Autism Spectrum Disorders

A Lecture for Physician Assistants (August 2013)
Presented by:  Susan Hepburn, Ph.D., Assoc. Professor, Depts. Of Psychiatry & Pediatrics/JFK Partners
University of Colorado School of Medicine.  e-mail:


  1. To provide future health care professionals with a succinct overview of autism spectrum disorders (ASD), including signs & symptoms at different ages and basic facts about prevalence, etiology and outcome
  2. To incorporate filmed examples of people of different ages and functioning levels who present with ASD in discussions of shared symptomology and individual differences in this complex neurodevelopmental disorder
  3. To share resources and supports to assist future health professionals in providing quality health care to patients with developmental disabilities, such as ASD

Key Points:

  1. Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is biologically based, but, at the present time, can only be identified through behavioral observation, parent report, and review of history.
  2. Symptoms:
    1. ASD is characterized by qualitative impairments in social relating, communication and range of activities and interests.
    2. Symptoms are usually evident before the age of 3 years.
    3. Neuroscience research is examining how these impairments “travel” together to form this complex behavioral presentation.
    4. Symptoms of ASD present differently at different ages and levels of intellectual functioning.
  3. Etiology: 
    1. The etiology of ASD is not yet known; however, most scientists believe that an interaction between genetic vulnerabilities and environmental exposures is probably involved in the pathogenesis of ASD. 
    2. Over the next decade, basic scientists will likely discover multiple pathways to the autism phenotype. 
    3. Similarly, behavioral scientists will likely discover different versions of how ASD presents, thus developing multiple phenotypes. 
    4. As phenotypes and pathways become more clearly delineated, scientists in the field hope to identify biomarkers of ASD, as well as targeted medical interventions to prevent and treat this complex disorder of brain development.
  4. Epidemiology:
    1. The prevalence of ASD appears to be increasing, an observation that is under extensive scrutiny worldwide.
    2.  Approximately 1 in 110 children have an ASD, according to the CDC. 
    3. The majority of persons with ASD are male; a fact which is little understood.
    4. ASD appears to be fairly universal (i.e., occurs across cultures at apparently similar rates); however there are cultural variations on how the behaviors present. 
  5. Treatment: 
    1. Currently, the best interventions we have for persons with ASD are educational, behavioral and psychological.  Families are usually actively involved in treatments.
    2. Evidence suggests that early intervention can lead to substantial gains in functioning.
    3. Studies of some medications treating some associated features have been conducted and demonstrate good effects; however, many more studies are needed, particularly in children.
    4. Medical treatments for associated features (such as sleeping and eating problems) are also being actively investigated.

Medical Definition of Autism Spectrum Disorder – From the DSM-5

Must meet criteria A, B, C, and D:

A.    Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following:

1.     Deficits in social-emotional reciprocity; ranging from abnormal social approach and failure of normal back and forth conversation through reduced sharing of interests, emotions, and affect and response to total lack of initiation of social interaction,

2.     Deficits in nonverbal communicative behaviors used for social interaction; ranging from poorly integrated- verbal and nonverbal communication, through abnormalities in eye contact and body-language, or deficits in understanding and use of nonverbal communication, to total lack of facial expression or gestures.

3.     Deficits in developing and maintaining relationships, appropriate to developmental level (beyond those with caregivers); ranging from difficulties adjusting behavior to suit different social contexts through difficulties in sharing imaginative play and  in making friends  to an apparent absence of interest in people

B.    Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least two of the following:

1.     Stereotyped or repetitive speech, motor movements, or use of objects; (such as simple motor stereotypies, echolalia, repetitive use of objects, or idiosyncratic phrases). 

2.     Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change; (such as motoric rituals, insistence on same route or food, repetitive questioning or extreme distress at small changes).

3.     Highly restricted, fixated interests that are abnormal in intensity or focus; (such as strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).

4.     Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment; (such as apparent indifference to pain/heat/cold, adverse response to specific sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects).

C.    Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities)

D.    Symptoms together limit and impair everyday functioning.



Adapted from Hepburn, S. (2012).  Overview of Autism Spectrum Disorders.  Guidelines for the Educational Identification of Autism Spectrum Disorders; Colorado Department of Education.

Autism spectrum disorder (ASD) refers to a behaviorally defined neurodevelopmental disability characterized by qualitative impairments of social reciprocity, nonverbal and verbal communication and flexibility in thoughts and actions.  Recently described as a “disconnectedness syndrome” (Geshwind & Levitt, 2008) ASD is considered to be a biologically-based condition involving differences in how parts of the brain and nervous system interact and develop over time. 

Although biological in nature, the exact causes are not yet known.   At the present time, there is no medical test for ASD, and the only available way to tell if a child has an ASD is to look for a certain pattern of gaps or unevenness in the development of social interaction, communication and restricted patterns of activities and interests relative to the child’s overall developmental level.

An ASD is a “spectrum disorder”. That means ASD affects each person in different ways, and can range from very mild to severe.  People with an ASD share some similar symptoms, such as problems with social interaction, but there are differences in when the symptoms start, how severe they are, and the exact nature of the symptoms.  Therefore, the overall presentation will vary from child to child.

ASDs begin before the age of 3 and last throughout a person’s life, although symptoms may improve over time.  Some children with an ASD show hints of future problems within the first few months of life.  In others, symptoms might not show up until 24 months or later.  Some children with an ASD seem to develop normally until around 18 to 24 months of age and then they stop gaining new skills, or they lose the skills they once had.  (Center for Disease Control, March 2012)

The way in which a particular child with ASD presents is likely to differ depending on:

For most children, symptoms arise in the first three years of life.  Most parents report being concerned around 16-24 months, usually becoming worried about a lack of development of language.  Approximately 30% of toddlers with ASD go through a brief period during the second year of life where they no longer use words they once had, or where they do not seem to be gaining new words and communicative skills (Ozonoff et al, 2001).

While individuals with ASD can improve markedly over time, there is no known cure for this set of conditions.  Early intervention can improve both developmental functioning and the quality of life for the individual and his or her family (Eikeseth, Smith, Jahr, & Eldevik, 2007; Howlin, 2008; Rogers & Vismara, 2008). The most effective interventions at the present time are educational, behavioral, and communicative (Cochrane Report, 2010).

Most individuals with ASD face one or more additional challenges, including learning disabilities, psychiatric conditions, difficulties with sleeping and eating, regulating behaviors, and difficulty attending in an appropriate way.  Researchers are also investigating co-occurring medical conditions, which have been observed in some individuals with this complex condition, such as immune system irregularities, endocrine disorders, neurological conditions (such as seizures), and gastrointestinal di   sorders. (See Coury, 2010 for review).

There are three core areas of development that are central to an ASD: 

Impairments in social reciprocity (i.e., spontaneous ability to engage in back-and-forth social interactions with a variety of people in a variety of situations).  Some children with ASD may appear as “aloof” or “in their own world”. They may persist in avoiding social contact with unfamiliar people in a manner that cannot be explained by shyness or fear.  Others may seem socially interested, but have a very passive style, appearing to not know how to start or maintain interactions with others.  Alternately, some appear socially active and engaged in the flow of interactions, but their social style is experienced by others as “one-sided”, “awkward”, or “intrusive”.  For many children with ASD, interacting with adults (particularly familiar and/or responsive adults) is much easier than playing with other kids.  For many of these children, it isn’t until school entry when their social challenges become apparent.

Lack of communicative competence (i.e., the child’s ability to send and receive messages to others in a fluid and integrated manner).  This core category includes delayed or disordered speech, integration of nonverbal behaviors into attempts to communicate (such as using a coordinated eye gaze, pairing gestures with sounds, using an appropriate voice tone and maintaining an appropriate proximity to others when communicating), as well as communicating for a range of social purposes (such as maintaining a conversation, asking for assistance, sharing observations and information).  For some highly verbal children with ASD, speech develops typically, however, learning how to communicate with others in a socially appropriate way can be challenging.  This aspect of communication is referred to as pragmatics and is considered an educationally relevant aspect of adaptive behavior.

Repetitive activities and restricted interests (i.e., the child may demonstrate a strong preference for familiarity, routines, and an insistence on sameness in activities and behaviors).  This core category can be evident through repetitive motor behaviors (such as hand-flapping or jumping and pacing), repetitive play with objects (such as lining up toys but not really playing “with” them). There may also be a “driven” desire for specific routines and/or rules to be followed, or an intense preoccupation with one interest, toy or part of an object, without really seeing the “big picture”.  “Getting stuck” or “perseverating” also describes this core category.

 “Red Flags” of ASD at Different Ages


POSSIBLE SIGNS OF ASD:  If you observe or hear about several of the behaviors listed in the relevant age range, consider referring the child for an evaluation.

Birth to 12 months


·         No babbling or fewer vocalizations with a limited range of sounds

·         No pointing or gesturing

·         “Out of sync” with caregiver

·         Doesn’t smile at people

·         Delayed response to name

·         Poor social orienting


12 to 36 months


·         No single words by 16 months

·         No spontaneous 2-word phrases by 24 months

·         Any signs of loss of language or social skills

·         Lack of response to name

·         Poor coordination of eye gaze with other communicative behaviors (such as gestures)

·         Lack of spontaneous imitation

·         Failure to follow another person’s point towards an object or event of interest

·         Lack of shared enjoyment

·         Doesn’t respond to name when called

·         Limited repertoire of play activities


3 Years

·         Doesn’t understand simple instructions

·         Doesn’t  speak in sentences

·         Doesn’t make eye contact

·         Doesn’t play pretend or make-believe games that are original/invented

·         Doesn’t show interest in playing with with other children of the same age

·         Shows interest in parts of objects instead of the whole object

·         Seems to prefer objects over people

4 Years

·         Has difficulty with fine motor skills (such as scribbling with a crayon)

·         Shows little interested in interactive games or make-believe

·         Ignores other children or responds in a limited way to people outside the family

·         Resists dressing, sleeping and/or using the toilet

·         Doesn’t seem to understand “same” and “different”

·         Doesn’t use  “me” and “you” correctly or calls self by own first name

·         Doesn’t follow 3-part commands consistently

·         If speaking in sentences:  has trouble retelling a favorite story in a way that is clearly understood by others

5 Years  


·         Doesn’t show a range of emotions or emotions don’t always seem to fit the situation

·         Shows extreme behaviors at times  (unusually aggressive, shy or sad)

·         Is often unusually withdrawn or “in his own world”

·         Doesn’t respond consistently to people, or responds only superficially

·         Tends to take things literally

·         Doesn’t play a variety of games and activities

·         Doesn’t use plurals or past tense properly

·         May drop articles or words like “the” or “an” when speaking

·         Doesn’t often try to tell others about own experiences

·         Has trouble with brushing teeth, washing hands and other hygiene routines, even though it seems like he should be able to do it

5 – 11 Years

(Elementary School)

·         Difficulty making friends with same-aged peers

·         Limited social reciprocity (i.e., spontaneous, fluid, back-and-forth social interaction, with changes in social behaviors as a result of changes in one’s social partners‘ behavior or changes in the social context – for example: smiling at others who smile at you, asking someone else a question after talking about own interests)

·         Limited understanding of social rules/conventions (i.e. may not use eye gaze during conversation or may not shift gaze away from partner, does not use gestures (hand movements) to emphasize meaning or emotions in conversation)

·         Limited understanding of other peoples’ feelings and perspectives

·         Nonverbal behaviors tend to be less well-coordinated; less “natural” and fluid

·         If verbal, language tends to be unusual (i.e., formal, repetitive, pedantic (like giving a lecture), may use made-up words, may repeat scripts – or memorized bits of dialogue heard in movies or books – to self or with others

·         Limited play skills

·         Tendency to focus on a particular interest or topic and always return to that topic

·         Strong preference for routine and predictability

·         Anxious, which may present as irritable or overly negative and/or controlling, particularly around anything new or that is a change from previous expectations and experience

·         Preoccupation with rules, fairness & justice with a very literal interpretation of events and little tolerance for ambiguity


12 – 18 years

(Middle & High School)

·         Lack of insight (particularly with regard to social relationships, social conventions, and sense of personal responsibility)

·         Discrepancy between intellectual potential and competence in self-care and personal safety

·         Difficulty understanding the nonverbal cues of others in a rapid, automatic, in-the-moment fashion

·         Unusual prosody (i.e., way of talking; refers to the rate, rhythm and volume of speech, modulation of voice to express emotion)

·         Difficulty with organization, goal setting, planning, initiation, decision making, etc. which adversely impacts school work (sometimes called problems with executive functioning)

·         Misinterpretation of the intentions of others (may be socially naïve or overly blaming)

·         Restricted range of interests and activities, characterized by impatience or disinterest when others are expressing their interests



Kristen Kaiser, Instructor/Health Outreach

Having a child with ASD or another developmental disability can involve a very complicated grief process.

What parents living with a child with ASD recommend to other families: (source:  Parent Mentoring Project, 2009).


Don’t rush the conversation; allow for pauses and thinking time.

Paraphrase or reflect what you hear from time to time.  Costa & Garmston (1993) provide these tips for paraphrasing:

                Attend fully

                Capture the essence of the message

                Reflect the essence of the message back to the speaker

                Make the paraphrase shorter than the original account

                Paraphrase what you’ve heard before asking a question

Probe gently to gain more information:  “Say a little more about….”

Empathize by identifying the emotion(s) you imagine the person might be feeling.  For example:  “It must be very tiring to have to be so “on guard” all the time; always worried he might hurt himself


For more information on Autism Spectrum Disorders, visit:

American Academy of Pediatrics

American Academy of Pediatrics Toolkit for Evaluating Children for Autism

Association of University Centers for Disabilities:  (AUCD).  In almost every state (at least in every region), there is an AUCD center, which serves as a hub for technical assistance, service, treatment and research in developmental disabilities.

In Colorado, the University Center for Disabilities is the JFK Partners program:


Autism Society of America

Centers for Disease Control Autism Awareness Campaign:  “Learn the Signs. Act Early”

National Dissemination Center for Children with Disabilities

For video clips of children with and without ASD at different ages and developmental levels, see:

For handouts for parents and colleagues about autism (fact sheets, developmental milestones, etc.), see:

For pediatrician guidance on screening for developmental conditions, see:

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