Fetal Alcohol SyndromeMedicine Across the Lifespan Week 3

Wednesday, January 11, 2012

Shaw

Scope of the Issue

o o o o Alcohol use is an entrenched practice in US More than half of women of childbearing age drink 12% of pregnant women report consuming alcohol Prenatal exposure to alcohol is harmful to the fetus, particularly to their developing brain

FAS Diagnostic Criteria (CDC criteria)

o Fetal alcohol syndrome is a clinical diagnosis Smooth philtrum: lip philtrum guide 4 or 5 Thin vermillion: lip philtrum guide 4 or 5 Small palpebral fissures: <10% percentile

o Documentation of all 3 facial abnormalities (subtle)

Documentation of growth deficits/abnormalities Prenatal or postnatal weight fo &/or height <10% percentile

Recognition of Fetal Alcohol Syndrome

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1968: Paul Lemione first described effects of prenatal alcohol exposure. 1973: Jones, Smith, Ulleland, & StreissguthPattern of Malformation in Offspring Alcoholic Mothers. 1973: Jones & Smith coined the term FAS. Fetal Alcohol Syndrome is now recognized as the leading known cause of mental retardation in the US, surpassing spina bifida & Downs syndrome.

Adjusted for age, gender, gestational age, race, & ethnicity If pt doesnt meet criteria for <10% weight %ile they are not FAS but if they have everything else they have FASD. Growth parameters show a primordial short stature with a relative and absolute microcephaly

o Documentation of CNS or neurobehavioral disorders TEST: You never even have to ask the mom if she drank any alcohol!

FAS Diagnostic Criteria: Facial Abnormalities

Effects of Alcohol on Fetus

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No known safe amount of alcohol in pregnancy No safe type of alcohol No safe time to drink during pregnancy Alcohol damages the developing central nervous system through multiple mechanisms

Prevalence of FASDs (common)

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Philtrum & Vermillion Demo

Prevalence of FAS: 0.2-1.5 per 1,000 live birth o Lips gently closed FASDs estimated at 9-10 per 1,000 live births o No smile Groups with higher rates of FAS/FASDs: o Examiners eyes Frankfort Horizontal Plane Disadvantaged groups o Match to ethnic photos American Indian/Alaska Native, African Amer Important landmarks on Palpebral Fissure Children in foster care (socioeconomic) o Inner canthus Youth in juvenile justice system o Outer canthus

Prevention of Alcohol-Exposed Pregnancies

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Palpebral fissure

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1) Universal: warning labels on alcoholic o Growth Curves: As they grow, they are below their growth beverages, public service announcements, mass curve. Difference between Males & Females media campaigns Males: Very SKINNY 2) Selective: screening women for alcohol use & Females: More likely to get OVERWEIGHT providing brief intervention 3) Indicated: alcohol treatment & measures to prevent pregnancy FAS Diagnostic Criteria: Structural Disorders

FAS Diagnostic Criteria: Growth Deficits

Structural Disorders Head circumference <10th percentile OFC= Occipital Frontal Circumferences Brain abnormalities observed via: imaging, (CT or MRI) seizures, impaired motor skills (expected with microcephaly)

Cute Appearing

Associated Features of FAS

1. 2. 3. 4. 5. 6. 7. Limb abnormalities Crease differences Cardiac Small genitalia Ocular Skeletal Auditory

Who Should We Screen? 1. All women of child-bearing age (15 yrs-50)

a. Women who drink prior to pregnancy more likely to drink during pregnancy b. 53% of non-pregnant women drink, 12% binge c. Women may not volunteer inf0 on alcohol intake d. of childbearing age women do not use BC e. Many women do not realize they are pregnant until after the 4th 6th week of gestation.

2. Pregnant women 3. Nursing mothers

Alcohol Consumption by Women FAS Diagnostic Criteria: Neurological Disorders

o o o o o Seizures not due to postnatal insult Impaired motor skills Sensorineural hearing loss Memory loss Poor eye-hand coordination

FAS Diagnostic Criteria: Functional Disorders:

o Below average scores on standardized instrument or clinical impression of functional deficit in one of the following domains: General cognitive deficits Attention Deficit/Hyperactivity Executive functions (ADHD symptoms) Mental health problems Motor functions Social skills (poor)

33% abstain & 39% are low risk; The rest are HIGH RISK It is much easier to screen everyone! Screening works best if done universally! 55% will say they consumed alcohol Why Screen Pregnant Women? o 12% of women continue to drink while pregnant, despite efforts to educate on its dangers. o Alcohol use during pregnancy, even low intake levels, has been associated w/ significant negative consequences, including FASD

FAS--Differential Diagnosis
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Cardiac disorders

Williams syndrome (ELN deletion) Velocardiofacial syndrome (del 22q11) Noonan syndrome (PTPN deletion) DeLange syndrome Dubowitz syndrome Maternal PKU embryopathy Maternal Toluene embryopathy (toxin exposure)

Are Women Being Screened? o Despite potential risks & established clinical guidelines, some o Physicians are less likely to detect alcohol problems in
patients that they do not expect to have alcohol problems. individuals are not screened for problem drinking.

Risk Factors: Who is Likely to Drink?

1. 2. 3. 4. 5. 6. 7.
8.

FAS: The Road Ahead

o o o FAS is only the tip of the iceberg Prompt diagnosis leads to better prognosis Treatment begins with prevention

Alcohol dependent or abused alcohol while pregnant b4 Previous biologic child with FASD Partner/family member heavy drinker Associated depression Other drug or tobacco use Low socioeconomic status Unmarried

African American & American-Indian/Alaska-Native ethnicity

9. Younger maternal age

Why Screen?
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Alcohol use during pregnancy is one of the leading preventable causes of birth defects & childhood disabilities in the US Even low levels of alcohol during pregnancy can have negative developmental consequences. Recommended by US Preventive Services Task Force & CDC

What Tools are Available for Screening

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National Institute on Alcohol Abuse & Alcoholism Quantity & Frequency Screen Standardized screening instruments No one gold standard exists Most are less accurate when used in women Laboratory evaluation: not very sensitive

What is a Drink?
o Before screening, women should be taught what constitutes a typical drink. One 12 ounce bottle of beer One 5 ounce glass of wine 1.5 ounces of distilled spirits

Brief Intervention
o In the office setting: For women with at risk or problem drinking patterns Non-pregnant woman w/ intake > low risk drinking Sexually active, non-pregnant woman NOT using effective contraception Trying to conceive or pregnant drinking at any level o Referral to Alcohol Treatment Specialist: For women with dependent drinking patterns Performing a brief intervention prior to referral has been shown to increase the patients motivation to enter counseling, even if the brief intervention fails. o agreements o Review goals or set new ones

A standard drink is defined as:

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NIAAA Quantity/Frequency Screen

o o o o Do you drink alcohol? On average, how many days a week do you drink? On a day when you drink, how many do you have? What is the max number of drinks you consumed on any given occasion in the past month? BING E Q

Recommended Alcohol Screening Click here to enter Summary Instruments

o Best instruments should be: Brief, EASY to Administer & SCORE! Reliable/accurate in target population To be effective, they must be: Used routinely with EVERY patient W/ pregnant pt-must be given mult times

TWEAK: Tolerance, Worried, Eye-opener, Amnesia, K(C)ut Down T-ACE : Tolerance, Annoyed, Cut down, Eye-opener CRAFFT: Car, Relax, Alone, Forget, Family+/or Friends, Trouble

Laboratory Evaluation
o None are of much clinical use Alcohol is metabolized too FAST to use blood levels Most others indicate only long-term use problems High cost less feasible for universal screening

Strategies for Overcoming Barriers to Effective Screening

o o o o o o o Increase provider knowledge Increase provider comfort Designate support staff to assist with screening Screen EVERY patient & in conjunction with broader health behavior assessment screening Using clinic-based system protocols (patient questionnaires) to prompt provider Research alcohol treatment programs prior to need Educate payers: these strategies have worked for smoking cessation, breast cancer screening, diabetes e education. Currently not paid for!!

TWEAK:
1. How many drinks does it take to feel effects of alcohol 2. Have friends/relatives worried about your drinking in the past year? 3. Ever drank first thing in the morning? 4. Ever drank but cant remember what you said or did in the AM? 5. Ever feel the need to cut down on your drinking? Tolerance Worried Eye opener Amnesia Kut down 3 or more drinks = 2 points Yes= 2 points Yes = 1 point Yes = 1 point Yes = 1 point

5 POINTS = CONCERN T-ACE

1. Does it take more than it used to for you to get high? 2. Have you become Angry or Annoyed when other express concern about your use? 3. Have you tried to Cut down or quit? 4. Have you ever had a drink first thing in the AM Tolerance Angry or Annoyed Cut Down Eye opener Yes = 2 points Yes = 1 point Yes = 1 point Yes = 1 point

CRAFFT (for male & female adolescents)

1. Have you ever ridden in a Car driven by someone (including yourself) who was high or had been using alcohol or drugs? 2. Do you ever use alcohol or drugs to relax, feel better about yourself or fit in? 3. Do you ever use alcohol or drugs while you are by yourself? 4. Do you ever forget things you did while using alcohol or drugs? 5. Do your friends or family ever tell you that you should cut down on your drinking or drug use? 6. Have you ever gotten into Trouble while you were using alcohol or drugs? Car Yes =1 point

Relax Alone Forget Friends or family Trouble

Yes = 1 point Yes = 1 point Yes = 1 point Yes = 1 point Yes = 1 point

Steps in a Brief Intervention: FRAMES

Feedback
I am very concerned about how your drinking is affecting your health (sleeping, social issues, BP, headaches, elevated LFTs) I am concerned about your risk for developing liver disease There is no known safe limit for drinking during pregnancy. You may be causing harm to your baby.

Responsibility

What you do about your drinking is up to you. No one else can make you decide to change. Are you willing to work w/ me on /stopping your alcohol use?

Advice
I am worried about the level at which you are currently drinking. The current recommendations for you would be to drink less than 1 drink per day. (Explain what this is!)

Menu of Ways to Reduce or Stop Drinking

I would like for you to read this pamphlet that discusses the use of alcohol & suggest ways to help you cut down or stop drinking. I would like you to sign a Drinking Reduction Agreement I would like for you to keep a log of every drink you take & what you were doing at the time.

Empathetic Counseling Style (Very important)

I see from your drinking diary that you drank 5 beers last Saturday. It is important that we begin to identify what situations are proving to be risky for you so can you share w/ me what you were doing when you had those 5 drinks? NOT Why did you drink 5 beers last Saturday?

Self Efficacy

Can you share w/ me some ways that you think you could cope with going to that party where all of your friends will be drinking? I want you to remind yourself daily that you can drinking

Follow up
Schedule follow-up visit or phone call every 2 weeks or so during the early part of a brief intervention. Review progress, drinking diary, revise drinking