Fetal Alcohol Syndrome

BACKGROUND

Description and Cause

Fetal Alcohol Syndrome (FAS) is a constellation of physical and mental birth defects that is the direct result of prenatal alcohol exposure (maternal alcohol ingestion during pregnancy). The National Council on Alcoholism outlines three necessary criteria for diagnosis: abnormalities in growth, central nervous system dysfunction, and characteristic facial features. FAS is the most common preventable cause of mental retardation. Fetal Alcohol Effect (FAE), or Alcohol Related Neurodevelopmental Disorder (ARND), is a less severe condition with similar symptoms. This includes those children who may have significant neuropathology related to fetal alcohol exposure, but may not have classical findings of growth failure and facial dysmorphology The term Fetal Alcohol Spectrum Disorders (FASD) can also encompasses another diagnostic category called Alcohol Related Birth Defects (ARBD) this could also be used interchangeably with FAE or ARND.

Although there is much debate on the amount of alcohol ingestion required to cause Fetal Alcohol Syndrome, animal research shows that a single exposure to high levels of ethanol can kill nerve cells in the developing brain. In general, FAS occurs in the following frequencies based on the amount and frequency of alcohol ingestion during pregnancy:

4 to 6 drinks*/day — 40% FAS
2-4 drinks/day — 11% FAS
1 drink/day — 1% FAS

*One drink is approximately 12 oz. beer, 4 oz. wine, or 1 oz. liquor/spirits.

Note: The effect of alcohol on the growing, developing embryo and fetus is still not completely understood. The exact mechanisms by which alcohol induces malformations may be a direct toxic effect of ethanol or a combination of ethanol and metabolite acetaldehyde.

Occurrence

Fetal Alcohol Syndrome: 0.5 – 2:1,000 live births (FAS is believed to be widely under-diagnosed)
Fetal Alcohol Spectrum Disorder and (Fetal Alcohol Effect/Alcohol Related Neurodevelopmental Disorder): 3-10:1000 live births

Characteristic Features

Central nervous system dysfunction (80%+)
Ptosis, strabismus, epicanthal folds
Infantile irritability (80%+)
Impulsivity and hyperactivity (50%)
Poor coordination (50%)
Hypotonia (50%)
Decreased adipose tissue (50%)
Visual and hearing problems (20-50%)
Cardiac abnormalities (20-30%)
Hemangiomas (20-30%)
Skeletal abnormalities
Urogenital problems
Dental abnormalities

Diagnosis

History of maternal alcohol ingestion during pregnancy
Low birth weight (80%+)
Microcephaly (80%+)
Prenatal and postnatal growth deficiency (80%+)
Characteristic facial features (80%+) (small head size, narrow eye slits, flat midface, low nasal ridge, loss of groove between nose and upper lip)

Common Behavior & Emotional Consequences

Difficulty with habilitation
Difficulty with self regulation
Impulsivity
Attention Deficit Hyperactivity Disorder
Slow CNS processing
Difficulties in memory, abstracting and with arithmetic
Poor judgment
Time and space disorientation

Common Associations

Attention Deficit Hyperactivity Disorder (50%)
Psychiatric disorders, such as depression and anxiety disorders
Cleft Lip +/- palate
Genital defects
Kidney defects
Alcohol and/or drug dependence

Secondary Disabilities

Alcohol and other substance abuse
Inappropriate sexual behaviors
Disrupted school experience
Mental health problems
Trouble with the law

MEDICAL MANAGEMENT CONSIDERATIONS

Note: These considerations are in addition to the normal medical care provided to an individual without Fetal Alcohol Syndrome. In general, children with Fetal Alcohol Syndrome do not require significantly more than routine medical care. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted.

Ongoing (all ages)

Monitor for growth deceleration (if head growth decelerates, obtain brain imaging studies because this is unusual in FAS)
Obtain renal imaging studies if urinary tract infections or other urogenital problems appear
Refer for echocardiogram if clinical suspicion of anatomical or functional cardiac concern
Monitor for mental or behavioral change

Infancy (Birth to 1 year)

Perform complete physical and neurological exam to detect congenital anomalies
Assess central nervous system anomalies (MRI)
Assess cardiac function
Assess vision
Assess hearing (BAER)
Refer to registered dietician for nutrition
Refer for physical and occupational therapy evaluation if needed
Discuss recurrence risk with birth mothers that may approach 100%
Refer to early intervention programs and Fetal Alcohol Syndrome/disability support groups
Discuss possibility of adoption or foster care for more stable social environment

Childhood (1 to 13 years)

Assess vision every 2 years
Monitor speech and language progress
Refer for speech and language therapy evaluation if necessary
Refer for psychiatric evaluation if necessary
Consider stress and behavioral management training
Recommend and arrange for dental care
Refer for orthodontic treatment in late childhood if necessary
Monitor school progress
Minimize changes or disruptions in caregiver(s) and environment

Adolescence and Adulthood (13 years and over)

Monitor for alcohol and/or drug abuse; counsel to avoid alcohol; refer to substance abuse counseling as needed
Monitor for mental or behavioral change; provide appropriate mental health interventions and referrals as needed
Provide education regarding sexual development
Minimize changes or disruptions in caregiver(s) and environment
Discuss alternative community living resources
Discuss long-term financial plans
Monitor prevocational training and vocational activities
Discuss community-supported employment opportunities

Teaching Strategies

Place in calm, orderly environment
Establish clear, consistent rules
Use simple concrete instructions
Help student set realistic goals
Monitor performance to facilitate success
Avoid repeat failures and prevent loss of control
Balance structure with responsibility
Plan ahead for change and supervise transitions
Teach functional social skills
Work closely with student’s family members
Take a life span approach
Develop good work habits and skills for the present and future

REFERENCES

Peer-reviewed Journal Articles/Academies

American Academy of Pediatrics. (1993). Fetal Alcohol Syndrome and Fetal Alcohol Effects. Pediatrics 91(5), 1004-1006.

Bagheri, M. M., et al. (1998). Fetal Alcohol Syndrome: Maternal and Neonatal Characteristics. Journal of Perinatal Medicine 26(4), 263-269.

Centers for Disease Control and Prevention, National Center for Environmental Health, Division of Birth Defects and Developmental Disabilities. (2005). FAS Guidelines for Referral and Diagnosis Retrieved on January 30, 2006 from http://www.cdc.gov/ncbddd/fas/documents/FAS_guidelines_accessible.pdf

Johnson V.P., et al. (1996). Fetal Alcohol Syndrome: Craniofacial and Central Nervous System Manifestations. American Journal of Medical Genetics 61(4), 329-339.

National Academy of Sciences, Institute of Medicine. (1996). Fetal Alcohol Syndrome. Retrieved on January 30, 2006 from http://www.nap.edu/readingroom/books/fetal/summary.html

Stratton, K., Howe, C., & Battaglia, F. (1996). Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. National Academy of Sciences, Institute of Medicine, Committee to Study Fetal Alcohol Syndrome.

Special Interest Groups/Other Publications

Hagerman, R. J. (1999). Fetal Alcohol Syndome. In: Neurodevelopmental Disorders: Diagnosis and Treatment (pp. 3-60.) New York: Oxford University Press.

Leppert, M. & Hofman, K. (1996). In: Developmental Disabilities in Infancy and Childhood vol II: The Spectrum of Developmental Disabilities. In A.J. Capute, & P.J. Accardo (Eds) Baltimore: Paul H. Brookes Publishing Co.

National Organization on Fetal Alcohol Syndrome. (2005). What is Fetal Alcohol Syndrome (FAS). Retrieved on January 30, 2006 from http://www.nofas.org/faqs.aspx?id=9

Streissguth, A. (1997). A Guide for Families and Communities: Fetal Alcohol Syndrome. Brooks Publishing.

RESOURCES FOR FAMILIES

California Department of Developmental Services, 916-654-1690,

http://www.dds.ca.gov

California Fetal Alcohol Spectrum Organization,

http://www.calfas.org

California Regional Centers, 915-654-1958,

http://www.dds.ca.gov/rc/RCInfo.cfm

The Clearinghouse for Drug Exposed Children (UC San Francisco), 415-476-9691

Exceptional Parent Magazine, 800-247-8080,

http://www.eparent.com

FAS/FAE Newsletter, 907-456-2866

Fetal Alcohol Education Program (Boston, MA)

The Fetal Alcohol Network Newsletter, 610-384-1133

Fetal Alcohol Syndrome Consultation, Education and Training Services, Inc.,

http://www.fascets.org

The Fetal Alcohol Syndrome Family Resource Institute, 253-531-2878,

http://www.fetalalcoholsyndrome.org

March of Dimes Birth Defects Foundation, 914-428-7100,

http://www.modimes.org

National Clearinghouse for the Prevention of Perinatal Abuse of Alcohol and Other Drugs, 800-354-8824

National Family Empowerment Network: Supporting Families Affected by FAS and FAE, 800-462-5254

National Organization on Fetal Alcohol Syndrome, 202-785-4585,

http://www.nofas.org

Substance Abuse and Mental Health Services Administration

http://www.samhsa.gov

National Center on Birth Defects and Developmental Disabilities, 404-498-3947

http://www.cdc.gov/ncbddd

ADVISORY COMMITTEE

Theodore A. Kastner, M.D., M.S.

Felice Weber Parisi, M.D., M.P.H.

Robin L. Hansen, M.D.

Patrick J. Maher, M.D.

Terrance D. Wardinsky, M.D.

Samuel P. Yang, M.D.

PUBLICATION INFORMATION

Funded by a grant from the California Department of Developmental Services

For more information, contact:

Center for Health Improvement

1330 21st Street, Suite 100

Sacramento, CA 95814

(916) 901-9645

This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services and the Center for Health Improvement.