Brian Bonfardin M.D.
brianbonf@aol.com
Clinical Faculty ETSU Dept. of Psychiatry
Disclosure Statement of
Financial Interest
• I, Brian Bonfardin, M.,D.,
DO have a financial
interest/arrangement or affiliation with
one or more organizations that could
be perceived as a real or apparent
conflict of interest in the context of the
subject of this presentation. These
are: Otsuka & Novartis
Objectives
1.
Conceptualize the clinical
importance of autistic symptoms
on a spectrum.
2. Understand the discrete parts of
the autistic spectrum.
3. Pinpoint the differences of
treatment along the spectrum.
4. Appreciate the flaws in the
concept of a spectrum.
History of DSM and Autism
• 1968: DSM II used the label autism to describe
childhood schizophrenia.
• 1980: DSM III included Autism as Infantile
Autism.
• 1994: DSM IV introduced PDD with 5
subtypes.
•
Types
of
PDD
DSM IV labels basically historical labels.
• Usefulness and connection of labels were
questioned.
• Coincided with a new clinical awareness of
ASD.
• Triggered the “Asperger’s awakening.”
PDD
Rhett’s
Syndrome
Childhood
Disintegrative
disorder
Autism
PDD NOS
Asperger’s
Syndrome
Rhett’s Syndrome
• 1966 Andreas Rhett published reports of girls with
similar symptoms.
• 1983 Bengt Hagberg introduced Rhett’s to Annals
of Neurology.
• 1999 Ruthie Amir discovered MECP2 X- linked
dominant disorder.
• Methyl Cytosine Binding Protein dysregulation.
Rhett’s Syndrome
• Cerebroatrophic Hyperammoneia starts at 6
to 18 months of age.
• Hand wringing, washing/clapping
movements, head growth stops.
• Prone to apnea/hyperventilation.
• Limited awareness, seizures and motor loss.
Childhood Disintegrative Disorder
(CDD)
• 1908 Theodor Heller described dementia
infantilis marked by psychosis.
• After 2 years normal development abrupt
onset of ASD in severe form and loss of motor
skills.
• Rare cause of ASD.
Phenylketonuria (PKU)
Fragile X
Histidinemia
Down Syndrome
Creatine Deficiency
Turner Syndrome
Metabolic Purine Disorder
Angelman Syndrome
Mitochondrial Disorders
Storage Diseases (Ceroid, Polysaccharides)
Prader Willi
ASD
Neurofibromatosis
Congenital Rubella
Tuber Sclerosis
Infantile Spasms
Soto Syndrome
Lennox Gastaut
William’s Syndrome
Landua-Kleffner
Kanner’s Autism
• 1943 paper Autistic Disturbances of Affective
Contact describing 11 children.
• 1930 to 1959 directed Johns Hopkins Child
Psychiatry.
• 1960’s to 1970’s oversaw and edited Journal of
Autism.
Classic Autism
• Noticeable social problems at 1 year of age.
• Plateau or regression at 10 to 30 months.
• Core symptoms: social skills, communication,
restricted interests.
• Subsequent intellectual, sensory and motor
disabilities.
• Variety of behavioral problems.
PDD NOS
• Atypical Autism doesn’t meet all three categories.
• Clear causative factor (genetic, sensory, medical).
• Later age of onset.
• Milder (IQ, motor, sensory) than Classic Autism.
•
Aspergers Syndrome
• 1944 Autistic Psychopaths in Childhood
described four “little professors” with mild
ASD symptoms.
• 1981 Lorna Wing added AS to ASD.
• 1991 Uta Frith translated original paper
adding much to concept.
Rhett’s
CDD
Kanner’s
Autism
Aspergers
PDD
NOS
Genetic
Medical
Classic
Autism
Mainly Social Impairments
Atypical
Epidemiology
• “90% of Autism is
Genetic.”
• Not related to
environment.
• No clear drug or
• Autism
5-10/10,000.
• PDD NOS 8-5/10,000.
• Aspergers 2-60/10,000.
• Total
15-85/10,000.
chemical causes.
• Prevalence of 1/1000 or
greater.
120
100
80
60
40
20
0
Asperger Explosion
• ASD without Intellectual disabilities.
• Replaced A Cluster personality disorders.
• Represents social impairments.
• High Function Autism (HFA) intelligent and odd.
• Easiest to assess, study and treat.
Epidemic of Autism
• Study found a 230% increase in cases of
Autism in CA over the past 10 years.
• School systems are providing comprehensive
behavioral services for Autism in early
childhood.
PDD
1/160
Rhett’s
Syndrome
Childhood
Disintegrative
disorder
Autism
PDD NOS
Asperger’s
Syndrome
PDD
1/160
Rhett’s
Syndrome
1/15,000
Childhood
Disintegrative
disorder
1/10,000
Autism
PDD NOS
1/1000
1/1000
Asperger’s
Syndrome
2/1000
PDD
1/160
Rhett’s
Syndrome
1/15,000
Most severe
Childhood
Disintegrative
disorder
1/10,000
Autism
PDD NOS
1/1000
1/1000
Asperger’s
Syndrome
2/1000
Least severe
PDD
1/160
Rhett’s
Syndrome
1/15,000
Most severe
Most Medical
Childhood
Disintegrative
disorder
1/10,000
Autism
PDD NOS
1/1000
1/1000
Asperger’s
Syndrome
2/1000
Least severe
Least Medical
PDD
1/160
Rhett’s
Syndrome
1/15,000
Childhood
Disintegrative
disorder
Most severe
1/10,000
Autism
PDD NOS
1/1000
1/1000
Asperger’s
Syndrome
2/1000
Most Medical
Least severe
Behavioral
problems
Least Medical
Common
Psychiatric
Problems
Broader Autistic Phenotype
• Broader Autistic Phenotype is marked by
personality qualities seen in families.
• Revolves around Asperser's Syndrome.
• Aloof, rigid, anxious, social isolated, restricted
nonverbal skills.
• Deficits in Executive Functions.
Rhetts
CDD
Autism
PDD
NOS
AS
BAP
ASD
Genetic
Medical
Autism
With
Psych
Social
Deficits
Normal
Treatment Spectrum
• Rarest ASD is genetic/metabolic/medical,
most severe (least responsive to treatment).
• Mildest ASD is most common and least
medical (most responsive to treatment).
• In the middle is most typical/classic.
Behavioral Treatments
• Behavioral treatments are always the first step
prior to any medication.
• The three pillars: communication, transitional
programs, sensory integration.
• Behavioral research has focused mainly on
Intensive Behavioral Modification ABA and
communication programs.
Communication
• Programming addresses one of the core
deficits of Autism.
• Most training focuses in on picture or
symbolic language.
• Training is intensive, time consuming and
repetitive.
• Some research completed: TEACCH, PECS,
Lovaas.
Social Skills Training
• Social skills training utilizes variety of techniques
breaking down complex social behaviors.
• Communication training benefits day to day
functioning.
• Includes social cues, transition rituals, transition
objects, and picture cards.
Sensory Integration
• Uses a wide variety of stimulation—vestibular,
skin, deep touch, massage—to enrich and
calm.
• May involve cerebellar pathways and
ACH/serotonin stimulation to the brain.
• Requires training, equipment and usually daily
stimulation.
• Little research.
Benefits of Early Interventions
• Jacobson, et. al, 1998, showed a substantial
savings with Early Behavioral Interventions
(EBI).
• Treatment costs are $30,000 to $40,000 and
require 3 years of training.
• 30% of patients achieve independent living.
ASD in Remission
• Children getting early intensive treatments
can lose many symptoms of ASD.
• Move into average range in many areas.
• Stereotypy, odd movements and social
problems continue.
• More mild more likely.
ASD in DSM 5
• Little change to original Autism criteria.
• Three levels of severity based on social,
communication, and rituals/repetitions.
• Added language on supports needed.
• All historical labels lost.
Social Communication Disorder
• Impairment of pragmatics, social uses of verbal
and nonverbal communication and social
relationships.
• Functional limitations in effective
communication, social participation, academic
achievement, or occupational performance,
alone or in any combination.
SCD
• Rule out Autism Spectrum Disorder (ASD).
• Symptoms must be present in early
childhood (but may not become fully
manifest until social demands exceed
limited capacities).
ASD Spectrum
• Consistent with clinical practice.
• Level of severity of symptoms, medical, behavioral
problems and IQ loss.
• DSM V criteria based on Kanner’s Autism.
• Devoid of genetic/medical causes, qualifiers for IQ,
Behavioral or psychiatric symptoms.
• No remission concept.