|
Community Health Care for Adults and Elders with Developmental Disabilities Research and Training A Project of the University Center for Excellence in
Developmental Disabilities (UCEDD)
funded by the Washington State Developmental Disabilities Council (DDC) |
COMMUNITY HEALTH CARE FOR ADULTS WITH DEVELOPMENTAL DISABILITIES
Presentation Syllabus for the Washington State Academy of Physician Assistants
Winter Conference and Re-Certification Review Course
January 27th through January 31st, 2001
By
Doug Cook, Ph.D.; Dale Sanderson, P.A.-C.; Gail Wolfson, Parent,; and Nuhad Dinno, M.D.
Adults with developmental disabilities and their families are increasingly seeking health care from community medical providers. This presentation is designed to provide an introduction to critical aspects of providing adequate health care to this population of patients. The material covered includes the following: the Washington State definition of developmental disabilities and national and state demographics, communication issues, etiology of the various conditions labeled developmental disabilities, and challenges to health care professionals in diagnosis and management.
A person with developmental disabilities is defined under Washington State law as a person who has at least one of the following conditions:
1. Mental retardation
2. Cerebral Palsy
3. Epilepsy
4. Autism
5. Another neurological condition similar to mental retardation.
The disability must occur before age 18, must be expected to continue indefinitely, and must result in a substantial impairment.
Based on this definition, it is estimated that 2-3% of the total United States population has a developmental disability. This number is increasing nationally as well as in Washington State. In the United States, the population estimate has increased from 5 million in 1990 to 5 1/2 million in 1999. In Washington State, the numbers have increased from 97 thousand in 1990 to 115 thousand in the year 2000. In addition, the population of individuals with developmental disabilities is aging. For example, the mean age at death for persons with mental retardation was 19 years in the 1930s, 59 years in the 1970s and 66 years in 1993.
State services to Washington citizens with developmental disabilities are provided by the Division of Developmental Disabilities (DDD). The number of clients served in 1990 was 14,879; ten years later the caseload had increased to 28,303. In terms of individuals between the ages of birth and 21, there has been an explosion of children with developmental disabilities identified by the state of Washington—in 1990, DDD identified 5,994 children and ten years later in 2000, the caseload was 16,187 children.
There have been enormous changes in the last 30 years in terms of where individuals with developmental disabilities live. Currently, the majority of individuals with developmental disabilities live in the community. Community housing includes family and individual residences, group homes, and intermediate care facilities for the mentally retarded. When we look at the various residential placements in the community, the numbers have gone from 13,000 in 1990 to over 27,000 in the year 2000 and the institutional placements have dropped from 2,500 in 1977 to 1,190 in 2000.
In terms of the total population estimate of 115,000 individuals with developmental disabilities in Washington State, of those identified by DDD, only 1% live in institutions currently and 24% live in the community. However, it is estimated that there are more than 86,000 individuals (or 75% of the total state developmental disabilities population) that are unknown to DDD.
When an adult with cognitive disabilities is seeking a new health care provider it is very useful to have the first contact be a visit to introduce the doctor and staff and get to know the layout of the office. It is also useful to ask the person who comes with the adult to send in written information about the patient prior to the first exam. Asking about the best times for the person to be scheduled can also help the practitioner have an easier time.
Parents and providers want to know all the information that you have. Giving full information is also one of the ways that families, providers and practitioners establish rapport and gain mutual trust over time. The other part of the equation is that you have to take the parent or provider’s input very seriously.
A t some point in the exam you will need to “move beyond the disability.” You need to look at the generic issues for an adult of a certain age and history and address those issues. Doing all of this is going to take a little more time with the exam. Fortunately, if this is handled well initially, exams will become more routine as you learn to work with the adult.
In conducting a medical evaluation of an individual with a developmental disability, health care providers must be cognizant of the importance of a thorough medical history that includes behavioral, developmental and educational histories. Another important component of the evaluation is a thorough family history. This is especially important in conditions such as cerebral palsy, mental retardation, epilepsy, hearing or visual impairment, autism, ADHD, LD, and birth defects.
The physical exam should look at dysmorphology (unusual features) and growth issues. A neurodevelopmental exam must be included. Often lab studies are required also. The major studies to be considered are a metabolic screen, DNA molecular analysis for Fragile X, Karyotype (chromosome analysis), CT scan or MRI, thyroid studies, X-rays, EEG, etc.
Health care professionals must be aware of non-genetic etiologies of developmental disabilities during the prenatal, perinatal and neonatal, and postnatal developmental periods. The genetic etiology of developmental disabilities include single gene disorders such as automosal dominant, autosomal recessive, and X-linked recessive types. Chromosomal abnormalities—polysomy, autosomal deletion or sex chromosome abnormalities—can also be responsible for developmental disabilities.
Multifactorial etiology of developmental disabilities includes both environmental and polygenic elements, such as neural tube defects (spina bifida), hydrocephalus. There are several syndromes associated with mental retardation, such as Prader-Willi, Williams, Sotos, Rett, Cornelia de Lange, Angelman, Rubinstein-Taybi, Apert, and Sturge-Weber.
Cause of Mental Retardation – Literature Survey
|
Chromosome abnormalities |
4 – 28% |
|
Recognizable syndrome |
3 – 7% |
|
Known monogenic conditions |
3 – 9% |
|
Structural CNS abnormalities |
7 – 17% |
|
Complications of prematurity |
2 – 10% |
|
Environmental/teratogenic |
5 – 13% |
|
Cultural-Familial MR |
3 – 12% |
|
Metabolic/endocrine |
1 – 5% |
|
Provisionally unique, monogenic syndrome |
1 – 5% |
|
Unknown |
30 – 50% |
|
|
|
|
Curry, et al. Am. J. Med. Genetics, 72: 468-477, 1997 |
|
DIAGNOSTIC APPROACH TO COMMON PROBLEMS IN THE MINIMALLY VERBAL DEVOLPMENTALLY DISABLED POPULATION
I. GENERAL CONSIDERATIONS
A. Approach to the patient
1. Build rapport, make eye contact and respect privacy.
2. Caregivers as consolers, interpreters and information providers.
3. Determine history of tolerating previous medical appointments.
4. Establish consent.
5. Allow extra time.
B. Clinical issues
1. Question existing diagnoses.
2. Determine underlying DD etiology and associated medical issues.
3. In a diagnostic work-up, check simple things first.
4. Importance of flow sheets from caregivers.
5. Referrals to specialists familiar with DD population.
C. Medications
1. Minimize medications whenever possible.
2. Unusual or paradoxical reactions are more common in people with DD
3. Caregiver awareness of potential medication side effects.
4. Look for potential drug-drug interactions.
5. Removing a drug can have just as serious an effect on other drugs as adding one.
6. Time the blood draw for drug levels so as to reflect trough values.
7. Highly protein bound drugs.
D. Drug-drug interactions example: carbamazepine (Tegretol)
1. Hepatic enzyme inducers.
2. Carbamazepine as inducer and substrate of CYP-450 enzymes.
3. Substrates that carbamazepine can alter.
4. Enzyme inhibitors that can potentially cause carbamazepine toxicity.
5. Carbamazepine 10,11-epoxide as a hidden drug-drug interaction.
II. COMMON PRESENTING PROBLEMS
A. Agitation
1. Check simple things first.
2. Medications.
3. Pain: clues to diagnosis, dental problems, headaches.
4. Seizure related issues (preictal or postictal).
5. Pruritus and other skin conditions.
6. GERD and other GI conditions.
B. Lethargy
1. Medications.
2. Postictal.
3. Infections.
4. Sleep changes.
5. Thyroid Function
C. Cough/congestion
1. Increased risk of respiratory problems in the DD population:
a. aspiration secondary to seizures & /or dysphagia.
b. reflux associated RAD.
2. Diagnostic difficulties:
auscultation, CXR, CBC, vital sign interpretation.
D. Emesis
1. Increased risk of GI problems in DD population:
dysphagia, constipation, pica, medications, H.pylori.
2. Diagnostic issues