Adults w Autism | Convergence

Adults with Autism Spectrum Conditions

This paper focuses on recent research of adults on the autism spectrum. The acknowledgement that adults can have a “childhood disorder” such as autism is very recent in the US, and previously adults have been diagnosed with many other psychopathologies such as mood or personality disorders, or schizophrenias. Fifty years ago autism was classified as a mental illness, and was nearly always associated with lower intelligence. There was no recovery from classic autism, and most were institutionalized. Over the years, many children have been healed through nutrition and learned socialization through simple inclusion in family and society.

Today, Autism Spectrum Disorder (ASD), is described by the American Psychiatric Association as “a heterogeneous neurodevelopmental disorder characterized by atypicalities in social communication and interaction and repetitive stereotyped behavior” (Lever & Geurts, 2016). The diagnosis of ASD was new to the Diagnostic and Statistical Manual (DSM-5) in 2013, and added a new domain to the criteria: Extreme responses to stimuli. ASD now encompasses autism, pervasive developmental disorders not otherwise specified, and Asperger’s syndrome, and any client with these established DSM-4 disorders should now be diagnosed as ASD.

I.Defining autism and ASD

The most prevalent features of ASD are symptoms of developmental delay which occur between ages one and three, which are pervasive and sustained. Social-emotional reciprocity is missing, and there is little or no sharing with others or initiation of social interaction. In each individual’s “severity may vary by context and fluctuate over time”—but severity ratings can only be assessed in accordance with the client’s personal interests and goals (APA, 2013).

Among those with ASD, 21% do not meet any criteria for co-existing psychopathology, while just as many meet the criteria for at least one other diagnosis. These diagnoses usually fall into the categories of interpersonal sensitivity, neuroticism and agoraphobia. Adults with ASD meet the criteria for other diagnoses less often than those who are younger (Lever & Geurts, 2016).

a. Diagnoses and assessment in adults

Even when normal language skills (e.g., vocabulary, grammar) are intact, the use of language for reciprocal social communication is impaired in autism spectrum disorder—APA, 2013

In adults the most apparent difficulties are in processing and responding to social cues—such as knowing when and how to join in a conversation and what not to say. Even though they have learned to accommodate for other symptoms, they struggle in new situations and the effort can cause anxiety and exhaustion. What is intuitive for other individuals requires constant calculation and ever-watching others for signs and cues. Difficulty will also arise because the body is not coordinated with speech, so a person is not congruent in facial expression or body language during conversations. Many times an adult will establish friendships which are based only on shared interests, and can only work side-by-side with others rather than enjoying face to face contact and reciprocity (APA, 2013).

Each individual is at a different developmental level, and a person may have no speech, or speak in pre-rehearsed phrases or three word sentences. Things that were perseverated on as a child can become a career in adulthood. An intense abnormal focus may still exist, as well as extreme responses to sounds, textures, smells or touch, but these can usually be accommodated for by adults. Diagnosis in adults can be met if restricted, repetitive behaviors and interests were clearly present in childhood (even though they may no longer be apparent) and there is a significant impairment in social, occupational or other areas of life functioning (APA, 2013).

Medical conditions commonly associated with ASD include epilepsy, sleep problems and constipation. These should be noted under the “associated with a known medical or genetic condition or environmental factor” specifier (APA, 2013).

The first red flag for autism occurs with lack of interest in social interaction in the first year of life. Development moves like an inch-worm with a child sometimes losing skills and deterioration in the use of language before age two (APA, 2013). Other flags include GI problems and sleep disorders in children, anxiety and self-injury (Murphy, Wilson, Robertson, Ecker, Daly, et al., 2016).

Adolescents are prone to anxiety, and some develop motor problems which cause movements to slow or freeze—some may markedly deteriorate to the extent of true catatonia with posturing, grimacing, etc. (APA, 2013). There is preliminary evidence of increased rates of Parkinson’s Disease in adults with ASD which includes muscle rigidity, resting tremor, postural instability and movement disorder. Functional MRI evidence shows abnormal activation of centers in the brain which may cause difficulties throughout the lifespan (Murphy, et al., 2016).

Being slow to speak, or slow in comprehending what is said, walking with an odd gait or on tiptoes, and large gaps between intellectual and functional skills, all support the diagnosis of ASD. An adult coming in for diagnosis for a first time may have a hard time providing developmental history, and consideration of self-reporting is important. Where criteria are currently met, a diagnosis of ASD may be made unless there is evidence of good social and communication skills in childhood (APA, 2013). The Autism Spectrum Quotient (AQ) is a good place to start an assessment of strengths and weaknesses. The AQ for adults focuses on narrowed interests, domains of self in relation to others, sameness and rigidity, and inability to plan or change activities.

NICE (National Institute for Health and Care Excellence in the UK) “recommends that adults referred for assessment of ASD should have a comprehensive, multidisciplinary assessment by trained professionals, which includes diagnosis (assessment of core ASD difficulties, early development, medical and family history, behavior, education and employment), needs assessment, risks, and feedback to the individual” (Murphy, et al., 2016).

b. Assessment instruments: AQ, ADOS and PAUSS.

The Autism Quotient (AQ) was designed to measure a general level of functioning in those with autism, and it can only be used with adults who have normal intellect. Using a 4-point scale rather than 2-point, has made the AQ more precise in scaling general autistic trait. Measuring the intensity of these traits allows one to see how they score on the continuum from non-clinical to clinical; mild symptoms to autistic traits. “The AQ is best suited to capturing individual differences in autistic traits in nonclinical populations” (Murray, Booth, McKenzie & Kuenssberg, 2016, p. 678).

A new assessment tool was recently developed through overlay of the AQ, the Positive and Negative Syndrome Scale (PANSS) used in diagnosing schizophrenia, the Autism Diagnostic Observation Schedule (ADOS, developed for use with adolescents and adults with fluent speech), and the Empathy Quotient (EQ)—all used to test validity and develop the PANSS Autism Severity Score (PAUSS). The ADOS, module 4 assesses developmental history, current daily functioning, self-regulation, quality of social contact and relationships formation and maintenance. A separate assessment with the PAUSS had five domains: Blunted affect, poor rapport, social withdrawal, abstract thinking, conversation, stereotyped thinking and mannerism. The application of this measure showed high internal consistence with autism trait. Using the ADOS alone for diagnosis of ASD revealed that of those adults diagnosed with autism, 7% had no clinical disorder, and about 30% fell into diagnostic categories of affective disorder, pervasive developmental disorder-NOS, alcohol use disorders or attention deficit disorder. Those with ASD who scored high on the ADOS also had high PAUSS scores, but patients with personality disorder or other clinical diagnoses had lower autism trait.

ASD domains of difficulty were paired with schizophrenic negative symptoms, for example: ASD difficulties with social interaction, paired with blunted affect, poor rapport and social withdrawal; difficulties in communication paired with difficulties with abstract thinking, lack of spontaneity and flow of conversation; limited, repetitive and stereotypy paired with mannerism, preoccupation and stereotyped thinking. The PAUSS is found to differentiate between autism and personality and affective disorders—the clinical syndromes frequently confused with ASD—and created a sub-category of autistic schizophrenics.

An ASD diagnosis in children often converts to childhood-onset schizophrenia, and neurodevelopmental problems which are “typical for children with ASD…are also found to prevail in individuals later diagnosed with schizophrenia" (Kastner, Begemann, Michel, Everts & Stepniak, et al., 2015, p. 2).

In a 2015 UK study the ASD adult subjects were highly hospitalized and had been medicated between 2-30 years, in this group with a mean age of 42 years. For some, ASD rolled over to childhood-onset schizophrenia (probably as problems in adolescence began) and so began the medication. The study emphasizes that pathways of autism and schizophrenia merge—and that pathway is treatment resistant, as the genotype does not correspond with a problem along the dopaminergic pathway. This subgroup of autistic-schizophrenics were most likely those born with autistic trait, which after adolescent rise in hormones or adding medications and iatrogenic treatment, were labeled as schizophrenic (Kastner, Begemann, Michel, Everts & Stepniak, et al., 2015).

II.Neurobiology, Epigenetics and the ToM principle

ASD is “considered to be a highly heritable, heterogeneous, neurodevelopmental disorder, with an estimated heritability of approximately 90%" (Murphy, et al., 2016, p. 1670). Genetic contribution is estimated at 35-40%; the other 60% determined by prenatal and postnatal environmental factors—the highest environmental risk being due to exposure to rubella in the womb. The risks of developing ASD can now be calculated, those within families showing a transmission rate of 25 times the general population (Murphy, et al., 2016).

The biological outcome of genetic and environmental interactions is called epigenetics. Neurobiological studies of the structure and function of the brain suggest the existence of neuroinflammatory processes in the frontal cortex and cerebellum of those with ASD, as well as cytokine dysregulation and activation of microglia and astrocytes (Yasko, 2009). Some researchers say it “is probably more appropriate to use the concept of syndrome to characterize autism” (Tordjman, Samogyi, Coulon, Kermarrec, Cohen, et al, 2014, p. 1), because the health problems are the same in autistic children as they are in adults with immune, neurological and inflammatory disorders such as Multiple Sclerosis and Alzheimer's disease (Yasko, 2009).

ASD may in fact be lesser forms of Mendelian diseases which are caused by defects in a single gene, which are life-ending and population-pruning. Where complete loss of function in a certain gene causes nonketotic hyperglycinemia and infant death, some people on the autism spectrum are found to have a “partial loss-of-function mutation”. Other partial mutations in ASD are lesser forms of cerebellar ataxia, and other deadly diseases (Meade-Kelly, 2013). But "by itself, the fact that an individual carries a specific mutation does not always mean that the particular activity (governed by that gene) is impaired" (Yasko, 2009, p. 50). Toxins from the environment can attract chronic infection, and in turn, infection can hide toxins such as mercury within organs so they are not showing up on blood tests. Little known is that women often carry low level step infections which can transmit to the newborn and lead to problems such as leaky gut syndrome, which then becomes "a wide variety of motor and behavioral disturbances" (Yasko, 2009, p. 62) due to depletion of glutathione and other inherent antioxidants within our defense systems.

Whether we view the tide of changing genetics as a blessing or a curse, it seems to be the result of a God-given, evolutionary process. If we can apply good nutrition and natural medicines to alleviate the negative health effects, this also helps one live a good life within their own body and mind.

Professor Baron-Cohen's “theory of mind” principle has changed since the 1980’s when researchers believed that autistic children had less ability to view themselves as distinct from others, compared to normal children. Today Theory of Mind (ToM) is described as an ability to decode and reason another’s state of mind—also considered to be the basis of social cognition. Over the years researchers have devised different ways to test this theory. In the 1990's, tests were derived which showed children with autism did not use words which showed awareness of the mind, or mental states which cause emotions in themselves or others (Baron-Cohen, 2001). This mindblindness has been documented in other mental disorders.

In a recent ToM study, subjects with major depressive disorder engaged in a task called reading the mind in the eyes, while looking at pictures of people’s faces to determine their moods. This social ability has been paired with genetic expression of serotonin and dopamine transport systems. Enhanced pre-frontal dopamine genetic expression was linked with superior ToM reasoning, but the de-coding process had not been uncovered and was suggested to involve a different neurotransmitter system. The relationship of the serotonin pathway in ToM had not been investigated until this current study by Yahavi, Sabbagh, Washburn, Mazurka & Bagby, et al. (2016). Dopamine long versus short chain alleles were measured against response time, with no difference between depressed and non-depressed—although those with short chain alleles were significantly less accurate in their prediction of the pictured person's mood. Those with short alleles are especially sensitive to the rise and fall of serotonin and dopamine. Baseline functioning of neural circuits is now associated with mental state decoding in those with major depression. This sensitivity is seen in other conditions caused by inborn errors of metabolism also, causing stronger amygdala responses (emotional processing) with the serotonin transporter being central to the decoding of mental states (Yahavi, Sabbagh, Washburn, Mazurka, Bagby, et al., 2016).

III.Clinical and non-clinical ASD

Recent neuroscientific studies examined clinical ASD against control populations through testing visual traits, motion process and sensory integration, gaze and social attention, and found that much of the "normal" control population also had autistic traits. Palmer, Paton, Enticott & Hohwy (2014) discovered this different profile of nonclinical ASD while using the AQ for assessment. While ASD is represented by impaired social ability, communication and restricted interests, the levels of impairment vary widely amongst individuals. In this study one distinct finding was a difference between the clinical (symptomatic) and the new non-clinical group: Socialability. Having greater social ability was also predictive of being highly detail oriented (Palmer, Paton, Enticott & Hohwy, 2014.

As a person with ASD ages, their symptomology changes. Over a lifetime, 79% of those with ASD will meet the diagnostic criteria for one or more psychiatric disorders. Adults in their 20's with ASD are the highest medicated group, usually with antipsychotics, followed by antidepressant and anti-anxiety drugs. In general, children are high anxiety which recedes with age. Even though older adults (ages 53+ years) report high psychological distress, the tested levels do not appear to give rise to a clinical level, and are not diagnosed as mental disorders. Clinical ASD groups measure highest in co-existing agoraphobia, depression, anxiety, OCD, interpersonal sensitivity, cognitive-performance deficits and psychoneurotic domains, compared to control groups of normal adults. The common diagnosis for a middle-aged adult with ASD is mood disorder, major depression or dysthymia (Lever & Geurts, 2016), which is actually a physical state of slow functioning which also affects the mind.

No medication is approved for the treatment of ASD or any comorbid mental health problems in those with ASD, except for the use of risperidone for irritability in young people—despite this, they are highly treated with sleep medications, antidepressants, antipsychotics and stimulants. In fact, a person with ASD is eleven times more likely than other people with mental illnesses to remain medicated with psychotropic drugs.

Cognitive behavioral therapies have been modified to treat anxiety in adults with ASD, and there are preliminary results that mindfulness significantly reduces rumination, depression and anxiety. Adults who participated in recreational therapy rated themselves improved in expression of needs and self-realization (Murphy, Wilson, Robertson, Ecker & Daly, et al., 2016).

In conclusion, the diagnosis of ASD has been enhanced in the DSM-5 ascriptive model so a person is not merely assessed within their culture, family, school and environment, but also by sensitivity to stimuli due to their genetic and epigenetic build. There is a large subgroup of autistic adults who were diagnosed with schizophrenia after childhood. They appear to be treatment resistant because traditional psychiatric medications focus on dopamine metabolism, whereas autism is now associated with faulty serotonin metabolism. The DSM-5 is against automatically diagnosing adults with ASD as schizophrenic—they must show actual hallucinations and delusions for a time, not merely social deficits which appear as odd (APA, 2013). Although ASD is listed as a neurodevelopmental psychopathology, it is not automatically a mental illness—it is a person’s actions and reactions which signal a comorbid psychiatric diagnosis. Mood and anxiety symptoms appear to be elevated in those of all ages with ASD, but upon testing only a few are within a clinically diagnostic range.

Autism research and interventions has been geared toward children, but now world-wide legislation is being formed to develop professional awareness about adults with ASD. Services and supports will be needed by all ages, because ASD is a biological expression of a condition which will present with varying symptoms and degrees throughout the lifespan. In other countries autism spectrum disorder is actually called autism spectrum condition, because not all persons with autism display symptomology which rises to the level of a psychopathology.

References

APA, American Psychological Association. (2013). Diagnostic and statistical manual of mental disorders, (5th ed.). Arlington, VA: American Psychological Publishing

Baron-Cohen S. (2001). Theory of mind in normal development and autism. Prisme 34:174-183

Kastner A, Begemann M, Michel TM, Everts S & Stepniak B, et al. (2015). Autism beyond diagnostic categories: Characterization of autistic phenotypes in schizophrenia. BMC Psychiatry 2015. doi: 10.1186/s12888-015-0494-x

Lever AG, Geurts HM. (2016). Psychiatric co-occuring symptoms and disorders in young, middle-aged, and older adults with autism spectrum disorder. J Autism Dev Disord 2016, 46:1916-30

Meade-Kelly V. (2013). Scientists investigate inherited causes of autism. Cambridge, MA: Broad Institute. Retrieved 8/2/2016 from: http://medicalexpress.com/news/2013-02-scientists-inherited-autism.html

Murphy CM, Wilson CE, Robertson DM, Ecker C, Daly EM, et al. (2016). Autism spectrum disorder in adults: Diagnosis, management, and health services development. Neuropsychiatric disease and treatment 2016, 12:1669-1686

Murray AL, Booth T, McKenzie K, Kuenssberg R. (2016). What range of trait levels can the autism-spectrum quotient (AQ) measure reliably? An item response theory analysis. Psychological assessment 2016, 28:6, pp. 673-683

Palmer CJ, Paton B, Enticott PG, Hohwy J. (2015). 'Subtypes' in the presentation of autistic traits in the general adult population. J Autism Dev Disorder (2015). 45: 1291-1301

Tordjman S, Samogyi E, Coulon N, Kermarrec S, Cohen D, et al., (2014). Gene x environment interactions in autism spectrum disorders: role of epigenetic mechanisms. Frontiers in psychiatry: Schizophrenia, 5:53. doi: 10.3389/fpsyt.2014.00053

Yahavi AY, Sabbagh MA, Washburn D, Mazurka R, Bagby RM, et al. (2016). Serotonin and dopamine gene variants and theory of mind decoding accuracy in major depression: A preliminary investigation. PLOSone. doi: 10.1371.journal.pone.0150872

Yasko A. (2009). Autism: Pathways to recovery. Bethel, ME: Neurological Research Institute