Fetal Alcohol Spectrum Disorders (FASD)

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Fetal Alcohol Spectrum Disorders (FASD)

  1. 1. Overview of Fetal Alcohol Spectrum Disorders (FASD) Natalie Novick Brown, PhD University of Washington natnb@u.washington.edu Fetal Alcohol Spectrum Disorders (FASD) Fetal Alcohol Spectrum Disorders (FASD) is an umbrella term (not a diagnosis) that involves a range of lifelong physical, mental, and neurobehavioral birth defects caused by prenatal exposure to alcohol. Fetal Alcohol Syndrome (FAS) is a birth defect involving a constellation of physical, behavioral, and cognitive abnormalities caused by “prenatal alcohol exposure, which produces a spectrum of lifelong effects on offspring depending on the dose, timing and conditions of exposure” (Streissguth & Connor, 2001). Fetal Alcohol Effects (FAE) involves a range of cognitive and behavioral disorders caused by prenatal alcohol exposure. The diagnosis “FAE” was replaced by other, more specific, diagnoses (i.e., ARND and ARBD) with the publication of Institute of Medicine guidelines in 1996. Alcohol Related Neurodevelopmental Disorder (ARND) is diagnosed when an individual meets criteria for brain damage but does not have all of the facial features and/or growth deficits of FAS. Evidence of prenatal alcohol exposure is not necessary for a diagnosis of ARND. Alcohol Related Birth Defects (ARBD) is diagnosed when an individual displays physical abnormalities associated with prenatal alcohol exposure. Fetal Alcohol Syndrome (FAS) According to diagnostic guidelines published in 2004 by the Center for Disease Control and Prevention (CDC), an FAS diagnosis requires documentation of all three facial abnormalities, growth deficits, and CNS abnormality: Facial Dysmorphia Smooth philtrum (University of Washington Lip-Philtrum Guide rank 4 or 5) Thin vermillion border (University of Washington Lip Guide rank 4 or 5) Small palpebral fissures (at or below 10th percentile)
  2. 2. Growth Problems confirmed prenatal or postnatal height or weight or both, at or below the 10th percentile, documented at any one point in time (adjusted for age, sex, gestational age, and race or ethnicity) Central Nervous System Abnormalities 1) structural head circumference at or below the 10th percentile, adjusted for age and sex, or clinically significant brain abnormalities observable through imaging 2) neurological: neurological problems not due to a postnatal insult or fever, or other soft neurological signs outside normal limits 3) functional: performance substantially below that expected for an individual’s age, schooling, or circumstances, as evidenced by: global cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental delay in younger children) with performance below the 3rd percentile (2 standard deviations below the mean for standardized testing) functional deficits below the 16th percentile (1 standard deviation below the mean for standardized testing) in at least there of the following domains: a) cognitive or developmental deficits or discrepancies b) executive functioning deficits c) motor functioning delays d) problems with attention or hyperactivity e) social skills f) other, such as sensory problems, pragmatic language problems, memory deficits, etc. Maternal Alcohol Exposure Can be “confirmed” or “unknown” prenatal alcohol exposure Alcohol Related Neurodevelopmental Disorder (ARND) ARND has been described as a “less severe” set of the same symptoms described in FAS. This statement is misleading because while the characteristic facial features might be absent, but the internal brain damage may be just as severe. This is because there is only a short window of time during pregnancy when the facial features are forming. Thus, the child’s face will appear physically “normal.” Some of the behaviors associated with ARND include:
  3. 3. Infants Fitful sleep patterns Electroencephalogram (EEG) abnormalities Failure to thrive Feeding difficulties Increased sensitivity to light and sound / easily over-stimulated Neurological dysfunction Poor fine/gross motor control Irritability Resistance to soothing / touch Seizures, tremors, jitteriness Toddler and Preschool Uneven sleep patterns Emotional over-reaction and tantrums Hyperactivity Lack of impulse control Distractibility Mental retardation Speech delays (poor articulation, slow vocabulary or grammar development, perseverative speech) Poor eye-hand coordination Delays in gross motor skills (e.g., walking, toilet training) Poor judgment (e.g., difficulty recognizing danger, not fearing strangers, overly friendly) Unmanageability Unable to grasp cause and effect Difficulty following directions Memory problems Small size Early school age Difficulty predicting outcomes/consequences Behavioral outbursts Delayed physical maturity Hyperactivity Attention deficits Memory problems Poor impulse control (e.g., lying, stealing, defiant acts) Social boundary violations Lack of empathy Sensation-seeking Manipulative Learning disabilities
  4. 4. Language disabilities Cognitive disabilities Small size Social difficulties (overly friendly, immaturity, easily influenced, difficulty with choices) Adolescence Antisocial behaviors such as lying, stealing, running away Substance abuse Victimization Depression Pregnancy Low self-esteem Lack of motivation Low academic achievement Inappropriate sexual behavior Resistant to change Manipulative Unaware of normal hygiene needs Susceptible to suggestion (e.g., peers, movies, television, interrogation) Unable to take responsibility for their actions Adults Mental illness Substance abuse Criminal conduct Lack of job skills / employability Unpredictable behavior Inappropriate sexual behavior Unplanned pregnancy Residential placement Domestic violence Financial irresponsibility Alcohol’s Effects on the Developing Fetus The placenta passes nourishment and oxygen from the mother to the developing fetus while protecting the fetus from harmful bacteria. Alcohol in the mother’s bloodstream crosses the placenta freely and enters the fetus through the umbilical cord. Alcohol is a teratogen. Teratogens kill developing cells in the fetus or affect their migration and distribution throughout the organism, most notably in the brain and other parts of the central nervous system. This destructive process occurs at any point in pregnancy when alcohol is consumed, affecting whatever development is occurring in the fetus at that moment in time. As the brain is
  5. 5. developing throughout pregnancy, alcohol consumption at any point during gestation can cause brain damage (Streissguth, 1997). Alcohol and the Brain Static encephalopathy is a term often used to describe the type of damage that prenatal alcohol exposure causes in the brain. The damage to the brain is permanent but not progressive. Because alcohol causes cell death, certain parts of the brain will have fewer than normal cells. Alcohol also can impede the transport of amino acids (building blocks of protein) and glucose (the primary source of energy for cells) and blood flow through the placenta, causing oxygen deprivation to the developing brain. It also can disturb hormone production and brain chemistry regulation that control the maturation and migration of nerve cells in the brain. Affected Brain Structures Five areas in the brain are particularly affected by prenatal alcohol exposure: hippocampus, cerebellum, basal ganglia, frontal lobes, and corpus callosum. Hippocampus: damage affects the ability to store new memories Cerebellum: damage affects learning, balance, and coordination Basal Ganglia: damage causes deficits in spatial memory and the ability to shift from one task to another and inhibit inappropriate behavior Frontal Lobe: The frontal lobes of the brain are involved in the higher-level cognitive abilities (i.e., executive functioning), such as problem-solving, abstract thinking, planning, and flexibility. Damage to the frontal lobes causes deficits in processing information, storing and/or retrieving information, inhibiting behavior, perceiving social cues and subtle information, organizing responses, and comprehending abstract concepts such as time, money, consequences. Corpus Callosum: The corpus callosum is the large bundle of fibers that connects the two lobes of the brain and allows communication between them. Prenatal alcohol exposure is the major cause of impaired development or complete absence of this structure. Damage to the corpus callosum causes deficits in: attention
  6. 6. intellectual functioning reading learning verbal memory psychosocial functioning (i.e., executive functioning) If the corpus callosum cannot access the appropriate information quickly enough (or at all), then reaction to stimuli will be completely spontaneous. For example, the individual may be able to physically hear instructions (right hemisphere) but be unable to process the meaning of the request and develop an appropriate response (left hemisphere). Approximately 7% of children prenatally exposed to alcohol completely lack a corpus callosum. In many other FASD individuals, the corpus callosum is significantly damaged. Executive Functioning Children with FAS and ARND are often misdiagnosed with attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) and therefore treated ineffectively (usually with stimulant medication). Children with ADD/ADHD not only exhibit problems in these areas but deficits in many other areas of executive functioning as well. Executive functions can have profound real-life implications for people with FAS or ARND. Deficits in executive functioning leads to multiple problems in adaptive functioning and, in adolescence and adulthood, to secondary disabilities. Real-Life Problems Brain damage in FASD-affected children causes many problems in adaptive day- to-day functioning. Two of these problems that can cause serious consequences in terms of behavior control are: Impaired Self/Other Awareness Affected children appear to lack personal boundaries and do not recognize them in others, which can result in exploitation by others, increased risk of inappropriate sexual behaviors or sexual victimization, stealing, etc. Affected children have reading and understanding social cues in others (e.g., facial expression, body language, subtle verbal messages) and responding reciprocally in social interactions. As a result, they often become “loners” or associate with much younger children. Deficits in self/other awareness cause delays in social development. Impaired Emotion Modulation Affected children lack the ability to self-soothe. This deficit manifests in the infant as a tendency to become hyper-aroused to stimuli and an inability to calm down
  7. 7. once aroused. This deficit may evolve into mental health problems as well as temper tantrums in childhood and outbursts of rage in adolescents and adults. Deficits in emotion modulation cause delays in emotional development. Coupled with impulse control deficits and inability to consider consequences, impaired emotion modulation can lead to violence. FASD Is Grossly Under-diagnosed and Reported There is no known “safe” level of alcohol consumption during pregnancy. Even low levels of consumption (i.e., 1 drink per week) or infrequent “binge” drinking are associated with child behavior problems. The more alcohol consumed during any point in pregnancy, the greater the risk. It is significant in terms of the potential scope of this problem that many women are 2 to 3 months pregnant before they learn of the pregnancy. Currently, FAS alone is estimated to occur at rates of 5-30 births per 10,000 live births, depending on the population studied. There is no way to estimate accurately the prevalence of ARND or ARBD. Doctors receive very little training in detecting FASD, and few conduct thorough screening of pregnant mothers for alcohol use. While pediatricians and other specialists may receive training in recognizing the FAS “face,” they do not receive training in recognizing the many (and sometimes subtle) behavioral manifestations of ARND. Many doctors prefer to use less “judgmental” diagnoses such as attention deficit disorder, learning disorder, reactive attachment disorder, oppositional defiant disorder, bipolar disorder, etc. Failure to diagnose FASD in early childhood significantly increases the risk of secondary disabilities. Secondary Disabilities For FASD, a “primary disability” is a condition that results from brain damage caused by prenatal alcohol exposure. These conditions include the resulting structural malformation of the brain and associated functional deficits. “Secondary disabilities” are the conditions that arise as a result of the central nervous system deficits associated with FASD (Streissguth, et al., 1996). Of individuals with FASD who are between the ages of 12 and 51, 94% will have mental health problems, 82% will not be able to live independently, 78% will have problems with employment, 43% will have disrupted school experiences, 42% will experience trouble with the law, 45% will exhibit inappropriate sexual behavior,
  8. 8. 33% will be confined in prison, substance abuse treatment facilities, or mental institutions, 21% will have substance abuse problems. To prevent or reduce these secondary disabilities, accurate diagnosis in early childhood and a structured, nurturing, stable home are essential. Hidden Disability Because most individuals with FASD “look normal,” they are expected to “act normal.” The vast majority of individuals affected by prenatal alcohol exposure do not have the characteristic facial features or growth deficiency seen in FAS. Those with ARND never display these physical markers. Even in children diagnosed with FAS, puberty usually erases the physical markers of the diagnosis. Thus, by the time an affected individual is in his/her midteens, there typically is no way to “see” the condition except with brain imaging techniques such as magnetic resonance imaging (MRI). However, even MRIs cannot detect all of the subtle (but significant) anomalies in brain structure. Thus, not having obvious FAS that is diagnosed in early childhood is a major risk factor for development of secondary disabilities. Individuals with FASD tend to be followers, easily misled by others, with little or no judgment or appreciation of consequences. Without early and appropriate intervention, they often enter the justice system “revolving door” and/or become homeless street people. 10 Common Misconceptions About FAS/ARND (Streissguth, 1997) 1. FAS = mental retardation 2. Behavior problems associated with FAS/ARND are the result of poor parenting or a bad living environment. 3. They will “outgrow” it when they grow up 4. They are brain damaged so we should give up on them 5. Diagnosing them will brand them for life 6. They are unmotivated when they don’t keep appointments or don’t act in a way we consider responsible 7. One agency can solve any or all of the problems alone 8. This problem will be solved with existing knowledge 9. The problem will go away 10. Their mothers had an easy choice not to drink during pregnancy, and through callousness or indifference, they permanently damaged their children

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