Early Identification of Autism, Post Traumatic Stress Disorder and Fetal Alcohol Syndrome Bob...
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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
Early Identification of Autism, Post Traumatic Stress Disorder and Fetal Alcohol Syndrome Bob Klaehn, M.D. Medical Director, AZDES-DDD Faculty, Maricopa
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
Slide 2
In most cases (>50%) parents are worried in the childs 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 Onset of Autism
Slide 3
Barriers to Autism Diagnosis 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) Nobody likes giving bad news (in reality, most parents are
relieved that someone is validating their concerns).
Slide 4
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:
The Arizona Chapter of the American Academy of Pediatrics has
distributed the M-CHAT to all pediatricians offices In order to get
an infant or toddler into DDD services, you must determine only
that a child is at risk for Autism Modified Checklist for Autism in
Toddlers (M-CHAT)
Slide 5
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? M-CHAT: Key Questions
Slide 6
Does your child imitate you? Does your child respond to his/her
name when you call? If you point to a toy across the room, does
your child look at it? M-CHAT: Key Questions (2)
Why continue to use the DSM-IV diagnostic criteria for Autism?
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
Slide 9
A total of 6 of 12 diagnostic criteria must be met in the
following distribution: At least two criteria from the category of
Qualitative Impairment in Social Interaction At least one criterion
from the category of Qualitative Impairments in Communication At
least one criterion from the category of Restricted or Repetitive
and Stereotyped Patterns of Behavior, Interests and Activities
DSM-IV Diagnostic Criteria for Autism
Slide 10
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 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
Slide 11
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
Slide 12
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 others attention to activities, interests or
accomplishments Little interest in or reaction to praise Diagnostic
Criteria for Autism: Impairment in Social Interaction
Slide 13
1d) Lack of social or emotional reciprocity 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
Social Interaction
Slide 14
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
Slide 15
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
Slide 16
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
Slide 17
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: Impairment in Communication
Slide 18
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
Slide 19
3b) Apparently inflexible adherence to specific, non-
functional 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 Diagnostic Criteria for Autism:
Restricted Patterns of Behavior
Slide 20
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
Slide 21
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) Restricted,
Stereotyped and Repetitive Patterns of Behavior
Slide 22
Must meet all three of these criteria: 1) Problems
reciprocating social or emotional interaction - This can include:
Difficulty establishing or maintaining back-and- forth
conversations and interactions, Inability to initiate an
interaction, and Problems with shared attention Problems with
sharing of emotions and interests with others. DSM-5 Diagnostic
Criteria for Autism Spectrum Disorder
Slide 23
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
Slide 24
3) Non-verbal communication problems - This can include:
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-5 Autism
Spectrum Disorder (2)
Slide 25
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 DSM-V Autism Spectrum Disorder (3)
Slide 26
Why is Early Identification of Children At-Risk Important?
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 Relationship- based
model (DIR) Floortime Denver Model TEACHH Model
Slide 27
Barriers to the diagnosis of Posttraumatic Stress Disorder A
belief in Mans better nature A lack of diagnostic sophistication in
public mental health (too many NOS diagnoses!)
Slide 28
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. Schwartz & Perry, 1994 on the impact
of Early Trauma:
Slide 29
Lets review PTSD criteria from 3 Diagnostic Classifications
Lets 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
Slide 30
Diagnostic Manual: Intellectual Disability (DM:ID) takes the
DSM-IV criteria for and adapts them for persons with Mild-to-
Moderate 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. DSM-IV and DM:ID Criteria for
Posttraumatic Stress Disorder
Slide 31
Posttraumatic Stress Disorder DSM-IVDM-ID (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 No Adaptation
Note: It appears that the range of potentially traumatizing events
is greater for individuals with a lower developmental age.
Slide 32
Posttraumatic Stress Disorder DSM-IVDM:ID (2) The persons
response involved intense fear, helplessness or horror. Note: In
children, this may be expressed instead by disorganized or agitated
behavior. No Adaptation. There is considerable evidence, however,
of increased likelihood of disorganized or agitated behavior in
individuals with greater levels of impairment.
Slide 33
Posttraumatic Stress Disorder DSM-IVDM:ID 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 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.
Slide 34
Posttraumatic Stress Disorder DSM-IVDM:ID (2) Recurrent
distressing dreams of the event Note: In children, there may be
frightening dreams without recognizable content 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.
Slide 35
Posttraumatic Stress Disorder DSM-IVDM-ID (3) Acting or feeling
as if the traumatic event were recurring (includes a sense of
reliving the experience, illusions, hallucinations, and
dissociative flash- back episodes, including those that occur on
awakening or when intoxicated). Note: In young children, trauma-
Specific re-enactment may occur. 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.
Slide 36
Posttraumatic Stress Disorder DSM-IVDM:ID (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 No
Adaptation
Slide 37
Posttraumatic Stress Disorder DSM-IVDM:ID 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: No adaptation
Slide 38
Posttraumatic Stress Disorder DSM-IVDM-ID (1) Efforts to avoid
thoughts, feelings or conversation associated with the trauma 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.
Slide 39
Posttraumatic Stress Disorder DSM-IVDM:ID (2) Efforts to avoid
activities, places or people that arouse recollections of the
trauma (3) Inability to recall an important aspect of the trauma No
Adaptation. However, avoidance behaviors may be reported by
caregivers as non-compliance No Adaptation, but assessment may be
difficult
Slide 40
Posttraumatic Stress Disorder DSM-IVDM:ID (4) Markedly
diminished interest or participation in significant activities (5)
Feeling of detachment or estrangement from others No Adaptation.
May be reported by caregivers as non-compliance No Adaptation.
Caregivers may report that the individual isolates him or
herself
Slide 41
Posttraumatic Stress Disorder DSM-IVDM:ID (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)
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
Slide 42
Posttraumatic Stress Disorder DSM-IVDM:ID 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 No adaptation
Slide 43
Posttraumatic Stress Disorder DSM-IVDM:ID (2) Irritability or
outbursts of anger (3) Difficulty concentrating (4) Hypervigilance
(5) Exaggerated startle response No adaptation
Slide 44
Posttraumatic Stress Disorder DSM:IVDM:ID 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 No adaptation No Adaptation
Slide 45
Fear of being separated from the mother or primary caretaker
and excessive clinging Crying, whimpering, screaming, trembling and
frightened facial expression. Immobility or aimless motion
Regressive behaviors, such as thumb sucking, bedwetting and fear of
darkness Developmental Responses to Trauma under 5 years old
Slide 46
Disabilities or intellectual disability in children Social
isolation of families Lack of caregiver understanding of the childs
needs and child development Poverty History of domestic violence
Risk Factors for Child Maltreatment (National Center for Injury
Prevention and Control, 2005)
Slide 47
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 Risk Factors for Child Maltreatment (National Center for
Injury Prevention and Control, 2005)
Slide 48
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 Factors protecting against Child Maltreatment (National
Center for Injury Prevention and Control, 2005)
Slide 49
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 Prevalence of Trauma (National
Technical Assistance Center for State Mental Health Planning,
2004)
Slide 50
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 Prevalence of Trauma (National Technical Assistance
Center for State Mental Health Planning (NTAC), 2004)
Slide 51
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 Consequences of Trauma related to Child
Psychiatric Disorders
Slide 52
Children exposed to trauma may be incorrectly diagnosed with
ADHD due to presence of inattention, hyperactivity and impulsivity
(Glod & Teicher, 1996) 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
Slide 53
Child with moodiness, temper tantrums and low frustration
tolerance may be diagnosed with Bipolar Disorder Child with
dissociative features, including self-injurious and aggressive
behaviors and substance abuse may be diagnosed with Borderline
Personality Disorder Potential Misdiagnoses Potential
Misdiagnoses
Slide 54
National Clearinghouse on Child Abuse and Neglect Information
in their 2001 study found: 21.3 per 1,000 children without
disabilities are maltreated each year 35.5 per 1,000 children with
disabilities are maltreated each year Focus on Children with
Disabilities
Slide 55
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: 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)
Slide 56
Study identified 4,503 Maltreated Children; 1,102 of these had
an identified disability Rate of maltreatment for children without
disabilities = 11% Rate of maltreatment for children with
disabilities = 31% Sullivan & Knutson (2000)
Slide 57
Relative Risk by Disability 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
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)
Slide 58
Relative Risk by Disability Children with Developmental
Disorders were four times as likely to be physically, emotionally
or sexually abused or neglected Children with hearing impairments
were: Four times as likely to be physically abused Twice as likely
to be emotionally abused or neglected Sullivan & Knutson
(2000)
Slide 59
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. So, what mediates these lifelong effects
of early trauma?
Slide 60
Jokinen et al (Karolinska Institute) found lingering evidence
of stress response (higher cortisol) in persons with depression who
have attempted suicide. Another study found that adrenal glands
weigh more in people who have committed suicide. Malfunction in the
Hippocampus/ Pituitary Adrenal (HPA) Axis
Slide 61
Barriers to the diagnosis of Fetal Alcohol Syndrome (FAS) A
lack of understanding of the nature of addiction An unwillingness
to address directly a mothers 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
Slide 62
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)
Slide 63
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 Fetal Alcohol Syndrome (FAS)
Slide 64
Short palpebral fissure (opening between eyelids) Short and
broad nasal bridge Your philtrum is the two raised ridges under
your nose FAS: Facial Features
Slide 65
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
Slide 66
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
Slide 67
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 C and D as in Full FAS
Slide 68
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.
Slide 69
Behavioral or Cognitive Abnormalities in FAS/Partial FAS
Learning difficulties Deficits in school performance Poor impulse
control Problems in social perception Deficits in higher level
receptive and expressive language Poor capacity for abstraction
Specific deficits in mathematical skills Problems in memory,
attention or judgement
Slide 70
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
Slide 71
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
Slide 72
Lets 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 dont respond well to the antipsychotics like Risperdal
(Risperidone) or Zyprexa (Olanzapine). 72
Slide 73
Thats all folks! I can be reached at: 602-771-8278
[email protected]