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Fetal alcohol syndrome: Diagnosis, epidemiology, and developmental outcomes, CM O’Leary

In an excellent review of fetal alcohol syndrome (FAS) published in this issue1, Colleen O’Leary outlines the essential diagnostic criteria for FAS − the triad of growth retardation, abnormal facial features and CNS anomalies in the context of known exposure in utero to alcohol. She describes the numerous clinical features that may be seen in affected children but alludes to the fact that FAS represents only the ‘tip of the iceberg’ when it comes to the range of outcomes, including behavioural and cognitive dysfunction, that may result from fetal exposure to alcohol.

Information presented about the epidemiology of FAS outside Australia suggests a birth prevalence ranging from 0.26 per thousand live births (in middle to upper class Caucasians in the USA)2 to an astounding 39 per 1000 live births (in the predominantly black population of The Western Cape Province in South Africa)3. Differences between rates may change over time and are attributed to a range of risk factors including ethnic diversity, socio-economic status, maternal age, concomitant abuse of other substances, and genotype. Clearly, the criteria used to diagnose FAS, the method of case ascertainment, knowledge of drinking patterns during pregnancy, and the extent to which children have access to specialized paediatric services may also influence rates. One message, however, is clear from these data. Rates of FAS in Indigenous communities − whether American Indians, South Africans, Canadians or Alaskan Natives − are much higher than in non-indigenous individuals.

So how common is FAS in Australia and does it occur more frequently in our indigenous communities? O’Leary's review highlights the paucity of published Australian data on FAS. In 1978 a series of six children affected by maternal alcoholism was reported in the MJA by Collins and Turner4‘to increase awareness of the FAS in Australia.’ Case series published by Walpole and Hockey in 19805 and Lipson et al. in 19836 included a total of only 27 children, 22% of whom had an Aboriginal mother. In a recent issue of this Journal, Harris and Bucens7 conducted a retrospective case note review of children born in the Top End of the Northern Territory between 1990 and 2000. Inpatient and outpatient notes of all children with conditions corresponding (by International Classification of Diseases (ICD) 9 or ICD 10 code) to fetal alcohol syndrome, microcephaly, fetus or newborn affected by maternal use of drugs of addiction, mental and behavioural disorders due to alcohol, or drug withdrawal syndrome in the newborn were reviewed. Seventeen children fulfilled the diagnostic criteria for FAS. All were Indigenous. Based on this number of cases, birth prevalence was estimated at 0.68 per 1000 live births or 1.7 per 1000 indigenous live births. The authors acknowledge this may be an under-estimate. If, for example, the additional 26 children (all Indigenous) that they determined to have ‘partial FAS’ or ‘alcohol-related neuro-developmental disorder’ actually have FAS (but documentation in the records was insufficient to make the diagnosis), then rates would increase to 1.87 per 1000 live births and 4.7 per 1000 Indigenous live births. The only other estimate of birth prevalence in Australia comes from a Western Australian study, in which Bower et al. report combined data from the WA Birth Defects Register and the Rural Paediatric Services Database8. The overall rate of FAS was 0.2 per 1000 live births (0.02 per 1000 live births in non-Aboriginal children − one of the lowest rates reported worldwide − and 2.76 per 1000 live births in Aboriginal children). These rates are considered by the authors to be an underestimate of the true prevalence of FAS. An ongoing study using the Australian Paediatric Surveillance Unit (APSU) mechanism for case finding through paediatricians will go some way to providing baseline data on the national FAS rate in Australia9. Preliminary data from 2001 to 2002 suggest an overall birth prevalence lower than that in the WA study, and with an over-representation of Indigenous children. However, the APSU study has limitations and is also likely to result in an underestimate of the true FAS rate.

Accurate determination of FAS rate is thwarted for a number of reasons. First, many rural, low socio-ecomomic and Indigenous communities have poor access to specialized paediatric and obstetric services and many do not access antenatal care until late in pregnancy. Second, the detailed clinical data required for the diagnosis of FAS (including birth weight, height and head circumference, growth velocity and facial features) are often poorly recorded in medical notes. Third, retrospective documentation of the extent of alcohol consumption during pregnancy is notoriously unreliable, and this information is often not sought or recorded prospectively. Fourth, the diagnosis of FAS in young infants generally, and recognition of the facial features in Indigenous infants in particular, is difficult. As a result the diagnosis is frequently delayed or never made.

Finally, although there is no published information on the knowledge of Australian health professionals about the diagnosis or management of FAS, there is evidence from the US that health professionals there are ill informed about FAS10. As part of the Research Study of Fetal Alcohol Syndrome in Australia, which also includes the APSU study and a review of contemporary data on alcohol use in pregnancy, we are currently surveying obstetricians, general practitioners, Aboriginal and allied health professionals, and community nurses to obtain Australian data. Worryingly, in a South Australian survey of general practitioners published in 1992, only 42% of GPs could identify the hazardous daily level of alcohol intake for women, as defined by the National Health and Medical Research Council (NHMRC) at that time11. The NHMRC Australian Alcohol Guidelines have recently been updated for women who are pregnant or might soon become pregnant (Table 1, Guideline 11)12. However, these recommendations are complex and it is important to know how well they have been disseminated to and understood by health professionals, and how reliably they are communicated to women. If, as we suspect, these guidelines are difficult to operationalize, they will need revision, simplification and wide dissemination.

Table 1.   Guideline 11, National Health and Medical Research Council (NHMRC) Australian Alcohol Guidelines10
Women who are pregnant or might soon become pregnant
11.1May consider not drinking at all;
11.2Most importantly, should never become intoxicated;
11.3If they choose to drink, over a week, should have less than seven standard drinks, AND, on any one day, no more than two standard drinks (spread over at least 2 hours);
11.4Should note that the risk is highest in the earlier stages of pregnancy, including the time from conception to the first missed period.

Educational programs are essential for health workers at all levels to provide them with the skills required to screen for alcohol intake in pregnancy, to counsel women at risk, and to ensure early recognition of FAS and referral of children to appropriate services. Children with FAS frequently have behavioural, developmental and cognitive problems. APSU data suggest that these children use a range of specialist paediatric, child development, disability, community, remedial education, respite and psychological medicine services9.

Fetal alcohol syndrome has been described as a ‘preventable tragedy’.13 However, identifying interventions to prevent FAS requires consideration of the antecedent risk factors. Some risk factors cannot be modified, including maternal genotype for alcohol dehydrogenase, which may influence alcohol intake, metabolism, and fetal effects14. The causal pathway we have developed (Fig. 1) acknowledges that FAS is the end result of a complex interaction between diverse social, political, environmental, and genetic risks. FAS is also the beginning of a lifelong and intergenerational pathway to physical, social and mental ill-health. Overlying this causal pathway are issues specific to our Indigenous population, such as the effects of colonization, marginalization, and loss of traditional culture15. Addressing these issues will be an important part of any FAS initiative in Indigenous populations.

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Figure 1. Causal pathway to fetal alcohol syndrome.

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We have identified a number of points at which the pathway to FAS might be interrupted (Fig. 1). Interventions with the most impact are those that could be applied at the top end of the pathway. However, these are also the most difficult to implement. Prevention of FAS is not a problem for health alone, but for a range of portfolios including housing, justice, education, and community services. For example, a reduced societal acceptance of alcohol use might decrease the use of alcohol in women.

In Australia, several Indigenous communities have completely banned alcohol in an attempt to minimize some of its negative effects. These include lack of supervision and inadequate nutrition of children, unemployment, domestic violence, non-accidental injuries, accidents and motor vehicle accidents. Improvements in maternal education and access to health services (including antenatal care and contraception) might also decrease fetal exposure to alcohol. Similarly, the provision of better employment opportunities, housing and education, as well as decreasing rates of substance abuse and domestic violence, may also have an impact on alcohol intake. Preliminary data from the APSU9 indicate that many mothers of children with FAS used, in addition to alcohol, a range of addictive and other drugs during pregnancy, including heroin, solvents and cocaine. Few of the mothers had progressed beyond secondary education and as few as one third of children reported with FAS were currently living with a biological parent, many having been placed in foster care. Around half the mothers had more than one child with FAS − a shocking statistic that highlights our failure to protect children most at risk.

Interventions at the bottom end of the causal pathway will provide only ‘band-aid’ solutions to the problem of FAS. Nevertheless, access to specialist health and educational services must be assured for children with FAS, who may have multiple disabilities. Education of affected children and their siblings regarding the perils of alcohol abuse, as well as measures to control access to harmful substances, may go some way to preventing FAS in the next generation.

There are encouraging signs of increased interest in FAS in Australia. A recent episode of the SBS series Living Black16 featured FAS and a National Workshop on Fetal Alcohol Syndrome was convened by the Australian National Council on Drugs and the National Expert Advisory Committee on Alcohol in 200217. A literature review of FAS was undertaken on behalf these organizations18, on which Colleen O’Leary's report in this issue of the Journal is based1. In September 2003 a conference highlighting FAS was run by the Indigenous Children's Services Unit of the Queensland Council of Social Service in Townsville. It is timely to build on this momentum. There is an urgent need for research to provide accurate information on the frequency of FAS in specific communities and to evaluate the feasibility and efficacy of potential interventions to interrupt the causal pathway to FAS.

Acknowledgements

  1. Top of page
  2. Acknowledgements
  3. References

The Research Study of Fetal Alcohol Syndrome in Australia is funded by Healthway WA. The Australian Paediatric Surveillance Unit is funded by the Department of Health and Ageing and is a Unit of the Division of Paediatrics of the Royal Australasian College of Physicians. We thank Ms Jan Payne from the Telethon Institute for Child Health Research, Perth, WA for supplying data for this article.

References

  1. Top of page
  2. Acknowledgements
  3. References