Evaluation of the Developmentally or Physically Disabled Patient

Terry A. Adirim and Elizabeth D. Rosenman

Perspective

Children and adolescents who are developmentally or physically disabled, have chronic illnesses, or are technology dependent for mobility or survival have special health care needs. The following definition of children with special health care needs (CSHCN) has become widely accepted within the pediatric community:

Children with special health care needs are 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 beyond that required by children generally.¹

The prevalence and characteristics of the CSHCN community depend on the definition used. With use of the federal definition derived by the Maternal and Child Health Bureau of 1998, a study analyzing data from 2006 to 2008 found that approximately one in six children in the United States experienced a special health care need.² There is a higher prevalence among older children, boys, and non-Hispanic white and black children, and after adjustment for demographic factors, families in poverty are more likely to have CSHCN.

Advances in medical science and technology have been instrumental in allowing children with complex medical problems to survive beyond the neonatal period. Moreover, family-centered care has been the goal for the care of these children, and as a result, many are living at home instead of in institutions.³ CSHCN are frequent users of the emergency medical system. Emergency medical services are typically activated during the time of a crisis. This crisis may occur because of equipment failure or panic by the caregiver who is fatigued or new to caring for the child with special needs. However, a survey of 100 families with CSHCN conducted at a tertiary care urban pediatric center demonstrated that although 97% of the families had sought emergency care in the past, only 23% of the caregivers had ever called 911 before, and 93% had driven their child to the hospital during an emergency.⁴ Families may transport their children either to the nearest community hospital or to their “home” institution, which is likely to be a tertiary care center. Most emergency medical service jurisdictions transport to the nearest “appropriate” medical facility.

Children (and youth) with special health care needs are usually cared for by adults who have been trained to manage their child’s daily care. In general, families are knowledgeable about their child’s medical conditions and technologic needs. Families may have detailed medical plans that specify such things as the size of tubes, how often to change tubes, dosages of medications, and ventilator settings. One example of a program that provides information to medical care providers is the Emergency Preparedness for Children with Special Health Care Needs program of the American Academy of Pediatrics and the American College of Emergency Physicians.⁵ This emergency notification program’s purpose is to communicate specific information to medical caregivers about the conditions and medications of a child or adolescent with special needs. An emergency information form is completed by the child’s primary care physician or family and is carried with the child. Although most caregivers are adept at handling many of their children’s emergencies, caregivers seek help for a variety of reasons, including the need for respite, equipment malfunction, an overwhelming medical problem, or help with transport to the child’s home hospital.

In contrast to the pediatric population, there is no universally recognized definition for adults with special health care needs. The Institute of Medicine (IOM) has used several different definitions for disability, including an “inability or limitation in performing socially defined activity and roles expected of individuals within a social and physical environment.”⁶ The number of adults who meet this broad definition is difficult to calculate. Current estimates indicate that as many as 50 million U.S. residents have some type of disability.⁷ Estimates come from various national surveys that vary in their definitions, questions, and target populations. Even more importantly, of 18 different national surveys reviewed by the IOM Committee on Disability in America, only four include institutionalized individuals.⁷ Given the large number of surveillance groups, the IOM has recommended adoption of the World Health Organization’s International Classification of Functioning, Disability and Health, which is currently being used in many countries as a standardized assessment tool for both individuals and populations.

Regardless of the definition used, patients with disabilities will have a wide spectrum of health care needs. Many individuals with mild disabilities are able to manage their medical needs independently or with minimal assistance from a primary health care provider, whereas others require frequent and even continuous interactions with the health care system. An individual’s needs will probably change over time as well. Many of the childhood conditions that are associated with special health care needs, such as cerebral palsy, will persist into adulthood. The relative incidence of traumatic injury is highest among adolescents and young adults, making traumatic brain and spinal cord injuries a significant contributor to both physical and cognitive disability. In the aging population, vascular disease becomes more common, including cerebrovascular accidents and amputations secondary to peripheral vascular disease and diabetes. Finally, dementia, movement disorders, and general deconditioning are prevalent among the elderly population.

Distinguishing Principles of Disease

General Issues for Children and Youth with Special Health Care Needs

CSHCN differ from other children in a variety of ways. Some CSHCN may be neurologically impaired and therefore have intellectual disabilities. Their physical growth may be limited, resulting in stature smaller than that of other children of the same age. As a result, medical personnel cannot rely on age- and weight-based norms and should either ask caregivers for this information or use length-based tapes to estimate weight, to calculate drug dosages, and to determine fluid management. Children and adolescents with chronic health conditions may have vital signs that differ from those expected for children without chronic conditions of the same age.⁴ For example, baseline vital signs are altered in children with cardiac conditions or who are on mechanical ventilators. A child with an unrepaired complex congenital heart defect may have a baseline pulse oximetry reading in the low 80s. Some children with lung diseases may have respiratory rates higher than expected, yet these higher respiratory rates are considered their baseline.⁴ Also, some children may have sensorineural deficits, such as blindness and deafness, that may make history taking and physical assessment challenging. Medical care providers need to be cognizant of these differences.

Care should be taken when children with physical or cognitive disabilities are treated and moved as they may become frightened easily with quick motions and unfamiliar sights and sounds. Use of a calming tone while speaking at a developmental level the child can comprehend can decrease anxiety and most likely increase cooperation. Allowing parents to be at the bedside is vital for all children but most especially for these children. Moving of children with musculoskeletal disorders can best be accomplished with slow, deliberate motions so as not to frighten the child. The child’s caregivers are the best resource in determining the most appropriate methods for communicating with or moving a child with special needs.

General Issues for Adults with Special Health Care Needs

Adults who have suffered a neurologic insult, whether it is congenital, traumatic, or medical, may have communication limitations ranging from mild to severe. A wealth of information may be provided by contacting the nursing facility from which a patient was transferred or calling a family member at home. Equally important is identification of any special communication devices, such as a Passy-Muir (speaking) valve or a writing board, that will facilitate the history-taking process and empower the patient.

Weakness, paralysis, pain, and spasticity can contribute to impaired mobility and make the physical examination challenging. Patients may be reluctant or unable to get out of their wheelchair or to get undressed. This can be a time-consuming and frustrating process in a busy emergency department (ED). Enlistment of help from ancillary staff can expedite this process and ensure the patient’s safety.

Patients with special health care needs often have indwelling catheters and implanted devices. It is important to ask about these as complications are not infrequent. Catheters can fall out or become clogged, and implanted devices can malfunction or migrate. Furthermore, anywhere there is a foreign body, there is increased risk of infection.

For all patients and especially those with impaired communication, limited mobility, or indwelling or implanted devices, it is crucial to perform a meticulous physical examination. A patient with a fever and cloudy urine may also have a rectal abscess or erythema around a dialysis catheter that could easily be overlooked if a thorough physical examination is not routinely performed.

Specific Disorders

Airway and Pulmonary Conditions

Tracheomalacia

Tracheomalacia is a condition of abnormally weak tracheal walls due to the loss of supporting cartilage and structural integrity. This frequently causes collapse of the trachea on inspiration. Tracheal collapse is most prominent during times of increased airflow, such as when the infant is coughing, crying, or feeding or has an upper respiratory infection.

There are three causes of tracheomalacia: congenital or intrinsic tracheal anomaly (occurring within the trachea), which may be associated with a tracheoesophageal fistula (a patent connection between the trachea and esophagus); extrinsic defects (occurring outside the trachea), such as abnormal development of the vasculature around the trachea that may create a ring, which places pressure on the trachea and interferes with airflow; and acquired malacia, which occurs in children with prolonged intubation or chronic tracheal infections.⁸

Medical management for tracheomalacia consists of symptomatic treatment. A child may experience respiratory compromise with simple viral infections. Racemic epinephrine may decrease swelling of the upper airway under these circumstances. It is prudent to observe these children in the hospital until they are no longer compromised. For children with severe tracheomalacia, a stent or rigid piece of cartilage may be surgically placed in the collapsed area of the trachea to establish permanent patency. Infants with vascular rings have varying degrees of tracheal compromise. Treatment of constricting vessels consists of surgical division and reattachment to surrounding structures to release the pressure on the trachea. In rare instances, tracheostomies are placed to provide a patent airway until the child’s airway grows and strengthens. Fortunately, most infants with tracheomalacia require no specific treatment, and over time the airway grows and the condition improves.

Regardless of the underlying cause, infants and children with tracheomalacia who are in respiratory distress present with similar signs and symptoms. These include cough, prolonged expiratory phase, stridor, accessory muscle use, and hypoxia.

Bronchopulmonary Dysplasia

Bronchopulmonary dysplasia (BPD), a chronic lung disease occurring in infants, is characterized by poor lung compliance and chronic exacerbations. BPD is a worldwide problem, with 5000 to 10,000 new cases reported each year. BPD, cystic fibrosis, and asthma are the three most common chronic lung diseases in infants.⁹

BPD develops primarily in low-birth-weight infants who have respiratory distress syndrome. Babies born before 32 weeks’ gestation may not have enough surfactant to keep their alveoli open.¹⁰ However, BPD development is not limited to survivors of respiratory distress syndrome. BPD may result from alveolar damage caused by other lung diseases, exposure to prolonged high oxygen concentrations, use of mechanical ventilation after birth because of conditions such as neonatal pulmonary hypertension and pneumonia or other infections, or trauma to the lungs.¹⁰

A combination of fewer air sacs and a lack of surfactant can result in abnormally stiff lungs. This increases the work of breathing for affected infants, who can quickly become fatigued. Respiratory infections can also worsen the inflammatory response in the lungs, leading to more fluid in the lungs and bronchospasm. Signs and symptoms of BPD can vary in severity by the infant’s lung maturity. They may include tachypnea, retractions, paradoxical respirations, abnormal posturing, and wheezing.

BPD causes the most difficulties during the first year of life, which is when most deaths from this disorder occur. The most common long-term lung complication of BPD is asthma, which occurs in approximately half of patients. Other less common complications include apnea during infancy, gastroesophageal reflux, pulmonary hypertension, high blood pressure, pulmonary edema, aspiration, subglottic stenosis, and tracheomalacia. Infants who have BPD are at risk for frequent hospitalizations because of their borderline respiratory reserve, hyperactive airway, and increased susceptibility to respiratory infection.

Treatment of BPD involves symptomatic relief. Home management may include oxygen, bronchodilators, corticosteroids, diuretics, antibiotics, and, in rare cases, ventilator support through a tracheostomy.

Apnea

Apnea in infants and young children is defined as a cessation in breathing for more than 20 seconds or associated with a change in color, limpness, altered mental status, or bradycardia. Apnea occurs more frequently in infants born prematurely and generally reflects immature neurologic and respiratory control mechanisms.¹¹ These pauses in respiration may be due to central apnea, which is the result of an absence of a neurologic signal to the respiratory muscles. Underlying causes include encephalitis, brainstem infarction or tumor, neuromuscular disorders such as muscular dystrophy, and thoracic restrictive disorders such as kyphoscoliosis. These children are discharged home from the hospital on an apnea monitor. Apnea monitor alarms often result in ED visits. The apnea monitor should be transported with the child to the hospital. Most monitors contain a computer chip that records information that can be downloaded into a computer at the child’s regular hospital (home hospital) to determine the origin of the monitor alarms (high or low heart rate, apnea, or artifact).

The most common type of childhood apnea is obstructive apnea, which is caused by an occlusion in the upper airway at the oropharyngeal level or by gastroesophageal reflux disease. Gastroesophageal reflux disease occurs when the lower esophageal sphincter opens, causing stomach contents to pass into the esophagus during or after a meal. Younger children tend to outgrow this condition. Those who continue to be symptomatic can experience complications such as a chronic cough, recurrent pneumonia, difficulty in swallowing, recurrent vomiting, and weight loss. Symptoms can often be controlled with positioning, diet, medications, and, in rare circumstances, surgery.

Mixed apnea is central apnea that is followed by an obstructive apnea event. Obstructive sleep apnea may be managed by providing oxygen during sleep or through continuous positive airway pressure (CPAP), which may be delivered through a nose mask or tracheostomy. Central apnea is managed with supplemental oxygen and CPAP but also responds to medications that stimulate the respiratory system or mechanical ventilation.

Apnea in adults is most frequently related to obstructive sleep apnea. This can be due to altered oropharyngeal anatomy but is most commonly secondary to obesity. Decreased muscle tone during sleep leads to obstruction of the pharynx and hypopharynx with redundant tissue. Central sleep apnea is also seen in patients with heart failure. Regardless of etiology, sleep apnea can result in mild to severe sleep disturbances leading to daytime somnolence and irritability. It is also associated with significant morbidity and mortality, including heart failure, acute coronary syndrome, cerebrovascular accidents, and death.12–15 Like pediatric obstructive apnea, obstructive sleep apnea in adults is treated with noninvasive positive-pressure ventilation, such as CPAP, during sleep.

Chronic Respiratory Failure in Adults

A wide range of disorders can lead to chronic respiratory failure in adults. These can be divided into three broad categories: intrinsic lung disease, central nervous system disease, and neuromuscular disorders. One of the most common causes of lung disease and chronic respiratory failure in adults is chronic obstructive pulmonary disease (COPD), which is usually due to long-term tobacco exposure. A patient with mild COPD may be managed with inhaled bronchodilators and anticholinergics. With disease progression, patients may require supplemental oxygen at home and may have substantial disability secondary to exertional dyspnea. In the evaluation of a patient with COPD, it is important to ask about home oxygen requirements and baseline oxygen saturation.

Patients with COPD may present in respiratory distress secondary to an exacerbation of their underlying disease. COPD is an obstructive process; people with severe disease will often have elevated carbon dioxide levels at baseline (carbon dioxide retainers), and respiratory drive is often dependent on arterial oxygen concentrations rather than on carbon dioxide concentrations. Attempting to correct oxygen saturation to 100% can decrease the patient’s inherent respiratory drive and result in further carbon dioxide retention and altered mental status secondary to hypercarbia (carbon dioxide narcosis). Other common reasons for ED visits include bronchitis and pneumonia. Finally, patients may run out of their oxygen or have an equipment malfunction. A social worker, if available, can assist in coordinating replacement of supplies and ensuring that the patient has a reliable source for home oxygen.

Other less common causes of lung disease include bronchiectasis, sarcoidosis, fibrosis, α₁-antitrypsin deficiency, and pulmonary hypertension. These all have specific management issues, and it is helpful to involve the patient’s pulmonologist whenever possible. Individuals with chronic lung disease, regardless of the etiology, may have significant functional limitations related to dyspnea and deconditioning. In an otherwise well-appearing patient, ambulation can reveal hypoxia and dyspnea that may be missed on initial evaluation.

Central nervous system disorders can result in respiratory failure secondary to impaired or absent neurologic control or respiratory muscle weakness or paralysis. The initiation and coordination of respiratory effort is complex and involves multiple areas within the brainstem. Brainstem lesions can result in central apnea or asynchronous respiratory efforts and generally require tracheostomy and mechanical ventilation. The diaphragm is innervated by C3-5 and the intercostal muscles are innervated by T1-7, so cervical and thoracic cord lesions can result in respiratory muscle weakness. The severity of weakness depends on the level and nature of the lesion, with higher and more complete lesions causing more severe impairment. Examples of spinal cord lesions include traumatic cord injuries; compressive lesions, such as spinal cord hematomas and abscesses; and intrinsic cord disease, such as transverse myelitis.

Myasthenia gravis is a neuromuscular disorder that can cause respiratory insufficiency and failure. Myasthenia gravis is an autoimmune process that attacks the postsynaptic acetylcholine receptors at the neuromuscular junction. It most commonly affects the bulbar muscles but can also result in generalized weakness.¹⁶ Other neuromuscular disorders that can affect the respiratory muscles include muscular dystrophy, multiple sclerosis, and amyotrophic lateral sclerosis. In any patient with respiratory muscle weakness secondary to a neuromuscular disease, pulmonary function tests are an important component of the assessment. One test that can rapidly be obtained in the ED is a negative inspiratory force or maximal inspiratory pressure. A value of less than 20 cm H₂O is the generally accepted cutoff for severe impairment and can help determine which patients need ventilatory support. This test is usually performed by a respiratory therapist with use of a pressure gauge connected to a disposable mouthpiece.

Finally, there are a few conditions that do not fall into any of the prior categories but that can cause respiratory insufficiency and hypoventilatory respiratory failure by restricted chest wall expansion. Examples are severe scleroderma and morbid obesity.

For all causes of chronic respiratory insufficiency, affected individuals will fatigue more rapidly when they are faced with any new pulmonary insult and may rapidly progress to respiratory failure. Any of these disease processes may require tracheostomy and mechanical ventilation because of either baseline respiratory insufficiency or the frequency of exacerbations leading to respiratory failure.

Tracheostomy Tubes

Tracheostomy tubes are placed to facilitate mechanical ventilation, to provide a bypass of the upper airway, or to keep the airways clear of secretions. The more common conditions for which tracheostomy tubes are placed include tracheal stenosis, tracheomalacia, certain craniofacial anomalies, BPD, muscular dystrophy, spinal cord injury or disease, traumatic or anoxic brain injury, and cerebrovascular accidents.⁸

Because the tubes are available from several manufacturers, their sizing and markings vary. Common brands are Shiley, Bivona, Hollinger, Portex, and Bardeen. Typically, the sizes are marked on the packaging and on the flange, or wings, of each tube. They range in size from 00 for newborns to 7.0 for older adolescents and adults. The inner and outer diameter ranges are provided so that comparisons between brands can be made. They range from 2.5 mm for infants to 10.0 mm for adolescents and adults. This information is helpful for emergency personnel in replacing a tracheostomy tube or in choosing an endotracheal tube for oral intubation or use through a stoma. The inner diameter of a tracheostomy tube should be used to choose the endotracheal tube size for insertion through a stoma. Tracheostomy tubes also come in various lengths. Neonatal tubes are shorter than pediatric tubes, although the inner diameters may be the same.⁸

There are several types of tracheostomy tubes and attachments: single-cannula tubes (Fig. 187-1), double-cannula tubes (Fig. 187-2), cuffed tubes (Fig. 187-3), and fenestrated tubes (Fig. 187-4).⁸ Neonates, infants, and young children use single-cannula tracheostomy tubes. A double-cannula tube can be used in older children and adults. It contains an outer tube that stays in the stoma and an inner tube that is removable for cleaning and pulmonary toilet. Tracheostomy tubes for older children and adults have an inflatable cuff to keep the tube in place and to prevent air leaks. Fenestrated tubes have a hole in the cephalic portion of the tube that redirects air into the upper airway to allow the individual to speak and to breathe through the nose and mouth. This is facilitated by a decannulation plug that is attached to the opening of the tube.