1. What is Autism? ….and What in the World are We Going to do About It?
David E. Berry, D.O., Ph.D.
LewisGale Physicians
Blacksburg Pediatrics
Associate Adjunct Clinical Professor
Edward Via Virginia College of Osteopathic Medicine

2. Disclosures
The following speaker reported no relevant financial relationships to disclose.
David E. Berry, D.O., Ph.D.
The following speaker(s) reported financial relationships:
None
The planning committee members reported no relevant financial relationships to disclose

3. DON'T BE
AFRAID

4. What is the best label?
Christopher, aged 4 years, has been referred to a multidisciplinary child development centre because of concern about his failure to develop normal language and social behaviour. He is seen by a paediatric neurologist, a child psychiatrist, a speech therapist and a psychologist.

5. What is the best label?
At the case conference, the paediatric neurologist proposes that the child has developmental dysphasia, on the grounds that his comprehension is poor and his expressive language abnormal, but hearing is adequate, ability to do non- verbal tasks such as copying or jigsaw puzzles is good, and there are no neurological signs.

6. What is the best label?
The psychologist, however, thinks that the child is autistic because, as well as having a language problem, his social behaviour is poorly developed: he does not play well with other children and lacks warmth in his relationships with his parents.

7. What is the best label?
The child psychiatrist argues that the child's social and language abnormalities are not severe enough to warrant a diagnosis of infantile autism: he does initiate communication with others, makes eye contact and enjoys rough and tumble play, but he tends to get rejected by other children because he wants them to participate in his repetitive activities and is insensitive to their needs. Christopher can produce long and complicated sentences, but his responses to questions are often inappropriate, and he often asks questions of others while disregarding the answers he receives. The psychiatrist suggests a diagnosis of Asperger's syndrome.

8. What is the best label?
The speech therapist states that an analysis of Christopher's language shows that it is phonologically and grammatically normal, but there are many abnormalities in the way in which language is used, and comprehension in conversational contexts is poor. She suggests that this is a case of semantic-pragmatic disorder. The psychologist responds that semantic-pragmatic disorder is just another name for autism.

9. What is the best label?
A visiting American paediatrician is asked to comment on the case. She examines Christopher carefully and proposes that this is a case of PDD NOS (pervasive developmental disorder not otherwise specified).

10. Autism, Asperger's syndrome and semantic-pragmatic
British Journal of Disorders of Communication 24, (1989)
© The College of Speech Therapists, London
Autism, Asperger's syndrome and semantic-pragmatic
disorder: Where are the boundaries?
D. V. M. Bishop
Department of Psychology, University of Manchester

12. What is autism?
The word "autism," which has been in use for about 100 years, comes from the Greek word "autos," meaning "self." The term describes conditions in which a person is removed from social interaction -- hence, an isolated self.
Eugen Bleuler, a Swiss psychiatrist, was the first person to use the term. He started using it around 1911 to refer to one group of symptoms of schizophrenia.
In the 1940s, researchers in the United States began to use the term "autism" to describe children with emotional or social problems. Leo Kanner, a doctor from Johns Hopkins University, used it to describe the withdrawn behavior of several children he studied. At about the same time, Hans Asperger, a scientist in Germany, identified a similar condition that’s now called Asperger’s syndrome

13. What do you see?
One symptom common to all types of autism is an inability to easily communicate and interact with others. In fact, some people with autism are unable to communicate at all. Others may have difficulty interpreting body language or holding a conversation.

14. What do you look for?
Other symptoms linked to autism may include unusual behaviors in any of these areas:
interest in objects or specialized information
reactions to sensations
ways of learning

15. Furthermore...
These symptoms are usually seen early in development. Most children with severe autism are diagnosed by age 3. Some children with milder forms of autism, such as Asperger's syndrome, may not be diagnosed until later when their problems with social interaction cause difficulties at school.

16. The Autism Group Pervasive development disorders (PDD) Autism
Asperger's disorder
Pervasive developmental disorder NOS
Rett syndrome
Childhood integrative disorder

17. Autistic Disorder Children with autistic disorder
cannot use verbal or non-verbal communication to interact effectively with others
have severe delays in learning language.
have obsessive interest in certain objects or information.
perform certain behaviors repeatedly.
symptoms must have been noted before age 3.

18. “Autism” is not...
Pervasive development disorder -- not otherwise specified (PDD-NOS):
Children diagnosed with "atypical autism"
Children with PDD-NOS have symptoms that do not exactly fit those of autistic disorder or any other ASD.
symptoms may have developed after age 3.
symptoms may not be severe enough

19. Asperger's Syndrome Many of the same symptoms
Average or above average intelligence.
Want to be social with others but don’t know how to go about it.
Not be able to understand others' emotions.
May not read facial expressions or body language well.
Symptoms may not become apparent until school when behavior and communication with peers become more important.

20. Socially appropriate?

21. Rett Syndrome Children with this severe, rare condition
normal development from birth through about 5 months of age.
from about 5 to 48 months of age, head circumference development slows. Children lose motor skills
social interaction and language development become impaired.

22. Childhood Integrative Disorder
Children begin developing normally.
From about age 2 to age 10, children are increasingly less able to interact and communicate with others.
They develop repetitive movements and obsessive behaviors and interests.
Lose motor skills, too.
Become disabled.
Rarest and most severe autism spectrum disorder.

23. Diagnostic and Statistical Manual of Mental Disorders
DSM
Diagnostic and Statistical Manual of Mental Disorders

24. Autism DSM I 1952 Schizophrenic reaction occurring before puberty
May differ from schizophrenic reactions occurring in other periods because of the immaturity and plasticity of the patient at the time of onset
Primarily includes autism

25. Autism DSM II 1968 Schizophrenia, childhood type
Symptoms appear before puberty
May be manifested by
Autistic, atypical and withdrawn behavior
Failure to develop an identity separate from mother’s
General unevenness
Gross immaturity and inadequacy of development
May result in mental retardation

26. Infantile Autism DSM III 1980
Onset before 30 mo of age
Pervasive lack of responsiveness to other people’s
Gross deficits in language development
Peculiar speech patterns
Echolalia
Metaphorical language
Pronominal reversal
Bizarre response to environment
Resistant to change
Peculiar interests or attachments
Absence of delusions, hallucinations, loosening of associations, and incoherence

27. Autism DSM III-R 1987
A. Qualitative impairment in reciprocal social interaction
Lack of awareness of feelings of others
No or abnormal seeking of comfort at times of distress
No or impaired imitation
No or abnormal social play
Gross impairment in ability to make peer friendships

28. Autism DSM III-R 1987
B. Qualitative impairment in verbal and nonverbal communication
No mode of communication
Babbling, facial expression, gesture, mime, spoken language
Abnormal nonverbal communication
Eye-to-eye, facial expression, body posture, gestures to initiate or modulate social interaction
Absence of imaginative activity
Abnormal speech
Volume, pitch, stress, rate, rhythm, intonation

29. Autism DSM III-R 1987 Abnormal form or content of speech
B. Qualitative impairment in verbal and nonverbal communication
Abnormal form or content of speech
Stereotyped and repetitive
Echolalia
“you” for “I”
Idiosyncratic use of words or phrases
Irrelevant
Impairment in ability to initiate and sustain a conversation

30. Autism DSM III-R 1987
C. Restricted repertoire of activities and interests
Stereotyped body movements
Persistent preoccupation with parts of objects
Distress of changes in trivial aspects of environment
Unreasonable insistence on routines in precise detail
Markedly restricted range of interests; preoccupation with one narrow interest

31. Autism DSM IV 1994, DSM IV-R 2000
1. Qualitative impairment in social interaction
Multiple nonverbal behaviors
Eye-to-eye gaze
Facial expression
Body postures
Gestures to regulate social interaction
Failure to develop peer relationships
Lack of spontaneous seeking to share enjoyment, interests, or achievements
Lack of social reciprocity

32. Autism DSM IV 1994, DSM IV-R 2000
2. Qualitative impairment in communication
Delay/lack of spoken language
Impaired ability to initiate or sustain conversational
Stereotyped and repetitive use of language
Lack of varied response to make-believe or imitative play

33. Autism DSM IV 1994, DSM IV-R 2000
3. Restricted, repetitive, and stereotyped pattens of behavior, interests, and activities
Abnormal in intensity or focus
Inflexible adherence to specific nonfunctional routines or rituals
Stereotyped and repetitive motor mannerisms
Hand flapping
Complex whole body movements
Persistent preoccupation with parts of objects

34. Autism DSM IV 1994, DSM IV-R 2000
Delays or abnormal function before age 3 yr in at least one of
Social interaction
Language in social communication
Symbolic or imaginative play
The disturbance is not better accounted for by Rett's disorder or childhood integrative disorder

35. Autism DSM IV 1994, DSM IV-R 2000 Criteria for diagnosis
Six or more items from 1, 2, and 3
Social – at least 2 criteria met
Communication – at least 1 criterion met
Stereotyped behavior – at least 1 criterion met
Delays or abnormal function before age 3 yr in at least one of
Social interaction
Language in social communication
Symbolic or imaginative play

36. Autism DSM IV 1994, DSM IV-R 2000 Criteria for diagnosis
The disturbance is not better accounted for by Rett's disorder or childhood integrative disorder

37. Asperger's Disorder DSM IV-R
1. Qualitative impairment in social interaction
Multiple nonverbal behaviors
Eye-to-eye gaze
Facial expression
Body postures
Gestures to regulate social interaction
Failure to develop peer relationships
Lack of spontaneous seeking to share enjoyment, interests, or achievements
Lack of social reciprocity

38. Asperger's Disorder DSM IV-R
2. Restricted, repetitive, and stereotyped pattens of behavior, interests, and activities
Abnormal in intensity or focus
Inflexible adherence to specific nonfunctional routines or rituals
Stereotyped and repetitive motor mannerisms
Hand flapping
Complex whole body movements
Persistent preoccupation with parts of objects

40. Start of the epidemic

41. Prevalence
1 in 80 and 1 in 240 with an average of 1 in 110 children in the United States have an ASD.
Occur in all racial, ethnic, and socioeconomic groups, yet are on average
4 to 5 times more likely to occur in boys than in girls.
If 4 million children are born in the United States every year, approximately 36,500 children will eventually be diagnosed with an ASD.

42. Prevalence
About 730,000 individuals between the ages of 0 to 21 have an ASD.
Studies in Asia, Europe, and North America have identified individuals with an ASD with an approximate prevalence of 0.6% to over 1%.
A recent study in South Korea reported a prevalence of 2.6%.
Approximately 13% of children have a developmental disability, ranging from mild disabilities such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities, cerebral palsy, and autism.

43. Asperger's Syndrome
Persons with the syndrome are often workaholics, highly persistent, content with their own company and solitary artistic occupations; they focus on detail with massive curiosity and total immersion; they are novelty-seekers in terms of their art, with massive imagination in their specialised spheres. They are also far less influenced by previous or contemporary artists in their work than are ‘neurotypicals’. It appears that the autistic artist, because of his or her rather diffuse identity and diffuse psychological boundaries, has the capacity to do what the artist George Bruce described as being necessary for art: ‘One must not just depict the objects, one must penetrate them, and one must oneself become the object’.”
Michael Fitzgerald, Henry Marsh Professor of Child and Adolescent Psychiatry, Trinity College Dublin in “The Genesis of Artistic Creativity: Asperger’s Syndrome and the Arts”

44. Risk Factors and Characteristics
Among identical twins, if one child has an ASD, then the other will be affected about 60-96% of the time.
In non-identical twins, if one child has an ASD, then the other is affected about 0-24% of the time.
Parents who have a child with an ASD have a 2%–8% chance of having a second child who is also affected.

45. Risk Factors and Characteristics
About 10% of children with an ASD have an identifiable genetic, neurologic or metabolic disorder, such as fragile X or Down syndrome.
30-51% (41% on average) of the children who had an ASD also had an Intellectual Disability (intelligence quotient <=70).

46. Genetics
Studies show that 5% of people with an ASD are affected by fragile X and 10% to 15% of those with fragile X show autistic traits.
One to four percent of people with ASD also have tuberous sclerosis.
About 40% of children with an ASD do not talk at all. Another 25%–30% of children with autism have some words at 12 to 18 months of age and then lose them. Others may speak, but not until later in childhood

47. Epidemiology
The ADDM Network is a group of programs funded by CDC to determine the number of people with ASDs in the United States.
ADDM sites all collect data using the same surveillance methods, which are modeled after CDC’s Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP).
The average ASD prevalence was 8 per 1,000 8-year-olds in and 9 per 1,000 8-year-olds in 2006 in several areas of the United States
1 in 110 children.

48. Epidemiology
Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP)
MADDSP was established to determine all children who have one or more of four developmental disabilities -- mental retardation, cerebral palsy, hearing loss, and vision impairment - - in the metropolitan Atlanta area.
Autism spectrum disorder was added as a fifth disability beginning in the 1996 study year.
The ASD prevalence was 10.2 per 1,000 8-year-olds in the surveillance year.

49. Epidemiology
CDC conducts two nationally representative surveys that provide data on health conditions in U.S. children: the National Survey of Children’s Health (NSCH) and the National Health Interview Survey (NHIS).
Estimates of diagnosed autism in were 5.7 per 1,000 school-age children from the National Health Interview Survey and 5.5 per 1,000 school-age children from the National Survey of Children's Health.
Both surveys showed that boys were nearly four times more likely than girls to have been diagnosed with autism.
National Survey of Children’s Health, 2009: approximately 1% of children are affected with an ASD.

50. Epidemiology Early ASD Surveillance Development Project
CDC is funding two sites—the California Department of Health Services and Florida State University—to develop and test projects to identify the number of children under 4 years of age with ASDs.

51. Epidemiology
In late 1997, a citizen’s group in Brick Township, New Jersey, told the state Department of Health and Senior Services (DHSS) about what seemed to be a larger- than-expected number of children with autism in Brick Township.
The prevalence of ASDs was 6.7 per 1000 children. The prevalence of ASDs in Brick Township seems to be higher than that in other studies, particularly studies conducted in the United States, but within the range of a few recent studies in smaller populations that used more thorough case-finding methods.

52. Nobody knows What Cause Autism?
Hypotheses include obstetric complications, infection, genetics, and toxic exposures

53. MMR Vaccine and Autism
“The evidence favors a rejection of a causal relationship at the population level between MMR vaccine and autism spectrum disorders (ASD).”
- Institute of Medicine, April 2001

54. Diagnosis A comprehensive evaluation
Psychologist, neurologist, psychiatrist, speech therapist, and other professionals who diagnose children with ASDs.
Thorough neurological assessment and in-depth cognitive and language testing.
Children with delayed speech development should also have their hearing tested.
Screening tools: MCHAT

55. Treatment Behavior therapy Communication therapy Medical therapy
Dietary therapy
Complementary therapy
Educational support

56. Getting better all the time....
From the 1960s through the 1970s, research into treatments for autism focused on medications such as LSD, electric shock, and behavior change techniques. The latter relied on pain and punishment.
During the 1980s and 1990s, the role of behavior therapy and the use of highly controlled learning environments emerged as the primary treatments for many forms of autism and related conditions.

57. Behavior and Communication Therapy
The primary treatment for autism addresses several key areas.
Behavior, communication, sensory integration, and social skill development.
Requires close coordination between parents, teachers, special education professionals, and mental health professionals.
Therapists use highly structured and intensive skill- oriented training sessions to help children develop social and language skills, such as Applied Behavioral Analysis (ABA)

58. Medical and Dietary Therapies
Goal of medication is to make it easier for the person with autism to participate in activities such as learning and behavior therapy.
Anxiety, depression
Attention problems, hyperactivity, and impulsivity
Some evidence that people with autism may have certain deficiencies in vitamins and minerals.
Vitamin B and magnesium
Food allergies may make behavior problems worse

59. Complementary Therapies
Help increase learning and communications skills in some people with autism.
Music, art, or animal therapy, such as horseback riding or swimming with dolphins.

60. Prognosis Highly correlated with IQ.
Low-functioning patients may never live independently
High-functioning individuals with autistic disorder are similar to people with Asperger syndrome.
Remission is reported in anecdotal case reports.

61. Prognosis
Because deficits in language and communication are often major impediments to progress in educational, work, and personal settings, specialized communication therapies and devices and training are often helpful.
People with developmental disabilities are vulnerable to sexual abuse. The most severely disabled are at highest risk for sexual abuse.
Children with Asperger syndrome must be trained to recognize impending sexual abuse and to develop plans of action to abort possible sexual abuse.

62. Outcome
For many children, symptoms improve with treatment and with age
Children whose language skills regress early in life— before the age of 3—appear to have a higher than normal risk of developing epilepsy or seizure-like brain activity.
During adolescence, some may become depressed or experience behavioral problems
People with an ASD usually continue to need services and supports as they get older, but many are able to work successfully and live independently or within a supportive environment.

63. The End