Autism Spectrum Disorder Specific-Anticipatory Guidance

Case Worksheet for Learners

Case Goal
The diagnosis of autism spectrum disorder (ASD) is made on the basis of detailed information obtained from the
child’s caregivers, careful observation and assessment of the child, and the use of standardized tools designed to aid
in the diagnosis of ASD.

Key Learning Points of This Case

1. Be familiar with the basic principles regarding the diagnosis and epidemiology of ASD.
a. Describe the two domains of impairment in ASD. _____________________________________________
____________________________________________________________________________________
____________________________________________________________________________________

b. Know the currently reported estimate of the prevalence of ASD in the U.S. _________________________
____________________________________________________________________________________
____________________________________________________________________________________

c. Describe the current evidence for the genetic etiology of ASD. ___________________________________
____________________________________________________________________________________
____________________________________________________________________________________

2. Understand the diagnostic approach to evaluating a child with a suspected ASD.

a. Identify the important elements of a comprehensive history.___________________________________
____________________________________________________________________________________
____________________________________________________________________________________

b. Recognize the important features to assess when observing a child’s behavior.______________________

____________________________________________________________________________________
____________________________________________________________________________________

c. List the aspects of the physical exam that are of particular importance when evaluating for ASDs._______
____________________________________________________________________________________
____________________________________________________________________________________

d. Describe the components of a comprehensive diagnostic evaluation for ASD._______________________

____________________________________________________________________________________
____________________________________________________________________________________

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Post Learning Exercise

1. Observe and participate in a team evaluation for an autism spectrum disorder. Specific activities could include taking a
history, doing a physical exam, and observing an Autism Diagnostic Observation Schedule-2 (ADOS-2) exam.
2. Attend a genetics clinic and observe genetic counseling for the family of a child with a genetic cause of ASD.
3. For some, it may not be possible to observe an autism evaluation. Suggest residents:
• Talk to a parent of a child with ASD about getting a diagnosis.
• Interview an attending about how they introduce concerns about ASD with families.

Case Study Part I

Billy is a 3 ½ -year-old boy you are seeing for the first time in your resident practice. He was born full term following
a normal pregnancy and delivery. His newborn screen and neonatal hearing test were normal. At 18 months, he
underwent bilateral myringotomy tube placement following repeated bouts of otitis media. His mother also had
concerns that he was not speaking any words, and his doctor said, “Let’s wait and see.” A follow-up appointment
was scheduled for when he turned 2. At his 2-year well-child check, because of the history of global developmental
delay, he was referred to early intervention (EI) services.

Three months ago, Billy began attending a specialized preschool in the local school district; there, he receives
speech, physical, and occupational therapies. This is the third preschool Billy has attended. He was asked to leave
his previous schools because of behavioral problems. Billy’s mother reports that his current preschool teacher
recommended that she take him to the pediatrician given concerns about his behavior. Since he began preschool,
his teachers have reported that he is extremely hyperactive, does not follow directions, and largely ignores the
children in the class.

Billy’s mother reports that he has been in good health recently. She tells you that all of his milestones were delayed,
particularly his language. She denies any history of developmental regression. She adds that Billy has made some
nice progress since he began receiving EI services. He will now use single words like “juice” and “cookie” to make
requests. At home, Billy is a “handful,” but he will usually calm down when she turns on his favorite cartoon. She
describes him as a sweet and loving boy, but she also shares that he will have prolonged tantrums when denied what
he wants and that tantrums will often occur when they are attempting to leave their house. During these tantrums,
he will frequently bang his head and bite his hand, which frightens her. For some time now she has been concerned
that Billy does not like to play with his similar-aged cousins during family get-togethers, but she thought this was
because he was an only child and didn’t like to share. She had been eagerly awaiting his first day of preschool so
that he could spend more time around other children.

When asked about family history, Billy’s mother reports that her sister’s 7-year-old son is in special education, but
she is not sure what kind of evaluation has been done as her sister “does not like to talk about these kinds of things.”
She mentions that it has been hard for the family, and she finds Billy’s preschool reports to be embarrassing and
discouraging. She is frustrated and wants the best for Billy.

Case Authors
• Kimberly Macferran, MD, University of Arkansas for Medical Sciences
• Nili Major, MD, Albert Einstein College of Medicine, Children’s Hospital Montefiore: Yale University School of Medicine
• Jill J. Fussell, MD, University of Arkansas for Medical Sciences
• Pamela High, MD, Warren Alpert Medical School of Brown University
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Case Study Part II

At first, Billy clings to his mother, but as you continue to speak with her, he climbs down from her lap and runs around
the room touching everything in sight. When you give him a few toys to play with, he briefly inspects them, smells
them, and then throws them down. Billy spots a ball in your bag of toys. He points at it and says “ball” without
looking at you or his mother. When you toss him the ball, he laughs and makes brief eye contact with you, but then
proceeds to kick and chase the ball around the room, ignoring your efforts to engage him in play. You call his name
several times and he doesn’t answer. When his mother begins to undress him for the exam, he begins to scream
and jump up and down while flapping his hands. She says he tends to have difficulty transitioning from one activity
to another. On physical examination, Billy is at the 75th percentile for weight and height, and his head circumference
is at the 98th percentile. His ears are prominent, and he has a wide nasal bridge. He has mildly hyperextensible
joints. The remainder of his exam is within normal limits.

Case Authors
• Kimberly Macferran, MD, University of Arkansas for Medical Sciences
• Nili Major, MD, Albert Einstein College of Medicine, Children’s Hospital Montefiore: Yale University School of Medicine
• Jill J. Fussell, MD, University of Arkansas for Medical Sciences
• Pamela High, MD, Warren Alpert Medical School of Brown University

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Case Study Part III

You share your concerns about the things Billy’s mother has told you and about what you have observed during
the visit. You tell her that Billy shows some characteristics of a child with autism spectrum disorder. He exhibits
decreased eye contact, lack of joint attention, hand flapping, resistance to transitions, and atypical exploration of
objects. You recommend she take Billy for additional evaluations. Together, you agree to proceed with a referral for
a multidisciplinary evaluation for the presence of autism spectrum disorder, including an audiologic assessment. You
ask Billy’s mother to return for a follow-up appointment to ensure the evaluation is proceeding as it should.

Case Authors
• Kimberly Macferran, MD, University of Arkansas for Medical Sciences
• Nili Major, MD, Albert Einstein College of Medicine, Children’s Hospital Montefiore: Yale University School of Medicine
• Jill J. Fussell, MD, University of Arkansas for Medical Sciences
• Pamela High, MD, Warren Alpert Medical School of Brown University

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Case Study Part IV

Six months later, you review the results of Billy’s evaluation with his mother. His hearing evaluation, consisting
of behavioral audiometry and tympanogram testing, was normal. Billy’s comprehensive evaluation included
assessments by a developmental-behavioral pediatrician, a psychologist, a speech-language pathologist, and an
occupational therapist.

The report from the developmental-behavioral pediatrician details Billy’s medical history, developmental history, current
behavior, and family history, as well as findings on physical and neurological examination. According to the report, Billy
meets the DSM 5 criteria for a diagnosis of ASD. He has persistent deficits in social communication and social interaction
across contexts and he has two or more repetitive and restrictive behaviors. According to the report he has a severity level
of 2 for social communication and a severity level of 3 for restricted and repetitive behaviors and interests.

The report also mentions that blood was drawn at that visit for a karyotype and molecular test for fragile X, but
the results are still pending as Billy only saw the specialist last week. The psychologist’s report reviewed Billy’s
performance on cognitive testing and revealed below-age-level skills in all areas, with the most pronounced
weakness in the language domain.

On formal language testing, Billy’s receptive and expressive skills were at the 15-to 18-month level. The
occupational therapist’s report described Billy’s strengths and weaknesses in fine motor skills and adaptive
functioning and detailed some of his sensory issues that impacted his day-to-day life. All of the clinicians who
evaluated Billy thoroughly described their observations of Billy’s social interactions and behaviors during their
sessions. As part of the comprehensive evaluation, Billy also underwent ADOS-2 (Autism Diagnostic Observation
Schedule-2) testing, which supported the diagnosis of autism. Observations included Billy’s wanting to play with
a wind-up toy; he threw himself on the ground when the examiner tried to take the toy away. One clinician also
mentioned that when his name was called, he did not answer.

Billy’s mother informs you that she took a copy of the reports to Billy’s school. A meeting has been scheduled to re-
assess Billy’s educational plan. She has also been reading some information on autism and is looking into a parent
support group in her community. Billy’s mother tells you that two other families they know have sons with an ASD.
She asks why there seem to be so many more children diagnosed now than in the past.

Case Authors
• Kimberly Macferran, MD, University of Arkansas for Medical Sciences
• Nili Major, MD, Albert Einstein College of Medicine, Children’s Hospital Montefiore: Yale University School of Medicine
• Jill J. Fussell, MD, University of Arkansas for Medical Sciences
• Pamela High, MD, Warren Alpert Medical School of Brown University

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Case Study Part V - Epilogue

A few days later, you receive a call from the developmental-behavioral pediatrician who evaluated Billy. He informs
you that chromosomal testing was normal, but fragile X testing revealed 383 CGG repeats, consistent with a
diagnosis of fragile X syndrome. He says that he has discussed the results of the test with Billy’s mother and has
scheduled an appointment with a geneticist to address the issue of testing other family members and to discuss
possible enrollment in clinical trials.

Case Authors
• Kimberly Macferran, MD, University of Arkansas for Medical Sciences
• Nili Major, MD, Albert Einstein College of Medicine, Children’s Hospital Montefiore: Yale University School of Medicine
• Jill J. Fussell, MD, University of Arkansas for Medical Sciences
• Pamela High, MD, Warren Alpert Medical School of Brown University

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Making an Autism Spectrum Disorder Diagnosis

Handout I: Components of a Comprehensive

Evaluation for ASD
When ASD is suspected during ASD screening or surveillance:

Refer for early

Schedule Refer for
intervention/early Schedule
audiologic comprehensive
education follow-up visit
evaluation ASD evaluation
services

• Detailed history from primary caregiver

• Medical history
- Developmental history
- Behavioral history
- Family history
• Physical examination
- Growth parameters, head circumference
- General examination with special attention to skin and neurological findings
- Inspection for any dysmorphic features
• Observation of child
- Social interaction, response to name, joint attention
- Play skills
- Use of language
- Presence of atypical behaviors or stereotypies
• Developmental/psychometric testing
• Speech/language testing
• Determination of categorical ASD diagnosis using DSM criteria and a
standardized tool
- Autism Observation Diagnostic Schedule-2 (ADOS-2)
- Autism Diagnostic Interview–Revised (ADIR)
• Assessment of family’s knowledge regarding ASD, coping skills, resources,
and supports
• Medical/genetic workup as indicated by clinical picture
- High-resolution chromosomes
- Array CGH
- Fragile X testing
- Rett syndrome/MECP2 testing in girls
- Additional tests to consider include: PTEN gene analysis, EEG, metabolic studies,
neuroimaging

Macferran K, Major N, Fussell J, High P. Components of a Comprehensive Evaluation for

ASD. Developed for the Autism Case Training: A Developmental Behavioral Pediatrics
Curriculum. 2011.

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Handout II: Differential and Etiologic Diagnosis of

Autism Spectrum Disorder
Developmental delay/ Children with intellectual disability may have “autistic features,” but not meet criteria for autism spectrum disorder (ASD).
intellectual disability Children with ASD may have intellectual disability or normal intelligence. Children with intellectual disability usually have
better social and communication skills than do children with ASD with the same cognitive level.

Fetal alcohol
There is an increased risk of ASD and other neurodevelopmental disorders in children exposed to alcohol in utero.
spectrum disorders

Genetic syndrome There may or may not be a family history, depending on the specific disorder. If dysmorphic features are present, a
genetic disorder should be considered. There are certain neurogenetic syndromes that tend to be associated with ASD.
These include, but are not limited to:
• Fragile X syndrome – intellectual disability, macrocephaly, large ears, large testicles, hypotonia, and joint
hyperextensibility
• Tuberous sclerosis – hypopigmented macules, central nervous system hamartomas, seizures, intellectual disability
• Angelman syndrome – global developmental delay, hypotonia, wide-based ataxic gait, seizures, progressive spasticity
• Rett syndrome – disorder seen primarily in girls. They have apparently normal development for the first 5 months of
life and have a normal head circumference at birth. Deceleration of head growth is seen from 5 to 48 months of age
resulting in microcephaly. They lose previously acquired hand skills and begin to have hand-wringing stereotypes.
They often develop seizures.

Hearing Impairment There may be a history of recurrent otitis media or fluid. Children with hearing impairments often have speech delays, but
will typically use compensatory nonverbal forms of communication. They make eye contact and use facial expressions.
Children with ASD may be described as having “selective hearing” (i.e., may not respond when their name is called,
but are oversensitive to other noises). Children with a hearing impairment will usually be underresponsive to all noises,
although this will be somewhat variable depending on the degree of hearing loss.

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Handout II: Differential and Etiologic Diagnosis of

Autism Spectrum Disorder
Mental health This is a broad category of differential diagnoses with variable symptomatology depending on the specific diagnosis.
disorders a. Obsessive compulsive disorder (OCD) – The obsessive thoughts and repetitive actions seen in OCD can appear
very similar to the ritualistic behaviors and motor stereotypes seen in ASD.
b. Anxiety – Children who have problems with anxiety may be hesitant to interact with others. They may have
difficulties with transitions. Children with anxiety are still socially related and have appropriate social insight.
c. Depression – Depression in children can present in a variety of ways. Children may be withdrawn and isolate
themselves. They may have a blunted affect and avoid eye contact.
d. Attention deficit-hyperactivity disorder (ADHD) – Children with ADHD may have impairments in their social skills
due to their hyperactivity and impulsivity. They may have difficulty sustaining a conversation because of inattention.
Children with ASD often have problems with hyperactivity, impulsivity, and inattention.
e. Oppositional defiant disorder (ODD)/behavior problems – The behavior problems seen in children with ODD are
usually intentional. Most children will have temper tantrums at some point. Children with ASD are more likely to
have tantrums associated with transitions or “for no apparent reason.”
f. Tourette syndrome – Tics seen in Tourette syndrome may appear similar to motor stereotypes associated with
ASD. Children with Tourette syndrome will usually not have the social or communication impairments seen with
ASD. However, there may be some social isolation due to embarrassment or peer avoidance.

Psychosocial Children who have a history of significant abuse or neglect may be withdrawn and hesitant to interact with others. They
(e.g., neglect) may also have regression of skills, such as loss of language, and behavior problems.

Sensory Children with ASD often have sensory issues such as being hypersensitive to loud noises or avoiding certain food
problems textures. A child that has sensory impairments but is not on the autism spectrum will not have the core features of ASD
(impairments in social communication, etc.).

Speech/language Children with speech/language disorders will compensate with nonverbal forms of communication such as pointing and
disorder gestures. They lack severe social deficits, although there may be some social impairment due to the communication difficulties.

Suggested Citation: Macferran K, Major N, Fussel J, High P. Differential and Etiologic Diagnosis of Autism Spectrum Disorders. Developed for the
Autism Case Training: A Developmental-Behavioral Pediatrics Curriculum. 2011.

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Handout III: AAP Screening Guidelines

FIGURE 1
Surveillance and screening algorithm: ASDs.

Reproduced with permission from Pediatrics Vol. 120, Page(s) 1196-97, Copyright © 2007 by the AAP
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Handout III: AAP Screening Guidelines

Surveillance and Screening Algorithm: Autism Spectrum Disorders (ASDs)

1a - Developmental concerns, 1b – At the parents’ request, or when a concern is

1a: including those about social skill 1b: identified in a previous visit, a child may be scheduled
Pediatric Patient at deficits, should be included as one E xtra Visit for A utism - for a “problem-targeted” clinic visit because of concerns
Preventive Care R elated C oncern,
of several health topics addressed at A SD R isk Factor, or about ASD. Parent concerns may be based on
Visit each pediatric preventive care visit O ther D evelopm ental/ observed behaviors, social or language deficits, issues
through the first 5 years of life. B ehavioral C oncern raised by other caregivers, or heightened anxiety
(Go to step 2) produced by ASD coverage in the media. (Go to step 2)

2 - Developmental surveillance is a flexible, longitudinal, continuous, and cumulative process whereby health care
2:
Perform Surveillance
professionals identify children who may have developmental problems. There are 5 components of
developmental surveillance: eliciting and attending to the parents’ concerns about their child’s development,
Score 1 for Each Risk Factor: documenting and maintaining a developmental history, making accurate observations of the child, identifying the
- Sibling with ASD risk and protective factors, and maintaining an accurate record and documenting the process and findings. The
- Parental Concern concerns of parents, other caregivers, and pediatricians all should be included in determining whether
- Other Caregiver Concern surveillance suggests that the child may be at risk of an ASD. In addition, younger siblings of children with an
- Pediatrician Concern
ASD should also be considered at risk, because they are 10 times more likely to develop symptoms of an ASD
than children without a sibling with an ASD. Scoring risk factors will help determine the next steps. (Go to step 3)

For more information on developmental surveillance, see “Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for
Developmental Surveillance and Screening” (Pediatrics 2006;118:405-420).

3 - Scoring risk factors: 3a –

3: • If the child does not have a sibling with an ASD and there are no concerns 3a: • If the child’s age is <18
What is the from the parents, other caregivers, or pediatrician: Score=0 (Go to step 4) Is the Patient at months, Go to step 5a
Score? Least 18-Months
• If the child has only 1 risk factor, either a sibling with ASD or the concern of Old? • If the child’s age is ≥18
a parent, caregiver, or pediatrician: Score=1 (Go to step 3a) months, Go to step 5b
• If the child has 2 or more risk factors: Score=2+ (Go to step 8)

4 – In the absence of established risk factors and parental/provider concerns (score=0), a level-1 ASD-specific tool should be
4: administered at the 18- and 24-month visits. (Go to step 5c) If this is not an 18- or 24-month visit, (Go to step 7b).
Is this an 18- or
24-Month Visit? Note: In the AAP policy, “Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental
Surveillance and Screening”, a general developmental screen is recommended at the 9-, 18-, and 24-or 30-month visits and an ASD screening is
recommended at the 18-month visit. This clinical report also recommends an ASD screening at the 24-month visit to identify children who may regress after
18 months of age.

5a - If the child’s age is <18 5b - If the child’s 5c – For all children

months, the pediatrician should age is ≥18 months, ages 18 or 24 months
5a: 5b: 5c:
Evaluate Social-
use a tool that specifically Administer ASD- the pediatrician (regardless of risk
Administer ASD-
Communication addresses the clinical Specific Screening should use an factors), the pediatrician
Specific Screening
Skills characteristics of ASDs, such Tool ASD-specific should use an ASD-
Tool
as those that target social- screening tool. specific screening tool.
communication skills. (Go to step 6a) (Go to step 6b)
(Go to step 6a)

AAP-recommended strategies for using ASD screening tools: “Autism: Caring for Children with Autism Spectrum Disorders: A Resource Toolkit for Clinicians” (in press)*

6a:
6a – When the result of the screening is 6b: 6b – When the result of the ASD screening (at 18-
A re th e R e su lts negative, Go to step 7a A re th e R e s u lts and 24-month visits) is negative, Go to step 7b
P o sitive o r P o s itiv e o r
C o n c e rn in g? When the result of the screening is C o n c e rn in g ? When the result of the ASD screening (at 18- and 24-
positive, Go to step 8 month visits) is positive, Go to step 8

7a: 7a – If the child demonstrates risk but has a negative screening result, 7b: 7b – If this is not an
1. Provide Parental Education information about ASDs should be provided to parents. The 18- or 24-month
1. Schedule Next
2. Schedule Extra Visit Within 1
Month pediatrician should schedule an extra visit within 1 month to address Preventive Visit visit, or when the
3. Re-enter Algorithm at 1b any residual ASD concerns or additional developmental/ behavioral 2. Re-enter Algorithm at 1a result of the ASD
concerns after a negative screening result. The child will then re-enter screening is
the algorithm at 1b. A “wait-and-see” approach is discouraged. If the only risk factor is a sibling with negative, the pediatrician can inform the
an ASD, the pediatrician should maintain a higher index of suspicion and address ASD symptoms at parents and schedule the next routine
each preventive care visit, but an early follow-up within 1 month is not necessary unless a parental preventive visit. The child will then re-enter the
concern subsequently arises. algorithm at 1a.

8: 8 – If the screening result is positive for possible ASD in step 6a or 6b, the pediatrician should provide peer reviewed
1. Provide Parental Education
and/or consensus-developed ASD materials. Because a positive screening result does not determine a diagnosis of
2. Simultaneously Refer for:
ASD, the child should be referred for a comprehensive ASD evaluation, to early intervention/early childhood education
a. Comprehensive ASD Evaluation
b. Early Intervention/Early Childhood services (depending on child’s age), and an audiologic evaluation. A categorical diagnosis is not needed to access
Education Services intervention services. These programs often provide evaluations and other services even before a medical evaluation
c. Audiologic Evaluation is complete. A referral to intervention services or school also is indicated when other developmental/behavioral
3. Schedule Follow-up Visit concerns exist, even though the ASD screening result is negative. The child should be scheduled for a follow-up visit
4. Re-enter Algorithm at 1b and will then re-enter the algorithm at 1b. All communication between the referral sources and the pediatrician should
be coordinated.

AAP information for parents about ASDs includes: “Is Your One-Year-Old Communicating with You?*” and “Understanding Autism Spectrum Disorders.*”

*Available at www.aap.org

FIGURE 1
Continued

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Handout IV: DSM-5 ASD Checklist

_____ A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following,
currently or by history

A1. D
 eficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of
normal back- and- forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or
respond to social interactions.
A2. D
 eficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly
integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits
in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
A3. D
 eficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties
adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends;
to absences of interest in peers.

_____ B. Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least 2 of 4 symptoms currently or by history

B1. S tereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining
up toys or flipping objects, echolalia, idiosyncratic phrases).
B2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior
(e.g. extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need
to take same route or eat same food everyday).
B3. H ighly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or
preoccupation with unusual objects, excessively circumscribed or preservative interest).
B4. H yper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (e.g.,
apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling
or touching of objects, visual fascination with lights or movement)

_____ C. Symptoms must be present in the early developmental periods ( but may not become fully manifest until social demands
exceed limited capacities, or may be masked by learned strategies in later life)

_____ D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.
(minimum = level 1)
_____ Social Communication Severity Level (1, 2, or 3)
_____ Restricted Repetitive Behavior Severity Level (1, 2, or 3)

_____ E. These disturbances are not better explained by intellectual disability (intellectual development disorder) or global
developmental delay.

Patient meets criteria for ASD

(criteria A-E satisfied)

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Restricted Interests & Repetitive

Severity Level for ASD Social Communication
Behaviors

Severe deficits in verbal and nonverbal

social communication skills cause severe
impairments in functioning, very limited
Inflexibility of behavior, extreme
initiation of social interactions, and
difficulty coping with change, or other
Level 3 minimal response to social overtures
restricted/repetitive behaviors markedly
‘Requiring very from others. For example, a person with
interfere with functioning inall spheres.
substantial support’ few words of intelligible speech who
Great distress/difficulty changing focus
rarely initiates interaction and, when he
or action.
or she does, makes unusual approaches
to meet needs only and responds to only
very direct social approaches.

Marked deficits in verbal and nonverbal

social communication skills; social
impairments apparent even with Inflexibility of behavior, difficulty coping
supports in place; limited initiation of with change, or other restricted/
Level 2 social interactions; and reduced or repetitive behaviors appear frequently
‘Requiring substantial abnormal response to social overtures enough to be obvious to the casual
support’ from others. For example, a person observer and interfere with functioning
who speaks simple sentences, whose in a variety of contexts. Distress and/or
interaction is limited to narrow special difficulty changing focus or action
interest, andwho has markedly odd
nonverbal communication.

Without supports in place, deficits in

social communication cause noticeable
impairments. Difficulty initiating social
interactions, and clear examples of
Inflexibility of behavior causes
atypical or unsuccessful response to
significant interference with functioning
social overtures of others. May appear
Level 1 in one or more contexts. Difficulty
to have decreased interest in social
‘Requiring support’ switching between activities. Problems
interactions. For example, a person who
of organization and planning hamper
is able to speak in full sentences and
independence.
engages in communication but whose
to-and-fro conversation with others fails,
and whose attempts to make friends are
odd and typically unsuccessful

American Psychiatric Association. Pervasive developmental disorders. In: Diagnostic and Statistical Manual of Mental
Disorders. 5th ed.-text revision (DSM-5). Washington, DC: American Psychiatric Association; 2013.

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 Fragile X Syndrome
Autism Spectrum Disorder Specific-Anticipatory Guidance
FACT SHEET

What is fragile X syndrome? What conditions are common among

Fragile X syndrome (FXS) is the most common known cause children with FXS?
of intellectual disability (formerly referred to as mental Children with FXS might have learning disabilities, speech
retardation) that can be inherited, that is passed from parent and language delays, and behavioral problems such as
to child. It is estimated that FXS affects about 1 in 4,000 attention-deficit/hyperactivity disorder (ADHD) and anxiety.
boys and 1 in 6,000 to 8,000 girls. Both boys and girls Some boys can develop aggressive behavior. Depression
can have FXS, but girls usually are more mildly affected. can also occur. Boys with FXS usually have a mild to severe
intellectual disability. Many girls with FXS have normal intel-
What causes FXS? ligence. Others have some degree of intellectual disability,
The cause of FXS is genetic. FXS occurs when there is a with or without learning disabilities. Autism spectrum disorders
change in a gene on the X chromosome called FMR1. (ASDs) occur more often among children with FXS.
The FMR1 gene makes a protein needed for normal brain
development. In FXS, the FMR1 gene does not work
What can I do if I think my child has FXS?
properly. The protein is not made, and the brain does not
develop as it should. The lack of this protein causes FXS. Talk with your child’s doctor or nurse. If you or your doctor
Other Fragile X-associated Disorders (FXDs) can be present think there could be a problem, the doctor can order a blood
in the extended family, even if not currently evident. Talk with test for FXS or refer you to a developmental specialist
or geneticist, or both. Also, contact your local early interven-
a genetic counselor for more information.
tion agency (for children younger than 3 years of age) or
What are some signs of FXS? public school (for children 3 years of age or older) to find
out if your child qualifies for intervention services. To find out
Children with FXS might: whom to call in your area, contact the National Information
■ Sit up, crawl, or walk later than other children Center for Children and Youth with Disabilities at
■ Have trouble with learning and solving problems www.nichcy.org/states.htm or call the Centers for Disease
■ Learn to talk later, or have trouble speaking Control and Prevention (CDC) at 1-800-232-4636.
■ Become very anxious in crowds and new situations

■ Be sensitive about someone touching them

In addition, CDC has links to information for families at
■ Bite or flap their hands
www.cdc.gov/ncbddd/single_gene/fragilex.htm.
■ Have trouble making eye contact
Additional resources include the National Fragile X
■ Have a short attention span
Foundation (www.fragilex.org) and the FRAXA Research
■ Be in constant motion and unable to sit still
Foundation (www.FRAXA.org). CDC also supports the
■ Have seizures efforts of the Fragile X Clinical & Research Consortium
(www.FXCRC.org) which can be reached through the
Some children with FXS have certain physical
National Fragile X Foundation.
features such as:
■ A large head While there is no cure for fragile X syndrome, therapies and
■ A long face interventions can improve the lives of those affected and of
■ Prominent ears, chin, and forehead their families. It is very important to begin these therapies and
■ Flexible joints interventions as early as possible to help your child reach his or
■ Flat feet her full potential. Acting early can make a real difference!
■ Macroorchidism (enlarged testicles in males; more

obvious after puberty)

These physical features tend to become more noticeable
as the child gets older.

1-800-CDC-INFO | www.cdc.gov/actearly
33

Learn the Signs. Act Early.

Autism Spectrum Disorder Specific-Anticipatory Guidance

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34
Autism Case Training:
A Developmental-Behavioral Pediatrics Curriculum