Identifying Functional Deficits in Persons Living with Developmental Disability: Examples with Cerebral Palsy or Spina Bifida
Adults with developmental disabilities are becoming more commonplace in society, particularly those who have lived with a disability their entire lives. Survival rates have vastly improved for children with chronic disabilities affecting physical function, such as cerebral palsy (CP)1 and spina bifida (SB).2 Current predictions suggest that many individuals with developmental disabilities will live into adulthood and age much like the general population; however, little is known about the natural history of these disorders over the lifespan.1 Since they are surviving longer, it is expected that many will require the services of a geriatrician and, in fact, the clinical practitioner may be the first link to healthcare these individuals experience as aging adults. It is important that clinicians become increasingly knowledgeable about the unique needs of this population, and become efficient in their evaluation and management.
Performing a comprehensive screen for function and mobility could provide valuable information to the clinician and result in early recognition of mobility and functional deficits. Often, the presenting complaint is the focus of evaluations; however, questions about overall function and mobility of the individual over time may be overlooked, and the long-term effects of chronic disability may be missed. Additionally, patients may not report these changes that have taken place over time because they either assume that decreases in mobility and function are a “normal” part of aging, or they may not recognize the mobility and functional changes because they have taken place slowly over a long period of time.
Moreover, the patient who lives daily with a chronic disability may not know to report changes that have occurred slowly over time. They in fact may assume that decreased function is to be expected with their developmental disability. Addressing these issues early may prevent secondary conditions that lead to mobility or functional changes. The clinical practitioner who is knowledgeable about the factors and systems that are commonly affected by these chronic disabilities and the secondary changes that occur over time will be able to address dysfunction early and minimize or prevent some of the secondary effects that can occur. Early detection and treatment may also decrease overall healthcare costs, as deficits and complications can be costly.
Pertinent information concerning the developmental disability may be specific to that particular disability and can reveal some clue as to further expectations. For example, in individuals diagnosed with CP, the specific type is important to note (spastic or athetoid, hemiplegic or quadriplegic).3 In SB, the spinal level of the lesion (usually thoracolumbar), history of hydrocephalus, or history of seizures is pertinent.3
Multiple factors are noted in the literature that can affect adults with CP and SB, and include mobility and functional independence, complications in multiple systems, previous surgical procedures, and referral for rehabilitation services (Table I).1,4,5
Multiple Systems Factors
According to the Centers for Disease Control and Prevention, a secondary disability is a health condition that is causally related to a primary disability; however, these are, at least to some degree, preventable and are not always a part of the natural history of the primary disability.6 Because the impaired musculoskeletal system is at risk for developing secondary health conditions that affect function and quality of life in these adults, it is important to understand which of these secondary conditions occur and how they occur. Additionally, it must be realized that secondary conditions in other systems such as neurologic, genitourinary, gastrointestinal, integumentary, nutritional, and cardiorespiratory have an effect on how the musculoskeletal system is able to function.
Individuals with a chronic disability such as CP or SB commonly have primary or secondary deficits in multiple systems that include musculoskeletal, neurologic, cardiorespiratory, gastrointestinal, nutritional, genitourinary, and integumentary1,4,5,7,8 (Table II).
Deficits in the musculoskeletal system can lead to osteoporosis, contractures, weakness, leg length discrepancy, and postural defects such as scoliosis or kyphosis, joint degeneration, Charcot’s joint, or falls. Neurologic deficits may include abnormal reflexes, hypertonicity, hypotonicity, nerve entrapment, peripheral nerve injury, visual problems, hearing difficulty, decreased sensation, seizures, or stroke. Cardiorespiratory problems include hypertension, myocardial infarction, congestive heart failure, peripheral vascular disease, pneumonia, and emphysema. Genitourinary incontinence or retention may occur, along with urinary tract infections, renal damage, dialysis, bowel incontinence, or constipation. Obesity may occur with decreased daily activity, especially if there is not an ongoing nutritional and fitness program in adult years. When swallowing difficulties and dysarthria are present, malnutrition may occur and result in the need for a feeding tube. Pressure sores may be present from immobility and sensory deficits, and may also result in burns or trauma to the integument.
Mobility and Function
Mobility has been noted as one of the key elements to successful function in society when living with a developmental disability, and it can affect quality of life for these individuals. Since the musculoskeletal system is vital to mobility, it is important to understand the changes that occur in adults with CP and SB that affect function. Mobility and physical function have been linked in the literature to improved independence, employability, and survival rates, and are directly affected by the combined function of the musculoskeletal system, neurologic system, and cognition of the individual.9
Mobility has been targeted as one of the key determinants related to quality of life in persons with developmental disabilities, with the ability to walk noted as a pivotal element.10 Fatigue due to poor physical fitness in this group may lead to the inability to perform locomotion and activities vital to daily living. Overuse syndrome may occur as the result of the disability. Daily use of crutches, walkers, or wheelchairs in individuals with adult weight or size puts undue stress on upper extremities and may result in joint problems in the shoulder or nerve entrapment in the wrist or elbow. As adults, mobility status may change.
Rauen and Aubert11 noted that ambulation may be abandoned by adults who were ambulatory as children, and that a decreased ability to walk over time has been associated with contractures and flexion deformity at the hip. Stauffer et al9 studied persons with CP and SB over 13 years of age and found that 50% were not ambulators and 50% of the ambulators stopped this activity by age 20.
McDonnell and McCann,12 in a retrospective study of persons with SB, found that 35% in their population were independent ambulators, 8% used an assistive device, and 36% used wheelchairs. Strauss and Shavelle13 indicated that those persons with low functioning such as decreased mobility and decreased feeding abilities had a poorer life expectancy. Contractures, osteoporosis fractures, spinal deformities, and pressure ulcers may also limit mobility. An increase in body weight with maturity coupled with inactivity may have a negative effect on mobility and result in obesity.1
An individual’s mobility should be screened with information about independence or assistance required by such things as assistive devices (crutches, cane, walker) or whether a wheelchair is necessary (manual or motorized). Any changes that have occurred in mobility can be a warning sign warranting attention, particularly if they are recent. For example, an individual with CP or SB may be hospitalized for severe infection or surgery and be on bed rest for 1-2 weeks. Upon returning home, this individual may find himself unable to walk after hospitalization due to weakness and decreased range of motion and endurance. Without appropriate rehabilitation services, this individual may continue to be unable to walk and assume that his mode of mobility will now be via wheelchair. When he returns for a visit to his geriatrics practitioner, without appropriate screening for mobility, the individual may continue to use a wheelchair and never return to his earlier level of ambulation, thus affecting quality of life.
In addition to mobility, an individual’s ability to manage self-care and everyday skills are important functional factors. Activities of daily living (ADLs) and instrumental activities of daily living (IADLs) should be screened for, again noting any recent changes in these skills. Changes in ADLs and IADLs affect overall function, independence, living situations, and employment.9,14
Screening for mobility and function may allow the clinical practitioners to detect changes early in order to prevent or limit deficits. By screening for key elements that need to be addressed, mobility and function can be determined. Areas that need to be addressed are locomotion, functional activities, musculoskeletal system defects, neurologic changes, and surgeries.
Coding the developmental disability appropriately assists in readily identifying these individuals. The International Classification of Diseases (ICD)-9 code for CP is 343 and for SB is 741.15 Identification of common functional impairments is also helpful in their treatment. The ICD-9 codes for some of the physical problems that lead to functional impairment are noted in Table III.
Common deficits in CP that lead to functional problems are decreases in mobility, motor control, coordination, or sensation, along with spasticity.3 Common deficits leading to functional difficulty in SB include a decreased mobility, loss of movement and sensation below the level of the lesion, musculoskeletal deformities, including clubfeet and scoliosis, visual impairments, and cognitive impairments.3
After screening persons with these disabilities, the geriatrics practitioner will be able to determine whether the individual has experienced significant changes in function or mobility status. Referral for rehabilitation services may be necessary for these persons to regain optimal levels of function. Physical therapy and occupational therapy can address locomotion and ADLs, including recommendations for orthoses, assistive devices, and wheelchairs. If swallowing or communication deficits are noted, then a specialist in communication disorders may need to be contacted. If nutrition is a concern, then referral to a registered dietitian may be necessary. Social services could assist in community resources, funding sources, and equipment needs.
Geriatrics practitioners may be the first link to medical care for adults with CP or SB. Special attention should be focused on the fact that these individuals have lived a lifetime with chronic disability. Performing a comprehensive screen for function and mobility could provide valuable information to the clinician and result in early recognition of mobility and functional deficits. Addressing issues early may prevent secondary conditions that lead to changes, and result in improved function and/or mobility for the individual while decreasing medical costs. Healthcare professionals should conceptualize CP and SB not as childhood diseases but as chronic lifelong disabilities in order to provide optimal independence and quality of life for individuals throughout the lifespan.
The author reports no relevant financial relationships.