Three year-old John presents with his mother to the office today because he “Just won’t talk me, and won’t play with his brother.” With further questioning, she tells me that he does not engage in any verbal play, dress-up play, or appropriate play with toys. The only words he says are words he hears on the television, or he repeats words back that he has heard. He does not come to her for hugs and kisses. This has been going on for about a year, but she thought he would just “grow out of it”.
Upon interacting with John, he will not meet my gaze, and will not respond to questions posed to him. His right hand “flaps” in an intermittent pattern.
In observing John, he has taken one stuffed animal from the toy area, and is repeatedly hitting it against the floor. When I went to redirect John, he dropped to the floor, crying.
This is a classical presentation one might see from a child with autistic disorder, As can be seen from the following excerpt from the Diagnostic and Statistical Manual of mental disorders (4th ed) (DSM-IV).
Autism, as defined in the DSM-IV (APA, 1994, p. 66-71) is a Pervasive Developmental Disorder (PDD). PDD’s are those in which the child has marked deficits in their development, when compared to the age appropriate norms, either physical and/or mental.
The DSM-IV notes three areas from which diagnosis must be made (APA, pp 70-71), social interaction, communication, and behavior/motor activity. Additionally, cognitive impairments are commonly seen. The diagnostic criteria from the DSM-IV are as follows:
- A total of six (or more) items form (1), (2) and (3), with at least two from (1) and one each from (2) and (3):
- qualitative impairment in social interaction, as manifested by at least two of the following:
- marked impairment in the use of multiple nonverbal behaviors such as eye-to eye gaze, facial expression, body postures, and gestures to regulate social interaction
- failure to develop peer relationships appropriate to developmental level
- a lack of spontaneous seeking to share enjoyment, interests, ore achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
- lack of social or emotional reciprocity
- qualitative impairments in communication as manifested by at least one of the following:
- delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
- in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
- stereotyped and repetitive use of language or idiosyncratic language
- lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
- Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
- encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
- apparently inflexible adherence to specific nonfunctional routines or rituals
- stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
- persistent preoccupation with parts of objects
- qualitative impairment in social interaction, as manifested by at least two of the following:
- Delays or abnormal functioning in at lest one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.
- The disturbance is not better accounted for by Rett’s Disorder or childhood disintegrative disorder
Symptoms may manifest in early infancy, with the infant shying away from the parents touch, not responding to a parent who returns after an absence, and inappropriate gaze behavior (“Autism – Part I”, 1997; Klin and Volkmar, 1999, p. 253). The child may fail to meet early language and other developmental milestones. This is the time when most parents begin to become aware that there is something “different”. According to Klin and Volkmar (1999, p. 252), there is often up to a 3-year delay between the report of symptoms to physicians and diagnosis of autism, which is usually made at around age five. The age of the child make a marked difference in the perceived severity of the disorder.
Wing (1997) notes, that when evaluating the behavior of an Autistic person, their age must be kept in mind. It tends to be worse from ages 2 through 5, and then improve from 6 through 10 years of age. It often worsens again in adolescents and young adults, and finally calming back down as they grow older.
Brown (1999) also states that the majority of those with autism, as they get older, take on the negative symptoms of schizophrenia, such as withdrawal, flattened affect, and poverty of thought.
In regards to social aspects, Murray (1996) suggests that the child with autism will present with self-absorption, and rather than forming attachments to persons, may form an obsessive attachment to an inanimate object. Additionally, even the highest functioning Autistic persons have difficulty making and maintaining friendships, showing empathy, and understanding what is expected in social situations (Klin and Volkmar, 1999, p. 253). When in a room with other people, the person with autism will, instead of engaging in social contact, involve themselves in solitary activities, generally with an inanimate object. When they are forced into a group, they have difficulty making eye contact with others, or directly communicating with others. This carries over into their play.
The play of the Autistic child tends to be solitary. They do not wish to engage with others in play, their play is less mature, less creative, and they use fewer toys than non-handicapped children. Additionally, when they did play with toys, their play was much more likely to be inappropriate, either aggressive or self-stimulatory (Retting, 1994). They are also unable to stop their play at the request of others.
Autistic children focus strongly on their task at hand. To attempt to change their focus of play, for instance, before they are ready to can create an emotional crisis (“Autism – Part I”, 1997). These same crises can occur with nearly any change, from something as simple as adding new furniture to the house to changing their daily routine. On the other hand, they are highly distractible, and have difficult paying attention for periods of time (Olley & Gutentag, 1999). Both the crisis and distractibility have a wide variety of behavioral effects.
Behaviorally, children with autism may display self-injurious behavior, non-compliance, and aggression, over- and under- reaction to stimuli and self-stimulation (often in the form of repetitive movements) (Gresham, Beebe-Frankenberger, & MacMillan, 1999; Olley and Gutentag, 1999). They may engage activities ranging from hand-flapping to repetitive sounds to complex repetitive body maneuvers to biting, hitting or scratching themselves. Much of this may be attributed to their lack of ability to communicate their needs and desires.
When looking at verbal skills, Murray (1996) also notes that fully one-half of autistic children are nonverbal. Others’ speech may simply consist of echolalia. He notes that age 5 is generally considered the milestone for the development of usable speech in Autistic children. When speech is present, turn taking seems to be a foreign concept, and speech patterns and intonations are odd (Klin and Volkmar, 1999, p. 254). This speech deficit is beyond what would be expected from their cognitive level.
Cognitively, the majority of persons, about 75%, with autism fall into the category of Mental Retardation. There are additionally about 10% of those persons with autism that fall into the category known as Savant (“Autism – Part I,” 1997). These persons have a single ability that is extraordinary, such as mathematical calculations or musical ability or artistic ability. The common perception of a Savant is Dustin Hoffman’s apt portrayal in the movie “Rainman.” However, It has been questioned if this number of persons represented as mentally retarded is abnormally high, due to interfering effects of the other symptoms of autism on the testing process. (Edelson, Edelson, & Jung, 1998). Testing may also be impaired by other medical or comorbid psychiatric disorders.
Autism Presents comorbidly with a number of other psychiatric disorders, further compounding diagnosis, such as Tourette’s syndrome, obsessive-compulsive disorder, and bipolar disorder (Hellings, 2000). Tsai (1999) gives the following Information regarding a review of literature of comorbidity of specific symptoms in persons with autism:
- 64% had poor attention or concentration;
- 36% to 48% were hyperactive;
- 43% to 88% showed morbid or unusual preoccupation;
- 37% exhibited obsessive phenomena;
- 16% to 6% showed compulsions or rituals;
- 50% to 89% demonstrated stereotyped utterances;
- 68% to 74% exhibited stereotyped mannerisms;
- 17% to 74% had anxiety or fears;
- 9% to 44% showed depressive mood, irritability agitation and inappropriate affect;
- 11% had sleep problems; 24% to 43% had a history of self-injury;
- and 8% presented with tics.
Fombonne, Mazaubrun, Cans, & Grandjean, 1997, in their comprehensive study, also note the following medical conditions that can lead to autism: Tuberous sclerosis, chromosomal abnormalities including fragile X, cerebral palsy, congenital rubella, sensory impairments, and Down’s syndrome. Additionally, approximately 25% of those with autism also have Epilepsy, and it more common in the more severely impaired (Autism Society of America, 1999; Murray, 1996). Sensorially, Blindness and Deafness are found at a higher rate than expected within the Autistic population (Brown, 1999), and there may be hyper- or hypo-sensitivities to sight hearing, touch, smell or taste (Autism Society of America, 1999).
Unless a person has a very clear picture of autism, there is controversy regarding the diagnosis at the less severe stages.
The boundaries of autism as diagnosis are so vague that is presence may be a matter of degree. Many children (and adults) have the symptoms only milder forms, some of which may be accommodated by the APA’s diagnosis of pervasive developmental disorder not otherwise specified. In some cases, mild autism may be difficult to distinguish from personality disorders such as schizoid or obsessional personality or even from certain kinds of personal eccentricity and social awkwardness. (“Autism – Part I,” 1997)
Current attempts to identify specific syndromes within the autistic spectrums, including those used in the ICD-10 and DSM-IV, are unsatisfactory. The criteria for distinguishing subgroups tend to be arbitrary, and are difficult to apply and unhelpful in clinical practice. The clinical picture can change with increasing age and in different environments. (Wing, 1997)
Although the clinical picture can change, and there can be some overlap between diagnoses, that is not unique to autism. The diagnosis of mental disorders is an art form, and will not be an exact science within the foreseeable future. We should never be afraid to admit that a diagnosis may have been wrong, and that a change may be appropriate if necessary as a person ages. When the diagnosis is on the edge of two different disorders, we can take a hint from the field of education, where the requirement is “least restrictive”. We can always make a diagnosis “worse” if necessary, but we need to keep in mind the family, society, stigma, educational placement, and treatment that will be required dependent on our diagnosis.
Incidence and Prevalence
In the second largest survey of autism that has been completed, and one of the most recent, Fombonne, Mazaubrun, Cans, & Grandjean (1997), an overall prevalence rate of approximately 5/10,000 was discovered, with no upward trend in incidence for the younger age group, meaning that the rate of diagnosis has not increased since previous studies were performed.
It is estimated that over 500,000 persons in the United States have a form of a PDD at this time (Autism Society of America, 1999). Using the ratio of 1:2 (1 case of autism to 2 case of other PDD) found by Fombonne, Mazaubrun, Cans, & Grandjean (1997), allows the reasonable assumption of a point prevalence of approximately 166,000 persons with autism in the United States.
Autism is four times as likely to strike a male as a female (Shriver, Allen, & Mathews, 1999), though females are more likely to suffer from more severe mental retardation when diagnosed as autistic (APA, 1994, p. 68). There has been no evidence of autism occurring preferentially in any given racially, economic or ethnic class (Shriver, Allen, & Mathews, 1999). This would point to the possibility that the Y chromosome is the main carrier for the genes that cause autism, considering the much higher rate of male to female, and that if the female has the genes for autism it would require the mother and father to both contribute genes, thus the greater severity of retardation.
In their 1995 study, Aman, Bourgondien, Wolford, and Sarphare surveyed all members of the Autism Society of North Carolina, referred by TEACCH, the only state mandated program in the country to provide services to persons with autism. This provides for a statewide, snapshot view of autism, although weighted toward the lower three socioeconomic classes. A total of 1,635 members were surveyed, and received 838 responses by mail, a statistically acceptable number. The results are as follows:
|Severity of Autism||Retardation|
|Unknown/Not Reported||15%||Unknown/ Not Reported||17%|
Etiology and Pathogenesis
There is strong evidence that autism has a genetic component. One of the most striking is that in twin studies, monozygotic twins had a 64% concordance rate of autism, whereas dizygotic twins had an only 9% rate (Murray, 1996). This still represents a 75-fold greater risk among siblings than among the population at large, however (Larkin, 1997). This strongly points towards a genetic rather than inter-uterine insult or birth insult cause in many cases. This is not to rule out these causes in some cases, as autistic children as a whole have undergone more birth trauma than expected.
Additionally, when the siblings of Autistic children underwent educational testing, they tended to be lower than demographically expected, especially on the verbal portions, leading researchers to wonder if there is a multiple gene component, and the siblings were carriers for a portion of the genetics required for autism (Murray, 1996). It is hypothesized that no fewer than three separate genes are required to act in synchronicity to present the Autistic disorder (Brown, 1999). Autism has also been linked to a number of medical disorders, many genetically based.
As noted before, Fombonne, Mazaubrun, Cans, & Grandjean, 1997, in their comprehensive study, note the following medical comorbid conditions as a possible cause of the autism: Tuberous sclerosis in 1.1%; chromosomal abnormalities including fragile X in 2.9%; cerebral palsy in 4.6%; congenital rubella 0.6%; sensory impairments 0.6%; and Down’s syndrome 1.7%. This is indicative that less than 10% of all cases of autism are most likely caused by a medical condition. Early infantile seizures and brain insult such as from infection or very low birth weight have been implicated as well.
While it has been noted that congenital rubella can cause autism, there was recently reported the Measles-Mumps-Rubella vaccine could also be the cause of autism. While there have been articles in the literature supporting both sides, most seem to favor that the vaccine cannot cause autism (e.g. Peltola, Patja, Leinikki, Valle, Davidkin, Paunio, 1998).
Brain defects have long been considered as a culprit in autism. In fact, the communication disorders that accompany autism resemble those that are found among people who experience lesions in the frontal lobes of their brain (Trepagnier, 1996). Trepagnier also notes that studies have found differences in the brains of persons with autism in the cerebellum and parietal lobes. Small and densely packed neurons in the amygdala have also been identified, along with lowered blood flow to the cerebral cortex (“Autism – Part I,” 1997). Other differences in the Brain can be seen in EEG’s and laterality (Olley & Gutentag, 1999). Along with this, there may be other factors as well.
In his review of literature, Murray (1996) cited fourteen studies relating to abnormal levels of the neurotransmitters norepinephrine, serotonin, and dopamine, and that symptoms could be decreased by targeting these neurotransmitters. The causes are not clear, merely the solution that medications that act directly upon these neurotransmitters can significantly alter maladaptive behaviors. Other body enzymes have been suspected as well.
Alterations in metabolism have also been examined. Untreated Pheylketonuria has been shown to be a cause (Murray, 1996), and a disorder in the tryptophan-metabolizing system is suspected, although it cannot be proven at this time. It can be hypothesized through the successful use of Vitamin B-6, which may indirectly correct this (Murray, 1996). Environment may be an underlying cause to many of the other factors.
It has been suggested that there is an environmental factor, as yet unknown that plays a role in Autism, related to the season. In a chart review of 328 persons with autism over a 35-year period, there was noted a number of cohorts which showed an increase in wintertime births. The researchers question whether factors such as maternal viral infections or nutritional deficiencies may have played a role in these cases (“Does season of birth play a role in autism?,” 1996).
There is no “cure” for autism. However, as autism occurs on a spectrum from mild to severe, there are varying degrees of functioning, which may be reached as an adult. This ranges from holding a job to requiring complete 24-hour care.
However, as the majority of the sufferers are within the lower IQ ranges, some means of supported living is generally necessary for 1/3, and full support is necessary for the remainder, with only 5% – 10 % able to live independently (APA, 1994, p. 69; Larkin, 1997; Murray, 1996). It is also noted that between 40% and 70% of those with autism will spend at least part of their lives in an institution.
Klin and Volkmar (1999) note for us that the primary predictor for future success is the acquisition of communicative speech by the age of five years old.
Relationship based therapies are those therapies that approach the affect, attachment, and bonding of the person with autism.
Holding Therapy is based upon the premise that the child has broken the maternal bond, and seeks to re-establish this. The caregiver holds the child very tightly while speaking comfortingly. The child will start to resist and attempt to pull away, and the caregiver will not let the child go until they “surrender” and look into the caregivers eyes (Herin & Simpson, 1998). It is felt that this approach is very invasive, and while Tinbergen & Tinbergen (1983) noted a 30% increase in positive behaviors with this technique, this study is suspect as it claims 13 children were cured of autism with this method. While still used in Europe, its use is not wide spread in the United States.
Gentle Teaching is essentially a form of errorless learning, ignoring and redirecting of inappropriate behavior along with choices, in order to give positive feedback and increase bonding. The University of Nebraska claimed that of 73 autistic adults taught with this method, none were exhibiting self-injurious behaviors at one and five year follow-ups. However, other studies have not been able to replicate this, and have called it “ineffective” and even “harmful”. This is not to mean that some of the theories are not sound, as parts such as task analysis and prompting are used extensively as parts of other, successful, programs (Herin & Simpson, 1998).
Options is unique in that it does not attempt a cure or to ready the child for the outside world. Instead its focus is on strengthening the bond between adult and child. The premise of the program is to spend as much time as possible in a non-stimulating environment with the child, emulating their actions, to demonstrate unconditional love and to be able to enter the autistic child’s world. There is no scientific evidence regarding this program. However, they offer testimonials of their program, such as the book by the founders in which their son was “cured” of his autism and graduated from and Ivy League college. They train lay people to take their program to the general public. (Herin & Simpson, 1998).
Floor Time is a method of interacting with the child in which the adult essentially joins in the child’s play, and creates interactions with the child. The therapist uses these interactions to help build both verbal and non-verbal skills. The therapist begins with short “circles of communication”, such as interrupting a perseverating activity, which causes the child to take another action, which the therapist follows up on. Later, a longer “circle of communication” is established, such as requiring the child to use the adult to get a favored toy from a shelf. There has been evidence that floor time has positive measurable outcomes based on chart reviews, but not scientific studies have been completed. (Herin & Simpson, 1998).
Skill based therapies attempt to teach and improve an adaptive function to the person with autism.
The Picture Exchange Communication System (PECS) is built on the fact that children with autism may attempt to spontaneously use objects to communicate rather than words to (Herin & Simpson, 1998). Many pictures can be placed on a sheet, or on multiple sheets. When the autistic person has the desire or need for an object, they merely point to that object. The downside of the PECS system is that it discourages the use of/gaining of language skills if it is utilized before the age of five, the age by which language skills age generally gained in the autistic client. PECS has been shown in the school systems to have great ease of use and functionality.
Azrin 24-hour Toilet Training is a method of toilet training that involves sessions of 8 hours or more per day, and involves other techniques such as prompting and overcorrection and fading. It “has generally proved itself to be both utilitarian and effective…. We consider the general method to be a best practices intervention for use with individuals with autism.” (Herin & Simpson, 1998)
Facilitated Communication is where a hand is placed over the hand of the person with autism, and the person is helped to type or communicate. Persons who are believed to have limited mental capacity have been “shown” to type sophisticated information via this method. It has been described as an “ouija board” event, and has consistently failed scientific scrutiny. Despite this, there are staunch believers in this method. (Gresham, Beebe-Frankenberger, Macmillan, 1999; Herin & Simpson, 1998).
Joint Action Routines are set responses to given situations. When it is time for circle, we sit on the circle, we ask for a book, we listen to the story, we get off the circle. Secondly, there is a more abstract joint action routine, where the person with autism remembers what a character in a story does first, then second, and so on. It is a familiar routine that never varies, and can assist students with increasing the use of verbal language and social skills. There is significant empirical support for joint action routines with persons with autism. (Herin & Simpson, 1998).
Visual schedules are similar to a joint action routine, in that it shows what will happen next, and it takes the theory of the PECS, using the visual pictures. There is a picture schedule of what activities will take place in what order. There is not a great deal of research into the use of visual schedules, although they are widely used. (Herin & Simpson, 1998).
Applied Behavior Analysis, while psychometrically sound, has been best supported in the literature for children with autism under 5 years of age (Gresham, Beebe-Frankenberger, & MacMillan, 1999). The child is examined to identify what skills are need for improved performance and functioning. These skills are then worked on utilizing differing methods, depending on the child, and their responsiveness to the interventions. Behavior analysis is well accepted, with strong empirical evidence supporting it. (Herin & Simpson, 1998) Discrete Trial Training is a specific method used in applied behavior analysis. It is a method in which a child is worked with one-on-one. The child is prompted in a series of repetitions to respond in a set manner to a stimulus, over an extended length of time. For example, the teacher says “John, look at me”, and then turns John’s head toward her. She would repeat this direction for ten repetitions, and then go to the next direction. This has shown to be effective, and is widely used (Gresham, Beebe-Frankenberger, & MacMillan, 1999; Herin & Simpson, 1998).
Physiologically based interventions are those that attempt to address the neurologic dysfunctions that are believed to be a part of the autistic disorder.
Sensory Integration is the theory that persons with autism are attempting to seek out a certain sensory stimulus that is pleasant, while avoiding those that are not. This, they believe, will help them establish a state of equilibrium. The belief is by that providing pleasurable sensory input, such as gentle brushing to the hands, feet or back, the person will engage is less undesirable behavior. There is no current evidence against this method, and studies are being conducted to confirm it (Herin & Simpson, 1998).
Auditory Integration Training is the belief that individuals with autism have a hypersensitivity to noise. While this is true for some individuals, it is not universally true. Auditory Integration Training seeks to reduce the hypersensitivity by listening to certain modulated sounds. It is purported that this increased cognitive functioning and desire for socialization. If the sound sensitivity is reduced, however, studies have not shown any efficacy on other behaviors (Gresham, Beebe-Frankenberger, MacMillan, 1999; Herin & Simpson, 1998).
Rhythmic Entrainment Interventions purported to change the physiology of the body through the use of drum rhythms to excite the central nervous system. At this time, no scientific studies can validate this method. (Herin & Simpson, 1998).
Irlen lenses are essentially colored, non-prescription lenses based on the assumption that the eye is receiving too much white light. There is no evidence to support the premise for the Irlen lenses (Herin & Simpson, 1998).
Vision Therapy is useful in correcting dysfunctions within the eye. However, there is no evidence that it has any effect on reducing Autistic behaviors (Herin & Simpson, 1998).
Neuroleptics are prescribed for aggression, agitation, hyperactivity, self-stimulatory, self-injurious, and bizarre behavior (Herin & Simpson, 1998; Sweeney & Forness, 1998)
Stimulants are prescribed for hyperactivity and behavioral problems (Herin & Simpson, 1998; Sweeney & Forness, 1998)
Tricyclic Anti-Depressants for attention deficits, hyperactivity, enuresis, school phobia, sleep disturbance, aggression, and obsessions, as well as self-stimulatory behaviors (Herin & Simpson, 1998; Sweeny & Forness, 1998).
Antihypertensives can be utilized specifically for aggressive behaviors in autism, and has been found to have a “general positive effect on symptoms” of autism (Sweeney & Forness, 1998).
Anticonvulsants are also utilized in the treatment of aggressive behaviors in children with autism. These are given to a large number of children, as approximately 25% of the children, as noted before, have epilepsy, the main use for these medications (Sweeney & Forness, 1998).
anxiolytics are utilized with the autistic population for the treatment of anxiety, aggression, and some seizure disorders (Sweeney & Forness, 1998).
Antihistamines are utilized as a mild sedative to treat insomnia (Sweeney & Forness, 1998).
Narcotic antagonists are given for the treatment of aggression, self-injurious behavior, and to assist in improving social relations (Sweeney & Forness, 1998).
Beta Blockers are used simply to treat aggression, but is still considered investigative (Sweeney & Forness, 1998).
Serotonin Antagonists will sometimes improve socialization and related behaviors in the autistic (Sweeney & Forness, 1998).
Vitamin B-6 (and concurrent magnesium) has been used as a treatment, with the idea of an error in the tryptophan metabolizing system, and in some studies it is reported a dichotomy is seen between subjects in the treatment and placebo phases. This dichotomy is evident in a decrease in maladaptive behaviors during treatment with vitamin B-6 vs. placebo. (Murray, 1996). However, this is has does not have strong, replicable evidence.
Megavitamin dosages of minerals, vitamins B and C, among others, have also been utilized with persons with autism, although the scientific evidence for this is not strong (Aman, Bourgondien, Wolford, Sarphare, 1995; Herin & Simpson, 1998). Additionally, there is a very real risk of toxic side-effects when not utilized properly (Herin & Simpson, 1998).
Autism is a disorder with an unknown etiology at this time. We have any number of promising paths to pursue, and can say that it is partially genetic in nature. Promisingly, unlike other disorders such as ADHD, it does not appear to be increasing in frequency. Whether that is due to it having been diagnosed correctly due to its severity for a long period of time or a stable genetic and other factors is unknown.
While we have constantly updated our criteria for autism, as Wing (1997) noted, The clinical picture of the autistic client changes with age, and it may be appropriate to eventually include a separate DSM-IV criterion for the autistic adult.
We have no cure for autism, and almost all persons with autism require supported living arrangements for their entire lives. However, we are continually researching new methodologies and trying new medications in the autistic clients. Sadly, many “new methods” are smoke and mirrors that prey on the dreams of the parents who are hoping against hope.
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