Running head: NEUROPSYCHOLOGICAL FEATURES OF FAS-D

Neuropsychological Features of Fetal Alcohol Spectrum Disorder Jo Friesen University of Calgary

NEUROPSYCHOLOGICAL FEATURES OF FAS-D Neuropsychological Features of Fetal Alcohol Spectrum Disorders Fetal Alcohol Spectrum Disorders (FAS-D) are a group of disorders that are caused by alcohol exposure in utero. While not all individuals with pre-natal alcohol exposure develop a related disorder, those that do experience a wide range of outcomes, which is currently accounted for via a spectrum of disorders, which vary in severity (Goodlett, 2010). There are generally four disorders recognized under this umbrella: fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (PFAS), alcohol-related neurodevelopmental disorder (ARND) and alcohol-related birth defects (ARBD) (Kodituwakku, 2007; May et al., 2009; Rasmussen, 2005). Alcohol is a teratogenic compound and the harm it does to a developing fetus is related to the timing, duration and intensity of the exposure (Blackburn, Carpenter & Egerton, 2010). The severity and specific nature of the post-natal deficiencies is related to these pre-natal alcohol exposure factors, as well as other factors, including maternal characteristics (age, weight, nutrition) and post-natal environmental factors (Fast & Conroy, 2009). Despite their known etiology, fetal alcohol spectrum disorders remain one of the most common causes of developmental disabilities, and the leading preventable cause of mental retardation (Paley & OConnor, 2005; Rasmussen, 2005). Estimates put the prevalence of full FAS at between 1 and 4 per 1000 live births, however rates have been recorded as high as 40 out of 1000 in very high risk cultures (Blackburn, Carpenter & Egerton, 2010). The prevalence of FAS-D overall is much higher, with estimates putting it at as high as 1% (Rasmussen, 2005). One concern with the prevalence with this spectrum of disorders is the likelihood that published rates are low, due to a variety of factors (May et al., 2009). There must be confirmed maternal alcohol use during pregnancy in order for an alcohol-related diagnosis to be given, which is complicated by the stigma involved, the memory deficiencies that can accompany alcohol use and the difficulty of obtaining

NEUROPSYCHOLOGICAL FEATURES OF FAS-D accurate background history of many children (such as those in foster care) who are suspected of having one of these disorders (May et al., 2009). Another factor that may lead to under-estimation of prevalence rates is that PFAS, ARND and ARBD may be less likely to be diagnosed, as their symptoms may not be recognized for what they are, especially in the absence of facial dysmorphology (Mattson et al., 2010; May et al., 2009). The most severe of the fetal alcohol spectrum disorders, fetal alcohol syndrome, is characterized by three factors: pre- and post-natal growth deficiencies, facial dysmorphology and central nervous system dysfunction (Blackburn, Carpenter & Egerton, 2010). Growth deficiencies are determined primarily through height and weight comparisons, both at birth and through comparisons of developmental trajectories (Blackburn, Carpenter & Egerton, 2010). Facial dysmorphology includes a well-recognized cluster of anomalies, including short palperbral fissures, a thin upper lip, long philtrum, flattened mid-face, epicanthal folds around the eyes, a short upturned nose, asymmetrical ears and receding forehead and chin (Blackburn, Carpenter & Egerton, 2010). Central nervous system dysfunctions include a number of neuropsychological features, such as deficiencies in executive function, attention, memory, impulse control and language. For a diagnosis of FAS to be given, a certain threshold of criteria must be met in each category, and there must be confirmed pre-natal alcohol exposure. The initial means of identification of FAS is often related to noticeable physical anomalies, and is supported through IQ testing (Mattson et al., 2010). In a recent study, Mattson et al. (2010) set out to investigate if a specific battery of neuropsychological tests would be better able to distinguish between FAS and non-FAS cases, regardless of physical presentation. Their test battery focused on evaluating executive functioning, spatial reasoning and processing capacity, and their results showed a significantly high accuracy rate at detecting the disorder, without a physical exam (Mattson et al.,

NEUROPSYCHOLOGICAL FEATURES OF FAS-D 2010). While it is still early, these findings may offer hope for better early detection, and more accurate detection of other fetal alcohol spectrum disorders (Mattson et al., 2010). When full criteria for a diagnosis of FAS is not met, there may still be evidence of another disorder under the FAS-D umbrella. In the past, a diagnosis of Fetal Alcohol Effect used to be given in such a scenario, but now the more specific disorders of PFAS, ARBD and ARND are used (Rasmussen, 2005). In the majority of cases of pre-natal alcohol exposure, the full criteria of FAS is not met (Paley & OConnor, 2009), but significant behavioral and cognitive deficiencies may still be present (Goodlett, 2010). The full range of central nervous system dysfunction is seen even without any facial anomalies (Rasmussen, 2005) and it is important to note that the severity of impairment is unrelated to physical characteristics (Blackburn, Carpenter & Egerton, 2010). Each of the different diagnoses has different thresholds for criteria, but all require evidence of pre-natal alcohol exposure (May et al., 2009). Research has shown that although FAS is considered to be the disorder of highest severity, individuals who present with less than the full spectrum of criteria may in fact be more at risk (Fast & Conroy, 2009). This may be due to the likelihood of identification being lower, less support availability or less attention to needs being given when the presentation is not physically obvious (Paley & OConner, 2009). One of the challenges with this spectrum of disorders is identification. The complexity of the disorder, its heterogeneity, and the lack of standardized diagnostic criteria make it difficult to assess (May et al., 2009). The nature of the criteria which range from physiological signs to cognitive ones, generally require different types of expertise to diagnose, so a without a team approach, diagnosis may not be accurate, or possible (Rasmussen, 2005). Early identification leads to a better prognosis, as it allows for more effective intervention and the greater neuroplasticity of

NEUROPSYCHOLOGICAL FEATURES OF FAS-D the brain in early development may present an opportunity to actually remediate some damage (May et al., 2009; Paley & OConnor, 2009). A thorough understanding of the disorder is necessary not only for diagnosis, but for intervention and prognosis as well. The complexity of the disorder, and the different learning patterns of children with FAS-D, make it challenging for educators and parents to meet their needs, especially without special training and understanding of the specific nature of how the disorder manifests itself in each individual (Blackburn, Carpenter & Egerton, 2010). One hallmark of the disorder is, despite the standardized categories of symptoms, the heterogeneity of symptoms within those categories, particularly when it comes to central nervous system dysfunction. Lack of consensus on what constitutes core deficits add to the complexity, and makes research findings less generalizable, which leads educators and parents to rely on experience, rather than research, when working with children with an alcohol-related disorder (Kodituwakku, 2010). Research has shown that there are a broad range of central nervous system dysfunctions related to FAS-D, and while there are overall patterns in the types of deficiencies related to the disorder, there is no current method of predicting clusters of deficiencies in each individual (Blackburn, Carpenter & Egerton, 2010). Children with FAS-D often present with lower than average IQs, often in the mildly retarded to borderline range, and this is consistent across the FASD spectrum (Kodituwakku, 2007). Some children present with deficiencies in numerous areas, such as memory, attention, impulsivity and language development, while others have isolated deficiencies, and may in fact show strengths in some of the other areas. (Paley & OConner, 2009). Isolating and identifying specific deficits is a vital component in providing effective interventions (Paley & OConner, 2009). In order to best enable children with fetal alcohol spectrum disorders to

NEUROPSYCHOLOGICAL FEATURES OF FAS-D reach their full potential, it is important that we design interventions that take each individual's specific cognitive-behavioral profile into account (Kodituwakku, 2010). Three of the most common neuropsychological features related to FAS-D are deficiencies in attention, in memory (particularly working memory) and in language development. Each of these factors are inter-related, and it can be difficult to tease out both the specific, key deficits and the cause of those deficits, as many symptoms associated with FAS-D overlap with other nonalcohol related disorders, and are the result of causes beyond pre-natal alcohol exposure, such as genetics, environmental factors and family characteristics. Attention Deficits in attention is considered to be one of the key characteristics of FAS-D (Bjorkquist, Fryer, Reiss, Mattson & Riley, 2010; Kodituwakku, 2007) and there is evidence that the quantity of pre-natal alcohol exposure may be related to the severity of attentional deficits (Kodituwakku, 2007). Children with FAS-D often have difficulty with maintaining attention, response inhibition and shifting attention, especially during complex tasks (Kodituwakku, 2007). In comparison to children with ADHD (without FAS-D), they also demonstrate greater difficulty in learning new material and responding quickly to novel information, which suggests that the deficits related to FAS-D may be different than those associated with ADHD (Kodituwakku, 2007). Some of the attentional deficits can be traced to slower information processing speed and lower intellectual functioning, but not all of the differences are accounted for by these factors (Kodituwakku, 2007). Research into the nature of attentional deficits in children with FAS-D has looked into the effects of pre-natal alcohol exposure on the cingulate gyrus (Bjorkquist et al., 2010). Bjorkquist et al. (2010) investigated the link based on evidence that functions typically associated with the

NEUROPSYCHOLOGICAL FEATURES OF FAS-D cingulate gyrus, such as attention, emotional regulation and cognitive control, were deficits also associated with pre-natal alcohol exposure. In their research, Bjorkquist et al. found that individuals with pre-natal alcohol exposure showed reduced cingulate volume, particularly white matter volume, and that the reduced volume was beyond what could be accounted for due to smaller overall brain volume. Individuals with these reduced cingulate volumes consistently demonstrated poorer performance on both attention and working memory tasks, adding evidence to the link between pre-natal alcohol exposure effects on the cingulate gyrus and attentional deficits (Bjorkquist et al., 2010). Difficulties with attention in individuals with FAS-D can lead to a variety of associated challenges, especially without effective intervention. Attentional deficits are linked to poor school attendance, as well as drop-out and expulsion rates. (Fast & Conry, 2009). Youth with attentional deficits are also more likely to develop conduct disorder and experience legal difficulties (Fast & Conry, 2009). Research into interventions for attentional deficits has provided evidence that, unlike the limited effects of some domain specific interventions, effective support can lead to global gains across domains, in both the cognitive and behavioral realm (Kodituwakku, 2010). This may be in part due to the interaction of attention networks with other networks within the brain, as well as fact that attention is a key component of numerous cognitive skills (Kodituwakku, 2010). Developing consistent routines, creating learning environments with minimal distractions and teaching self-regulatory skills can all help to offer better long-term outcomes for individuals with attentional deficits related to FAS-D (Kodituwakku, 2010, Paley & OConner, 2009). Memory A second significant neuropsychological factor related to FAS-D is impairments with memory. Individuals with FAS-D may demonstrate slower processing speeds, and show deficits in

NEUROPSYCHOLOGICAL FEATURES OF FAS-D working memory and completion of complex cognitive tasks (Kodituwakku, 2007). They show impairment in explicit memory, but often have little difficulty with implicit memory (Blackburn, Carpenter & Egerton, 2010). There are also difficulties with delayed recall, but short-term recall is usually normal, a pattern that has been associated to damage to the right hippocampus (Kodituwakku, 2007). This association has let to research into the link between hippocampal damage and memory deficits, particularly as the hippocampus is suspected to be particularly vulnerability to the alcohol (Kodituwakku, 2007). Coles et al., (2011) found that the difficulty seems to be related to encoding, but not retrieving, which also indicates hippocampal involvement, and that pre-natal alcohol exposure may impede not only brain volume at birth, but age-related volume increases. More research is needed however, to investigate which on-going deficits are related solely to pre-natal alcohol exposure, and which may be related to other post-natal environmental factors (Coles et al., 2011). Deficits in memory are associated with other difficulties for individuals with FAS-D, including challenges with social development and executive functioning (Fast & Conroy, 2009). Individuals demonstrate an inability to learn from past mistakes, which can lead to behavioral, and even legal, difficulties (Fast & Conroy, 2009). They may often be considered dishonest, and care must be taken, especially with children and youth, to tease out whether their dishonesty is an intentional attempt to mislead, or related to failed memory or an attempt to hide memory deficits (Fast & Conroy, 2009). Individuals with FAS-D also show less use of semantic clustering, mnemonic devices, and other strategies that might aid recall (Coles et al., 2011). Training in the development of these strategies, along with the use of visual aids, cues, and breaking complex activities into small steps can help with memory deficits, as can opportunities for rehearsal and practice (Paley & OConner, 2009). Despite evidence of improved memory with intervention,

NEUROPSYCHOLOGICAL FEATURES OF FAS-D individuals with FAS-D seem to be limited in the amount of improvement that is attainable, and effective long-term support may need to go beyond strategy training and into coping and life management training (Paley & OConner, 2009). Language Development A third common deficit in individuals with FAS-D is language impairments. These individuals show deficits in both non-verbal and verbal fluency, as well as naming, word comprehension, grammar, semantics and pragmatics (Kodituwakku, 2007). Language deficits are more common in children with full FAS, and are linked to pre-natal alcohol exposure during the first trimester (Blackburn, Carpenter & Egerton, 2010; Kodituwakku, 2007). Some of the language difficulties, such as complex comprehension, making off-topic comments during conversation and processing oral instructions, may be linked to memory and processing speed deficits (Blackburn, Carpenter & Egerton, 2010). Of note, individuals with FAS-D often display a high quantity of language, which can hide the fact that their speech is simplistic and lacking in depth and quality, which in turn can delay identification of needs and intervention (Blackburn, Carpenter & Egerton, 2010). Most interventions regarding language deficits tend to be domain specific, such as language training, which while effective, does not usually translate to global gains for individuals with FAS-D (Kodituwakku, 2010). This enhances the need for specific understanding of deficits to know what to target, as well as illustrates an opportunity for other types of interventions. Paley & OConner (2009) recommend relationship based interventions, which are designed to not only enhance language development through modeling, practice and correction, but also provide social skill support and development. Conclusion

NEUROPSYCHOLOGICAL FEATURES OF FAS-D It is unfortunate in our modern society that an entirely preventable cause of developmental disabilities is still so prevalent. The misconceptions around pre-natal alcohol exposure, unexpected pregnancies and ignorance may serve as convenient excuses, but considering the life-long effects of FAS-D, the risks outweigh the justifications. Individuals with FAS-D are often left with impaired general intelligence, and life-long deficits in attention, learning and memory, as well as difficulties with general executive functioning (Bjorkquist et al., 2010). In addition to the primary physiological and neuropsychological effects of pre-natal alcohol exposure, individuals with FASD often face significant secondary disabilities, including social deficits, school failure, substance abuse problems, legal troubles, and an increased risk for other mental health problems (Kodituwakku, 2007; Paley & OConner, 2009). Then there are the environmental factors that come into play for a child with FAS-D, including challenges around home life, separation from family, parental mental health issues, poor social integration and the stigma attached to the range of deficits all of which can hinder the prognosis for these children (Bjorkquist et al., 2010). All of these factors demonstrate the need for awareness, understanding and effective identification and intervention, including services and support for caregivers (Paley & OConner, 2009). It is also important that we recognize and build on the strengths of these individuals both their individual strengths in areas such as music, art and athletics, and those commonly associated with FAS-D, including things such as high energy levels, gregarious personalities, fun-loving natures, caring temperaments and strong verbal fluency (Blackburn, Carpenter & Egerton, 2010). While the prevention of FAS-D would be an ideal goal, in the meantime it is important that we recognize the individual within the midst of this complex spectrum of disorders, and ensure that we work to understand and support the specific deficits, needs and strengths that each one presents.

NEUROPSYCHOLOGICAL FEATURES OF FAS-D

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