1. Autism Spectrum Disorders
Judith A. Axelrod, M.D.
Developmental-Behavioral Pediatrician
Square One Specialists in Child and Adolescent Development
Professor of Pediatrics
University of Louisville School of Medicine

2. Disclosures
A. “I have no relevant financial relationships with the manufacturers of any commercial products and/or provider of commercial services discussed in this CME activity.”
B. “I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation.”

4. Autism Spectrum Disorder
Described in 1943 by Dr. Leo Kanner
Study of 11 children
Early infantile autism
Characterized by social differences
Dr. Hans Asperger
Described milder form of disorder
Asperger syndrome

5. Autism Spectrum Disorder/ Pervasive Developmental Disorders
DSM-IV-TR (APA, 2000)
5 disorders under the PDD umbrella
Qualitative impairments of communication
Qualitative impairments of social skills
Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities

6. PDD Umbrella
Asperger’s
Autism
Childhood
Disintegrative
N.O.S.
Rett’s

7. Autism Spectrum Disorders
Social communication skills<cognitive skills
PDD-NOS
Sub-threshold Autism
Asperger Syndrome
Social interaction deficits and restricted interests
Child Disintegrative Disorder
Normal development for first 2 years of life
Rett Syndrome

8. Social Communication Disorders
Autism
Asperger’s Disorder
Pervasive Developmental Disorder, NOS

9. Development of social communication
Within the first and second year of life children develop:
Sense of self
Capacity to judge form evidence
Ability to integrate ideas from past experience
Ability to appreciate psychological state of another person

10. Social communication
Teasing
Helping
Comforting

11. Development of social communication
During the first and second year of life children
Show interest in other people
Show curiosity about feelings and thoughts

12. Pretend
Make believe play

13. Social Communication requires:
Joint attention
Effective reciprocity or emotional sharing
The ability to realize that another person has thoughts and ideas similar to you

14. Theory of Mind Understanding the desires of another
Understanding the emotional state of another person
Having the ability to figure out what a person’s intentions are
Knowledge that what you are thinking can be conveyed to others through nonverbal means

15. Case study
Joseph is a 2 ½ year old male who lives “in his own world”. During his first year of life he was playful and interactive. He spoke single words at 8 months. At 15 months he had a 9-15 word vocabulary. At 18 months an insidious regression of his language and communication skills began. By 2 years, Joseph spoke 4 words; he did not give eye contact. He did not share his joys.

17. Autism Spectrum Disorder
Neurobiological disorder
Inconsistency of development
Expression of symptoms varies with age and developmental level of person

18. Autism Universally considered a neurobiological disorder
No specific etiology
Likely complex etiology
Genetics
Environmental factors
Associated conditions

19. Genetic Aspects 5% recurrence risk
Concordance in 90% monozygotic twins
Concordance in <10% dizygotic twins
Mild associations with genetic syndromes
Fragile X syndrome (3%)
Tuberous Sclerosis (2-5%)

20. Associated with Autism perhaps by chance
Neurofibromatosis
Cornelia de Lange Syndrome
Angelman Syndrome
Down Syndrome
Intrauterine exposure to:
Rubella
CMV
Varicella

21. Autism Facts Common (1:160) More common in boys
Occurs across all populations
Cause is not known
Considered a spectrum disorder

22. Associated medical conditions
Mental retardation
Seizures
Two phases of presentation
Early childhood
Late adolescence
Linked to evidence of brain dysfunction/damage

23. Autism through the lifespan
Infants and toddlers
Easy going “too good” baby
Baby with sensory processing abnormalities
Difficulty regulating behavior
Overexcited, fussy, crying inconsolably

24. Infants and Toddlers Poor imitation Abnormality in eye contact
Under responsive to people
Bland facial expressions with less smiling
High tolerance to pain, cold, or heat
Hypersensitive to taste, touch

26. Early Indicators Lack of pretend play No point to express interest
Poor joint attention
Inefficient use of eye gaze
Communication deficits
Poor response to name

27. Other Indicators Speech delay Acts as if cannot hear well/ignores
In own world
Abrupt decline in use of words mos.
Repetitive play
Unusual play/TV preferences

29. Early Childhood Typically most obvious signs and symptoms of Autism
Ages 4-5 years standard age in determining severity of Autism
Repetitive and stereotypic behaviors emerge and peek at 5-7 years
Special interests and sameness emerge
Obsessions and compulsions

30. Common Features Repeated body movements/stereotypies
Hand flapping, pacing, unusual inspection, opening and shutting doors, staring at lights
Attachments to objects
Resistance to change
Difficulties with transitions
Aggression
Self injurious behaviors (rare)

31. Common Features, continued
Sensory issues
Difficulty with generalization
Overselectivity
Splinter skills

33. Middle Childhood Subtypes emerge Stereotypies diminish
Aloof
Passive
Active but odd
Stereotypies diminish
Divergence of population with language acquisition and developing cognitive skills

34. Associated findings Clumsiness Dyspraxia
Sensory processing difficulties
Hypotonia
Joint laxity
Toe walking

35. Adolescents Continued difficulty with social and pragmatic language
Some seek to develop social skills
Refinement of special interests
Increased anxiety, some have deterioration but regain later

36. Adults Vastly differing outcomes
1/3 able to care for self, achieve some independence, have some friends, live independently or with support, work
Nearly 70% have fair to good language
Marriage is rare

37. Adults continued About 45% have poor outcome
Dependent on family or living in residential setting
Major seizures, behavioral problems, continued dependency
Increased rates of depression and anxiety

38. PDD Umbrella
Asperger’s
Autism
Childhood
Disintegrative
N.O.S.
Rett’s

39. Asperger syndrome continued
No apparent cognitive impairment
No apparent receptive or expressive language impairment

40. Asperger Syndrome Impairment in social interaction
Restricted, repetitive, and stereotyped patterns of behavior

41. Ian is a 12 yr old who is described as a bright,
witty, intelligent youngster who talks constantly. He is curious and persistent. He is anxious, argumentative and has trouble with transitions. Ian has a history of repetitive behaviors described as facial grimacing, finger rituals. He has unusual speech patterns. Adults are more tolerant of him than same aged peers. He has few friends. Parents report
that Ian is an only child because life is very difficult with him and he requires much time and effort. Ian has Asperger Disorder.

42. Asperger Syndrome Normal language development
No delay in receptive and expressive language milestones
Language skills are defined as normal especially in early life
No delay in cognition or adaptive behaviors in early life

43. Asperger Syndrome Qualitative impairments in social interaction
1. Impaired nonverbal behavior
Poor eye gaze
Poor use of facial expression
Poor use of gestures to regulate interaction

44. Asperger Syndrome Qualitative impairments in social interaction
Impaired social communication
Rigid
Excessive or tedious
Pedantic
Narrow range of interests

45. Nonverbal Learning Disorders
Some experts believe that NLD and Asperger Syndrome are one and the same
Clinical presentation is similar with Asperger Syndrome

46. NLD Characteristics
Composed of a constellation of skill deficits that impact all aspects of living.
Poor nonverbal problem solving
Significant discrepancy between verbal and nonverbal cognitive abilities
Much lower nonverbal than verbal

47. NLD continued
Difficulty correctly processing and attending to tactile and visual modalities.
Psychomotor coordination difficulties or physical awkwardness.
Specific weaknesses in social perception and social judgment.
Significant problems in adapting to new or complex situations.

48. NLD Risks
Social withdrawal and social isolation which may worsen as they get older.
Predisposed to have internalizing psychological disorders such as depression and anxiety.
Often diagnosed (misdiagnosed?) with ADHD due to poor organizational skills, poor planning and impulse control difficulties.
Perceptual difficulties of NLD can interfere with reading, math, spelling.

49. PDD Umbrella
Asperger’s
Autism
Childhood
Disintegrative
N.O.S.
Rett’s

50. PDD:NOS/Atypical Autism
Criteria not met for another ASD/PDD
Impairments in social interaction WITH
Impairments in verbal and nonverbal interactions
OR stereotyped behaviors, interests or activities

51. Autism Spectrum Disorders: Associated problems
Attention problems
Impulse control difficulties
Sleep problems
Obsessive compulsive behaviors
Self-injurious behaviors
Tics
Depression
Anxiety

52. PDD Umbrella
Asperger’s
Autism
Childhood
Disintegrative
N.O.S.
Rett’s

53. Childhood Disintegrative Disorder
Normal development 1st 2 years
Significant loss of skills (before 10 years) in at least 2 areas:
Expressive or receptive language
Social skills or adaptive behavior
Bowel or bladder control
Play
Motor skills

54. Childhood Disintegrative con’t
Abnormalities of functioning in at least 2 of the following areas:
Qualitative impairment in social interaction
Qualitative impairments in communication
Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities

55. Level One Assessment A screening
Developmental surveillance by providers performed at every well child visit
A starting level evaluation for children referred for developmenal difficulties

56. Level One, continued Use broad-band screening questionnaires
Listen to parental concerns about child’s development
Ask specific developmental probes regarding speech-language, social, and behavioral development

57. Examples of Parent Concerns
Acts as if cannot hear well
Not talking like should
Acts as if in his own world
A loner
Does same play over and over
Odd interests

58. Absolute Indicators for Level Two Evaluation
No babbling by 12 months
No gesturing by 12 months
No single words by 16 months
No 2-word spontaneous phrases by 24 months
Any loss of any language or social skills at any age

59. Diagnosis and Assessment of Autism
Level Two Evaluation
Diagnosis and Assessment of Autism

60. Diagnostic Toolbox Input from team Input from parents
Input from school
Direct observation
Cognitive measures
Adaptive measures
Diagnostic measures
Clinical judgment

61. Cognitive Measures
No cognitive pattern confirms or excludes a diagnosis of Autism (but may help in differentiation of Asperger Syndrome or Nonverbal Learning Disorder).
Essential for educational planning
Provides a full range of standard scores (floor)

62. Adaptive Measures Essential in the diagnosis of mental retardation
Provides information regarding social and communication functioning
Example:
Vineland Adaptive Behavior Scales

63. Input from Speech-Language Pathologist
Measures of receptive language
Measures of expressive language, including both communicative means (how) and communicative functions (why)
Measures/observations of play and social skills
Pragmatics

64. Medical Diagnostic Measures
Comprehensive Physical and Neurological examination
Laboratory evaluation
High resolution chromosome analysis
DNA for Fragile X Syndrome
Thyroid function testing
Plasma amino acid screen
Urine Organic acids
Comparative Genomic Hybridization Study

65. Medical Diagnostic Measures
MRI of brain
Sleep deprived EEG

66. Screening and Diagnostic Measures
Various standardized questionnaires and structured interviews are part of a thorough assessment for ASD.
Standardized measures can help by providing information regarding:
Symptoms
Primary domains of deficits
Severity of symptoms / deficits

67. Screening and Diagnostic Measures
Autism Diagnostic Interview – Revised
Autism Diagnostic Observation Schedule
Childhood Asperger Syndrome Test
Checklist for Autism in Toddlers
Social Communication Questionnaire
Gilliam Autism Rating Scale
Childhood Autism Rating Scale

69. Intervention Early identification Speech-Language Therapy
Occupational Therapy
Physical Therapy
Interaction with same aged normal peers

70. Intervention Development of a communication system
Picture Exchange Communication System (PECS)
Visual schedules
Visual cues
Social skills training
Social stories
Play groups

71. Intervention
Analysis of behavior for appropriate behavioral intervention (e.g., ABA)
Intensive behavioral approach
Goal is to teach children how to learn by focusing on building blocks of development
Developmental, individual-difference, relationship-based (DIR) / Floortime
Use of play to build relatedness (e.g., warmth, pleasure, meaningful communication, creativity)

73. Educational Intervention
Teachers need specific training in the education of children with Autism
Intensive Speech-Language therapy
Collaboration between therapist, parents, and teacher is critical
Promote behaviors with positive behavioral strategies
Use of visual and manipulative educational materials

74. Educational Intervention
Visual communication aids
Visual schedule, chart of daily activities
Social skills training
Buddy system
Social stories
Positive reinforcement for positive behaviors

75. Key Issues for Intervention
Early intervention is critical
Communication
Social Skills Development
Gradual increase in prosocial behaviors
Development of self & awareness of others

76. Medication There are no medications that “cure”
Autism. Medication should be used for
specific symptoms.

77. Specific symptoms for medication
Anxiety
Obsessive-Compulsive behaviors
Depression
Self abusive behaviors
Aggression
Sleep deprivation

78. Medications Used Selective Sertonin Reuptake Inhibitors (SSRI)
Prozac (Fluoxetine)
Zoloft (Sertraline)
Celexa (Citalopram)
Neuroleptics
Risperdal(Risperidone)
Zyprexa (Olanzapine)
Geodon (Ziprasidone)
Abilify (Aripiprazole)

79. Medications Used Continued
Alpha adrenergic agonists
Clonidine
Guanfacine
Mood stabilizers
Depakote (Valproic acid)
Tegretol (Carbamazepine)
Antiopiod
Naltrexone

80. Alternative Therapies unproved
Gluten-Casein Free Diet
Based on toxicologic opioid hypothesis
Nutritional Supplements
Based on hypothesis that minerals and/or vitamins improve “autistic behaviors”
Immune globulin therapy
Based on assumption Autism is an autoimmune abnormality
Secretin
Intravenous hormone that stimulates pancreas and liver to manage “autistic behaviors”
Chelation
Based on hypothesis that mercury exposure is cause of Autism

81. Autism and learning The child with autism can learn skills for
communication, can develop the skills for
emotional and social relationships, and
can learn to diminish stereotypical
behavior. No one particular program works for all children.

82. Autism
Autism is a lifelong developmental disorder.

83. Autism There is no “cure” for Autism.
Prognosis is dependent on cognition and the ability to develop social skills.
Early intervention is critical and optimizes treatment.

84. The following organizations can offer information and support:
Autism Society of America (ASA) Woodmont Avenue, Suite 300, Bethesda, Maryland , AUTISM,
National Autism Hotline, P.O. Box 507, Huntington, West Virginia , (304) , fax (304)
Autism Research Institute, Adams Avenue, San Diego, California 92116, (619) , fax
MAAP, More Advanced individuals with Autism, Asperger’s syndrome and Pervasive Developmental Disorder,

85. Information and Support
Autism Society of Kentuckiana P.O. Box 90, Pewee Valley, KY 40056,
Autism Society of the Bluegrass Shady Lane, Lexington, KY , (859)
Indiana Resource Center for Autism Susan Pieples, President P.O. Box 1064, Carmel, Indiana (317) ,

86. Information and Support
University of Louisville Autism Center at Kosair Charities, 1405 E. Burnett Avenue, Louisville KY 40217, (502)
FEAT of Louisville 1100 East Market Street Louisville KY (502)