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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)Histidinemia
Creatine DeficiencyMetabolic Purine DisorderMitochondrial Disorders
Storage Diseases (Ceroid, Polysaccharides)
Fragile XDown SyndromeTurner Syndrome
Angelman SyndromePrader Willi
NeurofibromatosisTuber SclerosisSoto Syndrome
William’s Syndrome
Congenital RubellaInfantile SpasmsLennox GastautLandua-Kleffner
ASD
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.
Kanner’s
Autism
Rhett’s
PDD NOS
Aspergers
CDD
Classic
Autism
Genetic
Atypical
Mainly Social Impairments
Medical
Epidemiology
• “90% of Autism is Genetic.”
• Not related to environment.
• No clear drug or chemical causes.
• Autism 5-10/10,000.• PDD NOS 8-5/10,000.• Aspergers 2-60/10,000.• Total 15-85/10,000.
• Prevalence of 1/1000 or greater.
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.
PDD1/160
Rhett’s Syndrome
Childhood Disintegrative disorder
Autism PDD NOS
Asperger’s Syndrome
PDD1/160
Rhett’s Syndrome1/15,000
Childhood Disintegrative disorder1/10,000
Autism1/1000
PDD NOS1/1000
Asperger’s Syndrome
2/1000
PDD1/160
Rhett’s Syndrome1/15,000
Most severe
Childhood Disintegrative disorder1/10,000
Autism1/1000
PDD NOS1/1000 Asperger’s
Syndrome2/1000Least
severe
PDD1/160
Rhett’s Syndrome1/15,000
Most severeMost
Medical
Childhood Disintegrative disorder1/10,000
Autism1/1000
PDD NOS1/1000 Asperger’s
Syndrome2/1000Least
severeLeast
Medical
PDD1/160
Rhett’s Syndrome1/15,000
Most severeMost
MedicalBehavioral problems
Childhood Disintegrative disorder1/10,000
Autism1/1000
PDD NOS1/1000
Asperger’s Syndrome
2/1000Least
severeLeast
MedicalCommon
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 Autis
mPDD NOS AS BAP
Genetic
Medical
Autism
ASDWith Psych
Social Deficit
sNorm
al
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.
