Julie A. Kable, Ph.D. Department of Psychiatry and Behavioral Sciences

Emory University School of Medicine

NOFAS Presentation February 19, 2014

Disclosure Information �  I have no relevant financial

relationships with the manufacturer(s) of any commercial product(s) and/or provider of commercial services discussed in this CME activity. I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation.

Learning Objectives

� To understand what ND-PAE is and how to diagnosis this disorder

� To understand the limits of the diagnostic criteria

� To understand the need for further research in this area

Fetal Alcohol Spectrum Disorders

FAS

pFAS

ND-PAE

ARND

Fetal alcohol effects ARBD

IOM Terminology v FAS is a birth defect caused by Prenatal Exposure

to Alcohol, a teratogenic substance. v pFAS is a diagnostic label given to individuals who meet 2

of the 3 criteria needed for full FAS (Partial Fetal Alcohol Syndrome)

v  Alcohol Related Neurodevelopmental Disorder (ARND) is

used when there are no physical characteristics of FAS, but damage to the Central Nervous System is suspected.

v Alcohol Related Birth Defects is used to describe physical

effects in the absence of CNS involvement

How is FAS and pFAS Diagnosed? �  Alcohol Exposure �  Face �  Growth �  Brain

�  Developmental Disabilities

�  Learning Problems �  Behavior Problems

760.71 FAS pFAS ARND Exposure only

ICCFASD Diagnostic Issues Work Group DSM-5 Revision Subcommittee

�  Julie Kable (Emory University) �  Mary O'Connor (U. California at Los Angeles) �  Heather Carmichael Olson (U. of Washington) �  Sarah Mattson (San Diego State University) �  Blair Paley (U. California at Los Angeles) �  Edward Riley (San Diego State University) �  Sally Anderson (NIAAA, NIH) �  Kenneth R. Warren (NIAAA,NIH)

Why is a DSM-5 Diagnosis needed for individuals with an FASD? � Currently there is no specific mental

health code that adequately documents the cognitive and mental health impact of PAE v  Intellectual Deficiency v  Cognitive impairment, NOS v  Unspecified emotional and behavioral

disturbance v  ADD-ADHD

Why is a DSM-5 Diagnosis needed for individuals with an FASD? � Currently there is no specific mental

health code that adequately documents the cognitive and mental health impact of PAE

�  The existing diagnostic codes do not adequately capture their mental health needs (760.71)

Why is a DSM-5 Diagnosis needed for individuals with an FASD? �  Currently there is no specific mental health

code that adequately documents the cognitive and mental health impact of PAE

�  The existing diagnostic codes do not adequately capture their mental health needs

�  Individuals with FASD may not respond to treatment regimens developed using the existing codes similarly, which may lead to inappropriate treatments

Why is a DSM-5 Diagnosis needed for individuals with an FASD? �  Currently there is no specific mental health

code that adequately documents the cognitive and mental health impact of PAE

�  The existing diagnostic codes do not adequately capture their mental health needs

�  Individuals with FASD may not respond to treatment regimens developed using the existing codes similarly, which may lead to inappropriate treatments

�  When seeking mental health care (assessments or interventions), providers and families often struggle with obtaining appropriate reimbursement for habilitative care

Historical Process �  FAS Community Energized APA �  Proposed criteria presented to the DSM-5

Neurodevelopmental Disorders Group but rejected �  Presented to the Substance-Related Disorders Group

and was supported �  DSM-5 Scientific Review Committee reviewed and

commented �  Clinical and Public Health Committee reviewed �  Proposed for Section III (Disorders in need of further

study) of the DSM-5 and was posted for public comment until 6/15/2012

�  White paper-submitting for publication in an abbreviated format

DSM-5 Released May 2013

Pages 798-801

315.8 Other Specified Neurodevelopmental Disorder:ND-PAE

Neurodevelopmental Disorder Associated with Prenatal Alcohol Exposure

Neurocognitive Impairment

• Global IQ (IQ < 70) •  Executive function impairment •  Learning impairment • Memory impairment •  Visual spatial reasoning impairment

Impairment in Self-

regulation

• Impairment in mood or behavioral regulation

• Attention deficits • Impairment in impulse control

Deficits in Adaptive

Functioning Skills

• Communication deficit • Social impairment • Daily living skills impairment • Motor impairment

ND-PAE

History of More than Minimal Levels of PAE

� History of More than Minimal Levels of

PAE

§  Amount not specified in actual criteria but guidelines are in the supporting text

>13 drinks per month or more than 2 on one occasion §  If an individual meets criteria for full FAS then ND-PAE can

be diagnosed without documented exposure §  Documentation can be from maternal self-report, medical

and other records, or clinical observation

Neurocognitive Impairment

B. Neurocognitive impairment, as evidenced by 1 (or more) of the following: •  Global intellectual impairment (i.e., IQ of 70 or below, or a standard

score of 70 or below on a comprehensive developmental assessment). •  Impairment in executive functioning (e.g., poor planning and

organization; difficulty changing strategies or inflexibility; difficulty with behavioral inhibition).

•  Impairment in learning (e.g., lower academic achievement than expected for intellectual level; requires special education services; specific learning disability).

•  Impairment in memory (e.g., problems remembering information learned recently; repeatedly making the same mistakes; difficulty remembering long verbal instructions).

•  Impairment in visual spatial reasoning (e.g. disorganized or poorly planned drawings or constructions; problems differentiating left from right; problems aligning numbers in columns).

To Test or Not to Test?

� Why does the neurocognitive impairment criteria not include the physical impact on brain development? �  Small head circumference � Neuroimaging evidence

Impairment in Self-regulation

C. Impairment in self-regulation in 1 (or more) of the following: •  Impairment in mood or behavioral regulation (e.g., mood

lability; negative affect or irritability; frequent behavioral outbursts).

•  Attention deficit (e.g., difficulty encoding new information; difficulty shifting attention; difficulty sustaining mental effort).

•  Impairment in impulse control (e.g., difficulty waiting turn; difficulty complying with rules; confabulating; taking possessions of others).

Differentiating ND-PAE from other Developmental Disorders Disorder Dysfunction Differences Stimulus changes needed

Autism Easily over aroused

Downward shift in need for central stimulation or reduced ability to modulate or habituate stimulus input

Reduce sensory input

ADHD Under aroused Shift in level of central stimulation found to be optimal from inadequate neurotransmission of incoming stimulation

Respond to stimulant medications and increases in arousal

FAS Arousal dysfunction

Slower gating of incoming stimulation and reduced capacity to inhibit attending to distracting stimuli

Respond to simplification of sensory input (fewer distracters and slower presentation)

Cocaine Exposure

Heightened arousal responses

Over aroused by stimulation and difficulties returning to baseline levels. Also has difficulties with maintaining inhibitory control

Monitoring of arousal level so stimulus input can be modified when too high. Longer periods allowed for recovery of functioning

Deficits in Adaptive

Functioning Skills D. Deficits in adaptive functioning as manifested in 2 (or more) of the following, including at least 1 of (1) or (2):

•  Communication deficit (e.g., delayed acquisition of language; difficulty understanding spoken language; difficulty using language to express self so that the listener understands).

•  Social impairment (e.g., overly friendly with strangers; difficulty reading social cues; difficulty understanding social consequences; acting too young).

•  Impairment in daily living (delayed toileting, feeding, or bathing; problems following rules of personal safety; difficulty managing daily schedule).

•  Motor impairment (e.g., poor fine motor development; delayed attainment of gross motor milestones or ongoing deficits in gross motor function; problems in coordination and balance).

�  E. The onset of the disturbance (symptoms in Criteria B, C, and D) is before 18 years of age.

�  F. The disturbance causes clinically significant distress or impairment in social, occupational, or other important areas of functioning.

�  G. The disturbance is not better explained by the direct physiological effects associated with postnatal use of a substance (e.g., medication, alcohol or other drugs), a general medical condition (e.g., traumatic brain injury, delirium, dementia), other known teratogens (e.g., Fetal Hydantoin syndrome), genetic condition (e.g., Williams syndrome, Down syndrome, Cornelia de Lange syndrome), or environmental neglect and/or abuse.

Problems with ND-PAE

� Has to be documented history of prenatal alcohol exposure-leaving out an enormous number of affected individuals

Problems with ND-PAE

� Some individuals in the spectrum will not meet criteria for all three major symptom areas � Does an individual with cognitive impairment

and adaptive skills deficits not have ND-PAE?

Universe of prenatal alcohol’s impact on brain development

Total PAE Impact

ND-PAE but no

documented exposure?

ND-PAE?

ND-PAE?

Universe of prenatal alcohol’s impact on dysmorphia

Total PAE Impact

1/3 +/-other dysmorphia?

2/3 cardinal =/1 other dysmorphia?

3 cardinal Trio?

ND-PAE does not…

� Replace doing an 760.71 FAS or pFAS diagnosis

� These are medical diagnoses that incorporate the physical impact of prenatal alcohol exposure �  For diagnosis-760.71 and 315.8

ND-PAE does…

� Replace ARND as a clinical diagnosis but ARND was never really defined and never had a diagnostic code associated with it.

Case Example � Timmy

�  4 year-old internationally adopted child �  Parents want to R/O FAS and expressed

concerns about his poor speech and hyperactivity; poor sleep maintenance

� History of growth failure �  Significant levels of dysmorphia/3 cardinal � DAS-II GCA 73; Special Nonverbal

Composite of 79; Verbal 80; Nonverbal 67; Spatial 76

�  Bracken Basic Concept Scale, 3rd ed 68 �  Vineland Adaptive Behavior Scales ABC-75

Old vs. New Diagnoses �  760.71 FAS �  313.9 Unspecified emotional and

behavioral disturbance �  315.9 Unspecified delay in development

�  760.71 FAS �  315.8 Other Specified

Neurodevelopmental Disorder-ND-PAE/associated with prenatal alcohol exposure

What is still needed?

� Data to support the criteria delineated �  Frequency of the various symptoms in FASD

groups (PAE, FAS, pFAS, ARND) � Discriminant validity studies with other

clinical groups (ADHD, DD, ODD, CD, Bipolar Disorder)

� Public advocacy along the way

Clinical Challenges

� Asking about prenatal alcohol exposure � Accessing appropriate

neurodevelopmental evaluations � Accessing specialized clinics � Advocacy with school and social

systems in which the individual may be involved

�  Implementing the developmental follow-up, habilitative care plans, and life plans that are necessary