The incidence of childhood disability has increased dramatically over the past half a century from approximately 3% in 1969 to 15.1% in 2009.1,2 This dramatic increase is not only in part due to the advances in medical treatments and technology but also due to awareness of disability and the inclusion of children with behavioral and developmental disorders.1,2 Although these children comprise a small portion of the population, they account for nearly 50% of hospital days and hospital charges.3 Pediatric physiatry is a unique specialty providing comprehensive and coordinated care to children with acquired or congenital physical disabilities.
Many of the patients seen by pediatric physiatrists fall in the category of “children with special health care needs (CSHCN).” They are defined as “those who have or are at increased risk for a chronic physical, developmental, behavioral or emotional condition and who also require health and related services of a type or amount required by children generally.”4 Many see multiple subspecialists and require a general health framework, planning, and guidance. There are over 800 congenital syndromes responsible for childhood disability, so it is impossible for any single physician to be familiar with every aspect of a given disease. Effective care allows a collaboration with the breadth of expertise required but needs to have a home base for the patient and family. In 1992, the American Academy of Pediatrics defined a “medical home” as a place that “provides care that is accessible, comprehensive, coordinated, compassionate, family-centered, community-based, and culturally effective.” For CSHCN, coordinated care has been shown to result in better outcomes and fewer hospitalizations.4 The pediatric physiatrist has a key role in the maintenance of the medical home. Although physiatrists are not meant to replace primary care physicians, they play a crucial role in the coordination, identification, and maintenance of care. In addition, physiatrists are physicians of function that navigate therapeutic and supportive services and care coordination, which Benedict cited as a determinant of a high-quality medical home.5 The presence of a coordinated medical home did not just benefit the child, but the parents of CSHCN who were in a medical home were found to have better coping.6 Children and families with special health care needs benefit from having a pediatric physiatrist on the treatment team.
A pediatric physiatrist constantly assesses the needs of children with disabilities to promote growth and development. Attention to health promotion and prevention of secondary medical problems is crucial to optimize physical performance and function. An initial understanding of typical developmental milestones is critical in the assessment of a child with disability (Table 67–1).
| Age | Gross Motor | Fine Motor | Visual Perception | Language | Social–Emotional Play |
| Newborn | Arms and legs flexed Poor head control | Hands fisted Involuntary grasp reflex | Can fixate on a face at 8–15 in Visual acuity 20/400 | Startles or widens eyes to sound Variation in crying | Fixates on a face in preference to other objects |
| 2 months | Head lag on pull to sit Lifts head in prone Head erect when held upright | Grasp reflex disappears Hands open and relaxed Hands to midline Holds objects put in hand | Can track horizontally and vertically | Coos and laughs Vocalizes with vowel sounds | Social smile Responds |
| 3 months | No head lag on pull to sit Can lift chest when prone | Reaches and swipes a toy | Can track a ring in a circular motion Stares at own hand | Coos and laughs Vocalizes with vowel sounds | Interested in image in mirror, smiles; playful Laughs at active stimuli |
| 4 months | Rolls over back to side | Voluntary grasp | Localizes bull’s eye in near and far position | Squeals | (+) Gaze monitoring |
| 6 months | Can sit with support Rolls over front to back | Raking motion Transfers object from hand to hand | Can look for a dropped spoon Pulls a cord to obtain a disc | Babbles with consonant sounds Turns to orient to name | Basic emotions emerge: happiness, interest, surprise, fear, anger, sadness, and disgust |
| 9 months | Sits without support Can sit from supine Pulls to stand Crawl Cruises along furniture | Radial digital grasp Immature pincer grasp Uses forefinger to poke or roll an object | Can look for a hidden object Turns cup right side up | Says “mama,” “dada” nonspecifically polysyllabic babbling (+) Joint attention | (+) Stranger anxiety Engages in back-and-forth play and peek-a-boo Attachment to preferred caregiver |
| 11 months | Stands alone Walks with hands held | Puts small objects in a cup | Makes object association | Says “mama,” “dada” specifically Gives toy with gesture | Shows or offers a toy to adult |
| 12 months | Stands alone Can take a few steps | Mature pincer grasp Turns pages in a book | Demonstrates object permanence Attends to a picture | Says at least 1 word clearly Can identify objects | Points to an object to obtain it Attachment forms Symbolic play |
| 15 months | Begins to walk alone Gait is wide-based | Spontaneous scribbles Builds a tower of 2 blocks | Looks for a toy that was displaced Can put a circular shape in a puzzle | Says 2 words in addition to “mama” and “dada” Gives a toy on request without gesture Combines jargon and gesture | Greets people with “hi” Recognizes image of self in mirror |
| 18 months | Can climb into an adult chair Begins to run Walks up stairs with help | Builds a tower of 3 blocks Imitates a vertical line | Deferred imitation Can put 4 shapes in a formboard | Uses > 5 words; follows simple instructions Can identify 4 body parts | Points to share an experience Uses the word “no” |
| 24 months | Climbs up and down stairs Walks on tiptoes Jumps in place Runs well | Imitates vertical and circular strokes Can feed self with a spoon Puts on simple clothes | Can match 3 objects without naming Can nest 4 cups | Uses 100–200 words, 2-word phrases Speech is 50% intelligible Uses personal pronouns: “me,” “mine,” “I” Identifies 6 body parts Speaks in present tense | Responds to correction Self-conscious emotions emerge Empathy appears Parallel play |
| 30 months | Jumps from a step Hops 1–3 times on same foot | Builds a tower of 8 blocks Zips and unzips | Can sort items Can match pictures | Understands prepositions | Substitutes objects for another |
| 36 months | Can pedal a tricycle Hops 4–6 times on same foot | Copies a circle Fastens and unfastens large buttons Uses a spoon effectively Cuts paper with scissors | Demonstrates memory for a picture Can match a shape by size and color Understands spatial concepts (bigger, smaller) | Speaks in 3–4 word sentences Speech 75% intelligible Uses plurals Uses “what” and “who” questions Can identify 2 colors | Complementary role playing Increased fantasy play (superhero) Good and bad themes predominate |
| 4 years | Walks up and down steps, alternates feet Broad jump Hops on same foot | Copies a cross, square Holds a crayon well Uses a fork | Discriminates left and right | Speech is 100% intelligible Identifies gender Uses “why” questions | Cooperative play Understands the perspective of others |
| 5 years | Single-leg stance for 10 seconds Can skip | Copies triangle Prints some letters | Increased spatial awareness | Defines simple vocabulary | Increased pretend play |
| 6 years | Walks securely on a balance beam | Can tie shoes Mature tripod pencil grasp Copies a diamond | (+) Memory for complex spatial forms | Reading is by word recognition Can repeat complex sentences | Play involves games with rules Moral self continues to emerge |
Measuring a child’s height, weight, and head circumference is a fundamental component of assessing his or her health status. These perimeters should be measured and tracked over time on an appropriate growth chart for serial comparison. These three key factors are then viewed through the lens of growth and maturation.
Height or stature is a parameter recognizable at introduction. It is readily tracked. In addition to there being charts segregated by gender and race, some medical conditions, such as trisomy 21, William’s syndrome, achondroplasia, Turner’s syndrome, Prader-Willi syndrome, and Marfan’s syndrome, have special growth charts that correlate with atypical rates of growth and clinical conditions specifically associated with those disorders. An understanding of common clinical findings in these syndromes is helpful in anticipating future development (Table 67–2).
| Syndrome | Genetics/Inheritance Pattern | Clinical Findings |
| Down syndrome | Trisomy 21 | Hypotonia, flat facies, slanted palpebral fissures, small ears, mental deficiency, endocardial cushion defect (40%), short neck, hyperflexible joints, high risk for C1–2 subluxation |
| Edward syndrome | Trisomy 18 | Clenched hand with overlapping fingers, short sternum, low-arched dermal ridge, patterning on fingertips, feeble cry, ventricular or atrial septal defect, hypotonia and hypoplasia of skeletal muscles |
| Patau syndrome | Trisomy 13 | Holoprosencephaly, microcephaly, severe mental retardation, polydactyly, narrow convex fingernails, prominent (rocker-bottom) heel, cleft lip or palate, cardiac abnormality |
| Klippel-Feil syndrome | Mutation in GDF6 and GDF3; autosomal dominant | Fusion of any cervical vertebra 2–7, restricted neck range of motion, short neck, low hair line, spina bifida, scoliosis |
| Cornelia De Lange syndrome | Autosomal dominant, mutation in Nipped-B homolog | Synophrys (unibrow); hirsutism; thin, downturning upper lip; micromelia or limb deficiency; low-pitched cry; mental retardation |
| Turner syndrome | 45 XO | Short stature, lymphedema, webbed neck from cystic hygroma in infancy, coarctation of the aorta, bicuspid aortic valve, horseshoe kidney, attention deficit hyperactivity disorder, amenorrhea |
| Noonan syndrome | Autosomal dominant | Webbed neck, pectus excavatum, cryptorchidism, pulmonic stenosis, cardiac defects, short stature, scoliosis |
| Prader-Willi syndrome | Deletion of paternal chromosome 15 | Hypotonia, obesity, small hands and feet, scoliosis, excessive appetite, mental retardation |
| Angelman syndrome | Deletion of maternal chromosome 15 | “Puppet-like” gait, ataxia, jerky arm movements, paroxysms of laughter, developmental delay, speech impairment |
| VATERR association | Unknown | Vertebral anomalies, anal atresia, tracheo-esophageal fistula, radial dysplasia, renal anomaly |
| Ataxia–telangiectasia syndrome | Autosomal recessive, ATM gene mutation, chromosome 11 | Progressive ataxia, telangiectasia, dysarthria, lymphopenia, immune deficit |
| Rett syndrome | MeCP2 mutation | Regression of milestones, hand-wringing or handwashing, dystonia, breath-holding, unsteady gait, severe constipation |
| Friedreich’s ataxia | Autosomal recessive, abnormal frataxin protein (trinucleotide repeat) | Progressive ataxic gait, dysarthria, muscle weakness, decreased proprioception and vibration sense, cardiomyopathy |
Due to mechanical, neurologic, or bony deformities, stature may also be assessed differently. Using arm span or sitting height may be a more accurate assessment of a child who has significant scoliosis or lower extremity atrophy due to a neuromuscular condition.7 Alternatively, knee-to-foot segmental height has also been demonstrated to be a useful measure in tracking height.8 Although some childhood disabilities may be associated with alterations in typical growth (i.e., trisomy 21, Turner’s syndrome, achondroplasia, and Marfan’s syndrome), others may have other factors that contribute to growth failure. Growth failure, or stunting, has been associated with poor outcomes related to physical and neurodevelopmental outcomes and bone health.9,10
When evaluating a child with a disability, it is just as important to evaluate the rate and trajectory of a child’s growth as to record the absolute weight. The tables for tracking weight can also be divided by gender and specific disability. Many neurologically impaired children have difficulties maintaining appropriate caloric intake, difficulty protecting their airway, or maintaining communication.2,11 Growth failure is also commonly noted in many chronic diseases such as cystic fibrosis, cancer, chronic kidney disease, congenital heart disease, and rheumatologic diseases. Medical conditions that cause chronic inflammation such as cancer or rheumatologic conditions suppress appetite and cause loss of protein stores.12 Inflammatory cytokines in conjunction with undernutrition contribute to growth hormone resistance.13 These inflammatory cytokines, such as tumor necrosis factor alpha, can act directly on the central nervous system (CNS) to alter appetite and energy metabolism. They also can release signals that promote additional muscle wasting.14 Some children with significant neurologic impairment are at significant risk of undernutrition in an effort to keep them smaller so that they are less of a physical burden on the caregiver.2 In children with neurologic diseases such as cerebral palsy, there are also non-nutritional factors that contribute to their weakness and muscle growth. The indirect effects of decreased use, immobility, and neurologic input have an effect on weight gain and growth. Children with hemiplegia have been noted to have decreased growth and fat mass on their affected side.15
Conversely, children with a disability who are nonambulatory (i.e., a patient with a spinal cord injury or spina bifida) may have fewer caloric needs than their ambulatory peers and are at risk of obesity and the accompanying medial complications. Furthermore, obesity can also lead to a significant loss of function. Both muscle strength and body mass increase as a child grows. However, muscles are linear in function and increase in a ratio related to their cross-sectional areas.16 Body mass is a function of volume and will increase in cubic volume. Therefore, if a child has a medical condition that results in inherently weaker muscles such as cerebral palsy or spina bifida, changes in body weight, both normal and abnormal, ultimately may result in the loss of ambulation. Children with medical conditions such as Duchenne’s muscular dystrophy (DMD) provide a unique challenge to care providers. They are treated with corticosteroids, which improve functional outcomes but contribute to slow growth velocity and increased appetite and risk of obesity. Obesity can cause functional decline in these patients because it increases the work against already weak muscles.
Endocrinologic abnormalities are also quite common in children with disabilities. This can contribute to general nutrition problems as well as bone problems. Children with neural tube defects have a high incidence of early adrenarche and pubarche due to increases in dehydroepiandrosterone (DHEAS). However, these changes may not represent true central precocious puberty. Children who are born with brain malformations are more likely to have early puberty.17 Furthermore, if there is a midline structural brain abnormality, such children may be at risk for multiple pituitary abnormalities. Children who are very thin may have delayed puberty due to low fat stores and inadequate nutrition.18 Both of these instances play a role not only in bone mineral accrual but also in emotional and family interactions.18 Children who go into puberty later may also have later brain and emotional maturity.
Children with special health care needs are particularly vulnerable to poor bone health. Nonambulatory children are at risk and may acquire an insufficiency fracture during routine activities of daily living (ADLs), or ambulatory steroid-dependent children may present with back pain due to compression fracture.19 Multiple factors may play a role. As noted earlier in this chapter, many children with special needs are particularly vulnerable to poor nutrition. In addition to calcium and vitamin D deficiencies, other nutrients such as vitamins K, C, and A as well as magnesium and zinc are important in the maintenance of bone health. Vitamin D intake can also be affected in a child with disabilities due to low sun exposure secondary to less time outdoors or more clothing reducing skin exposure.20,21 Bone mineralization is also affected by the forces placed on the bone. A bone’s response to loading and the forces placed on it is known as “Wolff’s law,” which states that bone will adapt based on need and has the capacity to change shape and architecture based on the forces placed on it.22 Children who have limited mobility or are not ambulatory are at risk for impaired bone development because they do not place the same forces on bones that allow them to remodel and become stronger. In addition to steroids, medications such as proton pump inhibitors, selective serotonin reuptake inhibitors, tricyclic antidepressants23,24 and antiepileptic medications20 may also play a role in bone mineralization and low bone density.
Measuring and interpreting bone density are more difficult in children. Risk factors for children are not based solely on dual-energy x-ray absorptiometry (DXA), and the skeleton is constantly changing due to growth.22 Positioning during DXA scans may be difficult due to contractures, spasticity, movement disorders, or patient compliance. Furthermore, metallic hardware may also interfere with examination interpretation. In DXA scanning, the posteroanterior spine and the total body less head are the preferred skeletal sites to measure. The proximal femur in the growing child is less useful due to variability in skeletal development. Soft tissues measures may also be helpful if the child is at risk for musculoskeletal deficits or malnutrition.25
Children who have bone density Z-scores of fewer than 2 standard deviations from the mean are defined as having “low bone density for age.” In pediatrics, osteoporosis is not defined based on bone mineral density but usually requires an accompanying insufficiency fracture as well.26 The use of prophylactic medications for children with low bone mineral density for age remains a controversial topic in pediatrics. However, children who have had fractures are often treated with bisphosphonates. Despite being used as a treatment for osteogenesis imperfecta, bisphosphonates are off-label for pediatric patients.27,28 Traditionally, intravenous pamidronate has traditionally been used as a treatment for osteoporosis. Some practitioners have used oral alendronate as an alternative to avoid the inconvenience of visiting an infusion center for the administration of pamidronate. However, no pediatric protocols have ever been established for alendronate, and published protocols have varied from 1 mg/kg per week to 1 mg/kg per day.29 Side effects of these medications include flulike symptoms. Side effects of osteonecrosis of the jaw and atypical fractures of the femur have been reported in the adult literature. Children at risk or receiving treatment should have calcium and vitamin D levels monitored and supplemented if necessary. It is recommended that calcium supplementation for an infant be 250 mg/day and that a teenager receive 1,300 mg/day.30 Vitamin D should be supplemented for 25-hydroxyvitamin D levels less than 32 nmol/L. Typically, 1,000 IU bid for levels between 20 and 32 nmol/L and 2,000 IU bid for levels less than 20 nmol/L are recommended.31 Weight-bearing exercises should continue to be encouraged. Alternatively for 25 hydroxyvitamin D levels that are less than 20 ng/ L a 6–12-week course of high-dose vitamin D supplementation 50,000 IU given weekly can be considered.86
Visual and hearing impairments are also frequent in CHSCN. Children with cerebral palsy or traumatic brain injuries are at significant risk for cortical visual impairment. Children who require steroids for health maintenance such as children with cancer, juvenile rheumatoid arthritis, or muscular dystrophy are at risk for cataracts. Many children who have had complicated neonatal intensive care unit (NICU) stays requiring ototoxic antibiotics, involving meningitis or cytomegalovirus (CMV) infection, or have had traumatic brain injury are at risk for hearing impairments and must have appropriate health screening examinations.
Children with special health care needs are at risk for visual impairments from a variety of sources. Children who were born prematurely are at risk for retinal abnormalities that may ultimately affect vision or contribute to myopia. They are also at risk for gaze abnormalities such as strabismus.
Children who have CNS insults such as cerebral palsy, stroke, or traumatic brain injuries are at risk for cortical visual impairment. Children with cerebral palsy, intraventricular bleed, or a anoxic events are also at risk for optic nerve hypoplasia or visual field cuts related to their neurologic insults at birth and require frequent evaluations by an ophthalmologist.32 Certain medical conditions may be associated with visual impairments; for example, children with Marfan’s syndrome are at risk for a dislocated lens. Children who receive chronic steroids, such as children with rheumatologic diseases, organ transplants, and Duchenne’s muscular dystrophy are at risk for cataracts.
In children with disabilities it is important to be aware of the potential for visual impairment and address these concerns early in life. Early clinical examination may consist of pupillary and red reflex examination and ocular alignment and inspection. As early as 3 months of age children are capable of tracking a moving object. After the age of 3 years, children should be tested for visual acuity. It is crucial that the providers who take care of children with special needs continue to ensure that these children follow up with pediatric ophthalmologists.
Hearing problems may also be extremely prevalent in children with neurologic abnormalities. It is estimated that approximately 30% to 40% of children with cerebral palsy may have hearing abnormalities.33 Clinical examination findings associated with potential hearing loss include hypertelorism, abnormal eye pigmentation, malformation of the auricle, cleft lip or palate, microcephaly, and hypoplasia of the face.34 On clinical history, hearing abnormalities may be associated with CMV infection, kernicterus, low birth weight, hypoxic-ischemic injury, and ototoxic antibiotics. Children who have received extracorporeal membrane oxygenation (ECMO) or have had prolonged artificial respiration are also at risk. Children who have had chronic ear infections are also at increased risk for a conductive hearing loss. Children who have had traumatic brain injuries are at risk for both conductive and sensorineural hearing loss.
Children who are at increased risk or have demonstrated signs of communication delays should have their hearing screened. Hearing is important in the acquisition of developmental and language skills and must be monitored in children who are at increased risk. The Brainstem Auditory Evoked Response (BAER) test and otoacoustic emission (OAE) test are available in the newborn screening period. Conventional screening audiometry is typically used in children that are able to communicate and greater than age 4. Children who are unable to communicate or who have a diagnosed hearing defect may require screening with an auditory brainstorm response (ABR). Every child with one or more risk factors should have ongoing developmentally appropriate hearing screening and at least one diagnostic audiology assessment by approximately 24 to 30 months of age.34
As a general rule, most children with disabilities require traditional routine administration of immunizations in accordance with the schedule published by the Centers for Disease Control and Prevention (CDC). Children with special health care needs have similar rates of immunization in comparison with the population of unaffected children.35
Special considerations are often given to children who are immunocompromised. Children with primary inherited disorders of the immune system are unable to receive live vaccines. This typically includes live influenza, measles-mumps-rubella (MMR), varicella, oral polio, and rotavirus vaccines. Children with human immune-deficiency virus (HIV) infection may receive live vaccines if they are not severely immunocompromised. Children who are going to receive immunosuppression or radiation for an organ transplant or treatment of cancer will receive their vaccines prior to undergoing treatment.36 Children with Duchenne’s muscular dystrophy may also be considered as immunosuppressed due to chronic corticosteroid usage. Children taking more than 20 mg/day for more than 10 days are at risk for immunosuppression.37
Children with certain chronic systemic diseases such as cardiorespiratory disease, renal disorders, metabolic abnormalities, cystic fibrosis, and diabetes mellitus are at increased risk of complications of influenza, varicella, and pneumococcal infection. Studies have demonstrated that roughly 50% of children with neurologic disorders are vaccinated for influenza.38 Although this is comparable to that of healthy children, the immunocompromised population has an increased risk for infection-related morbidity and mortality. Children with neurologic disorders are at five to seven times greater risk of being hospitalized for a respiratory infection as their aged-matched peers.39 During the influenza pandemic of 2009, 64% of the children who died had a neurodevelopmental disorder, with cerebral palsy or intellectual disability being the most common.40 Children with neuromuscular weakness may be at higher risk for upper respiratory infections. This includes patients with tracheostomies, muscular dystrophies, spinal cord injuries and cerebral palsy.
Children with seizure disorders are not restricted from receiving immunizations; however, some vaccines do demonstrate a risk in febrile illnesses that may exacerbate seizures. Since pertussis immunizations are given during infancy, the vaccine administration may lead to recognition of a preexisting seizure disorder, which may cause some confusion regarding the immunization. In the case of pertussis immunization during infancy, vaccine administration could coincide with or hasten the recognition of a disorder associated with seizures, such as infantile spasms or severe myoclonic epilepsy of infancy, which could cause confusion about the role of pertussis immunization. Hence, pertussis immunization in infants with a history of recent seizures generally should be deferred until a progressive neurologic disorder is excluded or the cause of the earlier seizure has been determined. In addition, children with seizure disorders are often given the MMR and varicella immunizations as separate immunizations as opposed to the combination vaccine.36
Therapy services for infants and toddlers were initiated in the United States as part of the Education of the Handicapped Act Amendments of 1986. The goal was to initiate free family-centered care services for children from birth to 3 years of age. This law has since been authorized and amended as Part C of the Individuals with Disability Education Act Amendment of 1997 and the Individuals with Disabilities Education Improvement Act of 2004. Often this legislation is referred to as Part C or Early Intervention and is a federal program administered by state governments. The goal of this legislation is to enhance the development of infants and toddlers with disabilities, reduce educational costs, maximize independent living, enhance the capacity of families to meet the needs of children with special needs, and enhance the capacities of state and local governments to identify and provide services for all children regardless of socioeconomic status. Early intervention services included in Part C include
Family training, counseling, and home visits
Special instructions
Speech-language pathology and audiology services
Occupational therapy
Physical therapy
Psychological services
Service coordination
Social work
Vision services
Assistive technology and services
Transportation and related costs necessary to receive early intervention services
Developmental delay for infants and toddlers is categorized as physical, cognitive, communication, social/emotional, and adaptive. However, states retain the ability to define the eligibility criteria to receive services.
Although therapy services existed within the educational system for children with disabilities, the first major legislative initiative to provide therapy services to children within the school system was the Education of the Handicapped Children Act of 1975. It was this law that helped advocate for children with disabilities to have appropriate and free education within the public school system. The most significant amendment was in 2004 with the Individuals with Disabilities Education Improvement Act, which has the goal “to ensure that all children with disabilities have available to them a free and appropriate public education that emphasizes special education and related services designed to meet the unique needs and prepare them for further education, employment, and independent living” (Individuals with Disabilities Act, 34 CFR §300.550, 2004). This act provides a mechanism to enhance parental involvement and promote accountability. It also requires goal measurement and strategies. The objective is to create the least restrictive environment for such a child by using a collaborative team model approach. Local educational agencies are federally mandated to provide such children with special needs access to therapy that will assist in their access to special education or the general education curriculum. However, the therapy that is provided must be related to the child’s academic and functional needs.
Psychology and neuropsychology services, along with social work, are the final link to traditional formalized programs addressing recovery from or adjustment to physical, functional, or emotional disability. They allow patient-centered testing and supportive intervention for the identification of strengths and deficits. They also are a conduit to managing the larger family stress and dynamics that come with a child who has acquired or congenital functional deficits. Their interventions are also important in less severely injured children, such as those with concussion, for diagnosis and treatment for appropriate return to school and play.
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