What is Autism and why is it important to you?

Autism is a complex neurodevelopmental disorder characterized by significant behavior, communication, sensory, and social difficulties. Autism is referred to as a spectrum disorder because it affects each individual differently and to varying degrees. Individuals experience differences in when symptoms emerge, how severe symptoms present, and the nature of the symptoms. With Autism Spectrum Disorder now affecting 1 in 68 children, it is likely that you will be taking care of a child or an adult with ASD. Individuals with ASD often require specialist care from neurologists, gastroenterologists, developmental and behavioral pediatricians, psychiatrists, as well as preventive care from pediatricians, family and internal medicine providers.

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How is Autism Spectrum Disorder diagnosed?

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is diagnosed by a specialist in the field of Developmental and Behavioral Pediatrics, Neurology, Psychiatry, or Psychology.  Primary care providers in pediatrics and family medicine are generally first to hear concerns from parents, or notice that a child is not developing typically.  It is extremely important to not minimalize parents’ concerns as research has shown that early treatment is the key to improved outcomes in children with Autism Spectrum Disorder.  Children with signs or symptoms concerning for ASD should be referred to a specialist for evaluation as well as referred to a local early intervention program to be evaluated for additional services, such as speech, physical, or occupational therapy.

Diagnosis of ASD typically involves taking a detailed history from the caregiver, in addition to observation of the child, and evaluation consisting of standardized assessment tools specifically designed to assist in the diagnosis of Autism Spectrum Disorder.  Inter-disciplinary teams consisting of physicians, psychologists, physical or occupational therapists, speech-language pathologists, and social workers also work together to see children with concerns of ASD.

What are some early signs/symptoms of Autism Spectrum Disorder?

  • Lack of response to name
  • Inappropriate gaze
  • Lack of pointing or sharing joint attention
  • Repetitive movements with objects, or posturing of body
  • Difficulty with changes in routine and schedule

For more information regarding diagnosis of Autism Spectrum Disorder

  • SM- 5 diagnostic criteria of Autism Spectrum Disorder
  • Autism Case Training (ACT) Web-based course

Autism Spectrum Disorder 299.00 (F84.0)

Diagnostic Criteria

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

  1. Deficits 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.
  2. Deficits 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.
  3. Deficits 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 absence of interest in peers.
    Specify current severity: Severity is based on social communication impairments and restricted repetitive patterns of behavior (See table below)

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text):

  1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
  2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat food every day).
  3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interest).
  4. Hyper- or hyporeactivity to sensory input or unusual interests 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).
    Specify current severity:  Severity is based on social communication impairments and restricted, repetitive patterns of behavior (See table below)

C. Symptoms must be present in the early developmental period (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.

E. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.

Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.

ASD Treatments

Core symptoms of ASD are those characteristics associated with the diagnostic criteria; social communication deficits, and repetitive/restricted behaviors, interests and activities. Treatments that are targeted towards these ASD core symptoms are:

  • Early Intervention – Early intervention helps build upon the strengths of a young child with ASD by figuring out how they best learn. Tailoring a teaching program to the strengths of children with ASD can help them gain the knowledge and skills they need to excel at school and later in life. Early intervention is an evidence-based best practice for children with ASD. Two approaches to Early Intervention are the Early Start Denver Model and Pivotal Response Therapy.
  • ABA (Applied Behavior Analysis) – ABA is the application of behavior analysis that modifies human behaviors, especially as part of a learning or treatment process. By functionally assessing the relationship between a targeted behavior and the environment, the methods of ABA can be used to change that behavior. ABA often consists of intensive behavioral interventions which research has demonstrated to be effective for children with ASD.
  • Social Skills Training – During adolescence and teenage years, social skills training can help kids with ASD better interact with their peers. Skills taught include initiation, repairing communication breakdowns and taking turns.Other common treatments for ASD target developmentally appropriate skill sets. While these treatments are helpful, they are not Autism specific therapies.
  • Medication Therapy – Frequently, medications are added to ASD treatment programs in order to help with behavior problems and/or mental health concerns. Medications commonly prescribed are Selective Serotonin Reuptake Inhibitors (SSRIs), Stimulants, and Antipsychotics. The FDA has approved two medications to treat irritability in ASD, these medications are risperidone and aripiprazole, both antipsychotics.
  • Occupational Therapy (OT) – Occupational therapists work with infants, toddlers, children, and youth and their families in a variety of settings including schools, clinics, and homes. Occupational therapists assist children and their caregivers to build skills that enable them to participate in meaningful occupations. Occupational therapists also address the psychosocial needs of children and youth to enable them to participate in meaningful life events, including normal growth and development, feeding, play, social skills, and education.
  • Physical Therapy (PT) – Physical therapy or physiotherapy (sometimes abbreviated to PT or physio) is a healthcare profession primarily concerned with the remediation of impairments and disabilities and the promotion of mobility, including fine and gross motor, functional ability, quality of life and movement potential.
  • Speech Therapy – Speech therapy is not considered an autism specific therapy because it addresses the fundamentals of speech and language, as opposed to the social part of communication.Alternative therapies for ASD may be Autism specific, but are not evidence-based therapies. Therefore, the medical profession cannot recommend these therapies. While a family may weigh the risks and benefits of engaging in these therapies, the medical profession should remind the family that they would be allocating resources, time and money, to something that is not evidence-based, while there are therapies that are proven to help. On the other hand, as a health care professional, you should be supportive of families and their decisions. These therapies include:
  • Cranial-Sacral Therapy – An alternative therapy focused primarily on the concept of regulating the flow of cerebrospinal fluid by using therapeutic touch to manipulate the bones of the skull. This is one type of alternative medical therapy that some families seek. Its efficacy has not been evaluated in autism.
  • Manipulative and Body-Based Therapies – A group of alternative therapies used to treat musculoskeletal pain and disability. It most commonly includes kneading and manipulation of muscles, joint mobilization and joint manipulation.
  • Many others
    Suggested Reading: Novel Treatments for Autistic Spectrum Disorders
    Levy, S.E. & Hyman, S.L. ( 2005). Novel treatments for autistic spectrum disorders. Mental Retardation and Developmental Disabilities Research Reviews, 11, 131-142. doi: 10.1002/mrdd.20062

Abstract: In no area of developmental pediatric practice is there more controversy regarding the choice of treatment than related to children with autistic spectrum disorders (ASD). Complementary and alternative medical therapies (CAM) are often elected because they are perceived as treating the cause of symptoms rather than the symptoms themselves. CAM used for autism can be divided by proposed mechanism: immune modulation, gastrointestinal, supplements that affect neurotransmitter function, and nonbiologic intervention. Secretin as a therapy for autism is discussed as an example of how a clinical observation rapidly grew to a widespread treatment before well-designed studies demonstrated absence of effect. The plausibility for behavioral effect was not substantiated by clinical studies. CAM used for treatment of autism is examined in terms of rationale, evidence of efficacy, side effects, and additional commentary. Families and clinicians need access to well-designed clinical evidence to assist them in choice of therapies.

Person First Language

Person First language identifies a person separate from their disability. A ‘disabled person’, thus becomes a ‘person with a disability’. Describing people by their diagnosis, or ‘problem’, aids in stereotypes and negative attitudes. Through emphasizing the person, and not the disability, we are avoiding the implication that the disability is the only defining characteristic.

Disability Awareness and Appropriate Language

On October 5, 2010, President Obama signed Rosa’s Law, named for Rosa Marcellino, an 8-year-old girl with Down syndrome. The law changed the phrase “mental retardation” to “intellectual disability” in federal health, education and labor policy. Many states had previously made this change. The same terminology update was included in the fifth edition of psychiatry’s Diagnostic and Statistical Manual of Mental Disorders (DSM-5) released in 2013.The Social Security Administration published a final rule to change the terminology on August 1, 2013.

Several organizations publish guides to “disability etiquette” or appropriate behavior and the preferred language to use with and about people with disabilities. Many of them prescribe people-first or person-first language, started by the Oregon-based People First self-advocacy group in 1974. Like other minority groups, however, people with disabilities do not always agree on what language and behavior are appropriate. Language preferences should come from the disability community, and these preferences will change over time.

The guidance we offer here to medical students and other healthcare providers is drawn from several sources. It focuses on awareness and respect for the individuality and dignity of persons with disabilities.

  • People with disabilities are human beings. Treat everyone the way you’d want people to treat you.
  • Do not assume that a person needs help, or that you know what type of help is needed. Ask first, clarify the help requested, and accept “no” to your offer if help is not wanted.
  • Do not assume that people who accompany a person with a disability are there solely as helpers or caregivers. As much as possible, direct your conversation to the person with the disability.
  • Instead of using handicap, handicapped or handicapped person, say disability or person with a disability.
  • Instead of saying disease or defect, substitute condition.
  • Instead of using crippled with, suffering from or afflicted with, say person who has (the condition) or person with (the condition).
  • Instead of using defective or deformed, state the condition the person has.
  • Instead of saying confined or restricted to a wheelchair or wheelchair-bound, say wheelchair user or uses a wheelchair.
  • It is unacceptable to refer to people as if they are their assistive devices, such as “talk to the wheelchair.”
  • Do not use victim. People with disabilities do not like to be perceived as victims.
  • Instead of referring to someone as normal or healthy (when used to contrast with “disabled”), describe them as nondisabled, people who are not disabled, able to walk or see, etc. Some sources list “able-bodied” as acceptable while others do not.
  • It is acceptable to refer to deafness and hard of hearing. When referring to the clinical, audiological condition, the term deaf is written with a lower case “d.” Someone with mild to moderate deafness is often described as hard of hearing.
  • When used in a cultural context, the term Deaf with an upper case “D” refers to membership within the Deaf community. Members identify with Deaf culture as a point of pride and mainly use sign languages to communicate. Members of the Deaf community typically find the term hearing-impaired offensive.
  • Some people in the autism rights movement reject person-first language and embrace the term autistic. When in doubt, feel free to ask what terms the person prefers.
  • It’s fine to use everyday language, such as “I’ll see you later” to a person who is blind, or ask a person in a wheelchair to go for a walk. Most people do not take such phrases literally.
  • If you make a mistake, apologize, correct the error, and learn from it.

Sources

National Service Inclusion Project Fact Sheet: Person-First Language and Basic Disability Etiquette. http://www.serviceandinclusion.org/ July 31, 2013.

University of Kentucky Human Development Institute. Using Person First Language. http://dental.phtmodules.net/default.aspx July 29, 2013.

U.S. Department of Justice, Office of Justice Programs, Office for Victims of Crime. Victims With Disabilities: Collaborative, Multidisciplinary First Response. Training DVD and Training Guide. March 2009; Revised January 2011. pp. 3-4. http://www.ojp.usdoj.gov/ovc/publications/infores/pdftxt/VwD_FirstResponse.pdf July 31, 2013.