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Fetal Alcohol Spectrum Disorder (FASD) is the umbrella term to describe the range and varying degrees of physical, cognitive and neurobehavioural effects or conditions that can occur in a child as a result of a woman’s drinking during pregnancy (CDC 2005; Streissguth et al. 2004; Streissguth & O’Malley 2000). FASD is a “descriptive term rather than a diagnosis” (Zadunayski, et al. 2006). “Four diagnostic categories within the continuum of FASD” (May, et al. 2009), have been identified by the Institute for Medicine, “which represent the spectrum of damage from mild to severe. The specific diagnosis from most severe to less severe include: Fetal Alcohol Syndrome (FAS), partial FAS (PFAS) and alcohol-related neurodevelopmental disorders (ARND), and alcohol-related birth defects (ARBD)” (IOM 1996; Streissguth & O’Malley 2000; Zadunayski, et al. 2006). In the Western world, FAS “is the leading known preventable cause of intellectual disabilities” (Nuñez, Roussotte & Sowell n/d) and is a growing public health concern worldwide (WHO 1994).

FASD specific diagnostic guidelines that have been published include the Institute of Medicine (IOM) guidelines in 1996 (IOM 1996), the 4-Digit Code in 1997 (Clarren & Astley 1997), the Centers for Disease Control (CDC) FAS guidelines in 2004 (Bertrand, et al. 2004), and the Hoyme FASD guidelines in 2005 (Hoyme, et al. 2005). Each of the different FASD diagnostic guidelines or systems has strengths and limitations and raises questions concerning the clinical features that define each diagnosis on the FASD continuum (Astley 2011).

While each guideline requires a complete FASD evaluation to include an assessment of “four key diagnostic features” (Benz, Rasmussen, & Andre 2009) of FAS - viz. (i) growth deficiency, (ii) facial features, (iii) central nervous system (CNS) damage and,

52 (iv) prenatal alcohol exposure - there are differences among the systems that lead to variations in definitions and diagnostic criteria across the FASD continuum.

a. Growth deficiency

The different guidelines provide differing criteria for what constitutes growth deficiency for a FASD diagnosis, but children with FAS are typically significantly below average height and weight for their age (Chudley, et al. 2005; Hoyme, et al. 2005).

b. Facial features

Several specific facial abnormalities, that may be absent or mild in other FASD conditions, are visible in FAS children (Astley 2006). To meet the criteria for a FAS diagnosis, all of the diagnostic guidelines or systems require an individual to display three FAS facial features: (i) a smooth philtrum (flattened groove between the nose and upper lip), (ii) thin upper lips and (iii) shortened eye width (Chudley, et al. 2005; Hoyme, et al. 2005; IOM 1996).

c. Central nervous system (CNS) damage

Evidence of CNS damage may be “structural, neurologic and functional” (IOM 1996:72). Structural irregularities of the brain are observable through medical imaging techniques and may include microcephaly i.e. a smaller than normal head size (IOM 1996;O’Leary 2002). Other structural impairments must be observed through medical imaging techniques. If structural anomalies are not observed then neurological irregularities are assessed (IOM 1996). Functional irregularities are assessed when structural or neurological irregularities are not observed (Astley 2006; Chudley, et al 2005; IOM 1996). Various CNS domains have been identified that can determine a FASD diagnosis, including: general cognitive deficits (e.g. IQ), deviations in

53 executive functioning, memory, language, motor and social skills (Astley 2006; Hoyme, et al. 2005; IOM 1996).

d. Prenatal alcohol exposure

To meet the criteria for FAS, all of the above “three categories of problems must be present and non-alcohol related causes of the anomalies must be excluded” (Rendall- Mkosi, et al. 2008). Where possible, there must be confirmation of maternal alcohol consumption directly from the mother or a reliable collateral source e.g. health records. A “report of maternal drinking at the time of the pregnancy can help to confirm the diagnosis, but is not necessary. Whilst confirmation of maternal drinking is preferable, in a situation where it is impossible to obtain this information (for example if the mother is deceased and collateral information is not available) a definitive diagnosis of FAS can be made without confirmation of maternal drinking” (Rendall-Mkosi, et al. 2008).

The presence of the highly specific FAS facial features confirms a FAS diagnosis and distinguishes it from less severe conditions on the spectrum of FASD. Therefore, even in the absence of confirmed maternal drinking in pregnancy, the presence of the facial features can validate a FAS diagnosis. This is because only children with FAS have the distinct dysmorphic facial characteristics, caused by prenatal alcohol exposure. For a diagnosis of Partial FAS (PFAS) “affected children must display typical facial features and abnormalities of either growth or CNS structure (or function). As in the case of FAS the diagnosis of PFAS can also be made without evidence of maternal alcohol use, however in both cases the clinical records classification should reflect this. Damage is present at the same level as FAS” (Rendall-Mkosi, et al. 2008), so while individuals with PFAS may look less like FAS, they have the same functional disabilities as someone with FAS.

54 Children diagnosed with alcohol-related neurodevelopmental disorder (ARND) display few or none of the FAS facial features and their growth and height may range from normal to minimally deficient, but they display significant CNS damage (Sampson, et al. 1997; Stratton, Howe & Battaglia 1996). An individual diagnosed with ARBD presents with a range of congenital abnormalities that are associated with prenatal alcohol exposure but has not the key features of FASD (IOM 1996). “A diagnosis of ARBD or ARND can only be made if there was confirmed heavy maternal alcohol exposure” (Rendall-Mkosi, et al. 2008).

The highly specific FAS facial phenotype makes FAS distinguishable from ARNB and ARBD. In the absence of the specific FAS facial features an individual’s outcome cannot be linked to prenatal alcohol exposure and FAS becomes indistinguishable from ARNB and ARBD. A particular problem with the diagnostic terms ARND and ARBD is that they imply that a person’s condition was caused by a woman’s drinking during pregnancy. But this presumption is problematic “because CNS abnormalities are not specific to (caused only by) prenatal alcohol exposure. There are many other known or unknown risk factors that may be partly or even fully responsible for the patient’s outcome. In the absence of the FAS facial phenotype, current medical technology has no ability to confirm or rule-out the etiologic role of alcohol in an individual patient” (Astley 2011:18). So while technology may reveal that there is damage it cannot prove or disprove that maternal drinking is the cause of the damage. When a FASD diagnosis is made the child and the birth mother - are directly implicated (Astley 2011). A positive diagnosis implies that the child’s mother possibly drank during pregnancy. These are however bold conclusions to make particularly in light of diagnostic challenges, and when a few of the FAS characteristics “are not specific to prenatal alcohol exposure and often manifest

55 differently across the lifespan” (Astley 2011:3). For example disorders, such as Williams-Beuren syndrome (WBS), also known as Williams syndrome (WS), have some symptoms like FAS (Martens, Wilson & Reutens 2008; Pober 2010). Williams syndrome is a rare genetic neurodevelopmental disorder characterized by among other features: a distinctive, "elfin" facial appearance, along with a low nasal bridge; developmental delay and cardiovascular problems that may be present at birth or may develop later in life (Martens, Wilson & Reutens 2008; Pober 2010).

4. Disabilities and Disorders in Individuals Exposed to