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FETAL ALCOHOL SPECTRUM DISORDER

Fetal Alcohol Spectrum Disorder

Pacific Northwest University of Health Sciences, School of Occupational Therapy

Ajaybir S. Kalket and Andrea Padilla

OTH 525 Human Capacities II

Dr. Wendell Nakamura

March 24, 2024

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Fetal Alcohol Spectrum Disorder: Clinical Review

Part 1: Overview of the Condition

General Description

Fetal alcohol spectrum disorder (FASD) refers to the broad spectrum of potential

outcomes experienced by individuals exposed to alcohol in utero, including a variety of physical,

cognitive, behavioral, and learning challenges that may affect them throughout their lives. It

serves as a collective term for conditions related to prenatal alcohol exposure, including fetal

alcohol syndrome (FAS), but is not itself a specific diagnosis (Bertrand et al., 2004). FASD

encompasses conditions caused by alcohol consumption during pregnancy, including FAS (the

most severe form), partial fetal alcohol syndrome (PFAS), disorders related to neurodevelopment

due to alcohol, and congenital disabilities linked to alcohol exposure (Bertrand et al., 2004). Any

child who is exposed to alcohol prenatally presents with growth retardation, facial

dysmorphology, central nervous system dysfunction, or neurobehavioral disabilities (Hoyme et

al., 2016). Genetic factors from both mother and fetus affect alcohol metabolism. Variants in the

alcohol dehydrogenase 1 (ADH1) gene enhance alcohol breakdown, reducing blood alcohol

levels. Increased GLI Zinc Finger 2 (GLI2) gene methylation, reducing its activity, has been

linked to FASD, confirmed by DNA studies in affected children (Popova et al., 2017).

Global Burden of Disease

Individuals starting to drink before age 18, who binge drink in their teens and continue

drinking during pregnancy, often have a lenient view towards alcohol use while pregnant. These

individuals are usually older, wealthier, more educated, smokers, and have partners who drink.

Environmental risk factors include experiencing abuse, social isolation (including living in

remote areas), partner violence, substance use within the family, and poverty during pregnancy
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(Esper & Furtado, 2014). The incidence and prevalence of FAS worldwide can vary significantly

due to differences in reporting practices, diagnostic criteria, and alcohol consumption patterns

across populations. Major structures of the central nervous system are affected by FASD,

including the hippocampus, cerebellum, basal ganglia, and corpus callosum. Not only are brain

structures affected by alcohol exposure, but also neurotransmitters, such as catecholamines,

indolamine, and gamma-aminobutyric acid (GABA; Sari et al., 2010).

The global prevalence of alcohol use during pregnancy is about 9.8% (Popova et al.,

2017). It is estimated that about one in every 67 women who consume alcohol during pregnancy

will deliver a child with FAS, which equates to about 119,000 children born with FAS

worldwide each year. The prevalence of FASD varies, with some of the highest rates reported in

parts of South Africa, where studies have found rates of FASD as high as 68-89 per 1000 school

children. In contrast, estimates in the United States and many European countries tend to be

lower but still significant, with estimates ranging from 2 to 7 cases of FAS per 1000 children

(Popova et al., 2017).

Health Disparities

In the United States, the occurrence of Fetal Alcohol Syndrome (FAS) is estimated to be

between 0.3 and 0.8 cases per 1,000 children, while globally, around 2.9 per 1,000(Amendah et

al., 2011). Fetal Alcohol Spectrum Disorders (FASD) show a higher prevalence, with about 33.5

cases per 1,000 children in the U.S. and 22.8 per 1,000 worldwide. Economically, it places a

heavy burden, as children with FAS on Medicaid face medical costs nine times higher than

unaffected peers, averaging $6,670 annually compared to $518 per year (Amendah et al., 2011).

There is limited evidence on the nonmedical costs associated with FASD. However, in the

existing research, experts pinpointed areas such as special education, residential care,
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involvement with the criminal justice system, economic losses from illness and early death, the

economic impact on caregivers, and non-monetary losses as factors contributing to the financial

strain caused by fetal alcohol spectrum disorder (FASD) in individuals (Greenmyer et al., 2018).

It is known that the prevalence among individuals with FASD is higher in women who

drink alcohol during their pregnancy. There are no clear gender differences among males and

females with FASD. However, Flannigan et al. (2023) examined gender-related differences in

individuals evaluated for fetal alcohol spectrum disorder in Canada. The authors stated that

Males were more likely to suffer from neurodevelopmental issues, while females had a greater

incidence of endocrine problems, as well as anxiety and disorders related to mood and

depression. On the other hand, males exhibited higher occurrences of attention deficit

hyperactivity disorder (ADHD), conduct disorder, and oppositional defiant disorder (Flannigian

et al., 2023).

Research also shows that there is a higher prevalence of FASD in impoverished

communities. For example, FASD is shown to be linked to poverty, addressing the importance of

understanding a community's economy to help lower its prevalence in impoverished

communities (Jordan et al., 2023). Narrowing down to specific populations, there is a higher

prevalence rate among certain populations, such as American Indians and other racial minority

groups (Williams et al., 2015). Furthermore, FASD rates vary by ethnicity within the U.S., being

less common among Hispanic children and more common among Native Americans and Alaska

Natives. FASD is often overlooked or incorrectly diagnosed, delaying essential support for

impacted children (Amendah et al., 2011).

Part II: Clinical Presentation

Signs and Symptoms

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The signs and symptoms of someone with FASD vary from person to person and can

range from mild to severe. Some signs and symptoms include low body weight, poor

coordination, hyperactive behavior, poor memory, learning disabilities, low IQ, poor reasoning

and judgment skills, problems with the heart, kidneys, or bones, shorter than average height,

small head size, vision or hearing problems, sleep and sucking problems as a baby, and abnormal

facial features, such as a smoothed philtrum (Centers for Disease Control and Prevention, 2022).

FASD is usually detected in children. Research suggests that FASD can be detected in newborns

when confirming prenatal exposure to alcohol. Some of these signs include a smooth philtrum, a

thin vermillion border of the upper lip, and short palpebral fissures (Patel et al., 2022). Other

earlier symptoms of FASD are growth failure in children, delayed developmental milestones,

poor sleep/wake cycles, and cognitive delays. (Diagnosis of Fetal Alcohol Syndrome (FAS),

2003).

FASD cannot be reversed. However, treatment can help manage some of the symptoms.

Many suggest early detection of FASD is important to help manage further complications. Even

though symptoms are manageable to a certain degree, mental deficiencies persist throughout the

individual's lifetime. Some helpful interventions with early detection include therapy which

helps the child's gait, speech, and social interactions. Early intervention services are also

available to help children learn valuable skills. Research shows that the earlier the symptoms are

found and treated the better the outcomes will be following specialized treatments (Patel et al.,

2022). There are not many studies on adults with FASD, however an article by Moore and Riley

(2015) suggested that adults have delayed brain maturation. However, some individuals have

improved executive function over time, which may be due to an increase in grey matter in the

brain.
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Neuropathophysiological

Neuroimaging studies have consistently shown that children with FAS and Partial Fetal

Alcohol Syndrome (PFAS) often have reduced volumes in their brains and heads. This finding is

supported by multiple researchers (Archibald et al., 2001; Mattson et al., 1996; Swayze et al.,

1997). These studies have highlighted a general reduction in size and specific changes in the

brain's structure, particularly in the frontal lobes. These alterations align with neuropsychological

findings of deficits in attention, working memory, and executive functions, which are typically

managed by the brain's frontal regions. Moreover, a significant study pointed out a decrease in

the volume of the ventral frontal lobes, especially on the left side, while the larger dorsal frontal

areas remained relatively unaffected (Sowell et al., 2002a). Further investigations into FASD

have revealed an increase in the cortical thickness in the right ventral and inferolateral frontal

lobes (Sowell et al., 2008), suggesting a link to facial dysmorphology. Additionally, an increase

in thickness was observed in the parietal lobes on both sides, indicating a possible surplus of

gray matter in these areas compared to children who were not exposed to alcohol prenatally

(Sowell et al., 2008b).

Studies have found a reduction in the volume of the basal ganglia, a critical brain

structure involved in motor control and learning, even after adjusting for overall brain size

reduction (Archibald et al., 2001; Mattson et al., 1996). Within the basal ganglia, the caudate

nucleus, which plays a role in learning, adaptability, and inhibiting behaviors, was also

significantly reduced in size in children diagnosed with FASD (Cortese et al., 2006).

Furthermore, the diencephalon, encompassing the thalamus and hypothalamus, was found to

have decreased volumes (Mattson et al., 1996).

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The cerebellum is recognized for its involvement in not only movement but also attention,

executive functions, and other complex cognitive tasks (Strick et al., 2009). O’Hare et al. (2005)

studied the cerebellar vermis, a slender area that connects the cerebellum's right and left

hemispheres, in individuals with FASD. They discovered that in those with FASD, there were

notable changes in the size and positioning of the vermis, particularly with the anterior vermis

being displaced downwards and backward. These alterations were linked to challenges in verbal

learning and visuospatial memory.

Numerous abnormalities in the development of the corpus callosum (CC), such as its

complete absence (agenesis), reduced volume in specific areas, and various developmental

irregularities, have been reported (Riley et al., 1995; Swayze et al., 1997). Bookstein et al.,

(2001), found that children with FASD exhibit a significantly higher variation in the shape of the

CC compared to children who were not exposed. This variation is considered a key feature

distinguishing them. Additionally, individuals with FASD showed inferior performance on

verbal learning tests when compared to their non-FASD counterparts. The study highlighted a

correlation between verbal learning abilities and the positioning of the CC in those with FASD,

noting that anterior displacement of the CC was associated with poor verbal learning outcomes

(Sowell et al., 2001).

Individuals with FASD showed fewer correct responses, longer latencies during correct

responses, and higher rates of nonresponding, indicating affected spatial working memory.

(Malisza et al., 2005). A study suggests that prefrontal cortical regions are involved in inhibitory

control and that subcortical modulation of response inhibition occurs (via frontal-subcortical

loops that link the basal ganglia to the frontal lobes (Streissguth et al., 2004).
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Motor skills are an integral part of an individual's life. In childhood Motor skills are important in

play activities. In adulthood, motor skills are essential with tasks that involve walking, running,

throwing and maintaining balance. A meta-analysis by Lucas et al. (2014), demonstrated that

gross motor skills are impacted in an individual with FASD. The study also assessed gross motor

deficits in children with FASD and heavy to moderate levels of alcohol. They discovered that

deficits in gross motor skills were found in balance, coordination, and ball skills. Fine motor

skills are most affected by FASD, including those who were exposed to low levels of alcohol.

Visual-motor integration is a complex fine motor skill that is more frequently impaired than

basic fine motor skills such as grip and strength (Doney et al., 2014).

Individuals with FASD have deficits in processing skills. According to Kodituwakku

(2009), research has shown that individuals present deficits in executive functioning skills,

particularly when keeping information in mind and using it for tasks that require problem-

solving, planning, and thinking. Domains that were studied were language, visual perception,

memory and learning, social functioning, and number processing. The findings concluded that

individuals with FASDs had decreased performance in these areas in relation to higher-order

cognitive tasks.

Children with FASD face significant social challenges, including difficulties in

understanding social cues and processing social information. These challenges lead to issues in

solving social problems, interpreting social situations correctly, and forming and sustaining

relationships. Due to these social deficits, individuals with FASD are at a higher risk of

exploitation and peer pressure, which can increase their likelihood of encountering the criminal

justice system (Parkinson & McLean, 2013).

Medical Management and Alternative Therapies

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Pharmacological interventions for FASD are widely used and include medications, such

as cognitive enhancers, to treat core impairments and medications to treat comorbidities,

including ADHD, anxiety, and arousal or sleep disorders (Ritfeld et al., 2022). The medication

also includes stimulants, antidepressants, neuroleptics, and anti-anxiety drugs (CDC, 2023).

Behavioral and educational therapies play a crucial role in the treatment of children with

FASDs. Programs such as Good Buddies, a friendship training for children with FASDs, focus

on teaching appropriate social skills. The Families Moving Forward (FMF) program offers

support to families facing challenging behaviors associated with FASDs. The Math Interactive

Learning Experience (MILE) program is available to assist with difficulties in mathematics.

Additionally, the Parents and Children Together (PACT) program enhances self-regulation and

executive function through neurocognitive habilitation (CDC, 2023).

Training programs for parents have proven to be effective in informing them about their

child's disability and in providing strategies to teach their child necessary skills, as well as

assisting in managing symptoms related to FASD. For various disabilities, injuries, or medical

conditions, for FASD individuals, a range of unproven therapies often gains attention through

word-of-mouth, known as alternative treatments. These include techniques such as Biofeedback,

Auditory Training, Relaxation Therapy, Visual Imagery, and Meditation, which are particularly

beneficial for managing sleep issues and anxiety. Creative Arts Therapy, Yoga, and regular

exercise, Acupuncture and Acupressure, Massage, Reiki, and other energy healing methods, the

use of Vitamins, Herbal Supplements, Homeopathy, and Animal-Assisted Therapy are included

among these alternative approaches (CDC, 2023).

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