Children with Disabilities

Martin Diamond

Michael Armento

The rehabilitation of children with physical impairments in some ways resembles and in many ways differs from that established for adults. It is a challenging combination of normal child care and the best of rehabilitation intervention strategies. Successful rehabilitation interventions require the understanding that a child is not merely a miniature adult, and that specific physiologic parameters exist that either complicate or allow unique intervention opportunities. This chapter reviews the scope of disabling disorders that occur in childhood, the specific differences between children and adults that relate to their special needs, and the basic principles of management of disabled children. The specific management of various childhood disorders will be found both within this chapter and within relevant sections of other chapters.

The various disabling disorders that occur in childhood may be characterized as congenital if they are acquired before birth and are not due to known external environmental factors during the birth or postbirth period. Otherwise, conditions are considered to be acquired. Congenital problems may be further specified by cause as either genetic or influenced by some extrinsic factor, even though the effect was expressed in the prenatal period (e.g., fetal alcohol syndrome). Acquired disabilities usually are the result of trauma, infection, or other causes.

Developmental disabilities in children exert a major impact not only on the child’s ability to function in the family and in society, but they also result in 1.5 more doctor visits and 3.5 more hospital days per year than for nondisabled children of similar age. In addition, these children typically lose twice the number of school days annually, and there is a 2.5-fold increase in the likelihood of repeating a grade in school when compared with the general population of children. This impact is much greater in children with multiple disabilities or with either cerebral palsy (CP), seizures, delays in growth and development, or emotional or behavioral problems (1).

THE PEDIATRIC PATIENT: DIFFERENCES TO CONSIDER

Knowledge of the patterns of growth and development is key to understanding, anticipating, and managing the difficulties that disabled children experience. In the child’s early years, head circumference, weight, and height are important parameters to monitor. Standard tables of growth and development may be used to record and compare disabled children with the healthy population (Tables 56-1, 56-2, 56-3).

Physiologic Performance

Children change with age and size in a number of physiologic parameters. Normal heart rate, respiratory rate, heat transfer behavior, and various chemical assessments all change as a function of age. For example, serum alkaline phosphatase levels may be elevated compared to adult reference values in an adolescent not because of the presence of occult heterotopic ossification but rather because of normal accelerated bone growth.

The question of enhanced neural plasticity in youth remains open. Conflicting data appear in the literature to support or reject this concept, but the clinical management implications are generally well accepted: the more treatment that is administered earlier after disease onset and at a younger age, the better the outcome seems to be.

A number of neurologically mediated reflex behaviors are age and development dependent. For example, the asymmetric tonic neck reflex (ATNR) (Fig. 56-1) is a normal behavior when elicited at 2 to 6 months of age, but may be distinctly abnormal when it is persistent and dominant many months later.

Primitive Reflex Patterns

Because they are more commonly observed in children with physical disabilities, the major primitive reflex patterns that may either interfere with or facilitate skilled motor actions should be well understood. The times of appearance and disappearance of these reflexes in the developmental sequence are summarized in Table 56-4.

The most basic proprioceptive patterns are the flexion and extension synergies of the upper limbs and lower limbs. In the upper extremity, the full flexor pattern is more commonly seen in CNS lesions, while in the lower limbs, extensor patterns are usually seen. Upper extremity flexor patterns include shoulder adduction, flexion, and internal rotation with elbow flexion, wrist pronation and flexion, and finger and thumb flexion (Fig. 56-2). The thumb is frequently tightly adducted and flexed into the palm. The extension posture of the lower limb includes hip adduction, extension, and internal rotation, along with knee extension, internal tibial rotation, and equinovarus foot posturing (Fig. 56-3). In both these postures, the fingers
and toes appear to be influential in establishing the dominance of one or the other posture. It is frequently noted that forcing the toes into extension will facilitate a full flexor synergy of the lower limb. Similarly, placing the flexed thumb in an abducted and extended position will frequently facilitate a full extensor response in the upper limb.

TABLE 56.1 Number and Percentage of Students 6-21 Years of Age Served under IDEA Part B and Chapter 1 of ESEA (SOP) by Disability: School Year 1991-1992

	IDEA Part B		Chapter 1 (SOP)		Total
Disability	Number	Percent^a	Number	Percent^a	Number	Percent^a
Specific learning disabilities	2,218,948	98.7	30,047	1.3	2,248,995	100.0
Speech or language impairments	990,016	98.9	10,655	1.1	1,000,671	100.0
Mental retardation	500,986	90.4	53,261	9.6	554,247	100.0
Serious emotional disturbance	363,877	90.8	36,793	9.4	400,670	100.0
Multiple disabilities	80,655	82.0	17,747	18.0	98,402	100.0
Hearing impairments	43,690	71.0	17,073	28.1	60,763	100.0
Orthopedic impairments	46,222	89.4	5,468	10.6	51,690	100.0
Other health impairments	56,401	95.8	2,479	4.2	58,880	100.0
Visual impairments	18,296	75.7	5,873	24.3	24,189	100.0
Deaf-blindness	773	54.3	650	45.1	1,423	100.0
Autism	3,555	68.3	1,653	31.7	5,208	100.0
Traumatic brain injury	285	85.4	45	13.6	330	100.0
All disabilities	4,323,704	96.0	181,744	4.0	4,505,448	100.0
^aPercentages sum across rows.
Reprinted with permission from Ing CD. Summary of data on children and youth with disabilities. Washington, D.C.: U.S. Department of Education, National Insititute on Disability and Rehabilitation Research, Office of Special Education Programs, 1993.

TABLE 56.2 Examples of Gross Motor Milestones for Comparing Disabled Children with the Normal Population

Age	Activity
2 mo	Head in midline
3 mo	Prone prop on extended elbows
4 mo	Rolls prone to supine
5 mo	Rolls supine to prone
	Infantile “swimming”
	Pivot circles in prone
6 mo	Sits with straight back
9 mo	Crawls on hands and knees (“creeps”)
	Transitions into sit from four-point
10 mo	Pulls to stand through half-kneel cruises
12 mo	Independent ambulation
15 mo	Comes to stand independently
18-19 mo	Climbs into adult-size chair
21-24 mo	Up and down stairs with hands on rail
30 mo	Jumps clearing ground and lands on feet together
3y	Pedals tricycle
	Climbs up stairs alternating feet
	True run
4 y	Hops, gallops (not true skipping)
	Walks down stairs alternating feet
5 y	True skipping

Lateral rotation of the head on the trunk produces the ATNR (see Fig. 56-1). This is the classical fencer’s posture of extension in the upper and the lower limbs on the nasal side, and flexion of both limbs on the occipital side. The symmetric
tonic neck reflex (Fig. 56-4) describes midline effects of flexing and extending the head on the body. Flexion of the neck facilitates flexion in the upper limbs and extension of the lower limbs. Extension produces the opposite pattern.

TABLE 56.3 Examples of Gross Motor Milestones

Age	Activity
2 mo	Head in midline
3 mo	Prone prop on extended elbows
4 mo	Rolls prone to supine
5 mo	Rolls supine to prone
	Infantile “swimming”
	Pivot circles in prone
6 mo	Sits with straight back
9 mo	Crawls on hands and knees (“creeps”)
	Transitions into sit from four point
10 mo	Pulls to stand through half-kneel cruises
12 mo	Independent ambulation
15 mo	Comes to stand independently
18-19 mo	Climbs into adult size chair
21-24 mo	Up and down stairs with hands on rail
30 mo	Jumps clearing ground and lands on feet together
3 y	Pedals tricycle
	Upstairs alternating feet
	True run
4 y	Hops, gallops (not true skipping)
	Down stairs alternating feet
5 y	True skipping

FIGURE 56-1. The ATNR.

The vestibular system mediates static postures and dynamic postural reactions. These are important movement patterns that facilitate the development of mobility skills. The most commonly seen static vestibular pattern is the tonic labyrinthine reflex. This pattern, facilitated by the supine position of the head, demonstrates lower extremity symmetrical extension with upper extremity shoulder abduction and external rotation. In the prone position, shoulder adduction and internal rotation are accompanied by lower extremity flexor posturing.

TABLE 56.4 Normal Acquisition and Regression of Primitive Reflex Behaviors

Reflex	Age of Onset	Age Reflex Disappears
Moro	Birth	6 mo
Palmar grasp	Birth	6 mo
Plantar grasp	Birth	9-10 mo
Adductor spread of patellar reflex	Birth	7 mo
Tonic neck	2 mo	5 mo
Landau	3 mo	24 mo
Parachute response	8-9 mo	Persists
Reprinted with permission from Swaiman KF, Jacobson RI. Developmental abnormalities of the central nervous system. In: Baker AB, Joynl RJ, eds. Clinical Neurology. Philadelphia, PA: Harper & Row; 1984.

FIGURE 56-2. The flexor synergy posture in the upper extremity.

Cutaneously mediated reflex patterns include palmar and plantar grasp, elicited by tactile pressure over the respective sites. In young infants, the stepping response is an example of a kinesthetic reflex and is seen as a result of loading one limb (e.g., by vertical suspension) and stimulating the dorsum of the opposite foot, which is presumably a cutaneous influence as well. The positive supporting reaction occurs pathologically in older children when a loading of the suspended child’s plantar surface results in a symmetric extension pattern of the lower limbs.

Child Development

In any assessment of children, one cannot overemphasize the importance of measuring performance against age-expected norms. An understanding of all areas of normal development is essential if an abnormality is to be recognized (2,3).

FIGURE 56-3. The extensor synergy posture in the lower extremity.

Psychosocial Development

Frequently, children may be infantilized by family and caretakers as a response to guilt or pity for the child. Conversely, some may be assumed to be more mature than is really the case, particularly if much time has been spent in the company of adults in hospitals and other health care settings.

Children who grow up with a physical limitation usually do not have a sense of loss of ability. It is usually around adolescence, when social sensitivity and maturity cause adaptation problems to surface. In the early years, it is important to help the child and family identify the child’s strengths and abilities so that, despite the disabilities, a sense of confidence and self-worth can be built (4).

COMMON CONCERNS IN TREATING DISABLED CHILDREN

Although the disabling disorders of childhood are widely varied, they share a number of common medical issues and potential as well as active problems. These will be discussed below as well as under specific clinical conditions. Routine well child care should not be overlooked, with careful attention paid to monitoring of growth parameters, nutrition, and especially immunizations, since the more seriously ill child may slip through the cracks of the well child system and fall behind in immunizations. Due to their particular susceptibility to infection, pneumococcal and influenza vaccinations should be given routinely.

FIGURE 56-4. The symmetric tonic neck reflex.

Additional areas of medical concern will be reviewed under appropriate sections of specific clinical conditions as they differ somewhat in their presentation and treatment approach. These include spasticity and the various orthopedic conditions of contractures, scoliosis and hip dysplasias (5), bowel and bladder incontinence, decubitus prevention, and gastroesophogeal reflux.

Functional issues are common to many diseases and disabilities. Specific management strategies vary with the particular disease, but the determination of goals and objectives is largely independent of the specific disease.

The desire and ability to communicate is the highest priority in managing a child with a disability. This allows the child to interact with his environment in spite of what may be profound physical impairment. Communication need not be vocal in nature to be effective. Gestures and signs may be used if motor control allows. As simple a movement as control of eye gaze may allow use of assistive devices as primitive as object boards to as sophisticated as computer-assisted voice output devices. What is important is not the technology but the identification of the potential for communication and the development of a system that allows a child to live up to his or her potential.

Second to communication in priority is the child’s ability to control his or her motion in three-dimensional space. Frequently, children are provided with passive transportation instead of the technical ability to achieve independent mobility. From a developmental perspective, newborns start experiencing self-directed movement in space in their cribs, and a child who is crawling and creeping is acquiring substantial knowledge about the world by navigating within it. It is important not only to provide convenient transportation for parents but also to give the child control over his or her own mobility. As in communication, the devices used are dictated by whatever movement control the child demonstrates. Early prone mobility may be facilitated by wheeled prone boards, while once the child can be positioned in sitting, this can be replaced by caster carts and later by appropriately designed wheelchairs. For the child who is unable to propel a manual wheelchair, there are powered vehicles. Limited research has supported clinical observations regarding the age at which a child can control a powered wheelchair (6). By 18 months, the child may be able to acquire the eye-hand coordination necessary to control a wheelchair with a joystick. More sophisticated steering controls such as wafer, head or mouth switches require more advanced developmental levels. For the child with ambulation potential, lower extremity orthotics provide optimum positioning of pivots for safe gait, while upper extremity assistive devices may provide necessary stability.

The more severely impaired children frequently need adapted seating and positioning systems to achieve a number of developmental goals. General goals include normalization of tone, symmetric positioning, and improved trunk alignment. This often facilitates use of the head or upper limbs for communication, self-care, and educational activities. Side-lying devices may facilitate function and maintain trunk flexibility for floor and bed-level activities. Adapted seats are useful for spasticity management and the facilitation of upright activities. Car seating that is safe from both a postural and a crash safety perspective gives secure travel capacity to the child and family. Standing devices allow vertical alignment, weight bearing, and experiences in the upright posture although the effectiveness in reducing osteoporosis has not been shown.

Self-Care Activities

Appropriate goal setting is most important. Infantilization will often limit the achievement of the child’s potential. However, unrealistic goal setting should also be avoided. Few methods for the quantified assessment of functional abilities in children exist.

Education

Whereas vocational rehabilitation is an important consideration for the adult with a disability, special education is important to the child with a disability. The laws and services for children with disabilities vary with state and local school systems, but some common features are present. According to federal law (PL94-142 and PL99-457), the goals of special education are to provide “free and appropriate public education” in the “least restrictive environment” for a child. Part H of PL 99-457 mandates that participating states also provide early intervention services for children with developmental disabilities from birth to 2 years of age. Services that may variably be incorporated into this type of educational program include special education, physical therapy, occupational therapy, speech and language therapy, adaptive physical education, psychological and social work services, and nursing services. In each case, these services become school system responsibilities in that they are necessary for the child to participate in an individualized education program, a specific educational plan with goals, objectives, definition of services, and time frames.

The role of health care professionals in the special education system is an advisory and participatory one. Programs developed within a school setting should be consistent with those established out of school, in both the home and other therapy settings. School programs should not let therapeutic goals obscure their educational objectives. Programs that effectively integrate medical rehabilitation needs with those of education are the most effective (7).

Play

Children with disabilities frequently need special assistance in achieving the ability to play successfully. Recreational therapy, music therapy, art therapy, play therapy, and other interventions may be helpful in allowing a child to find mechanisms to express himself or herself and to experiment with future skills and roles.

Adapted toys and games are useful. Battery adapters that allow external switch control of any electric or electronic device may give the child with a severe disability the option to play with age-appropriate toys while possessing only limited physical skill.

Children also may need special assistance in experiencing group play. Participation in nursery school programs, play groups, and other endeavors will allow the child to experience play with other children both with and without disabilities. Parental counseling and resource identification may be necessary to facilitate these activities.

Social Skills

Children with disabilities are often found to be deficient in adaptive social skills because of a variety of factors, including
limited normal childhood experiences and relatively more intensive involvement with the health care community. Efforts may need to be taken to assist a child and family to identify specific behavioral issues and find methods to overcome them. The concept of a child having acquired learned helplessness is useful as a perspective for parents and health care professionals in dealing with these issues.

As these children reach adulthood, they frequently remain in the home setting with their parents long after most young adults have elected to live independently. They also demonstrate a much higher rate of unemployment than their nondisabled counterparts (8).

Parenting Skills

Just as normal child parenting is a challenging experience, so too is parenting a child with a disability. It is further complicated by the challenges of health and social impairments experienced by the child and family. Many parents need assistance and guidance in coping with what are really normal parenting issues in their care for the child with a disability.

Common problems include discipline maintenance and difficulty in setting appropriate levels of expectation of responsible behavior. It may be helpful to counsel the parents on how to distinguish the special limits and expectations that are appropriate for the disability from normal parenting issues, such as control and authority challenging. Introducing families to parents of other children with disabilities is also a very positive strategy.

Sexuality

Managing the emerging sexuality of a child with a disability requires knowledge, an openness and willingness to discuss, and anticipatory strategies. Many of the early needs of these children are simply for accurate and age-appropriate information about sex and reproduction in general, as well as the child’s specific abilities or limitations based on the disability. Frequently, knowledge about the child’s sexual and reproductive potential is also needed by the parents.

Education and counseling for the adolescent child are often necessary. Children may express their underlying sexual concerns through other behaviors, including social withdrawal and depression. A high index of suspicion of the need for sexual education and counseling should be maintained by the involved health care professional.

Independent Living

A long-term perspective on the child’s potential to live independently should be adopted from an early age. Realistic goal setting is the essential first step for any long-term rehabilitation program and for attaining independence. It is frequently possible to distinguish at an early age the child who will need some type of supported living situation in the long term. Helping the family and school system to identify these expectations early on will facilitate appropriate school programming and long-term planning.

It is unfortunately all too frequent that one encounters a seriously developmentally disabled adult 30 to 40 years of age who lives with his or her parents until the parents become infirm or die. Many times there has been inadequate planning for legal, estate, and practical matters that suddenly become crises. The solution to these types of problems is prevention by ensuring that they are anticipated long before they become a reality.

EVALUATION OF THE CHILD WITH A DISABILITY

There are several objectives to be achieved in the evaluation of a child with a disability.

First, one should determine the type and etiology of the disability. This is based on a careful history and physical examination, including careful assessment of all areas of development from birth to present. Review of previous medical records and evaluations by other members of the rehabilitation team may be helpful. Next assess the child’s potential to benefit from rehabilitation services. In addition to biologic potential, outcome may be affected by the family’s adjustment to their child’s disability and their ability to support the therapy program.

Evaluation by the Physician

It is essential that the physician establish rapport with both the child and family members present. Young children are typically frightened by any encounter with health care personnel. The most critical factor in obtaining useful data from the initial history and physical examination of a child is the development of a cordial relationship with the child and family as early and rapidly as possible during the interview process. The environment in which the examination is conducted must be as nonthreatening as the demeanor of the physician. Toys and children’s artwork are useful tools in creating such an atmosphere. The physician should present as much of a friendly image to the child as possible. Attention to seemingly unimportant factors such as not wearing a white coat in the child’s presence and sitting while examining or interviewing the child can have a major impact on the development of a cordial relationship. Other helpful measures include smiling frequently and assuring the child that he or she is not in your office to receive shots from you. If size permits, use the parent’s lap as the “examining table.” In the history, a careful review of the pregnancy and birth history as well as the family history is essential. In children with acquired disabilities, detailed information about the illness or injury that produced the disability should be obtained. A detailed developmental history should be elicited. Comparing the development of the child with a disability to other healthy children in the family often facilitates this process. The administration of standard developmental assessment tests adds valuable information in identifying the specific areas of developmental delay in all functional areas.

The initial physical examination should be brief with as much of the examination as possible conducted by observation of the child. Much of this can be accomplished while taking the history. Everything the child does is a hint to their developmental levels in all areas of performance. Actual physical contact
can be kept to a minimum. Considerable data regarding basic motor skills such as head and trunk control, reciprocal creeping, standing balance, and gait patterns can be obtained in this manner. Quality of movement can be easily assessed and may actually be more reliable than when performed upon request (i.e., the “doctor walk” of the mildly affected CP child). Toy play may allow observation of fine motor skills as well as the ability for imaginative play and social interaction.

Assessment of the developmental reflex profile should be performed. Manual muscle testing is usually not possible in a child less than 5 years old. Observation of an infant’s spontaneous movements as well as of the child during play provides the examiner with information about antigravity muscle strength. Muscle tone should be assessed not only for the degree of tone (i.e., low, normal, or high), but also for the pattern of tone and what activities may trigger abnormal tone. Significant fluctuations in muscle tone should be noted along with a description of factors that seem to cause the fluctuation. For example, in children with spasticity, a marked increase in tone of a given muscle may be produced by a sudden stretch of that muscle or its tendon. In children with athetoid CP, tone fluctuations may be produced by startling the child with an unexpected touch or loud noise.

Deviations from normal range of motion in any of the limbs should be recorded. In cases where limitation of range of motion exists, the family should be questioned regarding their observations as to whether such tightness is static or progressive and approximately how long it has been present. Monitoring of height, weight, and head circumference is an important routine assessment. Use of the normative charts for comparison purposes is appropriate. Significant deviations in the pattern of growth should be noted and explained. Difficulties in growth may be the result of chronic illness, nutritional deficiency, or chronic gastroesophageal (GE) reflux, along with a host of other specific problems.

In children of school age and above, the sensory examination including vision and hearing can usually be completed successfully. In younger children and particularly in infants, the sensory examination will primarily consist of the child’s response to noxious stimuli such as a pinprick. The response is usually crying and/or withdrawal.

Sensorineural testing in children under 4 years of age is usually limited to simple screening examinations due to the inability of the child to provide consistent responses to testing. The child’s ability to follow objects with his or her eyes combined with observation of spontaneous eye movements or their absence can assist the physician in determining whether more definitive testing is needed. The child’s ability to respond or localize sounds can help to make similar determinations with regard to hearing. Vision and hearing testing in infants and younger children suspected of abnormality in these functions will require the use of sophisticated measurement devices by physicians specializing in those areas. Auditory and visual brain stem response testing has proven to be very useful in assessing these functions in children too young to respond to standard screening tests. Older children can be screened for visual and auditory function using the same testing techniques used for adults.

Instruments used in the neurologic examination such as reflex hammers and tuning forks should be shown to the child before they are used. It is often helpful to allow the child to play with them before the testing.

The data obtained at the initial evaluation may be synthesized using various tools described below and used as a basis for future comparisons during the treatment process as the child grows. Commonly used screening tests for developmental assessment include the Bailey Scales of Infant Development, designed for children from birth to 30 months and the Denver Developmental Screening Test. Both are easy to perform but are relatively insensitive to increments of developmental progress that may occur in children with severe disabilities.

Quantitative analysis of motor performance of children is accomplished by several strategies. First is the measurement of physical parameters, such as range of motion and strength, and physiologic parameters, such as heart rate and respiratory rate. Timed trials of specific activities, such as the Jebson Taylor Hand Function test, may be useful as norm-referenced comparisons or sequential performance reassessments.

Quantitative descriptions of the functional activities of children with disabilities are essential for monitoring and planning rehabilitation programs. The few pediatric tools currently available include the WeeFIM (9), the gross motor functional measure (GMFM) (10), and the Pediatric Evaluation of Disability Inventory (PEDI) (11). In addition, the analytic tool for children with spina bifida described by Sousa and colleagues and the generally useful Tufts Assessment of Motor Performance (TAMP) may be used. The TAMP provides a method for structured quantitative description of developmentally oriented activities that are commonly performed by children with serious disabilities.

The Rehabilitation Plan

Once the initial evaluations are completed, rehabilitation goals and a comprehensive management program should be developed at staffing conferences, involving as many members of the rehab team as possible (PT, OT, ST, teacher, social worker, psychologist, nutritionist, nurse, etc. and especially the child and family). Often, however, services are delivered at distant sites and face-to-face conferencing may not be practical. Written, telephone, and even e-mail communication among treating professionals helps coordinate the therapeutic approach and avoids sending “mixed messages.” The involvement of the family in daily carryover of treatment strategies is vital.

Prediction of Outcome

One of the major responsibilities of the health care professional is the establishment of medical and functional prognoses for a child with a disability. From these estimates of outcome, the specific objectives and plans of management can be formulated that will guide the daily activities of the child and family. It is therefore most important to both accurately predict prognosis and at the same time be cognizant of the limits of predictability for any individual child. In general, it is important to emphasize the importance or cognition and communication over
ambulation. Discussion of the child’s strengths as well as weaknesses is vital. Even for the most severely impaired child, comfort and a stimulating environment should be the minimum achievable goals. The correct approach is to admit uncertainty when it exists, make cautiously optimistic predictions, and move forward with goals that at least provide for comfort and care for both the child and family.

SPECIFIC CLINICAL CONDITIONS

Cerebral Palsy

CP is a disorder of movement control and posture resulting from a nonprogressive lesion to an immature brain, occurring in utero, near the time of delivery or within the first 3 years of life. Although more than 50% of cases of CP have no known etiology, several factors, occurring at different points in time, are thought to be risk factors for future CP.

In the prenatal period, congenital infections (TORCH— Toxoplasmosis, Rubella, Cytomegalovirus, Herpes, and others), often clinically unrecognized in the mother, can cause a spectrum of involvement, from severe microcephaly, seizures and spastic quadriplegia, to mild diplegia. Gestational toxins include iodine that may lead to diplegia and organic mercury intoxication while may lead to quadriplegia. Intrauterine subdural hemorrhage may cause hemiplegia (12). During the perinatal period, complications of prematurity include birth weight under 800 g, Grade III and IV intraventricular hemorrhage, prolonged seizures, and an APGAR score of less than 3 at 20 minutes. In full-term gestations, abruptio placenta, placenta previa, nuchal cord, or meconium aspiration can result in neonatal asphyxia, although recent evidence suggests asphyxia may be secondary to underlying prenatal malformations that also result in CP. Finally, hyperbilirubinemia secondary to Rh disease, G6PD, or ABO incompatibility may result in kernicterus, with deposition of bilirubin in cranial nerve nuclei and basal ganglia resulting in athetoid (dyskinetic) CP.

During the postnatal period, bacterial or viral sepsis or meningitis, especially within the first 6 months, can cause residual motor impairments. Traumatic brain injury can be due to child abuse (“shaken baby” syndrome with subdural hematoma and retinal hemorrhage), fall from heights, and motor vehicle accidents. Near-drowning causes hypoxic ischemic encephalopathy. Stroke syndromes with hemiplegia may be caused by traumatic delivery as well as by cyanotic congenital heart disease (e.g., Tetralogy of Fallot), clotting disorders, and ruptured arteriovenous malformations (13). Heavy metal and organophosphate ingestion can cause quadriplegia.

Clinically, gross motor delay is seen in all such patients, with lack of sitting after 6 months being the most common initially recognized deficit. Poor head control may be recognized earlier in the more involved child while delayed ambulation to after 16 to 18 months is seen in the more mildly involved. Motor delay, however, demonstrates poor diagnostic accuracy since the overwhelming majority of children showing isolated gross motor delay will eventually develop normally.

FIGURE 56-5. Opisthotonic posture in a spastic quadriplegic.

Abnormal motor characteristics (quality of movement) are often mistaken for “early” milestones, but represent influences of abnormal tone on the child’s movement capabilities; for example, “rolling” at 2 months by opisthotonic posturing (Fig. 56-5), “handedness” at less than 1 year in hemiplegics, “walking” at 4 months by reflex steppage. Additional abnormal movement patterns include w-sitting (Fig. 56-6) and sacral
sitting with posterior pelvic tilt due to hamstring spasticity, bunny hop crawling, and coming to stand through symmetric extension of the lower limbs due to poor pelvic dissociation in children with diplegia, and buttock hitching in hemiplegics. As the child achieves ambulation, abnormal gait patterns (crouch gait, “jump” stance, etc.) are seen.

FIGURE 56-6. W-sitting due to hamstring spasticity in a child with spastic diplegia.

Alterations in tone are seen both chronologically and positionally. Early hypotonia, seen universally, gives way to later hypertonia. Hypotonia or normal tone seen when the child is supine gives way to hypertonia when posturally stressed (such as ventral or vertical suspension).

Reflex abnormalities include muscle stretch reflexes as well as primitive reflex abnormalities. Infants, however, tend to be relatively hyperreflexic normally, limiting the usefulness of this finding, unless associated with either asymmetry (suggestive of a hemiplegia) or excessive spread of the reflexogenic zone (seen in severe spasticity). Hypo or areflexia is useful however in the differential diagnosis of infantile hypotonia (early CP vs. neuromuscular disease).

Primitive reflexes are body postures dictated by head position and are seen at birth, become more elicitable in the first 2 to 3 months, and normally start to fade by 4 to 6 months. Their presence after 6 months is deemed abnormal. However, the ability to obtain the reflex on every attempt or the infant’s persistence in the reflex posture for more than 30 seconds is considered abnormal at any age. Commonly elicited reflexes include the asymmetric and symmetric tonic neck reflexes, tonic labyrinthine reflex, and moro reflex. Abnormal postures at rest are often manifestations of primitive reflex patterns. Examples include fisting with cortical thumb position, extensor thrusting of the lower limbs with scissoring, and asymmetric tonic neck posturing.

The differential diagnosis of CP includes syndromes of early hypotonia (14) and developmental delay but without marked facial dysmorphisms. Two common examples include the Prader-Willi syndrome of low birth weight, normal neonatal length, hypogonadism, small hands and feet with tapered digits and a deletion of the long arm of chromosome 15 and Sotos syndrome of large birth weight, macrosomia with megencephaly, large hands and feet, prominent forehead, and advanced bone age. The Rett syndrome of normal early development leading to loss of speech by 9 to 18 months, stereotypic hand movements, sighing respirations, and spasticity is seen in females only and is associated with a genetic abnormality on the long arm of the X-chromosome (15).

Metabolic disorders include endocrine (thyroid, infant of diabetic mother), amino acid (PKU), and storage disorders (mucopolysaccharidoses).

Congenital neuromuscular diseases presenting with hypotonia, hypo or areflexia, and delayed motor development can be confused with the early hypotonic phase of CP. Examples include infantile Werdnig-Hoffman disease (WHD), congenital muscular dystrophy (CMD), congenital myotonic dystrophy (CMyD), hereditary motor/sensory neuropathies, etc. These will be discussed in greater depth later in this chapter.

Progressive central nervous system diseases may mimic CP until the appearance of neurologic deterioration. Examples include metachromatic leukodystrophy, olivopontocerebellar degeneration, Friedrich’s ataxia, and ataxia telangiectasia. HIV encephalopathy, however, is the most common intrauterineacquired neurodegenerative disease.

A thorough history for predisposing factors as well as possible neurologic deterioration should be obtained. Physical examination should stress recognition of dysmorphic features (syndromes), muscle weakness, hyporeflexia or hyperreflexia, the presence of abnormal movement patterns, and the abnormal retention of primitive reflex postures.

Laboratory examination should include blood and/or urine screens for amino acids, organic acids, serum lysosomal hydroxylase enzyme battery, thyroid function, and creatine kinase (CK) as indicated. Cultured skin fibroblasts for metabolic assay may be necessary if serum or wbc testing is unrevealing.

If diseases of nerve or muscles are being considered, electrodiagnosis allows differentiation of neuropathy from myopathy from normal with 85% to 90% accuracy for neuropathy but with only 40% accuracy for myopathy. Muscle and/or nerve biopsy as well as DNA analysis may be indicated for confirmation. MRI and cranial ultrasound in the perinatal period demonstrating cystic periventricular leukomalacia as well as ventricular enlargement may be predictive of disabling CP (16,17). CNS imaging studies are also useful in ruling out AVM or tumor in hemiplegia of unclear etiology.

Classification of CP is by tonal type and part of body involved. Spastic CP comprises 70% to 85% of cases with further subdivision based on the topographic distribution of the spasticity. Hemiplegia, diplegia, and quadriplegia account for about 90% of spastic CP’s with each contributing equally. Triplegia and monoplegia account for the other 10%.

Hemiplegia may result from focal perinatal injury and has the highest incidence of CT/MRI abnormalities, usually in the distribution of the middle cerebral artery. The most common presentation is failure to use the involved hand, although hitching on the buttocks rather than crawling on hands and knees is also seen. The upper limb is invariably more involved than the lower limb. Sensory deficits are difficult to evaluate in children under 4 years old and are likely underappreciated (18). Ambulation is usually achieved by 2 years unless severe mental retardation is an associated finding. Growth retardation of the affected side and an associated parietal lobe syndrome are seen in 50%. Initial seizures may occur as late as 5 years old. Long-term disability is usually more cosmetic than functional.

Diplegia represents the most common type of CP seen in premature babies. There is disproportionate involvement of the lower limbs, although upper limb abnormalities, manifested as motor perceptual dysfunction, are very common. Most children with diplegia eventually ambulate, although both lower limb orthoses and upper limb devices may be required and distances covered varies.

Triplegia presents with relatively symmetric involvement of the lower limbs and marked asymmetric involvement of the upper limbs.

Quadriplegics, also termed total body involved have the highest incidence of significant cognitive disability with 25% severely involved, 50% moderately involved, and 25% mildly involved. Lower limbs are usually more involved than upper limbs with asymmetries not unusual. A brief period of hypotonia giving way to early spasticity is usually a poor prognostic sign for independent mobility.

Dyskinetic (athetoid/dystonic) CP accounts for 5% to 8% of cases. In the past, most cases were associated with kernicterus due to Rh disease. Athetosis, dysarthria, sensorineural deafness, and paralysis of upward gaze were the usual signs, while intelligence was often normal, since cerebral cortex was spared. Today, dyskinetic CP is more commonly seen as part of the picture of diffuse hypoxia and may be associated with spasticity, seizures, and retardation (19). The period of hypotonia is usually longer, from 18 to 36 months, before the abnormal movement disorder appears.

Rarer types include atonic (hypotonic) and ataxic CP. The latter is usually associated with hypotonia. If spasticity is present, progressive CNS diseases such as Friedrich’s ataxia must be ruled out.

Prognosis for Ambulation in CP

“Will my child walk?” is usually the question asked most frequently by parents of a newly diagnosed child with CP. In the discussion that follows, one must clarify not only distances involved (household vs. community) but also the quality of the gait and need for both orthoses and/or upper limb assistive devices. Several clinical factors are relevant. The clinical type of CP is important. All children with hemiplegia will walk as will most with true ataxia, while those with atonia usually will not. Those with quadriplegics, diplegia, and dyskinesia vary. Molnar has shown that if independent sitting occurs by 2 years, prognosis for ambulation is good (20). Badell reported that ability to crawl on hands and knees by 1.5 to 2.5 years was a good prognostic sign (21). Persistence of three or more primitive reflexes at 18 to 24 months is a poor prognostic sign (22). Recently, the ability to transition from supine to prone by 18 months was shown to be a predictor of independent ambulation in spastic diplegics (23). Marginal ambulators during childhood may lose functional ambulation during or after adolescence due to progressive orthopedic deformity, insufficient muscle power and/or capacity to accommodate increased height and weight and social/emotional problems. Combinations of independent ambulation and use of wheeled mobility for greater distances should be introduced. Power mobility as a means of independent function should not be delayed in favor of awaiting walking as children as young as 3 years old can learn to “drive” (24). Parental negative feelings are rapidly replaced by positive ones once independent movement and its effect on the child are observed (25).

Associated Disabilities

Mental retardation of moderate to severe degree is seen in one third, of mild degree in another one third, with the remaining one third showing normal intelligence. In the latter group, fewer than expected fall into the superior range. Those with pure dyskinesia as a rule are the brightest, while those with atonia and quadriplegia are most involved. Retardation is usually mild in those with diplegia and hemiplegia and may be confused with learning disabilities. Preservation of receptive language skills is a better indicator of good cognitive function than expressive language. Hearing loss should be ruled out prior to making judgments regarding receptive skills. Early educational intervention is a reasonable, if unproven, “treatment” and has been mandated by federal law (Public Law 99-457, 1986).

Seizures are seen in up to 35% to 40% of children with CP (26) and are most common in postnatal CP, and about 60% to 70% of those with hemiplegia and quadriplegia. Seizures are seen in only 25% to 33% of children with dyskinesia and diplegia. Imaging may be considered to rule out structural lesions and EEG characterization is useful. Anticonvulsant management is similar to those with idiopathic epilepsy, although the risk of breakthrough seizures when medications are discontinued after being seizure free for 2 years is higher in hemiplegic CP (approximately 60%) than in non-CP children (40%). Children with diplegia have a lower rate (about 14%) of breakthrough seizures (27).

Abnormal vision is seen in 50% of children with CP. Muscle imbalances cause esotropia, exotropia, or hyperopia and are most frequent in diplegia and quadriplegia. Secondary amblyopia can occur. Homonymous hemianopsia can be seen in hemiplegia. Paralysis of upward gaze is seen in pure dyskinesia. Nystagmus is seen in ataxia. Defective tracking can be seen in all types of CP. Most importantly, the possibility of refractory errors as a cause of poor vision should not be overlooked. This is twice as common in spastic CP as in dyskinesia. Surgical correction of muscle imbalances is mostly cosmetic, while optometric “exercises” are controversial, with little evidence of lasting improvement.

Hearing loss may be conductive due to abnormal Eustachian tube function as a result of palatal distortion or sensorineural due to aminoglycoside treatment during the neonatorum. Early assessment is possible with ABRs, although this modality assesses high frequencies only and is subject to false positives in the first 6 months. Amplification for those with bilateral hearing loss is justified.

Dental problems include malocclusions and enamel dysplasias secondary to palatal distortions and abnormal oromotor reflexes (suckle/swallow, tonic bite, rooting, etc.). Inappropriate administration of tetracycline in the newborn nursery is an avoidable cause of enamel dysplasia. CP children are also at increased risk for caries due to poor handling of secretions and food, as well as due to chronic drooling. This can be a source of pain, leading to increased agitation, worsened spasticity, and greater difficulty in parental handling. The adverse social
implications for the child are obvious. Early dental treatment before 3 years old is therefore vital. Anticholinergic treatment, including scopolamine patches for drooling, holds promise with several studies showing consistent long-term improvement. Potential side effects include constipation, urinary retention, and mood changes, all of which reverse with discontinuing medication. Most recently, Botulinum toxin injection into the parotid glands have been tried with effects lasting up to 4 months reported (28).

Increased risk of respiratory infections is due to both extrinsic (abnormally high tone and poor control over chest muscles leading to poor sigh and cough mechanisms) and intrinsic (bronchopulmonary dysplasia) reasons. Early antibiotic treatment is justified.

Malnutrition is more common in moderately to severely involved children but can also affect the more mildly involved (29). Abnormal oral motor function affects ability to handle food with a resulting increased risk of aspiration. The effect of poor feeding skills on survival to adulthood is profound (30). Disordered GI motility with reflux proximally and poor transit time distally is seen. Video swallow studies with multiple temperatures and textures of food may define abnormal mechanisms, but the question of relevance to every day feeding situations has been raised. For many children, gastrostomy tube placement not only improves nutrition but resolves the tension associated with feeding, thereby improving social emotional conditions.

A “neurogenic” bladder can occur in the face of normal sensation and takes the form of either a disinhibited bladder or a spastic dyssynergic bladder due to external sphincter spasticity coupled with uncontrolled spastic detrusor contraction. Abnormal urodynamic studies have been seen in more than 85% of symptomatic patients. Similarly, spasticity of the external anal sphincter can lead to difficult initiation of bowel evacuation and secondary constipation. Cutaneous stimulation and sacral cleft massage may be useful. Ditropan for the spastic detrusor may also be helpful (31).

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