Fetal Alcohol Spectrum Disorders: Diagnosis,

Prevention and Intervention

Roger J. Zoorob, MD, MPH, FAAFPFrank S. Royal Sr. Professor and Chair

Department of Family & Community Medicine

Meharry Medical College

Professor and Director Family Medicine

Vanderbilt University – Nashville, TN

Objectives

1. Examine diagnostic criteria for FAS

2. Review diagnostic criteria of FASDs

3. Review FASDs prevention/alcohol screening.

4. Discuss intervention & treatment options

Barriers We Face as Providers

Prevention of Alcohol Use among Pregnant Women Lack of training Uncertain about how to intervene if problem is found Time constraints Personal discomfort

Diagnosis and Care of Children with FASDs Lack of training Uncertain about how to intervene if problem is found Fear of offending mother Belief that the harm is already done

Weisner C, Matzger H. Alcohol Clin Exp Res. 2003 Jul;27(7):1132-41; Nevin AC et al. BMC Fam Pract. 2002;3:2.

Zoorob R, Aliyu MH, Hayes C. Alcohol. 2010 Jun;44(4):379-85.

Criteria for DiagnosingFetal Alcohol Syndrome (FAS)

With or w/o confirmed fetal exposure to alcohol, diagnosis requires documentation of:

1.All three dysmorphic facial features (smooth philtrum, thin vermillion border, small palpebral fissures)

2.Prenatal or postnatal growth deficit in height or weight

3.CNS abnormality: structural, neurological, or functional

Bertrand J, Floyd RL, Weber MK. Guidelines for Identifying and Referring Persons with Fetal Alcohol syndrome. Morbidity and Mortality Weekly Review. October 28, 2005/54;1-10

Facial Abnormalities Of FAS

1. Smooth philtrum

2. Thin vermillion

3. Small palpebral fissures

Photo courtesy of Teresa Kellerman

Lip-Philtrum Guide

Developed by University of Washington FAS Diagnostic & Prevention Network

Guide 1 – Caucasians

Guide 2 – African AmericansBack side provides face &

height-weight tables from the FASD Diagnostic Guide (2004)

Order fromhttp://depts.washington.edu/fasdpn/htmls/order-forms.htm

http://fasdcenter.samhsa.gov/educationTraining/courses/CapCurriculum/competency2/facial2.cfm

Palpebral Fissure Measurement

www.fasdpn.org

Measuring the Palpebral Fissures

Astley, et al. Magnetic Resonance Imaging Outcomes From a Comprehensive Magnetic Resonance Study of Children With Fetal Alcohol Spectrum Disorders. Alcoholism: Clinical and Experimental Research, Oct 2009.

Photo courtesy of the University of Louisville Fetal Alcohol Spectrum Disorders (FASD) Clinic - Weisskopf Child Evaluation Center, and the FASD Southeast Regional Training Center at Meharry Medical College Department of Family and Community Medicine: FASDsoutheast.orgAny use of this photo requires written permission from the University of Louisville FASD Clinic - Weisskopf Child Evaluation Center and the proper acknowledgement as written in this caption. 

Photo courtesy of the University of Louisville Fetal Alcohol Spectrum Disorders (FASD) Clinic - Weisskopf Child Evaluation Center, and the FASD Southeast Regional Training Center at Meharry Medical College Department of Family and Community Medicine: FASDsoutheast.org Any use of this photo requires written permission from the University of Louisville FASD Clinic - Weisskopf Child Evaluation Center and the proper

acknowledgement as written in this caption. 

#2 Growth Deficits in FAS Timing

– Prenatal or Postnatal– At any one point

Degree– ≤ 10th percentile for age and sex

adjusted for gestational age Height or Weight (or Head

Circumference)

UCLA RTC

Growth Deficiency (weight and/or height) ≤10% at any one point pre- or postnatal

(adjusted for age, sex, gestational age, race/ethnicity)

#3 CNS Abnormalities of FAS

Documentation of any of the following Structural Abnormality

Head circumference ≤ 10%’ (adjusted for age, sex) Clinically meaningful brain abnormalities observed

through imaging (reduction in size or change in shape of corpus callosum, cerebellum, or basal ganglia)

Bertrand J, Floyd RL, Weber MK. Guidelines for Identifying and Referring Persons with Fetal Alcohol syndrome. Morbidity and Mortality Weekly Review. October 28, 2005/54;1-10

#3 CNS Abnormalities of FAS Neurologic Abnormality

– Motor problems or seizure NOT from a postnatal insult or fever – Other soft neurologic signs outside normal limits

Functional Abnormality– Global cognitive or intellectual deficits (IQ <3rd percentile)– Substantial developmental delay in younger children – Functional deficits (<16th percentile) in at least 3 domains:

Cognitive or developmental deficits Executive functioning

Abstract concepts Problem solving

Motor functioning Attention problems/hyperactivity

Social skills Other (sensory, memory, language)

Bertrand J, Floyd RL, Weber MK. MMWR. October 28, 2005/54;1-10

Incidence of FAS

Comparable with or higher than rates for other common developmental disabilities (Down’s syndrome, spina bifida)

0.2 to 1.5 cases of FAS per 1,000 live births in the US

Approximately 4 million infants are born in the US per year

An estimated 1,000--6,000 are born with Fetal Alcohol Syndrome

CDC. MMWR Morb Mortal Wkly Rep 2002;51:433-435.

What are FASDs?

“Fetal Alcohol Spectrum Disorder” is NOT a diagnostic category, but rather an umbrella term describing a range of effects that can occur in a person whose mother drank alcohol during pregnancy

Bertrand J, Floyd RL, Weber MK. MMWR. October 28, 2005 / 54;1-10.

From FAS Diagnostic Criteria to Life with an FASD….

IQ averages 60, range 20-110 Poor Judgment Problems with

– Behavior– Motor Skills– Social Interactions

Excessive body contact

Impulsiveness

Intrusiveness

Lack of stranger anxiety

www.cdc.gov/ncbddd/fasd/videos/Iyal/long/Iyal_long.html

Beyond Early Childhood

Difficulties Socializing– Maintaining Friendships– Depression and Anxiety – Inappropriate Sexuality

…. Even Beyond Early Childhood

Disrupted Schooling– 43% of teens with FASDs are at high risk of

having school interrupted by suspension, expulsion, or from dropping out

Conduct Problems– Antisocial Behaviors– Inability to follow rules, lying, and stealing

GOALIndependent Living

Socialization Issues

Excessive body contact(Do not understand personal space)

Impulsiveness

Intrusiveness(Miss social cues for making/keeping

friends)

Lack of stranger anxiety(Easily victimized/sexually abused)

Kindergarten – Sixth Grade

Easily influenced by others Memory loss and retrieval problems. Needs things

repeated multiple times and still may not retain information.

Lying, stealing, or disobedient Problems separating fantasy from reality, having a

different perception of reality Temper tantrums Delayed physical, academic, and/or social development Silence, retreating from situations Inappropriate social behavior

Middle School/Junior High

Self-centered (act younger than stated age) Criminal activity Poor reasoning skills Cognitive problems from previous section do

not improve (memory, recall, reality, etc.) Poor motivation, low self-esteem, depression Academically tops out in one or more subjects Sexually active, drug or alcohol use Lacks time management skills, no concept of

time

Actual Age: 18

Expressive Language ----------------------------------- 20

Comprehension ------- 6

Money, time concepts ------- 8

Emotional maturity ---- 6

Physical maturity ---------------------------------- 18

Reading Ability ------------------------------- 16

Social Skills ---------------- 7

Living Skills --------------------- 11

Secondary Disabilities

Mental health problems-more than 90% Alcohol and other drug problems-35% of

adolescents and adults Disrupted school experiences->60% Juvenile justice 60% Juvenile confinement 40%

Streissguth, A. (1997). Fetal Alcohol Syndrome: A Guide for Families and Communities. Baltimore: Brookes Publishing. ISBN 1-55766-283-5

Co-occuring conditions in FASD

Attention-Deficit/Hyperactivity Disorder (ADHD)Oppositional Defiant Disorder (ODD)Conduct Disorder (CD)Reactive Attachment Disorder (RAD)Sleep DisordersSchizophreniaDepressionBi-polar disorderSubstance use disordersPost-Traumatic Stress Disorder (PTSD)

Protective Factors

Living in a stable and nurturing home for over 72% of life Being diagnosed with FAS before age six Never having experienced violence Remaining in each living situation for at least 2.8 years Experiencing a "good quality home" (meeting 10 or more defined

qualities) from age 8 to 12 years old Having been found eligible for developmental disability (DD)

services Having basic needs met for at least 13% of life Having a diagnosis of FAS (rather than another FASD condition)

Streissguth, A. (1997). Fetal Alcohol Syndrome: A Guide for Families and Communities. Baltimore: Brookes Publishing. ISBN 1-55766-283-5.

Prevention is first but for those cases that

were not prevented

FASDs Interventions and Treatments

Intervention Strategies1. Appropriate developmental services

2. Appropriate educational services (8 Magic Keys, Socio-cognitive habilitation/math interactive learning experience)

3. Neurobehavioral reframing/paradigm shift/parent coaching

4. Advocacy in multiple settings, specifically SCHOOL and WORKPLACE

5. Emphasizing strengths

6. Treatment of co-occurring conditions (including medication management)

7. Social skills training

Multidisciplinary Approach is Critical

Medical Treatment Mental Health Treatment

– Pharmacotherapy– Behavioral Therapies and Interventions

Skilled Nursing Services Physical, Occupational, and Speech Therapy Educational Interventions

– Early Intervention Services– Exceptional Ed– Teacher In-Service Training

Green JH. Fetal Alcohol Spectrum Disorders: Understanding the Effects off Prenatal Alcohol Exposure and Supporting Students. Journal of School Health. March 2007;77:103-108.

Multidisciplinary Approach is Critical

Caregiver Support Parent Training Case Management Art and Music

Therapy Service Animals

…. and more….

www.cdc.gov/ncbddd/fasd/videos/Iyal/long/Iyal_long.html

Intervening with Youth and Young Adults with FASDs

Purpose: CDC-supported innovative research to identify and evaluate interventions 16-25 year olds with FASDs – Randomized control design (at least 50 per group)– Comprehensive medical, psychological, &

environmental assessment– Comprehensive referrals and targeted intervention– Caregiver education/support

Funded: – UCLA

Project Step Up: decrease alcohol use– Saint Louis University

Partners for Success: family therapy, life coaching

Stomach

Brain

Liver

Kidneys

Fetus

Muscles

Nerves

Placenta

Brain

Heart

Organs

                           

  

Breast

No known safe amount of alcohol to drink while pregnant

Major Effects of Ethanol by Trimester of Pregnancy

The most prudent advice you can give to all women is to stop drinking before conception and to maintain abstinence through-out

pregnancy and during breast feeding. (UCLA RTC)

In 2008, about 7.2% of pregnant women used alcohol

1 of 20 pregnant women drank excessively before finding out they

were pregnant.

Centers for Disease Control and Prevention. Behavioral Risk Factor Surveillance System prevalence data. Atlanta, GA: Centers for Disease Control and Prevention. Available at www.cdc.gov/brfss.

Floyd RL, Decoufle P, Hungerford DW. Alcohol use prior to pregnancy recognition. Am J Prev Med 1999;17(2):101–107

SAMHSA 2010 National Survey on Drug use and Health

57% women of childbearing age (15-44) currently drink

From 2009-2010, an average of 11% of pregnant women reported current alcohol use, 4% reported binge drinking and 1% heavy drinking

Substance Abuse and Mental Health Services Administration, Results from the 2010 National Survey on Drug Use and Health: Summary of National Findings, NSDUH Series H-41, HHS Publication No. (SMA) 11-4658. Rockville, MD: Substance Abuse and Mental Health Services Administration, 2011.

Alcohol Consumption Rates for the Southeast Region

39% males, 36% females reported any drinking in past 30 days

28% males reported binge drinking (5 or more drinks/occasion) and 25% of female reported binge drinking (4 or more drinks/occasion)

Behavioral Risk Factor Surveillance System, 2010

Alcohol Consumption Rates for the Southeast Region

Among women of childbearing age, 42% consumed any alcohol and 26% reported binge drinking in the past 30 days

Among pregnant women, 6% reported any alcohol use and 24% reported binge drinking in past 30 days

State-Specific Weighted Prevalence Estimates of Alcohol Use Among Women 18–44 Years of Age, Behavioral Risk Factor Surveillance System, 2010

Alcohol Assessment and Intervention in Primary Care

Ask, Assess, Advise and Assist

Alcohol Assessment: Know what a Standard Drink is:

At-Risk Drinking

Per Week Per Occasion

Men > 14 drinks > 4 drinks

Women > 7 drinks > 3 drinks

Seniors > 7 drinks > 1 drink

Alcohol Assessment: Frequency and Quantity

First ask: Do you drink alcohol, including beer, wine or distilled spirits?

On average, how many days per week do you drink alcohol?

On a typical day when you drink, how many drinks do you have?

What’s the maximum number of drinks you had on a given occasion in the last month?

TWEAK Alcohol Assessment

Developed originally to screen for at-risk drinking during pregnancy

Five-item scale Shown effective in pregnant women

“TWEAK” T-Tolerance: "How many drinks does it take you

to feel the first effects of the alcohol?" W-Worry: "Have close friends or relatives

Worried or complained about your drinking in the past year?"

E-Eye-openers: "Do you sometimes take a drink in the morning when you first get up?"

A-Amnesia (blackouts); "Has a friend or family member ever told you about things you said or did while you were drinking that you could not remember?"

K(C)-Cut Down: "Do you sometimes feel the need to Cut Down on your drinking?"

Tweak Scoring Tolerance: 3 or more drinks to feel effect = 2

points Worry: Yes = 2 points Eye Opener: Yes = 1 point Amnesia: Yes = 1 point Cut Down: Yes = 1 point

A score of >0 indicates at-risk during pregnancyFor others, a score of 2 indicates likelihood of at-risk drinking; A score of 3-4 or more indicates problem drinking or alcoholism

Chang G. Alcohol Screening Instruments for Pregnant Women. Alcohol Research and Health. 2001;25(3):204-209 (at NOFAS website)

The CRAFFT

Brief Intervention Treatment

Found to be effective with women problem drinkers in primary-care clinics

5-10 minute counseling session has been found to reduce alcohol use in women by 20-30%

… is not difficult

Wallace P, Cutler S, Hains A. Randomized controlled trial of general practitioner in patients with excessive alcohol consumption. British Medical Journal. 1988;297(6649):663-668.Fleming MF, Barry KL, Manwell LB, Johnson K, London R. Brief physician advice for problem alcohol drinkers: A randomized controlled trial in community-based primary-care practices. JAMA. 1997;277(13):1039-1045.

Brief Intervention: Ask and Assess Risk Level

1. Raise the subject: Alcohol Assessment Test“I like to ask all my patients about their drinking patterns”

2. Does the patient have alcohol-related problems? (Medical, behavioral, social, familial)

3. Provide feedback about alcohol risk level: Relate health concerns / pregnancy risks to alcohol use

“I am very concerned about how your drinking may affect your health”

“There is no known safe limit for drinking during pregnancy. You need to stop drinking completely b/c when you drink, your baby drinks.”

Brief Intervention: Advise and Assist

4. Engage the patient in the process: Assess, enhance motivation and patient responsibility“How do you feel about your drinking?”

5. For alcohol-risk, establish drinking goals: Advise and negotiate cut down “Are you ready to set a drinking goal? What do you think will work best for you?” (give brochure materials)For alcohol dependence, advise abstinence and refer to specialized treatment.

6. Follow up: review progress, commend effort, reinforce positive change, reassess motivation

National Institute on Alcohol Abuse and Alcoholism and Office of Researchon Minority Health, Identification of At-Risk Drinking and Intervention with

Women of Childbearing Age. NIH Publication No. 99-4368 (Printed 1999)

Information and Treatment Resources

Southeast Fetal Alcohol Spectrum Disorders Regional Training Center

Meharry Medical College Dept. of Family Medicine – Nashville, TNTel: (615) 327-5525

University of Louisville Weisskopf Child Evaluation Center - Louisville, KY

Tel: (502) 852-3020

http://www.fasdsoutheast.org

Information and Treatment Resources

The Arc of the United States– The Arc of South Carolina - Tel (803) 748-5020

www.arcsc.org

The Arc of Coastal Carolina - Tel (803) 238-3040

The Arc of Pickens – Tel (864) 859-5416

NOFAS (National Organization on FAS)Phone: 202-785-4585 Web: www.nofas.org

Local Alcohol and Drug Treatment Resources: http://findtreatment.samhsa.gov/facilitylocatordoc.htm

Tools from www.cdc.gov/fasd

Elizabeth P. Dang, MPH, Behavioral Scientist, FAS Prevention Team, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention

FASD Prevention Tool Kit

Developed by ACOG and CDC Contains

– Brief guide– Laminated screening

instrument– Resource information– Patient handouts

CME credits available

Information and Treatment Resources

National Organization on FAS (NOFAS)(202) 785-4585 www.nofas.org

Local Alcohol and Drug Treatment Resources http://findtreatment.samhsa.gov/facilitylocatordoc.htm

CDC FASD Home Page www.cdc.gov/fasd

Southeast Fetal Alcohol Spectrum Disorder Regional Training Center (FASD RTC) in the Meharry Medical College Department of Family & Community Medicine615) 327-5525www.familymedicine.mmc.edu www.fasdsoutheast.org

SC State Resources

Community Resources and Family Support Groups – Donna Martin, Parent – medonna@bellsnouth.net– Forming a parent support group in South Carolina.

South Carolina Department of Disabilities and Special Needs– Phone: 803-898-9600 – Contact: Donna Windham, Director– www.state.sc.us/ddsn/ – Community Education Program. Prevention information, and

resources for developmental disabled persons and their families.

SC State Resources

Diagnosis of FAS Children's Hospital - Division of Developmental and

Behavioral Pediatrics– Phone: (864) 454-5115 – Contact: Desmond Kelly, M.D. – dkelly@ghs.org

Greenwood Genetics Center– Phone: 864-941-8100 – Contact: Roger Stevenson, M.D.– res@ggc.org www.ggc.org

SC State Resources

Diagnosis of FAS University of South Carolina Medical School Developmental

Pediatrics– Phone: 803-935-5604  Fax: 803-935-5380  – Contact: Dr. Wuri– http://pediatrics.med.sc.edu/divisions/developmental_pediatrics.ht

m

Medical University of South Carolina - Department of Pediatric Neurology

– Phone: 843-792-3307  Fax: 843-792-3220  – Contact: Kenton Holden, M.D.– holdenk@musc.edu– www.musc.edu

SC State Resources

Prevention Programs, including Treatment for Women – South Carolina Dept. of Alcohol and Other Drugs of Abuse

Services (DAODAS) Phone (803) 896-4198 Contact: Hanna Bonsu, Lead Coordinator

– South Carolina FAS Prevention Network Phone: 803-737-9138  Contact: Frankie Long, Coordinator

– The Prevention Center (SCADA) Phone: 803-778-2835  Contact: Glenn Peagler, M.Ed., CSPP, Director of Prevention, Patricia A. Colclough,

MS, CPP, Women's Issues Coordinator

SC State Resources

Protection and Advocacy for People with Disabilities, Inc.– Phone: 803-782-0639 – www.protectionandadvocacy-sc.org

Treatment Services for Affected Individuals –  Growing Home

Phone: 803-791-5513  www.growinghome.org

–  Medical University of South Carolina - Institute of Psychiatry Phone: 843-792-9888 

FASDs are 100% preventable there is no known safe amount of alcohol

to drink while pregnant  there is no safe time during pregnancy to

drink there is no safe type of alcohol

“Practice Makes Perfect”

for providers regarding screening and prevention

“Keep It Simple”

Vice Adm. Richard Carmona,

U.S. Surgeon General 2002-2006

“We must prevent all injury and illness that is preventable in society, and alcohol-related birth defects are completely preventable…”

“When a pregnant woman drinks alcohol, so does her baby. Therefore, it's in the child's best interest for a pregnant woman to simply not drink alcohol."

In Summary

Asses alcohol intake in pregnant and women in the child bearing age

Use brief intervention techniques to help pregnant women who consume alcohol

FASDs are 100% preventable—if a woman does not drink alcohol while she is pregnant

Early Recognition and multidisciplinary intervention of FASDs will decrease the impact