Introduction
Individuals with Down syndrome may sometimes stop eating or may significantly limit the amounts or variety of foods they eat. While not a common finding, it does occur and can be quite challenging to treat. Although there are several studies on feeding disturbances in children with Down syndrome,[1][2][3][4] there is little information on the topic of feeding disturbances in adults except for some literature on selective eating (limiting food selections and/or avoiding certain foods).[5] Eating refusal is an example of the interaction between physical and mental health in adults with Down syndrome, and it is beneficial to approach the problem with this perspective in mind.
The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR) describes the condition “Avoidant/Restrictive Food Intake Disorder” (ARFID).[6] ARFID is marked by a feeding or eating disturbance that causes weight loss, nutritional deficiency, dependence on supplementary feeding (oral, by tube, or intravenously), and interferes with psychosocial functioning. Medical conditions can contribute to the change in eating seen in ARFID, but the decreased eating is beyond what can be directly accounted for by the physical symptoms of the illness. Phobias, anxiety, post-traumatic stress disorder, depression, obsessive-compulsive disorder, and other mental illnesses can co-occur with ARFID or may instead be the only mental health diagnosis (instead of ARFID). One mental illness, in clinical experience, that is rarely the cause of ARFID in individuals with Down syndrome is anorexia nervosa. There are case reports of anorexia nervosa,[7][8][9] but those cases, in retrospect, may now fit the criteria of ARFID, which is a diagnosis that was not recognized until recently.
It can be challenging to make a definite diagnosis of ARFID in adolescents or adults with Down syndrome, particularly when the individual has difficulty providing a medical history of symptoms and discussing their feelings. It is clear, however, that some individuals with Down syndrome do develop feeding disturbances and ARFID is the likely diagnosis for some or perhaps many of these individuals. However, because ARFID can be difficult to differentiate in an individual with Down syndrome and is an example of the close interaction between mental and physical health conditions in this population, we refer to this condition more broadly as eating refusal.
What is Eating Refusal?
Clinically, eating refusal is a significant change in an individual’s eating or drinking pattern that produces significant weight loss or other health risks. Any of the following would be labeled eating refusal:
- stopping eating and drinking altogether,
- refusing to eat all but a small, select group of foods,
- refusing to eat certain textures (for example, liquid but not solid foods), or
- eating small, inadequate amounts of food.
Eating refusal often begins as a symptom or complication of a physical condition. For example, an individual may stop eating in response to pain, such as might occur with a peptic ulcer. Clinically, some individuals continue to refuse food even after their physical pain has resolved. This prolonged eating refusal cannot be explained by the persistence of the physical symptom, which is no longer present. Left untreated, eating refusal can become a learned behavior, or the person may develop an obsession about the physical symptom of pain and a compulsion to avoid eating and thus the pain or discomfort associated with eating.
Decreased appetite can also be a direct symptom of mental illnesses other than ARFID. Loss of appetite is a common symptom of depression. When eating refusal accompanies the onset of symptoms of a mental health disorder such as depression, the eating problem is considered a symptom of that disorder, or one can consider a dual diagnosis of depression and ARFID. In these situations, there may not be a contributing physical condition. A decline in skills and/or a behavioral change may also be present, and further information is available in the article Decline in Skills and Behavioral Change in Adults with Down Syndrome.
Feeding disturbances are common in children with Down syndrome and can be related to several medical conditions.[10] For example, one study found that children with a feeding disorder or selective eating patterns, especially boys with intellectual disabilities, were at risk for not achieving an age-adequate food intake, despite behavioral treatment.[11] However, it is not clear if this outcome would put that individual at risk of developing a significant eating refusal later in life.
Diagnosis
The first step in diagnosing eating refusal is to assess for underlying physical health conditions. The differential diagnosis includes, but is not limited to:
- gastroesophageal reflux and esophagitis (with and without esophageal stricture),
- peptic ulcer disease,
- gastrointestinal dysmotility,
- dental problems,
- swallowing dysfunction,
- celiac disease,
- hypothyroidism,
- possible sources of nausea, including kidney disease, diabetes, calcium abnormalities, or pancreatitis,
- intracranial abnormalities such as brain tumors or other causes of increased cranial pressure,
- medication side effects,
- Down Syndrome Regression Disorder,
- a sore throat, or masses in the mouth or throat, or
- other conditions that the history and physical might indicate
Because the individual may not be able to provide a thorough history of their symptoms or potentially contributing conditions, an extensive evaluation is often required. Of note, clinical experience indicates gastrointestinal conditions are frequently contributing causes to eating refusal in adults with Down syndrome. In these cases, blood tests, imaging, and endoscopy may be indicated.
Clinically, another common finding is that by the time the eating refusal is evaluated, the original medical condition may be resolving or may not seem very serious. As indicated in the definition of ARFID, eating refusal is marked by a feeding disturbance beyond what would be expected from the physical condition alone.
Treatment
As noted above, when treating eating refusal, a key component is understanding potentially contributing health conditions and managing them appropriately. When an individual with Down syndrome has an underlying medical condition, resolving the condition sometimes restores normal eating. Although not formally studied, clinical experience suggests that resolving the contributing physical conditions sooner promotes more rapid and complete resolution of the eating refusal and reduces the risk of habitual refusal. Other individuals, however, continue eating refusal even after their physical condition resolves. In these instances, it appears that the refusal behavior began with the onset of a stressful physical condition, which contributed to obsessive thinking, compulsive behavior (i.e., the refusal to eat), depression, ARFID, or other psychiatric conditions.
A common question about eating refusal is whether it is comparable to anorexia nervosa. Despite some similarities, there are also differences. Although adolescents and adults with Down syndrome may refuse eating, they generally do not communicate that they are overweight, have body image concerns, or want to appear slimmer– as is usually the case with individuals who have anorexia nervosa. Instead, eating refusal appears most often as a response to a medical condition, followed by the development of the psychological components as outlined above.
If an individual with Down syndrome continues to refuse to eat after a medical condition is treated (or if no physical condition underlying the eating refusal is found), treatment of mental health conditions, such as obsessive-compulsive disorder or depression, may be indicated. These treatments can include:
- counseling for the individual with Down syndrome and for his family or caregivers,
- swallowing therapy with a speech therapist and/or desensitization therapy with a psychologist to encourage the individual to try eating again,
- supportive therapy until the person is eating adequately, and/or
- medications.
Supportive Therapy
Once the physical condition has been treated, the goal is to help the individual with Down syndrome understand that the pain has resolved and eating will be pain-free. This can require supportive therapy, reassurance, and redirection toward eating. Often this must be done where the person lives and eats, so family and caregivers need to be part of the team that encourages and supports the individual. At school, work, and in recreational settings, it will be helpful to have other trusted persons aware of the situation and be part of the solution. Finally, it can be beneficial for family and staff to consult a licensed counselor or psychologist for guidance in supporting the individual with Down syndrome.
Nutrition
It is essential to confirm adequate nutrition intake and supplement the diet if it is inadequate. However, pressuring the individual to quickly resume a “normal diet” can create anxiety and contribute to further eating refusal. Consultation with a dietitian to optimize nutrient intake can be beneficial. Occasionally (but rarely, in clinical experience), a feeding tube may become necessary.
Counseling
Trying to encourage someone who does not want to eat to eat can be frustrating or even frightening. Caregivers and families usually need coaching and counseling to avoid confrontation, remain calm, and reduce frustrations. Confrontation often leads to the individual with Down syndrome further resisting, which can slow the healing process. A social worker, psychologist, or family therapist might provide beneficial counseling for any caregiver facing these challenges.
Swallowing Therapy and Desensitization
Swallowing therapy with a speech therapist may sometimes be started as soon as the eating problem is recognized, and while the underlying cause is being evaluated. Other times, it is acceptable to wait until the underlying medical cause is found because treatment of that problem may be all that is needed. Reintroducing food may be done through desensitization therapy, which is supervised by a psychologist and may be offered in conjunction with swallowing therapy.
Medications
When depression, anxiety, or obsessive-compulsive disorder accompany eating refusal, antidepressant medications are indicated. Mirtazapine (Remeron) is FDA-indicated for depression, and can stimulate appetite and weight gain. Other anti-depressants to treat depression, anxiety, and/or obsessive-compulsive disorder may be beneficial depending on the clinical presentation. Additional information is in the Mental Health: Diagnosis and Treatment of Adults with Down Syndrome article.
Sometimes a thorough evaluation may lead to diagnosing a psychotic disorder. Most of the atypical antipsychotics cause weight gain in many individuals with Down syndrome. Clinically, olanzapine (Zyprexa) seems to be particularly associated with weight gain in individuals with Down syndrome and may be a good choice for those with eating refusal.
Conclusion
Eating refusal can be a very difficult problem posing a significant threat to health. In individuals with Down syndrome, a thorough evaluation for underlying physical health problems is an essential part of differential diagnosis and treatment. Individual and family counseling, environmental evaluation, supportive therapy, and medications to treat associated psychological diagnoses may all be needed. Nutritional intervention may also be necessary.