Transcript Early Identification of Fetal Alcohol Syndrome, Autism and Post

Early Identification of Autism,
Post Traumatic Stress Disorder
and Fetal Alcohol Syndrome
Bob Klaehn, M.D.
Medical Director, AZDES-DDD
Faculty, Maricopa Integrated Health System
Child Psychiatry Fellowship
Board Member, ITMHCA
Onset of Autism
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In most cases (>50%) parents are worried
in the child’s first year of life
By age 2, 90% of parents are concerned
Common presenting problems include:
language delay, worries that the child may
be deaf and concerns about social deviance
Unfortunately, delays in diagnosis are still common.
Autism rarely develops after age three
Volkmar and Klin, 2003
Barriers to Autism Diagnosis
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Lack of Trained Professionals
◦ Very limited requirement for residency training in
Developmental Disabilities for Child Psychiatrists
◦ Exposure to training in Developmental Disabilities
quite variable in Psychology Graduate Programs
◦ Very small numbers of Developmental Pediatricians
(Physicians with the most familiarity of care of
children with Autism)
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Nobody likes giving bad news (in reality, most
parents are relieved that someone is validating
their concerns).
Modified Checklist for Autism
in Toddlers (M-CHAT)
Designed to be filled out by the parents and a
primary health care worker at the 18 month
developmental check up
 23 questions
 Excellent for screening for those at risk for
Autism
 In Arizona:
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The Arizona Chapter of the American Academy of Pediatrics
has distributed the M-CHAT to all pediatrician’s offices
In order to get an infant or toddler into DDD services, you
must determine only that a child is “at risk” for Autism
M-CHAT: Key Questions
Does your child take an interest in other
children?
 Does your child ever use his/her index
finger to point or indicate interest in
something?
 Does your child ever bring objects over
to you to show you something?
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M-CHAT: Key Questions (2)
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Does your child imitate you?
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Does your child respond to his/her name
when you call?
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If you point to a toy across the room,
does your child look at it?
DSM-IV
Autistic Disorder
 Rett’s Disorder
 Childhood Disintegrative
Disorder
 Asperger’s Disorder
 Pervasive Developmental
Disorder, Not Otherwise
Specified (PDD, NOS)
DSM-5
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Autism Spectrum Disorder
DSM-IV vs. DSM-5
Why continue to use the
DSM-IV diagnostic criteria for Autism?
The Division of Developmental Disabilities
(DDD) continues to use the DSM-IV
diagnostic criteria for Autism.
 Arizona Revised Statutes must be revised
before the DSM-5 can be used
 Revision of Statute requires approval by
the Legislature
DSM-IV Diagnostic Criteria for
Autism
A total of 6 of 12 diagnostic criteria must be met in the
following distribution:
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At least two criteria from the category of Qualitative
Impairment in Social Interaction
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At least one criterion from the category of
Qualitative Impairments in Communication
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At least one criterion from the category of
Restricted or Repetitive and Stereotyped Patterns of
Behavior, Interests and Activities
Diagnostic Criteria for Autism:
Impairment in Social Interaction
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1a) Marked impairment in the use of multiple
non-verbal behaviors such as eye-to-eye gaze,
facial expression, body postures and gestures
to regulate social interaction
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Examples:
◦ Trouble looking others in the eye
◦ Little use of gestures while speaking
◦ Few or unusual facial expressions
◦ Trouble knowing how close to stand to others
Examples from: Autism Spectrum Disorders: A Research Review for Practitioners;
Ozonoff, Rogers & Hendren, eds. (American Psychiatric Press, 2003)
Diagnostic Criteria for Autism:
Impairment in Social Interaction
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1b) Failure to develop peer relationships appropriate
to developmental level
Examples:
◦ Few or no friends
◦ Relationships only with those much older or younger than the
child or with family members
◦ Relationships base primarily on special interests
◦ Trouble interacting in groups and following cooperative rules of
games
Diagnostic Criteria for Autism:
Impairment in Social Interaction
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1c) A lack of spontaneous seeking to share
enjoyment, interests, or achievements with
other people (for example, by a lack of showing,
bringing or pointing out objects of interest)
Examples:
◦ Lack of joint attention
◦ Enjoys favorite activities, television shows & toys alone, without
trying to involve other people
◦ Does not call other’s attention to activities, interests or
accomplishments
◦ Little interest in or reaction to praise
Diagnostic Criteria for Autism:
Impairment in Social Interaction
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1d) Lack of social or emotional
reciprocity
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Examples:
◦ Does not respond to others, appears deaf
◦ Not aware of others; oblivious to their existence
◦ Does not notice when others are hurt or upset
◦ Does not offer comfort
Diagnostic Criteria for Autism:
Impairment in Communication
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2a) 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 gesture or mime).
Examples:
◦ No word to communicate by age 2
◦ No simple phrases by age 3
◦ After speech develops, immature grammar or repeated
errors
Diagnostic Criteria for Autism:
Impairment in Communication
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2b) Trouble holding a conversation
Examples:
◦ Trouble knowing how to start, keep going and/or end a
conversation
◦ Little “back and forth”
◦ May talk on and on in a monologue
◦ Failure to respond to the comments of others
◦ Difficulty talking about topics not of special interest
Diagnostic Criteria for Autism:
Impairment in Communication
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2c) Stereotyped and repetitive use of language or
idiosyncratic language
Examples:
◦ Repeating what others say to him/her
(echolalia, this may be immediate or delayed).
◦ Repeating words for videos, books or commercials at
inappropriate times or out of context
◦ Using words or phrases that the child has made up or that have
special meaning only to him/her
◦ Overly formal, pedantic style of speaking (sounds like a “a little
professor”).
Diagnostic Criteria for Autism:
Impairment in Communication
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2d) Play that is not appropriate for developmental
level
Examples:
◦ No imaginative play: little acting out scenarios with toys
◦ Rarely pretends an object is something else (for example, that a
banana is a telephone)
◦ Prefers to use toys in a concrete manner(building with blocks)
rather than pretending with them
◦ When young, little interest in social games like “Peek-a-boo.”
Diagnostic Criteria for Autism:
Restricted Patterns of Behavior
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3a) Encompassing preoccupation with one or more
stereotyped and restricted patterns of interest
that is abnormal either in intensity or focus
Examples:
◦ Very strong focus on particular topics to the exclusion of
other topics
◦ Difficulty “letting go” of special topics
◦ Interest in unusual topics (light bulbs, astrophysics, etc.)
◦ Excellent memory for details of special interest
Diagnostic Criteria for Autism:
Restricted Patterns of Behavior
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3b) Apparently inflexible adherence to specific, nonfunctional routines or rituals
Examples:
◦ Wants to perform certain activities in an exact order
◦ Easily upset by minor changes in route (such as taking a
different way home from school)
◦ Need for advance warning of any changes
◦ Becomes highly anxious and upset if routines or rituals are not
followed
Restricted, Stereotyped and
Repetitive Patterns of Behavior
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3c) Stereotyped and repetitive motor mannerisms
(such as hand or finger flapping or twisting, or
complex whole body movements)
Examples:
◦ Flaps hands when excited or upset
◦ Flicks fingers in front of eyes
◦ Odd hand postures or hand movements
◦ Spins or rocks for long periods of time
◦ Walks and/or runs on tiptoe
Restricted, Stereotyped and
Repetitive Patterns of Behavior
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3d) Persistent preoccupation with parts of objects
Examples:
◦ Uses objects in ways not intended (opens and closes door on
toy car instead of playing with it as a car)
◦ Interest in sensory qualities of objects (sniffs
objects or looks at them from strange angles)
◦ Likes objects that move (fans, running water, spinning wheels)
◦ Attachment to unusual objects (string or orange peel)
DSM-5 Diagnostic Criteria for
Autism Spectrum Disorder
Must meet all three of these criteria:
1) Problems reciprocating social or emotional
interaction - This can include:
◦ Difficulty establishing or maintaining back-andforth conversations and interactions,
◦ Inability to initiate an interaction, and
◦ Problems with shared attention
◦ Problems with sharing of emotions and interests
with others.
DSM-5 Autism Spectrum Disorder
2) Severe problems maintaining
relationships This can involve:
◦ A complete lack of interest in other people
◦ Difficulties playing pretend
◦ Difficulties engaging in age-appropriate social
activities,
◦ Problems adjusting to different social
expectations.
DSM-5 Autism Spectrum Disorder
(2)
3) Non-verbal communication problems This can include:
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Abnormal eye contact
Abnormal facial expressions
Abnormal tone of voice
Abnormal use of gestures or postures
An inability to understand these non-verbal
signals from other people.
DSM-V Autism Spectrum Disorder
(3)
In addition, the individual must display at least
two of these behaviors:
 Extreme attachment to routines and
patterns and resistance to changes in
routines
 Repetitive speech or movements
 Intense and restrictive interests
 Difficulty integrating sensory information or
strong seeking or avoiding behavior of
sensory stimuli
Why is Early Identification of
Children At-Risk Important?
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Increasing evidence for the importance of
early entry into treatment in minimizing risk
of long-term disability from Autism (ASD)
Multiple types of interventions target young
children with Autism (or at risk for Autism)
◦ Early Intensive Applied Behavioral Analysis
◦ Developmental Individual-difference Relationshipbased model (DIR) – Floortime
◦ Denver Model
◦ TEACHH Model
Barriers to the diagnosis of
Posttraumatic Stress Disorder
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A belief in “Man’s better nature”
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A lack of diagnostic sophistication in
public mental health (too many “NOS”
diagnoses!)
Schwartz & Perry, 1994
on the impact of Early Trauma:
“In contrast to earlier belief that early trauma had little
impact on the child, it is now recognized that early trauma
has the greatest potential impact, by altering fundamental
neurochemical processes, which in turn can affect the
growth structure and functioning of the brain.”
Let’s review PTSD criteria from
3 Diagnostic Classifications
Diagnostic Classification: Zero-to-Three
Revised
 DSM-IV
 Diagnostic Manual: Intellectual Disability,
(DM:ID) which adapts DSM-IV criteria for
persons with Mild to Moderate ID and
Severe to Profound ID
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DSM-IV and DM:ID Criteria for
Posttraumatic Stress Disorder
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Diagnostic Manual: Intellectual Disability
(DM:ID) takes the DSM-IV criteria for and
adapts them for persons with Mild-toModerate and Severe-Profound ID.
DSM-IV: A. The persons has been exposed to
a traumatic event in which both of the
following are present:
 DM-ID: No adaptation.
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DSM-IV
(1) the person has
experienced,
witnessed or was
confronted with an
event or events that
involved actual or
threatened death or
serious injury, or a
threat to the physical
integrity of self or
others
DM-ID
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No Adaptation
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Note: It appears that the
range of potentially
traumatizing events is
greater for individuals with
a lower developmental age.
Posttraumatic Stress Disorder
DSM-IV
(2) The person’s
response involved
intense fear,
helplessness or
horror.
Note: In children,
this may be expressed
instead by
disorganized or
agitated behavior.
DM:ID
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No Adaptation.
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There is considerable
evidence, however, of
increased likelihood of
disorganized or
agitated behavior in
individuals with
greater levels of
impairment.
Posttraumatic Stress Disorder
DSM-IV
B. The traumatic event is
persistently re-experienced
in one (or more) of the
following ways:
(1)
Recurrent and intrusive
distressing recollections of the
event, including images,
thoughts or perceptions.
Note: In young children, repetitive
play may occur in which themes or
aspects of the trauma are expressed
DM:ID
B. No Adaptation.
(1)
Mild to Moderate ID:
No adaptation
Severe to Profound
ID: Behavioral acting
out of the traumatic
experience is more
common for individuals of
a lower developmental age.
Some cases of self-injurious
behavior may be
symptomatic of traumatic
exposure.
Posttraumatic Stress Disorder
DSM-IV
(2) Recurrent distressing
dreams of the event
Note: In children, there may
be frightening dreams without
recognizable content
DM:ID
Mild to Moderate ID: No
Adaptation, though frightening
dreams without recognizable
content are more likely in more
impaired individuals
Severe to Profound ID:
Frightening Dreams without
recognizable content appear to
be more common in individuals
with a lower developmental age.
Posttraumatic Stress Disorder
DSM-IV
(3) Acting or feeling as if
the traumatic event
were recurring
(includes a sense of
reliving the experience,
illusions, hallucinations,
and dissociative flashback episodes,
including those that
occur on awakening or
when intoxicated).
Note: In young children, traumaSpecific re-enactment may occur.
DM-ID
Mild to Moderate ID:
No Adaptation
Severe to Profound ID:
Trauma-specific
enactments have been
observed in adults with
Moderate to Severe ID.
These episodes require
judicious assessment in that they can
appear to be symptoms of psychosis in
adults.
Posttraumatic Stress Disorder
DSM-IV
(4) Intense psychological
distress at exposure
to internal or external
cues that symbolize
or resemble an aspect
of the traumatic event
(5) Physiological reactivity
on exposure to internal
or external cues that
symbolize or an aspect
of the traumatic event
DM:ID
No Adaptation
No Adaptation
Posttraumatic Stress Disorder
DSM-IV
C. Persistent avoidance
of stimuli associated
with the trauma and
numbing of general
responsiveness (not
present before the
trauma), as indicated
by three (or more)
of the following:
DM:ID
No adaptation
Posttraumatic Stress Disorder
DSM-IV
(1) Efforts to avoid
thoughts, feelings or
conversation
associated with the
trauma
DM-ID
Mild to Moderate ID:
No adaptation
Severe to profound ID:
No Adaptation, but it
may be difficult to
assess in those with
severe verbal
limitations.
Posttraumatic Stress Disorder
DSM-IV
(2) Efforts to avoid
activities, places or
people that arouse
recollections of the
trauma
(3) Inability to recall an
important aspect of
the trauma
DM:ID
No Adaptation.
However, avoidance
behaviors may be
reported by caregivers
as non-compliance
No Adaptation, but
assessment may be
difficult
Posttraumatic Stress Disorder
DSM-IV
DM:ID
(4) Markedly diminished
interest or
participation in
significant activities
No Adaptation. May be
reported by caregivers as
non-compliance
(5) Feeling of detachment or
estrangement from others
No Adaptation. Caregivers
may report that the individual
isolates him or herself
Posttraumatic Stress Disorder
DSM-IV
(6) Restricted range of
affect
(7) Sense of a
foreshortened future
(e.g., does not expect
to have a career,
marriage, children, or
a normal life span)
DM:ID
No Adaptation
Mild to Moderate ID: Many persons
with ID do not have the same life
expectations as the typically
developed (those who are aware of
their differences). Lack of
abstraction may also decrease
ability to think about the future.
Severe to Profound ID: this
criterion may be of limited
usefulness
Posttraumatic Stress Disorder
DSM-IV
D. Persistent symptoms
of arousal (not
present before the
trauma as evidenced
by two (or more) of
the following:
(1) Difficulty falling or
staying asleep
DM:ID
No adaptation
No adaptation
Posttraumatic Stress Disorder
DSM-IV
(2) Irritability or
outbursts of anger
(3) Difficulty
concentrating
DM:ID
No adaptation
No adaptation
(4) Hypervigilance
No adaptation
(5) Exaggerated startle
response
No adaptation
Posttraumatic Stress Disorder
DSM:IV
E. Duration of symptoms
is more than a month
F. The disturbance
causes clinically
significant distress or
impairment in social,
occupational or other
important areas of
functioning
DM:ID
No adaptation
No Adaptation
Posttraumatic Stress Disorder
Developmental Responses to
Trauma – under 5 years old
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Fear of being separated from the mother or
primary caretaker and excessive clinging
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Crying, whimpering, screaming, trembling and
frightened facial expression.
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Immobility or aimless motion
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Regressive behaviors, such as thumb sucking,
bedwetting and fear of darkness
Risk Factors for Child Maltreatment
(National Center for Injury Prevention and Control, 2005)
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Disabilities or intellectual disability in children
Social isolation of families
Lack of caregiver understanding of the child’s needs and
child development
Poverty
History of domestic violence
Risk Factors for Child Maltreatment
(National Center for Injury Prevention and Control, 2005)
Substance Abuse in the family
 Caregiver stress and distress (including
parental mental health conditions)
 Young, single, non-biological parents
 Negative caregiver-child interactions
 Caregiver beliefs and emotions that
support maltreatment
 Community violence
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Factors protecting against Child Maltreatment
(National Center for Injury Prevention and Control, 2005)
Supportive family environment/stable family
relationships
 Nurturing caregiver skills
 Consistent household rules and monitoring
of the child
 Adequate housing
 Parental employment
 Access to healthcare and social services
 Caring adults outside the family who serve
as role models or mentors
 Communities that support caregivers
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Prevalence of Trauma
(National Technical Assistance Center for State Mental Health Planning, 2004)
Up to 81% of men and women in psychiatric
hospitals diagnosed with major mental
illnesses have experienced physical and/or
emotional abuse (67% experienced their
abuse as a child)
 Each year, between 3.5 – 10 million children
witness the abuse of their mother. Up to
half of these children are abused themselves.
 Massachusetts “Point-in-time” medical
review of adolescents in inpatient programs
found 84% had a history of trauma
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Prevalence of Trauma
(National Technical Assistance Center for State Mental Health Planning (NTAC), 2004)
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25% of infants ages 1-6 months are hit
50% of infants ages 6-12 months are hit
History of trauma is pervasive in youth in Juvenile
Justice system (especially minority youth)
◦ 93.2% of males and 84% of females reported a
traumatic experience (Hennessey, 2004) 18% of
females and 11% of males met full criteria for PTSD
◦ From a sample of incarcerated female juvenile
offenders:
 74% reported having been hurt or in danger of being hurt
 60% reported being raped or in danger of being raped
 76% witnessing someone being severely injured or killed
Consequences of Trauma related to Child
Psychiatric Disorders
Likely to experience both multiple
symptoms during childhood and alterations
in neurobiology
 More likely to present with symptoms of
depression and anxiety
 More likely to manifest symptoms consistent
with other diagnoses such as ADHD and
Pediatric Bipolar Disorder (NTAC, 2004)
 More likely to develop substance abuse
problems as adolescents
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Potential Misdiagnoses
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Children exposed to trauma may be
incorrectly diagnosed with ADHD due to
presence of inattention, hyperactivity and
impulsivity (Glod & Teicher, 1996)
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Diagnosis of Oppositional Defiant
Disorder or Conduct Disorder. Even if
symptoms of these diagnoses are present,
underlying trauma as a driver of these
symptoms does not occur
Potential Misdiagnoses
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Child with moodiness, temper tantrums
and low frustration tolerance may be
diagnosed with Bipolar Disorder
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Child with dissociative features, including
self-injurious and aggressive behaviors and
substance abuse may be diagnosed with
Borderline Personality Disorder
Focus on Children with Disabilities
National Clearinghouse on Child Abuse and Neglect
Information in their 2001 study found:
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21.3 per 1,000 children without
disabilities are maltreated each year
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35.5 per 1,000 children with disabilities
are maltreated each year
Sullivan & Knutson (2000)
Studied 50,278 children enrolled in public and
parochial schools in Omaha, Nebraska. Sample
included children who were in special education
or early intervention programs.
 3,262 were identified as having disabilities:
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Behavioral Disorders (37.4%)
Mental Retardation (25.3%)
Learning Disabled (16.4%)
Speech and Language Impairment (6.5%)
Orthopedic and Hearing Impairment (~1% each)
Visual Impairment and Autism (Less than 0.5% each)
Sullivan & Knutson (2000)
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Study identified 4,503 Maltreated Children; 1,102 of
these had an identified disability
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Rate of maltreatment for children without disabilities =
11%
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Rate of maltreatment for children with disabilities =
31%
Sullivan & Knutson (2000)
Relative Risk by Disability
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Children with behavioral disorders were:
◦ Seven times as likely to be physically abused,
emotionally abused or neglected
◦ Five times more likely to be sexually abused
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Children with speech and language
difficulties were:
◦ Five times more likely to be physically abused or
neglected
◦ Three times more likely to be sexually abused
Sullivan & Knutson (2000)
Relative Risk by Disability
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Children with Developmental Disorders
were four times as likely to be physically,
emotionally or sexually abused or
neglected
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Children with hearing impairments were:
◦ Four times as likely to be physically abused
◦ Twice as likely to be emotionally abused or
neglected
So, what mediates these
lifelong effects of early trauma?

Turecki and his team reported in 2012 in
Nature Neuroscience that methyl tags were
present on various parts of the gene that
encodes the glucocorticoid receptor.

Ratdke (University of Konstanz) found
similar methyl tags on the same gene in
blood samples from children born to women
who experienced domestic violence while
pregnant.
Malfunction in the Hippocampus/
Pituitary Adrenal (HPA) Axis
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Jokinen et al (Karolinska Institute) found
lingering evidence of stress response
(higher cortisol) in persons with
depression who have attempted suicide.
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Another study found that adrenal glands
weigh more in people who have
committed suicide.
Barriers to the diagnosis of
Fetal Alcohol Syndrome (FAS)
A lack of understanding of the nature of
addiction
 An unwillingness to address directly a
mother’s substance abuse
 Significant variability in the timing and
amount of alcohol use during pregnancy
 Alcohol is frequently used at the same
time as various drugs

Prevalence of FAS/FASD
In the US, the prevalence of FAS is 1-3
per 1000 live births
 The rate of FASD (Fetal Alcohol
Spectrum Disorder, formerly known as
“Fetal Alcohol Effects”) is 9.1 per 1000
live births
 “However, diagnosis may often be delayed
or missed entirely.”

Chudley, A.E., et. al. “Fetal Alcohol Spectrum
Disorder: Canadian guidelines for diagnosis,”
March 1, 2005; 172 (5 suppl)
Fetal Alcohol Syndrome (FAS)
Greek and Roman writings warned bridal
couples not to drink wine to avoid having
defective babies
 Term “Fetal Alcohol Syndrome”
introduced by Jones and Smith in 1973.
 FAS can be caused by binge-drinking
during pregnancy alone if it occurs during
a critical developmental period
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FAS: Facial Features
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Short palpebral
fissure (opening
between eyelids)
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Short and broad
nasal bridge
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Your philtrum is the
two raised ridges
under your nose
Institute of Medicine diagnostic criteria for
FAS
A. Confirmed maternal alcohol exposure
 B. Evidence a characteristic pattern of
facial anomalies
 C. Evidence of growth retardation, as in
one of the following:

◦ Low birth weight for gestational age
◦ Decelerating weight over time not due to
nutrition
◦ Disproportional low weight-to-height ratio
Institute of Medicine diagnostic
criteria for FAS

D. Evidence of Central Nervous System
neurodevelopmental abnormalities, as
in one of the following:
 Decreased cranial size at birth
 Structural brain abnormalities (microcephaly, partial
or complete agenesis of the corpus callosum or
cerebellar hypoplasia
 Neurologic signs: impaired fine motor skills,
neurosensory hearing loss, poor tandem gait or
poor eye-hand coordination
Institute of Medicine diagnostic
criteria for Partial FAS
A. Confirmed maternal alcohol exposure
 B. Evidence of some components of the
pattern of characteristic facial
anomalies
 Either C or D or E
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◦ C and D as in “Full FAS”
Institute of Medicine diagnostic
criteria for Partial FAS
E. Evidence of a complex pattern of
behavior or cognitive abnormalities that
are inconsistent with developmental level
and cannot be explained by familial
background or environment alone.
Behavioral or Cognitive
Abnormalities in FAS/Partial FAS
Deficits in higher
level receptive and
expressive language
 Poor capacity for
abstraction
 Specific deficits in
mathematical skills
 Problems in memory,
attention or
judgement
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Learning difficulties
 Deficits in school
performance
 Poor impulse control
 Problems in social
perception
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Definition for Confirmation
of Maternal Alcohol Exposure
A pattern of excessive intake characterized by
substantial, regular intake or heavy episodic
drinking, as evidenced by:
 Frequent periods of Intoxication
 Developmental of tolerance or withdrawal
 Social problems related to drinking
 Legal problems related to drinking
 Engaging in physically hazardous behavior
while drinking
 Alcohol-related medical problems such as
liver disease
Fetal Methamphetamine Syndrome
(not official, but it should be!)
Attentional problems
 Regulatory (sensory) disturbance
(consistent with DC: 0 – 3R diagnosis of
Regulation Disorder of Sensory
Processing)
 Irritability
 In boys, communication delays
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Let’s talk a bit more about
sensory issues
Hyper- and hypo-sensitivities to sensory stimuli
are very common in persons with Autism/ASD,
but never formally recognized until DSM-5
 Sensory symptoms can be treated with
medications like Tenex (Guanfacine), but don’t
respond well to the antipsychotics like Risperdal
(Risperidone) or Zyprexa (Olanzapine).
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That’s all folks!
I can be reached at:
602-771-8278
[email protected]