If you asked a group of medical professionals to describe how rewarding it is to care for patients who are developmentally disabled, you would get a wide variety of answers. Many would likely focus on the characteristics of these individuals, describing a patient population that is often surprisingly open and says exactly what they think. They would describe several patients who are genuine, without pretense or hidden agendas. These medical providers would also describe the challenge and the satisfaction of making difficult diagnoses and providing complex treatment. They would notice the loving, innovative, and compassionate care provided by parents, guardians, families, and friends.
Patients with developmental disabilities have much in common with neurotypical patients. They benefit from the same activities and conditions. They need an appropriate diet as well as adequate sleep and exercise. Friendships and special interests have significant meaning in their lives. A full range of personalities is represented within this population. Some are mischievous and love to tease. Others have an affinity for music. Some are gifted with good memories or special abilities. The importance of variety and satisfaction in their lives should not be underestimated.
It is a challenge to care for people who are developmentally disabled. Our ability to obtain an adequate history is impaired when a patient is unable to verbalize their own history. Sometimes a patient might give their history through actions or behaviors, possibly even self-injurious behavior. A diagnosis might be suggested by a laboratory finding such as WBCs in the urine, but this still may not be the source of the individual’s symptoms.
Issues Related to Obtaining an Adequate History
Patients and providers alike benefit greatly from families, guardians, and caregivers when facing the challenge of obtaining an adequate history. These valuable historians are aware of the patient’s medical history and can describe baseline behavior. They will facilitate communication and advocate for the patient. Similarly, you, as the patient’s provider, can aid other healthcare professionals if your patient is hospitalized or needs a medical consultation. At our facility, we have standardized the practice of sending a physical copy of a patient’s medical history, medication list, special diet orders, and list of serious diagnoses when sending that patient to the emergency department. As the time for hospital discharge approaches, a caregiver who is familiar with that patient’s baseline behavior should consult with the hospital treatment team to confirm if they have truly returned to baseline.
Etiology and Changes in Frequency of Developmental Disabilities
The occurrence of developmental disabilities can be grouped into a few main categories. There are genetic disorders such as Down’s syndrome. Others are born with a disorder that is not genetic such as fetal alcohol syndrome. Some are acquired later in life as the result of an illness or injury such as meningitis or traumatic brain injury. There are many medical diagnoses associated with a developmental disability. These are frequently managed by primary care providers with the assistance of a consulting neurologist or psychiatrist. Epilepsy and autism spectrum disorder are included in this category.
The population of individuals with developmental disabilities has changed over time. Some older individuals in this population have conditions well known to previous generations of physicians such as congenital rubella or untreated phenylketonuria (PKU). These conditions today are rare amongst younger patients in this population. Autism spectrum disorder is becoming more prominent in this population today. Despite increasing numbers of less-severe cases of developmental disability, it cannot be understated how debilitating this condition can become when it is compounded by a diagnosis such as depression, anxiety, or psychosis. Indeed, psychiatric co-occurring diagnoses such as these affect patients with developmental disabilities more frequently than the general population. These patients will frequently struggle to reach educational and functional goals or have adverse interactions with the law. Expert consultation with a psychiatric provider is highly recommended in cases such as these.
This generation of physicians is dealing with aging issues in the developmentally disabled population. With good medical care and modern medical interventions, individuals are frequently living long beyond what they were in the past. They are living long enough to develop conditions relative to age frequently seen in the general population not previously seen in this group.
Significant Challenges in Treating Individuals with a Developmental Disability
As previously mentioned, patients with developmental disabilities tend to reveal their medical problems in unusual or underappreciated ways. Often, they will do things that seem inexplicable such as banging their head when they have a headache. Caution is warranted for those who have an unexplained fever with abdominal pain. Often a CT will reveal serious pathology such as a perforated or blocked bowel.
Additionally, there are concerns relative to specific drugs prescribed because of behavioral problems. The following is a partial list of classes of drugs and their effects:
- Antipsychotic drugs: Anticholinergic effects such as difficulty swallowing, and constipation as well as extrapyramidal reactions.
- Lithium: Hypothyroidism; total or partial diabetes insipidus which can result in dehydration with hypernatremia.
- Mood stabilizers: Depakote or VPA can lead to increased ammonia causing lethargy. Carbamazepine can cause neutropenia and or thrombocytopenia.
- Seizure medications: These drugs can lead to neutropenia or thrombocytopenia and can be symptomatic at toxic levels. They can result in RBC macrocyte morphology which can mask iron deficiency.
Physical Abnormalities, Diagnoses, and Findings
There are frequent physical abnormalities in individuals with developmental disabilities, below is a partial list of such findings:
- General: Seizures, short stature, unusual facies, behavior related to psychiatric co-occurring diagnoses, aggression, resistance to treatment, anxiety, SIB (self-injurious behavior), sleep disturbance, obesity, hypothermia, dehydration with hypernatremia, syndrome of inappropriate ADH, high levels of seizure medications or lithium, high levels of ammonia, anticholinergic symptoms, and movement disorders
- Skin: Lacerations that are self-inflicted or related to falls, pressure ulcers, MRSA
- Head: Headache or sinusitis sometimes manifest by head banging
- Eyes: Corneal lacerations and abrasions, retinal detachment, cataracts (manifested by new difficulty with ambulation), glaucoma, conjunctivitis, subconjunctival hemorrhage
- ENT: Impacted cerumen, foreign bodies in the ears and nose, drooling
- Respiratory: Aspiration or other pneumonia, pulmonary fibrosis with chronic lung disease related to aspiration
- CV: Lipid disorders related to medications; QT prolongation related to medications
- GI: GERD, bleeding, ingestion of foreign objects, regurgitation, rumination, dysphagia related to medications, constipation secondary to anticholinergic medications, megacolon, bowel blockage, feeding tubes (G and J), gallbladder disease difficult to diagnose clinically, pancreatitis, mildly elevated liver enzymes related to medications, acute abdomen causing sepsis, Hepatitis B, foreign bodies in the rectum.
- GU: Urine retention, urinary tract infections, diabetes insipidus with hypernatremia, hyponatremia secondary to the syndrome of inappropriate antidiuretic hormone, chronic kidney disease, suprapubic catheters, foreign bodies in the vagina
- Endocrine: Diabetes, hypothyroid, increase prolactin related to antipsychotic drugs
- Hematologic: Iron deficiency, neutropenia and or thrombocytopenia, macrocytic RBC related to seizure medication
- MS: Hemiparesis, osteoporosis, fractures from falls
- NP: Epilepsy, psychiatric illnesses, anxiety, aggression, microcephaly and macrocephaly, movement disorders and extra pyramidal disorders
Quality of Life Considerations
It is very difficult for a medical professional to judge the quality of life of an individual who has developmental disabilities. This is a significant issue. The life that a person with developmental disabilities has is the only life they know. It is not fair to judge the quality of their life as compared to that of the person who is making the judgment. As medical professionals, we should be careful about making the decision to put such individuals on hospice or not treat them based on a judgment concerning the quality of their life. Obviously, there are medical conditions that preclude treatment or make it inadvisable, but caution in making such decisions in the developmentally disabled is advised.
About the Authors
Dr. Cook and Dr. Monson graduated from the University of Utah Medical School in 1962 and 2013 respectively — 51 years apart. From the demographics of their classes to the advances in medical technology, it has been delightful and enlightening for them to contrast how medicine has changed over time while practicing together at the Utah State Developmental Center (USDC). The USDC is an intermediate care facility for individuals with intellectual disabilities located in American Fork, Utah.
Joseph Cook is a graduate of Utah State University and the University of Utah School of Medicine. He completed a straight medical internship followed by almost four years providing outpatient medical care to U.S. Navy personnel and dependents mostly in the Philippines. In 1967, he started general practice in San Mateo, California. In 1970, he was in the first group to qualify as a board-certified family physician. Following a long career in private practice and administrative medicine, he became the medical director of the Utah State Developmental Center (USDC) in 2007 where he still works part-time. While in private practice, he taught many medical students and was a clinical professor at the University of California in San Francisco. He is a fellow of the AAFP.
Steven Monson is a graduate of Brigham Young University and the University of Utah School of Medicine. While a student at BYU, he worked at the USDC as a caregiver. Dr. Monson completed a family practice residency in Muncie, Indiana. He started as an attending physician at USDC in 2016 before becoming the current medical director, succeeding Dr. Cook in 2017. Dr. Monson has an interest in aerospace medicine and has been an active flight surgeon in the Indiana Air National Guard since 2016.