Diagnosis

WHAT ARE FETAL ALCOHOL SPECTRUM DISORDERS?

FASD is an umbrella term describing the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These effects may include physical, behavioral, mental, and/or learning disabilities with possible lifelong implications. FASD is not a diagnostic term. It refers to several conditions. The most well-known diagnosis is fetal alcohol syndrome (FAS). Signs of FAS include distinct facial features (smooth philtrum [groove between nose and upper lip], thin upper lip, small eye openings), growth deficiencies, and central nervous system (CNS) defects. The Institute of Medicine has identified three other diagnoses:

  • Partial FAS: facial anomalies and other symptoms without all the signs of FAS
  • Alcohol-related neurodevelopmental disorder (ARND): CNS defects and behavior problems or cognitive deficits (e.g., speech delays, hyperactivity)
  • Alcohol-related birth defects (ARBD): damage to organs, bones, or muscles
HOW CAN I RECOGNIZE FASD?

Only trained professionals can make a diagnosis. Teachers or relatives may identify a problem, but they cannot diagnose a FASD.

Signs that may indicate the need for assessment include:
  • Sleeping, breathing, or feeding problems;
  • Small head or facial or dental anomalies;
  • Heart defects or other organ dysfunction;
  • Deformities of joints, limbs, and fingers;
  • Slow physical growth before or after birth;
  • Vision or hearing problems;
  • Mental retardation or delayed development;
  • Behavior problems; and
  • Maternal alcohol use.

Treatment

For Diagnosis of FAS in Utah

Division of Medical Genetics
The University of Utah
50 North Medical Drive
Salt Lake City, Utah 84132
801-581-8943

  • You will first need a referral from you family practice doctor or a pediatrician.  Fax the referral to 801-581-8986
  • Upon receipt of the referral they will send you a packet to complete.  After the packet is turned in the wait is typically around six months. 

Physicians at the Division of Medical Genetics

  • Dr. John Carey
  • Dr. David Viskochil

For a neuropsychological assessment:

A Neuropsychologist is a licensed psychologist with additional specialized training in “brain behavior relationships”.  A neuropsychologist examines the neuropsychological strengths and weaknesses that are exhibited through specialized evaluation.

Mary K. Hales, PhD.
Clinical Neuropsychologist
1060 E. 100 S., Suite L1
Salt Lake City, UT 84102
mary.hales@neurodynamics.biz

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Frequently Asked Questions

FAS and Other Prenatal Alcohol-Related Conditions

Pregnancy and Alcohol Use

 

Q. What is FAS?

  • FAS stands for fetal alcohol syndrome. It is one of the leading known preventable causes of mental retardation and birth defects. FAS represents the severe end of a spectrum of effects that can occur when a woman drinks alcohol during pregnancy. Fetal death is the most extreme outcome. FAS is characterized by abnormal facial features, growth deficiency, and central nervous system (CNS) problems. People with FAS can have problems with learning, memory, attention span, communication, vision, hearing, or a combination of these things. These problems often lead to difficulties in school and problems getting along with others. FAS is a permanent condition. It affects every aspect of an individual’s life and the lives of his or her family. However, FAS is 100% preventable—if a woman does not drink alcohol while she is pregnant. Read this story from a dad of children with FASD about the effects of FASD.

Q. What are FAE, ARND, and ARBD?

  • Prenatal exposure to alcohol can cause a spectrum of disorders. Many terms have been used to describe children who have some, but not all, of the clinical signs of FAS. Three terms are fetal alcohol effects (FAE), alcohol-related neurodevelopmental disorder (ARND), and alcohol-related birth defects (ARBD). The term FAE has been used to describe behavioral and cognitive problems in children who were prenatally exposed to alcohol, but who do not have all of the typical diagnostic features of FAS. In 1996, the Institute of Medicine (IOM) replaced FAE with the terms ARND and ARBD. People with ARND can have functional or mental problems linked to prenatal alcohol exposure. These include behavioral or cognitive deficits, or both. Examples are learning difficulties, poor school performance, and poor impulse control. They can have difficulties with mathematical skills, memory, attention, judgment, or a combination of these. People with ARBD can have problems with the heart, kidneys, bones, hearing, or a combination of these.

Q. What are FASDs?

  • The term fetal alcohol spectrum disorders (FASDs) has emerged to address the need to describe the spectrum of disorders related to fetal alcohol exposure. It is an umbrella term describing the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These effects can include physical, mental, behavioral, learning disabilities, or a combination of these, with possible lifelong implications. The term FASDs is not intended for use as a clinical diagnosis. Unlike people with FAS, those with other prenatal alcohol-related conditions under the umbrella of FASDs do not show the identifying physical characteristics of FAS and, as a result, they often go undiagnosed.

Q. How common are fetal alcohol syndrome (FAS) and other prenatal alcohol-related conditions (known collectively as FASDs)?

  • The reported rates of FAS vary widely. These different rates depend on the population studied and the surveillance methods used. CDC studies show FAS rates ranging from 0.2 to 1.5 cases per 1,000 live births in different areas of the United States. Other prenatal alcohol-related conditions, such as ARND and ARBD, are believed to occur about three times as often as FAS.

Q. How do I know if my child has been affected by maternal alcohol use?

  • Children with FAS have evidence of growth deficiency, CNS problems, and a distinct pattern of facial characteristics such as a thin upper lip, smooth philtrum (the groove running vertically between the nose and lips), and small eye openings. For more detail about the diagnostic criteria for FAS, visit www.cdc.gov/ncbddd/fas/documents/FAS_guidelines_accessible.pdf. Children with different FASDs have CNS problems like children with FAS and/or a pattern of behavior or cognitive abnormalities such as learning difficulties and poor school performance. People with FASDs can have poor coordination or hyperactive behavior. They can have developmental disabilities such as speech and language delays, learning disabilities, mental retardation, or low IQ. They can have problems with self-care such as tying shoes or organizing one’s day. People with FASDs can have poor reasoning and judgment skills. Infants with FASDs have sleep and sucking disturbances. People with FASDs often have problems as they get older. These might include mental health problems, disrupted school experiences, trouble with the law, unemployment, inappropriate sexual behavior, or a combination of these. For more information about these secondary problems, please visit www.cdc.gov/ncbddd/fas/secondary.htm.

Q. I suspect my child, or a child in my care, might have FAS. What should I do?

  • If you think a child might have FAS or another prenatal alcohol-related disorder, contact the National Organization on Fetal Alcohol Syndrome (NOFAS). NOFAS has a directory of national and state services such as diagnostic and treatment services and family support groups. Go to www.nofas.org/ . At the home page, click on "e;Resources"e;. From there, click on "e;National & State Resource Directory"e;. From the map, click on your state for a list of services near you.

Q. Can FASDs be treated?

  • FASDs are permanent conditions. They last a lifetime and affect every aspect of a child’s life and the lives of his or her family members. There is no cure for these conditions. However, FASDs can be completely prevented—if a woman does not drink alcohol while she is pregnant. With early identification and diagnosis, a child with an FASD can get services that can help him or her lead a more productive life

Q. If a woman has an FASD, but does not drink during pregnancy, can her child have an FASD? Are FASDs hereditary?

  • FASDs are not genetic or hereditary. If a woman drinks alcohol during her pregnancy, her baby can be born with an FASD. But if a woman has an FASD, her own child cannot have an FASD, unless she drinks alcohol during pregnancy.

Q. What are the economic consequences of FAS?

  • The 10th Special Report to the U.S. Congress on Alcohol and Health estimated the annual cost of FAS in 1998 to be $2.8 billion. A recent report estimates that the lifetime cost for one individual with FAS in 2002 was $2 million. This is an average for all people with FAS. People with severe problems, such as profound mental retardation, have much higher costs.*

    *Source: Lupton C, Burd L, Harwood R. Cost of fetal alcohol spectrum disorders. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 2004;127C:42—50.

Q. Is there any safe amount of alcohol to drink during pregnancy? Is there a safe time during pregnancy to drink alcohol?

  • When a pregnant woman drinks alcohol, so does her unborn baby. There is no known safe amount of alcohol that a woman can drink during pregnancy. There is also no safe time during pregnancy to drink alcohol. Alcohol can have negative effects on a fetus in every trimester of pregnancy. Therefore, women should not drink if they are pregnant, planning to become pregnant, or could become pregnant (that is, sexually active and not using an effective form of birth control).

Q. What is a "drink"? What if I drink only beer or wine coolers?

  • All drinks containing alcohol can hurt an unborn baby. A standard drink is defined as .60 ounces of pure alcohol. This is equivalent to one 12-ounce beer or wine cooler, one 5-ounce glass of wine, or 1.5 ounces of 80 proof distilled spirits (hard liquor). Some alcoholic drinks have high alcohol concentrations and come in larger containers (22-45 ounce containers). There is no safe kind of alcohol. If you have any questions about your alcohol use and its risks to your health, talk to your health care provider. The American College of Obstetricians and Gynecologists (ACOG, 2006) has developed a physician’s guide illustrating standard-sized drinks for a number of beverages in a recent publication entitled, (Drinking and Reproductive Health: A Fetal Alcohol Spectrum Disorders Prevention Tool Kit). For a smaller document to help describe the number of ounces in a standard serving, see Drinking and Reproductive Health: Standard-Sized Drink Equvalents.

Q. How does alcohol cause these problems?

  • Alcohol in the mother's blood crosses the placenta freely and enters the embryo or fetus through the umbilical cord. Alcohol exposure in the first 3 months of pregnancy can cause structural defects (e.g., facial changes). Growth and CNS problems can occur from drinking alcohol any time during pregnancy. The brain is developing throughout pregnancy. It can be damaged at any time. It is unlikely that one mechanism can explain the harmful effects of alcohol on the developing fetus. For example, brain images of some people with FAS show that certain areas have not developed normally. The images show that certain cells are not in their proper place and tissues have died in some areas.

Q. Is there anything I can do now to decrease the chances of having a child with an FASD?

  • If a woman is drinking during pregnancy, it is never too late for her to stop. The sooner a woman stops drinking, the better it will be for her baby. A woman should use an effective form of birth control until her drinking is under control. If a woman is not able to stop drinking, she should contact her physician, local Alcoholics Anonymous, or local alcohol treatment center, if needed. The Substance Abuse and Mental Health Services Administration has a Substance Abuse Treatment Facility locator (findtreatment.samhsa.gov.) This locator helps people find drug and alcohol treatment programs in their area.

    If a woman is sexually active and not using an effective form of birth control, she should not drink alcohol. She could be pregnant and not know it for several weeks or more.

    Mothers are not the only ones who can prevent FASDs. Spouses, partners, family members, friends, schools, health and social service organizations, and communities can help prevent FASDs through education and support.

Q. I just found out I am pregnant. I have stopped drinking now, but I was drinking in the first few weeks of my pregnancy, before I knew I was pregnant. Could my baby have an FASD? What should I do now?

  • The most important thing is that you have completely stopped drinking after learning of your pregnancy. It is never too late to stop drinking. The sooner you stop, the better the chances for your baby’s health. It is not possible to know what harm might have been done already. Some women can drink heavily during pregnancy and their babies do not seem to have any problems. Others drink less and their babies show various signs of alcohol exposure. Many body parts and organs are developing in the embryonic stage (weeks 3 to 8 of the pregnancy). This is the time when most women do not know they are pregnant. There is no known safe amount of alcohol or safe time to drink alcohol during pregnancy. It is recommended not to drink at all if one is pregnant or planning to become pregnant. Also, if a woman is sexually active and not using an effective form of birth control, she should avoid alcohol. The best advice is to try not to be alarmed, talk to your doctor about this, and be sure to receive routine prenatal care throughout your pregnancy.

Q. Can a father’s drinking cause FASDs?

  • How alcohol affects the male sperm is currently being studied. Whatever the effects are found to be, they are not FASDs. FASDs are caused specifically by the mother’s alcohol use during pregnancy. However, the father’s role is important. He can help the woman avoid drinking alcohol during pregnancy. He can encourage her abstinence from alcohol by avoiding social situations that involve drinking. He can also help her by avoiding alcohol himself.

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