brian bonfardin m.d. brianbonf@aol.com clinical faculty etsu dept. of psychiatry

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)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.