The Physically Challenged Child
Aleksandra Alderman MD
INTRODUCTION
The term “physically challenged child” indicates that a child has a limitation in performance of motor function. This term encompasses a wide variety of diagnoses and affects all pediatric age groups. In the mildest expressions of these diagnostic entities, a child actually may overcome the condition. Most physical challenges, however, are chronic, persisting to varying degrees throughout childhood despite improvements achieved with intervention.
Physical medicine and rehabilitation is the medical specialty that deals with physically challenged children. A specifically trained physician (ie, the physiatrist), therapists, rehabilitation nurses, Clinical Nurse Specialists (CNSs), psychologists, and other support professionals manage interventions. These professionals focus on improving mobility, self-care, and quality of life.
Primary care providers can support the rehabilitation management of physically challenged children while integrating their families into this process. These children require extensive support. Functional limitations present major challenges to ego and personality development. Family members will need to work through their understanding of and feelings about the chronic limitations that their children will face. Participation in therapies and interventions inevitably alters family routines and time allotment.
• Clinical Pearl
Primary care providers often are the first health care professionals to whom parents turn when they suspect a developmental delay in their child. Clinicians must judge the seriousness of these concerns fairly and compassionately. Families will feel resentful when their providers tell them that their worries are unjustified, because their child “just needs to be observed for a while” or will “outgrow” the problem. Parents also will be angry if they do not receive any instructions for home programs and intervention. In retrospect, families report that such behaviors make them feel “put off” by their child’s clinician. Chapter 36 provide suggestions for effective clinician behavior in such situations.
Certainly the initial recognition of a developmental delay, whether physical or neurointegrative, can be difficult. Observation may be appropriate, but during this period, clinicians should explain possible reasons for the problem. The family needs instruction in how to provide a home program of targeted exercises. Understanding and recognizing the functional dynamics involved in achieving developmental and physical milestones can provide the clinical foundation needed to determine the seriousness of the delay. This information also helps the provider to initiate rehabilitating therapies and to pursue additional workup for etiology.
• Clinical Pearl
For infants whose problems are not identified in the nursery, serial follow-up is the best method for detecting the onset of developmental or motor dysfunction. This is especially true during the first year of life, when most motor delays are diagnosed. Prematurity, low birth weight, neonatal complications, multiple birth, or lesions on cranial scans increase the risk of neuromotor dysfunction but are not predictive of it. The following discussion provides guidance for diagnosing and managing common motor limitations that require rehabilitative interventions.
HYPOTONIA
The infant with hypotonia (decreased muscle tone) exhibits motor limitations because of decreased strength aggravated by accompanying ligamentous laxity, especially if the hypotonia is neurologic in origin. The hypotonic infant exhibits decreased small excursion movements, weak sucking and crying, and decreased alertness. The most common clinical presentation is an infant who generally is delayed with decreased muscle tone of no obvious etiology. Identifiable causes of hypotonia include the following:
Chromosomal aberrations (eg, Down syndrome), which are diagnosed in the nursery based on readily apparent physical features and confirming blood studies; may be present without obvious features as well, particularly in the newborn facies
Many cerebral structural dysplasias
Spastic cerebral palsy (CP; especially the dyskinetic types) in the first months of life
Static brain lesions or encephalopathy
A set level of spinal cord disruption
Muscular dystrophies and myopathies
Hypothyroidism
Fetal alcohol syndrome
Many hereditary metabolic states
Toxin exposures
Prader-Willi syndrome
Autism
Epidemiology
Specific statistics on the incidence of hypotonia are unavailable, but the reader should be aware that hypotonia is a common newborn presentation. The epidemiologic literature has not described the relationship between the incidence of hypotonia and maternal behaviors. The reader is referred to the general epidemiologic information presented in Chapter 16 (The Premature and Low–Birth-Weight Infant).
History and Physical Examination
The following are indications of hypotonia:
The infant has difficulty picking up the head, even to clear the nose when prone, with sagging, minimal, or no righting responses (head lag).
The trunk exhibits no righting and tends to slip through the examiner’s hands when he or she holds the baby up.
The muscles have a softer feel when palpated, and the joints are less stable.
Diagnostic Criteria
When an infant is first noted to have diffuse hypotonia after discharge from the nursery, there are several diagnostic possibilities. Priorities are the infant’s medical status, requirements, and maturational state.
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Most developmental disabilities and psychomotor delays have varying degrees of associated hypotonia and ligamentous laxity, even if no etiology can be identified (as often is the case). Even if the underlying reason for hypotonia is unknown, intervention should begin as soon as the motor problem is noted. Rehabilitation is based on what the infant is doing and what movement difficulties are seen.
Diagnostic Studies
The infant with hypotonia who develops increased muscle tone after nursery discharge requires a diagnostic evaluation if earlier studies to provide a reasonable etiology were not done. For the infant whose cranial scans in the nursery showed lesions of cerebral insults (such as periventricular leukomalacia, porencephaly, and enlarged ventricles), hypotonia may be evident at first, even if spasticity emerges later.
• Clinical Pearl
If any doubt exists about the compatibility of previous findings with emerging signs, the infant should undergo a neurologic evaluation.
Management
After 9 months of age, manifestation of significant delays becomes increasingly unlikely if the infant has progressed normally through developmental stages. For example, infants who sit and crawl normally will be able to ambulate. By this age, the provider already should have identified any infant who is exhibiting gross motor delays or limitations, referring the child to an appropriate intervention program. The infant who exhibits deviations in normal motor function is likely to have alterations in pulling to stand and walking, unless interventions have minimized these problems. Some variations still may occur dynamically with pulling to stand or ambulating, even though previous patterns were normal. The reader who desires a review of normal motor development is referred to Chapter 8.
Clinical Warning
Early recognition of manifestations of physical limitations, including relevant muscle tone deviations that may indicate a need for intervention, is crucial. Failure to meet a motor milestone is a strong sign that a child needs help. A delay in referring a child for intervention to see if he or she will “catch up” is not wise. Ignoring a motor delay can lead to extended follow-up.
If a pattern of development is deviated enough, intervention may need to begin before a delay actually appears. The provider must inform the family about which functional patterns may be inhibited, while giving them specific instructions for activities that will promote the infant’s development. With very mild deviations and borderline or no delays, this plan may be adequate in guiding the baby toward subsequent normal gross motor development. With early intervention, infants with mild delays and dynamic deviations may progress to normal functional levels and no longer be physically challenged. Depending on how a community manages their early intervention services, a provider may be able to follow the child and coordinate service delivery with the support of therapists until the child achieves functional mobility.
Several rehabilitative devices can assist the child with hypotonia to improve limb mobility and usefulness. In addition to standard devices, therapists can individualize rehabilitative equipment and regimens when specific needs exist. The provider should expect that therapists will recommend at least some of the following aids and activities for the child with hypotonia:
Ankle level braces called supramalleolar orthoses (SMOs) to prevent deviations from worsening
Articulating ankle foot orthoses (AFOs)
Exercises to strengthen the quadricep and hamstring muscles, train the child to walk with a narrower base, and use more appropriate transitions. Such exercises require the family’s intensive attention to help the child develop proper ambulation patterns so that they can become established habits.
HYPERTONIA
Hypertonia is a condition of increased muscle tone. Specific statistics on its incidence are unavailable. As with hypotonia, the reader should be aware that hypertonia is common in newborns. The epidemiologic literature has not described a relationship between the incidence of hypertonia and maternal substance abuse. The reader is referred to the general epidemiologic information that is presented in Chapter 16.
History and Physical Examination
To assess the infant appropriately, the provider needs adequate time to obtain a thorough history and to perform a complete examination of function and tone. The history should include the infant’s feeding patterns, temperament, activity level, sociability, tolerance of handling, and any parental concerns.
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Parental concerns are particularly valuable indicators for providers to consider when examining infants with hypertonia.
The examination requires placing the infant in the following positions: supine, prone, side-lying, and supported sitting on the examining table and parent’s lap. The provider also should hold the child suspended in the air prone and sideways. The provider observes and handles the infant to assess quality of movements, tonal responses, primitive reflexes, quality of grasping, visual attending to hands and toys, social regard, and the ease with which crying can be calmed.
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To identify hypertonicity early, the provider will need to conduct the examination serially over several visits.
Diagnostic Criteria
The earliest signs of hypertonia are reflected in the head, trunk, and extremities, with patterns often seen as precocious development. The following features identify hypertonia:
In the first 2 months, maintenance of a fully elevated head while prone is sustained and excessive. Parents should monitor this behavior.
The infant prefers the side-lying position, arching backward and possibly extending the legs, rather than lying in the normal flexed or curled position.
Excessive hand-fisting is tighter and more sustained than the usual fisting prevalence seen in the first months. This sign is a possible indication of spasticity, as is the predisposition for extension in the lower extremities.
The child exhibits an excessive support response, especially with the knees fixed in extension and with toed foot placement.
The infant’s body feels especially firm. Overall extremity movements are decreased both in frequency and range of excursions so that overall activity level is decreased. These findings may be seen in what otherwise is a more reactive system, with increased irritability, tremulous quality, inability to accept sudden changes, and overactive deep tendon, clonus, and primitive reflexes.
The reflex grasp response is increased and sustained.
The Moro reflex, the most familiar of the postural primitive reflexes, is excessive and prolonged in expression, lasting beyond the expected age.
Sustained tonic neck reflex, obligatory or expressed with increased intensity, lasts beyond the expected age.
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These extension patterns are seen as transient hypertonic patterns in many premature infants. Subsequent normalized development may follow, especially when flexion is facilitated. These signs, however, also may be the first manifestations of spasticity that will continue to increase as the nervous system matures.
Management
The foregoing manifestations of hypertonia are key to detecting significant motor problems. They also are the focus of intervention programming, with therapies directed at inhibiting these signs to facilitate more volitional control. Hypertonic patterns and reflexes can predict pending delays even when actual milestones are still normal. Not all these signs and reflexes will be present, and they may appear at different times. While continuing to support the family, the provider should refer the infant with hypertonia to a pediatric neurologist for a more focused evaluation and to devise appropriate management strategies.
Feeding difficulties that may occur in the infant with hypotonia or hypertonia can be dealt with by improving positioning. A specially trained speech therapist can work with the baby to enhance oromotor responses.
CEREBRAL PALSY
Cerebral palsy is the most frequently seen disorder of major hypertonic motor limitation. Most sources quote an incidence of between 2 and 5 out of 1000 births (Braddom, 1996; Nelson, Behrman, Kliegman, & Arvin, 1996; Nelson, 1998). CP is defined as a nonprogressing encephalopathic injury or lesion to the developing brain. The affected child presents with abnormal muscle tone and varying movement disorders.
Pathology
Causes of CP vary; it may be congenital or result from an insult prenatally, at birth, or during early infancy. Manifestations of CP may be delayed.
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The most prevalent risk factors for CP are marked prematurity (younger than 32 weeks) and very low birth weight (less than 1500 g) (Braddom, 1996).
In premature infants, the less-developed vascular beds are particularly prone to hemorrhage in the germinal matrix, with involvement in the intraventricular or periventricular areas. The latter problem leads to periventricular leukomalacia, one of the most frequently seen predisposing cerebral insults among premature infants who develop CP. Many factors can establish an environment for cerebral injury, however, and prenatal factors are increasingly being considered more relevant. Infections are emerging as an important cause. Most premature infants do not go on to have CP.
Nearly half the children who have CP were not premature (Nelson, 1998). Causes of CP in term infants vary. The cerebrum is more mature and less vulnerable in term infants than in premature infants, especially because its vascularity is improved. The mechanics of the delivery process and all the etiologies that can lead to malformation or brain injury prenatally, during birth, or in the neonatal period, however, still can occur. For many children, a cause is never identified. The reader should refer to a current pediatric neurology text for further information on the causes of CP.
History and Physical Examination
Infants with CP present with different categories of muscle tone and movement disorders. A spastic muscle tone pattern is most common, occurring in approximately 75% of cases (Nelson, 1998). Spasticity is a specific form of hypertonicity, resulting from injury to the pyramidal part of the nervous system. Spasticity manifests as abnormal upper motor neuron reflexes, persistent primitive reflexes, increased muscle tone, and increased resistance to muscle stretch or elongation. The latter condition is known as a clasp knife phenomenon, with distinct release of resistance during stretching that is reproducible. Spasticity usually occurs in a diplegic, hemiparetic, or quadriparetic pattern, reflecting the location of cerebral motor involvement. Diplegia affects primarily the lower extremities. Hemiparesis affects the upper and lower extremity on the same side. Quadriparesis affects the bilateral upper and lower extremities. The hemiparetic form is slightly less frequent than the other variants, while the diplegic pattern is particularly likely with prematurity. Triplegic presentations are rare, usually with relative sparing of an upper extremity.
Dyskinetic Cerebral Palsy
Dyskinetic CP reflects injury to the extrapyramidal system. This form usually has a quadriparetic involvement manifested by involuntary, irregular movements. Hypotonia and developmental delays are the initial features seen in early infancy with dyskinetic CP.
Athetosis is the most frequent form. Fluctuating muscle tone is the basic feature, ranging from flaccidity to rigid posturing. The intensity of irregular writhing movements varies and will be increased by stress or activity. These movements may be absent or mild at rest but may involve the entire limb when the child tries to reach. Speech may be blocked or very dysarthric. Swallowing may be difficult, leading to drooling and feeding problems. Another prominent feature of athetosis is persistent and exaggerated primitive reflexes, which are present in the initial hypotonic phase that precedes other findings. The most likely cause of athetosis is diffuse prenatal brain insults. Thus, athetosis is more likely to be seen in the premature infant who is susceptible to this damage at lower bilirubin levels. It may present during infancy, with tonal fluctuations commonly seen first about the mouth and face.
Ataxic CP, quite rare, is considered a dyskinetic type of CP, because fine and gross motor incoordination have the quality of a movement disorder generated by the nervous system that is not based primarily on a tonal state. The major feature is hypotonia of trunk and extremities, with unsteady postural patterns resulting from decreased equilibrium and titubation. The child’s extremities exhibit jerky, coarse tremors, dysmetria, and past pointing. Dysarthria and nystagmus also are common. The dynamics described with ataxia suggest cerebellar damage. When it is present, the provider must consider cerebellar tumors, vascular and metabolic pathology, and many genetic syndromes. A careful diagnostic evaluation should be done, with referral to a geneticist and a pediatric neurologist. Ataxia appears earlier than athetosis, with unsteady reaching, difficulty in propping on upper extremities, and unsteadiness with sitting that may be titubating or with irregular jerky shifts. The child with ataxia usually will gain skills, although delays depend on the degree of ataxia and hypotonia.
Mixed-Type Cerebral Palsy
A frequent presentation is mixed-type CP. Most children with spasticity also have underlying hypotonia noted with head and trunk control. A common combination is a mix of athetosis with spasticity and underlying hypotonia. Other less frequent combinations include ataxia or dystonia. Management is based on controlling the primary deviating clinical patterns to facilitate development. Hypotonic CP is another rare form, presenting with severe, diffuse hypotonia. A pediatric neurologist will need to do the workup for this child (as described under hypotonia). Only when a more specific diagnosis is not possible will the diagnosis be made of hypotonic CP (Nelson, 1998).
Management
The provider should initiate intervention with physical, occupational, and speech therapies as soon as functionally limiting signs appear. Therapists should instruct family members about their role in carry over of therapy. Rehabilitative activities require comanagement by therapist and family so that interventions occur daily or more frequently. The provider’s role as coordinator of services is key to successful intervention, because he or she can support the family through the stresses and demands of carrying out a therapeutic regimen several times every day.
The therapy team teaches the family how to carry out proper stretching methods at home, where the child is most comfortable and relaxed. The family can establish a routine that works best and allows adequate time for the activity. Diversion of the stretching regimen to home means that therapists can use their sessions to concentrate on helping the child develop more varied mobility and postural control skills.
Family and therapists must incorporate supportive seating early for proper postural symmetry and trunk alignment that will prevent spastic trunk hyperextension or underlying hypotonic sagging. They must facilitate rolling, crawling, sitting, and eventually, assisted standing. These children usually require AFOs to control toeing and to maintain proper alignment with standing. They may need AFOs very soon if sustained plantar flexion posturing is of a degree that would lead to range loss. Children progress to gait training when they have achieved adequate postural control. Children who are able to override their primitive reflexes by 18 months and sit independently with control by 2 years are likely eventually to walk at a functional level, although usually with braces (Nelson, 1998).
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Whether the child is ambulatory or not, the goal is to work with the child at regular therapy intervention levels until he or she has achieved a functional plateau and quality of movement dynamics. At that point, therapies are reduced gradually to monitoring frequency. The amount of function the child achieves depends not only on the type and degree of neurologic disability, but also on the child’s intelligence, temperament for working with the rehabilitation process, and degree of carry over by family and, when applicable, school.