Disorder and Fetal Alcohol Syndrome Bob Klaehn MD Medical Director AZDESDDD Faculty Maricopa Integrated Health System Child Psychiatry Fellowship Board Member ITMHCA In most cases gt50 parents are worried ID: 920626
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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
Slide2In most cases (>50%) parents are worried
in the child’s first year of lifeBy age 2, 90% of parents are concernedCommon presenting problems include: language delay, worries that the child may be deaf and concerns about social devianceUnfortunately, delays in diagnosis are still common. Autism rarely develops after age three Volkmar and Klin, 2003
Onset of Autism
Slide3Barriers 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 ProgramsVery 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).
Slide4Designed 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 AutismIn Arizona: The Arizona Chapter of the American Academy of Pediatrics has distributed the M-CHAT to all pediatrician’s officesIn order to get an infant or toddler into DDD services, you must determine only that a child is “at risk” for AutismModified Checklist for Autism in Toddlers (M-CHAT)
Slide5Does 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
Slide6Does 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)
Slide7DSM-IV vs. DSM-5DSM-IV
DSM-5
Autistic DisorderRett’s DisorderChildhood Disintegrative DisorderAsperger’s DisorderPervasive Developmental Disorder, Not Otherwise Specified (PDD, NOS)Autism Spectrum Disorder
Slide8Why 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 usedRevision of Statute requires approval by the Legislature
Slide9A 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 CommunicationAt least one criterion from the category of Restricted or Repetitive and Stereotyped Patterns of Behavior, Interests and ActivitiesDSM-IV Diagnostic Criteria for Autism
Slide101a) 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 interactionExamples: Trouble looking others in the eyeLittle use of gestures while speakingFew or unusual facial expressionsTrouble 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
Slide111b) Failure to develop peer relationships appropriate
to developmental level
Examples: Few or no friendsRelationships only with those much older or younger than the child or with family membersRelationships base primarily on special interestsTrouble interacting in groups and following cooperative rules of games Diagnostic Criteria for Autism:Impairment in Social Interaction
Slide121c) 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 peopleDoes not call other’s attention to activities, interests or accomplishmentsLittle interest in or reaction to praiseDiagnostic Criteria for Autism:
Impairment in Social Interaction
Slide131d) Lack of social or emotional
reciprocity
Examples: Does not respond to others, appears deafNot aware of others; oblivious to their existenceDoes not notice when others are hurt or upsetDoes not offer comfortDiagnostic Criteria for Autism:Impairment in Social Interaction
Slide142a) 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 2No simple phrases by age 3After speech develops, immature grammar or repeated errorsDiagnostic Criteria for Autism: Impairment in Communication
Slide152b) Trouble holding a conversation
Examples:
Trouble knowing how to start, keep going and/or end a conversationLittle “back and forth”May talk on and on in a monologueFailure to respond to the comments of othersDifficulty talking about topics not of special interest Diagnostic Criteria for Autism: Impairment in Communication
Slide162c) 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 contextUsing words or phrases that the child has made up or that have special meaning only to him/herOverly formal, pedantic style of speaking (sounds like a “a little professor”).Diagnostic Criteria for Autism: Impairment in Communication
Slide172d) 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 themWhen young, little interest in social games like “Peek-a-boo.”Diagnostic Criteria for Autism: Impairment in Communication
Slide183a) Encompassing preoccupation with one or more
stereotyped and restricted patterns of interest
that is abnormal either in intensity or focusExamples: Very strong focus on particular topics to the exclusion of other topicsDifficulty “letting go” of special topicsInterest in unusual topics (light bulbs, astrophysics, etc.)Excellent memory for details of special interest
Diagnostic Criteria for Autism:
Restricted Patterns of Behavior
Slide193b) Apparently inflexible adherence to specific, non-
functional routines or rituals
Examples: Wants to perform certain activities in an exact orderEasily upset by minor changes in route (such as taking a different way home from school)Need for advance warning of any changesBecomes highly anxious and upset if routines or rituals are not followedDiagnostic Criteria for Autism:Restricted Patterns of Behavior
Slide203c) Stereotyped and repetitive motor mannerisms
(such as hand or finger flapping or twisting, or
complex whole body movements)Examples: Flaps hands when excited or upsetFlicks fingers in front of eyesOdd hand postures or hand movementsSpins or rocks for long periods of timeWalks and/or runs on tiptoeRestricted, Stereotyped and
Repetitive Patterns of Behavior
Slide213d) 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
Slide22Must 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
Slide232) 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
Slide243) Non-verbal communication problems -
This can include:
Abnormal eye contactAbnormal facial expressionsAbnormal tone of voice Abnormal use of gestures or posturesAn inability to understand these non-verbal signals from other people.DSM-5 Autism Spectrum Disorder (2)
Slide25In 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 movementsIntense and restrictive interestsDifficulty integrating sensory information or strong seeking or avoiding behavior of sensory stimuliDSM-V Autism Spectrum Disorder (3)
Slide26Why 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 AnalysisDevelopmental Individual-difference Relationship-based model (DIR) – FloortimeDenver ModelTEACHH Model
Slide27Barriers to the diagnosis of Posttraumatic Stress Disorder
A belief in “Man’s better nature”
A lack of diagnostic sophistication in public mental health (too many “NOS” diagnoses!)
Slide28“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:
Slide29Let’s review PTSD criteria from 3 Diagnostic Classifications
Diagnostic Classification: Zero-to-Three
RevisedDSM-IVDiagnostic Manual: Intellectual Disability, (DM:ID) which adapts DSM-IV criteria for persons with Mild to Moderate ID and Severe to Profound ID
Slide30Diagnostic 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 forPosttraumatic Stress Disorder
Slide31Posttraumatic Stress Disorder
DSM-IV
DM-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.
Slide32Posttraumatic Stress Disorder
DSM-IV
DM:ID(2) The person’s 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.
Slide33Posttraumatic Stress DisorderDSM-IV
DM:ID
B. The traumatic event is persistently re-experienced in one (or more) of the following ways: 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 expressedB. No Adaptation. 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.
Slide34Posttraumatic Stress DisorderDSM-IV
DM:ID
(2) Recurrent distressing dreams of the eventNote: In children, there may be frightening dreams without recognizable contentMild to Moderate ID: No Adaptation, though frightening dreams without recognizable content are more likely in more impaired individualsSevere to Profound ID: Frightening Dreams without recognizable content appear to be more common in individuals with a lower developmental age.
Slide35Posttraumatic Stress DisorderDSM-IV
DM-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.
Slide36Posttraumatic Stress DisorderDSM-IV
DM: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
No Adaptation
Slide37Posttraumatic Stress Disorder
DSM-IV
DM:IDC. 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
Slide38Posttraumatic Stress Disorder
DSM-IV
DM-ID(1) Efforts to avoid thoughts, feelings or conversation associated with the traumaMild to Moderate ID: No adaptationSevere to profound ID: No Adaptation, but it may be difficult to
assess in those with
severe verbal
limitations.
Slide39Posttraumatic Stress Disorder
DSM-IV
DM: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
Slide40Posttraumatic Stress DisorderDSM-IV
DM:ID
(4) Markedly diminished interest or participation in significant activities(5) Feeling of detachment or estrangement from othersNo Adaptation. May bereported by caregivers as non-complianceNo Adaptation. Caregivers may report that the individual isolates him or herself
Slide41Posttraumatic Stress Disorder
DSM-IV
DM: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 AdaptationMild 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
Slide42Posttraumatic Stress DisorderDSM-IV
DM: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 asleepNo adaptation
No adaptation
Slide43Posttraumatic Stress DisorderDSM-IV
DM:ID
(2) Irritability or outbursts of anger(3) Difficulty concentrating(4) Hypervigilance(5) Exaggerated startle responseNo adaptationNo adaptationNo adaptation
No adaptation
Slide44Posttraumatic Stress DisorderDSM:IV
DM:ID
E. Duration of symptoms is more than a monthF. The disturbance causes clinically significant distress or impairment in social, occupational or other important areas of functioningNo adaptation
No Adaptation
Slide45Fear of being separated from the mother or primary caretaker and excessive clingingCrying, whimpering, screaming, trembling and frightened facial expression.
Immobility or aimless motion
Regressive behaviors, such as thumb sucking, bedwetting and fear of darknessDevelopmental Responses to Trauma – under 5 years old
Slide46Disabilities or intellectual disability in childrenSocial isolation of familiesLack of caregiver understanding of the child’s needs and child development
Poverty
History of domestic violenceRisk Factors for Child Maltreatment (National Center for Injury Prevention and Control, 2005)
Slide47Substance Abuse in the familyCaregiver stress and distress (including parental mental health conditions) Young, single, non-biological parentsNegative 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)
Slide48Supportive family environment/stable family relationshipsNurturing caregiver skillsConsistent household rules and monitoring of the child
Adequate housing
Parental employmentAccess to healthcare and social servicesCaring adults outside the family who serve as role models or mentorsCommunities that support caregivers Factors protecting against Child Maltreatment(National Center for Injury Prevention and Control, 2005)
Slide49Up 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)
Slide5025% of infants ages 1-6 months are hit50% of infants ages 6-12 months are hitHistory 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 hurt60% reported being raped or in danger of being raped76% witnessing someone being severely injured or killedPrevalence of Trauma(National Technical Assistance Center for State Mental Health Planning (NTAC), 2004)
Slide51Likely to experience both multiple symptoms during childhood and alterations in neurobiologyMore likely to present with symptoms of depression and anxietyMore 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
Slide52Children 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
Slide53Child with moodiness, temper tantrums and low frustration tolerance may be diagnosed with Bipolar DisorderChild with dissociative features, including self-injurious and aggressive behaviors and substance abuse may be diagnosed with Borderline Personality Disorder
Potential Misdiagnoses
Slide54National 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
Slide55Studied 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)
Slide56Study 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)
Slide57Relative Risk by DisabilityChildren 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 neglectedThree times more likely to be sexually abusedSullivan & Knutson (2000)
Slide58Relative Risk by DisabilityChildren 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 abusedTwice as likely to be emotionally abused or neglected Sullivan & Knutson (2000)
Slide59Turecki 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?
Slide60Jokinen 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
Slide61Barriers 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 pregnancyAlcohol is frequently used at the same time as various drugs
Slide62Prevalence of FAS/FASDIn 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)
Slide63Greek and Roman writings warned bridal couples not to drink wine to avoid having defective babiesTerm “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)
Slide64Short palpebral fissure (opening between eyelids)
Short and broad nasal bridge
Your philtrum is the two raised ridges under your noseFAS: Facial Features
Slide65Institute of Medicine diagnostic criteria for FAS
A. Confirmed maternal alcohol exposure
B. Evidence a characteristic pattern of facial anomaliesC. Evidence of growth retardation, as in one of the following: Low birth weight for gestational ageDecelerating weight over time not due to nutritionDisproportional low weight-to-height ratio
Slide66Institute of Medicine diagnostic criteria for FASD. Evidence of Central Nervous System
neurodevelopmental abnormalities, as in one of the following: Decreased cranial size at birthStructural brain abnormalities (microcephaly, partial or complete agenesis of the corpus callosum or cerebellar hypoplasiaNeurologic signs: impaired fine motor skills, neurosensory hearing loss, poor tandem gait or poor eye-hand coordination
Slide67Institute of Medicine diagnostic criteria for Partial FAS
A. Confirmed maternal alcohol exposure
B. Evidence of some components of the pattern of characteristic facial anomaliesEither C or D or EC and D as in “Full FAS”
Slide68Institute 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.
Slide69Behavioral or Cognitive Abnormalities in FAS/Partial FAS
Learning difficulties
Deficits in school performancePoor impulse controlProblems in social perceptionDeficits in higher level receptive and expressive languagePoor capacity for abstractionSpecific deficits in mathematical skillsProblems in memory, attention or judgement
Slide70Definition for Confirmationof Maternal Alcohol Exposure
A pattern of excessive intake characterized by substantial, regular intake or heavy episodic drinking, as evidenced by:
Frequent periods of IntoxicationDevelopmental of tolerance or withdrawalSocial problems related to drinkingLegal problems related to drinkingEngaging in physically hazardous behavior while drinkingAlcohol-related medical problems such as liver disease
Slide71Fetal 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)IrritabilityIn boys, communication delays
Slide72Let’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).72
Slide73That’s all folks!
I can be reached at:
602-771-8278rklaehn@azdes.gov