CE 1.

5 HOURS
Continuing Education

From the CDC:

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Understanding Autism
Spectrum Disorder
An evidence-based review of ASD risk factors, evaluation, and diagnosis.

ABSTRACT: Autism spectrum disorder (ASD) is a condition characterized by impaired social communica-
tion as well as restricted and repetitive behaviors. It is considered a neurodevelopmental disorder because
it is associated with neurologic changes that may begin in prenatal or early postnatal life, alters the typi-
cal pattern of child development, and produces chronic signs and symptoms that usually manifest in early
childhood and have potential long-term consequences. In past decades, autism was conceptualized as a
strictly defined set of behaviors, usually accompanied by intellectual impairment. Today, it is recognized as
a spectrum, ranging from mild to severe, in which behaviors vary substantially and the majority of children
who fall on the spectrum have average to above average intellectual ability. Here, the authors discuss the
risk factors for ASD, its epidemiology, common concurrent conditions, evaluation, diagnosis, treatments,
and outcomes.

Keywords: autism spectrum disorder, epidemiology, impaired social communication, neurodevelopmen-

tal disorders, repetitive behaviors, risk factors, treatment

A
utism spectrum disorder (ASD) is a neuro­ RISK FACTORS
developmental disorder that typically manifests ASD etiology is not completely understood, but
in early childhood as impaired social com­ multiple factors likely contribute to ASD develop­
munication and restricted, repetitive behaviors and ment.2 Neurologic changes that result in ASD may
falls on a spectrum ranging from mild to severe.1 begin in prenatal and early postnatal life,3 and
For example, some people with ASD are nonver­ genetic factors (both rare and common variants)
bal or speak only in simple sentences, while others are a source of population variation in ASD-related
are verbally skilled but have problems with social behaviors.4, 5
communication and pragmatic language, such that Sibling recurrence risk. Studies have reported
they respond inappropriately in conversation, mis­ that roughly 15% to 20% of younger siblings of
understand nonverbal communication, or lack age-­ children with ASD meet the diagnostic criteria for
appropriate competency to establish friendships. ASD themselves.6, 7 Concordance is higher among
­People with ASD may have difficulty adapting to monozygotic compared with dizygotic twins.8, 9
changes in their routine or environment. Their inter­ Other prenatal and perinatal risk factors have
ests, which are typically intense, may be limited. Some been identified, including
display stereotyped, repetitive motor movements or • prenatal exposure to valproic acid10 or thalido­
unusual sensory responses. Current diagnostic crite­ mide,11 and rubella infection.12
ria for ASD can be found in the Diagnostic and Sta- • advanced parental age.13, 14
tistical Manual of Mental Disorders, fifth edition.1 • maternal gestational diabetes and bleeding.13

30 AJN ▼ October 2020 ▼ Vol. 120, No. 10 ajnonline.com

 By Deborah Christensen, PhD, and Jennifer Zubler, MD
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Your Child at 18 Months (1 1/2 Yrs)

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Child’s Name Child’s Age Today’s Date

Milestones matter! How your child plays, learns, speaks, acts, and moves offers important clues about his or her
development. Check the milestones your child has reached by 18 months. Take this with you and talk with your child’s
doctor at every well-child visit about the milestones your child has reached and what to expect next.

What Most Children Do by this Age: You Know Your Child Best.
Social/Emotional Act early if you have concerns about the way your child plays,
o Likes to hand things to others as play learns, speaks, acts, or moves, or if your child:
o May have temper tantrums o Is missing milestones
o May be afraid of strangers o Doesn’t point to show things to others
o Shows affection to familiar people o Can’t walk
o Plays simple pretend, such as feeding a doll o Doesn’t know what familiar things are for
o May cling to caregivers in new situations o Doesn’t copy others
o Points to show others something interesting o Doesn’t gain new words
o Explores alone but with parent close by
o Doesn’t have at least 6 words
o Doesn’t notice or mind when a caregiver leaves or returns
Language/Communication
o Loses skills he once had
o Says several single words
o Says and shakes head “no” Tell your child’s doctor or nurse if you notice any of
these signs of possible developmental delay and ask for
o Points to show someone what he wants
a developmental screening.
Cognitive (learning, thinking, problem-solving) If you or the doctor is still concerned
o Knows what ordinary things are for; for example, telephone, 1. Ask for a referral to a specialist and,
brush, spoon 2. Call your state or territory’s early intervention program
o Points to get the attention of others to find out if your child can get services to help. Learn
o Shows interest in a doll or stuffed animal by pretending to feed more and find the number at cdc.gov/FindEI.
o Points to one body part For more information, go to cdc.gov/Concerned.
o Scribbles on his own

DON’T WAIT.
o Can follow 1-step verbal commands without any gestures;
for example, sits when you say “sit down”
Acting early can make a real difference!
Movement/Physical Development
o Walks alone It’s time for developmental screening!
o May walk up steps and run At 18 months, your child is due for general developmental
o Pulls toys while walking screening and an autism screening, as recommended for all
o Can help undress herself children by the American Academy of Pediatrics. Ask the
o Drinks from a cup doctor about your child’s developmental screening.
o Eats with a spoon

www.cdc.gov/ActEarly
1-800-CDC-INFO (1-800-232-4636)

Learn the Signs. Act Early.

[email protected] AJN ▼ October 2020 ▼ Vol. 120, No. 10 31

 • neonatal complications, including low birth has narrowed in recent years, possibly as a result of
weight and small size for gestational age.15 more effective outreach directed at racial and ethnic
• preterm birth.16 minority communities and improved access to diag­
Although there’s evidence that any of these fac­ nostic services.23, 26
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tors, which can negatively affect prenatal and peri­ Other contributing factors to the recent rise in
natal health, may increase the risk of ASD, no single estimated ASD prevalence include
prenatal or perinatal factor has been found to have • changes in ASD diagnostic criteria, clinical prac­
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more than a modest association with ASD.15 Addi­ tices for identifying and diagnosing children with
tional reviews and meta-analyses of research on developmental delays, and reporting practices.27-30
ASD risk factors have been published.17-19 Research • improved access to ASD services through better
into risk factors for ASD is ongoing, including insurance coverage.30-32
through such case–control studies as the Centers for • the inclusion of children with high intellectual
Disease Control and Prevention (CDC) Study to ability and few or mild ASD symptoms.26, 28
Explore Early Development (SEED; see www.cdc. The heterogeneity of ASD prevalence estimates
gov/ncbddd/autism/seed.html). Studies have shown across geographic areas26 further supports the prem­
that there is no link between receiving vaccines and ise that regional differences in evaluation, diagnosis,
developing ASD, as is discussed in the evidence- clinical and reporting practices, and service access
based meta-analysis of case–control and cohort may affect calculated prevalence.
studies by Taylor and colleagues.20 Additional infor­ Prevalence trends by state. The CDC has
mation on vaccine safety is available from the CDC recently introduced an Autism Data Visualization
at www.cdc.gov/vaccinesafety/concerns/autism.html. Tool (see www.cdc.gov/ncbddd/autism/data), which

Diagnosing ASD can be challenging.

To date, there is no biomarker or medical test
that can distinguish those with ASD from those without.

EPIDEMIOLOGY provides information about trends in ASD preva­

Recent national surveys suggest that 2% to 3% of lence by state.
children ages three through 17 have a current or ASD in adults. The CDC does not collect preva­
­previous diagnosis of ASD.21, 22 A review of data from lence data on ASD in adults; however, a population-
2000 through 2014 on eight-year-old children in based survey of adults in the United Kingdom (UK)
selected U.S. communities by the CDC’s Autism and estimated that approximately 1% met the study
Developmental Disabilities Monitoring (ADDM) ­criteria for ASD, though most had never been for­
Network showed that ASD prevalence estimates rose mally diagnosed.33 A follow-up analysis of these
more than 150% over this period, from 6.7 per data combined with data collected from partici­
1,000 in 2000 to 16.8 per 1,000 in 2014.23 pants in the Intellectual Disability Case Register
Sex differences. CDC data show that ASD pre­va­ study found a similar combined prevalence rate
lence is four times greater in boys than in girls.23 (1.1%) among adults.34 While ASD is usually diag­
Higher prevalence among boys may be related to dif­ nosed in childhood, some people first seek diagnosis
ferences in biological susceptibility to ASD24 or to less in adulthood. Another UK study reported on 255
frequent or incomplete identification of ASD in girls adults referred to the Autism Diagnostic Research
because girls with ASD have less well-recognized Centre for neuropsychological assessment, 100 of
symptom profiles or higher intellectual ability, better whom were subsequently diagnosed with ASD.35
language skills, and perceived better social skills.25 Only four of these had a learning disability, as iden­
Racial/ethnic differences. Historically, CDC sur­ tified through the education system or a recent diag­
veillance reports had estimated higher ASD preva­ nosis (intelligence quotient [IQ] below 70). It’s not
lence among white children compared with both clear why those found to have ASD were not diag­
Black and Hispanic children, possibly because of a nosed earlier in life, but the researchers suggest that
failure to identify ASD among children across all comorbid psychiatric diagnoses, which affected 58%,
racial and ethnic groups. Although ASD prevalence may have been factors, as psychiatric conditions
estimates continue to be higher among white than such as anxiety and depression may have concealed
among Black and Hispanic children, the disparity ASD traits, delaying appropriate referral.

32 AJN ▼ October 2020 ▼ Vol. 120, No. 10 ajnonline.com

 COMMON CONCURRENT CONDITIONS at www.autismspeaks.org/family-services/tool-kits/
Although the proportion of children identified with challenging-behaviors-tool-kit.
ASD and concurrent intellectual disability has Nurses can help facilitate the coordination of
declined over time,26 suggesting improved identifica­ treatment and safety approaches to challenging
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tion of ASD in children with a high level of intellec­ behaviors across home and community settings,
tual ability, a substantial proportion of people with including schools. Children with disabilities, includ­
ASD have concurrent intellectual disability. The most ing ASD, may be at increased risk for maltreatment,
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recent CDC data indicate that nearly one-third of including neglect and physical abuse due to care­
eight-year-old children with ASD had an IQ within giver stress. Nurses should be prepared to recognize
the range of intellectual disability (70 or below).23 the signs of maltreatment and intervene when neces­
Other conditions that commonly occur with sary. The Child Welfare Information Gateway, a ser­
ASD include the following36: vice of the Children’s Bureau of the Administration
• motor abnormalities, up to 79% for Children and Families at the U.S. Department of
• attention deficit–hyperactivity disorder Health and Human Services (HHS), provides several
(ADHD), 28% to 44% resources for health care professionals on child mal­
• gastrointestinal problems, 9% to 70% treatment at www.childwelfare.gov/topics/preventing/
• sleep problems, 50% to 80% developing/collaboration/professionals.
• aggressive behavior, up to 68%
• anxiety, 42% to 56% EVALUATION AND DIAGNOSIS
• depression, 12% to 70% Diagnosing ASD can be challenging. To date, there
Associated pediatric conditions may include is no biomarker or medical test that can distinguish
­language delay, which occurs in up to 87% of three- those with ASD from those without.
year-olds with ASD,37 or language regression (for To make a diagnosis, health care professionals
example, children’s loss of their first few words or rely on
the development of severely impaired receptive– • developmental history.
expressive language).38 The risk of children with • parent, caregiver, or self-reported responses to
ASD developing epilepsy is greatest before the age questions about ASD-related behaviors.
of five and around the time of puberty and is greater • direct observations of behavior.
in children with concurrent intellectual ­disability.38 Concerns initially reported by parents or caregivers
Neuropsychological and medical conditions, of children with ASD often include
like the core features of ASD, may interfere with • language delays or unusual language usage.
health, functioning, and relationships with family • atypical social responses, such as difficulty initi­
members and peers. The complex health care needs ating and sustaining interactions with other chil­
of people with ASD are best addressed through the dren or not responding to their name being called.
medical home model of care, which is defined by • repetitive behaviors, such as resistance to change.
the American Academy of Pediatrics (AAP; see • emotional and behavioral reactivity.
https://medicalhomeinfo.aap.org/overview/Pages/ High-risk infants. Data suggest that in high-risk
Whatisthemedicalhome.aspx). It is important to infants (such as those who have an older sibling with
consider the person’s ASD and concurrent symp­ ASD), the characteristic signs of ASD, such as social
toms when conducting the history and physical communication difficulties and repetitive behaviors,
evaluation, weighing treatment plans, and coordi­ would usually become apparent between the ages of
nating referrals for medical evaluation and care.39 18 and 36 months if they too have ASD.3 However,
Risky behavioral issues. In addition to associ­ there may be prodromal behaviors that emerge in the
ated medical conditions, people with ASD, particu­ first year, including difficulties with emotional regula­
larly those with intellectual disability, may display tion,41 lack of response to bids for attention, inconsis­
risky behaviors such as self-injury (up to 50%)36 tent face gazing, and impaired motor control.3 These
and wandering, which has been reported by par­ signs may occur before the more easily recognized
ents to occur in 37.7% of children who have both signs of ASD are apparent and may go unrecognized
ASD and intellectual disability and 32.7% of chil­ by parents, caregivers, and health care providers as
dren who have ASD without intellectual disabil­ potential indications of ASD. If, however, parents or
ity.40 These behaviors may pose safety risks and caregivers raise concerns about these features with
generate considerable stress for both people with health care providers, it is important that providers
ASD and their families. The CDC provides safety take such observations seriously.
information and resources on these and other Early identification. Efforts by public, pediatric,
potential dangers facing children with special needs and other health organizations have focused on
at www.cdc.gov/ncbddd/disabilityandsafety/index. identifying children with ASD as early as possible
html. Families may also find toolkits from Autism to facilitate prompt treatment and behavioral inter­
Speaks to help them address challenging behaviors vention. CDC data have indicated that, for nearly

[email protected] AJN ▼ October 2020 ▼ Vol. 120, No. 10 33

 all children with ASD, developmental concerns • noting findings based on informed observation
were documented by age 36 months, though there of the child
has been little progress in lowering the age of first • identifying potential risks, strengths, and support­
ASD evaluation.23 In some cases, ASD can reliably ive factors in the child’s medical and life history
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be diagnosed by age two,37 though the stability of • maintaining an accurate record of the surveil­
early diagnoses depends on the experience of the lance and screening activities
diagnosing clinician. Because children with ASD • seeking input from and sharing observations and
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display both typical and atypical behaviors, an opinions with other health care professionals and
average health visit may not allow enough time to educators outside the medical home (for exam­
observe a child’s atypical behavior.42 ple, with specialty providers or preschool teach­
Recommendations of the AAP. To address the ers), with the consent of the patient or caregiver
complexity of identifying ASD at an early age, the Several online resources are available to assist
AAP recommends that all children receive ASD-­ health care providers in conducting developmental
specific screening with a standardized ASD screening surveillance and to help parents of children in their
test at ages 18 months and 24 months, or whenever practice track their child’s developmental milestones
concerns arise, and that developmental surveillance (see Developmental Surveillance Resources).
occur at each health visit.39 Nurses often play a critical role in surveillance,
Developmental surveillance, a flexible, ongoing coordination, and championing the efforts of the
process of assessment that continues as the child health care team through the following actions:
grows, involves the following steps39: • taking the developmental history
• asking parents or caregivers about concerns they • eliciting parents’ concerns
may have regarding their child’s development, • sharing observations of the child with the primary
and listening and responding to these concerns care provider
• obtaining and documenting the child’s develop­ • distributing and scoring age-appropriate screens
mental history • informing the primary care provider of screen­
ing results for discussion with the family
• submitting and following up on ordered referrals
• recognizing a pattern of early childhood devel­
Developmental Surveillance opment consistent with ASD in older children
Resources and adults, whose difficulty in developing and
maintaining friendships, communicating, and
•• Developmental Surveillance: What, Why and understanding what behaviors are expected in
How, a video for health care providers from school or on the job may suggest undiagnosed
the American Academy of Pediatrics (AAP), ASD
available at: www.youtube.com/watch?v=sceY • identifying concurrent conditions that often
LUHhgnU&feature=youtu.be affect people with ASD
•• Milestone Tracker, a free app from the Centers • referring parents of children with ASD, or adults
for Disease Control and Prevention (CDC) that with ASD that was undiagnosed in childhood,
helps parents identify their children’s devel- to services and specialists
opmental milestones and provide support at Early intervention and special education. If
every stage: www.cdc.gov/MilestoneTracker ASD risk is indicated on a validated screening tool,
•• “Learn the Signs. Act Early” materials from or if the provider or parent is concerned the child
the CDC, which include checklists and videos might have ASD despite normal screening results,
that can assist providers with developmental the child should be referred promptly for further
surveillance by encouraging parents to moni- developmental and medical evaluation as the screen­
tor their child’s development between health ing tool may have produced a false negative or the
care visits and discuss any concerns: www.cdc. child may have other developmental delays that
gov/ncbddd/actearly/milestones/index.html should be addressed.43 Children under age three can
•• Autism Diagnosis Criteria: DSM-5 from Autism be referred to the state’s early intervention program
Speaks, available at: www.autismspeaks.org/ (see www.cdc.gov/ncbddd/actearly/parents/states.
autism-diagnosis-criteria-dsm-5 html for information on early intervention). Patients
•• Identifying and Caring for Children with ages three through 21 can, through the Individuals
Autism Spectrum Disorder: A Course for with Disabilities Education Act (IDEA), receive eval­
Pediatric Clinicians from the AAP, available at: uations and services through their local school dis­
https://shop.aap.org/identifying-and-caring- trict’s special education program. Referral for further
for-children-with-autism-spectrum-disorder-a- developmental evaluation, audiological testing, and
course-for-pediatric-clinicians assessment for early intervention or special education
services can all occur simultaneously. Developmental

34 AJN ▼ October 2020 ▼ Vol. 120, No. 10 ajnonline.com

 evaluations may be completed by developmental and Resources, then Topic Areas). Children with ASD
behavioral pediatricians, child neurologists, child may be taught in a self-contained or general educa­
psychologists, and child psychiatrists. tion classroom, be placed in an inclusion classroom
that combines elements of both, or spend part of
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TREATMENT the school day in a general education classroom and

Currently, there is no curative treatment for ASD, part in a self-contained or inclusion classroom.
but interventions may reduce troubling symptoms, School nurses may play a role in a child’s treat­
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improving cognition and function, thereby maxi­ ment plan. For example, they may need to admin­
mizing the ability of people with ASD to participate ister medication or assess health problems. School
in the community. Treatment plans are usually mul­ nurses should be aware that children with ASD
tidisciplinary and tailored to the person’s unique who experience health problems may have diffi­
strengths and challenges. Some interventions are culty reporting symptoms of illness or maltreat­
parent mediated. Behavioral intervention strategies ment and may be challenged by changes in routine
often include social skills training for children and such as visiting the nurse’s office, undergoing phys­
adults and focus on reducing restricted interests and ical examination, and interacting with unfamiliar
repetitive or challenging behaviors. Occupational, staff.
speech, and sensory integration therapy may also be Support for parents. Providers can direct par­
helpful. ents of children with ASD to their state’s free parent

Currently, there is no curative treatment for

ASD, but interventions may reduce troubling
symptoms, improving cognition and function.

For providers who are inexperienced in treating support organization, which can be found on the
patients with ASD, especially adult patients, it’s website of Family Voices, a national organization
important to consider the patient’s ASD diagnosis as and grassroots network of families of children with
one of many variables that affect an individual and special health care needs (see http://familyvoices.org/
to learn how to adapt treatment to accommodate affiliates). These state- or territory-based organiza­
the patient’s strengths, challenges, and differences.44 tions link parents with local resources as well as
ADHD medications. Although no medications other parents of children with special needs or
have proven effective in treating the core symptoms developmental disabilities who reside in their com­
of ASD, some may be helpful in reducing concur­ munity. Families may seek out complementary and
rent conditions. Medications used to treat ADHD, alternative therapies and should be encouraged to
including methylphenidate (Ritalin and others), share and discuss these with their child’s provider.
atomoxetine (Strattera), and guanfacine (Intuniv),
have shown benefit in treating children who have OUTCOMES IN ADOLESCENCE AND ADULTHOOD
ASD and concurrent ADHD, though they may be Relatively little is known about how ASD affects
less effective and have more adverse effects in these outcomes in adulthood, such as level of indepen­
children than in those with ADHD alone.45-47 dence, education, employment, social relationships,
Two atypical antipsychotic medications, risperi­ community integration, and health status. While for
done (Risperdal) and aripiprazole (Abilify), have some with ASD, symptom severity decreases over
been shown in randomized controlled trials to time,50 studies suggest that outcomes are often poor,
reduce irritability or agitation in children and ado­ especially in the domain of social functioning.51 A
lescents with ASD, but patients taking these drugs 2012 analysis of data from a nationally representa­
should be monitored for adverse effects, including tive survey of young adults with ASD, as well as
weight gain and sedation.48, 49 parents and guardians, found that the overall rate
Individualized education programs (IEPs). Chil­ of paid employment following high school among
dren with ASD often have an IEP or a 504 plan young adults with ASD was 55.1%.52
through which they may receive behavioral, speech, Poorer health and shorter life spans. There is
or occupational therapy, and other services in the evidence that adults with ASD have poorer health
school setting. For information about IEPs, visit the and shorter life spans than adults without ASD.53
IDEA website at https://sites.ed.gov/idea (go to A medical record review conducted at a large

[email protected] AJN ▼ October 2020 ▼ Vol. 120, No. 10 35

 ­ orthern California health care system reported that
n Deborah Christensen is an epidemiologist at the Centers for Disease
adults with recent ASD diagnoses had higher fre­ Control and Prevention, Atlanta. Jennifer Zubler is a pediatric con-
quencies of seizures, hypertension, dyslipidemia, sultant at Eagle Global Scientific, San Antonio, TX. Contact author:
Deborah Christensen, [email protected]. The authors and planners
sleep disorders, and psychiatric conditions than sex-
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have disclosed no potential conflicts of interest, financial or otherwise.

and age-matched controls.54 Another study con­
ducted in the same health care system reported that REFERENCES
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