Lauren Charlot, Ph.D.
"I shall be telling this with a sigh Somewhere ages and ages hence: Two roads diverged in a wood, and I took the one less traveled by,And that has made all the difference." Robert Frost, The Road Not Taken - Mountain Interval, 1920
The most important things I have learned about Autistic Disorders, I have learned from spending time with people with Autistic Disorder, and their families. I have come to know many of these individuals during difficult periods in their lives, most often in the midst of a mental health crisis. The essence of these experiences can be very difficult to convey to anyone who hasn't walked along the same professional path. Sometimes, presenting the data or reviewing the literature just isn't enough. Case studies can be an important way to share information with colleagues, and may be one of the best ways to increase our understanding of individuals whose problems are highly unusual and complex. In this paper, I have described two individuals with Autism Spectrum Disorders (ASDs) who presented for psychiatric inpatient care to our specialty unit at the University of Massachusetts Memorial Health Care, in Worcester Massachusetts. Each individual taught me a special lesson, and hopefully, recounting their stories will be of some benefit to other practitioners, who have chosen the "road less traveled...," an honor I shared with my much esteemed colleague, John Jacobson.
When in Doubt, Rule It Out: How Medical Problems Cause People with ASD to Seem Mentally Ill
Susan has a seizure disorder. Her brain functions remarkably, despite an ongoing electrical storm, often without showing up as any kind of alteration in observable behavior. She has been diagnosed with a condition known as Lenox - Gestault, a serious form of epilepsy characterized by multiple types of seizures. Susan always has a markedly abnormal EEG, even when the frequency of her seizures has been under fairly good control. Susan, now 28 years old, has displayed every type of seizure a person can have, including grand mal seizures, or "GTCs" (generalized tonic-clonic seizures"), absence seizures, atonic seizures (sudden rigidity often followed by dramatic falls), akinetic seizures (sudden jerking of muscles usually in arms or hands), simple partial seizures (movement or a sensation isolated to one part of the body) and complex partial seizures (seizures that begin in one area of the brain and then generalize leading to a loss of consciousness). She has experienced these seizures since she was very young, and the abnormalities in her neural tissue that caused the epilepsy most likely account for her having features of an Autistic Disorder and moderate intellectual disabilities (ID).
It has been estimated that about 25% of individuals with Autistic Disorder have seizures , and from 20-40% of people with an ID ( Autism citation, Espie et al., 2003). Some 50% of individuals with ASD have abnormal EEGs. Risk factors include more severe intellectual impairment, female gender, and family history of epilepsy. Although significant heterogeneity has been described, there may be a larger percentage of people with ASD and epilepsy who have a left hemisphere focus. The increase in risk rate for epilepsy is thought to have genetic origins. There is also an unusually high number of individuals who have their first seizure in adolescence among people with ASD.
Fortunately, by the time we met Susan, she rarely had GTCs, the seizures that can cause the most serious problems. She did continue to have partial seizures, but these were not very frequent. Like nearly every person who comes to our inpatient psychiatric unit, she had been increasingly aggressive. Initially, a question from Susan's caregivers was whether or not her challenging behaviors were actually seizures or "ictal" events (seizures are referred to as ictal and the period between seizures as inter-ictal). Susan's providers gave us a videotape. At intake, they reported that seizures occurred multiple times every day. The frequency of seizures was recorded by her program staff, tallied, and reported to her outpatient neurologist. The neurologist was adjusting her medications to try to reduce the very high rate of seizures. When we reviewed Susan's video, however, we realized that her staff were counting every unusual movement (as well as some of her agitated behaviors) as seizures. Though there were volumes of data about seizure frequency, there was almost no information about what specifically had been observed, and seizure type was not recorded (just a frequency). So the video was very revealing. One lesson we learned in this instance was that clinicians need to question informant reports carefully, and always ask people to "tell me what you saw."
It can be challenging to differentiate seizures from other types of unusual movements in many cases. Susan's staff may have been inadvertently reporting a higher rate of seizures than was actually present. Over the years, we have found seizure frequency reports to be unreliable in a number of cases, primarily because staff need education about how to take data on these types of events. We once discovered that one of our patients, who had been treated for complex partial seizures for many years, was actually having panic attacks. She had received very aggressive treatment for the seizures, and developed side effects to the treatments, resulting in apparent further psychiatric decompensation. When gathering history on new patients, we greatly appreciate having videotapes of behaviors of concern, as well as detailed accounts of symptoms and other phenomena related to the need for evaluation. Benjamin Sheldon, M.D. (our neuropsychiatrist who consulted on this case) (2000) urges "careful observation and recording," and recommends that "behaviors should always be described in relation to the phase of the seizure disorder. These phases include the pre-ictal, ictal, post-ictal and inter-ictal phases.
We rarely have simple answers for the often asked question about the origins of a specific behavior (whether or not a behavior is one thing or another such as, is it a symptom or a learned behavior). Usually, human behavior is complex and multiply determined. In Susan's case, as for most people we evaluate who suffer from epilepsy, her aggressive behavior did not appear to be "ictal." Challenging behavior such as aggression and epilepsy may be related in various ways. The more common connection we have observed is that a person starts out with a tendency to be aggressive when distressed (based on an array of biological, social and other factors), and the medication used to treat their epilepsy lowers the threshold for this type of behavior by causing sedation, restlessness, or irritable mood.
At the time of Susan's admission to our unit, she presented with irritable mood, lethargy, and aggressive behavior. We were concerned that side effects from phenobarbital could be a problem. In reviewing her history, it became apparent that she had exhibited an increase in aggressive behavior after she was first treated with phenobarbital a number of years prior. Phenobarbital has been noted to cause irritable mood in some people, though it has also been an effective anti-epilepsy medication in other situations. Susan's constipation was significant as well, and she showed some improvement in her mood and behavior when this was treated and resolved. It was not clear to us that Susan actually had any Axis I psychiatric disorder, though there had been a question raised as to whether or not she was psychotic. We saw no evidence of psychosis, even when we conducted a very careful and detailed review of her history. Espie et al. (2003) noted that one-third of patients they studied who had both epilepsy and intellectual disabilities met criteria for a psychiatric disorder. This is a much more frequent co-occurrence than reported for people without ID. Factors they identified that appeared to confer more risk for the occurrence of behavior problems included level of intellectual disability, sensory and motor problems, and &ldots;..side effects of medication.
During Susan's stay with us, our primary interventions were to reduce AEDs (anti-epileptic drugs) and to develop a structured day schedule, as well as a behavioral treatment approach. Susan was initially assaultive and agitated, but she gradually showed improvement over the course of her four-week inpatient stay. She actually had only a few simple partial seizures, and no other seizures were noted during the entire admission. She had been noted to have several seizures daily prior to this stay. After she went home, she was followed by a colleague who works closely with our team, Dr. Joan Beasley. Dr. Beasley reported back to us that Susan began to speak again for the first time in several years. Some time speech returns in people with epilepsy who become mute when the electrical discharged in the expressive speech areas of the brain come under better control. Also, when there has been a significant degree of sedation from AEDs, tapering these or replacing more sedating medications with less sedating ones can lead to some return of previously depressed competencies.
We taught Susan's residential team to count seizures in a more accurate and meaningful way, based on the help we received from Dr. Benjamin. At the end of her inpatient stay, and then for some time following her discharge, Susan was less aggressive. Dr. Beasley provided ongoing consultation, and helped modify her behavior plan for use at home. Then, after about one year, Susan started to be aggressive again. Dr. Beasley called and said that Susan's team was frustrated and quite worried about her. Some team members had suggested Susan might need antipsychotic medication to control the aggression. On a positive note, her epilepsy was unchanged. We urged caution and further assessment, and wondered, what had changed? Then Dr. Beasley observed Susan holding onto her jaw during an agitated outburst. One dental visit later, Susan was diagnosed with an impacted wisdom tooth. When treated for her medical problem, her mood and behavior improved dramatically. There was in fact, no need for antipsychotic medication.
Susan was only one of many individuals with ASD we have treated, who were eventually found to have an "occult" medical problem that caused them to appear as if they were deteriorating psychiatrically. During her admission, Susan may have been irritable because of the several AEDs she took to treat her epilepsy, and perhaps specifically due to the phenobarbital. She was switched to a different AED , and it may be that this medication did a better job of controlling her epilepsy. She functioned much better with less medication overall. Although it may seem counter-intuitive, our neurologists have taught us that in certain situations, "less is more," in the treatment of epilepsy in certain cases. Later, when Susan seemed to be decompensating, it was eventually revealed that she had a physical basis for her distress. In general, we have learned from numbers of similar situations that people with ASD and other developmental disabilities often express distress, regardless of its source, through the "final common pathway" of aggressive, self-injurious, and other disruptive behaviors. This may be a developmental phenomenon, as people with ASDs often simply have fewer ways to express themselves ( a limited behavioral and stress relieving set of strategies). So our rule of thumb now is always, "when in doubt, rule it out." We try to be very thorough in searching for any possible physical sources of distress, whenever acute changes in behavior bring people with ASD (or other developmental disabilities) to psychiatric clinical attention.
Elvis is In the Building
Freddie was a 36 year old man with a moderate ID and an ASD. He was referred to our unit because he had been very aggressive. Fragile X syndrome (FXS) is the most common inherited cause of mental retardation as well as the most common identifiable cause of autism. FXS is caused by a repeat sequence of a trinucleotide , (CGG) ( in the promotor region of the FMR1 gene found at Xq27.3). ASDs are estimated to occurred at a rate of about one case per 500 births. Of note is the extent to which the estimates have risen and some studies are indicating a possible very significant increase in the rate of new cases. Some experts argue that much of the increase can in fact be accounted for by the fact that we have dramatically changed the scope of our definition of ASD (we now have a much broader definition), and also the fact that we are much better educated at detecting the presence of an ASD. More children are assessed, parents are better educated, and more children are recognized as not simply having a developmental disability, but having the more specific disability of an ASD. FXS is more often fully expressed in males while females may be carriers and have only a few of the usual phenotypic features. The "full mutation" of FXS is estimated to occur in approximately 4000 males and one in 8000 in females. "Permutations" are reported to occur in about one in 813 males and one in 259 for females. Recent investigations have identified a rate or about 15-33% of individuals with FXS also meet standardized diagnostic criteria for an ASD.
I will never forget the day of Freddie's admission. I was returning from an administrative meeting off of the unit. As I entered, I saw immediately that the unit was under siege. All of the patients had been escorted to the day room at the farthest end of the unit by two of the staff. The other six staff, including nursing staff and clinicians were at various points outside of Freddie's room. All of the furniture that had previously been in the room was strewn across the hallway in varying stages of disrepair, including two chairs, some drawers from a desk, the desk itself, and the desk-top shelves. Freddie, having run out of things to throw at people from his new hospital room, began to strip his clothing off, wet it down in the sink, spin it, and then whip it at us from the doorway. After a while, there was nothing left to hurl. Eventually, he calmed, and we were able to contain him, and convince him not to be so afraid. Freddie also met full DSM criteria for an ASD. Freddie showed the classic gaze aversion often displayed by individuals with Fragile X. This was evident even when he was calm or happy. Fragile-X is the most common known inherited cause of ID, and the most common identifiable cause of ASD. Freddie's favorite thing in the world was Elvis Presley. Aided by his guardians, Freddie amassed a collection of music, posters and other Elvis paraphernalia. Freddie also liked to do arts and crafts and to write things down. He had become very aggressive after two residential moves. He had a lot of difficulty with coping with change, and especially with meeting new people. We learned that he had been aggressive like this in the past, though he was doing quite well in one of his homes where he lived for several years. He had been diagnosed with an "Intermittent Explosive Disorder," but we noted a significant anxiety component in all of his major aggressive episodes. Typically, he became aggressive to ensure removal from situations that frightened him. Recent treatment had included reinforcers for "not being aggressive," and antipsychotic medication, as well as a mood stabilizer because he had "mood swings." Freddie's mood swings were described by his residential staff as ranging from calm and OK to obviously fearful (or both).
Freddie did especially well with a consistent routine, and he was given reinforcers for engaging in each component of this. He greatly enjoyed getting small treats. (He didn't even mind if these were low fat.) He learned to retreat to a matt on the floor in his room, on his own, after a long period of us guiding him there when he showed signs of anxiety (rocking, biting his hand or pacing). We also helped him to avoid situations that were most likely to provoke anxiety for him, such as being in the group areas during unstructured times or other noisy situations. Increasing his use of words to request things was also a targeted behavior. He was additionally treated with a beta blocker, a medication usually used to treat hypertension. This seemed to help with a general decrease in his autonomic arousal, and he was better able to attend to programmatic and other non medical-interventions.
Like many of the people we treat who have an ASD, and especially people with the combination of ASD and Fragile X , Freddie's escape and avoidant based aggression seemed "fear based," and appeared to arise from a core problem he had with regulating arousal states, and assessing the nature of "threat stimuli." He was actually less fearful of things that might be normally expected to provoke fearfulness, and in a complete and full blown panic state in response to "social" stimuli such as having to deal with new people. Of interest are some of the newer findings about the neural basis of these frequently observed behavioral findings among people with an ASD, and particularly for individuals with Fragile X and ASD, as reported by Goodlin-Jones and group (2004).
Freddie did well eventually, and he was able to return to his group residence who used a completely new set of strategies with him, all based on seeing his aggression as "panic-driven." There was a new respect among his team members for the extent to which change was difficult for him, and how ell he did when he had a highly predictable routine. He also went home with some new Elvis stuff. I especially remember him as one of the very few people in my life who would tolerate my rendition of "You ain't nothing' but a hound dog."
In these two cases, I have tried to illustrate a few issues that may be important to people providing services to individuals with ASD or other developmental and intellectual disabilities. In many instances, though our knowledge has grown, there are few absolutes. In so many cases, an unusual combination of trying to see the world from the patient's point of view, and understanding some of the science we do have, that seems to be our formula for success. When things do go well, and individuals we try to help have a positive outcome, it is clear that choosing the road less traveled was well worth the trip.
Espie, C. A., Watkins, J., Curtice, L., Espie, A., Duncan, R., Ryan, J. A., et al. (2003). Psychopathology in people with epilepsy and intellectual disability: An investigation of potential explanatory variables. Journal of Neurology & Neurosurgical Psychiatry, 11, 1485-1492.
Sheldon, B. (2000). Epilepsy. Clinical Nursing Practice, 1 (4), 7-12.
Goodlin-Jones, B. L., Tassone, F., Gane, L. W., & Hagerman, R. J. (2004). Autistic spectrum disorder and the fragile X premutation. Journal of Developmental & Behavioral Pediatrics, 25, 392-398.