Autistic Spectrum Disorders AKA PDD James H Johnson

Autistic Spectrum Disorders: AKA PDD James H. Johnson, Ph. D. , ABPP University of Florida

Pervasive Developmental Disorders: Old and New Labels • The current DSM IV category of Pervasive Developmental Disorders includes several more severe forms of child psychopathology. • Historically disorders of this type have been referred to by a variety of labels such as – – – atypical psychosis, child psychosis, symbiotic psychosis, childhood schizophrenia, and infantile autism

Evolution in the Classification of PDD • Prior to 1980 and the development of DSM III. there was no adequate classification system for the diagnosis of these disorders. • In DSM II there was no category appropriate for more severe forms of child psychopathology apart from “Childhood Schizophrenia”. • This category was very general and not sufficient for the diagnosis of the full range problems now considered under the heading of PDD

DSM II Criteria for Childhood Schizophrenia • Symptoms appear before puberty. • The conditions may be manifested by autistic, atypical and withdrawn behavior; • Failure to develop an identity apart from the mothers with general unevenness, gross immaturity, and inadequacy of development. • These developmental defects may result in mental retardation, which should also be diagnosed. • Although some children met criteria for this disorder most with severe psychological problems did not.

DSM III: A New Category for PDD • In DSM III an attempt was made to provide more adequate diagnostic categories for classifying more serious forms of child psychopathology. • Here two primary diagnostic categories were provided, as were more objective diagnostic criteria and specific decision rules for making diagnoses.

PDD: General Characteristics of the Category • Pervasive Developmental Disorders considered within DSM IV differ in a variety of ways – severity of impairment, – age of onset, – likely etiological factors involved • They are similar in reflecting core features that define the general diagnostic category. • They are seen as disorders characterized by pervasive impairments in several areas, including; – deficits in reciprocal social interactions, – deficits in communication skills, and – the presence of stereotyped behaviors/interests/activities

Developmental - Yes; Psychotic - No • At one time, conditions now referred to as Pervasive Developmental Disorders were thought to be reflective of Child Psychosis. • As these disorders generally bear little relationship to the psychotic conditions of adulthood (e. g. Schizophrenia, Bipolar Disorder), they are now referred to as "developmental" rather than "psychotic" disorders.

“Pervasive” vs “Specific” Developmental Disorders • These "pervasive" developmental disorders are to be distinguished from "Specific Developmental Disorders" (e. g. , reading, articulation, arithmetic, and language disorders). • This is because they are characterized by severe disturbances in many basic areas of development. • They may also be reflected in behaviors having no counterpart in normal development. • Children with these conditions often display distorted rather than simply delayed development.

DSM III: the Original PDD Classification • In the initial development of DSM (DSM III), only three categories of Pervasive Developmental Disorders were included; – Autism – Childhood Onset Pervasive Development Disorders. • There was also a more general category of “Atypical Pervasive Developmental Disorder” that could be used for children not diagnosable, using criteria for the other two categories.

DSM III: Autism Criteria • • Onset before 30 months Pervasive lack of responsiveness to other people Gross deficits in language development If speech present, peculiar speech patterns (e. g. echolalia, pronoun reversal) • Bizarre responses to various aspects of the environment – resistance to change; peculiar interests in or attachment to animate or inanimate objects. We will discuss Autism in more detail later.

DSM III: Childhood Onset PDD Diagnostic Criteria • A profound disturbance in social relationships and multiple oddities, all developing after 30 months of age and before 12 years (to separate it from Autism and Schizophrenia). • The disturbance in social relationships is gross and sustained, with such symptoms as lack of appropriate affective responses, inappropriate clinging, asocial behavior and lack of peer relationships.

DSM III: Childhood Onset PDD Diagnostic Criteria – cont. • Oddities of behavior include; – Sudden excessive anxiety – Constricted or inappropriate affect – Resistance to change in the environment – Insistence on sameness – Oddities in motor movement – Speech abnormalities – Hyper or hypo-sensitivity to sensory stimuli and – Self mutilation

Childhood Onset PDD: Associated Features • Bizarre ideas and fantasies and preoccupation with morbid thoughts and interests. • Pathological preoccupation with, and attachment to, objects such as always carrying a string, rubber band, straw, etc. • While seemingly representing an advance in attempting to be more objective in making diagnostic judgments, this classification approach changed in 1987 with DSM III –R.

PDD and DSM III – R: Moving Forward or Backward • In DSM III – R this category was changed dramatically. • The Childhood onset PDD category was eliminated. • Only the category of Autism was retained with this nature of the autism criteria being modified in several ways including; – Removing the age-of-onset criterion – Broadening the autism criteria thus distorting the traditional conceptualization of autism.

PDD and DSM III – R: Moving Forward or Backward – cont. • This broadening of the autism criteria came at a time when research was suggesting that it was important to start looking at subtypes of autism. • The changes resulted in many cases, that would have been diagnosed as COPDD being classified as autism. • Research suggested that diagnoses using these new criteria – Did not correspond to DSM III diagnoses of Autism or – Relate closely to clinician views of autism. • This prompted major changes in the PDD system. – Modifications were made for DSM IV. – DSM IV is more similar to DSM III than DSM III-R!

DSM IV: Current PDD Disorders • Several disorders are included under the present day DSM IV heading of Pervasive Developmental Disorders. – – – Asperger's Disorder Autistic Disorder Rett Disorder Childhood Disintegrative Disorder PDD (NOS) Asperger’s Disorder, Autism, and PDD (NOS) are frequently also referred to as Autistic Spectrum Disorders (Gillis & Romanczyk, 2008)

Asperger's Disorder: The Least Severe of the Severe Disorders • The first published account of this disorder was by Austrian psychiatrist Hans Asperger in 1944 who initially referred to the condition as "autistic psychopathy". • It is interesting to note that Dr. Asperger’s own preoccupations, interests and social aloofness suggest that he may himself have had an autistic spectrum disorder (Lyons & Fitzgerald, 2007) • Asperger used the term "autistic" in the technical sense to refer to an abnormality of personality rather than features of infantile autism. • However, more recent authors have commented on the similarities between these disorders. • Indeed, there is some debate as to whether this disorder is actually distinct from autistic disorder.

Essential Features • Essential features include – severe impairments in social interactions – restricted and repetitive patterns of interests, activities and/or behaviors – that result in impairment. • No clinically significant delays in cognitive development, language development • While not a specific symptom of Asperger's Disorder, children with this condition are often delayed in meeting major motor milestones (e. g. , crawling, walking) and are frequently characterized as clumsy.

Asperger’s: Social Impairments • In autism, social impairments seem to result from an intense desire to avoid social interactions. • The social impairment in Asperger’s seems to result more from a lack of social skills and lack of social perspective taking. • These children seem to have a marked inability to understand use rules which typically guide social behavior.

Asperger’s: Social Impairments • The child with Asperger’s may show significant problems with; – nonverbal behaviors such as maintaining appropriate physical proximity to others while interacting, – making and sustaining eye contact, and – appropriately using gestures, facial expression and other nonverbal behaviors to regulate social interactions.

Egocentricity of Social Behaviors • Social behavior often appears egocentric and self-centered, • Here, the child may frequently pursue his/her own highly personalized interests in social encounters without apparent awareness that the other person does not share similar interests. • Behavior occurring within the context of two way social interactions often appears as inept, naive and peculiar.

Restricted/Repetitive Behaviors • Restricted and repetitive patterns of behaviors, interests, or activities are often striking and may be manifest in a variety of ways. • Some may be preoccupied with specific activities (e. g. , spinning objects) or become overly attached to certain objects or familiar places and become intensely upset when separated from them. • Others show an inflexible adherence to daily routines.

Restrictive Patterns of Interest • Children with this disorder often show an extreme all-consuming involvement in some specific area of interest. – The child may spend most of his/her time learning facts related to the area. – They may collect things having to do with the area, and spend an enormous amount of time talking to others about this area whether or not they are interested. – While, investing a great deal of time learning about their area of interest, the child may have little understanding of the facts that they learn – This results in significant impairment.

Aperger’s vs Autism • Unlike other PDD’s, in Asperger's Disorder, there is no clinically significant delay in cognitive development or language. • The child may learn to speak at a normal age and typically acquires a command of grammar (Children with autism have problems with this). • They may, however, show marked peculiarities in language. • They may invent words, use pronouns incorrectly, or repeat words or phrases over and over in a stereotyped manner. • These children are often extremely concrete and literal with a poor understanding of sarcasm or irony (Wiznitzer (2009). • May have big problem with idioms. • The content of speech is often overly pedantic, often consisting of long one-sided discussions about the child's favorite topic.

Asperger’s vs. High Functioning Autism • Is Asperger’s disorder is a separate disorder or just a variant of autism in higher functioning individuals. • Some evidence suggests that children with Asperger’s and high functioning autism are more alike than different and that Asperger’s may simply be a variant of autism (Frith, 2004). • However, children with Asperger’s and high functioning autism seem to show distinct patterns of social impairment with – children with Asperger’s being rated as “socially active but odd” and – those with autism rated as “aloof and passive” (Ghaziuddin, 2008)

Epidemiology • While there is little good data regarding prevalence, children meeting criteria for Asperger's Disorder are quite rare. • In a total population study of children between ages 7 -16 in Goteborg, Sweden the minimum prevalence of Asperger's Disorder was found to be 36/10, 000. • The disorder appears more common in males than in females. • Sex ratios ranging from 3. 75 : 1 to 9: 1 are reported.

Asperger’s: Etiology • Regarding etiology, the disorder was originally considered to have a genetic basis (Asperger, 1944). • While no formal studies firmly documenting a genetic etiology have been published, case study findings are available. • For example, in an early study Wing (1981) found that, of the 34 cases with this disorder that she studied, 5 of the 16 fathers and 2 of the 24 mothers had, "to a marked degree" behavior resembling that observed in their children.

Asperger’s: Etiology • Providing tentative support for some sort of biological etiology, Wing (1981) found that almost half of the 34 cases she studied had a history of pre-, peri-, or post-natal complications (e. g. , anoxia) sufficient to cause neurological impairment. • Although not definitive, support for the role of biological factors comes from the fact that these children sometimes often show evidence of nonspecific neurological symptoms. • Research findings have also suggested that children with Asperger’s display abnormalities of the cerebellum and limbic system that are not unlike those found in autism (Mash and Wolfe 2007). • More research will be necessary to determine the most important contributors to this disorder.

Asperger’s: Prognosis • Given their higher level of functioning (due to a lack of basic cognitive and language deficits) the prognosis is Asperger’s appears much better than with other PDD’s. • Early studies by Wing (1981) presented case reports of individuals who were able to engage in gainful employment and function in a simi-independent manner. • A recent study found that 27% of those with Asperger’s had good adult outcomes and 26 % had restricted or poor outcomes with a very restricted life with no occupation and no friends (Mash and Wolfe 2007) • Obviously, prognosis is intimately related to treatment and management approaches designed to deal with the child's difficulties.

Treatment of Asperger’s • At present, no treatment has been shown to modify the basic underlying impairment shown by children with this condition, • Behavioral approaches designed to enhance the child's ability to function in social situations, along with an educational program tailored to meet his or her specific needs should be beneficial. • Psychotherapy, while not likely to remediate the child's basic difficulties, may be useful later on as the child becomes aware of the degree to which social skills limitations make it difficult to function without experiencing personal distress.

Autism • Infantile autism was first described by Leo Kanner (l 943) in his classic paper " Autistic Disturbances of Affective Contact", which was published in the, now extinct journal, The Nervous Child.

Autistic Disorder • In this seminal article, Kanner highlighted the defining characteristics of 11 children seen in his child psychiatry practice at Johns Hopkins University. • Kanner believed that these 11 children displayed a type of disorder different from any that had been described prior to that time. • His views regarding this disorder have heavily influenced present day views of the disorder, emphasized a number of features

Nature of the Disorder • Unlike certain other severe disorders of childhood, Kanner assumed autism to have an early onset. • He believed the disorder to be present from the beginning of life, or at least to become obvious during the first year or so. • Indeed, he referred to it as an "inborn disturbance". • He felt that this early onset served to differentiate the disorder from other problems, which at that time, were judged to be manifestations of childhood psychosis.

Defining Social Characteristics • Autistic children have a primary disturbance in social relationships and an apparent inability to relate to others. • They seem aloof, often oblivious to the presence of others, and are often described as being in a world of their own – “Like in a shell”, “Happiest when left alone”, Acting as though people aren’t there”. . • This may be reflected in early life by a failure to show anticipatory posturing when the parent attempts to pick them up from the crib, and the failure of the infant to mold him or herself to the body of the parent.

Defining Social Characteristics • Their problems in relating to others may be displayed by the failure of the child to respond to parents or others. • In some instances children may treat parents no differently from others and may show almost no response when a parent returns home, even after being gone for some time. • Sometimes these children are thought to be deaf because of their lack of responsiveness. • This problem of emotional responsivity prompted Kanner to describe the disorder as a primary disturbance of affective contact.

Social Aloofness as a Core Feature • Kanner suggested that the outstanding fundamental disorder is “the children’s inability to relate themselves in the ordinary way to people and situations from the beginning of life” • He goes on to note that “this is not as in schizophrenic children or adults, a departure from an initially present relationships - it is not a “withdrawal” from formerly existing participation. ” • There is from the start, an “extreme aloneness that whenever possible disregards, ignores, shuts out anything that comes to the child from the outside”.

Autistic Language Impairments • All autistic children show evidence of a severe language disorder. • Many remain mute. • Those that develop speech typically show unusual features such as echolalia (the repetition of what someone else has said, just as it is said) or pronominal reversal (failure to use pronouns correctly ‑ referring to oneself as "you" and to others as "I"). • Even though some autistic children develop fairly large vocabularies, they usually cannot use speech to communicate with others.

Autistic Language Impairments • Kanner noted that although some of his 11 cases developed language, they were no better able to communicate than were those who remained mute. • Speaking autistic children often have no difficulty in naming objects and sometimes seem to have a facility for learning previously constructed verbal materials such as poems, songs, and lists of things. • Such learning, however, seems to be without any appreciation of the meaning of these materials. • There is usually minimal evidence of spontaneous speech that serves a communicative function

The Desire for Sameness • Kanner and others have noted that autistic children seem to display an "anxious desire for the maintenance of sameness. • This refers to the fact that such children often get upset when things in their environment are changed ‑ when furniture is moved, when routines are changed, or when toys the child has left in a particular position are moved. • This may result in a catastrophic reaction lasting until things are returned to their former state. • This desire for sameness may lead some children to display a wide range of ritualistic behaviors.

Other Associated Features • In addition to the characteristics suggested, by Kanner, other behaviors are also found in some autistic children. • Many autistic children show stereotyped behaviors. • They may mouth objects, spend long periods of time flapping their arms and hands, rock, or display other apparently self‑stimulating behaviors. • The may sometimes appear either under or over responsive to environmental stimuli, or both. • Sometimes this under responsiveness is reflected in an apparent insensitivity to pain and in associated self‑injurious behaviors.

Prevalence of Autism • Although autism has, from the beginning, been seen as a rare disorder it has been difficult to determine its exact frequency of occurrence. • This is because investigators have often; – used different criteria for diagnosis, – because the disorder has frequently been confused with other severe disorders of childhood, and – because not all children with autism come to the attention of researchers. • Prevalence data from early studies suggested very low rates of occurrence, typically 4 or 5 cases per 10, 000 children, and as low as 2 per 10, 000 for "classic" cases

Prevalence of Autism • A review of studies conducted since the mid 1980's has, however, suggested higher prevalence figures. • The few studies using DSM criteria have reported rates on the order of 10 per 10, 000 (Classic Autism). • Prevalence rates for Autism Spectrum Disorders – Recently it has been suggested that somewhere between 1 in 500 to 1 in 166 children have an ASD! Center for Disease Control and Prevention (CDC) – It is now being suggested that as many as 1 child per 150 (or more) may have an autistic spectrum disorder (Yeargin-Allsopp et al , 2003) – Other research has suggested that the prevalence for subtypes of autistic spectrum disorder are approximately 22 per 10, 000 for autism, 33 for 10, 000 for pervasive Developmental disorder NOS, and 10 per 10, 000 for Asperger’s disorder (Fombonne, et al , 2006) • The disorder is more frequent in boys than in girls, with sex ratios ranging from 2. 0 to 1 to 5. 7 to 1.

Autistic Success Stories • In a classic paper entitled "How far can autistic children go in matters of social adaptation? " Kanner (l 973) reported on a follow‑up of some 96 autistic children seen prior to l 953. • Although the majority did not fare as well, 11 of the 96 achieved what he described as a favorable outcome. • Here 3 obtained college degrees. Three went to junior college. At time of follow-up one other was reported to be doing well in college. The other four did not go beyond high school or special education.

Autistic Success Stories • The occupations of these grown‑up autistics included accountant, duplicating machine operator, lab technician, bank teller, along with several other types of unskilled work. • Kanner noted that although these 11 children did show a favorable outcome, none seemed to show any interest in the opposite sex or marriage, suggesting continued problems in close relationships. • Kanner found outcome to be unrelated to having received psychiatric treatment. • The single best predictor seemed to be having useful speech by age 5

Prognosis of Autism • In reviewing early follow‑up studies of autistic children De. Myer, et al (1981) suggested that as many as 60 to 70 percent live a life of complete or simi‑dependence, at home or in an institution. • Only about 1 to 2 per‑cent seemed to have achieved normal levels of independence, while others displayed a borderline level of functioning. • A better prognosis seemed to be associated with an IQ greater than 60.

Prognosis of Autism & Autistic Spectrum Disorders • Studies reviewed by Gillberg, et al (1992) suggest: – Autism associated with severe mental retardation diagnosed before age 5 carries a gloomy prognosis in respect of psychosocial adaptation. – Autism associated with mild mental retardation or near average intelligence levels has a more variable prognosis. – About half do poorly psychosocially in adulthood and do not hold jobs or lead independent lives in other ways. – However, a significant proportion of cases in this group has a relatively favorable prognosis and can be self-supporting as adults. – Only a few are likely ever to be married or engage in marriage-like relationships.

Prognosis of Autism & Autistic Spectrum Disorders • In very high functioning cases with autism or Asperger’s syndrome, the overall prognosis is much better. – Oddities of social style, communication and interests are likely to remain, but some in this group hold down jobs and many get married and have children. – There is much less detail with regard to the outcome picture in the high-functioning group than in the those with concomitant mental retardation. Gilberg (1992).

What about High Functioning Autism • Not a diagnostic category • Term used in different ways • Relates to those with autistic features but who have higher level language skills and may be normal in terms of cognitive functioning • Difficulties in distinguishing between this and Asperger’s disorder.

Etiology of Autism • Views regarding the causes of autism can generally be classified as psychogenic or biogenic in nature. • Psychogenic theorists, citing early reports which characterized the parents of autistic children as cold, aloof, obsessional, refrigerator like, and in other less than positive terms (see Kanner, l 943), have emphasized the role of parental variables in the development of autism. • Indeed, some clinicians such as Bettelheim (l 967) have suggested that negative maternal attitudes are of major importance in the development of this disorder.

Etiological Perspectives • For the most part, research designed to link family variables to autism has provided little support for psychogenic views. • De. Myer, et al (1981) have noted that, in sharp contrast to early portrayals of parents of autistic children as "refrigerator" personalities, the last decade of investigation has found these parents to be similar to those with children exhibiting other severe childhood disturbances. • ". . . Parents of autistic children have been found to display no more signs of mental or emotional illness than parents of children with organic disorders (with or without psychosis).

Failure of Psychogenic Explanations • “In addition, they do not manifest extreme personality traits such as coldness, obsessiveness, social anxiety, or rage, nor do they possess specific deficits in infant and child care (p. 432)". • As Gillberg (1990) has also emphatically noted "there is no scientific evidence that psychological or psychosocial stressors or circumstances can lead to autism “(p. 110).

Etiology: A Biological Perspective • There seems to be a growing conviction on the part of most researchers and clinicians that autism is a biologically based disorder. • This point of view is supported by a wide range of studies and findings that have in one way or another implicated the role of biological factors. • The specific biological factors that cause this disorder have not been identified, although several candidates have been identified.

Biological Perspectives • Autism has been shown to be related to biological problems such as; – – – the development of seizure disorders, abnormal EEG's, congenital infections (e. g, . rubella), chromosomal abnormalities, structural abnormalities of the left hemisphere, post mortem assessments genetic factors. retrolental fibroplasia minor physical anomalies congenitial syphillis neuropsychological findings

Biological Findings in Autism: Genetics • Children with autism experience more health problems during pregnancy, at birth or following birth than other chidlren, • Genetics : For identical twins the concordance rate for autism is 60 to 90%; Concordance rates for fraternal twins are near 0%. • Overall heritability of autism approximately 80%. • Family members of children with autism are also more likely to display abnormal rates of social and language problems like those seen in autism, but less severe.

Biological Findings: Structural and Functional Brain Imaging • Abnormalities in the frontal lobes • Structural abnormalities in the cerebellum and medial temporal lobe and related limbic system structures. • Cerebellum found to be significantly smaller than normal. • Brain metabolism studies suggest decreased blood flow in the frontal and temporal lobes • Also decrease in functional interconnections between cortical and subcortial regions and delayed maturation of the frontal cortex • Children with autism also display elevated levels of whole blood seratonin.

Causal Controversy • Do Childhood Vaccinations cause autism? • It has been suggested that Measles, Mumps, and Rubella (MMR) vaccine can result in autism. • There are some children, later diagnosed with autism, who have initial language and socialcommunicative behaviors disappear after getting vaccination. • Here the vaccine itself has been implicated as has thimerosal, a preservative used in this and other vaccines. • Available evidence does not support a link between either and autism (Fombonne, 2008)

Biological Perspectives • Although methodological problems inherent in most studies make it difficult to draw firm conclusions, taken together these findings provide strong support for a biogenic perspective. • Indeed, after reviewing much of the literature related to neurobiological factors in autism, Gillberg (1990) has concluded that "autism is now regarded as a behaviorally defined syndrome of neurological impairment with a wide variety of underlying medical etiologies (p. 106)". • Again, the specific biological factors most relevant to the etiology of autism and their specific role remain to be uncovered.

Treatment of Autism • Due to their severe cognitive and social impairments, autistic children are unlikely to benefit from insight oriented "talk therapies“. • Although some authors have suggested that individual psychotherapy can be of some value in working with a small number of higher functioning autistic children. • While there is presently no "cure" for autism, behavioral approaches have achieved the most obvious success.

Operant Treatment of Autism • Operant procedures, combined with modeling, have been found useful in teaching language, as well as other socially adaptive behaviors, and in decreasing many inappropriate behaviors of autistic children which interfere with their functioning. • Despite these accomplishments, it must be noted that bringing about such behavioral changes requires, not only skills which very few clinicians possess, but also an enormous amount of time. • And, there is the problem of maintaining those treatment gains that are made.

Operant Treatment of Autism • That this approach can be worthwhile is suggested by the results of a program run by Lovaas (1987). • Here, children participated in an intensive, long-term, treatment program that focused on imitation, language development, the expression of appropriate emotions, and appropriate play behaviors. • Of the 19 children participating in the program, it was possible to mainstream 8, and 7 were described as being indistinguishable from normals. • While the degree to which these children did in fact approach normality has been questioned, the results clearly highlight the potential contribution of behavioral treatments.

Pharmacological Approaches • Although much attention has been given to studying the usefulness of pharmacological agents in the treatment of autism, some that were once thought to hold a great deal of promise have turned out to be disappointments. • One such drug is fenfluramine. • This drug was the subject of interest because it tends to reduce levels of serotonin in the blood. • Note that serotonin is one of the neurotransmitter that biochemical studies have found to be elevated in some autistic children. • Two preliminary studies in the 1980’s provided data suggesting that fenfluramine reduces serotonin levels and brings about improvements in functioning, as indexed by a social and intellectual indices.

Pharmacological Approaches • Results also suggested that when the treatment ceased behavior deteoriated. • Subsequently, other researchers have sought to evaluate the safety and effectiveness of fenfluramine. • These, investigations have not always found treatment effects to equal those of prior studies. • Indeed, they suggested that treatment effects often diminish after a few months and that an increase in dosage had only a moderate impact on symptoms. • Despite early enthusiasm, most later controlled studies found no consistent effects for fenfluramine. • Further the association of fenfluramine with primary pulmonary hypertension and (in combination with phentermine) valvular heart disease has eliminated its use as a safe agent.

Pharmacological Approaches • Research with some drugs have shown them to be more effective. • For example, one drug (Haloperidol), which has been used with adult schizophrenics and some other clinical groups, has been shown to improve the learning ability of autistic children and make them more responsive to special education and behavior modification • An especially noteworthy aspect of this treatment is that therapeutic effects were obtained with lower doses that do not seem to produce serious side effects

Additional Drug Treatments • A recent NIMH Multisite study (2005) has found newer, atypical antipsychotic medications such as Risperdal® to be useful in the treatment of autism. • This medication, has been found to not only decrease aggression but also reduced repetitive behaviors and increase social interaction - all with limited side effects. • The two-part study found that discontinuation after six months prompted rapid return of the problem behaviors in most cases. • Other drugs such as the SSRI’s may also be useful in reducing repetitive behavior social avoidance in individuals with autism. • These seem to be more effective with adolescents with autism as opposed to younger children. • The use of other atypical antipsychotic drugs (e. g. Abilify) is also being researched as well.

Multimodal Treatments • While behavior therapy and drug treatments have both shown some promise in treating autism, there is research evidence to suggest that treatment should not be an either/or proposition. • For example, early research by Campbell, et al (1987) focused on the efficacy of a combination of Haloperidol and behavior modification in the treatment of 40 autistic children. • The results of this study suggested that while haloperidol alone was effective in reducing stereotyped behavior and withdrawal, a combination of drug treatment and behavior therapy was superior to either approach used in isolation. • There is reason to believe that behavior modification in combination with other newer drugs such as atypical antipsychotics would also be valuable.

Multimodal Treatments • These findings suggest that, rather than looking for one specific form of treatment to deal with the diverse symptoms of autism (which may be a diverse disorder), it may be important to employ multimodal treatments that are designed to bring about specific types of treatment effects. • And, the importance of special education in the child’s treatment should not be minimized

Living with Autism: Temple Grandin, Ph. D » http: //www. npr. org/templates/story. php? story. Id=4278538

Rett Disorder Dr. Andreas Rett in Vienna, Austria • This disorder, first described in 1964 by Dr. Andreas Rett • Did not receive worldwide recognition until English language publication by Dr. Bengt Hagberg in 1983 • It is a neurodevelopmental disorder which is manifest in both physical & behavioral symptoms. • Initial onset after a period of apparently normal early development. • Onset of symptoms typically occurs as early as 5 months or as late as 48 months • Often misdiagnosed as autism, cerebral palsy or non-specified developmental delay

Rett Disorder: Primary Symptoms • Major symptoms include the following; – a deceleration in normal head growth, resulting in acquired microcephaly, – a loss of previously acquired hand movements, and the appearance of poorly coordinated gait and/or trunk movements. • The loss of existing motor skills. • development of stereotyped hand movements (hand wringing or washing type movements.

Other Symptoms of Rett Disorder • Other symptoms include regression with deficits in expressive and receptive language. • This is usually accompanied by severe psychomotor retardation. • Behavior is often autistic-like; – stereotypic behaviors (e. g. , hand movements noted above), – a lack of sustained interest in persons and objects and – a marked decrease in interpersonal contact

Some General Information • Prevalence of Rett disorder estimated at 1 in 10, 000 to 1 in 22, 000 (Percy & Lane, 2009). • It occurs primarily in females, among live births. • It is usually associated with severe mental retardation. • It is a disorder marked by rapid deteoriation after initial onset and a course which is chronic. • However, sometimes a renewed interest in social interactions may appear as the person becomes older.

Suggestions as to Etiology • Disorder seems to be caused by mutations of a defective regulatory MECP 2 (meck-pea-two) gene on the X chromosome (Zoghbi, 2005). • This gene controls other genes that are involved in the protein synthesis of a protein called methyl cytosine. • This protein acts as a biochemical switch that instructs other genes to turn off and stop producing their own proteins. • This abnormalities of this proteins function produce the neurodevelopmental problems seen in this disorder.

Why Females Only • Why is Rett Disorder seen almost exclusively in females? – Since males have an X and a Y chromosome, they lack a "backup" copy of the X chromosome that can compensate for a defective one – Mutations typically lethal to the male fetus • The diagnosis remains a clinical one – Not made solely on the basis of MECP 2 mutations. – RS can occur with or without mutations in MECP 2, and MECP 2 mutations can occur without the diagnosis of RS. – MECP 2 gene 70 -90% with “classical” RS – MECP 2 gene 0 -30% with atypical RS

Suggestions of Etiology • Despite being a gene related disorder, not likely to be inherited. • Chances of a second child in family developing Rett disorder is less than one in 100. • Other suggestions of a biological etiology include; – the course of the disorder is usually accompanied by the development of motor neurological signs, – almost all show abnormal EEG records – that there is sometimes evidence of cortical atrophy on CT scans, – that some show evidence of postmortem neurological abnormalities, and – that some show abnormalities of the cerebrospinal fluid’

Possible Treatments • Treatment: Multidisciplinary – No cure – Treatment is symptomatic — focusing on the management of symptoms – Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures – Monitoring for scoliosis and possible heart abnormalities – Occupational therapy – Hydrotherapy may prolong mobility – Nutritionists to help them maintain adequate nutrition – Behavioral approaches designed to deal with the behavioral deficits and excesses associated with the disorder may be useful. – Would need to be combined with special education approaches to deal with cognitive impairments, and physical therapy to assist with the motor problems that result from this condition. – Family support is essential.

Long Term Outlook • Long-Term Prognosis – Little is known since most known cases are relatively young. – Females have a 95% chance of surviving to 25 years old – Can live into middle age and beyond; Survival rate to age 35 is about 70% (Percy & Price 2009) – Long term care will likely be necessary – Morbidity often related to seizure disorder or swallowing difficulties – Future: Stem Cell and Gene Therapies

Childhood Disintegrative Disorder • The disorder was originally labeled "dementia infantilis" by Heller (1930), • A severe and disorder occurring after a period of normality. • Usually develops after age two. • Involves rapid regression in behavior with a loss of social, language, and motor skills as well a skills in other areas (e. g. , play, bladder and bowel control). • Symptoms include impairment in social interaction & communication, repetitive and stereotyped behaviors as seen in other PDD’s.

Other Clinical Manifestations • The regression or disintegration seen in the disorder usually takes place over a period of six to nine months. • This results in a clinical picture ". . . of an overactive child with poor attention-span, isolation, obsessional behavior, limited but variable comprehension, minimal and often inappropriate expressive language, but with good motor abilities. ”

Disintegrative Disorder vs Autism • The obsessional and stereotypic behaviors and the impairment in social interactions that often accompany this disorder can resemble autistic disorder. • However, this disorder can be distinguished from autism by – its later age of onset (usually 2 to 4 years) and – the absence of other autistic features. • Examples of the latter might include specific language characteristics as well as the obsessive desire for the maintenance of sameness which is often considered one of the hallmarks of autism.

Epidemiology and Natural Course • A pooled estimate of prevalence from four surveys is 1. 7 per 100, 000. • This suggests that CDD is very rare and its prevalence is 60 times less than that for autistic disorder. • If a rate of 30 per 10, 000 is taken for all PDDs, only one child out of 175 children with a PDD diagnosis would meet criteria for CDD (Fombonne, 2002). • It is more common in males. • It course is variable. – Sometimes, after the initial loss of skills, the condition will remain static, with limited improvement in social behavior. – In other cases there is progressive deteoriation – Most often the problems in social interaction, communication, and behavior remain relatively constant over time.

The Issue of Etiology • Little information is available regarding the etiology of this disorder. • Although it is sometimes associated with medical conditions such as epileptic encephalopathy and progressive neurological syndromes suggesting CNS involvement (Wiznitzer, 2009). • Case studies of children with this disorder have reported; – abnormal EEG findings, – increases in soft neurological signs, and – postmortem indicators of neurolipidoses. • While these findings are suggestive, more definitive investigations into the etiology of this disorder are needed.

Treatment • Despite little information regarding optimal treatments for this condition, an approach similar to that suggested for the treatment of Rett's disorder might be of value in this case as well. • Again, the focus would be on behavioral approaches to modify problematic behavioral excesses and deficits, along with appropriate special educational approaches.

Long Term Outlook • Loss of skills often reaches a plateau and then there may be some limited improvement. • In other cases there is progressive loss of skills. Those with moderate-to-severe mental retardation or with an inability to communicate tend to do worse than those left with a higher IQ and some verbal communication. • The disorder is lifelong with long-term impairment of behavioral and cognitive functioning. • Risk of seizures increases throughout childhood, peaking at adolescence and seizure threshold may be lowered by SSRIs and neuroleptics. 6

The End