Course:KIN366/ConceptLibrary/Fetal Alcohol Syndrome

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KIN 366
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Instructor: Dr. Shannon S. D. Bredin
Email: shannon.bredin@ubc.ca
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Fetal alcohol syndrome (FAS) is a pattern of permanent birth defects that can result from the consumption of alcohol by mothers during pregnancy (Sokol et al., 2003). FAS is currently categorized under the severe end of Fetal Alcohol Spectrum Disorder (FASD), an umbrella term describing disabilities, impairments, and diagnoses resulting from gestational alcohol exposure(Sokol et al., 2003). To be clinically diagnosed with FAS, deficits must be seen in growth, central nervous system and head/ facial development (Checky, 2000).

History

For centuries the dangers associated with prenatal alcohol consumption have been suspected (BC Ministry of Education, 1996). However it was not until 1973 that Drs. Jones and Smith introduced the term Fetal Alcohol Syndrome (Alfredo et al., 2006). It became apparent that a group of children who had been subjected to large quantities of alcohol during gestation shared many matching characteristics. These characteristics are now considered the symptoms of FAS (Alfredo et al., 2006). British Columbia was the first of the Canadian provinces to report cases, starting in the late 1970s (BC Ministry of Education, 1996).

Etiology

Alcohol consumption during pregnancy is the key factor for the development of FAS (Applebaum, 1995). When a pregnant woman consumes alcohol it enters the bloodstream, crossing the placental barrier and therefore entering into the developing fetus’ body (Boston Children’s Hospital, 2014). Due to the immature state of the fetus’ liver, alcohol is not as easily metabolized and remains in high levels for a longer duration (Applebaum, 1995). High concentrations of alcohol in the fetus can prevent vital organs from receiving enough oxygen and nutrients (O’leary, 2004). This may result in fetal stunting of height and weight, head and facial abnormalities, and central nervous system damage (Checky, 2000).

Fetal development happens in stages. Consequently, the stage of development of the fetus at the time of exposure will influence the range and severity of FAS symptoms (O’leary, 2004). During a woman’s first trimester, the initial 12 weeks of pregnancy, impaired growth and damage to the fetus’ organs, along with deficits in facial formation, are most evident (Applebaum, 1995). Moreover, the first 8 weeks give rise to the nervous system, and damage to the brain is most prominent at 15-25 days. Increased rates of spontaneous abortion are most prevalent with alcohol ingestion during the second trimester (Applebaum, 1995). During the last stages of development, the embryo has a second growth spurt occurring in the final two months of pregnancy where it is more susceptible to the effects of alcohol (O’leary, 2004).


Risk Factors

Alcohol consumed by the mother during pregnancy is the primary determinant of a child developing FAS and other related disorders. However, factors such as the “pattern and quantity of alcohol consumption, timing of intake, the stage of development of the fetus at the time of exposure, and socio-behavioural risk factors” (O’leary, 2004, pg.3), have been found to affect the development of the fetus as well. The maternal age, race, genetic composition, and socioeconomic status of the mother influence the development of FAS (Sokol et al., 2003).

Alcohol Consumption

No precise threshold has been established in regards to how much alcohol a women can safely consume during their pregnancy. For non-pregnant women, light drinking is defined as 1.2 drinks per day, moderate drinking as 2.2 drinks per day, and heavy drinking as > 3.5 drinks per day (Sokol et al., 2003). Previous research supported the notion that children were at risk for harmful developmental effects if they were exposed to heavier drinking during their prenatal period (Sokol et al., 2003). However, negative developmental outcomes have been seen in children when exposed to small amounts of alcohol during prenatal development; current research has demonstrated that pregnant mothers can potentially harm their fetus by drinking an average of more than 1 drink, or 0.5oz, per day (Sokol et al., 2003) (Guerri et al., 1998)

Maternal Age

The literature suggests that the maternal age of the mother may be an associated risk factor for FAS. The likelihood that a child has a functional impairment associated with FAS increases 2-5 times if the mother consumes alcohol during her pregnancy and is 30 years of age or older (O’leary, 2004).

Race, socio-economic status, and genetic factors

The variable of race, genetics, and socio-economic status (SES) of mother’s who are chronic alcoholics impact the incidence rate of FAS developing in their child as well. The mother’s culture, which influences drinking patterns, amount of alcohol consumed in one sitting, and diet, is associated with the racial differences seen in the frequency of FAS (O’leary, 2004). Also, the SES of the mother during her pregnancy period contributes to the incidence rate of FAS developing in the fetus. Mothers of low SES are more likely to have poor nutrition and psychological stress, both of which increase the negative impact of alcohol on fetal development (O’leary, 2004). Genetics, in tandem with the SES and race of the mother, influence the prevalence of FAS (O’leary, 2004). For example, Native Americans have a higher average incidence of FAS per births in the United States because their cultural and household structure often influence their drinking patterns, leading to higher rates of alcohol consumption (Applebaum, 1995).

Diagnosis

No objective testing has been established in order to diagnose FAS. The diagnosis relies on the presence of certain physical abnormalities associated with the syndrome in conjunction with self-reported alcohol consumption during pregnancy and conception (O’leary, 2004). According to O’Leary (2004), the key characteristics to determine an FAS diagnosis are:

Growth Retardation

•Prenatal growth deficiency - decreased birth weight for gestational age

•Postnatal growth deficiency - lack of catch-up growth in spite of adequate nutrition

• Low weight to height ratio


Characteristic facial features

•Short palpebral fissures

•Maxiliary hypoplasia

•Thin upper lip

•Flattened philtrum (an absent or elongated groove between the upper lip and nose)


Central nervous system (CNS) anomalies or dysfunction

•Microcephaly - or other structural brain abnormalities with no significant catch-up through early childhood

•Developmental delay - social and motor performance related to mental, not chronological age

•Intellectual disability

• Neonatal problems including irritability and feeding difficulties (p. 1)


Other birth defect syndromes can be ruled out if an abnormality is found in each of the three main categories (O’leary, 2004). However, a history of preconception alcohol consumption is required in order to conclusively diagnose FAS (O’leary, 2004). This is often difficult to obtain because the mother may deny alcohol use, under/ over-report consumption, or not recall previous alcohol intake (O’leary, 2005).

Four diagnostic tools have been established to assist with FAS diagnosis: 4-digit code (Astley et al., 2000), the National Task Force/ CDC (Olsen et al., 2005), the Canadian Guidelines (Chudley et al., 2005), and the Revised IOM (Hoyme et al., 2005). Although there is minor variability between each diagnostic tool, all of them rely on deficits in three major areas: prenatal and/ or postnatal growth, the central nervous system, and characteristic facial irregularities (Riley et al., 2011).


Effects

The effects of FAS are numerous and lifelong. Deficits can be seen in physical, neurological, intellectual, social and behavioral development (Checky, 2000).

Physical

Physical effects include the common facial abnormalities (microcephaly, short palpebral fissures, an underdeveloped philtrum and a thin upper lip), issues with eyesight (strabismus, optic nerve hypoplasia, and posterior haze of the cornea), hearing deficits, organ malformation and dysfunction (29-50% of FAS cases have congenital heart disease), and musculoskeletal abnormalities (Checky, 2000; Lewis & Woods, 1994; Abdelrahman & Conn, 2004; Church & Gerkin, 1988).

Neurological

The most significant disability of FAS is brain dysfunction (First Nations and Inuit Health Committee and Canadian Paediatric Society, 2002). Alcohol consumption affects the fetus’ corpus callosum, basal ganglia, cerebellum and frontal lobes (Checky, 2000). The numerous disorders associated with FAS are due to damage of these structures. Learning disabilities, speech and memory deficits, decreased gross and fine motor control, and inability to regulate social and emotional functioning can all be present (Checky, 2000).

Intellectual

Children with FAS can show a dramatic deficit in terms of intellectual functioning. The average IQ of a child with FAS is 20 to 35 below the average child (Checky, 2000). One study found that 60% of participants with FAS had IQ levels more than 2 standard deviations below the mean (Herman, Pytkowicz Striessguth, Smith, 1978). Fetal alcohol syndrome is the leading cause of preventable mental retardation, which severely limits intellectual functioning (Sebastian, 2013). Other sources state that about 15 percent of individuals with FAS have an IQ lower than 70. However, the centers for disease control and prevention states that most individuals with FAS fall in the average to above average range (Myers, 2004).

Social/Behavioural

Children with FAS show lack of inhibition and impulse control (O’Leary, 2004). They are often unable to regulate mood and lack the ability to recognize social cues and use social judgment (O’Leary, 2004). Studies show that around 70% of children with FAS are hyperactive (Checky, 2000). FAS often reduces the individuals ability to create meaningful and lasting relationships (Checky, 2000).

Prevalence

Approximately half of all Canadian and American women drink socially and half of all pregnancies are unplanned (Koren et al., 2003). Therefore, an estimated quarter of newborn infants are exposed to alcohol during their gestational period.

The frequency of global FAS cases are not declining despite prevention efforts (Itthagarun et al., 2007). From 1995 to 1997 FAS rates were 0.3-1.5 per 1000 live births (Itthagarun et al., 2007). Current data estimates that approximately 1 to 1.5 cases of FAS emerge per 1000 live births (Burd et al., 2003). The annual FAS birth total in the United States would be 39,000 per year in the United States if 1 FAS case per 1000 live births were found. This suggests that the total number of affected people (both children and adults) would exceed 2.6 million (Burd et al., 2003).

Mortality rates from FAS and other related disorders in the United States are approximately 6% or 2,100-2,300 deaths per year (Burd et al., 2003). The prevalence rates of FAS highlight the disorder as an important preventable cause of global morbidity and mortality which is why it must be addressed appropriately.

Costs

The literature estimates that the annual cost of FAS and related disorders in the United States range from $74.6 million to $9.7billion dollars per year (Lupton et al., 2004). These costs “include neonatal care; management of developmental delays and birth defects; special needs education; developmental disabilities services; alcohol and drug abuse treatment; mental health services; health care costs; and supported living costs” (Burd et al., 2003, pg. 682). Research has also looked at the lifetime cost of care per FAS case and calculated an approximate total of US$1.4 million for every individual with FAS (Burd et al., 2003). Recent data has demonstrated the high economic costs associated with FAS, suggesting that funding for prevention of the syndrome should be made a priority (Burd et al., 2003).

Prevention

FAS has been identified as the foremost preventable, non-genetic cause of intellectual impairment across the globe (O’leary, 2004). The disorder can be entirely prevented if the woman does not ingest any alcohol immediately before conception and throughout pregnancy (Hankin, 2002). Presently, patient education is the most effective form of prevention for FAS (Applebaum, 1995). In 1993, the American Academy of Pediatrics established eight recommendations for education at all levels in order to promote preventative measures of the syndrome:


1. Abstinence from alcohol during pregnancy or while planning a pregnancy

2. Education of women prior to and during child-birth years

3. Curriculum inclusion from elementary to postsecondary and in adult learning centers

4. Health professionals caring for women and children should increase their own awareness

5. Increase awareness of prenatal alcohol exposure as a cause of birth defects and help prevent adverse fetal outcomes in future pregnancies

6. Referral of infants and children presumed to have FAS to developmental pediatricians

7. Federal legislation requiring a health/ safety message in all print and broadcast advertising of alcohol; and

8. State legislation making information available at marriage-licensing bureaus and other appropriate public places including those that sell alcohol (Applebaum, 1995, pg. 33)


Sokol and colleagues have examined FAS prevention programs and state that “universal efforts (broad public health measures) to prevent prenatal alcohol exposure have met with limited success” (2003, pg 2998). Data which analyzes the success of FAS prevention programs needs to be further developed in order to create effective preventative programs; further research may help clinicians establish the best approaches for preventing FAS (Hankin, 2002).

Government Resources: A Canadian Perspective

A significant amount of FAS research has been conducted in the United States. However, Canada has begun to address the issue as well. Health Canada has developed several projects in the past decade with the purpose of addressing prevalence rates of FAS (Health Canada, 2015). In 2003, the FASD: A Framework for Action was released; the guide focuses on the “development and implementation of collaborative efforts to address the issues associated with FAS” (Health Canada, 2015). Similarly, in 2005, the Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis was both published and made available to the public (Health Canada, 2015). These resources allowed for diagnostic guidelines and tools to be administered to health care providers in order to facilitate early assessments of FAS (Health Canada, 2015).

Additionally, Health Canada has a First Nations and Inuit Health Branch which “provides community-based programming to reduce FAS births and improve the quality of life for those affected by FAS, including:”


• training for community health workers and early childhood educators to increase community awareness;

• helping communities develop local plans to reduce FASD; and

• supporting mentoring projects that pair pregnant at-risk women with community members who have had similar experiences (Health Canada, 2015)


The Public Health Agency of Canada has also helped fund other FAS prevention initiatives: The FAS/Eout project and“Let’s Talk FASD” guidelines.

Motor Deficits

Evidence has shown that infants with FAS experience motor abnormalities (Harris et al., 1993). These include body tremors, excessive hand to mouth activity, decreased total body movements and more turning of the head to the left (Harris et al., 1993). These abnormalities and delays are not thought to be caused by the postnatal environment, but are caused by prenatal, in utero alcohol exposure (Harris et al., 1993). One study showed that children with FAS between 3 and 57 months of age had low performance on motor tasks, displaying delayed motor development (Harris et al., 1993). Motor delays have been seen from birth to 18 years of age with individuals with FAS (Harris et al., 1993).

Infants

Six gross motor milestones listed by the World Health Organization that should be achieved before the age of 18 months are: sitting without support (4-9 months), Standing with assistance (5-11 months) hands and knee crawling (5-14 months), walking with assistance (6-14 months), standing alone (6.5-17 months) and walking alone (8-18months) (World Health Organization, 2014). For infants with FAS they often experience delays in rolling over, crawling and walking (N.O.F.A.S, n.d.) FAS affects muscle tone, therefore the strength required to perform these skills may not be developed yet. (BC Ministry of Education, 1996). Infants have been shown to have weak grasp, tremulousness, and low eye hand coordination (Harris et al., 1993). Infants with FAS will be closer to their mental age than their chronological age, in terms of motor development (Harris et al., 1993).

Toddlers

By 18 months, a child should be able to run stiffly (falling often), position themselves onto chairs of appropriate height, walk up stairs with minimal help, and use a spoon and cup with help (Mannheim, n.d.). By 2 years, children should be able to kick a ball while maintaining balance, pick objects up without losing balance, jump in place and run with improved coordination (Kaneshiro, Mannheim, & Zieve, n.d.). By 3 years of age children should be able to climb well, run easily, pedal a tricycle and walk up and down stairs one foot at a time (Centers for Disease Control and Prevention, 2012). Toddlers with FAS show continued delays in motor development (N.O.F.A.S, n.d.). This is paired with hyperactivity and easy distraction, continued muscle tone deficits and lack of balance/coordination (N.O.F.A.S, n.d.; BC Ministry of Education, 1996; O’Leary, 2004). These problems can affect many of the above skills.

School Age

With normal motor development, school aged children should begin playing in team games, increase skills with balls (using smaller balls), show more abilities in skill games such as jump rope and hopscotch, ride a bike without training wheels and run up and down stairs (Children’s Therapy and Family Resource Centre, 2011). A delay in movement and activities that require coordination and balance can be seen. Children with FAS may face challenges when it comes time to ride a bike, run, play ball games and skate (Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009). Many gross motor deficits seen in young children with FAS can decrease with age, while fine motor deficits remain prominent (Harris et al., 1993). However, deficits in gross motor coordination can be seen (Harris et al., 1993). Children with FAS have been shown to score lower on tests assessing control of head, trunk, lower extremities, and locomotion (Harris et al., 1993). These results were particularly clear in tests involving balance (Harris et al., 1993). A study on FAS and crude gross motor coordination showed clear deficits in jumping, coordination and balance tasks (Harris et al., 1993). Another test showed notable deficits in walking for children with FAS, specifically; problems were seen in tandem walking, clumsy gait and wide based gait (Harris et al., 1993). Also present were “kinetic tremors, dysdiadochokinesus, dysathria, and axial ataxia” (Harris et al., 1993, p. 7).

FAS Effects on Fundamental Movement Skills

According to Physical and Health Education Canada there are 12 motor skills that all children should develop during their primary school years. These are: Dodge, kick, hop, dribble, skip, throw, log roll, catch, stork stand, run, jump and strike (2014). Many children with FAS have significant deficits when it comes to their fine and gross motor skills (BC Ministry of Education, 1996). It is common for a child with FAS to have difficulty with coordination and balance (O’Leary, 2004). They often have poor small and large muscle tone, poor eye-hand coordination, difficulty interpreting sensory input from visual and auditory stimuli and experience physical clumsiness (BC Ministry of Education, 1996). These deficits could make it challenging for children with FAS to learn and master their fundamental movement skills. Poor muscle tone can effect the development of hopping, kicking, throwing, running, jumping, stork stand skipping, and striking. Poor eye hand coordination can effect dribbling, throwing, catching, and striking. Poor overall coordination and balance can effect dodging, kicking, hoping, skipping, throwing, stork stand, running, jumping, catching, and striking. Studies have provided evidence showing clear deficits in skills related to those listed above (Harris et al., 1993). These skills included jumping repetitively with feet together, feet moving in and out, feet and arms moving synchronously, skipping with arms not synchronized, and skipping with arms and legs in a skiing motion (Harris et al., 1993). Children with FAS can still learn these skills but their development is delayed (BC Ministry of Education, 1996). Choosing appropriate goals and activities can be beneficial for this process (BC Ministry of Education, 1996).

Practical Application

How to deal with FAS

There is no cure for FAS (Myers, 2004). However there are resources and services that can be implemented to help individuals deal with the effects of FAS. The national organization of Fetal alcohol syndrome (NOFAS), states that “treatment should focus on establishing healthy parent/child relationships, motor and language development and sensory processing development. Medical and nutritional needs should be monitored as well." (Myers, 2004, para. 14). Early diagnosis is crucial although difficult, and incorporating the help of health care professionals and services (health practioners, physical therapists, occupational therapists, speech therapists, etc.) in early childhood can greatly increase the success of a productive life for the individual (Canadian Child Care Federation, 2003). Developmental delays are significant and implementing programs to help with physical and intellectual development can be helpful (Canadian Child Care Federation, 2003). Children with FAS often have a difficult time reaching gross motor developmental milestones such as rolling, crawling, sitting, standing, jumping, hopping and skipping. Physical and occupational therapy can facilitate these skills at a more appropriate age level for successful participation in playground games and activities (Myers, 2004, para. 25).

Strategies for Motor Delays

Balance

Due to physical abnormalities, postural deficits, hypotonicity, improper vestibular function and decreased coordination individuals with FAS may face impairments in balance (Myers, 2004). Strategies that facilitate postural balance such as sitting and balancing on a large ball can be helpful (Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009). Activities or games that incorporate weight shifting and balancing on one leg should be employed to establish proper equilibrium (Myers, 2004). Activities that incorporate jumping or hopping are good ways to practice these skills (BC Ministry of Education, 1996; Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009).

Coordination

Eye hand coordination as well as overall coordination can be affected by FAS (BC Ministry of Education, 1996). To work on eye hand coordination activities such as ball and bat play, blowing and popping bubbles, throwing balloons and beanbags are all helpful (Myers, 2004). To improve bilateral coordination, occupational therapists suggest wheelbarrow walks, bear crawls, jumping jacks, swimming and hopscotch (Myers, 2004). Throwing, hitting and kicking a ball at a target have also been suggested as helpful activities (Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009).

Poor Muscle Tone

Both hypotonia and hypertonia, as well as poor strength, can be seen in children with FAS (Myers, 2004; Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009). This may affect posture as well as movement patterns. (Myers, 2004; Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009). The use of exercise balls can aid in strengthening and coordinating musculature. Weight bearing activities are good for strengthening upper body musculature (Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009). Wall push-ups, wheelbarrow walking, monkey bars and climbing bars have all been suggested as useful strategies (Healthy Child Manitoba & Manitoba Education, Citizenship and Youth, 2009).

References

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• Physical & Health Education Canada. (2014). Fundamental movement skills. Retrieved from http://www.phecanada.ca/programs/physical-literacy/what-physical-literacy/fundamental-movement-skills

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• World Health Organization. (2014). Windows of achievement for six gross motor milestones [PDF file]. Retrieved from http://www.who.int/childgrowth/standards/mm_windows_graph.pdf?ua=1