Fetal alcohol syndrome

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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.
• 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.
• 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.
• 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
  • Miscarriage
  • Stillbirth
  • Behavioral, and intellectual disabilities

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

• 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.

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
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

	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 :

• 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	Learning impairments are associated with impaired dendrites of the hippocampus Impaired motor development and functioning are associated with reduced size of the cerebellum Hyperactivity is associated with decreased size of the corpus callosum
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: 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.

• 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. 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. 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

• Fetal Alcohol Spectrum Disorder
• Recommended maximum intake of alcoholic beverages
• Alex Burril's Guide to F.A.S.

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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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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