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 PediatricsAssociate Adjunct Clinical Professor

Edward Via Virginia College of Osteopathic Medicine

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:NoneThe planning committee members reported no relevant financial relationships to disclose

DON'TBE

AFRAID

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.

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.

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.

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.

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.

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).

British Journal of Disorders of Communication 24, 107-121 (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

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

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.

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

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.

The Autism Group

• Pervasive development disorders (PDD)

– Autism

– Asperger's disorder

– Pervasive developmental disorder NOS

– Rett syndrome

– Childhood integrative disorder

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.

“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

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.

Socially appropriate?

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.

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.

DSM

Diagnostic and

Statistical Manual of

Mental Disorders

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

Autism DSM II 1968

Schizophrenia, childhood type

Symptoms appear before puberty

May be manifested byAutistic, 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

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 patternsEcholalia

Metaphorical language

Pronominal reversal

Bizarre response to environmentResistant to change

Peculiar interests or attachments

Absence of delusions, hallucinations, loosening of associations, and incoherence

Autism DSM III-R 1987

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

A. Qualitative impairment in reciprocal social interaction

Autism DSM III-R 1987

No mode of communicationBabbling, facial expression, gesture, mime, spoken language

Abnormal nonverbal communicationEye-to-eye, facial expression, body posture, gestures to initiate or modulate

social interaction

Absence of imaginative activity

Abnormal speechVolume, pitch, stress, rate, rhythm, intonation

B. Qualitative impairment in verbal and nonverbal communication

Autism DSM III-R 1987

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

B. Qualitative impairment in verbal and nonverbal communication

Autism DSM III-R 1987

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

C. Restricted repertoire of activities and interests

Autism DSM IV 1994, DSM IV-R 2000

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

1. Qualitative impairment in social interaction

Autism DSM IV 1994, DSM IV-R 2000

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

2. Qualitative impairment in communication

Autism DSM IV 1994, DSM IV-R 2000

Abnormal in intensity or focus

Inflexible adherence to specific nonfunctional routines or rituals

Stereotyped and repetitive motor mannerismsHand flapping

Complex whole body movements

Persistent preoccupation with parts of objects

3. Restricted, repetitive, and stereotyped pattens of behavior, interests, and activities

Autism DSM IV 1994, DSM IV-R 2000

Delays or abnormal function before age 3 yr in at least one ofSocial interaction

Language in social communication

Symbolic or imaginative play

The disturbance is not better accounted for by Rett's disorder or childhood integrative disorder

Autism DSM IV 1994, DSM IV-R 2000

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 ofSocial interaction

Language in social communication

Symbolic or imaginative play

Criteria for diagnosis

Autism DSM IV 1994, DSM IV-R 2000

The disturbance is not better accounted for by Rett's disorder or childhood integrative disorder

Criteria for diagnosis

Asperger's Disorder DSM IV-R

Multiple nonverbal behaviorsEye-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

1. Qualitative impairment in social interaction

Asperger's Disorder DSM IV-R

Abnormal in intensity or focus

Inflexible adherence to specific nonfunctional routines or rituals

Stereotyped and repetitive motor mannerismsHand flapping

Complex whole body movements

Persistent preoccupation with parts of objects

2. Restricted, repetitive, and stereotyped pattens of behavior, interests, and activities

Start of the epidemic

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.

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.

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”

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.

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).

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

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 2004 and 9 per 1,000 8-year-olds in 2006 in several areas of the United States

• 1 in 110 children.

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 2006 surveillance year.

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 2003-2004 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.

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.

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.

What Cause Autism?

Nobody knowsHypotheses include obstetric complications, infection, genetics, and toxic exposures

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

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

Treatment

Behavior therapyCommunication therapyMedical therapyDietary therapyComplementary therapyEducational support

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.

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)

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

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.

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.

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.

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.

The End