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DiPiro’s Pharmacotherapy: A Pathophysiologic Approach, 13th Edition

Chapter e97: Developmental Disabilities

Steven R. Erickson

KEY CONCEPTS

KEY CONCEPTS

People with intellectual and developmental disabilities (IDD) have higher incidence of mental illness and challenging behaviors.

Persons diagnosed with Down syndrome (DS) can be at increased risk for medical and psychiatric comorbidities.

People with IDD experience high rates of polypharmacy and polypsychotropic medication use. Periodic assessment of long­term therapy is
warranted.

Before prescribing psychotropic medications, assess the patient for other factors that may contribute to mental illness or challenging
behaviors such as physical disorders, as well as social and environmental factors.

People with DS have higher rates of Alzheimer­type dementia. A thorough evaluation is needed to differentiate between depression and
Alzheimer disease (AD).

Treatment plans for persons with autism spectrum disorder (ASD) focus on increasing social interactions; improving verbal and nonverbal
communication; and minimizing the occurrence or impact of ritualistic, repetitive behaviors, and other related mood and behavioral challenges
(eg, over activity, irritability, and self­injury).

Many purported pharmacologic and nonpharmacologic treatments for ASD lack objective evidence­based support.

A structured teaching approach focusing on increasing social communication and integration with peers is needed when providing services
to persons with ASD.

Nonpharmacologic interventions for sleep disturbances in individuals diagnosed with ASD should be implemented prior to
pharmacotherapy considerations.

Psychopharmacologic treatment planning should include monitoring of objective, measurable medication­responsive target behaviors and
assessment of potential adverse effects, which are of critical importance when treating the behavioral challenges. Furthermore, the response
of individuals to pharmacotherapy is highly variable.

The use of FDA­approved medication for off­label indications is an acceptable clinical practice if founded on evidence­based research and
includes informed consent.

PATIENT CARE PROCESS

Patient Care Process for Intellectual and Developmental Disabilities

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PATIENT CARE PROCESS University of New England ­ Maine
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Patient Care Process for Intellectual and Developmental Disabilities

Collect

Involve the patient and one or more caregivers in this process

Patient characteristics such as age, sex, pregnancy status

Past medical and psychological history

Previous life events (eg, changes in living situation)

Social history (tobacco/ethanol, substance use or misuse) and dietary habits

Social and community­based activities

Current prescription and nonprescription medications and supplements

Assess

Contraindications to potential medications

Psychotropic medication already prescribed

Presence of adverse effects from medications

Physical causes for challenging behaviors such as constipation, gastroesophageal reflux, seizure, aspiration, pain including dental­related
pain, sleeping problems (Table e97­1)

Risk or evidence of harm to self, others, or property

Frequency of challenging behavior

Patient’s preference for a type of therapy if appropriate and identify those involved in the patient’s medication use process

Plan*

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Use supported decision making, which includes patient preferences, when able
 Frequency of challenging behavior
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Patient’s preference for a type of therapy if appropriate and identify those involved in the patient’s medicationAccess
use Provided
process by:

Plan*

Choose medication with the strongest evidence and minimal adverse effects (Table e97­2)

Determine potential medication interactions with other medications

Use supported decision making, which includes patient preferences, when able

Education for patient and caregivers

Develop nonmedication intervention based on social and personal factors

Type of prescription medication insurance and insurance­related regulations in choice of medication

Implement*

Provide education to patient and caregiver(s)

Work to understand issues related to medication adherence. Choose dosage form that will reduce the likelihood of nonadherence

Follow­up: Monitor and Evaluate*

Reduction in frequency and severity of challenging behaviors

Presence of adverse effects (Table e97­2)

Patient adherence to therapy

Patient’s ability to engage in activities in the community

Caregiver(s) understanding of therapy

Medication interactions with other medications

*
Collaborate with patients, caregivers, and other healthcare professionals.

BEYOND THE BOOK

BEYOND THE BOOK

Compare and contrast the Patient Care Process and the assessment and follow­up tools available on the website for “Healthcare for Adults with
Intellectual and Developmental Disabilities. Toolkit for Primary Care Providers.” [Link]

Mental and Behavioral Health Issues

Identifying Symptoms and Signs of Mental Distress in Adults with IDD Risk Assessment

Psychotropic Medication Checklist

Challenging Behavior

Compare and contrast the criteria for each step of the PCP with those of the Toolkit Mental and Behavioral Health Issues the “Identifying symptoms
and signs of mental distress in adults with IDD,” the “Risk Assessment,” the “Psychotropic Medication Checklist, and the “Challenging Behavior.”
This activity will help you envision the important points to assess when consulting on a patient who has an IDD and challenging behavior.

INTRODUCTION
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Chapter e97: Developmental
Developmental disabilities (DD)Disabilities,
are chronicSteven R. Erickson
disabilities that can be cognitive, physical, or both. They appear before the age of 22 years, havePage 3 / 24
functional
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limitations in their activities of daily living, and are likely to be lifelong. Some DDs are largely associated with physical impairments, such as cerebral
palsy and some individuals may have a condition that includes both a physical and an intellectual disability. Intellectual disability (ID) is a disability
characterized by significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills,
 Compare and contrast the criteria for each step of the PCP with those of the Toolkit Mental and Behavioral Health Issues the “Identifying symptoms
University
and signs of mental distress in adults with IDD,” the “Risk Assessment,” the “Psychotropic Medication Checklist, and of New England
the “Challenging ­ Maine
Behavior.”
This activity will help you envision the important points to assess when consulting on a patient who has an IDD andAccess Provided by:
challenging behavior.

INTRODUCTION
Developmental disabilities (DD) are chronic disabilities that can be cognitive, physical, or both. They appear before the age of 22 years, have functional
limitations in their activities of daily living, and are likely to be lifelong. Some DDs are largely associated with physical impairments, such as cerebral
palsy and some individuals may have a condition that includes both a physical and an intellectual disability. Intellectual disability (ID) is a disability
characterized by significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills,
occurring before the age of 22 years. This chapter will use the term “intellectual or developmental disabilities” (IDD) to refer to people who have
conditions associated with DD, ID, or both.

EPIDEMIOLOGY
Down syndrome and autism spectrum disorder are several of the more common diagnoses, which make up IDD. About 1.5% to 2.5% of the US
population is living with some form of IDD, with a recent survey found 8.6% of children between 3 and 17 years of age having a developmental
disability. The actual prevalence of IDD in the US population varies based on the data source and the definition used. People with IDD primarily reside
in the community in settings that include living with family (70%), group homes, or in supported living arrangements (eg, living by themselves or with
one or two roommates with an aid). Only 16% of adults with IDD live in supervised residential settings.

People with IDD often have some degree of cognitive impairment that may limit their ability to be a collaborative partner in the medication use
process, increasing their risk for medication­related problems. Furthermore, those with IDD generally have a high burden of illness which often leads
to the person taking multiple medications. The prevalence of polypharmacy, with five or more medications, ranges from 30.4% to 45.5% of people who
have IDD, with higher rates being seen in older people. Compared to the general population, these complex medication regimens increase the
individual’s risk for adverse events. Caregivers provide a wide range of support to the person with IDD, depending on the functional ability of the
person, including assisting them in navigating the medication use process. It is also important to point out that health care professionals often to not
have training in their professional programs about the care of persons with IDD. This is one factor associated with the disparities in health outcomes of
persons with IDD.

Mental Illness

Although age­related chronic illness develops in people with IDD similarly to the general population, some conditions may be more prevalent, or occur
at an earlier age. The focus of this chapter is on the mental health and behavioral issues that occur in people with IDD. The term “dual diagnosis” has
been used to refer to a person with IDD and who also has a comorbid mental illness. This description is being updated with the notion that persons
with conditions associated with IDD may, like persons without IDD, experience mental illness. As an example, persons with hypertension and
depression are not referred to as having a dual diagnosis. The same concept should apply to persons with IDD who also have a mental illness. The
prevalence of mental illness in people with IDD is higher than in the general population. Also, challenging behavior such as aggression or self­injurious
behaviors are seen in some people with IDD and are strongly associated with psychotropic medication prescribing, often with multiple psychotropic
medications. Psychiatric disorders in persons with an IDD, such as depression and anxiety, may result from environmental variables (eg, transitions
from family home to group home, change in caregivers), personal variables (eg, age, level of disability, comorbid medical conditions), and the extent to
which the individual can cope. In general, more episodes of major depression, generalized anxiety disorder, and panic disorder are associated with a
greater number of negative life events. Clinicians must be aware of the influence of negative life events on a person with IDD when assessing reasons
for challenging behaviors.

The prevalence estimates of mental illness or challenging behaviors in people with IDD range from 30% to 70%. The range of findings can be attributed
to a variety of factors including differences in population sampling and methodologies used in identifying psychiatric disorders in persons with IDD.
Psychiatric disorders may manifest differently among individuals with IDD compared to the general population. Estimates of the prevalence of mental
illness for patients with IDD may not be entirely accurate, due to difficulties applying diagnostic criteria, difficulty accessing services, and clinical
presentation that may be difficult to interpret. The prevalence of challenging behaviors in people with IDD varies depending on the sample studied,
with ranges from 4%­22% to as high as 50%­80% in more focused studies. A consequence of this is that persons with IDD are prescribed psychotropic
medications more frequently than the general population.

Challenging/Self­Injurious Behaviors

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outcomes such as physical injury and social isolation. Importantly, challenging behaviors serve different functions and many factors contribute to their
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occurrence. As an example, behaviors that are challenging may actually be a form of communication for persons who have difficulty communicating
verbally when they are in distress or discomfort. Mental health disorders and challenging behavior in people with IDD may be associated with sensory
presentation that may be difficult to interpret. The prevalence of challenging behaviors in people with IDD varies depending on the sample studied,
with ranges from 4%­22% to as high as 50%­80% in more focused studies. A consequence of this is that persons withUniversity of New England
IDD are prescribed ­ Maine
psychotropic
medications more frequently than the general population. Access Provided by:

Challenging/Self­Injurious Behaviors

Challenging behaviors may be seen in patients with IDD and include aggression, self­injury, and property destruction that can result in negative
outcomes such as physical injury and social isolation. Importantly, challenging behaviors serve different functions and many factors contribute to their
occurrence. As an example, behaviors that are challenging may actually be a form of communication for persons who have difficulty communicating
verbally when they are in distress or discomfort. Mental health disorders and challenging behavior in people with IDD may be associated with sensory
impairments, negative life events, lack of suitable supports (eg, emotional, social, community, work, and recreational), stress, and limited coping
capacity. Challenging behaviors may also be associated with early victimization or trauma, non­enriched and restrictive environments during both
childhood and adulthood, traumatic brain injury, skill deficiencies in anger management, poor social skills, communication deficits, and
psychopathology. Symptoms related to pain or other medical causes or medication­related adverse events may be expressed behaviorally and
misinterpreted and reported as challenging behavior.

Some people with IDD engage in self­injurious behavior (SIB) which is defined as behavior in which a person harms or attempts to harm themselves
deliberately and physically. Examples include head banging, self­biting, and self­scratching. Individuals who required at least some support for SIB
were found to have fewer relationships, less inclusion in their communities, and poorer employment outcomes. SIB may occur persistently over time
and may be associated with a number of causes such as impairments in vision, expressive language, being autistic, a person’s environment, or a
combination. Challenging behavior should not be considered a problem associated with an individual, but should be regarded as the result of an
interaction between the individual and their environment. The use of positive behavioral supports is gaining acceptance as an alternative form of
treatment for SIB. When working with patients who have IDD and mental illness and/or challenging behaviors, clinicians can screen for sensory
impairments, negative social circumstances, stressful life events, and coping capacity. Family and caregivers may be counseled on the value and
importance of promoting friendships, social networks, and accommodations for inclusion and participation to decrease isolation and loneliness.
Antipsychotic medications may play an important role, along with nonpharmacological interventions, to bring challenging behaviors under control. It
is important to have a long­term plan for reassessing the need to continue the agents and to attempt to taper medication therapy as possible. The
combination of poor communication skills, co­occurring mental illness, and severity of ID all contribute to the use of psychotropic medication to
control challenging behaviors. The term “chemical restraint” is the use of a medication for the primary purpose of influencing a person’s behavior,
control, or to sedate them. This process should be avoided, and instead the clinician should work to understand the person’s lived experiences and
overall health, using psychotropic medication only when consent is obtained and a plan is in place regarding using, monitoring, and eventually
discontinuing medication when possible. Prescribing medication “off­label,” or for indications that are not FDA­approved, is acceptable when
credible, peer­reviewed published scientific data are available supporting its use, the risk of prescribing the medicine do not outweigh the benefit, and
there is consent between the prescriber and patient to use the medication.

Diagnostic overshadowing is a potential cause of mis­ or under­diagnosis of mental illness in people with ID. This refers to clinicians overlooking or
minimizing the signs of psychiatric disturbances in a person with an ID, and attributing signs and symptoms of mental illness to the cause of IDD.
Another problem of diagnostic overshadowing is misinterpreting the symptoms of a somatic medical condition to that of challenging behavior or
mental illness.

DOWN SYNDROME

Down syndrome (DS) is associated with common dysmorphic features and a wide range of medical and psychiatric concerns, including a number
of developmental abnormalities. Congenital heart defects, seizure disorders, orthopedic abnormalities, sensory defects, leukemia, disorders of the
eye (eg, cataracts, glaucoma), gastrointestinal (GI) tract, immune system, skin, and thyroid gland are all associated with DS. Persons diagnosed with DS
also have a high probability of early­onset Alzheimer disease (AD) (see later section). DS is one of the most common conditions associated with IDD.
The live birth prevalence is approximately 1 in 700 live births.

ETIOLOGY
Chromosomal analysis has identified the etiology of DS as the presence of an extra chromosome 21, which has led to the alternative name of trisomy
21, as this represents one of the most studied abnormal chromosomal conditions. Chromosomes naturally divide and separate in a process known as
disjunction during meiotic division. However, in DS, the chromosomes fail to fully separate and both chromosomes remain in the same cell. The result
is an abnormal number of chromosomes on each strand. For many years, advanced maternal age has been recognized to positively correlate with an
increased risk for DS, particularly over age 35 years.

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CLINICAL PRESENTATION
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The consequences of this chromosomal variance include characteristic facial features, some degree of ID, hypotonia, an increased risk for congenital
heart disease, and early­onset AD. Individuals with DS appear to be at risk to develop depression, anxiety, and obsessive–compulsive disorder. The
Chromosomal analysis has identified the etiology of DS as the presence of an extra chromosome 21, which has led to the alternative name of trisomy
21, as this represents one of the most studied abnormal chromosomal conditions. Chromosomes naturally divide and separateofinNew
University a process known
England as
­ Maine
disjunction during meiotic division. However, in DS, the chromosomes fail to fully separate and both chromosomes remain in the
Access Provided by:same cell. The result

is an abnormal number of chromosomes on each strand. For many years, advanced maternal age has been recognized to positively correlate with an
increased risk for DS, particularly over age 35 years.

CLINICAL PRESENTATION
The consequences of this chromosomal variance include characteristic facial features, some degree of ID, hypotonia, an increased risk for congenital
heart disease, and early­onset AD. Individuals with DS appear to be at risk to develop depression, anxiety, and obsessive–compulsive disorder. The
differential diagnosis for mood disorders in all patients with DS should include an evaluation of thyroid function, as the clinical signs and symptoms of
hypothyroidism and dementia can mimic some features of depression. The prevalence of hyperthyroidism in people with DS is estimated at 39% to
51%. In a study of older Medicare beneficiaries with DS in California, 40% were identified as having dementia. Comorbid conditions were more
numerous among those with dementia compared to those with DS without dementia, especially among those younger than 65 years. These conditions
included hypothyroidism, anemia, seizure disorder, and weight loss.

CLINICAL PRESENTATION: Down Syndrome

Diagnostic Features

Facial features can suggest DS, but an additional diagnostic evaluation is necessary.

Degree of ID ranges from mild to severe.

Growth delays are common.

Common Physical Characteristics

Hypotonia can be evident at birth.

Facial features include flat nasal bridge and profile, with up­slanted eye folds.

The palate can be narrow and the neck thick and broad.

Hands are characteristically short and broad.

Other Clinical Concerns

Comorbidity with mental illness, challenging behaviors, and self­injurious behavior.

An increased risk for congenital heart problems; a cardiac evaluation is generally done shortly after birth with periodic follow­up.

Congenital cataracts, hearing and sight problems, and hypothyroidism are common.

Leukemia may occur in early childhood.

Features of AD can present by the third or fourth decade.

TREATMENT
Desired Outcomes

Treatment goals in DS are to identify medical and psychiatric comorbidities, set realistic goals, and provide effective social, environmental,
nonpharmacologic, and pharmacologic interventions to improve the quality and length of life.

General Approach to Treatment

Medical screenings in patients with DS should assess for hypothyroidism, cardiac problems, sensory impairments (including hearing loss secondary to
chronic otitis media with effusion or vision defects due to congenital cataracts or glaucoma), and GI problems (including constipation and celiac
disease). Guidelines
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care of adults with DS are also available and routine screenings are also recommended
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throughout the course of life to address psychosocial changes, potential residential or vocational stressors, and the consequences of aging.

Nonpharmacologic Therapy
nonpharmacologic, and pharmacologic interventions to improve the quality and length of life.
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General Approach to Treatment

Medical screenings in patients with DS should assess for hypothyroidism, cardiac problems, sensory impairments (including hearing loss secondary to
chronic otitis media with effusion or vision defects due to congenital cataracts or glaucoma), and GI problems (including constipation and celiac
disease). Guidelines for health supervision and anticipatory guidance in infants, children, and adolescents with DS are available through the American
Academy of Pediatrics (AAP). Guidelines for the medical care of adults with DS are also available and routine screenings are also recommended
throughout the course of life to address psychosocial changes, potential residential or vocational stressors, and the consequences of aging.

Nonpharmacologic Therapy

The use of social supports for both individuals with DS and their family may help in the development of functional adaptive skills and therefore the
fulfillment of the potential for the person with DS. Family education and support network development can assist caregivers by providing tools and
resources necessary to more effectively manage persons with DS, allowing these persons to achieve their full potential.

Depressive Symptoms and Challenging Behaviors

All mental health treatment modalities available to the general population also apply to those with DS, with nonpharmacologic options for depression
including psychotherapy and electroconvulsive therapy (ECT). Information on the effectiveness of ECT in the DS population is limited to case reports. If
communication skills are adequate, psychotherapy may also be an option with treatment strategies including psychodynamic and cognitive behavior
therapy (CBT). While the applicability of psychotherapy can vary with the level of ID, for persons with mild intellectual impairment and depression, this
treatment modality may be beneficial. These current behavioral therapy models are more effective in addressing specific problematic behaviors rather
than the underlying emotional problems of persons with ID. Furthermore, the extent to which these strategies translate to persons with DS and more
severe ID is not known.

Pharmacologic Therapy

Depressive Symptoms

Pharmacotherapy for the treatment of depression in patients with DS follows guidelines used in the general population. For more information on the
treatment of depression, see Chapter 92, “Depressive Disorders.” Features of depression commonly seen in persons with DS, in order of frequency,
include apathy, disordered sleep, and changes in weight. Difficulty identifying depression in this population is impacted by the level of cognitive
impairment, the ability to express abstract concepts (eg, helplessness or hopelessness), and the level of adaptive functioning and health care provider
familiarity with patients with DS. Clinical trials focused specifically on this population are few, and most information has been based on small studies
or case reports. Efficacy with SSRIs and amitriptyline is reported in the DS population.

As with the treatment of depression in the general population, the medication trial is of appropriate dose and duration before deeming the patient to
be a non­responder. Furthermore, ruling out comorbid medical conditions that could contribute to depression is essential.

Challenging Behaviors

People with IDD are prescribed psychotropic medications at a rate higher than the general population, which is not only due to an increase in the
diagnosis of psychiatric illness within this population, but also because of challenging behaviors not always associated with psychiatric illness. The
most common class of medication dispensed is antipsychotics. The use of psychotropic medication in adults living in group homes is high compared to
living in parent/family homes with the primary reason for use being behavioral issues. Other factors included having restrictions in opportunities to
make choices. In many cases, persons with IDD who take antipsychotic medication do not have a mental health diagnosis on any medical record.
Adverse effects of psychotropic medications are common in this population, which may be difficult to discern due to communication barriers. Not only
are symptoms reported, but quality of life is lower in patients with adverse events related to medication. A high incidence of movement­related adverse
events is prevalent in adults with IDD taking psychotropic medications.

Medication management for challenging behaviors or SIB, using risperidone for example, may be effective in both adults and children, with other
second­generation antipsychotics having limited evidence to support their use. In general, antipsychotic medication has been used to treat aggression;
however, the rationale for the use of these medications is generally lacking. Aggression is a component of a challenging behavior. Similar to SIB,
risperidone is the only medication with some evidence to support its use for aggressive behaviors. There are no reliable data to support
antidepressants, other antipsychotic or antiseizure medications for the treatment of aggression. Before prescribing medication, clinicians should
complete an in­depth assessment of the behaviors and consider nonmedication­based management options as part of the plan.
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Sleep Disorders
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Obstructive sleep apnea rates are estimated at 50% to 75% in the DS population. Daytime drowsiness and problematic behaviors may be indicative of
both an affective disorder, such as depression, and a medical condition secondary to DS. A comprehensive evaluation, including the impact of obesity
second­generation antipsychotics having limited evidence to support their use. In general, antipsychotic medication has been used to treat aggression;
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however, the rationale for the use of these medications is generally lacking. Aggression is a component of a challenging behavior. Similar to SIB,
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risperidone is the only medication with some evidence to support its use for aggressive behaviors. There are no reliable data to support
antidepressants, other antipsychotic or antiseizure medications for the treatment of aggression. Before prescribing medication, clinicians should
complete an in­depth assessment of the behaviors and consider nonmedication­based management options as part of the plan.

Sleep Disorders

Obstructive sleep apnea rates are estimated at 50% to 75% in the DS population. Daytime drowsiness and problematic behaviors may be indicative of
both an affective disorder, such as depression, and a medical condition secondary to DS. A comprehensive evaluation, including the impact of obesity
on sleep, is needed prior to the addition of pharmacotherapy. However, before adding new medication, the medication list for each patient should be
carefully reviewed for potential medication interactions and medication–disease contraindications. More information regarding sleep disorders, in
general, can be found in Chapter 96, “Sleep Disorders.”

ALZHEIMER DISEASE IN DOWN SYNDROME

Persons with DS are at greater risk for AD with increased age, with the proportion of the population affected doubling every 5­year period through
60 years old. Approximately half of people with DS at age 60 have Alzheimer associated dementia.

ETIOLOGY
Neuritic plaques and neurofibrillary tangles are the hallmarks of AD. In addition, a gene for amyloid­β precursor protein is located on chromosome 21,
which may potentially explain the close relationship between DS and AD regardless of age, gender, and level of ID. While the severity of ID has been
theorized to significantly impact the incidence of AD, study results are inconclusive, and the level of ID may limit evaluation. A more extensive
discussion of the pathophysiology of AD is beyond the scope of this chapter; more information can be found in Chapter 77, “Alzheimer’s Disease.”

CLINICAL PRESENTATION
In adults with DS, challenging behaviors, such as aggression, loss of previous skills, and disinhibition, may mark a prodromal presentation of AD.
Changes in mood and emotional stability may also present. Assessing changes in functionality and cognition is problematic in this population,
particularly in those with greater intellectual impairments. Early studies in this population did not specify the diagnostic criteria used for identification
of probable or possible AD. Baseline neurocognitive and behavioral status must be assessed and documented beginning at the age of 40 years, and
annually thereafter. To meet the diagnostic criteria, the following are needed: baseline functioning data to assess change, functionality changes not
explained by general aging, and progressive decline. Accurate diagnosis requires use of an appropriate assessment scale for those with DS, such as the
Dementia Scale for Down Syndrome and the Cambridge Examination for Mental Disorders of Older People with Down Syndrome and Others with
Intellectual Disabilities. In persons older than 40 with DS, behavior changes are the primary features of the early stages of dementia. Changes may be
seen prior to onset with higher frequencies of fear, sadness, and overall behavioral regression. Diagnostic criteria for AD include changes in memory,
language skills, and activities of daily living. In addition, major functional declines may include behavioral disinhibition, stereotypic or ritualistic
behavior, and/or apathy. Risk factors for AD in those with DS include age, genetics, gender, estrogen, multimorbidity, and metabolic syndrome,
although information has been limited in some areas. Information on the natural progression of cognitive changes in those with DS and AD continues
to emerge. It is important to rule out other causes for changes, such as hypothyroidism, found more commonly in persons with DS compared to the
general population. Screening for hypothyroidism should be done regularly, with treatment guided by standard thyroid function studies.

TREATMENT
Desired Outcomes

The therapeutic goal of treatment is to maintain functioning and quality of life close to baseline for as long as possible. Approaches to therapy for
persons with DS combined with AD include nonpharmacologic and pharmacologic interventions. As with the general population with AD, treatment of
AD for those with DS is multimodal and includes the available treatments and supports in order to maintain functionality for as long as possible.
Chapter 77, “Alzheimer’s Disease” outlines the treatment of AD in the general population, and this chapter specifically discusses AD in a patient with
DS.

Nonpharmacologic Treatments

Traditionally, this population receives some level of residential living supports in either the family home, supported living environment, or a residential
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facility. Including the caregiver along with the patient with DS in assessment and treatment decisions is important to obtain a complete clinical and
Chapter e97: Developmental Disabilities, Steven R. Erickson Page 8 / 24
home­life assessment.
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Pharmacologic Treatments
Chapter 77, “Alzheimer’s Disease” outlines the treatment of AD in the general population, and this chapter specifically discusses AD in a patient with
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DS.
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Nonpharmacologic Treatments

Traditionally, this population receives some level of residential living supports in either the family home, supported living environment, or a residential
facility. Including the caregiver along with the patient with DS in assessment and treatment decisions is important to obtain a complete clinical and
home­life assessment.

Pharmacologic Treatments

Pharmacologic treatments neither cure nor stop the pathologic changes associated with AD. The goals of pharmacotherapy in persons with DS and AD,
as in the general population of AD patients, are to slow the decline in cognitive function and help preserve activities of daily living to the greatest extent
possible. Donepezil, starting in lower doses, has been somewhat effective. The use of cholinesterase inhibitors and an N­methyl­D­aspartate receptor
antagonist memantine in the DS population has been studied. Although limited trial data exist related to the use of memantine in the DS population
over age 40 years, results from a smaller prospective randomized double­blind trial did not find treatment or control group improvements for
cognition and functional abilities. In fact, both groups declined.

The use of rivastigmine has shown some success, and a small study found transdermal patches for Alzheimer dementia in adults with DS found similar
results to oral therapy. Patch­related adverse effects included erythema, rash, tinnitus, and diarrhea. Problems specific to this population included
one participant repeatedly removing the rivastigmine patch, which was then followed by marked progression of the disease rendering
pharmacotherapy unnecessary. Furthermore, small studies using memantine, all of which target different pathways and receptors, have also failed to
show improved cognition in this population.

While additional information regarding the pharmacotherapy of AD can be found in Chapter 77, “Alzheimer’s Disease” preexisting medical
comorbidities, such as congenital heart defects, or concomitant pharmacotherapy may limit the use of cholinesterase inhibitors in persons with DS.
Clinicians are encouraged to monitor patients receiving cholinesterase inhibitors for commonly reported adverse medication effects and the potential
for medication interactions.

The recently approved anti­amyloid monoclonal antibodies target the beta­amyloid in the brains of patients with Alzheimer’s disease. People with DS
were not included in the studies to approve the drug, even though they have a genetic predisposition to early onset brain amyloid accumulation and
high risk for developing Alzheimer’s. The reasons are multifactorial, including appropriateness of assessment measures and polices that restrict
access to payment for these expensive medications based on age and other factors. Various advocacy and professional agencies are advocating for
inclusion of persons with DS in future clinical trials.

A potential neurologic comorbidity of concern in the DS population with AD is seizures. Although seizure activity may increase with age, the
distribution of seizure onset is trimodal, with the first peak incidence appearing before 1 year of age and predominantly consisting of infantile spasms.
The second peak occurs between the ages of 20 and 30 years old and the final peak corresponds to the onset of Alzheimer­related dementia.
Advancing age and a diagnosis of DS are independent risk factors for seizures. Therefore, monitoring for new­onset seizure activity and medicating
with antiseizure medications, as appropriate, are essential. Seizures can impair cognitive functioning, particularly if not well controlled. More
information about seizure disorders, in general, can be found in Chapter 79, “Epilepsy.”

EVALUATION OF THERAPEUTIC OUTCOMES

Baseline functioning must be established early in adult life prior to the onset of AD, which generally begins to occur during the fourth decade of life.
This can be particularly crucial in individuals without expressive language skills. Follow­up evaluations should be performed before age 40 years (at
least once) then annually. If cholinesterase inhibitors are used, evaluations every 2 to 4 months (after achieving a maintenance dose) are
recommended to monitor for effectiveness if the anticipated gains have not been observed. Monitoring for potential medication­related adverse
effects, including diarrhea, nausea, vomiting, insomnia, and headache, is also essential.

Assessment of therapeutic outcomes for those with DS starts with a thorough multidisciplinary evaluation to establish a baseline problem list,
identification of clear therapeutic goals, and valid pharmacotherapeutic rationale to guide medication dosing and adverse medication effect
monitoring. An in­depth list of treatment targets, both subjective and objective, is important in persons with DS to assist in evaluation of medication
response. Careful monitoring for emergence of potential adverse medication reactions should be regularly conducted and documented as part of
ongoing assessment of medication effectiveness and to ensure that adverse medication reactions are not a contributing factor to behavioral changes.

AUTISM SPECTRUM DISORDER

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Chapter e97: Developmental Disabilities, Steven R. Erickson Page 9 / 24
Autism spectrum disorder (ASD) is a behaviorally defined pervasive developmental disorder (PDD), which includes autistic disorder, Asperger’s
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disorder, or PDD not otherwise specified. These disorders are grouped together and referred to as autism, or ASD by the Diagnostic and Statistical
Manual of Mental Disorders, Fifth Edition (DSM­5). This section focuses specifically on ASD, which is generally characterized by persistent deficits in
identification of clear therapeutic goals, and valid pharmacotherapeutic rationale to guide medication dosing and adverse medication effect
University of New England ­ Maine
monitoring. An in­depth list of treatment targets, both subjective and objective, is important in persons with DS to assist in evaluation of medication
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response. Careful monitoring for emergence of potential adverse medication reactions should be regularly conducted and documented as part of
ongoing assessment of medication effectiveness and to ensure that adverse medication reactions are not a contributing factor to behavioral changes.

AUTISM SPECTRUM DISORDER

Autism spectrum disorder (ASD) is a behaviorally defined pervasive developmental disorder (PDD), which includes autistic disorder, Asperger’s
disorder, or PDD not otherwise specified. These disorders are grouped together and referred to as autism, or ASD by the Diagnostic and Statistical
Manual of Mental Disorders, Fifth Edition (DSM­5). This section focuses specifically on ASD, which is generally characterized by persistent deficits in
social communication and social interaction across multiple contexts as well as restricted, repetitive patterns of behavior, interests, or activities.
Symptoms must be present in the early developmental period and cause clinically significant impairment in social, occupational, or other important
areas of functioning. The disturbances are not explained by intellectual disability or global developmental delay. The severity of ASD is based on the
level of support required for social communication impairments and the degree to which restricted, repetitive patterns of behavior impair functioning.
Autism is not a disease but a neurodevelopmental disorder with multiple possible etiologies. The onset is typically younger than 3 years of age and is
usually, but not always, associated with some degree of ID. Different than other disorders, the use of both person first and identify first language are
both considered acceptable as has been confirmed by multiple organizations and advocacy groups.

EPIDEMIOLOGY
There has been a recent increase in the reported prevalence of ASD, with the most recent national estimate being 1 in 36 children 8 years of age. The
reported increased prevalence is primarily related to changing and broadening diagnostic criteria, along with an increased index of suspicion, rather
than by an actual increased incidence, as ASD is behaviorally identified, and the diagnostic boundaries are not always clear. In addition, inclusion of
individuals diagnosed with Asperger’s disorder and PDD­NOS in newer studies may also be contributing to the increase. Some behaviors (eg,
stereotypies) seen in persons with ASD can also be seen in individuals without ASD. There is a significant impact of intellectual ability on the expression
of ASD symptoms, which results in a lack of homogeneity in clinical expression of the condition. A recent meta­analysis describes the male:female ratio
to be closer to 3:1. When present, ID ranges from mild to severe.

ETIOLOGY
The etiology of ASD is attributed to multiple causal factors, including gene mutations, abnormalities in brain development, and genetic–environment
interactions. Autism may occur concomitantly with other developmental disorders that have a known genetic basis such as fragile X syndrome, Rett
syndrome, and tuberous sclerosis. Current research primarily focuses on genetics and neuropathology. Although a single genetic mutation or variant
leading to ASD is yet to be identified, research findings indicate that structural alterations in the genome DNA, may be involved. Autism may occur
concomitantly with a seizure disorder and may be associated with gene defects that are also risk factors for schizophrenia and attention­
deficit/hyperactivity disorder (ADHD).

Siblings of affected children have a significantly greater risk of having ASD (3%­18.7%) than those in the general population. Additionally, children
born to older parents appear to be at higher risk for ASD.

While genetics plays a role in the development of ASD, environmental exposures, including toxic chemical exposure, teratogens, perinatal insults,
prenatal infections, medications such as valproic acid have been investigated. Immunization with measles/mumps/rubella vaccine has been
investigated, and no causal association has been identified. Well­conducted case­control cross­sectional ecological and cohort studies investigating
the use of thimerosal, an organomercury compound previously used as a vaccine preservative, found no causal association between thimerosal­
containing vaccines and the development of ASD or deficits in neuropsychological function. Receiving the MMR vaccine (measles­mumps­rubella) has
not been associated with an increased risk of ASD. The neurotoxic effect of mercury exposure continues to be a hotly debated issue among many
advocates for persons with ASD, although there is no support for its use. Clinicians must be well informed on this issue to educate parents and
caregivers.

PATHOPHYSIOLOGY
ASD may be considered a condition that results from overall brain reorganization beginning early in development. There may be alterations in
cerebellar structure and connectivity, limbic system abnormalities, and frontal and temporal lobe cortical alterations. ASD may also be conceptualized
as a disordering of long­distance cortical and subcortical under­connectivity with compensatory poorly formed shorter circuit over­connectivity. This
may lead to enhanced attention on simple stimuli.
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Furthermore, dysfunction of virtually all neural systems in the brain has been proposed at some point as a potential basis of ASD. These changes
Chapter e97: Developmental Disabilities, Steven R. Erickson Page 10 / 24
suggest that ASDHill.
©2025 McGraw affects a functionally
All Rights diverse
Reserved. and widely
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• Privacy Policy Noticesystems, making the disorder far broader in scope than a simple
• Accessibility
social interaction disorder.
 University
ASD may be considered a condition that results from overall brain reorganization beginning early in development. There may be of alterations
New Englandin ­ Maine
cerebellar structure and connectivity, limbic system abnormalities, and frontal and temporal lobe cortical alterations. ASD may also be conceptualized
Access Provided by:

as a disordering of long­distance cortical and subcortical under­connectivity with compensatory poorly formed shorter circuit over­connectivity. This
may lead to enhanced attention on simple stimuli.

Furthermore, dysfunction of virtually all neural systems in the brain has been proposed at some point as a potential basis of ASD. These changes
suggest that ASD affects a functionally diverse and widely distributed set of neural systems, making the disorder far broader in scope than a simple
social interaction disorder.

There is also research to support the hypothesis that abnormalities in cholinergic receptors and decreases in the nicotinic receptor binding in the
cholinergic system, as well as dysfunction in the GABAergic system, may exist in persons with ASD. Other hypotheses of ASD include functional deficits
or changes in serotonergic, glutamatergic, GABAergic, dopaminergic, cholinergic, and opiate brain systems.

Taken all together these studies outline the many differing and often contradictory hypothesis regarding the pathogenesis of ASD.

CLINICAL PRESENTATION
A multiple­step process has been suggested as a structured approach to differential diagnosis of suspected ASD. As a spectrum disorder, the severity
or level of impairment within each of these features may be highly variable. Therefore, this structured approach includes a determination of
intellectual function and level of language development, followed by assessment of the child’s behavior as it relates to chronologic age, mental age,
and language age. It is important to identify relevant comorbid medical conditions and the presence of any related contributing psychosocial factors.

CLINICAL PRESENTATION: Autism Spectrum Disorder

General

Individuals typically present with delays or abnormalities in social communication/interaction as well as restricted, repetitive patterns of
behavior, interests, or activities.

Diagnostic Features

Significant impairment in nonverbal communications.

Unable to develop peer relationships.

Lack of spontaneous interactions with people or the environment.

Developmental delays in communication.

Inability to use expressive language appropriate to developmental level.

Lack of developmentally appropriate play.

Stereotypical or nonfunctional ritualistic behavior.

Inability to tolerate change.

Stereotypic or repetitive, nonfunctional motor movements.

Limited scope of play or interest.

Between 2% and 21% of those with ASD also have comorbid seizures, which may increase the risk for greater intellectual impairments. Other medical
comorbidities commonly reported in this population include sleep disturbances, food intolerances, and GI dysfunction. Persons with Down syndrome,
Williams syndrome, and fragile X syndrome may have a greater likelihood of having ASD.

The cardinal features of ASD include sustained impairment of reciprocal social interaction, sustained abnormalities in verbal and nonverbal
communication skills, and restricted, repetitive, and stereotypical patterns of behavior, interests, and activities. These are primarily manifested as gaze
aversion, little/no interest in making friends, preference for solitary activities, repetition of words/phrases, monotone voice, insistence on sameness,
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is an associated diagnosis of ID, ranging from mild to profound. A few individuals with ASD have
Chapter
unusual abilities called splinter functions or islets [Link].
e97: Developmental Disabilities, Steven EricksonThe most significant of these are evidenced in the autistic savant, in which Page
the 11 / 24
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individuals can have precocity in mathematic calculations, art, music, or rote memory.

In many instances, parents note that they were concerned about the child’s lack of interest in social interactions since birth, but were sure at least by 3
comorbidities commonly reported in this population include sleep disturbances, food intolerances, and GI dysfunction. Persons with Down syndrome,
University of New England ­ Maine
Williams syndrome, and fragile X syndrome may have a greater likelihood of having ASD.
Access Provided by:

The cardinal features of ASD include sustained impairment of reciprocal social interaction, sustained abnormalities in verbal and nonverbal
communication skills, and restricted, repetitive, and stereotypical patterns of behavior, interests, and activities. These are primarily manifested as gaze
aversion, little/no interest in making friends, preference for solitary activities, repetition of words/phrases, monotone voice, insistence on sameness,
and a lack of awareness of other’s feelings. There is an associated diagnosis of ID, ranging from mild to profound. A few individuals with ASD have
unusual abilities called splinter functions or islets of precocity. The most significant of these are evidenced in the autistic savant, in which the
individuals can have precocity in mathematic calculations, art, music, or rote memory.

In many instances, parents note that they were concerned about the child’s lack of interest in social interactions since birth, but were sure at least by 3
years of age. Original findings of behaviors suggesting the need for an intellectual evaluation included lack of babbling, pointing, or other gestures by
12 months, no single­word language development by 16 months, no two­word language development by 24 months of age, and loss of previously held
language or social skills at any age. Earlier intervention is recommended when the early signs and symptoms of ASD are recognized.

It is difficult to determine if ASD is present in persons with severe to profound ID; therefore, a diagnosis is made in such cases when there are
qualitative deficits in social and communicative skills and the specific behaviors characteristic of ASD are present. A key central difference between ID
and ASD is that persons with ID alone typically relate to adults in a manner consistent with their mental age, use their language to communicate with
others, and present with a relatively even profile of impairments without splinter functions.

Although there are no definitive biologic markers for identifying individuals with ASD, a number of developmental screening tools, observations, and
medical evaluations should occur at baseline, to assist in distinguishing the diagnosis as ASD and to rule out other disorders. Parent and clinician
completed instruments such as the “Screening Tools for Autism in Toddlers and Young Children.” Table e97­1 delineates the parameters to be
considered in a medical evaluation for persons suspected of having ASD and the rationale for the assessment.

TABLE e97­1
Medical Screening for Individuals with Autism Spectrum Disorder

Parameter Rationale

Health, medical, behavioral, and Perform initial screening or confirm diagnosis; identify underlying cause; assess strengths and weaknesses; identify
developmental history comorbidities; measure head circumference; identify resources needed

Hearing and vision testing Profound hearing loss can illicit symptoms mimicking ASD (receptive language deficits); most are normal

Heavy metal testing Perform if there is a history of malnutrition, recurrent vomiting, early onset seizures, dysmorphic features, presence
of ID or developmental delays

Genetic testing for karyotype, Benefits family for genetic counseling purposes; evaluation of siblings, if applicable; review family history for three
fragile X, Rett syndrome generations

Test for inborn errors of Indicated in those with a history of lethargy, recurrent vomiting, early seizures, dysmorphic or coarse facial features,
metabolism/metabolic testing ID

CBC, thyroid function testing CBC if anemia suspected; thyroid function tests to rule out baseline thyroid abnormality that can affect
mood/activity level

EEG Evaluate neurologic findings that cannot be explained by the diagnosis of ASD alone or in the presence of
developmental regression, particularly language

Neuroimaging Evaluate neurologic findings that cannot be explained by the diagnosis of ASD alone; identify specific
neuropathological changes associated with ASD, including brain volume

CBC, complete blood count; EEG, electroencephalograph.

Autistic children with a high­IQ can make positive changes in communication and social domains more effectively over time. The areas less likely to
improve are those
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In addition to theHill.
coreAllsymptoms
Rights Reserved.
of ASD, manyTerms of Use
persons • Privacy
with Policyexhibit
this disorder • Notice • Accessibility
other significant challenging behaviors, such as aggression toward
self and others. These behavioral issues can interfere with day­to­day activities and are challenging for the individual, families, and caregivers.
Community inclusion for autistic persons leads to more fulfilled lives that includes housing, jobs and day programs, social and recreational
 Neuroimaging Evaluate neurologic findings that cannot be explained by the diagnosis of ASD alone; identify specific
neuropathological changes associated with ASD, including brain volume University of New England ­ Maine
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CBC, complete blood count; EEG, electroencephalograph.

Autistic children with a high­IQ can make positive changes in communication and social domains more effectively over time. The areas less likely to
improve are those related to ritualistic and repetitive behaviors.

In addition to the core symptoms of ASD, many persons with this disorder exhibit other significant challenging behaviors, such as aggression toward
self and others. These behavioral issues can interfere with day­to­day activities and are challenging for the individual, families, and caregivers.
Community inclusion for autistic persons leads to more fulfilled lives that includes housing, jobs and day programs, social and recreational
opportunities.

TREATMENT
Desired Outcomes

Treatment goals in persons with a diagnosis of ASD are to maximize their ability to lead a full self­directed life through person­centered approaches
to care and support. This includes addressing deficits in communication and social interaction using a structured approach and minimizing the impact
of restricted behaviors (eg, stereotypies or repetition) appropriate to the level of intellectual ability, language development, and chronologic age. The
multimodal treatment plan should address: (a) establishing realistic goals for educational efforts, (b) identifying the presence of behavioral target
symptoms for intervention, (c) prioritizing target symptoms and comorbid conditions for intervention, (d) using specific methods of outcome
monitoring of functional domains (eg, behavioral skills, adaptive skills, academic skills, social interaction skills, communication skills), and (e)
monitoring for efficacy and potential adverse effects of medication (if used). The National Institutes of Health (NIH) suggests that evidence­based
treatment strategies include the use of both psychoeducational therapies and medications. An effective, well­designed, multimodal treatment plan
that is consistently executed has the most potential to positively shape how an individual with ASD interacts with the environment and improve their
quality of life and that of their families and caregivers.

After a thorough diagnostic evaluation, treatment planning for the individual with ASD is critical to ensure consistency and efficacy of interventions.
With the often­severe nature of the behavioral and adaptive problems, many potential treatment modalities lacking results have been proposed for
persons with ASD. The two treatment approaches for ASD with evidence­based support and clinical consensus are behavioral/psychoeducational
therapies and psychoactive medication intervention as appropriate. All stakeholders (family, educators, caregivers, clinical professionals, and the
patient) should be involved in the treatment planning process, and decisions should be evidence­based and individualized to the specific identified
needs of the individual. The potential for communication deficits often limits self­reporting of psychopathology. A multifaceted approach to
information gathering should include direct observation; interviews with patient, parents, family, caregivers, and teachers; and review of the medical
record, including any behavioral rating scale information.

Nonpharmacologic Therapy

Appropriately designed, consistently implemented educational services positively impact the acquisition of social, communicative, self­care, and
cognitive skills, each of which facilitates the person’s long­term success. Services, such as occupational therapy, physical therapy, and speech
pathology, are often integral aspects of an overall educational plan. Because of the pervasive need for sameness in routine, ongoing and consistent
year­round educational programming is more effective than intermittent, episodic interventions. Effective language and communication training can
lead to generalized improvements in social skills and repetitive behaviors, and thus positively impact other nonspecific maladaptive behavioral
problems such as noncompliance, self­injury, and aggression.

Intervention strategies, such as discrete trial training, improve challenging behaviors. Educational techniques include structuring the environment,
family training, peer role modeling, and sensory integration to optimize environmental interactions. Applied behavior analytic interventions have
funding to support utilization by people with ASD, primarily pediatric patients.

Pharmacologic Therapy

Evidence­based therapy for ASD is limited to the treatment of co­occurring behaviors or diagnosis, and not ASD itself. No medications have
demonstrated efficacy for the core symptoms of ASD. Many of the studies of psychopharmacologic interventions in persons with ASD have
methodologic shortcomings, including problems in experimental design and sample size, poorly defined diagnostic criteria, and many clinical
outcomes that were limited in duration or of dubious clinical significance. Among a number of scientifically unsupported treatments for ASD is the use
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medicine. [Link]
and alternative therapies are commonly used. Elimination diets in which casein (from dairy
Chapter
products) and/or gluten (from wheat products) are R.
e97: Developmental Disabilities, Steven Erickson
excluded
Page 13 / 24
from the diet have no benefit. Other such purported therapies include omega­3 fatty
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acids and selected herbal remedies, specifically ginkgo biloba. However, controlled trials have no significant differences between omega­3 and ginkgo
biloba supplementation compared to placebo.
Pharmacologic Therapy
University of New England ­ Maine
Evidence­based therapy for ASD is limited to the treatment of co­occurring behaviors or diagnosis, and not ASD itself. No medications
Access Provided by: have
demonstrated efficacy for the core symptoms of ASD. Many of the studies of psychopharmacologic interventions in persons with ASD have
methodologic shortcomings, including problems in experimental design and sample size, poorly defined diagnostic criteria, and many clinical
outcomes that were limited in duration or of dubious clinical significance. Among a number of scientifically unsupported treatments for ASD is the use
of complementary and alternative medicine. Supplement and alternative therapies are commonly used. Elimination diets in which casein (from dairy
products) and/or gluten (from wheat products) are excluded from the diet have no benefit. Other such purported therapies include omega­3 fatty
acids and selected herbal remedies, specifically ginkgo biloba. However, controlled trials have no significant differences between omega­3 and ginkgo
biloba supplementation compared to placebo.

Current research on the neurobiologic basis of ASD is centered on the serotonergic, peptidergic, dopaminergic, and noradrenergic systems. This
research has particular applications for insomnia in ASD, as the prevalence of sleep disorders has been reported to range from 44% to 83%. Parents
commonly rate sleep disturbance as a significant clinical issue. As with patients without ASD, it is important to determine the underlying etiology of the
sleep problem. Behavioral interventions (eg, improved sleep hygiene, eliminating maladaptive sleep habits, and parental education) should be
undertaken prior to implementing pharmacotherapy. No medication is approved by the FDA for pediatric insomnia. While controlled trial data are
limited, there is support for the use, of melatonin as it has been reported to improve sleep, and specifically, result in shorter sleep onset latencies.
When used in ASD, doses range from 0.75 to 6 mg and adverse effects are mild (eg, headaches, GI upset, dizziness). Chapter 96, “Sleep Disorders”
outlines the treatment of sleep disorders in greater detail.

Aggression to self and others and severe tantrums are a concern, particularly with adults with ASD. In addition to inclusion of nonpharmacologic
interventions, pharmacotherapy is frequently utilized. Despite limited evidence­based support, psychoactive medications have been widely used to
minimize the frequency and intensity of these behaviors. Clinicians must identify and carefully monitor specific behavioral target symptom response to
avoid the practice of overprescribing psychoactive medications.

Antipsychotics

An association between dopamine dysregulation and increased aggression, including self­injury, consistent with animal models, has been proposed.
Such findings have led to the use of antipsychotic agents, that act as dopaminergic antagonists, to address aggression and SIB. The first­generation
antipsychotic agent with highest short­ and long­term safety and efficacy is haloperidol. Target behaviors included impaired learning, anger, mood
lability, hyperactivity, and social withdrawal. Although antipsychotic treatment resulted greater improvement in the target behaviors compared with
the placebo group, the risk for the development of dyskinesias is high, therefore the newer second­generation antipsychotics are preferred over first­
generation agents.

As few psychopharmacologic agents have been well studied in this population, and even fewer have received FDA approval, current research has
focused on the second­generation antipsychotics. Off­label use of FDA­approved medications (ie, use of an approved medication for an unapproved
use) is an acceptable clinical practice when there is evidence­based support for the use of the medication and informed consent is obtained; however,
there is a relative lack of robust research in this area at the present time.

Aripiprazole and risperidone are FDA approved to treat the behavioral (eg, irritability) symptoms associated with ASD. Both short­ and long­term use of
orally administered aripiprazole, dosage range of 2 to 15 mg/day, was effective for irritability in pediatric patients with ASD. Aripiprazole related
adverse medication reactions resolved with continued use. Weight gain was reported during the first 3 to 6 months, plateauing thereafter. Risperidone
has the most evidence­based support for treating behavioral problems associated with ASD and is FDA­approved for treatment of SIB, aggression,
temper tantrums, and irritability in children and adolescents with ASD. The efficacy of risperidone in the treatment of irritability associated with ASD
was established in several short­term (6­8 weeks), placebo­controlled trials in children and adolescents (aged 5­17 years) who met the DSM­IV criteria
for ASD. Significant improvements in outcomes measures such as the Aberrant Behavior Checklist (ABC) and the Clinical Global Impression­Change
(CGI­C) scale were seen. Short­term studies also have some success in reducing repetitive behavior, aggression, irritability, and overall behavioral
symptoms in adults with ASD. The use of olanzapine is supported by limited trial data in children and adolescents with ASD but is not approved for
pediatrics. Aripiprazole reduces irritability, but its behavioral effects have not been examined adequately.

The second­generation antipsychotic agents are less likely to elicit extrapyramidal adverse medication reactions than first­generation agents due to
more potency at serotonin 2A (5­HT2A) receptors versus dopamine receptors. However, the second­generation agents have been implicated in weight
gain in some persons with ASD. The potential serum prolactin elevation related to risperidone use is of concern as this may lead to amenorrhea,
galactorrhea, and osteoporosis in females and gynecomastia and sexual dysfunction in males. The minimum degree of prolactin elevation that is
clinically relevant is uncertain, as are the implications for long­term use in a pediatric population. If detected, strategies include evaluating the risk–
benefit with continued use, reducing doses, or changing to another agent with less impact on prolactin. Clinicians must monitor for the evidence of
potential risperidone­mediated
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is [Link]
antipsychotic
Chapter e97: use and the monitoring
Developmental of adverse
Disabilities, Steveneffects can be found in Chapter 91, “Schizophrenia.”
R. Erickson Page 14 / 24
©2025 McGraw Hill. All Rights Reserved. Terms of Use • Privacy Policy • Notice • Accessibility
Selective Serotonin Reuptake Inhibitors
more potency at serotonin 2A (5­HT2A) receptors versus dopamine receptors. However, the second­generation agents have been implicated in weight
University
gain in some persons with ASD. The potential serum prolactin elevation related to risperidone use is of concern as this ofto
may lead New England ­ Maine
amenorrhea,
galactorrhea, and osteoporosis in females and gynecomastia and sexual dysfunction in males. The minimum degreeAccess Provided by:
of prolactin elevation that is
clinically relevant is uncertain, as are the implications for long­term use in a pediatric population. If detected, strategies include evaluating the risk–
benefit with continued use, reducing doses, or changing to another agent with less impact on prolactin. Clinicians must monitor for the evidence of
potential risperidone­mediated prolactin elevations regardless of whether a prolactin level is obtained. Additional monitoring recommendations for
antipsychotic use and the monitoring of adverse effects can be found in Chapter 91, “Schizophrenia.”

Selective Serotonin Reuptake Inhibitors

Serotonin synthesis differs between children diagnosed with ASD and children without this diagnosis. The use of selective serotonin reuptake
inhibitors is often associated with a decrease in some of the core behavioral symptoms such as stereotypies, social withdrawal, and rigid adherence to
routine. Citalopram, escitalopram, fluoxetine, and fluvoxamine have limited support for use of SSRIs to address anxiety, depression, and challenging
behaviors of ASD. There is no FDA­approved medication for the core symptoms of ASD. Prior to the inclusion of pharmacotherapy for behavior as a
component of the plan, utilization of a multifaceted approach is recommended.

Psychostimulants

ADHD is the most common comorbidity in people with ASD (28.2%). Psychostimulants have been studied in persons with ASD to address hyperactivity,
impulsivity, inattention, and ADHD. The largest and most rigorously controlled trial of methylphenidate involved 72 participants, with 74% having a
primary diagnosis of ASD. In this placebo­controlled trial, methylphenidate was given in divided doses of 0.125, 0.25, and 0.5 mg/kg (morning and noon
doses) with 16 participants not being able to tolerate the 0.5 mg/kg dose phase. All three doses performed better than placebo on improving the core
symptoms of ADHD, with the medium dose performing better than the low dose according to the parent and teacher ratings. A meta­analysis showed
that methylphenidate was associated with a reduction in hyperactive and impulsive behavior. The doses used in this trial were generally lower since
the patients with ASD were unable to tolerate the higher doses commonly used in ADHD patients. In terms of adverse medication reactions, irritability
and stereotypic behaviors, GI complains, and sleep disturbances are seen with the higher doses. Another agent, atomoxetine, has been reported to
significantly reduce hyperactivity in small trials with a moderate level of adverse effects similar to methylphenidate. The treatment response to
psychostimulants varies. The α2­agonists, clonidine and guanfacine, have also been used to treat hyperactivity and agitation in persons with ASD
because of their pharmacologic effects on noradrenergic release and transmission. Both agents have FDA approval for treating symptoms associated
with ADHD; however, as with many psychoactive medications used in the ASD population, there is a lack of methodologically sound studies supporting
use of these agents. Guanfacine has shown outcomes when used for the targeted symptoms of inattentiveness and hyperactivity, with global
improvements being noted in one. Therefore, aggressive behavior, sleep disturbances, and anxiety may respond to α2 adrenergic receptor agonists
with common adverse effects including drowsiness, fatigue, and decreased appetite (Table e97­2). The response to methylphenidate and atomoxetine
is less than what is typically observed in patients without ASD, while the response to guanfacine for hyperactivity was greater. On the other hand,
adverse effects are more common for guanfacine, while atomoxetine may be better tolerated. N­acetylcysteine, functioning as an antioxidant by
increasing production of glutathione, may beuseful in reducing hyperactivity and irritability.

TABLE e97­2
Common Psychotropic Medications Used in Down Syndrome and Austin Spectrum Disorders

Medication Indications Target Common Adverse Medication Reactions

Symptoms

Second­Generation Antipsychotics

Risperidone Self­injurious behavior, Irritability, Sedation, drowsiness, medication­induced extrapyramidal

Aripiprazole aggression, temper tantrums, aggression reaction
irritability Aberrant Insomnia, fatigue, parkinsonian­like syndrome, headache
social Anxiety, dizziness, drooling
(Risperidone and aripiprazole
behavior Hyperprolactinemia, weight gain, increased appetite
approved for irritability in ASD)
Increased serum total and LDL cholesterol, triglycerides,
glucose
Decreased HDL cholesterol
Vomiting, constipation, upper abdominal pain, nausea, urinary
incontinence
Tremor, nasopharyngitis, cough, rhinorrhea, fever
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Chapter e97: Developmental Disabilities, Steven R. Erickson Page 15 / 24
©2025 McGraw Hill. All Rights Reserved. Terms of Use • Privacy Policy • Notice • Accessibility
Cognitive Enhancers
with common adverse effects including drowsiness, fatigue, and decreased appetite (Table e97­2). The response to methylphenidate and atomoxetine
University of New England ­ Maine
is less than what is typically observed in patients without ASD, while the response to guanfacine for hyperactivity was greater. On the other hand,
Access Provided by:
adverse effects are more common for guanfacine, while atomoxetine may be better tolerated. N­acetylcysteine, functioning as an antioxidant by
increasing production of glutathione, may beuseful in reducing hyperactivity and irritability.

TABLE e97­2
Common Psychotropic Medications Used in Down Syndrome and Austin Spectrum Disorders

Medication Indications Target Common Adverse Medication Reactions

Symptoms

Second­Generation Antipsychotics

Risperidone Self­injurious behavior, Irritability, Sedation, drowsiness, medication­induced extrapyramidal

Aripiprazole aggression, temper tantrums, aggression reaction
irritability Aberrant Insomnia, fatigue, parkinsonian­like syndrome, headache
social Anxiety, dizziness, drooling
(Risperidone and aripiprazole
behavior Hyperprolactinemia, weight gain, increased appetite
approved for irritability in ASD)
Increased serum total and LDL cholesterol, triglycerides,
glucose
Decreased HDL cholesterol
Vomiting, constipation, upper abdominal pain, nausea, urinary
incontinence
Tremor, nasopharyngitis, cough, rhinorrhea, fever

Cognitive Enhancers

Memantine Memory, cognition Cognition Hypertension, hypotension

Donepezil Dizziness, insomnia, confusion, headache, anxiety, depression,
Rivastigmine drowsiness, hallucination, pain, aggressive behavior, fatigue,
back pain
Weight gain, weight loss (rivastigmine), diarrhea, constipation,
vomiting, abdominal pain, urinary incontinence
Cough, dyspnea

Miscellaneous

Oxytocin Aberrant social behavior Emotion Nasal discomfort (intranasal oxytocin), tiredness, irritability,
Vasopressin Social behavior, recognition diarrhea
communication Eye gaze

Melatonin Sleep disorder Dizziness, enuresis, excessive daytime somnolence, headache,

nausea, insomnia, nightmares, and transient depression

Methylphenidate Treatment of attention­ Hyperactivity, Insomnia, headache, irritability

Atomoxetine deficit/hyperactivity disorder inattention Decreased appetite, xerostomia, nausea, early morning
Clonidine (ADHD) awakening
Guanfacine Drowsiness and fatigue (clonidine, guanfacine)
N­Acetylcysteine

Miscellaneous Agents
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Vasopressin,
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• Accessibility
receptors are highly expressed in the amygdala, hippocampus, and nucleus accumbens, and play a role in behaviors, bonding, and parental care.
Short­term studies of intravenous and intranasal administration of oxytocin showed decreased repetitive behaviors and enhanced social cognition in
 Guanfacine Drowsiness and fatigue (clonidine, guanfacine)
N­Acetylcysteine University of New England ­ Maine
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Miscellaneous Agents

Vasopressin, which is thought to influence social behavior, is a closely related hormone to oxytocin. Physiologically the oxytocin and vasopressin
receptors are highly expressed in the amygdala, hippocampus, and nucleus accumbens, and play a role in behaviors, bonding, and parental care.
Short­term studies of intravenous and intranasal administration of oxytocin showed decreased repetitive behaviors and enhanced social cognition in
patients with ASD; however, more recent work on intranasal oxytocin provides inconclusive results. Research into the use of vasopressin continues.

The current dearth of evidence­based psychopharmacologic and behavioral research in persons with ASD is being addressed by a network of NIH­
funded research centers, including the research units including the research units of the Autism Centers of Excellence (ACE) Program, the National
Institute of Child Health and Human Development, and multiple other federal agencies and center. The mission of these units is to foster well­
controlled, multicenter, behavioral, and psychopharmacologic intervention studies targeting behavioral symptoms in persons with ASD.

EVALUATION OF THERAPEUTIC OUTCOMES

Monitoring the safety, efficacy, and tolerability of psychopharmacologic interventions in persons with ASD is imperative to minimize adverse
medication­related sequelae and optimize desired therapeutic outcomes. Clinical investigators have used a variety of psychometric assessment
instruments in attempts to measure changes in core symptoms such as communication impairment, restricted interests, repetitive, compulsive,
ritualistic, or perseverative behaviors, irritability, hyperactivity, and variants of self­injurious behavior. While a comprehensive review of many of these
instruments is beyond the scope of this chapter, the Aberrant Behavior Checklist consists of 54 items divided into five domains: irritability,
hyperactivity, stereotypic behavior, lethargy, and inappropriate speech. This checklist was designed for assessment of behavioral changes in
institutionalized individuals enrolled in pharmacotherapy trials; however, a community­based version is also available. In addition, the Children’s Yale­
Brown Obsessive Compulsive Scale modified for PDDs is a validated scale sensitive to changes in repetitive behavior severity pretreatment and
posttreatment.

Intensive monitoring for medication­related adverse effects is critical for individuals with ASD, as self­reporting can be unreliable. Therefore, a
caregiver­rated instrument, such as the Monitoring of Side Effects Scale, can be useful for this purpose as it is a multisystem, quantitative, and
qualitative caregiver assessment that rates the presence or absence and severity of a variety of potential medication­related adverse effects for
clinician review. Signs and symptoms are written in layperson language and are listed by body area or system. As such, it is a broad­based screening
tool that can be enhanced by side effect–specific scales such as those for akathisia (eg, Barnes Akathisia Scale), extrapyramidal effects (eg, Simpson­
Angus Scale), or tardive dyskinesia (eg, Dyskinesia Identification System: Condensed User Scale [DISCUS]).

Use of second­generation antipsychotics has been associated with increased risk of developing metabolic syndrome. Children, and adults,
receiving these agents should be monitored for hyperglycemia, dyslipidemia, and weight gain in a manner consistent with the consensus guidelines
suggested by the American Diabetes Association and the American Psychiatric Association. For monitoring guidelines, see Chapter 91,
“Schizophrenia.” In the United Kingdom, the NHS England has produced guidelines for clinicians to consider when prescribing psychotropic
medications for persons with IDD. The STOMP project provides guidance to healthcare professionals, patients, and caregivers about the role of
psychotropic medications for the treatment of mental illness and/or behaviors that challenge, implementation, and eventual deprescribing of these
medications.

CONCLUSION
Psychotropic medications can be effective for the treatment of mental health conditions for people with IDD. Medication therapy must be coupled with
other psychological therapies when a psychiatric disorder is confirmed by comprehensive assessment. Psychotropic medications should be used
carefully for people with IDD and with their consent, as there is increased risk of adverse medication interactions due to a high prevalence of
polypharmacy, the patient having atypical responses to psychotropic therapy, and the inability of a person with IDD to describe the harmful or
distressing effects of psychotropic therapy other than through changes in behavior. One must remember that when assessing an individual with IDD
who is exhibiting mental illness or challenging behaviors, physical­related problems may be underlying. For example, a person with minimal verbal
communication may exhibit challenging behavior when experiencing pain from an underlying undetected tumor or broken bone. A complete
examination and history taking, including information from caregivers who work with the person, is necessary in order to make an accurate diagnosis
and recommendation for treatment.

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KEY RESOURCES
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KEY RESOURCES
distressing effects of psychotropic therapy other than through changes in behavior. One must remember that when assessing an individual with IDD
who is exhibiting mental illness or challenging behaviors, physical­related problems may be underlying. For example, a person of
University with minimal
New verbal
England ­ Maine
communication may exhibit challenging behavior when experiencing pain from an underlying undetected tumor or broken bone.
Access Provided by:A complete

examination and history taking, including information from caregivers who work with the person, is necessary in order to make an accurate diagnosis
and recommendation for treatment.

KEY RESOURCES

KEY RESOURCES

Administration for Community Living. The Link Center. Bridging I/DD and Mental Health Systems.
[Link]

On this page, you will find information on therapies and treatments effective in supporting people with I/DD, brain injuries, or other
cognitive disabilities and a mental health condition. Some therapies focus on conversation with a professional like CBT or DBT, while other
therapies engage the body like psychodrama, breath­work, or EMDR. Individuals and supporters can explore resources on different
treatment options to find which best fit an individual’s specific needs, communication methods, and cultural preferences.

Resources for Integrated Care: Resources for Plans & Providers for Medicare­Medicaid Integration. Intellectual and Developmental Disabilities
and Behavioral Health: Leveraging Person­Centered Approaches.

This webinar explores how traditional silos of care can impede a comprehensive approach to care coordination and potential solutions to
improve behavioral health condition management among persons with intellectual and developmental disabilities (I/DD) who are dually
eligible for Medicare and Medicaid. [Link]
disabilities­and­behavioral­health­leveraging­person­centered­approaches/

“Healthcare for Adults with Intellectual and Developmental Disabilities. Toolkit for Primary Care Providers.” [Link]

The IDD Toolkit website provides information for the primary care of adults with intellectual and developmental disabilities. The Toolkit
offers health care providers best­practice tools and information regarding specific medical and mental and behavioral health concerns,
including resources for patients and families.

ABBREVIATIONS

AAP American Academy of Pediatrics

ABC Aberrant Behavior Checklist

AD Alzheimer disease

ADHD attention­deficit/hyperactivity disorder

ASD autism spectrum disorder

CBT cognitive behavior therapy

CGI­C Clinical Global Impression­Change

DD developmental disability

DISCUS Dyskinesia Identification System Condensed User Scale

DNA deoxyribonucleic acid

DS Down syndrome

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ECT electroconvulsive therapy
 including resources for patients and families.
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Access Provided by:

ABBREVIATIONS

AAP American Academy of Pediatrics

ABC Aberrant Behavior Checklist

AD Alzheimer disease

ADHD attention­deficit/hyperactivity disorder

ASD autism spectrum disorder

CBT cognitive behavior therapy

CGI­C Clinical Global Impression­Change

DD developmental disability

DISCUS Dyskinesia Identification System Condensed User Scale

DNA deoxyribonucleic acid

DS Down syndrome

DSM­5 Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition

ECT electroconvulsive therapy

FDA Food and Drug Administration

GABA γ­aminobutyric acid

GI gastrointestinal

5­HT 5­hydroxytryptamine

5­HT2A serotonin2A

ID intellectual disability

IDD intellectual developmental disabilities

IQ intelligent quotient

NIH National Institutes of Health

PDD­NOS pervasive developmental disorder­not otherwise specified

SIB self­injurious behavior

SSRI selective serotonin reuptake inhibitor

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BIBLIOGRAPHY
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Deb S, Roy M, Limbu B. Pharmacological management of psychopathology in people with intellectual disabilities and/or autism spectrum disorder. Br
J Psych Advances 2023;29:322–33. DOI: 10.1192/bja.2022.61.
 SIB self­injurious behavior
University of New England ­ Maine
SSRI selective serotonin reuptake inhibitor Access Provided by:

BIBLIOGRAPHY

Deb S, Roy M, Limbu B. Pharmacological management of psychopathology in people with intellectual disabilities and/or autism spectrum disorder. Br
J Psych Advances 2023;29:322–33. DOI: 10.1192/bja.2022.61.

Eunice Kennedy Shriver National Institute of Child Health and Human Development. What are the treatments for autism?
[Link] Accessed June 6, 2024.

Hirota T, King BH. Autism spectrum disorder: a review. JAMA 2023;329(2):157–68. DOI: 10.1001/jama.2022.23661.

Royal College of Psychiatrists. Position Statement PS05/21: Stopping the overprescribing of people with intellectual disability, autism or both (STOMP)
and supporting treatment and appropriate medication in pediatrics (STAMP); 2021.

Tsou AY, Bulova P, Capone G, et al. Medical care of adults with Down syndrome: a clinical guideline. JAMA 2020;324(15):1543–56. DOI:
20.2002/jsms.3030.27035.

SELF­ASSESSMENT QUESTIONS
1. Which of the following deficits associated with intellectual disabilities may mask signs of psychiatric disorders?

A. Inattentiveness

B. Functional adaptations related to stress management

C. Syndrome­specific features such as hand­flapping or self­hugging

D. Receptive language skills

2. Advanced age of which direct ancestor(s) is most frequently identified as a risk factor for Down syndrome?

A. Maternal grandmother

B. Paternal

C. Maternal

D. Combined maternal and paternal

3. MJ, a 39­year­old woman diagnosed with Down syndrome and mild­to­moderate intellectual impairment, presents to psychiatric clinic
accompanied by her family. Her parents report she has become increasingly irritable over the past 6 months, more socially withdrawn, and
lethargic. The family is interested in further assessment and possibly instituting therapy. Based on this information, which would you recommend
at this point?

A. Screen for a seizure disorder

B. Screen for a cardiac event

C. Screen for possible fractures

D. Screen for hypothyroidism and depression/anxiety

4. A 5­year­old child experienced normal development until about 2 years of age when her parents noticed she did not talk as much as her peers and
did not make good eye contact with her parents. As a toddler she played with her sister, but now prefers solitary play. Parents, teachers, and
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B. Bruxism
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D. Screen for hypothyroidism and depression/anxiety

4. A 5­year­old child experienced normal development until about 2 years of age when her parents noticed she did not talk as much as her peers and
did not make good eye contact with her parents. As a toddler she played with her sister, but now prefers solitary play. Parents, teachers, and
clinicians now suspect the child meets the criteria for diagnosis of ASD. Which feature would help confirm this diagnosis?

A. Hand wringing

B. Bruxism

C. Temper tantrums

D. Restricted preferences for only certain toys and/or foods, including marked preference for sameness

5. A colleague requests a consult for a 16­year­old patient with Down syndrome recently diagnosed with bipolar disorder and started on lithium. You
state that:

A. The evidence suggests no monitoring is needed.

B. A significant causal link exists between these comorbidities.

C. Closer thyroid monitoring may be needed in this patient.

D. Renal function may be impaired in persons with Down syndrome.

6. A child with a confirmed diagnosis of ASD is in your pediatric clinic. What is the most common neurological problem in children with a diagnosis of
ASD?

A. Seizure disorder

B. Tourette disorder

C. Rett syndrome

D. Neurogenic scoliosis

7. The parent of a child with ASD complicated by extremely aggressive behaviors asks about a trial of risperidone for these challenging behaviors.
Nonpharmacologic strategies have already been implemented with limited success. You discuss this potential medication therapy with the mother
and explain that:

A. First­generation antipsychotic agents are less expensive and equally effective as second­generation agents.

B. Secretin may be a better therapeutic option for this child.

C. The parent should check for complementary and alternative medication options as these have strong support for efficacy.

D. Risperidone has the strongest evidence­based results in treating aggressive behaviors associated with ASD.

8. Early diagnosis and appropriate treatment are important for children with ASD in order to:

A. Promote maximal learning, improve behaviors/communications, and engage in recreation/social/occupational activities.

B. Implement pharmacotherapy and titrate the dose as quickly as possible.

C. Justify institutional placement for vocational training opportunities.

D. Enroll the parents and child in support groups and counseling.

9. Parents bring their 18­month­old child to your pediatric clinic. They mention the child does not enjoy playing with his/her siblings, has no interest
in his/her parents, and has not begun to speak single words. What guidance should be given to these parents?

A. Refer the family to a developmental evaluation center for a multidisciplinary workup.

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C. Refer the family to a support group for ASD.

 D. Enroll the parents and child in support groups and counseling. University of New England ­ Maine
Access Provided by:
9. Parents bring their 18­month­old child to your pediatric clinic. They mention the child does not enjoy playing with his/her siblings, has no interest
in his/her parents, and has not begun to speak single words. What guidance should be given to these parents?

A. Refer the family to a developmental evaluation center for a multidisciplinary workup.

B. Minimize their concerns due to the young age of the child and reevaluate in 6 months.

C. Refer the family to a support group for ASD.

D. Discuss neuroimaging to rule out brain pathology or injury.

10. As part of a medical workup for a child with suspected ASD, which of the following is not commonly performed?

A. Detailed medical and developmental history

B. Lead or heavy metals testing, especially if pica is present

C. Genetic testing of parents and child

D. Electrocardiography at baseline and in 6 months

11. What clinical condition associated with personality and behavior changes may present in Down syndrome adults?

A. Hypothyroidism

B. Obsessive–compulsive disorder

C. Alzheimer disease

D. Megakaryoblastic leukemia

12. When conducting a face­to­face medication regimen review of a person who has Down syndrome and mild cognitive impairment, the clinician
should:

A. Only review a written medication list and medical record since the caregivers will not be able to provide meaningful information.

B. Include the patient to the best of their ability in all lines of questioning.

C. Focus only on the psychotropic medication.

D. Educate only the caregivers when it appears that there is a deficit in understanding medication regimens.

13. A family physician asks you for a recommendation for a sleep agent for an adolescent patient who has autism spectrum disorder and is
experiencing sleep problems. Which of the following is the most appropriate recommendation to make?

A. Start zolpidem, 5 mg every bedtime, increasing to 10 mg every bedtime after 2 weeks.

B. Have the patient exercise just before bedtime to induce fatigue.

C. Assess the patient’s routine around bedtime to see if changes in activities can be made in an effort to produce a calming environment.

D. Start melatonin oral therapy immediately, as there is strong evidence that this intervention is the most effective intervention for insomnia for
people with ASD.

14. Treatment goals in persons with a diagnosis of ASD are to:

A. Maximize their ability to lead a full self­directed life through person­centered approaches to care and support.

B. Completely eliminate repetitive speech patterns.

C. Increase the IQ of the patient.

D. Ensure2025­6­30
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medication • Noticefor
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people with IDD?

A. Medication regimens tend to be more complex.

 A. Maximize their ability to lead a full self­directed life through person­centered approaches to care and support.
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B. Completely eliminate repetitive speech patterns. Access Provided by:

C. Increase the IQ of the patient.

D. Ensure the patient is prescribed at least one antipsychotic medication in order to prevent the development of new stereotypic symptoms.

15. Which of the following is not true regarding psychotropic medication regimens for people with IDD?

A. Medication regimens tend to be more complex.

B. Patients with IDD often rely on other people to manage their medications for them.

C. Patients with IDD have multiple medical problems, which lead to polypharmacy.

D. A person with IDD can usually describe harmful or distressing effects of psychotropic therapy.

ANSWERS
1. B . All answers may contribute to the masking of psychiatric disorders in people who have IDD. Diagnostic overshadowing is where the clinician
assumes a sign or symptom is related to the IDD condition when instead it may actually be the result of an underlying mental illness. People who
have IDD may not be able to communicate or that the ability to cope with stress­related concerns or anxiety, and instead will “act out” in behaviors
that may mimic those of mental illness. (Refer to the “Epidemiology” and “Challenging/Self Injurious Behavior” sections.)

2. C . Maternal age is the most consistently identified risk factor for Down syndrome, although some studies also implicate paternal age as well. (Refer
to the “Down Syndrome” section.)

3. D . Hypothyroidism is a common comorbidity in persons with Down syndrome. Anxiety and depression are also seen. As a work­up for Alzheimer’s
dementia, examining other causes for changes in behavior are warranted. (Refer to the “Alzheimer’s Disease in Down Syndrome” section.)

4. D . There are a number of social and behavioral observations that parents and teachers may see in a child who is suspected of having ASD. Focusing
excessive attention on specific objects or toys at the expense of interacting with other toys in a child’s environment is one example. (Refer to
“Clinical Presentation” in the “Autism Spectrum Disorder” section.)

5. C . People with Down syndrome have a higher likelihood of experiencing hypothyroidism compared to the general population. (Refer to the “Down
Syndrome/Clinical Presentation” section.)

6. A . Prevalence of seizure disorders in people with ASD is between 2% and 21% and is higher than the general population. (Refer to the “Clinical
Presentation” section.)

7. D . Of all the first­ and second­generation antipsychotic agents, risperidone has the strongest support for the use for controlling aggressive and
challenging behaviors in pediatric and adult patients who have ASD. (Refer to “Antipsychotics” in the “Autism Spectrum Disorder” section.)

8. A . Early diagnosis of ASD is essential to be able to engage the patient in the evidence­based behavioral programs. Patients who initiated behavioral
programs early, as well as connecting families to support services, can lead to improved outcomes. (Refer to “Nonpharmacological Therapy” in the
“Autism Spectrum Disorder” section.)

9. A . Multidisciplinary practices that include pediatricians, social workers, psychologists, and behavioral specialists can identify treatment options for
the patient and their family. (Refer to the “Clinical Presentation” section.)

10. D . Causes of ASD are still relatively unknown but many are hypothesized. As well, other childhood medical conditions may have similar symptoms
as seen with ASD. Ruling out other causes for symptoms is important to differentiate various diagnoses and to treat the causes once identified.
(Refer to the “Autism Spectrum Disorder,” Table e97­1.)

11. C . Adults with Down syndrome have a higher likelihood of developing Alzheimer disease compared to the general population. Changes in behavior,
decreased participation in normal activities, and increased irritability are hallmarks to watch for. (Refer to the “Alzheimer’s Disease in Down
Syndrome” section.)

12. B . Many patients who have mild­to­moderate cognitive impairment are able to provide meaningful information about their medication regimens
when asked in an appropriate way. (Refer to the “Patient Care Process” section.)
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C . Sleep Developmental Disabilities,
are common for peopleSteven
who R. Erickson
have Pageto23see
ASD. Initially, clinicians should inquire about the patient’s activities around bedtime, / 24
if
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changes can be made to reduce stress or activation. Medications, such as melatonin, should be tried only after nonpharmacological interventions
have failed. (Refer to “Pharmacologic Therapy” in the “Autism Spectrum Disorder” section, Table e97­2.)
11. C . Adults with Down syndrome have a higher likelihood of developing Alzheimer disease compared to the general population. Changes in behavior,
University of New England ­ Maine
decreased participation in normal activities, and increased irritability are hallmarks to watch for. (Refer to the “Alzheimer’s Disease in Down
Access Provided by:
Syndrome” section.)

12. B . Many patients who have mild­to­moderate cognitive impairment are able to provide meaningful information about their medication regimens
when asked in an appropriate way. (Refer to the “Patient Care Process” section.)

13. C . Sleep disorders are common for people who have ASD. Initially, clinicians should inquire about the patient’s activities around bedtime, to see if
changes can be made to reduce stress or activation. Medications, such as melatonin, should be tried only after nonpharmacological interventions
have failed. (Refer to “Pharmacologic Therapy” in the “Autism Spectrum Disorder” section, Table e97­2.)

14. A . Interventions for a person with ASD should be based on their functional limitations and the patient and caregivers goals and aspirations, using a
multidisciplinary team to create a plan that is continually reviewed and updated as the patient matures. (Refer to “Treatment” and “Desired
Outcomes” sections in the “the Autism Spectrum Disorder” section.)

15. D . Psychotropic medications should be used carefully for people with IDD, due to polypharmacy, atypical responses to psychotropic therapy, and
the inability for a person with IDD to describe the harmful or distressing effects of psychotropic therapy other than through changes in behavior.
(Refer to the “Epidemiology” section.)

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