Washington Lip-philtrum Guide

[Bonifacia Cramm]

Alcoholuse is common in Australian women, with surveys suggesting that around 90% of 18-45-year-olds have had a drink in the last year and that around 39% of these are unaware of the health implications of drinking on the developing fetus. Fetal Alcohol Syndrome is a leading cause of preventable intellectual disability. The Telethon Kids Institute has recently developed an Australian diagnostic guide to help clinicians make the diagnosis of Fetal Alcohol Syndrome Disorders. In this post, we cover some of the basics of Fetal Alcohol Syndrome and provide resources for those wanting to learn more.

The harms of alcohol, the most prevalent of recreational drugs, have been known since records began, though the true risks to pregnant mothers were probably downplayed in the earlier parts of the 20th century following the repeal of the Volstead Act and the end of Prohibition.

The rate of FASD has been estimated as 2.76 per 1000 among indigenous Australians and 0.02 per 1000 births in non-Aboriginal and Torres Strait Australians. This most likely under-represents the number of cases. Maternal alcohol intake can vary during the course of pregnancy, and unless data is collected prospectively, an accurate determination of consumption is challenging. Many women will have already imbibed before they even knew they were pregnant.

There is also a lack of physician awareness of the condition. This also leads to underdiagnosis. At present, there is no Australian national reporting standard. Published rates of FAS are lower than those from the United States (1 to 1.5 per 1000 children), with certain at-risk populations showing a higher prevalence of the disease. More recent US data suggests rates as high as 5 per 1000 children might be affected with FASD.

Australian and international guidelines advise that there is no safe level of alcohol consumption during pregnancy, with alcohol avoidance being the goal. As such, the level of danger has not been determined. Some suggestions have been that the foetus is more at risk where:

Comfort may be found in a label by the family (regardless of the perceived guilt that you may assume would occur). This label may help in developing appropriate expectations for the young person and their family

A diagnosis can allow a medical practitioner to better screen for associations (physical and behavioural/cognitive). It also allows the identification of women at risk of harm from alcohol and allows referral and treatment, which may in turn, prevent the birth of a subsequently affected child

Evaluation of FASD is ultimately done using a multidisciplinary team of specialists, including a paediatrician, speech pathologist, occupational therapist, psychologist, physiotherapist, social worker +/- neurologist +/- geneticist.

It was noted by Streissguth et al. in 2004 that one of the strongest correlates of adverse outcomes was lack of early diagnosis; the longer the delay in receiving a diagnosis, the greater the odds of adverse secondary outcomes.

These can be measured using a lip-philtrum guide, either directly or through computer-aided facial photograph analysis. There is a great guide to the required measurements in this review article from Williams, Smith et al. in Paediatrics.

Even if not meeting the criteria for FASD, 70% of children with heavy prenatal alcohol exposure show neurobehavioural effects. There is variable expressivity of symptoms when comparing individuals, and even within one child, symptoms may vary daily.

Defects may be structural or functional. Microcephaly (head circumference12% with FASD. Neuroimaging may reveal a reduction in size or change in the shape of the corpus callosum, cerebellum, or basal ganglia.

Although intelligence is commonly affected, a child with FASD may have normal or above-normal levels of intelligence. Because learning, developmental and social skills delays are relatively common, it is certainly possible that many cases are not diagnosed until school age. It is worth considering whether a child diagnosed with ADHD might have a delayed diagnosis of FAS. The classical facial features tend to be less obvious as the child ages.

Fetal alcohol syndrome is 100% avoidable, and the NHMRC recommends that women who are pregnant or thinking of getting pregnant avoid alcohol altogether. Regular, heavy drinking of four or more standard drinks at a time at least once a week or binge drinking (especially in the neurodevelopmentally critical first trimester) is strongly associated with FASD. Brief, motivational interviewing may make a difference and is something that all of us who see pregnant women in the ED should routinely do. Shaming women into giving up alcohol does not work.

As with many other cases of intellectual disability, children with FASD have an increased risk of developing mental health issues in adulthood. Several studies suggest juveniles with FASD are more likely to get into trouble with the law or come into contact with the criminal justice system.

Burns L, Elliott E, Black E, Breen C, editors. Fetal alcohol spectrum disorders in Australia: an update. Canberra: Intergovernmental committee on drugs working party on fetal alcohol spectrum disorders. June 2012 Full text here

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Alcohol readily crosses the placenta and may disrupt fetal development. Harm from prenatal alcohol exposure (PAE) is determined by the dose, pattern, timing and duration of exposure, fetal and maternal genetics, maternal nutrition, concurrent substance use, and epigenetic responses. A safe dose of alcohol use during pregnancy has not been established. PAE can cause fetal alcohol spectrum disorders (FASD), which are characterized by neurodevelopmental impairment with or without facial dysmorphology, congenital anomalies and poor growth. FASD are a leading preventable cause of birth defects and developmental disability. The prevalence of FASD in 76 countries is >1% and is high in individuals living in out-of-home care or engaged in justice and mental health systems. The social and economic effects of FASD are profound, but the diagnosis is often missed or delayed and receives little public recognition. Future research should be informed by people living with FASD and be guided by cultural context, seek consensus on diagnostic criteria and evidence-based treatments, and describe the pathophysiology and lifelong effects of FASD. Imperatives include reducing stigma, equitable access to services, improved quality of life for people with FASD and FASD prevention in future generations.

Later studies found that, in addition to FAS, PAE could cause behavioural, cognitive and learning problems, such as attention deficit hyperactivity disorder (ADHD) and speech and language delay, in the absence of facial and other physical features10. Recognition of the disconnect between the neurodevelopmental and physical effects (which relate to first-trimester exposure) of PAE and the wide range of outcomes caused by PAE led to the introduction of the term fetal alcohol spectrum disorders (FASD)11. Subsequent research identified groups at increased risk of FASD12 and associations between FASD and metabolic, immunological and cardiovascular diseases in adults13,14.

FASD occur in all socioeconomic and ethnic groups15 and are complex, chronic conditions that affect health and family functioning16. Individuals with FASD usually require lifelong health care as well as social and vocational support. Some require remedial education and others interact with the justice system. Early diagnosis and a strength-based management approach will optimize health outcomes.

This Primer presents the epidemiology of FASD and the latest understanding of its pathophysiology as well as approaches to diagnosis, screening and prevention. The Primer also describes outcomes across the lifespan, management and quality of life (QOL) of people living with FASD, and highlights important areas for future research and clinical practice.

Risk factors for alcohol use during pregnancy vary across countries and throughout the course of pregnancy. For example, in Australia, first-trimester alcohol use was associated with unplanned pregnancy43, age

The pooled prevalence (per 1,000) of fetal alcohol spectrum disorders (FASD) is markedly higher in some subpopulations than in the general global population. Subpopulations with a high prevalence of FASD include children in out-of-home care, individuals involved with correctional services and those receiving special education. FAS, fetal alcohol syndrome.

The effects of PAE vary according to the quantity, frequency, duration, pattern and timing of exposure80. Periconceptional alcohol exposure can adversely affect fetal development and predispose to disease in later life81,82. PAE at different stages of organogenesis has distinct developmental consequences. PAE during first-trimester organogenesis may cause brain, craniofacial, skeletal and internal organ dysmorphology80. In mice, PAE during gastrulation (equivalent to the third week post-fertilization in humans, when an embryo transforms from a bilaminar disc to a multilayered structure comprising the three primary germ layers: ectoderm, mesoderm and endoderm) reproduces the sentinel craniofacial abnormalities of FAS: thin upper lip, smooth philtrum and short palpebral fissures9 (Fig. 4). By contrast, alcohol exposure during neurulation (starting in gestational week three in humans, resulting in the folding of the neural plate to form the neural tube) produces a facial phenotype that resembles DiGeorge syndrome, a chromosomal disorder (22q11.2 deletion) associated with facial anomalies, immune dysfunction, cardiac defects and neurodevelopmental abnormalities83.

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