Identifying Individuals with Prenatal Alcohol Exposure
FASD is known as a “hidden disability” because most individuals affected by FASD are not diagnosed until adolescence, adulthood, if at all. School-aged children with fetal alcohol-related problems are usually only identified when they are referred for a learning disability or an attention deficit disorder. If clinicians can identify FASD early, intervention approaches can minimize the potential impact and prevent secondary disabilities.
Clinicians who see young children for routine check-ups have a special opportunity to identify children exposed to alcohol. The physician may want to ask the parent or caregiver bringing the child into the clinic about alcohol exposure during pregnancy. It is important to frame these questions in the context of the overall health of the child.
Impairments associated with FASD are often a reflection of underlying structural changes in the brain, as evidenced above by changes in the corpus callosum. An MRI might also reveal decrease in brain size, damage to the basal ganglia, or reduced size of the cerebellum.
If a birth mother brings in a child displaying symptoms of FASD, clinicians may want to start by asking about her current alcohol use before asking about alcohol use during pregnancy. Women are more willing to talk about this issue when physicians approach them in a caring, nonjudgmental way.
If a father brings in a child displaying symptoms of FASD, clinicians may want to ask about the mother’s use of alcohol currently as well as during the pregnancy. It is important to tell the father that these questions are routine and asked in the best interest of the child. The father may have helpful insights regarding the birth mother’s alcohol use.
If a foster parent or other caregiver brings in a child displaying symptoms of FASD, clinicians may want to ask if the caregiver has any knowledge of the birth mother’s alcohol use during pregnancy. It is always important to be tactful and sensitive when asking for this information. Again, stress that this information is for the child to receive quality health care and it is routine to ask these questions.
Criteria for Diagnosis
FASD is an umbrella term referring to the diagnosable conditions associated with prenatal alcohol exposure, including Fetal Alcohol Syndrome (FAS), partial Fetal Alcohol Syndrome (pFAS), and Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE).
In the World Health Organization’s (WHO) International Statistical Classification of Diseases (ICD-9), a system of diagnostic codes for classifying diseases and health conditions used worldwide in medical billing and coding to describe diseases, injuries, symptoms and conditions, FAS is indicated by code 760.71. A doctor in the United States would use this code to specify the diagnosis of FAS on a reimbursement claim. The ICD-9 code for FAS is a subset of code 760.7, noxious influences affecting fetus or newborn via placenta or breast milk. On October 2014, ICD-10 will replace ICD-9 in the U.S. The ICD-10 code for FAS is 86.0
Fetal Alcohol Syndrome
A diagnosis of FAS requires the presence of all three of the following findings:
1. Documentation of all three facial abnormalities, 1) smooth philtrum (the vertical groove between the upper lip and the nose), 2) thin vermillion border (the border between the lip and the adjacent normal skin), and 3) small palpebral fissures (the space between the corners of the eye opening);
2. Documentation of growth deficits
3. Documentation of central nervous system abnormalities (structural, neurological or functional, or combination thereof).
Confirmed prenatal alcohol use can strengthen the evidence for diagnosis, but it is not necessary in the presence of all the previous findings. Confirmed absence of alcohol exposure would rule out the FAS diagnosis.
[Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention]
Partial Fetal Alcohol Syndrome
A diagnosis of pFAS requires:
1. A confirmed history of prenatal alcohol exposure;
2. Central nervous system abnormalities at the same level as FAS.
Individuals with pFAS may or may not have growth deficiency or one or more of the facial abnormalities associated with FAS. Individuals with pFAS have the same functional disabilities but “look” less like an individual with FAS.
Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE)
The criteria set for diagnosing ND-PAE below is listed in Section III of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Section III consists of conditions on which future research is encouraged. It is hoped that such research will allow the field to better understand these conditions and will inform decisions about possible placement in forthcoming editions of DSM. The DSM-5 Task Force subjected the proposed ND-PAE criteria set to a careful empirical review and invited wide commentary from the field as well as from the general public. The Task Force determined that there was insufficient evidence to warrant inclusion of ND-PAE as an official mental disorder diagnosis in Section II. The ND-PAE criteria set is not intended for clinical use; only the criteria sets and disorders in Section II of DSM-5 are officially recognized and can be used for clinical purposes.
Although ND-PAE is not listed in Section II of DSM-5, clinicians may evaluate a patient for ND-PAE by recording “other specified neurodevelopmental disorder” followed by the specific reason, neurobehavioral disorder associated with prenatal alcohol exposure, and using code 315.8.
Proposed DSM-5 Criteria for Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE)
A. Exposed to alcohol at any time during gestation, including prior to pregnancy recognition, and the exposure level was more than minimal (i.e., more than 13 drinks in any one month, with no more than two drinks on any drinking occasion). Confirmation of gestational exposure to alcohol may be obtained from any of the following sources: maternal self report of alcohol use in pregnancy, collateral reports, or medical or other records.
B. Impaired neurocognitive functioning as manifested by one or more of the following:
1. Impairment in global intellect
2. Impairment in executive functioning
3. Impairment in learning
4. Memory impairment
5. Impairment in visual-spatial reasoning
C. Impaired self-regulation as manifested by one or more of the following:
1. Mood or behavior
3. Impulse control
D. Impairments in adaptive functioning in two or more of the following, including at least either (1) or (2):
2. Social communication and interaction
3. Daily living skills
4. Motor skills
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, academic, 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), another medical condition (e.g., traumatic brain injury, delirium, dementia), another known teratogen (e.g., Fetal Hydantoin syndrome), a genetic condition (e.g., Williams syndrome, Down syndrome, Cornelia de Lange syndrome), or environmental neglect.