signs. The most severely affected infants with persistently severe findings of apathy and hypotonia, transitioning into spasticity, rigidity, and dystonia, predictably do not do well.

The prognosis for walking, which is a frequent early question from parents, will likely be significantly delayed if:
  1. 1.

    After 6 months (corrected age), the Moro reflex persists, there is strong obligatory and asymmetrical tonic neck reflex, and a strong obligatory neck righting response.

     
  2. 2.

    After 12 months, there is absence of visual and tactile foot placement reaction (not the neonatal stereotypic foot placement), and an absent or asymmetrical parachute response.

     
  3. 3.

    At 12 months, a strong stereotypic extensor trunk and leg thrusting is noted in the vertical position (Bleck 1979; Aicardi and Bax 1992).

     

Prediction of the motor progress and walking does not always predict cognitive status and comorbidities.

Specific Syndromes

Spastic Hemiplegia – These children generally have hemispheric injury often by ischemia in the middle cerebral artery distribution or injury to the deep periventricular white mater. The former are more often seen in full-term infants. Most often the children are normal at birth but the family notes the infant has subtle disinclination to use one hand, usually noted by 4–9 months of age (normal handedness 18 months). Examination reveals stiffness and clasp knife spasticity and decreased reaching or grasping with the distal hand, which is stiffly fisted with the thumb flexed into the palm (cortical thumb). The arm has a flexed, abducted posture. Pincer grasp does not develop. The ipsilateral leg has more extensor tone and less movement. This is more obvious with attempts to crawl, cruise, stand, and walk. Clonus, brisk deep tendon reflexes, and toe walking is seen on the affected side. There is rarely significant facial asymmetry. Remarkably 98% of these children walk and some before 18 months, albeit with a hemiplegic gait with a flexed upper limb and circumducted extended spastic lower limb.

If an ipsilateral visual field defect can be uncovered, the lesion is usually large, involving the frontal, parietal, and occipital lobes. Bringing a colored tape measure or small red ball dangling on a string from behind the child’s head slowly into his visual field, one can discern unilateral visual inattention as early as 6 months. Children with a visual field defect have more motor disability, more cognitive dysfunction and higher percentage of symptomatic epilepsy. Children with deep white matter lesions often function much better than those with cortical insults in regard to cognition and epilepsy. Seizures are frequent in this group. Older children demonstrate parietal sensory neglect, astereognosis, and agraphesthesia. Parietal and occipital dysfunction can impact cognition, education, and employment. Dyskinesia may also develop, particularly in older children and teenagers. Growth of the affected limbs is blunted in length and girth. Comparing front view of thumb sizes picks up early growth disparity. Contractures are common.

Spastic Diplegia – These children are predominantly premature and have periventricular leukomalacia, with or without germinal matrix hemorrhages. In more severe cases, they may have unilateral venous infarction of the central cerebral vein. Ultrasound shows cystic cavitation in the periventricular area, but this may clear even in the neonatal period. Bilateral and often asymmetrical ventricular irregular curvilinear enlargement is seen on imaging. The deep white matter tracts curve around the lateral edge of the ventricle, with leg areas closest to the ventricle surface, followed by trunk, arms, and face fibers. The optic radiations in the posterior lateral ventricle can be involved. These areas are the arterial end zones in the premature brain vasculature and sustain the most injury from ischemia (Volpe 2018).

Children with diplegia have bilateral and frequently asymmetrical spasticity of the lower legs, with hand and arm spastic involvement being relatively less severe. The premature infants may show early low tone, feeding difficulty, and blunted alertness for a few months, but often have a benign appearing course, “pseudo-normalcy,” until the higher cortical input exerts its controlling effects on spinal and brainstem reflexes. As with other CP types, prolongation of the disappearance of the Moro reflex, automatic stepping, involuntary plantar and palmar grasp, a strong obligatory asymmetric tonic neck reflex and neck righting reflex, abnormal Landau, abnormal parachute, and subtle more “cramped” less alternating and smooth leg kicking can be seen. These abnormalities are often absent or not as prominent as in severe spastic quadriplegic or dystonic-hyperkinetic CP.

At 5–6 months, movement from horizontal to vertical suspension causes bilateral tonic stiff, spastic leg scissoring, and pointed toes. The legs have prominent hyperreflexia and clonus. There is usually much milder spasticity of the upper limbs, with hyperreflexia, abnormal posturing, and poor hand grasp. Sitting position is unique with a stiff lower lumbar sacral spine and a more flexible forward bending upper spine. Paraspinal muscle palpation easily demonstrates the tight lumbar sacral area and softer cervical thoracic region. This correlates with the white matter tracts to the lumbar sacral area layering in close proximity to the leg fibers, as there is more extensively injured white matter at the ventricular external angle by periventricular leukomalacia. This pathologic white matter injury can unfold more slowly in milder cases, with symptoms noted first between 12 and 18 months of age. When attempting to walk, these children are on tip toes with flexed knees and hips, and with a positive Babinski sign (more difficult to demonstrate under 1 year of age) and hyperreflexia. Ambulation without a wheelchair is successful in 98% of these children, Epilepsy is less frequent and cognitive and learning challenges are generally less severe.

Spastic Quadriplegia – These children have severe bilateral cortical and brainstem pathology with variable involvement of the basal ganglion. Many different pre- and perinatal and occasionally postnatal encephaloclastic insults can cause this pattern of CP. Many genetic and dysmorphic etiologies, and CP masqueraders also are associated with spastic quadriplegia. Muticystic encephalomalacia, bilateral watershed infarction, selective neuronal necrosis, hydroencephalopathy, as well as major migrational abnormalities are frequent with this form of CP.

These infants initially have profound hypotonia. There are delayed milestones and decreased spontaneous movement without the normal infant’s stretching and dance like alternating smooth spontaneous movement. Oral motor control is abnormal with feeding difficulties and abnormal suck and swallow. Oculocephalic reflexes initially are abnormal. Tracking and visual following are poor and often there is a bland facial appearance with blunted visual reactivity. Flaccid tone with brisk or normal deep tendon reflexes eventually evolves into increased tone and tightness, with subsequent development of severe spasticity in all limbs. There is a persistent Moro response, abnormal obligatory asymmetrical tonic neck and righting responses, flying on air sign (withdrawal of legs when attempting to place feet on surface), and asymmetrical or delayed parachute reaction. Visual and interactive responsiveness is often blunted.

The prognosis for ambulation without significant aides is poor; with only 24% (GMFCS III–V) walking. Cognition is very frequently affected. Seizures are frequent. There remains a gradation of injury and severity of symptoms with milder cases showing less severe early signs and more rapid improvement.

Dystonic-Hyperkinetic CP – The development of hyperkinetic-dystonic symptoms (dystonia, chorea, athetosis) are often superimposed on the spasticity of hemiplegia and spastic quadriplegia even years after the insult. At times, the successful amelioration of spasticity by dorsal rhizotomy or with the intrathecal baclofen pump in teenagers brings out the hyperkinetic- dystonic movements that were not previously appreciated. Likely the severe abnormality of pyramidal tract spasticity hides the extrapyramidal symptoms. Although there are mild cases not appearing until after 10 years of age even after normal early milestones, most hyperkinetic and dystonic symptoms develop after 1–3 years of age and often progress to much more severity over the next few years. These symptoms often lead to torsional movement disorders and worsening motor severity scores.

The early infant examination can show automatic and stereotypic mouth opening and significant opisthotonos, prominent asymmetrical tonic neck reflexes, and retrocollis. Feeding dysfunction is prominent. Only 25% develop some level of ambulation. The difficulty with dyspraxic speech is that it often leads to an underestimation of the intelligence of the child, although they do have variable cognitive issues.

A case example is a 16-year-old nonambulatory woman with severe painful unremitting dystonia and chorea movements and unintelligible speech, who was frustrated with the lack of therapeutic gains. She researched deep brain stimulation and presented the supportive articles on her computer to the medical team.

Abnormalities seen in the thalamus and posterior putamina in the basal ganglion are the hallmark of this type of CP. Often there are coexisting cortical and brainstem abnormalities.

Hypotonic/Ataxic CP – This group is the most worrisome to assign a CP label, as the masqueraders are legion that can present with this clinical picture. There are a great number of global cerebral abnormalities in addition to cerebellar and brainstem circuit dysfunctions which impair coordination of movement. The pathology and etiology are the most heterogeneous and this CP group has a high percentage of genetic disorders and fewer acquired encephalocalstic disorders. For example, cerebellar hemorrhages rarely dominate the clinical picture in premature infants, and symptomatically are overshadowed by pyramidal dysfunction, so those infants are usually classified as spastic CP although there is a significant underlying ataxic component.

Early and prolonged periods of hypotonia and failure to meet milestones eventually develop into recognizable ataxia, dysmetria, tremor, and titubation first noted at 1 year or later when there are attempts at sitting, which is often difficult even with support. Although 23% of this group eventually walks, it is often very late and frequently associated with cognitive abnormalities, seizures, and hearing and speech disorders. Giving a prognosis here is fraught with danger unless a specific etiology can be uncovered with imaging and genetic studies. Typical rare disorders that often present initially as hypotonic CP include Jouberts, mitochondrial disorders, Dandy-Walker malformation, peroxisome disorders, Vanishing white mater disease, PKU, rhombencephalosynapis, 4-H syndrome, etc. The more persistent the hypotonia or ataxia, the more vigilant one must be in making a diagnosis before a prognosis is entertained (Lee et al. 2014). The purely hypotonic cases also have significant cortical dysfunction but particular attention to non-CNS etiologies such as muscle and anterior cell disorders should be considered. I do not think these children are served by a CP diagnosis.

Conclusion

The diagnosis of CP is not an ending point. CP is a beginning point requiring a search for risk associations and specific etiologies. Making the diagnosis of CP in the young infant is usually very difficult due to the unpredictable effects of brain maturation. It is also very important to always consider the many masqueraders of CP especially when the initial workup does not lead to a definitive diagnosis. Prognostication is more secure with a specific diagnosis.

Sequential neurodevelopmental evaluations provide the framework to observe the unfolding and changing central nervous system from the fetus to older child. They provide opportunity to sensitively and transparently discuss with families the limitations of long-term prognosis. Even when the diagnosis is not secure, it is helpful to advise early habilitative therapy. The ability to make a clear diagnosis with some prognostication of severity and function often requires the child to be 3–5 years old.

The idea that CP is static, a done deal, with little that can be done is changing. Sir William Osler in his 1889 monograph, The Cerebral Palsies of Children, recognized that “with patient training and kind care many of these poor victims … reach a fair measure of intelligence and self –reliance” (Sir William Osler, 1987 edition) (Osler (1889) 1991). Much has been accomplished since then. The success of brain cooling to ameliorate newborn hypoxic ischemic encephalopathy is notable. Research into the reparative process of early brain injury, such as described in the Phillip R Dodge Young Investigator Award lecture by Christopher Elitt at the 2018 Child Neurology meeting exploring the mechanisms of premature white matter injury repair, offers hope to the future therapy that can blunt the effects of early brain injury. Prognosis offered to families should be offered with some optimism.

Cross-References

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Emeritus Professor Nemours AI duPont HospitalWilmingtonUSA

Section editors and affiliations

  • Steven J. Bachrach
    • 1
    • 2
  1. 1.Department of Pediatrics (Emeritus)Nemours/Alfred I. duPont Hospital for ChildrenWilmingtonUSA
  2. 2.Sidney Kimmel Medical College of Thomas Jefferson UniversityPhiladelphiaUSA

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