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==Overview==
==Overview==
'''Fetal alcohol syndrome''' (FAS) is a disorder of permanent [[birth defect]]s that occurs in the offspring of women who drink [[alcohol]] during pregnancy. It is unknown whether amount, frequency or timing of alcohol consumption during pregnancy causes a difference in degree of damage done to the fetus. Thus, although prenatal alcohol exposure does not automatically result in FAS, the current recommendation is not to drink at all during pregnancy. Alcohol crosses the placental barrier and can stunt [[prenatal development|fetal growth]] or [[birth weight|weight]], create distinctive facial stigmata, damage [[neuron]]s and [[list of regions in the human brain|brain structures]], and cause other physical, mental, or behavioral problems.
Fetal alcohol spectrum disorders (FASDs) are a group of disorders that encompass fetal alcohol syndrome (FAS), partial fetal alcohol syndrome, alcohol-related birth defects (ARBD), alcohol-related neurodevelopmental disorder (ARND), and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). The most potent risk factor for FASD's include prenatal exposure to alcohol. FASD's is the leading preventable cause of birth defects and intellectual and neurodevelopmental disabilities in children. Early recognition, diagnosis, and therapy for FASD is associated with improved outcomes.
Surveys found that in the United States, 10-15% of pregnant women admit to having recently used alcohol, and up to 30% use alcohol at some point during pregnancy.
The main effect of FAS is permanent [[Brain damage|central nervous system damage]], especially to the [[brain]].  Developing [[brain cell]]s and structures are underdeveloped or malformed by prenatal alcohol exposure, often creating an array of primary [[cognitive]] and functional disabilities (including poor [[memory]], [[ADHD|attention deficits]], impulsive behavior, and poor cause-effect reasoning) as well as secondary disabilities (for example, [[mental illness|mental health problems]], and drug [[addiction]]). The risk of brain damage exists during each [[trimester]], since the fetal brain develops throughout the entire pregnancy. Fetal alcohol exposure is the leading known cause of [[mental retardation]] in the Western world. In the [[United States]] the FAS prevalence rate is estimated to be between 0.2 and 2.0 cases per 1,000 live births, comparable to or higher than other [[developmental disabilities]] such as [[Down syndrome]] or [[spina bifida]]. The lifetime medical and [[social cost]]s of each child with FAS are estimated to be as high as US$800,000.<ref name="FASGuide" /><ref name="CDC" />
 
==History==
==History==
===Historical references===
* In 1899. Dr William Sullivan, a Liverpool prison physician was the first to report a case study describing an association between maternal alcohol use and fetal damage in female prisoners.<ref name="FASGuide" />
Anecdotal accounts of prohibitions against maternal alcohol use from biblical, ancient Greek, and ancient Roman sources imply a historical awareness of links between maternal alcohol use and negative child outcomes.  
* In 1968, Fetal alcohol syndrome was discovered and separated as a entire new diseases at the University of Washington’s Harborview Medical Center in Washington.
* By 1973, sufficient research evidence had accrued to devise basic diagnostic criteria such that FAS became established as a diagnostic entity.<ref name="foreword" /><ref name="IOM" />
* In 1973, Dr keneth Lyons Jones and David W Smith professors of University of Washington Medical School in Seattle was the first to introduce the term Fetal alcohol syndrome.<ref name="Jonesetal1973" />
* By 1978, 245 cases of FAS had been reported by medical researchers, and the syndrome began to be described as the most frequent known cause of [[mental retardation]].
* In 1981, The US Surgeon General issued the first public health advisory that alcohol during pregnancy is responsible birth defects.
* In 1989, US Congress mandated warning labels about potential birth defects on alcohol products.


The earliest known observation of possible links between maternal alcohol use and fetal damage was made in 1899 by Dr. William Sullivan, a Liverpool prison physician who noted higher rates of [[stillbirth]] for 120 alcoholic female prisoners than their sober female relatives; he suggested the causal agent to be alcohol use. This contradicted the predominating belief at the time that heredity caused mental retardation, poverty, and criminal behavior, which contemporary studies on the subjects usually concluded.<ref name="FASGuide" /> A case study by [[Henry H. Goddard]] of the Kallikak family &mdash; popular in the early 1900s &mdash; represents this earlier perspective, though later researchers have suggested that the Kallikaks almost certainly had FAS. General studies and discussions on alcoholism throughout the mid-1900s were typically based on a heredity argument.
== Classification ==
According to American Academy of Pediatrics fetal alcohol spectrum disorders (FASDs)  encompasses group of disorders based upon the manifestations into 5 sub types.
* Fetal alcohol syndrome (FAS)
* Partial fetal alcohol syndrome
* Alcohol-related birth defects (ARBD)
* Alcohol-related neurodevelopmental disorder (ARND)
* Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE).


Prior to fetal alcohol syndrome being specifically identified and named in 1973, a few studies had noted differences between the children of mothers who used alcohol during [[pregnancy]] or [[breast-feeding]] and those who did not, but identified alcohol use as a possible contributing factor rather than heredity.<ref name="FASGuide" />
{{familytree/start}}
{{familytree | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | A01=Fetal alcohol spectrum disorders}}
{{familytree | | | | | | | | | | | | | | | | |!| | | | | | | | |}}
{{familytree | | | | |,|-|-|-|-|-|v|-|-|-|-|-|+|-|-|-|-|-|-|v|-|-|-|-|-|.| | }}
{{familytree | | | | |!| | | | | |!| | | | | |!| | | | | | |!| | | | | |!| | | }}
{{familytree | | | | C01 | | | | C02 | | | | C03 | | | | | C04 | | | | C05 | | | | |C01=Fetal alcohol syndrome (FAS)|C02=Partial fetal alcohol syndrome|C03=Alcohol-related birth defects (ARBD)|C04= Alcohol-related neurodevelopmental disorder (ARND)|C05=Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE)}}
{{familytree | | | | |!| | | | | |!| | | | | |!| | | | | | |!| | | | | |!| | | | |}}
{{familytree | | | | D01 | | | | D02 | | | | D03 | | | | | D04 | | | | D05 | | | | |D01='''A'''▪ Confirmed maternal alcohol exposure.<br>'''B'''▪ Evidence of characteristic pattern of facial anomalies<br>'''C'''▪ Evidence of growth retardation<br>'''D'''▪ Evidence of CNS abnormalities|D02= '''A''', '''B''', '''C''', '''D''' and <br>'''E'''▪ Evidence of a complex pattern of behavior or cognitive abnormalities|D03=▪ Cardiac<br>▪ Skeletal<br>▪ Renal<br>▪ Ocular<br>▪ Auditory<br>▪ Other|D04= '''A''','''B''', '''D''', and '''E''' <br> ▪ No growth retardation|D05= Behavioral abnormalities predominant with no growth retardation}}
 


===Recognition as a syndrome===
{{familytree/end}}
Fetal Alcohol Syndrome was named in 1973 by two dysmorphologists, Drs. Kenneth Lyons Jones and David W. Smith of the University of Washington Medical School in Seattle, United States. They identified a pattern of "craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay" in eight unrelated children of three ethnic groups, all born to mothers who were [[alcoholic]]s.<ref name="Jonesetal1973" /> The pattern of malformations indicated that the damage was prenatal. News of the discovery shocked some, while others were skeptical of the findings.


Dr. Paul Lemoine of Nantes, France had already published a study in a French medical journal in 1968 about children with distinctive features whose mothers were alcoholics,<ref name="Lemoine" /> and in the U.S., Christy Ulleland and colleagues at the University of Washington Medical School<ref name="Ulleland1972" /> had conducted an 18-month study in 1968-1969 documenting the risk of maternal alcohol consumption among the offspring of 11 alcoholic mothers. The Washington and Nantes findings were confirmed by a research group in Gothenburg, Sweden in 1979. Researchers in France, Sweden, and the United States were struck by how similar these children looked, though they were not related, and how they behaved in the same unfocused and [[hyperactive]] manner.<ref name="Olegard" />
== Pathophysiology ==
* Drinking alcohol during pregnancy is the most potent etiological factor for the development of fetal alcohol syndrome disorders.
* The developing embryo is susceptible to dysmorphogenisis during the first few weeks of pregnancy.
* Alcohol can pass through umbilical cord to the baby effecting morphogeneisis leading to
** [[Miscarriage]]
** [[Stillbirth]]
** Behavioral, and intellectual disabilities


Within four years of the Washington discovery, animal studies, including non-human primate studies carried out at the University of Washington Primate Center by Dr. Sterling Clarren, had confirmed that alcohol was a [[Teratogenesis|teratogen]]. By 1978, 245 cases of FAS had been reported by medical researchers, and the syndrome began to be described as the most frequent known cause of [[mental retardation]].
== Risk Factors ==
The most potent risk factor in the development of FASD's include prenatal exposure of alcohol. Other risk factors include:
* Alcohol consumption
* Increase in maternal age
* Maternal genotype|
** [[ADH1B]]*1/[[ADH1B]]*3
** [[ADH1B]]*1/[[ADH1B]]*1
* Increase in parity/gravidity
* Higher birth order of the child


While many [[syndrome]]s are [[eponym]]ous, i.e. named after the physician first reporting the association of symptoms, Dr. Smith named FAS after the causal agent of the symptoms. He reasoned that doing so would encourage prevention, believing that if people knew maternal alcohol consumption caused the syndrome, then abstinence during pregnancy would follow from [[health education|patient education]] and public awareness.<ref name="foreword" /> Nobody was aware of the full range of possible birth defects from FAS or its prevalence rate at that time,<ref name="foreword" /> but admission of alcohol use during pregnancy can feel stigmatizing to birth mothers and complicate diagnostic efforts<ref name="CDC" /> of a syndrome with its preventable cause in the name.
* Low socioeconomic status


Over time, as subsequent research and clinical experience suggested that a range of effects (including physical, behavioral, and cognitive) could arise from prenatal alcohol exposure, the term [[Fetal Alcohol Spectrum Disorder]] (FASD) was developed to include FAS as well as other conditions resulting from prenatal alcohol exposure.<ref name="foreword" />  Currently, FAS<ref name="IOM" /> is the only expression of prenatal alcohol exposure defined by the [[ICD|International Statistical Classification of Diseases and Related Health Problems]] and assigned [[ICD-9]] and [[ICD-10]] diagnoses.
== Epidemiology and Demographics ==


== Classification ==
=== Prevalence ===
According to American Academy of Pediatrics Fetal alcohol spectrum disorders (FASDs)  encompasses group of disorders depending upon the manifestations such as
* According to '''National Institute on Alcohol Abuse and Alcoholism study, CDC and AAP''' it is estimated that FASD's is prevalent in 2-5% of children in the United States.
* Fetal alcohol syndrome (FAS)
* CDC released a fact sheet in 2016, according to which prevalence of  fetal alcohol syndrome is believed to be 1 in 20 children.
* Partial fetal alcohol syndrome
* Comprehensive data on the number of individuals with an FASD in the general population of the Unites States, or by state, race or ethnicity, is currently not available.
* Alcohol-related birth defects (ARBD)
* ''Journal of the American Medical Association'' published '''the results of a National Institute on Alcohol Abuse and Alcoholism study''' that measured the prevalence of fetal alcohol spectrum disorders (FASD) among first-grade students in four US communities. 
* Alcohol-related neurodevelopmental disorder (ARND)
** Over 6,500 children were evaluated and the most conservative estimate for FASD ranged from 1 to 5 percent, or 1 in 20 students. 
* Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE).
* '''Data from the Centers for Disease Control and Prevention (CDC)'''  asserts that 10 percent of pregnant women report drinking alcohol and 3 percent report binge drinking, putting over 100,000 births in the US each year at high risk for FASD.
[[File:Alcohol.png|center|frame|Source: CDC]]


==Differential Diagnosis==
Fetal alcohol syndrome must be differentiated from other genetic diseases, with similar manifestations such as smooth philtrum, thin vermillion border and  small palpebral fissures. American academy of pediatrics and CDC reviewed and recommended 9 genetic diseases that has to screened and differentiated from FAD's which include [[Aarskog syndrome]], [[Williams syndrome]], [[Noonan syndrome]], [[Dubowitz syndrome]], [[Cornelia de Lange syndrome|Brachman-DeLange syndrome]], [[Toluene (toxicology)|Toluene syndrome,]] [[Fetal hydantoin syndrome|Fetal hydantoin syndrome,]] [[Neural tube defects|Fetal valproate syndrome]], and Maternal [[Phenylketonuria|PKU]] fetal effects.


{{familytree/start}}
{| border="1" cellpadding="5" cellspacing="0" align="center" |class="wikitable"
{{familytree | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | A01=Fetal alcohol spectrum disorders}}
! style="background:#4479BA; color: #FFFFFF;" |Syndrome
{{familytree | | | | | | | | | | | | | | | | | |!| | | | | | | | |}}
! style="background:#4479BA; color: #FFFFFF;" |Overlapping features
{{familytree | | | | | |,|-|-|-|-|-|v|-|-|-|-|-|+|-|-|-|-|-|-|v|-|-|-|-|-|.| | }}
! style="background:#4479BA; color: #FFFFFF;" |'''Differentiating features'''
{{familytree | | | | | |!| | | | | |!| | | | | |!| | | | | | |!| | | | | |!| | | }}
|-
{{familytree | | | | | C01 | | | | C02 | | | | C03 | | | | | C04 | | | | C05 | | | | |C01=Fetal alcohol syndrome (FAS)|C02=Partial fetal alcohol syndrome|C03=Alcohol-related birth defects (ARBD)|C04= Alcohol-related neurodevelopmental disorder (ARND)|C05=Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE)}}
|Aarskog syndrome
{{familytree/end}}
|
* Small nose with anteverted nares
* Broad philtrum
* Maxillary hypoplasia
* Wide-spaced eyes
|
* Rounded face
* Down-slant to palpebral fissures
* Widow's peak
* Crease below lower lip
* Incomplete out folding of upper helices
* Dental eruption problems
|-
|Williams syndrome
|
* Short palpebral fissures
* Anteverted nares
* Long philtrum
* Depressed nasal bridge
* Epicanthal folds
|
* Wide mouth with full lips
* Stellate pattern of the iris
* Periorbital fullness
* Connective tissue disorders
|-
|Noonan syndrome
|
* Low nasal bridge
* Wide-spaced eyes
* Epicanthal folds
|
* Down-slant to palpebral fissures
* Keratoconus
* Wide mouth
* Protruding upper lip
|-
|Dubowitz syndrome
|
* Short palpebral fissures
* Wide-spaced eyes
* Epicanthal folds
|
* Shallow supraorbital ridge with nasal bridge near the level of the forehead
* Broad nasal tip
|-
|[[Cornelia de Lange syndrome|Brachman-DeLange syndrome]]
|
* Long philtrum
* Thin vermillion border
* Anteverted nares
* Depressed nasal bridge
|
* Single, bushy eyebrow extending across forehead
* Long eyelashe
* Downturned mouth
* High-arched palate,
* Short limbs
|-
|[[Toluene (toxicology)|Toluene syndrome]]
|
* Short palpebral fissures
* Mid-face hypoplasia
* Smooth philtrum
* Thin vermillion border
|
* Micrognathia
* Large anterior fontanel
* Down-turned mouth corners
* Hair patterning abnormalities
* Bifrontal narrowing
* Ear abnormalities
|-
|[[Fetal hydantoin syndrome]]
|
* Wide-spaced eyes
* Depressed nasal bridge
|
* Short nose with bowed upper lip
|-
|[[Neural tube defects|Fetal valproate syndrome]]
|
* Epicanthal folds
* Anteverted nares
* Long philtrum with thin vermilion border
* Wide-spaced eyes
|
* High forehead
* Infraorbital crease or groove
* Small mouth
|-
|Maternal [[Phenylketonuria|PKU]] fetal effects
|
* Epicanthal folds
* Short palpebral fissures
* Long underdeveloped philtrum
* Thin vermillion border
|
* Small upturned nose
* Round facies
* Prominent glabella
|}
The following tables summarizes the differential diagnosis of individual features associated with FAS


==Differential diagnosis==
{| border="1" cellpadding="5" cellspacing="0" align="center" |class="wikitable"
The CDC reviewed nine [[syndromes]] that have overlapping features with FAS; however, none of these syndromes include all three FAS facial features, and none are the result of prenatal alcohol exposure:<ref name="CDC" />
|+
*[[Aarskog syndrome]]
! colspan="2" style="background:#4479BA; color: #FFFFFF;" |Differential diagnosis of individual features associated with FAS
*[[Williams syndrome]]
|-
*[[Noonan's syndrome]]
|Smooth philtrum
*[[ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities|Dubowitz syndrome]]
|
*[[Cornelia de Lange syndrome|Brachman-DeLange syndrome]]
* Cornelia de Lange syndrome
*[[Toluene (toxicology)|Toluene syndrome]]
* Floating-Harbor syndrome  
*[[Fetal hydantoin syndrome]]
* Geleophysic dysplasia
*[[Neural tube defects|Fetal valproate syndrome]]
* Opitz syndrome
*Maternal [[Phenylketonuria|PKU]] fetal effects
* Toluene embryopathy
|-
|Thin Vermillion border
|
* Miller-Dieker (Lissencephaly) syndrome
* Fetal Valproate syndrome  
* Geleophysic dysplasia
* Cornelia de Lange syndrome  
* Toluene embryopathy
|-
|Small palpebral fissures
|
* Campomelic dysplasia
* DiGeorge sequence
* Dubowitz syndrome
* Duplication 10q sequence
* Duplication 15q sequence
* FG syndrome  
* Maternal phenylketonuria (PKU) fetal effects
* Oculodentodigital syndrome
* Opitz syndrome
* Trisomy 18 syndrome  
* Williams syndrome  
* Velocardiofacial syndrome  
* Toluene embryopathy
|}


== Diagnosis ==
== Diagnosis ==
FASD is clinical diagnosis and there are no specific diagnostic laboratory findings associated with FASD. However, American Academy of Pediatrics and CDC brought up a diagnostic criteria. <ref name="pmid26668194">{{cite journal |vauthors=Cook JL, Green CR, Lilley CM, Anderson SM, Baldwin ME, Chudley AE, Conry JL, LeBlanc N, Loock CA, Lutke J, Mallon BF, McFarlane AA, Temple VK, Rosales T |title=Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan |journal=CMAJ |volume=188 |issue=3 |pages=191–7 |date=February 2016 |pmid=26668194 |pmc=4754181 |doi=10.1503/cmaj.141593 |url=}}</ref><ref name="pmid27464676">{{cite journal |vauthors=Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA |title=Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders |journal=Pediatrics |volume=138 |issue=2 |pages= |date=August 2016 |pmid=27464676 |pmc=4960726 |doi=10.1542/peds.2015-4256 |url=}}</ref><ref name="pmid10906009">{{cite journal |vauthors=Astley SJ, Clarren SK |title=Diagnosing the full spectrum of fetal alcohol-exposed individuals: introducing the 4-digit diagnostic code |journal=Alcohol Alcohol. |volume=35 |issue=4 |pages=400–10 |date=2000 |pmid=10906009 |doi= |url=}}</ref><ref name="pmid15738468">{{cite journal |vauthors=Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N |title=Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis |journal=CMAJ |volume=172 |issue=5 Suppl |pages=S1–S21 |date=March 2005 |pmid=15738468 |pmc=557121 |doi=10.1503/cmaj.1040302 |url=}}</ref><ref name="pmid15629980">{{cite journal |vauthors=Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, Buckley DG, Miller JH, Aragon AS, Khaole N, Viljoen DL, Jones KL, Robinson LK |title=A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria |journal=Pediatrics |volume=115 |issue=1 |pages=39–47 |date=January 2005 |pmid=15629980 |pmc=1380311 |doi=10.1542/peds.2004-0259 |url=}}</ref><ref name="pmid27677572">{{cite journal |vauthors=Hagan JF, Balachova T, Bertrand J, Chasnoff I, Dang E, Fernandez-Baca D, Kable J, Kosofsky B, Senturias YN, Singh N, Sloane M, Weitzman C, Zubler J |title=Neurobehavioral Disorder Associated With Prenatal Alcohol Exposure |journal=Pediatrics |volume=138 |issue=4 |pages= |date=October 2016 |pmid=27677572 |pmc=5477054 |doi=10.1542/peds.2015-1553 |url=}}</ref><ref name="pmid27677571">{{cite journal |vauthors=Hoyme HE, Coles CD |title=Alcohol-Related Neurobehavioral Disabilities: Need for Further Definition and Common Terminology |journal=Pediatrics |volume=138 |issue=4 |pages= |date=October 2016 |pmid=27677571 |pmc=5051212 |doi=10.1542/peds.2016-1999 |url=}}</ref>
=== Diagnostic criteria for Fetal alcohol spectral disorders ===


=== Diagnostic criteria ===
{| border="1" cellpadding="5" cellspacing="0" align="center" |class="wikitable"
Several diagnostic criteria have been developed in the recent times:
|+
* The [[Institute of Medicine]]'s guidelines for FAS, the first system to standardize diagnoses of individuals with prenatal alcohol exposure,
! colspan="3" style="background:#4479BA; color: #FFFFFF;" |Components of Diagnostic criteria For FASD's
* The University of Washington's "The 4-Digit Diagnostic Code," which ranks the four key features of FASD on a [[Likert scale]] 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 general consensus on the diagnosis FAS in the U.S. but deferred addressing other FASD conditions, and
| colspan="2" |'''Growth deficiency'''
* Canadian guidelines for FASD diagnosis, which established criteria for diagnosing FASD in Canada and harmonized most differences between the IOM and University of Washington's systems.
|
To make this diagnosis (or determine any FASD condition), a multi-disciplinary evaluation is necessary to assess each of the four key features for assessment. Prenatal alcohol exposure risk may be assessed by a qualified physician, [[psychologist]], [[social work]]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.
* Prenatal or postnatal height or weight (or both) at or below the 10th percentile<ref name="growthchart" />
|-
| colspan="2" |'''Facial features'''
|
* Smooth philtrum
* Thin vermillion border
* Small palpebral fissures
|-
| rowspan="4" |'''Central nervous system damage'''
|'''Structural'''
|
* Head circumference (OFC) at or below the 10th percentile adjusted for age and sex.
 
* Clinically significant brain abnormalities observable through imaging.
|-
|'''Neurologica'''l
|Neurological problems not due to:
* Postnatal insult '''or'''
* Fever '''or'''  
* Other soft neurological signs outside normal limits.
|-
| rowspan="2" |'''Functional'''
|Global cognitive or intellectual deficits representing multiple domains of deficit with performance below the 3rd percentile
|-
|Functional deficits below the 16th percentile in at least three of the following domains:
* Cognitive or developmental deficits or discrepancies
* Executive functioning deficits
* Motor functioning delays
* Problems with attention or hyperactivity
* Social skills
* Other, such as sensory problems, pragmatic language problems, memory deficits, etc.
|-
| colspan="2" |'''Maternal  alcohol exposure'''
|
* Confirmed prenatal alcohol exposure
* Unknown prenatal alcohol exposure
|}
'''Diagnostic criteria for Fetal alcohol syndrome'''
 
4 diagnostic criteria had been developed in the recent times to diagnose fetal alcohol syndrome
* Four digit code
* Hoyme- Revised IOM
* Chudley–Canadian
* National Task Force/CDC
{| border="1" cellpadding="5" cellspacing="0" align="center" |class="wikitable"
! colspan="4" style="background:#4479BA; color: #FFFFFF;" |Fetal alcohol syndrome
|-
!
!Facial Characterstics
!Growth retardation
!CNS involvement
|-
|'''Four digit code'''
|'''Simultaneous presentation of'''
* Short palpebral fissures (≤2 SD)
* Thin vermillion border
* Smooth philtrum
|Height or weight ≤10th percentile
|
* Head circumference (OFC) ≥2 SD below
* Significant abnormalities in brain structure '''or'''
* Evidence of hard neurological findings '''or'''
* Significant impairment in ≥3 domains of brain function
|-
|'''Hoyme–Revised IOM'''
|'''≥2 of the following'''
* Short palpebral fissures
* Thin vermillion border
* smooth philtrum
|Height or weight ≤10th percentile
|
* Head circumference (OFC) ≤10th percentile '''or'''
* Structural brain abnormality
|-
|'''Chudley–Canadian'''
|'''Simultaneous presentation''' of
* Short palpebral fissures
* Thin vermillion border
* Smooth philtrum
|Height or weight or disproportionately low weight-to-height ratio (≤10th percentile)
|Evidence of ≥3 impairments in the following CNS domains
* Hard and soft neurologic signs
* Executive functioning and abstract reasoning
* Attention deficit/hyperactivity
|-
|'''National Task Force/CDC'''
|'''Simultaneous presentation of'''
* Short palpebral fissures (≤10th percentile)
* Thin vermillion border
* Smooth philtrum
|Height or weight ≤10th percentile at any point in time.
|
* Head circumference (OFC) ≤10th percentile '''or'''
* Structural brain abnormality '''or'''
* Neurological problems '''or'''
* Other soft neurological signs outside normal limits or functional impairment as evidenced by global cognitive or intellectual deficits
|}


===History and Symptoms===
==History and Symptoms==
{| class="wikitable"
{| class="wikitable"
|+
|+
Symptoms of FASDs<ref name="CDC" /><ref name="Canadian" /><ref name="4digitcode" />
!
!
!Alcohol exposure
!Alcohol exposure
Line 114: Line 373:
|Moderate
|Moderate
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|
|}
|}
===Growth deficiency===
Common symptoms of FASDs include :<ref name="Mattson10" /><ref name="Jones1973" /><ref name="Mattson10" /><ref name="IOM" /><ref name="4digitcode" /><ref name="CDC" /><ref name="Canadian" />
[[Individual growth|Growth]] deficiency is defined as significantly below average [[Human height|height]], [[Human weight|weight]] or both due to prenatal alcohol exposure, and can be assessed at any point in the [[Maximum life span|lifespan]]. Growth measurements must be adjusted for parental height, [[gestational age]] (for a [[premature birth|premature infant]]), and other [[postnatal]] insults (e.g., poor nutrition), although birth height and weight are the preferred measurements.<ref name="4digitcode" /> Deficiencies are documented when height or weight falls at or below the 10th percentile of standardized growth charts appropriate to the patient's population.
* Abnormal facial features, such as a smooth ridge between the nose and upper lip (this ridge is called the philtrum)
 
* Small head size
The CDC and Canadian guidelines use the 10th percentile as a cut-off to determine growth deficiency.<ref name="CDC" /><ref name="Canadian" /> 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.<ref name="4digitcode" /> Growth deficiency (at severe, moderate, or mild levels) contributes to diagnoses of FAS and PFAS (Partial Fetal Alcohol Syndrome), but not ARND (Alcohol-Related Neurodevelopmental Disorder) or static encephalopathy.
* Shorter-than-average height
 
* Low body weight
Growth deficiency is ranked as follows by the "4-Digit Diagnostic Code:"<ref name="4digitcode" />
* Poor coordination
*Severe &mdash; Height and weight at or below the 3rd percentile.
* Hyperactive behavior
*Moderate &mdash; Either height or weight at or below the 3rd percentile, but not both.
* Difficulty with attention
*Mild &mdash; Both height and weight between the 3rd and 10th percentiles.
* Poor memory
*None &mdash; Height and weight both above the 10th percentile.
* Difficulty in school (especially with math)
 
* Learning disabilities
===Facial features===
* Speech and language delays
<!--  Commented out because image was deleted: [[Image:NewbornFAS.jpg||right|thumb|220px|Newborn infant with FAS. {{deletable image-caption|1=Monday, 19 November 2007}}]] -->
* Intellectual disability or low IQ
 
* Poor reasoning and judgment skills
Several characteristic [[craniofacial]] abnormalities are visible in individuals with FAS.  The presence of FAS facial features indicates [[brain damage]], though brain damage may also exist in their absence. FAS facial features (and most other visible, but non-diagnostic, deformities) are believed to be caused mainly during the 10th and 20th week of gestation.
* Sleep and sucking problems as a baby
 
* Vision or hearing problems
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:
* Problems with the heart, kidneys, or bones
 
*A smooth [[philtrum]] &mdash; The divot or groove between the nose and upper lip flattens with increased prenatal alcohol exposure.
*Thin vermilion &mdash; The [[upper lip]] thins with increased prenatal alcohol exposure.
*Small [[palpebral fissure]]s &mdash; [[Eye]] width decreases 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.
 
Ranking FAS facial features is complicated because the three separate facial features can be affected independently by prenatal alcohol. A summary of the criteria follows:<ref name="4digitcode" />
 
*Severe &mdash; All three facial features ranked independently as severe (lip ranked at 4 or 5, philtrum ranked at 4 or 5, and PFL less than or equal to two standard deviations below average).
*Moderate &mdash; Two facial features ranked as severe and one feature ranked as moderate (lip ''or'' philtrum ranked at 3, ''or'' PFL between one and two standard deviations below average).
*Mild &mdash; A mild ranking of FAS facial features covers a broad range of facial feature combinations:
**Two facial features ranked severe and one ranked within normal limits,
**One facial feature ranked severe and two ranked moderate, or
**One facial feature ranked severe, one ranked moderate and one ranked within normal limits.
*None &mdash; All three facial features ranked within normal limits.
 
These distinctive facial features in a patient do strongly correlate to brain damage. [[Sterling Clarren]] of the University of Washington's Fetal Alcohol and Drug Unit told a conference in 2002:
 
<blockquote>I have never seen anybody with this whole face who doesn't have some [[brain damage]]. In fact in studies, as the face is more FAS-like, the [[brain]] is more likely to be abnormal. The only face that you would want to counsel people or predict the future about is the full FAS face. But the risk of brain damage increases as the eyes get smaller, as the [[philtrum]] gets flatter, and the lip gets thinner. The risk goes up but not the diagnosis.</blockquote>
 
<blockquote>At one-month [[gestation]], the top end of your body is a brain, and at the very front end of that early brain, there is tissue that has been brain tissue. It stops being brain and gets ready to be your face ... Your [[eyeball]] is also brain tissue. It's an extension of the second part of the brain. It started as brain and "popped out." So if you are going to look at parts of the brain from alcohol damage, or any kind of damage during pregnancy, eye malformations and midline facial malformations are going to be very actively related to the brain across syndromes ... and they certainly are with FAS.</blockquote>
 
===Central nervous system damage===
<!-- Deleted image removed: [[Image:FASbrains2.gif|right|thumb|250px|The image shows the brains of two six-week-old infants. The left brain is confirmed no alcohol exposure, while the right brain is of an infant with FAS. [http://www.come-over.to/FAS/FASbrain.htm]]] -->
 
[[Central nervous system]] (CNS) damage is the primary 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.<ref name="IOM" /> While functional abnormalities are the behavioral and cognitive expressions of the FAS 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.<ref name="IOM" /> The "4-Digit Diagnostic Code" and CDC guidelines state that functional anomalies must measure at two standard deviations or worse in three or more functional domains for a diagnoses of FAS.<ref name="4digitcode" /><ref name="CDC" /> The "4-Digit Diagnostic Code" further elaborates the degree of CNS damage according to four ranks:
*Definite &mdash; Structural impairments or neurological impairments for FAS or static encephalopathy.
*Probable &mdash; Significant dysfunction of two standard deviations or worse in three or more functional domains.
*Possible &mdash; 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 &mdash; 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]] (small head size) of two or more standard deviations below the average, or other abnormalities in brain structure (e.g., [[agenesis of the corpus callosum]], [[cerebellar hypoplasia]]).<ref name="IOM" />
 
Microcephaly is determined by comparing head circumference (often called [[Orbitofrontal cortex|occipitofrontal]] circumference, or OFC) to appropriate OFC growth charts.<ref name="growthchart" /> Other structural impairments must be observed through [[medical imaging]] techniques by a trained physician. Because imaging procedures are expensive and relatively inaccessible to most patients, diagnosis of FAS is not frequently made via structural impairments, except for microcephaly.
 
Evidence of a CNS structural impairment due to prenatal alcohol exposure will result in a diagnosis of FAS, and neurological and functional impairments are highly likely.<ref name="IOM" /><ref name="4digitcode" /><ref name="CDC" /><ref name="Canadian" />
 
During the first trimester of pregnancy, alcohol interferes with the migration and organization of [[brain cell]]s, which can create structural deformities or deficits within the brain. During the third trimester, damage can be caused to the [[hippocampus]], which plays a role in memory, learning, emotion, and encoding visual and auditory information, all of which can create neurological and functional CNS impairments as well.
 
As of 2002, there were 25 reports of [[Autopsy|autopsies]] on infants known to have FAS. The first was in 1973, on an infant who died shortly after birth.<ref name="Jones1973" /> The examination revealed extensive brain damage, including [[microcephaly]], migration anomalies, callosal dysgenesis, and a massive neuroglial, [[leptomeningeal]] [[Heterotopia (medicine)|heterotopia]] covering the left hemisphere.
 
In 1977, Dr. Clarren described a second infant whose mother was a binge drinker. The infant died ten days after birth. The autopsy showed severe [[hydrocephalus]], abnormal neuronal migration, and a small [[corpus callosum]] (which connects the two [[Cerebral hemisphere|brain hemispheres]]) and [[cerebellum]].<ref name="Mattson10" /> FAS has also been linked to [[brainstem]] and [[Cerebellum|cerebellar]] changes, agenesis of the [[corpus callosum]] and [[anterior commissure]], neuronal migration errors, absent [[olfactory bulb]]s, [[meningomyelocele]], and [[porencephaly]].<ref name="Mattson10" />
 
====Neurological====
When structural impairments are not observable or do not exist, neurological impairments are assessed. In the context of FAS, [[Neurology|neurological impairments]] are caused by prenatal alcohol exposure which causes general neurological damage to the [[central nervous system]] (CNS), the [[peripheral nervous system]], or the [[autonomic nervous system]]. 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]], [[concussion]], [[traumatic brain injury]], 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, and functional impairments are highly likely.<ref name="IOM" /><ref name="4digitcode" /><ref name="CDC" /><ref name="Canadian" />
 
Neurological problems are expressed as either hard signs, or diagnosable disorders, such as [[epilepsy]] or other [[seizure disorder]]s, or soft signs. Soft signs are broader, nonspecific neurological impairments, or symptoms, such as impaired fine [[motor skills]], neurosensory [[hearing loss]], poor [[Gait (human)|gait]], [[Dyspraxia|clumsiness]], poor eye-hand coordination, or [[sensory integration dysfunction]]. Many soft signs have [[Norm-referenced test|norm-referenced criteria]], 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.<ref name="IOM" /><ref name="4digitcode" /><ref name="CDC" /><ref name="Canadian" /> 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<ref name="IOM" /> and only CDC guidelines label developmental delays as such,<ref name="CDC" /> so criteria vary somewhat across diagnostic systems.
 
The four diagnostic systems list various CNS domains that can qualify for functional impairment that can determine an FAS diagnosis:
*Evidence of a complex pattern of behavior or cognitive abnormalities inconsistent with developmental level in the following CNS domains &mdash; sufficient for a PFAS or ARND diagnosis using IOM guidelines<ref name="IOM" />
**[[Learning disability|Learning disabilities]], academic achievement, [[Deferred gratification|impulse control]], [[Social learning (social pedagogy)|social perception]], communication, [[abstraction]], math skills, [[memory]], [[attention]], judgment
*Performance at two or more [[standard deviation]]s on standardized testing in three or more of the following CNS domains &mdash; sufficient for an FAS, PFAS or static encephalopathy diagnosis using 4-Digit Diagnostic Code<ref name="4digitcode" />
**[[Executive functioning]], [[memory]], [[cognition]], [[Adaptive behavior|social/adaptive skills]], academic achievement, language, [[motor skill]]s, [[attention]], activity level
*General [[cognitive]] deficits (e.g., [[IQ]]) at or below the 3rd percentile on standardized testing &mdash; sufficient for an FAS diagnosis using CDC guidelines<ref name="CDC" />
*Performance at or below the 16th percentile on standardized testing in three or more of the following CNS domains &mdash; sufficient for an FAS diagnosis using CDC guidelines<ref name="CDC" />
**[[Cognition]], [[executive functioning]], [[motor skill|motor functioning]], [[ADHD|attention and hyperactive problems]], [[social skills]], [[Sensory Integration Dysfunction|sensory problems]], social communication, [[memory]], difficulties responding to common [[parenting]] practices
*Performance at two or more [[standard deviation]]s on standardized testing in three or more of the following CNS domains &mdash; sufficient for an FAS diagnosis using Canadian guidelines
**[[Cognition]], communication, academic achievement, [[memory]], [[executive functioning]], [[adaptive behavior]], [[social skills]], social communication
 
===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), [[drug rehabilitation|chemical dependency treatment]] 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 &mdash; Confirmed use of alcohol during pregnancy known to be at high [[Blood alcohol content|blood alcohol levels]] (100mg/dL or greater) delivered at least weekly in early pregnancy.
*Some Risk &mdash; Confirmed use of alcohol during pregnancy with use less than High Risk or unknown usage patterns.
*Unknown Risk &mdash; Unknown use of alcohol during pregnancy.
*No Risk &mdash; Confirmed absence of prenatal alcohol exposure, which rules out an FAS diagnosis.
 
====Confirmed exposure====
Amount, frequency, and timing of prenatal alcohol use can dramatically impact the other three key features of FAS. While consensus exists that alcohol is a teratogen, there is no clear consensus as to what level of exposure is toxic.<ref name="IOM" /> 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]] 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 content|blood alcohol concentration]] (BAC) greater than 100mg/dL delivered at least weekly in early pregnancy. This BAC level is typically reached by a 55kg female drinking six to eight beers in one sitting.<ref name="4digitcode" />
 
====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.<ref name="CDC" /> 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.
 
===Related signs===
Other conditions may commonly co-occur with FAS, stemming from prenatal alcohol exposure. However, these conditions are considered [[Fetal Alcohol Spectrum Disorder#Alcohol-Related Birth Defects|Alcohol-Related Birth Defects]]<ref name="IOM" /> and not diagnostic criteria for FAS.
*Cardiac &mdash; A [[heart murmur]] that frequently disappears by one year of age. [[Ventricular septal defect]] most commonly seen, followed by an [[atrial septal defect]].
*Skeletal &mdash; [[Joint]] anomalies including abnormal position and function, altered [[Single transverse palmar crease|palmar crease]] patterns, small distal [[phalanges]], and small fifth fingernails.
*Renal &mdash; [[Horseshoe kidney|Horseshoe]], aplastic, dysplastic, or hypoplastic [[kidney]]s.
*Ocular &mdash; [[Strabismus]], [[optic nerve hypoplasia]] (which may cause [[light sensitivity]], decreased [[visual acuity]], or involuntary eye movements).
*Occasional abnormalities &mdash; [[ptosis (eyelid)|Ptosis]] of the eyelid, microophthalmia, [[cleft lip]] with or without a [[cleft palate]], webbed neck, short neck, [[Tetralogy of Fallot]], [[coarctation of the aorta]], [[Spina bifida]], and [[hydrocephalus]].


==Prognosis==
==Prognosis==
===Primary disabilities===
The primary disabilities of FAS are the functional difficulties with which the child is born as a result of CNS damage due to prenatal alcohol exposure.<ref name="2disabilities" /> Often, primary disabilities are mistaken as ''behavior problems'', but the underlying CNS damage is the originating source of a functional difficulty (rather than a mental health condition, which is considered a secondary disability).


The exact mechanisms for functional problems of primary disabilities are not always fully understood, but [[Animal testing|animal studies]] have begun to shed light on some correlates between functional problems and brain structures damaged by prenatal alcohol exposure.<ref name="FASGuide" /> Representative examples include:
{| class="wikitable"
*[[Learning disability|Learning impairments]] are associated with impaired [[dendrite]]s of the [[hippocampus]]
|+
! colspan="2" |Prognosis
|-
|Primary disabilities
|
*[[Learning disability|Learning impairments]] are associated with impaired [[dendrite]]s of the [[hippocampus]]<ref name="FASGuide" /><ref name="MalbinTry" /><ref name="MalbinFAE" /><ref name="2disabilities" />
*Impaired [[Motor skill|motor development]] and functioning are associated with reduced size of the [[cerebellum]]
*Impaired [[Motor skill|motor development]] and functioning are associated with reduced size of the [[cerebellum]]
*[[Hyperactivity]] is associated with decreased size of the [[corpus callosum]]
*[[Hyperactivity]] is associated with decreased size of the [[corpus callosum]]
 
|-
Functional difficulties may result from CNS damage in more than one domain, but common functional difficulties by domain include:<ref name="MalbinFAE" /><ref name="FASGuide" /><ref name="MalbinTry" /> (This is not an exhaustive list of difficulties.)
|Secondary disabilities
*Achievement &mdash; [[Learning disability|Learning disabilities]]
|
*Adaptive behavior &mdash; Poor [[Deferred gratification|impulse control]], poor personal boundaries, poor anger management, stubbornness, intrusive behavior, too friendly with strangers, poor daily living skills, developmental delays
*Attention &mdash; [[ADHD|Attention-Deficit/Hyperactivity Disorder]] (ADHD), poor attention or concentration, distractible
*Cognition &mdash; [[Mental retardation]], confusion under pressure, poor [[Abstraction|abstract skills]], difficulty distinguishing between fantasy and reality, slower cognitive processing
*Executive functioning &mdash; Poor [[Decision making|judgment]], [[Processing disorder|Information-processing disorder]], poor at perceiving patterns, poor cause and effect reasoning, inconsistent at linking words to actions, poor [[generalization]] ability
*Language &mdash; [[Expressive language disorder|Expressive]] or [[Mixed receptive-expressive language disorder|receptive]] language disorders, grasp parts not whole concepts, lack understanding of metaphor, idioms, or sarcasm
*Memory &mdash; Poor [[short-term memory]], inconsistent memory and knowledge base
*Motor skills &mdash; Poor handwriting, poor [[fine motor skill]]s, poor [[gross motor skill]]s, delayed motor skill development (e.g., riding a bicycle at appropriate age)
*Sensory integration and soft neurological problems &mdash; [[Sensory integration]] (SI) [[Sensory Integration Dysfunction|disorders]], [[Sensory defensiveness|tactile defensiveness]], under-sensitive to stimulation
*Social communication &mdash; Intrude into conversations, inability to read [[Nonverbal communication|nonverbal]] or [[Social learning (social pedagogy)|social]] cues, "chatty" but without substance
 
===Secondary disabilities===
The secondary disabilities of FAS are those that arise later in life secondary to CNS damage. These disabilities often emerge over time due to a mismatch between the primary disabilities and environmental expectations; secondary disabilities can be ameliorated with early interventions and appropriate supportive services.<ref name="2disabilities" />
 
Six main secondary disabilities were identified in a University of Washington research study of 473 subjects diagnosed with FAS, PFAS (partial fetal alcohol syndrome), and ARND (alcohol-related neurodevelopmental disorder):<ref name="2disabilities" /><ref name="FASGuide" />
*Mental health problems &mdash; Diagnosed with [[ADHD]], [[Clinical Depression]], or other [[mental illness]], experienced by over 90% of the subjects
*Mental health problems &mdash; Diagnosed with [[ADHD]], [[Clinical Depression]], or other [[mental illness]], experienced by over 90% of the subjects
*Disrupted school experience &mdash; Suspended or expelled from school or dropped out of school, experienced by 60% of the subjects (age 12 and older)
*Disrupted school experience &mdash; Suspended or expelled from school or dropped out of school, experienced by 60% of the subjects (age 12 and older)
Line 257: Line 413:
*Inappropriate sexual behavior &mdash; Sexual advances, sexual touching, or promiscuity, experienced by about 50% of the subjects (age 12 and older)
*Inappropriate sexual behavior &mdash; Sexual advances, sexual touching, or promiscuity, experienced by about 50% of the subjects (age 12 and older)
*Alcohol and drug problems &mdash; Abuse or dependency, experienced by 35% of the subjects (age 12 and older)
*Alcohol and drug problems &mdash; Abuse or dependency, experienced by 35% of the subjects (age 12 and older)
Two additional secondary disabilities exist for adult patients:<ref name="2disabilities" /><ref name="FASGuide" />
*Dependent living &mdash; Group home, living with family or friends, or some sort of assisted living, experienced by 80% of the subjects (age 21 and older)
*Dependent living &mdash; Group home, living with family or friends, or some sort of assisted living, experienced by 80% of the subjects (age 21 and older)
*Problems with employment &mdash; Required ongoing job training or coaching, could not keep a job, unemployed, experienced by 80% of the subjects (age 21 and older)
*Problems with employment &mdash; Required ongoing job training or coaching, could not keep a job, unemployed, experienced by 80% of the subjects (age 21 and older)
 
|-
===Protective factors and strengths===
|Protective factors and strengths
Eight factors were identified in the same study as universal protective factors that reduced the incidence rate of the secondary disabilities:<ref name="2disabilities" /><ref name="FASGuide" />
|Eight factors were identified as universal protective factors that reduced the incidence rate of the secondary disabilities:<ref name="2disabilities" /><ref name="FASGuide" />
*Living in a stable and nurturant home for over 72% of life
*Living in a stable and nurturant home for over 72% of life
*Being diagnosed with FAS before age six
*Being diagnosed with FAS before age six
Line 272: Line 426:
*Having basic needs met for at least 13% of life
*Having basic needs met for at least 13% of life
*Having a diagnosis of FAS (rather than another FASD condition)
*Having a diagnosis of FAS (rather than another FASD condition)
 
|}
Malbin (2002) has identified the following areas of interests and talents as strengths that often stand out for those with FASD and should be utilized, like any strength, in treatment planning:
*Music, playing instruments, composing, singing, art, spelling, reading, computers, mechanics, woodworking, skilled vocations (welding, electrician, etc.), writing, poetry


==Treatment==
==Treatment==
There is no specific cure for FAS as the CNS damage is irreversible leading to permanent disability. Treatment can be focused on halting the progression and behavioral therapy to improve the quality of life. Comprehensive, multi-model approaches based on the needs of the patient is considered as one of the best approach.  
There is no specific cure for FAS as the CNS damage is irreversible leading to permanent disability. Treatment can be focused on halting the progression and behavioral therapy to improve the quality of life.<ref name="pmid16251866">{{cite journal |vauthors=Bertrand J, Floyd LL, Weber MK |title=Guidelines for identifying and referring persons with fetal alcohol syndrome |journal=MMWR Recomm Rep |volume=54 |issue=RR-11 |pages=1–14 |date=October 2005 |pmid=16251866 |doi= |url=}}</ref><ref name="pmid19327965">{{cite journal |vauthors=Bertrand J |title=Interventions for children with fetal alcohol spectrum disorders (FASDs): overview of findings for five innovative research projects |journal=Res Dev Disabil |volume=30 |issue=5 |pages=986–1006 |date=2009 |pmid=19327965 |doi=10.1016/j.ridd.2009.02.003 |url=}}</ref><ref name="pmid19463198">{{cite journal |vauthors=Peadon E, Rhys-Jones B, Bower C, Elliott EJ |title=Systematic review of interventions for children with Fetal Alcohol Spectrum Disorders |journal=BMC Pediatr |volume=9 |issue= |pages=35 |date=May 2009 |pmid=19463198 |pmc=2698825 |doi=10.1186/1471-2431-9-35 |url=}}</ref><ref name="pmid21544706">{{cite journal |vauthors=Kodituwakku PW, Kodituwakku EL |title=From research to practice: an integrative framework for the development of interventions for children with fetal alcohol spectrum disorders |journal=Neuropsychol Rev |volume=21 |issue=2 |pages=204–23 |date=June 2011 |pmid=21544706 |doi=10.1007/s11065-011-9170-1 |url=}}</ref><ref name="pmid26438317">{{cite journal |vauthors=Masotti P, Longstaffe S, Gammon H, Isbister J, Maxwell B, Hanlon-Dearman A |title=Integrating care for individuals with FASD: results from a multi-stakeholder symposium |journal=BMC Health Serv Res |volume=15 |issue= |pages=457 |date=October 2015 |pmid=26438317 |pmc=4594899 |doi=10.1186/s12913-015-1113-8 |url=}}</ref><ref name="pmid19731388">{{cite journal |vauthors=Olson HC, Oti R, Gelo J, Beck S |title="Family matters:" fetal alcohol spectrum disorders and the family |journal=Dev Disabil Res Rev |volume=15 |issue=3 |pages=235–49 |date=2009 |pmid=19731388 |doi=10.1002/ddrr.65 |url=}}</ref><ref name="pmid16919732">{{cite journal |vauthors=Kalberg WO, Buckley D |title=FASD: what types of intervention and rehabilitation are useful? |journal=Neurosci Biobehav Rev |volume=31 |issue=2 |pages=278–85 |date=2007 |pmid=16919732 |doi=10.1016/j.neubiorev.2006.06.014 |url=}}</ref>


*Management of fetal alcohol spectrum disorders classically is divided into two main areas.  
*Management of fetal alcohol spectrum disorders classically is divided into two main areas.  
** '''Pre-conceptual''': Recognition of the dangers of alcohol consumption in pregnancy and the prevention of damage to the fetus.  
** '''Pre-conceptual''': Recognition of the dangers of alcohol consumption in [pregnancy]] and the prevention of damage to the fetus.  
** '''Post diagnosis''': Relates to the management of people who have the condition.  
** '''Post diagnosis''': Relates to the management of people who have the condition.  
* The emphasis on prevention has been the most highly publicized of the two with numerous authors stressing the level of risk that is harmful, early detection of at risk mothers, the need for information sharing between professionals and public as paramount priorities.
Behavioral management of FASD can be summarized in the following table:
* Emerging methods such as the use of routine screening tools such as TWEAK, hair sampling, or meconium testing have been suggested.
* However, the ethical debate around their use is in its infancy thus clarification is required before they can be recommended routinely.
* Research into protective factors during pregnancy has been inconclusive and contradictory.
* The use of vitamin E as a potential antioxidant has been shown beneficial in some studies and ineffective in others.
* Clearly, much has still to de done before conclusive information can be given to mothers contemplating pregnancy.
* For this reason we continue to emphasize the general abstinence message.
*
With regard to children and adults who have fetal alcohol spectrum disorders, much work has been undertaken to categorize difficulties and establish diagnoses. Less research has been undertaken relating to clinical management. This work has mainly involved children in the USA and Canada. Chudley ''et al''.1recently reviewed the Canadian guidance on diagnosing and managing fetal alcohol spectrum disorders. They emphasize early recognition and psychometric testing combined with multidisciplinary intervention approaches.
 
Table 1 shows a possible timeline of groups involved in the management of fetal alcohol spectrum disorders throughout the lifespan of sufferers from a preconception to old age based on our clinical experiences working with fetal alcohol spectrum disorders in the UK. Much of what can be implemented depends on local resources and vision. Preconception prevention aspects involve government and GPs in terms of health promotion and advice; later GPs, obstetricians and others are needed during the pregnancy in addition to routine antenatal care to monitor alcohol use and to provide health advice. It is here that suspected cases can be highlighted and information passed to colleagues in order to maximize early pickup of problems. Simple, regular recording of information about alcohol consumption will facilitate this process and inform future diagnoses. Failure to do so leads to avoidable difficulties and impairments later.
 
Behavioral management of FASD can be summarized in the following table
{| class="wikitable"
{| class="wikitable"
|+
|+
! colspan="4" |Time Period  
! colspan="4" |Time Period For Intervention
|-
|-
!Pre-Conception
!Pre-Conception
Line 308: Line 448:
* Pre-conception adivce
* Pre-conception adivce
|
|
* Monitoring of pregnancy
* Monitoring of [[pregnancy]]
* Information documentation
* Information documentation
* Correspondence with colleagues
* Correspondence with colleagues
Line 332: Line 472:
* Management of disabilities  
* Management of disabilities  
|}
|}
{| class="wikitable"
|+
! colspan="2" |Treatment
|-
|Medical interventions
|Due to overlapping symptoms between other diseases such as ADHD, traditional [[Medical model|medical]] interventions (i.e., [[psychoactive drug]]s) are frequently tried.
* '''Stimulants'''
* '''Antidepressants'''
* '''Neuroleptics'''
* '''Anti-anxiety drugs'''
|-
|Behavioral interventions
|Following are behavior and education therapies that have been shown to be effective for some children with FASDs:


===Medical interventions===
'''Good Buddies'''
Traditional [[Medical model|medical]] interventions (i.e., [[psychoactive drug]]s) are frequently tried on those with FAS because many FAS symptoms are mistaken for or overlap with other disorders, most notably [[ADHD]].<ref name="Buxton" /> For instance, an FAS patient who is inattentive, does not complete schoolwork, and cannot stay seated has characteristics that an untrained person could easily mistake as [[ADHD]], especially if the patient is not yet diagnosed with FAS. A common course of action would be a medication referral to a pediatrician, who might recommend a trial of [[Ritalin]] for the symptoms.  
* A children’s friendship training to teach individuals with an FASD appropriate social skills.
 
* Children with FASDs often have difficulty learning subtle social skills from their own experiences; those kinds of skills are typically “learned by osmosis” on the playground, such as how to slip into a group, appropriate sharing, or dealing with teasing.  
Medications are often important in treating FAS, but should be used in conjunction with other intervention approaches to address the multiple disabilities that arise from FAS.
* This intervention uses a group format to teach age-appropriate social skills over 12 weekly sessions for parent and child. Sessions are organized around and toward each child hosting a play date with a classmate or peer.
 
'''Families Moving Forward (FMF) program to provide support for families who deal with challenging FASD behaviors'''
===Behavioral interventions===
* This intervention is most appropriate for children with severe, clinically significant behavior problems based in part on positive behavior support techniques.  
Traditional [[Behaviorism|behavioral]] interventions are predicated on learning theory, which is the basis for many parenting and professional strategies and interventions.<ref name="MalbinTry" /> Along with ordinary parenting styles, such strategies are frequently used by default for treating those with FAS, as the diagnoses [[Oppositional Defiance Disorder]] (ODD), [[Conduct Disorder]], [[Reactive attachment disorder|Reactive Attachment Disorder]] (RAD), etc. often overlap with FAS (along with [[ADHD]]), and these are sometimes thought to benefit from behavioral interventions. Frequently, a patient's poor academic achievement results in [[special education]] services, which also utilizes principles of learning theory, [[behavior modification]], and outcome-based education.
* It is a feasible, low-intensity, sustained model of supportive consultation with a parent or caregiver (rather than directly with the child).
 
* The intervention lasts 9 to 11 months, with at least 16 every-other-week sessions, typically lasting 90 minutes each.
Because the "learning system" of a patient with FAS is damaged, however, behavioral interventions are not always successful, or not successful in the long run, especially because overlapping disorders frequently stem from or are exacerbated by FAS.<ref name="MalbinTry" /> Alfie Kohn (1999) suggests that a rewards-punishment system in general may work somewhat in the short-term but is unsuccessful in the long-term because that approach fails to consider content (i.e., things "worth" learning), community (i.e., safe, cooperative learning environments), and choice (i.e., making choices versus following directions). While these elements are important to consider when working with FAS and have some usefulness in treatment, they are not alone sufficient to promote better outcomes.<ref name="MalbinTry" /> Kohn's minority challenge to behavioral interventions does illustrate the importance of factors beyond learning theory when trying to promote improved outcomes for FAS, and supports a more multi-model approach that can be found in varying degrees within the advocacy model and neurobehavioral approach.
* Services are carried out by mental health providers with specialized training.
 
'''Math Interactive Learning Experience (MILE) program to help with mathematics difficulty'''
===Developmental framework===
* Deficits in mathematical functioning have been reported consistently among alcohol-affected individuals.
Many books and handouts on FAS recommend a developmental approach, based on [[developmental psychology]], even though most do not specify it as such and provide little theoretical background. Optimal human development generally occurs in identifiable stages (e.g., Jean Piaget's [[theory of cognitive development]], [[Erik Erikson]]'s stages of psychosocial development, [[John Bowlby]]'s [[Attachment theory|attachment framework]], and other developmental stage theories). FAS interferes with normal development,<ref name="McCreight" /> which may cause stages to be delayed, skipped, or immaturely developed. Over time, an unaffected child can negotiate the increasing demands of life by progressing through stages of development normally, but not so for a child with FAS.<ref name="McCreight" />
* The MILE program is designed to improve the child’s mathematical knowledge and skill.
 
* Children complete 6 weeks of one-to-one tutoring using specifically adapted materials (eg, vertical number line, timers, etc.) that are appropriate to their academic level.
By knowing what developmental stages and tasks children follow, treatment and interventions for FAS can be tailored to helping a patient meet developmental tasks and demands successfully.<ref name="McCreight" /> If a patient is delayed in the [[adaptive behavior]] domain, for instance, then interventions would be recommended to target specific delays through additional education and practice (e.g., practiced instruction on tying shoelaces), giving reminders, or making accommodations (e.g., using slip-on shoes) to support the desired functioning level. This approach is an advance over behavioral interventions, because it takes the patient's developmental context into account while developing interventions.
* Parents also receive training on behavioral regulation techniques to optimize the child’s readiness to learn.
 
'''Parents and Children Together (PACT) a neurocognitive habilitation program to improve self-regulation and executive function'''
===Advocacy model===
* Building upon techniques developed from the brain injury literature, this intervention used 12 weekly sessions with parents and children to address and improve behavior regulation and executive function (that is, planning, organizing, and understanding of others).  
The [[advocacy]] model takes the point of view that someone is needed to actively mediate between the environment and the person with FAS.<ref name="FASGuide" /> Advocacy activities are conducted by an advocate (for example, a family member, friend, or [[Case management|case manager]]) and fall into three basic categories. An advocate for FAS: (1) interprets FAS and the disabilities that arise from it and explains it to the environment in which the patient operates, (2) engenders change or accommodation on behalf of the patient, and (3) assists the patient in developing and reaching attainable goals.<ref name="FASGuide" />
* It uses a particularly engaging metaphor of “how does my engine run” to teach children awareness of their current behavioral state and specific techniques for optimizing that state for the current situation.
 
|-
The advocacy model is often recommended, for example, when developing an Individualized Education Program (IEP) for the patient's progress at school.
|Parent Training
 
|Children with FASDs might not respond to the usual parenting practices. However, the following parenting tips are recommended:
An understanding of the developmental framework would presumably inform and enhance the advocacy model, but advocacy also implies interventions at a systems level as well, such as educating schools, social workers, and so forth on best practices for FAS. However, several organizations devoted to FAS also use the advocacy model at a [[community practice]] level as well.
* Concentrate on child’s strengths and talents
 
* Accepting child’s limitations
===Neurobehavioral approach===
* Be consistent with discipline, school, behaviors of the child
The neurobehavioral approach focuses on the [[Neurology|neurological]] underpinnings from which [[behavior]]s and [[Cognition|cognitive processes]] arise.<ref name="MalbinTry" /> It is an integrative perspective that acknowledges and encourages a multi-modal array of treatment interventions that draw from all FAS treatment approaches. The neurobehavioral approach is a serious attempt at shifting single-perspective treatment approaches into a new, coherent paradigm that addresses the complexities of problem behaviors and cognitions emanating from the CNS damage of FAS.
* Using of concrete language and examples
 
* Employment of stable routines
The neurobehavioral approach's main proponent is Diane Malbin, MSW, a recognized speaker and trainer in the FASD field, who first articulated the approach with respect to FASD and characterizes it as "''Trying differently rather than trying harder''." The idea to ''try differently'' refers to trying different perspectives and intervention options based on effects of the CNS damage and particular needs of the patient, rather than ''trying harder'' at implementing behavioral-based interventions that have consistently failed over time to produce improved outcomes for a patient. This approach also encourages more strength-based interventions, which allow a patient to develop positive outcomes by promoting success linked to the patient's strengths and interests.<ref name="MalbinTry" />
* Being specific and elaborative
 
* Using visual aides, music, and hands-on activities
===Public health and policy===
* Using positive reinforcement often (praise, incentives)
Treating FAS at the [[public health]] and [[public policy]] levels promotes FAS prevention and diversion of public resources to assist those with FAS.<ref name="FASGuide" /> It is related to the advocacy model but promoted at a systems level (rather than with the individual or family), such as developing community education and supports, state or province level prevention efforts (e.g., screening for maternal alcohol use during [[OB/GYN]] or prenatal medical care visits), or national awareness programs. Several organizations and state agencies in the U.S. are dedicated to this type of intervention.<ref name="agencies" />
|-
|Alternative therapies
|
* Biofeedback
* [[Auditory]] training
* Relaxation therapy, [[visual]] imagery, and meditation (especially for sleep problems and [[anxiety]])
* Creative art therapy
* Yoga and exercise
* Acupuncture and acupressure
* Massage, Reiki, and energy healing
* Vitamins, herbal supplements, and homeopathy
* Animal-assisted therapy
|}


==Prevention==
==Prevention==

Latest revision as of 00:19, 10 September 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Overview

Fetal alcohol spectrum disorders (FASDs) are a group of disorders that encompass fetal alcohol syndrome (FAS), partial fetal alcohol syndrome, alcohol-related birth defects (ARBD), alcohol-related neurodevelopmental disorder (ARND), and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). The most potent risk factor for FASD's include prenatal exposure to alcohol. FASD's is the leading preventable cause of birth defects and intellectual and neurodevelopmental disabilities in children. Early recognition, diagnosis, and therapy for FASD is associated with improved outcomes.

History

  • In 1899. Dr William Sullivan, a Liverpool prison physician was the first to report a case study describing an association between maternal alcohol use and fetal damage in female prisoners.[1]
  • In 1968, Fetal alcohol syndrome was discovered and separated as a entire new diseases at the University of Washington’s Harborview Medical Center in Washington.
  • By 1973, sufficient research evidence had accrued to devise basic diagnostic criteria such that FAS became established as a diagnostic entity.[2][3]
  • In 1973, Dr keneth Lyons Jones and David W Smith professors of University of Washington Medical School in Seattle was the first to introduce the term Fetal alcohol syndrome.[4]
  • By 1978, 245 cases of FAS had been reported by medical researchers, and the syndrome began to be described as the most frequent known cause of mental retardation.
  • In 1981, The US Surgeon General issued the first public health advisory that alcohol during pregnancy is responsible birth defects.
  • In 1989, US Congress mandated warning labels about potential birth defects on alcohol products.

Classification

According to American Academy of Pediatrics fetal alcohol spectrum disorders (FASDs) encompasses group of disorders based upon the manifestations into 5 sub types.

  • Fetal alcohol syndrome (FAS)
  • Partial fetal alcohol syndrome
  • Alcohol-related birth defects (ARBD)
  • Alcohol-related neurodevelopmental disorder (ARND)
  • Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE).

 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Fetal alcohol spectrum disorders
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Fetal alcohol syndrome (FAS)
 
 
 
Partial fetal alcohol syndrome
 
 
 
Alcohol-related birth defects (ARBD)
 
 
 
 
Alcohol-related neurodevelopmental disorder (ARND)
 
 
 
Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
A▪ Confirmed maternal alcohol exposure.
B▪ Evidence of characteristic pattern of facial anomalies
C▪ Evidence of growth retardation
D▪ Evidence of CNS abnormalities
 
 
 
A, B, C, D and
E▪ Evidence of a complex pattern of behavior or cognitive abnormalities
 
 
 
▪ Cardiac
▪ Skeletal
▪ Renal
▪ Ocular
▪ Auditory
▪ Other
 
 
 
 
A,B, D, and E
▪ No growth retardation
 
 
 
Behavioral abnormalities predominant with no growth retardation
 
 
 
 

Pathophysiology

  • Drinking alcohol during pregnancy is the most potent etiological factor for the development of fetal alcohol syndrome disorders.
  • The developing embryo is susceptible to dysmorphogenisis during the first few weeks of pregnancy.
  • Alcohol can pass through umbilical cord to the baby effecting morphogeneisis leading to

Risk Factors

The most potent risk factor in the development of FASD's include prenatal exposure of alcohol. Other risk factors include:

  • Alcohol consumption
  • Increase in maternal age
  • Maternal genotype|
  • Increase in parity/gravidity
  • Higher birth order of the child
  • Low socioeconomic status

Epidemiology and Demographics

Prevalence

  • According to National Institute on Alcohol Abuse and Alcoholism study, CDC and AAP it is estimated that FASD's is prevalent in 2-5% of children in the United States.
  • CDC released a fact sheet in 2016, according to which prevalence of fetal alcohol syndrome is believed to be 1 in 20 children.
  • Comprehensive data on the number of individuals with an FASD in the general population of the Unites States, or by state, race or ethnicity, is currently not available.
  • Journal of the American Medical Association published the results of a National Institute on Alcohol Abuse and Alcoholism study that measured the prevalence of fetal alcohol spectrum disorders (FASD) among first-grade students in four US communities. 
    • Over 6,500 children were evaluated and the most conservative estimate for FASD ranged from 1 to 5 percent, or 1 in 20 students. 
  • Data from the Centers for Disease Control and Prevention (CDC) asserts that 10 percent of pregnant women report drinking alcohol and 3 percent report binge drinking, putting over 100,000 births in the US each year at high risk for FASD.
Source: CDC

Differential Diagnosis

Fetal alcohol syndrome must be differentiated from other genetic diseases, with similar manifestations such as smooth philtrum, thin vermillion border and small palpebral fissures. American academy of pediatrics and CDC reviewed and recommended 9 genetic diseases that has to screened and differentiated from FAD's which include Aarskog syndrome, Williams syndrome, Noonan syndrome, Dubowitz syndrome, Brachman-DeLange syndrome, Toluene syndrome, Fetal hydantoin syndrome, Fetal valproate syndrome, and Maternal PKU fetal effects.

Syndrome Overlapping features Differentiating features
Aarskog syndrome
  • Small nose with anteverted nares
  • Broad philtrum
  • Maxillary hypoplasia
  • Wide-spaced eyes
  • Rounded face
  • Down-slant to palpebral fissures
  • Widow's peak
  • Crease below lower lip
  • Incomplete out folding of upper helices
  • Dental eruption problems
Williams syndrome
  • Short palpebral fissures
  • Anteverted nares
  • Long philtrum
  • Depressed nasal bridge
  • Epicanthal folds
  • Wide mouth with full lips
  • Stellate pattern of the iris
  • Periorbital fullness
  • Connective tissue disorders
Noonan syndrome
  • Low nasal bridge
  • Wide-spaced eyes
  • Epicanthal folds
  • Down-slant to palpebral fissures
  • Keratoconus
  • Wide mouth
  • Protruding upper lip
Dubowitz syndrome
  • Short palpebral fissures
  • Wide-spaced eyes
  • Epicanthal folds
  • Shallow supraorbital ridge with nasal bridge near the level of the forehead
  • Broad nasal tip
Brachman-DeLange syndrome
  • Long philtrum
  • Thin vermillion border
  • Anteverted nares
  • Depressed nasal bridge
  • Single, bushy eyebrow extending across forehead
  • Long eyelashe
  • Downturned mouth
  • High-arched palate,
  • Short limbs
Toluene syndrome
  • Short palpebral fissures
  • Mid-face hypoplasia
  • Smooth philtrum
  • Thin vermillion border
  • Micrognathia
  • Large anterior fontanel
  • Down-turned mouth corners
  • Hair patterning abnormalities
  • Bifrontal narrowing
  • Ear abnormalities
Fetal hydantoin syndrome
  • Wide-spaced eyes
  • Depressed nasal bridge
  • Short nose with bowed upper lip
Fetal valproate syndrome
  • Epicanthal folds
  • Anteverted nares
  • Long philtrum with thin vermilion border
  • Wide-spaced eyes
  • High forehead
  • Infraorbital crease or groove
  • Small mouth
Maternal PKU fetal effects
  • Epicanthal folds
  • Short palpebral fissures
  • Long underdeveloped philtrum
  • Thin vermillion border
  • Small upturned nose
  • Round facies
  • Prominent glabella

The following tables summarizes the differential diagnosis of individual features associated with FAS

Differential diagnosis of individual features associated with FAS
Smooth philtrum
  • Cornelia de Lange syndrome
  • Floating-Harbor syndrome
  • Geleophysic dysplasia
  • Opitz syndrome
  • Toluene embryopathy
Thin Vermillion border
  • Miller-Dieker (Lissencephaly) syndrome
  • Fetal Valproate syndrome
  • Geleophysic dysplasia
  • Cornelia de Lange syndrome
  • Toluene embryopathy
Small palpebral fissures
  • Campomelic dysplasia
  • DiGeorge sequence
  • Dubowitz syndrome
  • Duplication 10q sequence
  • Duplication 15q sequence
  • FG syndrome
  • Maternal phenylketonuria (PKU) fetal effects
  • Oculodentodigital syndrome
  • Opitz syndrome
  • Trisomy 18 syndrome
  • Williams syndrome
  • Velocardiofacial syndrome
  • Toluene embryopathy

Diagnosis

FASD is clinical diagnosis and there are no specific diagnostic laboratory findings associated with FASD. However, American Academy of Pediatrics and CDC brought up a diagnostic criteria. [5][6][7][8][9][10][11]

Diagnostic criteria for Fetal alcohol spectral disorders

Components of Diagnostic criteria For FASD's
Growth deficiency
  • Prenatal or postnatal height or weight (or both) at or below the 10th percentile[12]
Facial features
  • Smooth philtrum
  • Thin vermillion border
  • Small palpebral fissures
Central nervous system damage Structural
  • Head circumference (OFC) at or below the 10th percentile adjusted for age and sex.
  • Clinically significant brain abnormalities observable through imaging.
Neurological Neurological problems not due to:
  • Postnatal insult or
  • Fever or
  • Other soft neurological signs outside normal limits.
Functional Global cognitive or intellectual deficits representing multiple domains of deficit with performance below the 3rd percentile
Functional deficits below the 16th percentile in at least three of the following domains:
  • Cognitive or developmental deficits or discrepancies
  • Executive functioning deficits
  • Motor functioning delays
  • Problems with attention or hyperactivity
  • Social skills
  • Other, such as sensory problems, pragmatic language problems, memory deficits, etc.
Maternal alcohol exposure
  • Confirmed prenatal alcohol exposure
  • Unknown prenatal alcohol exposure

Diagnostic criteria for Fetal alcohol syndrome

4 diagnostic criteria had been developed in the recent times to diagnose fetal alcohol syndrome

  • Four digit code
  • Hoyme- Revised IOM
  • Chudley–Canadian
  • National Task Force/CDC
Fetal alcohol syndrome
Facial Characterstics Growth retardation CNS involvement
Four digit code Simultaneous presentation of
  • Short palpebral fissures (≤2 SD)
  • Thin vermillion border
  • Smooth philtrum
 Height or weight ≤10th percentile
  • Head circumference (OFC) ≥2 SD below
  • Significant abnormalities in brain structure or
  • Evidence of hard neurological findings or
  • Significant impairment in ≥3 domains of brain function
Hoyme–Revised IOM ≥2 of the following
  • Short palpebral fissures
  • Thin vermillion border
  • smooth philtrum
 Height or weight ≤10th percentile
  • Head circumference (OFC) ≤10th percentile or
  • Structural brain abnormality
Chudley–Canadian Simultaneous presentation of
  • Short palpebral fissures
  • Thin vermillion border
  • Smooth philtrum
 Height or weight or disproportionately low weight-to-height ratio (≤10th percentile) Evidence of ≥3 impairments in the following CNS domains
  • Hard and soft neurologic signs
  • Executive functioning and abstract reasoning
  • Attention deficit/hyperactivity
National Task Force/CDC Simultaneous presentation of
  • Short palpebral fissures (≤10th percentile)
  • Thin vermillion border
  • Smooth philtrum
 Height or weight ≤10th percentile at any point in time.
  • Head circumference (OFC) ≤10th percentile or
  • Structural brain abnormality or
  • Neurological problems or
  • Other soft neurological signs outside normal limits or functional impairment as evidenced by global cognitive or intellectual deficits

History and Symptoms

Symptoms of FASDs[13][14][15]
Alcohol exposure CNS abnormalities Facial anomalies Growth retardation
Fetal alcohol syndrome (FAS) + Severe + +
Partial fetal alcohol syndrome + Severe + -
Alcohol-related neurodevelopmental disorder (ARND) + Severe - -
Neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). + Moderate -

Common symptoms of FASDs include :[16][17][16][3][15][13][14]

  • Abnormal facial features, such as a smooth ridge between the nose and upper lip (this ridge is called the philtrum)
  • Small head size
  • Shorter-than-average height
  • Low body weight
  • Poor coordination
  • Hyperactive behavior
  • Difficulty with attention
  • Poor memory
  • Difficulty in school (especially with math)
  • Learning disabilities
  • Speech and language delays
  • Intellectual disability or low IQ
  • Poor reasoning and judgment skills
  • Sleep and sucking problems as a baby
  • Vision or hearing problems
  • Problems with the heart, kidneys, or bones

Prognosis

Prognosis
Primary disabilities
Secondary disabilities
  • Mental health problems — Diagnosed with ADHD, Clinical Depression, or other mental illness, experienced by over 90% of the subjects
  • Disrupted school experience — Suspended or expelled from school or dropped out of school, experienced by 60% of the subjects (age 12 and older)
  • Trouble with the law — Charged or convicted with a crime, experienced by 60% of the subjects (age 12 and older)
  • Confinement — For inpatient psychiatric care, inpatient chemical dependency care, or incarcerated for a crime, experienced by about 50% of the subjects (age 12 and older)
  • Inappropriate sexual behavior — Sexual advances, sexual touching, or promiscuity, experienced by about 50% of the subjects (age 12 and older)
  • Alcohol and drug problems — Abuse or dependency, experienced by 35% of the subjects (age 12 and older)
  • Dependent living — Group home, living with family or friends, or some sort of assisted living, experienced by 80% of the subjects (age 21 and older)
  • Problems with employment — Required ongoing job training or coaching, could not keep a job, unemployed, experienced by 80% of the subjects (age 21 and older)
Protective factors and strengths Eight factors were identified as universal protective factors that reduced the incidence rate of the secondary disabilities:[20][1]
  • Living in a stable and nurturant home for over 72% of life
  • Being diagnosed with FAS before age six
  • Never having experienced violence
  • Remaining in each living situation for at least 2.8 years
  • Experiencing a "good quality home" (meeting 10 or more defined qualities) from age 8 to 12 years old
  • Having been found eligible for developmental disability (DD) services
  • Having basic needs met for at least 13% of life
  • Having a diagnosis of FAS (rather than another FASD condition)

Treatment

There is no specific cure for FAS as the CNS damage is irreversible leading to permanent disability. Treatment can be focused on halting the progression and behavioral therapy to improve the quality of life.[21][22][23][24][25][26][27]

  • Management of fetal alcohol spectrum disorders classically is divided into two main areas.
    • Pre-conceptual: Recognition of the dangers of alcohol consumption in [pregnancy]] and the prevention of damage to the fetus.
    • Post diagnosis: Relates to the management of people who have the condition.

Behavioral management of FASD can be summarized in the following table:

Time Period For Intervention
Pre-Conception During Pregnancy Childhood 0-18 Adult 18+
  • Public education
  • Pre-conception adivce
  • Monitoring of pregnancy
  • Information documentation
  • Correspondence with colleagues
  • Early recognition
  • Diagnosis
  • Psychometric assessment
  • Educational statement
  • Physical investigations
  • Behavioral management (ADHD)
  • Prevention
  • Diagnosis
  • Psychometric assessment
  • Physical investigation if not previously undertaken
  • Investigation of background and history from/ about birth mother if possible
  • Education of others as to level of function
  • Ongoing support
  • Social
  • Financial
  • Educational
  • Emplyoment
  • Management of disabilities
Treatment
Medical interventions Due to overlapping symptoms between other diseases such as ADHD, traditional medical interventions (i.e., psychoactive drugs) are frequently tried.
  • Stimulants
  • Antidepressants
  • Neuroleptics
  • Anti-anxiety drugs
Behavioral interventions Following are behavior and education therapies that have been shown to be effective for some children with FASDs:

Good Buddies

  • A children’s friendship training to teach individuals with an FASD appropriate social skills.
  • Children with FASDs often have difficulty learning subtle social skills from their own experiences; those kinds of skills are typically “learned by osmosis” on the playground, such as how to slip into a group, appropriate sharing, or dealing with teasing.
  • This intervention uses a group format to teach age-appropriate social skills over 12 weekly sessions for parent and child. Sessions are organized around and toward each child hosting a play date with a classmate or peer.

Families Moving Forward (FMF) program to provide support for families who deal with challenging FASD behaviors

  • This intervention is most appropriate for children with severe, clinically significant behavior problems based in part on positive behavior support techniques.
  • It is a feasible, low-intensity, sustained model of supportive consultation with a parent or caregiver (rather than directly with the child).
  • The intervention lasts 9 to 11 months, with at least 16 every-other-week sessions, typically lasting 90 minutes each.
  • Services are carried out by mental health providers with specialized training.

Math Interactive Learning Experience (MILE) program to help with mathematics difficulty

  • Deficits in mathematical functioning have been reported consistently among alcohol-affected individuals.
  • The MILE program is designed to improve the child’s mathematical knowledge and skill.
  • Children complete 6 weeks of one-to-one tutoring using specifically adapted materials (eg, vertical number line, timers, etc.) that are appropriate to their academic level.
  • Parents also receive training on behavioral regulation techniques to optimize the child’s readiness to learn.

Parents and Children Together (PACT) a neurocognitive habilitation program to improve self-regulation and executive function

  • Building upon techniques developed from the brain injury literature, this intervention used 12 weekly sessions with parents and children to address and improve behavior regulation and executive function (that is, planning, organizing, and understanding of others).
  • It uses a particularly engaging metaphor of “how does my engine run” to teach children awareness of their current behavioral state and specific techniques for optimizing that state for the current situation.
Parent Training Children with FASDs might not respond to the usual parenting practices. However, the following parenting tips are recommended:
  • Concentrate on child’s strengths and talents
  • Accepting child’s limitations
  • Be consistent with discipline, school, behaviors of the child
  • Using of concrete language and examples
  • Employment of stable routines
  • Being specific and elaborative
  • Using visual aides, music, and hands-on activities
  • Using positive reinforcement often (praise, incentives)
Alternative therapies
  • Biofeedback
  • Auditory training
  • Relaxation therapy, visual imagery, and meditation (especially for sleep problems and anxiety)
  • Creative art therapy
  • Yoga and exercise
  • Acupuncture and acupressure
  • Massage, Reiki, and energy healing
  • Vitamins, herbal supplements, and homeopathy
  • Animal-assisted therapy

Prevention

The only certain way to prevent FAS is to simply avoid drinking alcohol during pregnancy.[1] Some studies have shown that light to moderate drinking during pregnancy might not pose a risk to the fetus, although no amount of alcohol during pregnancy can be guaranteed to be absolutely safe. The Royal College of Obstetricians and Gynaecologists conducted a study of over 400,000 women, all of whom had consumed alcohol during pregnancy. No case of fetal alcohol syndrome occurred and no adverse effects on children were found when consumption was under 8.5 drinks per week. A review of research studies found that fetal alcohol syndrome only occurred among alcoholics; no apparent risk to the child occurred when the pregnant women consumed no more than one drink per day. A study of moderate drinking during pregnancy found no negative effects and the researchers concluded that one drink per day provides a significant margin of safety, although they did not encourage drinking during pregnancy. A study of pregnancies in eight European countries found that consuming no more than one drink per day did not appear to have any effect on fetal growth. A follow-up of children at 18 months of age found that those from women who drank during pregnancy, even two drinks per day, scored higher in several areas of development. An analysis of seven medical research studies involving over 130,000 pregnancies found that consuming two to 14 drinks per week did not increase the risk of giving birth to a child with either malformations or fetal alcohol syndrome.

In the United States, the Surgeon General recommended in 1981, and again in 2005, that women abstain from alcohol use while pregnant or while planning a pregnancy, the latter to avoid damage in the earliest stages of a pregnancy, as the woman may not be aware that she has conceived.[28] In the United States, federal legislation has required that warning labels be placed on all alcoholic beverage containers since 1988 under the Alcoholic Beverage Labeling Act.

See also

References

  1. ↑ 1.0 1.1 1.2 1.3 Invalid <ref> tag; no text was provided for refs named FASGuide
  2. ↑ Invalid <ref> tag; no text was provided for refs named foreword
  3. ↑ 3.0 3.1 Invalid <ref> tag; no text was provided for refs named IOM
  4. ↑ Invalid <ref> tag; no text was provided for refs named Jonesetal1973
  5. ↑ Cook JL, Green CR, Lilley CM, Anderson SM, Baldwin ME, Chudley AE, Conry JL, LeBlanc N, Loock CA, Lutke J, Mallon BF, McFarlane AA, Temple VK, Rosales T (February 2016). "Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan". CMAJ. 188 (3): 191–7. doi:10.1503/cmaj.141593. PMC 4754181. PMID 26668194.
  6. ↑ Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA (August 2016). "Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders". Pediatrics. 138 (2). doi:10.1542/peds.2015-4256. PMC 4960726. PMID 27464676.
  7. ↑ Astley SJ, Clarren SK (2000). "Diagnosing the full spectrum of fetal alcohol-exposed individuals: introducing the 4-digit diagnostic code". Alcohol Alcohol. 35 (4): 400–10. PMID 10906009.
  8. ↑ Chudley AE, Conry J, Cook JL, Loock C, Rosales T, LeBlanc N (March 2005). "Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis". CMAJ. 172 (5 Suppl): S1–S21. doi:10.1503/cmaj.1040302. PMC 557121. PMID 15738468.
  9. ↑ Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, Buckley DG, Miller JH, Aragon AS, Khaole N, Viljoen DL, Jones KL, Robinson LK (January 2005). "A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria". Pediatrics. 115 (1): 39–47. doi:10.1542/peds.2004-0259. PMC 1380311. PMID 15629980.
  10. ↑ Hagan JF, Balachova T, Bertrand J, Chasnoff I, Dang E, Fernandez-Baca D, Kable J, Kosofsky B, Senturias YN, Singh N, Sloane M, Weitzman C, Zubler J (October 2016). "Neurobehavioral Disorder Associated With Prenatal Alcohol Exposure". Pediatrics. 138 (4). doi:10.1542/peds.2015-1553. PMC 5477054. PMID 27677572.
  11. ↑ Hoyme HE, Coles CD (October 2016). "Alcohol-Related Neurobehavioral Disabilities: Need for Further Definition and Common Terminology". Pediatrics. 138 (4). doi:10.1542/peds.2016-1999. PMC 5051212. PMID 27677571.
  12. ↑ Invalid <ref> tag; no text was provided for refs named growthchart
  13. ↑ 13.0 13.1 Invalid <ref> tag; no text was provided for refs named CDC
  14. ↑ 14.0 14.1 Invalid <ref> tag; no text was provided for refs named Canadian
  15. ↑ 15.0 15.1 Invalid <ref> tag; no text was provided for refs named 4digitcode
  16. ↑ 16.0 16.1 Invalid <ref> tag; no text was provided for refs named Mattson10
  17. ↑ Invalid <ref> tag; no text was provided for refs named Jones1973
  18. ↑ Invalid <ref> tag; no text was provided for refs named MalbinTry
  19. ↑ Invalid <ref> tag; no text was provided for refs named MalbinFAE
  20. ↑ 20.0 20.1 Invalid <ref> tag; no text was provided for refs named 2disabilities
  21. ↑ Bertrand J, Floyd LL, Weber MK (October 2005). "Guidelines for identifying and referring persons with fetal alcohol syndrome". MMWR Recomm Rep. 54 (RR-11): 1–14. PMID 16251866.
  22. ↑ Bertrand J (2009). "Interventions for children with fetal alcohol spectrum disorders (FASDs): overview of findings for five innovative research projects". Res Dev Disabil. 30 (5): 986–1006. doi:10.1016/j.ridd.2009.02.003. PMID 19327965.
  23. ↑ Peadon E, Rhys-Jones B, Bower C, Elliott EJ (May 2009). "Systematic review of interventions for children with Fetal Alcohol Spectrum Disorders". BMC Pediatr. 9: 35. doi:10.1186/1471-2431-9-35. PMC 2698825. PMID 19463198.
  24. ↑ Kodituwakku PW, Kodituwakku EL (June 2011). "From research to practice: an integrative framework for the development of interventions for children with fetal alcohol spectrum disorders". Neuropsychol Rev. 21 (2): 204–23. doi:10.1007/s11065-011-9170-1. PMID 21544706.
  25. ↑ Masotti P, Longstaffe S, Gammon H, Isbister J, Maxwell B, Hanlon-Dearman A (October 2015). "Integrating care for individuals with FASD: results from a multi-stakeholder symposium". BMC Health Serv Res. 15: 457. doi:10.1186/s12913-015-1113-8. PMC 4594899. PMID 26438317.
  26. ↑ Olson HC, Oti R, Gelo J, Beck S (2009). ""Family matters:" fetal alcohol spectrum disorders and the family". Dev Disabil Res Rev. 15 (3): 235–49. doi:10.1002/ddrr.65. PMID 19731388.
  27. ↑ Kalberg WO, Buckley D (2007). "FASD: what types of intervention and rehabilitation are useful?". Neurosci Biobehav Rev. 31 (2): 278–85. doi:10.1016/j.neubiorev.2006.06.014. PMID 16919732.
  28. ↑ Invalid <ref> tag; no text was provided for refs named SG

Further reading

  • Astley S (2004). "Fetal alcohol syndrome prevention in Washington State: evidence of success". Paediatric and Perintal Epidemiology. 18 (5): 344–51. doi:10.1111/j.1365-3016.2004.00582.x. PMID 15367321.
  • Astley S, Clarren S (2001). "Measuring the facial phenotype of individuals with prenatal alcohol exposure: correlations with brain dysfunction". Alcohol and Alcoholism. 36 (2): 147–59. doi:10.1093/alcalc/36.2.147. PMID 11259212.
  • Gideon Koren, Idan Roifman, Irena Nullman. Hypothetical Framework; FASD and criminality-causation or association? The limits of evidence based knowledge. Journal of FAS International volume=2, issue=6, year=2004 |http://www.motherisk.org/JFAS/econtent_commonDetail.jsp?econtent_id=59
  • Grant T, Ernst C, Streissguth A (1996). "An intervention with high-risk mothers who abuse alcohol and drugs: the Seattle Advocacy Model". American Journal of Public Health. 86 (12): 1816–7. PMID 9003147.
  • Mattson, S.N., & Riley, E.P. (2002). Neurobehavioral and Neuroanatomical Effects of Heavy Prenatal Exposure to Alcohol, in Streissguth, A.P., & Kanter, J. (Eds.) The Challenge in Fetal Alcohol Syndrome: Overcoming Secondary Disabilities. First published in 1997. ISBN 0-295-97650-0
  • Olegård R, Sabel K, Aronsson M, Sandin B, Johansson P, Carlsson C, Kyllerman M, Iversen K, Hrbek A (1979). "Effects on the child of alcohol abuse during pregnancy. Retrospective and prospective studies". Acta Paediatrica Scandinavica Suppl. 275: 112–21. doi:10.1111/j.1651-2227.1979.tb06170.x. PMID 291283.
  • Ratey, J.J. (2001). A User's Guide to the Brain: Perception, Attention, and the Four Theaters of the Brain. New York: Vintage Books. ISBN 0-375-70107-9.
  • Ulleland CN, Wennberg RP, Igo RP, Smith NJ (1970). "The offspring of alcoholic mothers". Abstract. American Pediatric Society for Pediatric Research.


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