Table 3

Preventive care checklist for adults with developmental disabilities: The level of evidence is indicated for each recommendation and is based on the cited reference or references.

1. Disparities in primary care exist between adults with DD and the general population. The former often have poorer health, increased morbidity, and earlier mortality.2 Assessments that attend to the specific health issues of adults with DD can improve their primary care.9a. Apply age- and sex-specific guidelines for preventive health care as for adults in the general population.10,11 Perform an annual comprehensive preventive care assessment including physical examination and use guidelines and tools adapted for adults with DD.9I
2. Etiology of DD is useful to establish, whenever possible, as it often informs preventive care or treatment.1214a. Contact a genetics centre for referral criteria and testing protocols concerning etiologic assessment of adults whose DD is of unknown or uncertain origin.1517III
Advances in genetic knowledge continue to enhance detection of etiology.13,18b. Consider reassessment periodically if a previous assessment was inconclusive, according to the criteria of the genetics centre.19III
3. Adaptive functioning can decline or improve in some adults with DD. A current assessment of intellectual and adaptive functioning helps to determine necessary care and supports, and establishes a baseline for future assessment.1,20,21a. Refer to a psychologist for assessment of functioning if the patient has never been assessed during adolescence or adulthood, or if a considerable life transition is expected (eg, cessation of schooling or transition from middle to old age).III
b. Consider reassessment if indicated, comprehensively or in specific areas, to determine contributing factors to problem behaviour (see guideline 22).22III
4. Pain and distress, often unrecognized,23 might present atypically in adults with DD, particularly those who have difficulty communicating. Nonspecific changes in behaviour might be the only indicator of medical illness or injury.24,25a. Be attentive to atypical physical cues of pain and distress using an assessment tool adapted for adults with DD.26,27III
Evaluation tools are available to assess the presence and intensity of pain in adults with DD.2729b. Consider medical causes of changes in behaviour (eg, urinary tract infection, dysmenorrhea, constipation, dental disease).30III
5. Multiple or long-term use of some medications by adults with DD can cause harm that is preventable.31a. Review the date of initiation, indications, dosages, and effectiveness of all medications regularly (eg, every 3 mo).32III
b. Determine patient adherence capacity and recommend dosettes, blister-packs, and other aids if necessary.III
c. Watch for both typical and atypical signs of adverse effects.33 Regularly monitor potentially toxic medications or interactions of medications (eg, liver function tests or serum drug levels) at the recommended interval for each medication.34III
d. Ensure that patient and staff or caregivers are educated about appropriate use of medications, including over-the-counter, alternative, and as-needed medications.III
6. Abuse and neglect of adults with DD occur frequently and are often perpetrated by people known to them.3539 Behavioural indicators that might signal abuse or neglect include unexplained change in weight, noncompliance, aggression, withdrawal, depression, avoidance, poor self-esteem, inappropriate attachment or sexualized behaviour, sleep or eating disorders, and substance abuse.35a. Screen annually for risk factors (eg, caregiver stress) and possible behavioural indicators of abuse or neglect.35III
b. When abuse or neglect is suspected, report to the police or other appropriate authority and address any consequent health issues (eg, through appropriate counseling).35III
7. Capacity for voluntary and informed consent varies with the complexity and circumstances of decision making. The limited range of life experiences of some adults with DD, level of intellectual functioning, learned helplessness, and some mental health issues might impair capacity to give informed or voluntary consent. An adult with DD assessed as incapable of some aspects of decision making (eg, understanding or judging consequences) might still be able to convey, through verbal or other means, perspectives that can inform the judgment of a substitute decision maker.40a. Always assess capacity for consent when proposing investigations or treatments for which consent is required.41III
Communicating appropriately with adults with DD is necessary for assessing their capacity to consent and for seeking this consent.42b. Adapt the level and means of communicating to the patient’s level of intellectual and adaptive functioning.43III
Although some adults with DD might be incapable of giving consent, they might be able to contribute to decision making (eg, understanding information, expressing perspectives, giving assent) with appropriate support from regular caregivers. Caregivers can also contribute to decision making. They may consent to or refuse treatment on behalf of an adult with DD who is assessed to be incapable of providing informed consent, if they are the most appropriate and available substitute decision makers according to the law.40c. Always consider the best interests of the adult with DD, including his or her perspective in pursuing or forgoing any health care intervention. Support whatever decision-making capacity is possible in adults with DD. Involve family or other caregivers to facilitate communication with, and understanding of, the adult with DD, but also be attentive to inappropriate taking over of decision making.42,44III
8. Advance care planning can often make a positive difference to the outcome of difficult life transitions and crises, and for end-of-life care.40,43,45a. Discuss advance care plans with adults with DD and their caregivers, especially to determine their preference of a substitute decision maker.41III
b. Record advance care plans and review them annually, or sooner in the context of a health crisis, for appropriateness to the adult with DD’s present situation and for what needs to be implemented.43III
9. interdisciplinary health care is effective in addressing the complex needs of adults with DD. Ideally this would involve a family physician, nurse, and other health practitioners as required, with a coordinator, who might be the family physician, to ensure continuity of care.46,47a. Involve other available health professionals as needed.46 To address complex physical, behavioural or mental health needs, consult available regional service coordination agencies or specialized interdisciplinary teams.48,49III
10. Physical inactivity and obesity are prevalent among adults with DD and are associated with adverse outcomes, including cardiovascular disease, diabetes, osteoporosis, constipation, and early mortality.50,51 Being underweight, with its attendant health risks, is also common.52a. Monitor weight and height regularly and assess risk status using body mass index, waist circumference, or waist-hip ratio measurements.53,54II
A health promotion program can improve attitudes toward physical activity and satisfaction with life.55,56b. Counsel patients and their caregivers annually or more frequently, if indicated, regarding guidelines for nutrition and physical fitness and how to incorporate regular physical activity into daily routines. Refer to dietitian if indicated.5659II
11. vision and hearing impairments among adults with DD are often underdiagnosed and can result in substantial changes in behaviour and adaptive functioning.6064a. Perform office-based screening of vision and hearing (eg, Snellen eye chart, whispered voice test) annually as recommended for average-risk adults, and when symptoms or signs of visual or hearing problems are noted, including changes in behaviour and adaptive functioning.33,65III
b. Refer for vision assessment to detect glaucoma and cataracts every 5 y after age 45.65III
c. Refer for hearing assessment if indicated by screening and for age-related hearing loss every 5 y after age 45.65III
d. Screen for and treat cerumen impaction every 6 mo.66,67III
12. Dental disease is among the most common health problems in adults with DD owing to their difficulties in maintaining oral hygiene routines and accessing dental care. Changes in behaviour can be the result of discomfort from dental disease.33,68a. Promote regular oral hygiene practices and other preventive care (eg, fluoride application) by a dental professional.6972I
13. Cardiac disorders are prevalent among adults with DD. Risk factors for coronary artery disease include physical inactivity, obesity, smoking, and prolonged use of some psychotropic medications.51,73,74a. When any risk factor is present, screen for cardiovascular disease earlier and more regularly than in the general population and promote prevention (eg, increasing physical activity, reducing smoking).73III
Some adults with DD have congenital heart disease and are susceptible to bacterial endocarditis.b. Refer to a cardiologist or adult congenital heart disease clinic.75III
c. Follow guidelines for antibiotic prophylaxis for those few patients who meet revised criteria.76II
14. Respiratory disorders (eg, aspiration pneumonia) are among the most common causes of death for adults with DD. Swallowing difficulties are prevalent in those patients with neuromuscular dysfunction or taking certain medications with anticholinergic side effects, and they might result in aspiration or asphyxiation.7779a. Screen at least annually for possible signs of swallowing difficulty and overt or silent aspiration (eg, throat clearing after swallowing, coughing, choking, drooling, long mealtimes, aversion to food, weight loss, frequent chest infections). Refer as appropriate.80III
15. Gastrointestinal and feeding problems are common among adults with DD. Presenting manifestations are often different than in the general population and might include changes in behaviour or weight.8183a. Screen annually for manifestations of GERD and manage accordingly. If introducing medications that can aggravate GERD, monitor more frequently for related symptoms.83,84III
b. If there are unexplained gastrointestinal findings or changes in behaviour or weight, investigate for constipation, GERD, peptic ulcer disease, and pica.82,84II
Adults with DD might have an increased risk of Helicobacter pylori infection related to factors such as having lived in a group home, rumination, or exposure to saliva or feces due to personal behaviour or environmental contamination.83,85,86c. Screen for H pylori infection in symptomatic adults with DD or asymptomatic ones who have lived in institutions or group homes. Consider retesting at regular intervals (eg, 3–5 y).83III
d. Consider urea breath testing, fecal antigen testing, or serologic testing depending on the indication, availability, and tolerability of the test.83,85III
16. Sexuality is an important issue that is often not considered in the primary care of adolescents and adults with DD.87,88a. Discuss the patient’s or caregiver’s concerns about sexuality (eg, menstruation, masturbation, fertility and genetic risks, contraception, menopause) and screen for potentially harmful sexual practices or exploitation. Offer education and counseling services adapted for those with DD.89,90III
17. Musculoskeletal disorders (eg, scoliosis, contractures, and spasticity, which are possible sources of unrecognized pain) occur frequently among adults with DD and result in reduced mobility and activity, with associated adverse health outcomes.51,91a. Promote mobility and regular physical activity.56,92III
b. Consult a physical or occupational therapist regarding adaptations (eg, wheelchair, modified seating, splints, orthotic devices) and safety.92III
Osteoporosis and osteoporotic fractures are more prevalent and tend to occur earlier in adults with DD than in the general population.93 In addition to aging and menopause, risk factors include severity of DD, low body weight, reduced mobility, increased risk of falls, smoking, hypogonadism, hyperprolactinemia, the presence of particular genetic syndromes (eg, Down and Prader-Willi),91,9496 and long-term use of certain drugs (eg, glucocorticoids, anticonvulsants, injectable long-acting progesterone in women).34,97 Diagnosis and management of osteoporosis related to the side effects of current treatments can be challenging in adults with DD.c. Periodically assess risk of developing osteoporosis in all age groups of male and female patients with DD. Those at high risk warrant regular screening starting in early adulthood.94,96III
d. Recommend early and adequate intake or supplementation of calcium and vitamin D unless contraindicated (eg, in Williams syndrome).94III
Osteoarthritis is becoming more common with increasing life expectancy and weight gain, posing diagnostic and treatment difficulties.51,98e. Be aware of osteoarthritis as a possible source of pain.51III
18. Epilepsy is prevalent among adults with DD and increases with the severity of the DD. It is often difficult to recognize, evaluate, and control,99101 and has a pervasive effect on the lives of affected adults and their caregivers.102a. Refer to guidelines for management of epilepsy in adults with DD.101III
b. Review seizure medication regularly (eg, every 3–6 mo). Consider specialist consultation regarding alternative medications when seizures persist, and possible discontinuation of medications for patients who become seizure-free.101III
c. Educate patients and caregivers about acute management of seizures and safety-related issues.103III
19. Endocrine disorders (eg, thyroid disease, diabetes, and low testosterone) can be challenging to diagnose in adults with DD.33,104106 Adults with DD have a higher incidence of thyroid disease compared with the general population.107a. Monitor thyroid function regularly. Consider testing for thyroid disease in patients with symptoms (including changes in behaviour and adaptive functioning) and at regular intervals (eg, 1–5 y) in patients with elevated risk of thyroid disease (eg, Down syndrome).33III
b. Establish a thyroid baseline and test annually for patients taking lithium or atypical or second-generation antipsychotic drugs.34III
Currently there is no clear evidence of increased prevalence of diabetes in adults with DD, with some exceptions (eg, Down syndrome).108,109 Diabetes management guidance has been developed for adults with DD and their care providers.110,111c. Consider screening for diabetes in adults with DD who are obese or who have sedentary lifestyles or hyperlipidemia.III
Limited available data suggest that hypogonadism is common among men with DD.106 Substantial data are available on hypogonadism associated with specific syndromes (eg, Prader-Willi syndrome).112d. Consider screening for hypogonadism and testosterone level at least once after full puberty is achieved, ideally at around age 18 y, and refer as appropriate if low levels are found.105,106III
20. Infectious disease prevention and screening. Even though immunization is a crucial component of preventive care, adults with DD might have limited awareness of immunizations.9,33,113a. Follow guidelines for routine immunization of adults.114,115III
b. Ensure influenza and Streptococcus pneumoniae vaccinations are current and offered when appropriate.116III
c. Discuss the human papillomavirus vaccine with female patients with DD between the ages of 9 and 26 y and, if appropriate, their substitute decision makers.117III
It is important to screen for infectious diseases (eg, hepatitis B, HIV, and H pylori) in adults with DD.d. Screen for infectious diseases based on the patient’s risk factors for exposure (for H pylori see 15c, 15d).III
Some adults with DD have an increased risk of exposure to infectious diseases (eg, hepatitis A and B).118,119e. Offer hepatitis A and B screening and immunization to all at-risk adults with DD,117119 including those who take potentially hepatotoxic medications or who have ever lived in institutions or group homes.115III
21. Cancer screening is an essential aspect of preventive care. However, adults with DD are less likely than those in the general population to be included in preventive screening programs such as cervical screening,113 breast examination, mammography, and digital rectal examination.2 They are also less likely to do self-examination or to report abnormalities. Colorectal cancer risk is considerably greater for women than for men with DD.120a. Perform regular cervical screening for all women who have been sexually active.121I
b. Perform annual breast screening, including mammography, for female patients with DD aged 50-69 y.122III
c. Perform an annual testicular examination for all male patients with DD.123III
d. Screen for prostate cancer annually using digital rectal examination from age 45 y for all male patients with DD.124II
e. Screen for colon cancer regularly in all adult patients with DD older than 50 y.120,125I
22. Problem behaviour, such as aggression and self-injury, is not a psychiatric disorder but might be a symptom of a health-related disorder or other circumstance (eg, insufficient supports).25,126,127a. Before considering a psychiatric diagnosis, assess and address sequentially possible causes of problem behaviour, including physical (eg, infections, constipation, pain), environmental (eg, changed residence, reduced supports), and emotional factors (eg, stress, trauma, grief).127II
Problem behaviours sometimes occur because environments do not meet the developmental needs of the adult with DD.128b. Facilitate “enabling environments” to meet these unique developmental needs as they will likely diminish or eliminate these problem behaviours.128III
Despite the absence of an evidence base, psychotropic medications are regularly used to manage problem behaviours among adults with DD.129,130 Antipsychotic drugs should no longer be regarded as an acceptable routine treatment of problem behaviours in adults with DD.131c. Regularly audit the use of prescribed psychotropic medication, including those used as needed.132 Plan for a functional analysis (typically performed by a behavioural therapist or psychologist) and interdisciplinary understanding of problem behaviours. Review with care providers psychological, behavioural, and other nonmedication interventions to manage problem behaviours. Consider reducing and stopping, at least on a trial basis, medications not prescribed for a specific psychiatric diagnosis.133III
23. Psychiatric disorders and emotional disturbances are substantially more common among adults with DD, but their manifestations might mistakenly be regarded as typical for people with DD (ie, “diagnostic overshadowing”). Consequently, coexisting mental health disturbances might not be recognized or addressed appropriately.21,134,135a. When screening for psychiatric disorder or emotional disturbance, use tools developed for adults with DD according to their functioning level (eg, Aberrant Behaviour Checklist-Community [ABC-C]; Psychiatric Assessment Schedule for Adults with DD [PAS-ADD]).136139III
Increased risk of particular developmental, neurologic, or behavioural manifestations and emotional disturbances (ie, “behavioural phenotypes”) is associated with some DD syndromes.140,141b. Consult available information on behavioural phenotypes in adults with DD due to specific syndromes.142,143III
Establishing a diagnosis of a psychiatric disorder in adults with DD is often complex and difficult, as these disorders might be masked by atypical symptoms and signs.21,135 In general, mood, anxiety, and adjustment disorders are underdiagnosed144 and psychotic disorders are overdiagnosed in adults with DD.145,146c. When psychiatric disorder is suspected, seek interdisciplinary consultation from clinicians knowledgeable and experienced in DD.III
24. Psychotic disorders are very difficult to diagnose when delusions and hallucinations cannot be expressed verbally.145 Developmentally appropriate fantasies and imaginary friends might be mistaken for delusional ideation, and self-conversation for hallucination.145,147,148a. Seek interdisciplinary input from specialists in psychiatry, psychology, and speech-language pathology with expertise in DD to help clarify diagnoses in patients with limited or unusual use of language.144,149,150III
25. Input and assistance from adults with DD and their caregivers are vital for a shared understanding of the basis of problem behaviours, emotional disturbances, and psychiatric disorders, and for effectively developing and implementing treatment and interventions.127,151,152a. Establish a shared way of working with patients and caregivers. Seek input, agreement, and assistance in identifying target symptoms and behaviours that can be monitored.III
b. Use tools (eg, sleep charts, antecedent–behaviour-consequence [ABC] charts) to aid in assessing and monitoring behaviour and intervention outcomes.153,154III
26. Interventions other than medication are usually effective for preventing or alleviating problem behaviours.133,144,155a. To reduce stress and anxiety that can underlie some problem behaviours, emotional disturbances, and psychiatric disorders, consider such interventions as addressing sensory issues (eg, underarousal, overarousal, hypersensitivity), environmental modification, education and skill development, communication aids, psychological and behaviour therapies, and caregiver support.144III
b. Cognitive behavioural therapy can be effective in decreasing anger and treating anxiety and depression in adults with DD.156,157III
c. There is increasing evidence of the efficacy of psychotherapy for emotional problems (eg, related to grief, abuse, trauma) that might underlie aggression, anxiety, and other such states.158162III
27. Psychotropic medications (eg, antidepressants) are effective for robust diagnoses of psychiatric disorders in adults with DD163 as in the general population.164a. When psychiatric diagnosis is confirmed after comprehensive assessment, consider psychotropic medication along with other appropriate interventions as outlined in guideline 26.165III
Psychotropic medications, however, can be problematic for adults with DD and should therefore be used judiciously. Patients might be taking multiple medications and can thus be at increased risk of adverse medication interactions. Some adults with DD might have atypical responses or side effects at low doses. Some cannot describe harmful or distressing effects of the medications that they are taking.34,166b. “Start low, go slow” in initiating, increasing, or decreasing doses of medications.167III
c. Arrange to receive regular reports from patients and their caregivers during medication trials in order to monitor safety, side effects, and effectiveness.133III
d. In addition to reviews every 3 mo (see guideline 5), also review the psychiatric diagnosis and the appropriateness of prescribed medications for this diagnosis whenever there is a behavioural change.34,133III
When unable to pinpoint a specific psychiatric diagnosis, behaviours of concern might serve as index behaviours against which to conduct a trial of medications.133,167e. Having excluded physical, emotional, and environmental contributors to the behaviours of concern, a trial of medication appropriate to the patient’s symptoms might be considered.III
28. Antipsychotic medications are often inappropriately prescribed for adults with behaviour problems and DD.168 In the absence of a robust diagnosis of psychotic illness, antipsychotic medications should not be regarded as routine treatments of problem behaviours in adults with DD.131a. Do not use antipsychotic medication as a first-line treatment of problem behaviours without a confirmed robust diagnosis of schizophrenia or other psychotic disorder.131III
Antipsychotic medications increase risk of metabolic syndrome and can have other serious side effects (eg, akathisia, cardiac conduction problems, swallowing difficulties, bowel dysfunction).34,166b. Carefully monitor for side effects of antipsychotic medication, including metabolic syndrome. Educate patients and caregivers to incorporate a healthy diet and regular exercise into their lifestyle.34III
c. Reassess the need for ongoing antipsychotic medications at regular intervals and consider dose reduction or discontinuation when appropriate (also see guidelines 5 and 27).34III
29. Behavioural crises can occasionally arise that might need management in an emergency department.169173a. When psychotropic medications are used to ensure safety during a behavioural crisis, ideally such use should be temporary (no longer than 72 h).III
b. Debrief with care providers in order to minimize the likelihood of recurrence. This should include a review of crisis events and responses (eg, medication, de-escalation measures), and identification of the possible triggers and underlying causes of the behavioural crisis.133,174III
c. If the patient is at risk of recurrent behavioural crises, involve key stakeholders, including local emergency department staff, to develop a proactive, integrated emergency response plan.174III
30. Alcohol or drug abuse is less common among adults with DD than in the general population, but the former might have more difficulty moderating their intake and experience more barriers to specialized rehabilitation services.175177a. Screen for alcohol and drug abuse as part of the annual health examination.III
31. Dementia is important to diagnose early, especially in adults with Down syndrome who are at increased risk.178 Diagnosis might be missed because changes in emotion, social behaviour, or motivation can be gradual and subtle. A baseline of functioning against which to measure changes is needed.a. For patients at risk of dementia, assess or refer for psychological testing to establish a baseline of cognitive, adaptive, and communicative functioning. Monitor with appropriate tools.179III
Differentiating dementia from depression and delirium can be especially challenging.180b. Educate family and other care providers about early signs of dementia. When signs are present, investigate for potential reversible causes of dementia.III
c. Consider referral to the appropriate specialist (ie, psychiatrist, neurologist) if it is unclear whether symptoms and behaviour are due to emotional disturbance, psychiatric disorder, or dementia.179III
  • DD—developmental disabilities, GERD—gastroesophageal reflux disease.