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Fetal alcohol spectrum disorder: counting the invisible – mission impossible?
  1. Albert E Chudley
  1. Professor Albert E Chudley, University of Manitoba, Program in Genetics and Metabolism, Children’s Hospital, FE 229, 840 Sherbrook Street, Winnipeg, Manitoba R3T 3W6, Canada; achudley{at}hsc.mb.ca

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The article by Elliott et al in this issue raises many questions about how best to identify children who are affected by prenatal exposure to alcohol.1 This prospective, active case-finding national surveillance study in Australia showed the very low rate (0.58 per 105 children aged <15 years per annum) of the visible subset of children diagnosed by paediatricians with fetal alcohol syndrome (FAS). The authors considered the likelihood that there had been under-reporting of the syndrome due to several factors, including difficulty in making, or lacking in skills to make, a diagnosis, lack of awareness and recognition by physicians in considering the diagnosis, lack of reporting, lack of availability of specialists in high risk and remote areas, and paediatricians not being prepared to deal with a FAS diagnosis. This is not the first time that investigators have considered the possibility that many children with fetal alcohol spectrum disorder (FASD) are missed.2

Studies in other parts of the world suggest a much higher rate and prevalence. In a high participation county from a school age population study in Washington state, the minimal prevalence of full-blown FAS was 3.1 per 1000.3 In the USA, the best estimates for the whole spectrum of affected children with FASD suggest a prevalence approaching 1%.4 In Western Canada, the rates in selected communities and regions showed a very high prevalence of FAS and FASD (1% to over 10%).57 FASD is not a disease restricted to America, nor is it a disease that affects particular ethnic groups as illustrated by the high rates in South Africa amongst some Black communities (46–75 full-blown FAS cases per 1000).8 9 In a recent study of school age children in the Lazio region of Italy, the prevalence of FAS was 3.7–7.4 per 1000 children; when partial FAS (PFAS) and alcohol-related neurodevelopmental disorder (ARND) were added to FAS cases, the rate of FASD was 20.3–40.5 per 1000.10 However, comparing rates between countries, regions of countries and specific ethnic groups is difficult as the design of the studies (active or passive ascertainment) and criteria for diagnosis may vary.

Perspective on the paper by Elliott et al (see p 732)

So why do we need to accurately identify and count individuals with FASD in our populations and communities? First, without accurate statistics, requests for funding to develop diagnostic assessments, and prevention and intervention programs would be difficult to justify. It is hard to track the effectiveness of FASD education and prevention programs targeted at either the general public or high at-risk groups in a given population without knowledge of the frequency of the disorder. There is much truth in what my mentor, Professor Harry Medovy, a wise paediatrician, stated when he said that “some rare diseases are rare because they are rarely diagnosed”. If children with FASD are not recognised or diagnosed, treatment may be inappropriate and prevention impossible. If we actively search for these children, they will be found.

The greatest challenge is identifying the invisible, or at least the less visible, subset of FASD children, the ARND cohort. This is by far the largest category of affected children. It is estimated that for every child with full blown FAS, there are three or four who have ARND. In the absence of the hallmark physical features, these children are not easily identified, and many receive a whole range of different diagnoses.2 Many individuals with FASD have relatively well preserved non-verbal skills without significant cognitive impairment but often demonstrate social adaptive, executive function, attention and functional memory deficits. Surprisingly, when compared with FAS children, the ARND group of children with FASD have a higher degree of morbidity and secondary disabilities, such as school failure and drop-out, mental health issues, sexually deviant behaviour, drug and alcohol abuse, dependent living, trouble with the law, and incarceration.11 12 Factors predicting better outcomes in children with FASD include earlier age of diagnosis, stable home environment, absence of neglect and abuse, and earlier intervention.11 A diagnosis is often associated with a paradigm shift and change in the perspectives of caregivers towards the child—from a child who won’t to a child who can’t—and directs more specific and approriate interventions.13 Importantly, identifying children with FASD early will identify their mother’s addiction, as without treatment and support these women are at high risk of having further affected children.

There is a need to use different screening strategies for different populations in order to prevent FASD and identify children at risk for FASD.

Women who drink in pregnancy can be identified by physicians in a reliable way using standardised questionnaires.14 Alcohol history is often difficult to obtain or is not reliable. Women frequently fail to disclose, fail to recall or under-report their alcohol use in pregnancy. Confirmation of alcohol exposure is necessary for an ARND diagnosis. If a standard questionnaire is not used, physicians should be trained how to question women in a sensitive and effective manner about drinking habits and to counsel women on the need to abstain from drinking alcohol if pregnant or if planning a pregnancy.

Altered fatty acid ethyl esters in newborn meconium can identify mothers who drank excessive amounts of alcohol in the second or third trimesters.15 This in turn would identify at-risk children who need close monitoring and follow-up.

Children with behavioural difficulties and/or developmental delay, children with learning disabilities, dysmorphic children, children in care with child protection agencies, and children and adolescents experiencing trouble with the law need to be carefully reviewed in case they are alcohol affected.

In Canada, the federal government through its Public Health Agency and some enlightened provincial governments have taken FASD seriously, and have provided resources for diagnosis, and intervention and prevention programs. With federal support, Canadian clinicians have provided guidance regarding diagnosis.16 These guidelines also have promoted a multidisciplinary approach to diagnosis and attempted to better define the evaluation of brain impairments and criteria for FAS as well as for ARND. With the development of an improved system of screening and access to diagnosis, a better outcome for the individual with FASD will be realised. Development of a system of multidisciplinary clinics using standardised diagnostic criteria may also contribute to a more accurate estimate of the number of affected children in our communities, and facilitate earlier treatment and support for their mothers through referral to specialised mentorship programmes.14

FASD is a preventable disease. The most prudent advice to give women is to abstain from alcohol use if they are planning a pregnancy or if they are pregnant. Our challenge is to recognise FASD children as early as possible and to provide them with a better chance to succeed in life despite their brain injury.

REFERENCES

Footnotes

  • Competing interests: None.

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    E J Elliott J Payne A Morris E Haan C Bower