Optimal Treatment for Children with Autism and Other Neuropsychiatric Conditions

PART I

DEFINING AUTISM

1

HISTORICAL PERSPECTIVE

• What does the term autism mean?

• Where did the concept of autism originate?

• Is there an Austrian connection?

• Is there a relationship between autism and schizophrenia?

• Is autism a psychiatric disorder, emotional disturbance, a form of mental retardation, or is it something else?

Autism comes from the Greek word auto meaning self. The term autism was coined by psychiatrist Eugen Bleuler in 1912. Psychiatrists initially used the term autism to mean escape from reality. To say that someone was autistic was similar to saying that someone had escaped from reality, was out of touch with reality, or psychotic. It is this term, autism, that Leo Kanner used in 1943 to describe a group of 11 children (8 boys and 3 girls) with unique features. They had what he called inborn autistic disturbances of affective contact. We now call this disorder autism.

Prior to the description of autism, as Kanner himself explains, these children were often diagnosed with childhood schizophrenia. Earlier, DeSanctis had introduced the concept of dementia praecocissima, and Heller spoke of dementia infantalis to describe early onset cases of schizophrenia. Theodore Heller was a special educator. He, like Kanner, was from Austria. Although the autistic children described by Leo Kanner had been confused with Heller’s group, there were important distinctions that Kanner made in his original description:

1. In the early onset schizophrenia cases, there is at least two years of complete normal development followed by a gradual change in behavior. In Kanner’s original group these children seemed to have symptoms such as aloofness from the beginning.

2. Unlike the schizophrenic children, those with autism were able to establish and maintain purposeful and intelligent relation to objects that did not threaten to interfere with their aloneness. Kanner stated autistic children were "from the start anxiously and tensely impervious to people with whom for a long time they do not have any kind of direct affective contact…..if dealing with another person becomes inevitable, then a temporary relationship is formed with that person’s hand or foot as a definitely detached object but not with the person himself’.

Autism, as originally described by Kanner, is a condition that has its onset during early childhood. The main characteristic is that of aloofness. Kanner used the term autistic aloneness. The children described by Kanner appeared cut off from their surroundings. In addition, they had significant language and speech delay and were unable to properly use language as a means of communication. Finally, these children appeared to have a persistent need for sameness. They had repetitive movements called self-stimulatory behavior. They were prisoners of routine and structure. Kanner’s particular contribution was the delineation of a special group of children with particular deficits that was unique and distinct from children with other disorders such as mental retardation, childhood schizophrenia, and other neuropsychiatric conditions. He explained that these children were not ‘feebleminded’ but instead they are all unquestionably endowed with good cognitive potentialities…and have strikingly intelligent physiognomies. What that meant is that a child could have autism and be nonverbal without necessarily being mentally retarded or psychotic.

Who was Leo Kanner? He was a psychiatrist originally from Austria. He moved to the United States and eventually went to Johns Hopkins Medical Center where he practiced pediatric psychiatry. He is credited with having written the first pediatric psychiatry textbook. He also developed the first child psychiatry service in a United States hospital. Kanner was decidedly a prominent pediatric psychiatrist who was the chairman of child psychiatry at Johns Hopkins Medical Center for many years until his retirement in 1959. It is perhaps for this reason that many physicians have considered, and still consider, autism primarily as a psychiatric condition.

In 1944, one year after Kanner’s original description of autism, a pediatrician by the name of Hans Asperger, also from Austria, described a set of children with symptoms similar to that of Leo Kanner’s group. Asperger’s group was much larger in number (over 400) than Kanner’s group (of 11) but had symptoms that were very similar. Asperger’s group was more diversified in their symptoms also. A large subset of children described by Asperger had a later onset of symptoms than those of Kanner. Many seemed to have normal or above normal intelligence, but had distinct oddities. Asperger used the term autistic psychopathy. It is interesting to note that both physicians used the term autistic independently in their original description. Both physicians were from Austria and they died within one year of each other (1980 and 1981 respectively).

In the next few decades autism, which was previously unknown and poorly understood, became associated with some strange theories. One such theory that was very popular was the psychogenic theory of autism proposed by another prominent individual, a third Austrian figure, Bruno Bettelheim. Bettelheim was a developmental psychologist/psychotherapist who had a special interest in childhood developmental disorders. He became famous for his work with emotionally disturbed children. From 1944-1973 he was the director of the University of Chicago Sonia Shankman Orthogenic School for severely troubled children. He also taught psychology at the University of Chicago. He felt that autism was the result of parents, mothers in particular, who were cold and distant toward their infant. The psychopathology of the mothers eventually translated into a cold, aloof, autistic child due to poor maternal-infant bonding. It followed that the proper treatment for such a condition would entail removing these children from their home environment and placing them in a more loving, warm and nurturing milieu. This is how the notion of the refrigerator mother developed. Bettelheim wrote: all my life I have been working with children whose lives have been destroyed because their mother’s hated them. Mother’s of children with autism were described as being cold and unable to form a warm loving bond with their infants. Imagine that after carrying your baby for 9 months and having high expectations for the child, you are informed that your baby is abnormal and has a dreadful condition called autism. Then, before you have a chance to regroup, you are blamed for it and your child is taken away from you! Bettelheim’s theory was actually a prevalent and accepted theory for many years.

Apart from the fact that Bettelheim suffered from depression and died by committing suicide in 1990, it has been discovered that many of his stated academic accomplishments were fabricated. Although in his lifetime he was well respected and viewed as brilliant for his work at the Orthogenic School in Chicago, it was later discovered that he was a cruel tyrant. It is interesting to note that Bettel-heim’s theory was accepted not only by psychiatrists, but scientists and many others. Looking at the history of autism, we ought not to make the same mistake today. Autism must be understood properly to prevent suffering of the children and their families.

Dr. Bernard Rimland in 1964 wrote a book (Infantile autism: The syndrome and its implications for a neuronal theory of behavior) that challenged Bettelheim’s psychogenic theory, suggesting that autism was instead a biologically-based disorder. In 1977 Dr. Susan Folstein and Dr. Michael Rutter published the first twin study of autism suggesting a genetic link. Further research confirmed that autism is indeed a biological disorder. Now that autism is known to be a biological disorder, the next question is what causes this biological disorder? As we will see later on in this book, that is a complex question but it can be answered accurately.

Key Points

• Leo Kanner, a child psychiatrist originally from Austria, was the first person to describe autism.

• Hans Asperger, also an Austrian physician, independently described autism at approximately the same time. He looked at a broader spectrum of presentation in children with autism and looked at a much larger group.

• Early theories of autism hovered around a psychological or psychiatric etiology.

• Bruno Bettelheim introduced the psychogenic theory of autism, blaming cold parenting for the condition. This theory was dismantled in large part by Dr. Bernard Rimland.

• Although psychological and psychiatric disturbances are present, autism is now viewed as a biologically-based disorder.

2

FULL SPECTRUM OF AUTISTIC DISORDERS

• What exactly is autism?

• What is the difference between Autism, Asperger syndrome, PDD and ASD?

• Is there any relationship between autism, OCD, ADHD and Tourette’s syndrome?

• What conditions mimic autism?

• How many types of autism are there?

What exactly is autism? Autism is a disorder that starts in early childhood and is characterized by deficits in the following core areas:

1. Communication

2. Social interaction

3. Behavior

At its worst, children with autism are seemingly cut off from their environment. They appear to be in their own little world. They seem unable to speak or comprehend language. They do not interact appropriately with other people and often have episodes of severe and lengthy behavioral outbursts. They also have self-stimulatory movements which may include rocking, hand flapping, walking on their toes or looking at objects from the corner of their eyes. These behaviors may occur for prolonged periods of time.

With milder cases, an individual may be verbal and even speak very clearly, but there may be problems with intonation (monotone voice) and spontaneous, conversational language. Behavioral problems in the milder cases may be expressed mostly in times of stress. These individuals may interact socially, but still lack social cues. Things may be taken very literally. Most individuals with autism appear normal physically. Today, we find that children with autism have a greater range of affection that still encompasses the diagnosis of autism.

Autism, PDD and ASD

Autistic symptoms can be seen in several disorders. This has led to the psychiatric umbrella term of Pervasive Developmental Disorders or (PDD). According to the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM-IV), there are 5 conditions that fall under this rubric:

PERVASIVE DEVELOPMENTAL DISORDERS (PDD)

• Autism

• Asperger’s Disorder

• Childhood Disintegrative Disorder

• Rett’s Disorder (Rett syndrome)

• Pervasive Disorder Not Otherwise Specified (PDD-NOS)

Asperger syndrome

Asperger syndrome is a condition initially described by Hans Asperger in 1944, but he actually used the term autistic psychopathy. Because of the possible confusion of the term psychopathy with that of sociopathy which is very different, Lorna Wing, researcher from England wrote a paper in 1981 entitled: Asperger syndrome: A clinical account in which she suggested that the name be switched from autistic psychopathy to Asperger syndrome. There are arguments concerning whether Asperger syndrome represents a form of high functioning autism or if it is a separate condition. A main feature of this syndrome is that it appears to be inherited. Occasionally there is an undiagnosed ‘odd family member’. It is much more common in males. Unlike Kanner’s original description, many children with this condition have very good verbal skills from a very early age, although there are various aspects of language that may be impaired. The voice may be monotone, and there may be areas of interest that are significantly restricted. An example would be fascination with a certain class of insects, or a particular fascination with astronomy. There tends to be significant clumsiness. A good visual image of a child with Asperger syndrome is a small child that can name every bone in the body or can name various stars and galaxies but cannot tie his shoelaces. Many children with Asperger syndrome have normal or above normal intelligence. Mood and anxiety disorders such as obsessive compulsive disorder are common in these children. Many have significant mind-blindness and are very literal and concrete (see Chapter 6). Why do individuals with Asperger syndrome acquire their symptoms late instead of from the start? Do they have an underlying disorder or are they merely odd? Or was what Hans Asperger believed true, that these children had a ‘psychopathic’ personality trait? Perhaps there is a combination of inherited personality trait with a relatively mild underlying disorder (that is relative to Kanner’s definition of autism).

Childhood disintegrative disorder (CDD)

Another category of children with autistic symptoms is that of Childhood Disintegrative Disorder (CDD). It is also called Heller’s syndrome, dementia infanta-lis, or disintegrative psychosis. Unlike children with autism, these children, usually boys, do not develop their symptoms until after several years of previous normal development. Usually symptoms start between 2 to 4 years of age, but may not start until 9. This condition is thought to be much rarer than Kanner’s autism, and the prognosis is worse. This enigmatic condition is very interesting from an analytical standpoint for several reasons. It is presumed to be due to some neurologic dysfunction since it is associated with seizures, and there is a definite regression in a variety of areas including bowel and bladder control. Why is the onset of this condition so late? Why does it present later than autism? Why is it much more prevalent in males? Why is it so rare, 1.7 per 100,000? Why is the outcome worse than autism? How does one explain the lack of objective findings in many cases? These questions are addressed later on in the chapter.

Rett’s syndrome

In the PDD group, the only disorder to occur almost exclusively in females and to have a known gene defect is Rett’s syndrome. It is caused by a defect in the MECP2 gene on the long arm of the X chromosome—Xq28. Males can get the syndrome, but it is lethal in the fetus. Since the chromosomal abnormality occurs on the X chromosome and females have two X chromosomes, they are protected and do not experience fetal death when they are affected. In this condition, a female infant who was previously normal, after 6—18 months of age starts to develop microcephaly. Eventually, the child develops other cognitive defects and finally starts appearing autistic, losing acquired speech. There is a characteristic hand-ringing that develops, representing loss of purposeful use of their hands. Severe seizures may develop as well as hyperventilation and other breathing abnormalities. All symptoms are progressive, making this a neurodegenerative condition, although children with this condition often reach adulthood.

There are several lessons to learn from this particular condition. First, although it is listed in the PDD category, it is a specific condition with a known etiology, clinical outcome, and pathogenesis. Therefore, any female child diagnosed with autism (or cerebral palsy) who is microcephalic should be worked up for Rett’s syndrome, especially if there is accompanying mental retardation. Second, although most autistic disorders have a male predominance, Rett’s syndrome occurs almost exclusively in females for the reasons explained above. Third, although children with Rett syndrome appear to have autistic symptoms, a specific underlying genetic condition has been identified. This suggests that in a subset of individuals with autism, a specific gene abnormality may result in their autistic symptomatology.

Pervasive developmental disorder not otherwise specified (PDD-NOS)

Finally, there is a group of children with autistic features that do not fit in any group. Symptoms may start very early with some degree of mental retardation, which would make both Asperger syndrome and childhood disintegrative disorder unlikely. Because some autistic features may be very mild or absent, criteria for autism may not be clearly met. This group, which may be the largest, is set aside and placed into the category of pervasive disorder not otherwise specified (PDD-NOS). With PDD, although several disorders are grouped into one category in the psychiatric manual (DSM-IV), the underlying conditions may be quite different. Autistic symptoms can vary from relatively mild to severe making the more recent term autistic spectrum disorders (ASD) a more appropriate one. In the remainder of this book I will use the term autistic spectrum disorders interchangeably with autism.

CURRENT DIAGNOSTIC TOOLS

There are a variety of diagnostic and screening tools available to identify children with autism that rely on rating scales and observation. Some common examples include: ADOS (Autism Diagnostic Observation Schedule), ADI-R (Autism Diagnostic