Clinical features of fetal alcohol spectrum disorders
Fetal alcohol spectrum disorder or FASD is a permanent disorder caused by maternal alcohol consumption during pregnancy and encompasses a wide spectrum of physical manifestations and alterations of the central nervous system.
Lemoine in 1968 and Ulleland in 1970 were the first to describe FASDs in the medical literature. In 1973, Jones and Smith coined the term Fetal Alcohol Syndrome to describe a subset of children exposed to alcohol, obtained from Dr. Ulleland's study and their own clinical records, who shared a common malformation pattern (Jones et al., 1973).
However, the definition of FASD has changed considerably since the 1970s. The condition has been broadly characterized by prenatal or postnatal growth deficiency, a range of minor facial and central nervous system (CNS) abnormalities. These observed physical, cognitive, and behavioral impairments are not dichotomous; they exist on a continuum from mild impairment to the most severe manifestations that correspond to a FASD diagnosis. This full range of outcomes observed among individuals with prenatal alcohol exposure has been termed fetal alcohol spectrum disorders (FASDs). FASDs are the leading known cause of intellectual disability or developmental disabilities in the Western world, and tragically, they are entirely preventable.
What is TEAF?
Fetal Alcohol Spectrum Disorders (FASDs) is a term used to group a wide range of physical, mental, behavioral, and cognitive abnormalities that an individual may experience after being exposed to alcohol during pregnancy (i.e., during prenatal development). The most severe form within this spectrum is called Fetal Alcohol Syndrome (FAS).
Its characteristics can be divided into:
- Morphological malformations (especially craniofacial defects)
- Growth retardation
- Central nervous system alterations expressed mainly as cognitive, behavioral, socialization and learning alterations.
Neurological alterations in fetal alcohol spectrum syndrome
Clinical characteristics of FASD
Fetal alcohol syndrome (FAS) has validated clinical diagnostic criteria supported by scientific literature and various international institutions (WHO, DSM classification, Institute of Medicine (IOM), Canadian Medical Association). It allows for the inclusion of children with impairments resulting from prenatal alcohol exposure within the spectrum, where fetal alcohol syndrome (FAS) represents one extreme, with all its manifestations.
Currently, the use of the IOM criteria updated in 2016 is recommended (Hoyme et al., 2016). However, in general terms, FASD is clinically characterized by the presence of all or some of the following signs and symptoms:
- Craniofacial anomalies.
The main characteristics are a smooth philtrum (disappearance of the columella of the nose), a thin upper lip (disappearance of the characteristic Cupid's bow), and small palpebral fissures (eye openings). Reference charts with measurements in millimeters are available to determine whether these signs are normal or abnormal. - Growth retardation.
It is defined as having weight or height values below a minimum average value for age and sex (below the 10th percentile). Low weight is evident from birth. - Central nervous system disorders.
Prenatal exposure to alcohol damages brain development, leading to a series of abnormalities in the child, adolescent, and adult, which are mainly expressed at the behavioral and cognitive levels.
It can be assessed based on:
- Anatomical structure of the nervous system: they frequently present with microcephaly or abnormalities in the formation of different brain structures (hippocampus, corpus callosum, etc.)
- Altered neurological functioning with the onset of seizures, impairment of psychomotor development, impairment of motor skills, poor visuospatial coordination, behavioral disorders, aggressiveness, lack of impulse control, inattention and hyperactivity, mental retardation, learning problems, memory deficit, socialization problems, etc.
There are other clinical signs that may be associated with fetal alcohol syndrome such as, for example, heart problems, osteoarticular, ophthalmic and auditory disorders, kidney disorders, sleep disorders, etc.
Psychiatric manifestations of fetal alcohol spectrum disorders
Diagnostic subcategories of FASD
Within the symptomatic continuum of FASD, several diagnostic subcategories are included, among which are fetal alcohol syndrome (FAS), partial FAS, alcohol-related neurodevelopmental disorder (ARND), and alcohol-associated congenital malformations (ARBD).
- SAF : This is the most severe end of the spectrum, in which all the clinical characteristics or core symptoms defining the disorder are present (pattern of facial features, pre- or postnatal growth retardation, and evidence of central nervous system dysfunction).
- Partial APS : Children with partial APS do not exhibit all of the characteristics mentioned.
- ARND (alcohol-related neurodevelopmental disorder): These are disorders that do not present the aforementioned facial characteristics, but do exhibit the neurobehavioral deficits typical of FASD (diagnosis requires known alcohol consumption). These cases are more likely to go unnoticed or be misdiagnosed due to the absence of facial dysmorphism.
- ARBD (alcohol-related birth defects): These are specific major malformations that have been shown to be attributable to prenatal alcohol exposure.
It's important to remember that every child and adolescent is different, so they won't experience the same difficulties in all areas. Even with the same diagnosis, individuals with FASD can be very different and present varying degrees of impairment. Therefore, an evaluation by a multidisciplinary team is necessary.
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