Fetal alcohol spectrum disorder
Encyclopedia
Fetal Alcohol Spectrum Disorders (FASD) describes a continuum of permanent birth defects caused by maternal
Mother
A mother, mum, mom, momma, or mama is a woman who has raised a child, given birth to a child, and/or supplied the ovum that grew into a child. Because of the complexity and differences of a mother's social, cultural, and religious definitions and roles, it is challenging to specify a universally...

 consumption of alcohol
Alcohol
In chemistry, an alcohol is an organic compound in which the hydroxy functional group is bound to a carbon atom. In particular, this carbon center should be saturated, having single bonds to three other atoms....

 during pregnancy
Pregnancy
Pregnancy refers to the fertilization and development of one or more offspring, known as a fetus or embryo, in a woman's uterus. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets...

, which includes, but is not limited to fetal alcohol syndrome
Fetal alcohol syndrome
Fetal alcohol syndrome is a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy. Current research also implicates other lifestyle choices made by the prospective mother...

 (FAS). Approximately 1 percent of children are believed to suffer from fetal alcohol spectrum disorder.

Over time, as it became apparent through research and clinical experience that a range of effects (including physical, behavioral, and cognitive) could arise from prenatal alcohol exposure, the term Fetal Alcohol Spectrum Disorders, or FASD, was developed to include Fetal alcohol syndrome
Fetal alcohol syndrome
Fetal alcohol syndrome is a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy. Current research also implicates other lifestyle choices made by the prospective mother...

 (FAS) as well as other conditions resulting from prenatal alcohol exposure. There are a number of other subtypes with evolving nomenclature and definitions based on partial expressions of FAS, including Partial Fetal Alcohol Syndrome (PFAS), Alcohol-Related Neurodevelopmental Disorder (ARND), Alcohol-Related Birth Defects (ARBD), and Fetal Alcohol Effect (FAE).

The term Fetal Alcohol Spectrum Disorders is not in itself a clinical diagnosis but describes the full range of disabilities that may result from prenatal alcohol exposure. Currently, Fetal Alcohol Syndrome
Fetal alcohol syndrome
Fetal alcohol syndrome is a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy. Current research also implicates other lifestyle choices made by the prospective mother...

 (FAS) is the only expression of prenatal alcohol exposure that is defined by the International Statistical Classification of Diseases and Related Health Problems
ICD
The International Statistical Classification of Diseases and Related Health Problems is a medical classification that provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease...

 and assigned ICD-9 and ICD-10
ICD-10
The International Statistical Classification of Diseases and Related Health Problems, 10th Revision is a medical classification list for the coding of diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases, as maintained by the...

 diagnoses.

There is no known safe amount of alcohol or safe time to drink alcohol during pregnancy. Because of this, the current recommendation of both the Surgeon General of the United States and the British Department of Health is to drink no alcohol at all if one is pregnant or planning to become pregnant.

Diagnostic systems

The original syndrome of Fetal Alcohol Syndrome (FAS) was reported in 1973, four FASD diagnostic systems that diagnose FAS and other FASD conditions have been developed in North America:
  • The Institute of Medicine
    Institute of Medicine
    The Institute of Medicine is a not-for-profit, non-governmental American organization founded in 1970, under the congressional charter of the National Academy of Sciences...

    's guidelines for FAS, the first system to standardize diagnoses of individuals with prenatal alcohol exposure,
  • The University of Washington
    University of Washington
    University of Washington is a public research university, founded in 1861 in Seattle, Washington, United States. The UW is the largest university in the Northwest and the oldest public university on the West Coast. The university has three campuses, with its largest campus in the University...

    's "The 4-Digit Diagnostic Code," which ranks the four key features of FASD on a Likert scale
    Likert scale
    A Likert scale is a psychometric scale commonly involved in research that employs questionnaires. It is the most widely used approach to scaling responses in survey research, such that the term is often used interchangeably with rating scale, or more accurately the Likert-type scale, even though...

     of one to four and yields 256 descriptive codes that can be categorized into 22 distinct clinical categories, ranging from FAS to no findings,
  • The Centers for Disease Control's "Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis," which established consensus on the diagnosis FAS in the U.S. but deferred addressing other FASD conditions, and
  • Canadian guidelines for FASD diagnoses, which established criteria for diagnosing FASD in Canada
    Canada
    Canada is a North American country consisting of ten provinces and three territories. Located in the northern part of the continent, it extends from the Atlantic Ocean in the east to the Pacific Ocean in the west, and northward into the Arctic Ocean...

     and harmonized most differences between the IOM and University of Washington's systems.


Each diagnostic system requires that a complete FASD evaluation include assessment of the four key features of FASD, described below. A positive finding on all four features is required for a diagnosis of FAS, the first diagnosable condition of FASD that was discovered. However, prenatal alcohol exposure and central nervous system damage are the critical elements of the spectrum of FASD, and a positive finding in these two features is sufficamanient for an FASD diagnosis that is not "full-blown FAS." Diagnoses are described in a following section.

Epidemiology

Approximately 1 percent of children are affected by fetal alcohol spectrum disorder; the majority of these children fail to receive a proper diagnosis of fetal alcohol spectrum disorder. One study found that 6 out of 7 first grade age children failed to receive a diagnosis and another study found that of 40 new born babies with obvious fetal alcohol syndrome 100 percent left the hospital without a diagnosis.

Key features of FASD

Each of the key features of FASD can vary widely within one individual exposed to prenatal alcohol. While consensus exists for the definition and diagnosis of FAS across diagnostic systems, minor variations among the systems lead to differences in definitions and diagnostic cut-off criteria for other disgnoses across the FASD continuum. (The central nervous system
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...

 (CNS) damage criteria particularly lack clear consensus.) A working knowledge of the key features is helpful in understanding FASD diagnoses and conditions, and each are reviewed with attention to similarities and differences across the four diagnostic systems.

Growth deficiency

In terms of FASD, growth
Human development (biology)
Human development is the process of growing to maturity. In biological terms, this entails growth from a one-celled zygote to an adult human being.- Biological development:...

 deficiency is defined as significantly below average height
Human height
Human height is the distance from the bottom of the feet to the top of the head in a human body standing erect.When populations share genetic background and environmental factors, average height is frequently characteristic within the group...

, weight or both due to prenatal alcohol exposure, and can be assessed at any point in the lifespan
Maximum life span
Maximum life span is a measure of the maximum amount of time one or more members of a population has been observed to survive between birth and death.Most living species have at least one upper limit on the number of times cells can divide...

. Growth measurements must be adjusted for parental height, gestational age
Gestational age
Gestational age relates to the age of an embryo or fetus . There is some ambiguity in how it is defined:*In embryology, gestational age is the time elapsed since conception. This interval is also termed fertilisation age....

 (for a premature infant
Premature birth
In humans preterm birth refers to the birth of a baby of less than 37 weeks gestational age. The cause for preterm birth is in many situations elusive and unknown; many factors appear to be associated with the development of preterm birth, making the reduction of preterm birth a challenging...

), and other postnatal
Postnatal
Postnatal is the period beginning immediately after the birth of a child and extending for about six weeks. Another term would be postpartum period, as it refers to the mother...

 insults (e.g., poor nutrition), although birth height and weight are the preferred measurements. Deficiencies are documented when height or weight falls at or below the 10th percentile of standardized growth charts appropriate to the patient's population.

Criteria for FASD are least specific in the IOM diagnostic system ("low birth weight..., decelerating weight not due to nutrition..., [or] disproportional low weight to height" p. 4 of executive summary), while the CDC and Canadian guidelines use the 10th percentile as a cut-off to determine growth deficiency. The "4-Digit Diagnostic Code" allows for mid-range gradations in growth deficiency (between the 3rd and 10th percentiles) and severe growth deficiency at or below the 3rd percentile. Growth deficiency (at severe, moderate, or mild levels) contributes to diagnoses of FAS and PFAS, but not ARND or static encephalopathy.

Growth deficiency is ranked as follows by the "4-Digit Diagnostic Code:"
  • Severe – Height and weight at or below the 3rd percentile.
  • Moderate – Either height or weight at or below the 3rd percentile, but not both.
  • Mild – Either height or weight or both between the 3rd and 10th percentiles.
  • None – Height and weight both above the 10th percentile.


In the initial studies that discovered FAS, growth deficiency was a requirement for inclusion in the studies; thus, all the original patients with FAS had growth deficiency as an artifact of sampling
Sampling
Sampling may refer to:*Sampling , converting a continuous signal into a discrete signal*Sampling , converting continuous colors into discrete color components*Sampling , re-using portions of sound recordings in a piece...

 characteristics used to establish criteria for the syndrome. That is, growth deficiency is a key feature of FASD because growth deficiency was a criterion for inclusion in the original study that determined the definition of FAS. This reinforces assertions that growth deficiency and FAS facial features are less critical for understanding the disability's of FASD than the neurobehavioral sequelae to the brain damage.

FAS facial features

Several characteristic craniofacial
Craniofacial
Craniofacial may be used to describe certain congenital malformations, injuries, surgeons who subspecialize in this area, multi-disciplinary medical-surgical teams that treat and do research on disorders affecting this region, and organizations with interest in...

 abnormalities are visible in individuals with FAS, but these may be mild or even non-existent in other FASD conditions.

Refinements in diagnostic criteria since 1975 have yielded three distinctive and diagnostically significant facial features known to result from prenatal alcohol exposure and distinguishes FAS from other disorders with partially overlapping characteristics. The three FAS facial features are:
  • A smooth philtrum
    Philtrum
    The philtrum , is a medial cleft common to many mammals, extending from the nose to the upper lip, and, together with a glandular rhinarium and slit-like nostrils, is believed to constitute the primitive condition for mammals in general...

     – The divot or groove between the nose and upper lip flattens with increased prenatal alcohol exposure.
  • Thin vermilion – The upper lip
    Upper lip
    The upper lip covers the anterior surface of the body of the maxilla.Its upper half is of usual skin color and has a depression at its centre, directly under the nasal septum, called the philtrum, while its lower half is a markedly different, red-colored skin tone more similar to the colour of the...

     thins with increased prenatal alcohol exposure.
  • Small palpebral fissures – Eye-width shortens with increased prenatal alcohol exposure.


Measurement of FAS facial features uses criteria developed by the University of Washington. The lip and philtrum are measured by a trained physician with the Lip-Philtrum Guide, a 5-point Likert Scale with representative photographs of lip and philtrum combinations ranging from normal (ranked 1) to severe (ranked 5). Palpebral fissure length (PFL) is measured in millimeters with either calipers or a clear ruler and then compared to a PFL growth chart, also developed by the University of Washington.

All four diagnostic systems have agreed upon this method for determining FAS facial feature severity rankings. Ranking FAS facial features is complicated because the three separate facial features can be affected independently by prenatal alcohol.

Central nervous system damage

Central nervous system
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...

 (CNS) damage is the primary key feature of any FASD diagnosis. Prenatal alcohol exposure, a teratogen, can damage the brain across a continuum of gross to subtle impairments, depending on the amount, timing, and frequency of the exposure as well as genetic predispositions of the fetus and mother. While functional abnormalities are the behavioral and cognitive expressions of the FASD disability, CNS damage can be assessed in three areas: structural, neurological, and functional impairments.

All four diagnostic systems allow for assessment of CNS damage in these areas, but criteria vary. The IOM system requires structural or neurological impairment for a diagnosis of FAS, but also allows a "complex pattern" of functional anomalies for diagnosing PFAS and ARND. The "4-Digit Diagnostic Code" and CDC guidelines allow for a positive CNS finding in any of the three areas for any FASD diagnosis, but functional anomalies must measure at two standard deviations or worse in three or more functional domains for a diagnoses of FAS, PFAS, and ARND. The "4-Digit Diagnostic Code" also allows for an FASD diagnosis when only two functional domains are measured at two standard deviations or worse. The "4-Digit Diagnostic Code" further elaborates the degree of CNS damage according to four ranks:
  • Definite – Structural impairments or neurological impairments for FAS or static encephalopathy.
  • Probable – Significant dysfunction of two standard deviations or worse in three or more functional domains.
  • Possible – Mild to moderate dysfunction of two standard deviations or worse in one or two functional domains or by judgment of the clinical evaluation team that CNS damage cannot be dismissed.
  • Unlikely – No evidence of CNS damage.

Structural

Structural abnormalities of the brain are observable, physical damage to the brain or brain structures caused by prenatal alcohol exposure. Structural impairments may include microcephaly
Microcephaly
Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...

 (small head size) of two or more standard deviations below the average, or other abnormalities in brain structure (e.g., agenesis
Agenesis
In medicine, agenesis refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue...

 of the corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...

, cerebellar hypoplasia
Cerebellar hypoplasia
Cerebellar hypoplasia is a developmental disorder characterized by the incomplete or underdevelopment of the cerebellum. It may be genetic or occur sporadically. Cerebellar hypoplasia may be caused by thyroid abnormalities, environmental influences such as drugs and chemicals or viral infections or...

).

Microcephaly is determined by comparing head circumference (often called occipitofrontal
Orbitofrontal cortex
The orbitofrontal cortex is a prefrontal cortex region in the frontal lobes in the brain which is involved in the cognitive processing of decision-making...

 circumference, or OFC) to appropriate OFC growth charts. Other structural impairments must be observed through medical imaging
Medical imaging
Medical imaging is the technique and process used to create images of the human body for clinical purposes or medical science...

 techniques by a trained physician. Because imaging procedures are expensive and relatively inaccessible to most patients, diagnosis of FASD is not frequently made via structural impairments except for microcephaly.

Neurological

When structural impairments are not observable or do not exist, neurological impairments are assessed. In the context of FASD, neurological impairments
Neurology
Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...

 are caused by prenatal alcohol exposure which causes general neurological damage to the central nervous system
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...

 (CNS), the peripheral nervous system
Peripheral nervous system
The peripheral nervous system consists of the nerves and ganglia outside of the brain and spinal cord. The main function of the PNS is to connect the central nervous system to the limbs and organs. Unlike the CNS, the PNS is not protected by the bone of spine and skull, or by the blood–brain...

, or the autonomic nervous system
Autonomic nervous system
The autonomic nervous system is the part of the peripheral nervous system that acts as a control system functioning largely below the level of consciousness, and controls visceral functions. The ANS affects heart rate, digestion, respiration rate, salivation, perspiration, diameter of the pupils,...

. A determination of a neurological problem must be made by a trained physician, and must not be due to a postnatal insult, such as a high fever
Fever
Fever is a common medical sign characterized by an elevation of temperature above the normal range of due to an increase in the body temperature regulatory set-point. This increase in set-point triggers increased muscle tone and shivering.As a person's temperature increases, there is, in...

, concussion, traumatic brain injury
Traumatic brain injury
Traumatic brain injury , also known as intracranial injury, occurs when an external force traumatically injures the brain. TBI can be classified based on severity, mechanism , or other features...

, etc.

All four diagnostic systems show virtual agreement on their criteria for CNS damage at the neurological level, and evidence of a CNS neurological impairment due to prenatal alcohol exposure will result in a diagnosis of FAS or PFAS, and functional impairments are highly likely.

Neurological problems are expressed as either hard signs, or diagnosable disorders, such as epilepsy
Epilepsy
Epilepsy is a common chronic neurological disorder characterized by seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or hypersynchronous neuronal activity in the brain.About 50 million people worldwide have epilepsy, and nearly two out of every three new cases...

 or other seizure disorders, or soft signs. Soft signs are broader, nonspecific neurological impairments, or symptoms, such as impaired fine motor skills, neurosensory hearing loss, poor gait
Gait
Gait is the pattern of movement of the limbs of animals, including humans, during locomotion over a solid substrate. Most animals use a variety of gaits, selecting gait based on speed, terrain, the need to maneuver, and energetic efficiency...

, clumsiness
Dyspraxia
Developmental dyspraxia is a motor learning difficulty that can affect planning of movements and co-ordination as a result of brain messages not being accurately transmitted to the body...

, poor eye–hand coordination
Eye–hand coordination
Eye–hand coordination is the coordinated control of eye movement with hand movement, and the processing of visual input to guide reaching and grasping along with the use of proprioception of the hands to guide the eyes. In simple terms, eye-hand coordination involves the coordinated vision and...

, or sensory integration dysfunction
Sensory Integration Dysfunction
Sensory integration dysfunction is a neurological disorder characterized by a neurological sensory integration deficit. The more current diagnostic nosology uses the term sensory processing disorder to describe this condition....

. Many soft signs have norm-referenced criteria
Norm-referenced test
A norm-referenced test is a type of test, assessment, or evaluation which yields an estimate of the position of the tested individual in a predefined population, with respect to the trait being measured. This estimate is derived from the analysis of test scores and possibly other relevant data...

, while others are determined through clinical judgment.

Functional

When structural or neurological impairments are not observed, all four diagnostic systems allow CNS damage due to prenatal alcohol exposure to be assessed in terms of functional impairments. Functional impairments are deficits, problems, delays, or abnormalities due to prenatal alcohol exposure (rather than hereditary causes or postnatal insults) in observable and measurable domains related to daily functioning, often referred to as developmental disabilities. There is no consensus on a specific pattern of functional impairments due to prenatal alcohol exposure and only CDC guidelines label developmental delays as such, so criteria (and FASD diagnoses) vary somewhat across diagnostic systems.

The four diagnostic systems list various CNS domains that can qualify for functional impairment that can determine an FASD diagnosis:
  • Evidence of a complex pattern of behavior or cognitive abnormalities inconsistent with developmental level in the following CNS domains – Sufficient for a PFAS or ARND diagnosis using IOM guidelines
    • Learning disabilities
      Learning disability
      Learning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...

      , academic achievement, impulse control
      Deferred gratification
      Deferred gratification and delayed gratification denote a person’s ability to wait in order to obtain something that he or she wants. This intellectual attribute is also called impulse control, will power, self control, and “low” time preference, in economics...

      , social perception
      Social learning (social pedagogy)
      Social learning is learning that takes place at a wider scale than individual or group learning, up to a societal scale, through social interaction between peers. It may or may not lead to a change in attitudes and behaviour...

      , communication
      Communication
      Communication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...

      , abstraction
      Abstraction
      Abstraction is a process by which higher concepts are derived from the usage and classification of literal concepts, first principles, or other methods....

      , math skills, memory
      Memory
      In psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....

      , attention
      Attention
      Attention is the cognitive process of paying attention to one aspect of the environment while ignoring others. Attention is one of the most intensely studied topics within psychology and cognitive neuroscience....

      , judgment
  • Performance at two or more standard deviation
    Standard deviation
    Standard deviation is a widely used measure of variability or diversity used in statistics and probability theory. It shows how much variation or "dispersion" there is from the average...

    s on standardized testing in three or more of the following CNS domains – Sufficient for an FAS, PFAS or static encephalopathy diagnosis using 4-Digit Diagnostic Code
    • Executive functioning, memory
      Memory
      In psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....

      , cognition
      Cognition
      In science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...

      , social/adaptive skills
      Adaptive behavior
      Adaptive behavior is a type of behavior that is used to adjust to another type of behavior or situation. This is often characterized by a kind of behavior that allows an individual to change an unconstructive or disruptive behavior to something more constructive. These behaviors are most often...

      , academic achievement, language
      Communication
      Communication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...

      , motor skill
      Motor skill
      A motor skill is a learned sequence of movements that combine to produce a smooth, efficient action in order to master a particular task. The development of motor skill occurs in the motor cortex, the region of the cerebral cortex that controls voluntary muscle groups.- Development of motor skills...

      s, attention
      Attention
      Attention is the cognitive process of paying attention to one aspect of the environment while ignoring others. Attention is one of the most intensely studied topics within psychology and cognitive neuroscience....

      , activity level
  • General cognitive deficits (e.g., IQ) at or below the 3rd percentile on standardized testing – Sufficient for an FAS diagnosis using CDC guidelines
  • Performance at or below the 16th percentile on standardized testing in three or more of the following CNS domains – Sufficient for an FAS diagnosis using CDC guidelines
    • Cognition
      Cognition
      In science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...

      , executive functioning, motor functioning
      Motor skill
      A motor skill is a learned sequence of movements that combine to produce a smooth, efficient action in order to master a particular task. The development of motor skill occurs in the motor cortex, the region of the cerebral cortex that controls voluntary muscle groups.- Development of motor skills...

      , attention and hyperactive problems, social skills
      Social skills
      A social skill is any skill facilitating interaction and communication with others. Social rules and relations are created, communicated, and changed in verbal and nonverbal ways. The process of learning such skills is called socialization...

      , sensory integration dysfunction
      Sensory Integration Dysfunction
      Sensory integration dysfunction is a neurological disorder characterized by a neurological sensory integration deficit. The more current diagnostic nosology uses the term sensory processing disorder to describe this condition....

      , social communication
      Communication
      Communication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...

      , memory
      Memory
      In psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....

      , difficulties responding to common parenting
      Parenting
      Parenting is the process of promoting and supporting the physical, emotional, social, and intellectual development of a child from infancy to adulthood...

       practices
  • Performance at two or more standard deviation
    Standard deviation
    Standard deviation is a widely used measure of variability or diversity used in statistics and probability theory. It shows how much variation or "dispersion" there is from the average...

    s on standardized testing in three or more of the following CNS domains – Sufficient for an FAS diagnosis using Canadian guidelines
    • Cognition
      Cognition
      In science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...

      , communication
      Communication
      Communication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...

      , academic achievement, memory
      Memory
      In psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....

      , executive functioning, adaptive behavior
      Adaptive behavior
      Adaptive behavior is a type of behavior that is used to adjust to another type of behavior or situation. This is often characterized by a kind of behavior that allows an individual to change an unconstructive or disruptive behavior to something more constructive. These behaviors are most often...

      , social skills
      Social skills
      A social skill is any skill facilitating interaction and communication with others. Social rules and relations are created, communicated, and changed in verbal and nonverbal ways. The process of learning such skills is called socialization...

      , social communication
      Communication
      Communication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...


Ten Brain Domains

A recent effort to standardize assessment of functional CNS damage has been suggested by an experienced FASD diagnostic team in Minnesota. The proposed framework attempts to harmonize IOM, 4-Digit Diagnostic Code, CDC, and Canadian guidelines for measuring CNS damage viz-a-viz FASD evaluations and diagnosis. The standardized approach is referred to as the Ten Brain Domains and encompasses aspects of all four diagnostic systems' recommendations for assessing CNS damage due to prenatal alcohol exposure. The framework provides clear definitions of brain dysfunction, specifies empirical data needed for accurate diagnosis, and defines intervention considerations that address the complex nature of FASD with the intention to avoid common secondary disabilities.

The proposed Ten Brain Domains include:
  • Achievement
    Outcome-based education
    Outcome-based education is a recurring education reform model. It is a student-centered learning philosophy that focuses on empirically measuring student performance, which are called outcomes. OBE contrasts with traditional education, which primarily focuses on the resources that are available...

    , adaptive behavior
    Adaptive behavior
    Adaptive behavior is a type of behavior that is used to adjust to another type of behavior or situation. This is often characterized by a kind of behavior that allows an individual to change an unconstructive or disruptive behavior to something more constructive. These behaviors are most often...

    , attention
    Attention
    Attention is the cognitive process of paying attention to one aspect of the environment while ignoring others. Attention is one of the most intensely studied topics within psychology and cognitive neuroscience....

    , cognition
    Cognition
    In science, cognition refers to mental processes. These processes include attention, remembering, producing and understanding language, solving problems, and making decisions. Cognition is studied in various disciplines such as psychology, philosophy, linguistics, and computer science...

    , executive functioning, language
    Language
    Language may refer either to the specifically human capacity for acquiring and using complex systems of communication, or to a specific instance of such a system of complex communication...

    , memory
    Memory
    In psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....

    , motor skills, sensory integration
    Sensory integration
    Sensory integration is defined as the neurological process that organizes sensation from one’s own body and the environment, thus making it possible to use the body effectively within the environment. Specifically, it deals with how the brain processes multiple sensory modality inputs into usable...

     or soft neurological
    Neurology
    Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...

     problems, social communication
    Communication
    Communication is the activity of conveying meaningful information. Communication requires a sender, a message, and an intended recipient, although the receiver need not be present or aware of the sender's intent to communicate at the time of communication; thus communication can occur across vast...



The Fetal Alcohol Diagnostic Program (FADP) uses unpublished Minnesota state criteria of performance at 1.5 or more standard deviation
Standard deviation
Standard deviation is a widely used measure of variability or diversity used in statistics and probability theory. It shows how much variation or "dispersion" there is from the average...

s on standardized testing in three or more of the Ten Brain Domains to determine CNS damage. However, the Ten Brain Domains are easily incorporated into any of the four diagnostic systems' CNS damage criteria, as the framework only proposes the domains, rather than the cut-off criteria for FASD.

Prenatal alcohol exposure

Prenatal alcohol exposure is determined by interview of the biological mother or other family members knowledgeable of the mother's alcohol use during the pregnancy (if available), prenatal health records (if available), and review of available birth records, court records (if applicable), chemical dependency treatment
Drug rehabilitation
Drug rehabilitation is a term for the processes of medical or psychotherapeutic treatment, for dependency on psychoactive substances such as alcohol, prescription drugs, and so-called street drugs such as cocaine, heroin or amphetamines...

 records (if applicable), or other reliable sources.

Exposure level is assessed as Confirmed Exposure, Unknown Exposure, and Confirmed Absence of Exposure by the IOM, CDC and Canadian diagnostic systems. The "4-Digit Diagnostic Code" further distinguishes confirmed exposure as High Risk and Some Risk:
  • High Risk – Confirmed use of alcohol during pregnancy known to be at high blood alcohol levels
    Blood alcohol content
    Blood alcohol content , also called blood alcohol concentration, blood ethanol concentration, or blood alcohol level is most commonly used as a metric of alcohol intoxication for legal or medical purposes....

     (100 mg/dL or greater) delivered at least weekly in early pregnancy.
  • Some Risk – Confirmed use of alcohol during pregnancy with use less than High Risk or unknown usage patterns.
  • Unknown Risk – Unknown use of alcohol during pregnancy.
  • No Risk – Confirmed absence of prenatal alcohol exposure.

Confirmed exposure

Amount, frequency, and timing of prenatal alcohol use can dramatically impact the other three key features of FASD. While consensus exists that alcohol is a teratogen, there is no clear consensus as to what level of exposure is toxic. The CDC guidelines are silent on these elements diagnostically. The IOM and Canadian guidelines explore this further, acknowledging the importance of significant alcohol exposure from regular or heavy episodic alcohol consumption in determining, but offer no standard for diagnosis. Canadian guidelines discuss this lack of clarity and parenthetically point out that "heavy alcohol use" is defined by the National Institute on Alcohol Abuse and Alcoholism
National Institute on Alcohol Abuse and Alcoholism
The National Institute on Alcohol Abuse and Alcoholism , as part of the U.S. National Institutes of Health, supports and conducts biomedical and behavioral research on the causes, consequences, treatment, and prevention of alcoholism and alcohol-related problems...

 as five or more drinks per episode on five or more days during a 30 day period.

"The 4-Digit Diagnostic Code" ranking system distinguishes between levels of prenatal alcohol exposure as High Risk and Some Risk. It operationalizes high risk exposure as a blood alcohol concentration
Blood alcohol content
Blood alcohol content , also called blood alcohol concentration, blood ethanol concentration, or blood alcohol level is most commonly used as a metric of alcohol intoxication for legal or medical purposes....

 (BAC) greater than 100 mg/dL delivered at least weekly in early pregnancy. This BAC level is typically reached by a 55 kg female drinking six to eight beers in one sitting.

Unknown exposure

For many adopted or adult patients and children in foster care, records or other reliable sources may not be available for review. Reporting alcohol use during pregnancy can also be stigmatizing to birth mothers, especially if alcohol use is ongoing. In these cases, all diagnostic systems use an unknown prenatal alcohol exposure designation. A diagnosis of FAS is still possible with an unknown exposure level if other key features of FASD are present at clinical levels.

Confirmed absence of exposure

Confirmed absence of exposure would apply to planned pregnancies in which no alcohol was used or pregnancies of women who do not use alcohol or report no use during the pregnancy. This designation is relatively rare, as most patients presenting for an FASD evaluation are at least suspected to have had a prenatal alcohol exposure due to presence of other key features of FASD.

Diagnosis

While the four diagnostic systems essentially agree on criteria for Fetal Alcohol Syndrome (FAS), there are still differences when full criteria for FAS are not met. This has resulted in differing and evolving nomenclature for other conditions across the spectrum of FASD, which may account for such a wide variety of terminology. Most individuals with deficits resulting from prenatal alcohol exposure do not express all features of FAS and fall into other FASD conditions. The Canadian guidelines recommend the assessment and descriptive approach of the "4-Digit Diagnostic Code" for each key feature of FASD and the terminology of the IOM in diagnostic categories, excepting ARBD.

Fetal Alcohol Syndrome
Fetal alcohol syndrome
Fetal alcohol syndrome is a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy. Current research also implicates other lifestyle choices made by the prospective mother...

 or FAS is the only expression of FASD that has garnered consensus among experts to become an official ICD-9 and ICD-10
ICD-10
The International Statistical Classification of Diseases and Related Health Problems, 10th Revision is a medical classification list for the coding of diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases, as maintained by the...

 diagnosis. To make this diagnosis or determine any FASD condition, a multi-disciplinary
Interdisciplinarity
Interdisciplinarity involves the combining of two or more academic fields into one single discipline. An interdisciplinary field crosses traditional boundaries between academic disciplines or schools of thought, as new needs and professions have emerged....

 evaluation is necessary to assess each of the four key features for assessment. Generally, a trained physician
Physician
A physician is a health care provider who practices the profession of medicine, which is concerned with promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments...

 will determine growth deficiency and FAS facial features. While a qualified physician may also assess central nervous system structural abnormalities and/or neurological problems, usually central nervous system damage is determined through psychological
Psychological testing
Psychological testing is a field characterized by the use of samples of behavior in order to assess psychological construct, such as cognitive and emotional functioning, about a given individual. The technical term for the science behind psychological testing is psychometrics...

, speech-language, and occupational therapy
Occupational therapy
Occupational therapy is a discipline that aims to promote health by enabling people to perform meaningful and purposeful activities. Occupational therapists work with individuals who suffer from a mentally, physically, developmentally, and/or emotionally disabling condition by utilizing treatments...

 assessments to ascertain clinically significant impairments in three or more of the Ten Brain Domains. Prenatal alcohol exposure risk may be assessed by a qualified physician, psychologist
Psychologist
Psychologist is a professional or academic title used by individuals who are either:* Clinical professionals who work with patients in a variety of therapeutic contexts .* Scientists conducting psychological research or teaching psychology in a college...

, social work
Social work
Social Work is a professional and academic discipline that seeks to improve the quality of life and wellbeing of an individual, group, or community by intervening through research, policy, community organizing, direct practice, and teaching on behalf of those afflicted with poverty or any real or...

er, or chemical health counselor. These professionals work together as a team to assess and interpret data of each key feature for assessment and develop an integrative, multi-disciplinary report to diagnose FAS (or other FASD conditions) in an individual.

Other FASD diagnoses

Other FASD conditions are partial expressions of FAS, and here the terminology shows less consensus across diagnostic systems, which has led to some confusion for clinicians and patients. A key point to remember is that other FASD conditions may create disabilities similar to FAS if the key area of central nervous system damage shows clinical deficits in two or more of the Ten Brain Domains. Essentially, growth deficiency and/or FAS facial features may be mild or nonexistent in other FASD conditions, but clinically significant brain damage of the central nervous system is present. In these other FASD conditions, an individual may be at greater risk for adverse outcomes because brain damage is present without associated visual cues of poor growth or the "FAS face" that might ordinarily trigger an FASD evaluation. Such individuals may be misdiagnosed with primary mental health disorders
DSM-IV Codes
Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision, also known as DSM-IV-TR, is a manual published by the American Psychiatric Association that includes all currently recognized mental health disorders...

 such as ADHD
Attention-deficit hyperactivity disorder
Attention deficit hyperactivity disorder is a developmental disorder. It is primarily characterized by "the co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age.ADHD is the most commonly studied and...

 or Oppositional Defiance Disorder without appreciation that brain damage is the underlying cause of these disorders, which requires a different treatment paradigm than typical mental health disorders. While other FASD conditions may not yet be included as an ICD
ICD
The International Statistical Classification of Diseases and Related Health Problems is a medical classification that provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease...

 or DSM-IV-TR
Diagnostic and Statistical Manual of Mental Disorders
The Diagnostic and Statistical Manual of Mental Disorders is published by the American Psychiatric Association and provides a common language and standard criteria for the classification of mental disorders...

 diagnosis, they nonetheless pose significant impairment in functional behavior
Adaptive behavior
Adaptive behavior is a type of behavior that is used to adjust to another type of behavior or situation. This is often characterized by a kind of behavior that allows an individual to change an unconstructive or disruptive behavior to something more constructive. These behaviors are most often...

 because of underlying brain damage.

Partial FAS (PFAS)

Previously known as Atypical FAS in the 1997 edition of the "4-Digit Diagnostic Code," patients with Partial Fetal Alcohol Syndrome have a confirmed history of prenatal alcohol exposure, but may lack growth deficiency or the complete facial stigmata. Central nervous system damage is present at the same level as FAS. These individuals have the same functional disabilities but "look" less like FAS.

The following criteria must be fully met for a diagnosis of Partial FAS:
  1. Growth deficiency – Growth or height may range from normal to deficient
  2. FAS facial features – Two or three FAS facial features present
  3. Central nervous system damage – Clinically significant structural, neurological, or functional impairment in three or more of the Ten Brain Domains
  4. Prenatal alcohol exposure – Confirmed prenatal alcohol exposure

Alcohol-Related Neurodevelopmental Disorder (ARND)

Alcohol-Related Neurodevelopmental Disorder (ARND) was initially suggested by the Institute of Medicine to replace the term FAE and focus on central nervous system damage, rather than growth deficiency or FAS facial features. The Canadian guidelines also use this diagnosis and the same criteria. While the "4-Digit Diagnostic Code" includes these criteria for three of its diagnostic categories, it refers to this condition as static encephalopathy
Encephalopathy
Encephalopathy means disorder or disease of the brain. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of global brain dysfunction; this syndrome can be caused by many different illnesses.-Terminology:...

. The behavioral effects of ARND are not necessarily unique to alcohol however, so use of the term must be within the context of confirmed prenatal alcohol exposure. ARND may be gaining acceptance over the terms FAE and ARBD to describe FASD conditions with central nervous system abnormalities or behavioral or cognitive abnormalities or both due to prenatal alcohol exposure without regard to growth deficiency or FAS facial features.

The following criteria must be fully met for a diagnosis of ARND or static encephalopathy:
  1. Growth deficiency – Growth or height may range from normal to minimally deficient
  2. FAS facial features – Minimal or no FAS facial features present
  3. Central nervous system damage – Clinically significant structural, neurological, or functional impairment in three or more of the Ten Brain Domains
  4. Prenatal alcohol exposure – Confirmed prenatal alcohol exposure

Fetal Alcohol Effects (FAE)

This term was initially used in research studies to describe humans and animals in whom teratogenic effects were seen after confirmed prenatal alcohol exposure (or unknown exposure for humans), but without obvious physical anomalies. Smith (1981) described FAE as an "extremely important concept" to highlight the debilitating effects of brain damage, regardless of the growth or facial features. This term has fallen out of favor with clinicians because it was often regarded by the public as a less severe disability than FAS, when in fact its effects can be just as detrimental.

Alcohol-Related Birth Defects (ARBD)

Formerly known as Possible Fetal Alcohol Effect (PFAE), Alcohol-Related Birth Defects (ARBD) was a term proposed as an alternative to FAE and PFAE The IOM presents ARBD as a list of congenital anomalies that are linked to maternal alcohol use but have no key features of FASD. PFAE and ARBD have fallen out of favor because these anomalies are not necessarily specific to maternal alcohol consumption and are not criteria for diagnosis of FASD. The Canadian guidelines recommend that ARBD should not be used as an umbrella term or diagnostic category for FASD

External links

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