Previously, the Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) offered clinicians the option between diagnoses on the autism spectrum, which included childhood disintegrative disorder, Rett syndrome, autism, Asperger’s disorder, and pervasive developmental disorder not otherwise specified. In the DSM-5, published in May 2013, these separate diagnoses were collapsed into one all-inclusive diagnosis of autism spectrum disorder.
About 15% of all autism cases appear to be associated with a known genetic mutation, but there are times when that mutation is present but the symptoms of autism are not present. Risk for the remainder of cases appears to be polygenetic, with perhaps many genetic loci making relatively small contributions.
Research studies have found associations between autism and a variety of nonspecific environmental risk factors, but none of them have been shown to cause autism. Research evidence indicates that vaccines are not associated with autism.
Impairment in social communication and social interaction:
- abnormal social approach
- failure of normal back-and-forth conversation
- reduced sharing of interests, emotions or affect
- failure to initiate or respond to social interactions
Impairment in non-verbal communication for social interaction:
- poorly integrated verbal and nonverbal communication
- abnormalities in eye contact and body language
- lack of skill to understand and use gestures
- lack of facial expressions and nonverbal communication
- difficulties in sharing imaginative play or making friends
Restricted, repetitive patterns of behavior, interests, or activities:
- simple motor stereotypies (e.g., rocking or self-caressing), also known as stimming
- lining up toys or flipping objects
- echolalia (repeating what the other person said)
- idiosyncratic phrases, or unique, made-up terms to describe things (e.g., “black crunchies” for Oreo cookies)
- extreme distress at small changes, difficulties with transitions
- rigid thinking patterns
- greeting rituals
- need to take same route or eat same food every day
- strong attachment or preoccupation with unusual objects
- excessively circumscribed or perseverative interests (e.g., preoccupied with Legos)
- apparent indifference to pain/temperature
- adverse response to specific sounds or textures
- excessive smelling or touching of objects
- visual fascination with lights or movement
Diagnoses at age 2 years can be reliable, but milder cases can be challenging to detect accurately in the preschool years. One of the most difficult challenges is detecting autism in very young children. The most widely used screening instruments for autism is the M-CHAT or Modified Checklist for Autism in Toddlers. A revised version was published in 2013, the M0CHAT-R. It contains 20 yes/no items for children between 16 through 30 months of age. The M-CHAT-R was designed to be a two-stage screen, with follow-up interviews to corroborate parents’ answers on the checklists. Pediatricians can now be reimbursed for autism screening that they do in the office at well-baby checkups.
The M-CHAT-R with scoring instructions is available here:
Other challenges are detecting high-functioning autism and Asperger’s disorder, in any age group. The Sohn-Grayson rating scale, with scoring instructions, may be downloaded here:
Diagnostic Evaluations: Diagnostic evaluations should be conducted by professionals who are knowledgeable of the nuances of autism symptoms. More comprehensive evaluations, made by a team of professionals that includes a psychologist, speech therapist, and occupational therapist can provide more in-depth assessments and treatment plans. Diagnosis should include interviews with family, significant interaction with the child, and both formal testing and informal observations of the child’s behavior.
When to Refer
Children with suspected autism spectrum disorder ought to be referred to specialists as soon as possible. While autism is usually a life-long condition, improvements can often be made in specific areas such as speech, motor skills, and social skills during important developmental periods.
There are multiple treatment approaches available today for families. Evidenced based treatment approaches have been researched and found to have significant effects on the children’s behaviors. Unfortunately, autism treatments also attract several controversial forms of treatment that may have benefitted one or two children, but there is no evidence that they are helpful for all children. In an effort to do everything possible for their children, families are often tempted to spend thousands of dollars out-of-pocket on the chance that the therapies will help, only to find themselves disappointed in the end. The following are specific types of treatments that are considered best practices:
Speech Therapy: Speech-language therapy is designed to coordinate the mechanics of speech with the meaning and social use of language. The therapists set goals that may include mastering spoken language and/or learning nonverbal communication skills such as signs or gestures.
Augmentative and Alternative Communication: Nonverbal persons with autism can benefit from a variety of augmentative and alternative communicative (AAC) devices and methods. The Picture Exchange Communication System (PECS) is among the most commonly used with children and adults who have little or no verbal ability. Therapists, teachers and parents help the child or adult build a vocabulary and consistently articulate desires, observations and feelings through pictures.
Occupational Therapy: Occupational therapy (OT) addresses a combination of cognitive, physical, and motor skills. Its goals including helping children gain age-appropriate independence and participate more fully in life. For persons with autism, OT often focuses on appropriate play or leisure skills, learning, and self-care skills.
Sensory Integration Therapy: Sensory integration (SI) therapy identifies hypo- and hyper-reactivities to sensory stimuli and uses a variety of techniques to improve how individuals interpret and integrate this information. SI therapy is often performed by occupational therapists. SI therapy can allow children to become more “available” for learning and social interactions. The techniques can help calm children, reinforce positive behaviors, and help with transitions between activities.
Physical Therapy: Physical therapy (PT) focuses on problems with movement that cause real-life limitations. In particular, physical therapy can improve poor muscle tone, balance and coordination.
Applied Behavior Analysis: ABA principles and techniques can foster basic skills such as looking, listening, and imitating, as well as complex skills such as reading, conversing, and understanding another person’s perspective. It is used to increase functional skills while helping to manage challenging behavior.
Verbal Behavior Therapy: Verbal Behavior Therapy begins by teaching mands, or requests, as the most basic type of language. For example, individuals with autism learn that saying "cookie" can produce a cookie. Immediately after students make such a request, therapists reinforce the lesson and use the word again in the same or similar context.
Sleep: Many children with autism have difficulty sleeping. Some helpful tips may be found at this site called "Mattress Reviews."
Local Experts: On the Find A Provider page of the Kid Catch Directory, you can use the Issues filter box to search for local experts on autism. Clicking on this filter selection will return results of clinicians who advertise themselves as working with this problem. Kid Catch cannot guarantee that clinicians who advertise themselves this way are truly expert.
Autism Speaks www.autismspeaks.org is one of the leading autism science and advocacy organizations. Autism Speaks provides a comprehensive resource guide for all states. The site also boasts an impressive list of apps that parents may find useful, including games that focus on communication and social skills.
Autism Society of America www.autism-society.org is another site that includes helpful resources for those with autism, family members, as well as professionals. Autism Society also gives updates on the latest autism news and press releases.
- Updated September 11, 2019