There is an ongoing fascination in the world of social media with regards to certain psychiatric diagnoses. It begins with the rise of self-diagnosing, which is rampant on social media these days and ends with a lot of individuals believing they have autism, tic disorder, or dissociative identity disorder (multiple personalities). I’ve also seen a rise in my patients suggesting they have autism as an explanation for symptoms clearly caused by other disorders.
I can think of one specific example where an individual was convinced, they had autism. Later that day I observed the individual socializing with peers and staff making excellent eye contact, and all those symptoms they described in the diagnostic interview seemingly went away completely. It was clear at that point that autism was not the cause of this individual’s distress.
I feel like there is no better time to discuss autism spectrum disorders because we have a lot to clear up.
Introduction
Autism spectrum disorder (ASD) was introduced in the diagnostic and statistical manual (DSM-5) to replace the category of pervasive developmental disorders (PDD) which previously included Asperger’s disorder, Autistic disorder, and PDD not otherwise specified (NOS). You might ask, why did they change the category in DSM-5 to just autism spectrum disorder? This was thought to improve the ability to make a diagnosis of ASD while maintaining the sensitivity of its criteria. In fact, research suggests that 91% of those who met the previous criteria would meet the new DSM-5 criteria. They also grandfathered in those with a previously well-established diagnosis of Asperger’s, autistic disorder, or PDD NOS.
Epidemiology
In 2021, the CDC reported that approximately 1 in 44 children in the U.S. is diagnosed with ASD. The prevalence has been rising over the years, and this is largely thought to be related to better detection and awareness of the disorder not vaccinations or other environmental factors. ASD is 4.5 times more common in males than females. The median age when ASD is diagnosed in the U.S. is 50 months which is about 4 years of age. ASD can be found in all racial and ethnic groups although the prevalence does appear to be higher in Caucasian children.
Clinical Features of ASD
The focus in DSM-5 was in two domains and not the three domains from the prior classification. These domains are social communication impairment and restricted/repetitive patterns of behavior, and an individual must have had these symptoms in early childhood. Specifiers were added to indicate the level of impairment, level 1: requiring support, level 2: requiring substantial support, and level 3: requiring very substantial support.
DSM-5 Criteria
Persistent deficits in social communication and social interaction, as manifested by all 3 of the following:
-Deficits in social-emotional exchange: failure of back-and-forth communication, reduced sharing of interests, emotions, or affect, or failure to respond to social interactions.
-Deficits in nonverbal communicative behaviors used for social interaction: difficulty understanding facial expressions, body language, or eye contact
-Deficits in developing and maintaining relationships appropriate for the developmental level: difficulty adjusting behavior based on social context, difficult engaging in imaginative paly, or difficulty making friends
These symptoms can be seen in other disorders in the adult population including social anxiety, OCD, schizoid personality disorder, schizotypal personality disorder, avoidant personality disorder, schizophrenia, bipolar disorder, and intellectual disability. Therefore, it’s important to establish that these deficits were present at an early age.
Restricted, Repetitive Patterns of Behavior, Interests, or activities
At least two of the following must be present:
- Stereotyped or repetitive speech, motor movements, or use of objects (simple motor stereotypies, lining up toys, or repetitive use of objects).
- Insistence on sameness, inflexible adherence to routines, ritualized patterns of verbal or nonverbal behavior, or excessive resistance to change
- -Highly restricted, fixated interests that are abnormal in intensity or focus
- -Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of environment
These individuals may have a rigid greeting ritual or struggle with small changes to normal activity. I had a case where the family took a different route to school one day and child became so upset that they jumped out of a moving car. This is the level of insistence on sameness and routine that we are talking about.
Gender Impact on ASD
The prevalence of ASD is lower in females, but females are noted to have a greater impairment in social communication, lower cognitive abilities, and more difficulty externalizing problems than males.
Causes of ASD
ASD is a complex neurodevelopmental disorder with both genetic and environmental factors. Family and genetic studies identified ASD as a highly heritable disorder. The heritability can range from 37% to more than 90% with only 15% of cases being attributed to a known genetic mutation. ASD is polygenic meaning there are multiple genes that contribute to the disease. Many inherited genetic variants contribute to a small additive risk of developing ASD.
Neuroimaging research has found that ASD is often associated with atypical brain maturation. Children with autism usually have an excessive number of synapses in the cerebral cortex, this indicates abnormal pruning may be part of the etiology. Pruning occurs at a critical period in childhood where excess synapses are eliminated, it’s critical for proper cortical maturation. Other findings include abnormalities in neurotransmitter levels, immune dysfunction, and neuroinflammation.
One of the greatest areas of controversy has focused on the impact on childhood vaccinations as a causative factor for ASD. The current evidence does not support this theory, and ASD is not associated with childhood vaccinations.
Environmental factors including exposure to valproate, air pollution, low birth weight, and increased maternal and paternal age are all associated with increased risk for the development of ASD.
Co-Morbidity
The most common co-morbid disorders in ASD include intellectual disability, ADHD, and seizure disorder. Approximately one-third of individuals with ASD meet criteria for intellectual disability. ADHD can be seen in 30% to 50% of individuals with ASD. Seizure disorders in these individuals can be difficult to treat, and often refractory to treatment. There is also increased risk of gastrointestinal disturbances such as constipation and restricted food intake.
Evaluating Someone with Suspected ASD
The assessment of ASD requires both an evaluation of the individual and collateral information from caregivers and teachers. ASD remains a clinical diagnosis, but there are several screening and diagnostic assessments that may help support the diagnosis. The most well-known is the ADOS autism diagnostic observation schedule, and the ADI-R autism diagnostic interview revised.
A delay in spoken language is common first symptom that prompts referral in younger children for autism screening. The starting point is usually to check hearing and vision to be sure the individual is not suffering from deficit in either of these sensory domains. If there are dysmorphic characteristics, genetic testing for specific genetic disorders may also be completed prior to the evaluation.
Treatment
There is no FDA approved medication for the treatment of ASD. The primary intervention is behavioral, and these interventions should be started as soon as possible. Applied behavioral analysis (ABA) is a type of therapy that focuses in developing specific behaviors such as social skills, communication, reading, and academics as well as fine motor dexterity, hygiene, grooming, domestic capabilities, and job competence. This should be the core of treatment and has good evidence to support its use.
If medications are used, it’s important to note that they do change the underlying communication or social deficits seen in these children. They are used to target specific co-morbidities such as ADHD, or symptoms that include irritability and aggression. There are only two FDA approved medications for ASD-related symptoms. These medications are risperidone, and aripiprazole and they are approved to treat irritability in children.
Conclusion
ASD is a complex disorder with multiple genetic and environmental factors contributing to the development of the disorder. Since it’s a neurodevelopmental disorder it’s often present at an early age and suspicion of ASD should be followed up with a proper diagnostic evaluation. I think it’s important for people to avoid self-diagnosis and be careful what information they are consuming on social media.
