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What is an Autistic Spectrum Disorder?. Charlotte A. Hollman, M.D. Competencies 1.1.5S and 1.1.4S. Autistic Spectrum/Pervasive Developmental Disorders. Autistic disorder Asperger disorder Childhood disintegrative disorder Rett’s syndrome PDD-NOS.

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what is an autistic spectrum disorder

What is an Autistic Spectrum Disorder?

Charlotte A. Hollman, M.D.

Competencies 1.1.5S and 1.1.4S

autistic spectrum pervasive developmental disorders
Autistic Spectrum/Pervasive Developmental Disorders
  • Autistic disorder
  • Asperger disorder
  • Childhood disintegrative disorder
  • Rett’s syndrome
  • PDD-NOS
autistic spectrum disorders core features
Autistic Spectrum DisordersCore Features
  • Significant qualitative impairment in socialization
  • Significant qualitative impairment in communication
  • Qualitative impairment in play
  • Restricted interests & repetitive behaviors
  • Onset
    • Autism Prior to age 36 months
    • CDD 2-10 years old

1.1.1S Lists and explains the characteristics of autism (Communication, sensory responses and needs, stereotypical behavior, socialization and social skill development).

dsm iv criteria for autistic disorder
DSM-IV Criteria for Autistic Disorder
  • Qualitative impairment in social interaction

(at least 2)

    • Marked impairment in the use of multiple nonverbal behaviors to regulate social interaction
    • Failure to develop peer relations appropriate to developmental level
    • Markedly impaired expression of pleasure in other people’s happiness
    • Lack of social or emotional reciprocity
autism impaired social recognition
AutismImpaired Social Recognition

Socially

unavailable

Socially

remote

Inappropriately

interactive

Pseudo-social

Increasing age

Decreasing severity

social deficit socially unavailable
Social Deficit Socially Unavailable
  • Oblivious to surroundings
  • No seeking consolation with distress
  • Isolated and out of contact
  • Purposeless wandering
social deficit socially remote
Social DeficitSocially Remote
  • Engage in solitary activity
  • No initiation of social interaction

with adult

  • Little or no interest in peers
  • Interest in activity rather than person
social deficit inappropriately interactive
Social DeficitInappropriately Interactive
  • Difficulty initiating or maintaining interactions
  • Some interaction with adults
  • Inappropriate interaction with peers
  • Retreat into isolation with stress
social deficit pseudo social
Social DeficitPseudo-social
  • Mechanical, stilted and pedantic interaction
  • Difficulty maintaining interaction
  • Fascination with certain topics/themes
  • Verbal skills may mask social deficits
dsm iv criteria for autistic disorder1
DSM-IV Criteria for Autistic Disorder
  • Qualitative impairment in communication

(at least 1)

    • Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gestures of mime)
    • In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
    • Stereotyped and repetitive use of language or idiosyncratic language
    • Lack of varied spontaneous make-believe or social imitative play appropriate to developmental level
autism communication impairment
Autism Communication Impairment

No

communication

Communication

for needs

Speech with

tangential

comments

Cocktail

speech

Difficulty with:

Joint attention

Meta-linguistic skills

Use of language

autism impairment in social understanding
Autism - Impairment in Social Understanding
  • Impaired “Theory of Mind”
  • Difficulties with abstraction and humor
  • Poor insight regarding function
  • Problems with recognition of feelings
autism impairment in play
AutismImpairment in Play

Increasingage

Limited imaginativeplay around themes

Stereotypic play

Mechanical copying

Oral behaviors

Impairment in true symbolic play?

dsm iv criteria for autistic disorder2
DSM-IV Criteria for Autistic Disorder
  • Restricted repetitive and stereotyped patterns of behavior, interests and activities – (at least 1)
    • Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
    • Apparently compulsive adherence to specific, nonfunctional routines of rituals
    • Stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole body movements)
    • Persistent preoccupation with parts of objects
autism restricted interests repetitive behaviors
Autism - Restricted Interests & Repetitive Behaviors
  • Repetitive actions
  • Motor stereotypies
  • Compulsive behaviors
  • Desire for sameness/resistance to change
  • Fascination with themes
dsm iv criteria for autistic disorder3
DSM-IV Criteria for Autistic Disorder
  • Total of 6 items

B. Delay or abnormal functioning in at least one of the following areas, with onset prior to age three years:

    • Social interaction
    • Language as used in social communication
    • Symbolic or imaginative play

C. Not better accounted for by Rett’s disorder or childhood disintegrative disorder

Competencies 1.1.3S and 1.1.4S.

autism natural history 1 2 years old
Autism - Natural History1-2 Years Old
  • No separation anxiety
  • Poor imitation
  • Limited/no language for requests
  • Decrease in socialization and eye contact
  • Poor representational play
  • History of subtle problems in infancy
autism natural history 2 3 years old
Autism - Natural History2-3 Years Old
  • Wanderer or social loner
  • Jargon and poor speech with no gestures
  • Poor response to voice with normal hearing
  • No imitative/symbolic play
  • Fascinations/stereotypies noted
  • Possible caregiver, but poor peer, interaction
autism natural history 3 4 years old
Autism - Natural History3-4 Years Old
  • Social loner/observer
  • Appearance of words
  • Echolalia
  • Puzzle play
  • Poor symbolic play
autism natural history 4 5 years old
Autism - Natural History4-5 Years Old
  • Adult interaction
  • Peer observation
  • Echolalia
  • Use of words/phrases for requests and labeling
  • Imitative play
  • “Rough and tumble” play
autism natural history school age
Autism - Natural HistorySchool Age
  • Limited peer interaction
  • Language for needs and simple communication
  • No or restricted imaginative play
  • Persistence of fascinations and/or stereotypies
asperger disorder
Asperger Disorder
  • Impaired reciprocal social interaction
  • Higher order language problems
  • Preoccupation with circumscribed topics
  • Resistance to change in routine
  • Normal or near normal IQ
  • Impaired motor coordination
asperger disorder social impairment
Asperger DisorderSocial Impairment
  • Inability to understand/use social rules
  • Poor appreciation of social cues
  • Desire for interpersonal relationships
  • Naïve or peculiar behavior
asperger disorder communication disorder
Asperger DisorderCommunication Disorder
  • Usually normal early speech development
  • Adequate articulation and grammar
  • Odd prosody/voice
  • Literal with pragmatic dysfunction
  • Pedantic speech
  • Intense focus on restricted interests
asperger disorder nonverbal deficits
Asperger DisorderNonverbal Deficits
  • Limited use of gestures
  • Little modulation in facial expression
  • Decreased or fixed eye contact
  • Impaired interpretation/use of body language
childhood disintegrative disorder
Childhood Disintegrative Disorder
  • Normal development to 2-10 years
  • Average age of onset is 3-4 years
  • Loss of normal language, play, social skills
  • Onset of restrictive repetitive behaviors
  • Association with more severe autistic features and mental retardation
  • Prognosis for functional outcome is poor
autistic regression
Autistic Regression
  • Occurs in 20-40% of children with autistic disorder
  • Usual onset is 21 months
  • Association with seizures or EEG epileptiform activity
  • Difficulty with diagnosis due to:
    • Failure to recognize early autistic symptoms
    • Failure of physician recognition of developmental problems
what are not core criteria for an autistic spectrum disorder
What are NOT core criteria for an Autistic Spectrum Disorder?
  • Sensory issues
  • Handflapping and headbanging
  • Temper tantrums/aggression
  • Social avoidance
  • Social immaturity
  • Results of psychological testing
autistic spectrum disorder demographics
Autistic Spectrum DisorderDemographics
  • Autistic disorder 5-15/10,000ASD 10-?60/10,000
  • 3-4:1 male predominance
  • No relationship to socioeconomic status, race, culture
  • Average age of diagnosis
    • Autistic disorder 2-3 years
    • Asperger disorder 5-6 years
  • IQ<70 in 60-70% with autistic disorder
autism developmental concerns
AutismDevelopmental Concerns
  • Communication
    • No response to name
    • Absent gestures/imitation
  • Social
    • Absent social smile
    • Social loner
    • Poor eye contact
    • No interest in peers
autism developmental concerns1
AutismDevelopmental Concerns
  • Behaviors
    • Poor play abilities
    • Intense preoccupations
    • Excessive lining or objects
    • Repetitive actions
    • Inappropriate use of toys and objects
  • Loss of language or social skills
  • Younger sibling of child with ASD
autistic spectrum disorders evaluation
Autistic Spectrum DisordersEvaluation
  • Physician
  • Speech and language therapist
  • Psychologist/neuropsychologist
  • Occupational therapist
  • Social worker
  • Educational specialist
autistic spectrum disorders evaluation1
Autistic Spectrum DisordersEvaluation
  • Hearing and vision test
  • Genetic testing
    • Chromosomal analysis
    • DNA analysis for Fragile X
    • FISH for 15q region
    • DNA for MeCP2 (girls)
    • Subtelomeric probes
  • Lead screen (with oral behavior/pica)
  • EEG
    • History of regression
    • History/suspicion of seizures
autistic spectrum disorders evaluation2
Autistic Spectrum DisordersEvaluation
  • With specific clinical indications:
    • Metabolic testing
    • MRI
    • Allergy testing
  • Unproven value
    • Hair analysis for trace elements
    • Immunologic function
    • Vitamin/micronutrient assays
    • Antibody titers
autistic spectrum disorders complications
Autistic Spectrum DisordersComplications
  • Accidental injury
  • Eating selectivity
  • Sleep disturbances
  • Hyper- or hypo-sensitivity to stimuli
  • Masturbation
  • Involvement with police
what is not an autistic spectrum disorder

What is not an Autistic Spectrum Disorder?

Competencies 1.1.4S and 1.4.1S.

differential diagnosis of asd
Differential Diagnosis of ASD
  • Significant cognitive impairment
  • Developmental language disorder
  • Childhood schizophrenia
  • Anxiety disorders
  • ADHD with social immaturity
  • Affective disorders
differential diagnosis of asd1
Differential Diagnosis of ASD
  • Child neglect/abuse
  • Sensory impairment
  • Epileptic encephalopathy
  • Motor mannerisms
  • Schizoid personality disorder
  • Dementia/degenerative disorder
significant cognitive impairment
Significant Cognitive Impairment
  • Delayed skills at mental age level
  • Behavioral mannerisms more common
  • Functional improvement with age
  • Differentiation from ASD
    • Social skills at mental age level
    • Absent fascinations/stereotypies
developmental language disorders
Developmental Language Disorders
  • Impairment in expressive/receptive language development out of proportion to cognitive level
  • Differentiation from ASD
    • No dysfunction in (social) use of communication or gestures
    • Intact play and social skills
    • Absent stereotypies/fascinations
childhood schizophrenia
Childhood Schizophrenia
  • Delusions
  • Mood-incongruent hallucinations
  • Disorganized speech
  • Disorganized/catatonic behavior
  • Flat affect
  • Poverty of speech
  • Inability to initiate/sustain activities
  • Present at least 6 months
childhood schizophrenia differentiation from asd
Childhood SchizophreniaDifferentiation from ASD
  • Presence of thought disorder
  • Persistence of features without stressors
  • Later age of onset
  • Functional deterioration and symptom exacerbation over time
  • Failure to achieve expected functioning
anxiety
Anxiety
  • Apprehensive anticipation of future danger or misfortune accompanied by a feeling of dysphoria or somatic symptoms of tension and with the focus of anticipated danger being internal or external
social phobia
Social Phobia
  • Persistent fear of one or more situations (the social phobic situation) in which the person is exposed to possible scrutiny by others and fears that he or she may do something or act in a way that would be humiliating or embarrassing
anxiety disorders differentiation from asd
Anxiety DisordersDifferentiation from ASD
  • Normal development and play
  • Social and speech dysfunction situation specific
  • Absent fascinations, restricted interests, stereotypies
  • Idiosyncratic behavior may be related to obsessive-compulsive features
obsessive compulsive disorder
Obsessive-compulsive Disorder

Obsession - recurrent or persistent idea, impulse or image that is intrusive and recognized as being inappropriate

Compulsion - repetitive behavior based on rules and with a stereotypic pattern performed to suppress or diminish dysphoria related to obsession

Occurs for more than 1 hour daily and interferes with functioning

Recognized as excessive or unreasonable

Not single thought or action

obsessive compulsive disorder differentiation from asd
Obsessive-compulsive DisorderDifferentiation from ASD

Thoughts/actions perceived as unreasonable

Normal developmental milestones

Later age of onset

Intact language/communication

attention deficit hyperactivity disorder
Attention Deficit Hyperactivity Disorder
  • Immature social skills
  • Inability to sustain peer play
  • Perseverative speech
  • Resistance to change in routine
  • Association with:
    • developmental language disorder
    • anxiety disorder
adhd differentiation from asd
ADHD - Differentiation from ASD
  • Social impairment is in use or implementation of skills, not concept of socialization
  • Associated DLD usually does not impact pragmatic skills
  • Speech perserveration is not fascination
  • ADHD is not core feature of Asperger Disorder
  • No stereotypies or major fascinations (may have OCD or tics)
mood disorders mania hypomania
Mood DisordersMania/Hypomania
  • Period of persistently elevated, expansive or irritable mood
  • Symptoms
    • Inflated self esteem/grandiosity
    • Decreased need for sleep
    • Pressure of speech
    • Racing thoughts
mood disorders mania hypomania1
Mood DisordersMania/Hypomania
  • Symptoms
    • Distractibility
    • Increased goal directed activity
    • Psychomotor agitation
    • Excessive involvement in pleasurable activities
  • Unequivocal change in functioning
  • Not due to medical condition or pharmacological effect
mood disorders depression
Mood DisordersDepression
  • Depressed or irritable mood
  • Loss of interest in activities
  • Concentration problems
  • Change in sleep pattern
  • Lack of energy or excessive agitation
  • Change in appetite
  • Feelings of hopelessness
  • Suicidal ideation
mood disorders differentiation from asd
Mood DisordersDifferentiation from ASD
  • Period of normal development
  • Change in mood
  • Change in sleeping and eating pattern
  • Repetitive behaviors for organization/release
child neglect and abuse
Child Neglect and Abuse
  • Initial normal developmental milestones
  • Evolution of mood or anxiety disturbance
  • Improvement after removal from aggravating environment
sensory impairment
Sensory Impairment
  • Hearing impairment
    • Poor speech development
    • Preservation of gestures, play, socialization
  • Visual impairment
    • Difficulties with socialization
    • Intact language
    • Blindisms
epileptic encephalopathy
Epileptic Encephalopathy
  • Initial development follows expected course
  • Stagnation/regression after onset of seizures
    • Infantile spasms
    • Lennox-Gastaut syndrome
    • Myoclonic epilepsy
    • Nocturnal seizures
    • Epilepsy with cognitive symptomatology
  • Differentiation from ASD
    • No ASD features before seizure onset
    • ASD features related to seizure severity
motor mannerisms
Motor Mannerisms
  • Types
    • Hand flapping
    • Extremity/body posturing
    • Tics
  • Association with
    • Impaired motor coordination
    • Developmental language disorder
    • Anxiety and/or ADHD
  • Absent restricted interests and impaired socialization
schizoid personality disorder
Schizoid Personality Disorder
  • Little desire for relationship
  • Preference for solitary activity
  • Few close friends
  • Little need for praise or criticism
  • Emotional coldness
  • Detached/flattened affect
schizotypal personality disorder
Schizotypal Personality Disorder
  • Features of schizoid personality disorder
  • Odd beliefs
  • Magical thinking
  • Ideas of reference
  • Perceptual illusions
  • Odd thinking/unusual speech patterns
schizoid schizotypal disorder differentiation from asd
Schizoid-Schizotypal DisorderDifferentiation from ASD
  • Normal developmental history
  • Features manifest at later age
  • Development of psychotic symptoms
medication indications
Medication Indications
  • Unresponsive to nonpharmacologic intervention
  • Behavior has a negative impact on function
  • Medication-responsive problem
  • Benefits outweigh potential side effects
  • Understanding it is symptomatic treatment, not a cure
  • Not a substitute for appropriate educational and behavioral programming
problem behaviors in autism
Problem Behaviors in Autism
  • Aggression
  • Tantrums
  • Agitation
  • Self injury
  • Irritability
  • Rigidity/desire for sameness
  • Hyperactivity
  • Repetitive actions/thoughts

Competency 1.4.1S

causes of problem behaviors in autism
Causes of Problem Behaviors in Autism
  • Attention deficit hyperactivity disorder
  • Anxiety
  • Obsessive-compulsive disorder
  • Affective/mood disorders
  • Seizures
  • Tic disorder
  • Sleep disturbance
  • Unclear etiology
anxiety disorders
Anxiety Disorders
  • Separation anxiety disorder
  • Generalized anxiety disorder
  • Social phobia
  • Specific phobias
  • Obsessive compulsive disorder
anxiety treatment
Anxiety - Treatment
  • Cognitive behavioral therapy
  • Medication
    • Antidepressants
    • Anxiolytics
    • Adrenergic drugs
    • Antipsychotic drugs
    • Gabapentin (Neurontin)
antidepressants
Antidepressants
  • Imipramine (Tofranil)
  • Clomopramine (Anafranil)
  • Fluoxetine (Prozac)
  • Sertraline (Zoloft)
  • Paroxetine (Paxil)
  • Fluvoxamine (Luvox)
  • Citalopram (Celexa)
  • Escitalopram (Lexapro)
antidepressants side effects
AntidepressantsSide Effects
  • Lethargy
  • Change in appetite
  • Insomnia
  • Disinhibition
  • Unmasking/aggravation of bipolar disorder
  • Serotonin withdrawal syndrome
serotonin reuptake inhibitors
Serotonin Reuptake Inhibitors
  • Serotonin withdrawal syndrome
    • Somatic features
      • Disequilibrium
      • GI symptoms
      • Flu-like symptoms
      • Paresthesia, electric shock
      • Insomnia, vivid dreams
    • Psychological symptoms
      • Anxiety/agitation
      • Crying spells
      • Irritability
    • More likely with shorter half-life drugs and longer use
anxiolytic drugs
Anxiolytic Drugs
  • Benzodiazepines
    • Diazepam (Valium)
    • Lorazepam (Ativan)
    • Clonazepam (Klonopin)
  • Buspirone (BuSpar)
obsessive compulsive disorder treatment
Obsessive-Compulsive DisorderTreatment
  • Behavioral intervention
    • Cognitive behavioral psychotherapy
  • Pharmacotherapy
    • Serotonin reuptake inhibitors
    • Clomipramine (Anafranil)
    • Benzodiazepines
    • Antipsychotic drugs
    • Buspirone (BuSpar)
affective disorders
Affective Disorders
  • Depression
    • Disturbance of mood with depressive feelings and vegetative symptoms
  • Bipolar disorder
    • Distinct period of abnormally and persistently elevated, expansive or irritable mood
depression treatment
Depression - Treatment
  • Psychotherapy
  • Antidepressants
    • Tricyclic antidepressants
    • SSRI’s
    • Venlafaxine (Effexor)
    • Buproprion (Wellbutrin)
    • Nefazadone (Serzone)
    • Mirtazapine (Remeron)
    • Duloxetine (in development)
bipolar disorder treatment
Bipolar DisorderTreatment
  • Anticonvulsants
  • Lithium (Eskalith, Lithobid)
  • Antipsychotic drugs
    • Haloperidol (Haldol)
    • Risperidone (Risperdal)
    • Olanzapine (Zyprexa)
    • Quetiapine (Seroquel)
    • Ziprasidone (Geodon)
    • Aripiprazole (Abilify)
bipolar disorder anticonvulsants
Bipolar Disorder Anticonvulsants
  • Valproate (Depakote, Depakene)
  • Carbamazepine (Tegretol, Carbatrol)
  • Lamotrigine (Lamictal)
  • Topiramate (Topamax) as add-on?
  • Gabapentin (Neurontin) for sleep?
tic disorder
Tic Disorder
  • Sudden, rapid, recurrent, nonrhythmic stereotyped motor movement or vocalization
  • Types
    • Motor
    • Phonic (vocal)
    • Simple or complex
  • Classification
    • Transient tic
    • Chronic motor or vocal tic
    • Tourette’s syndrome
tic disorder treatment
Tic Disorder - Treatment
  • Clonidine (Catapres)
  • Haloperidol (Haldol)
  • Pimozide (Orap)
  • Risperidone (Risperdal)
  • Olanzapine (Zyprexa)
  • Ziprasidone (Geodon)
  • Fluphenazine (Prolixin)
sleep disturbance
Sleep Disturbance
  • Disorder of sleep initiation
  • Disorder of sleep maintenance
  • Parasomnias
sleep disturbance treatment
Sleep DisturbanceTreatment
  • Regular bedtime routine
  • Analysis and elimination of triggers
  • Medication
    • Melatonin
    • Clonidine (Catapres)
    • Diphenhydramine (Benadryl)
    • Benzodiazepines
    • Antidepressants
    • Antipsychotics
adhd treatment
ADHD Treatment
  • Stimulants
    • Concerta, Focalin XR, Daytrana
    • Vyvanse, Adderall XR, Dexedrine
  • Non Stimulant therapy
    • Strattera
    • Intuniv