National guide to a preventive health assessment for Aboriginal and Torres Strait Islander people

Background

Fetal alcohol spectrum disorder (FASD) represents a range of cognitive, behavioural and physical impairments that can occur due to prenatal alcohol exposure. While alcohol is toxic to all fetal cells and may cause defects of the kidneys, heart, lungs, eyes, ears, skin and musculoskeletal system, the developing brain is particularly sensitive.^1,2 FASD is a leading, preventable cause of intellectual disability.^3,4 Alcohol exposure at any time during pregnancy may result in damage to the developing fetal central nervous system.⁵ The effects of FASD are severe and pervasive, defined as significant abnormalities of three or more domains of central nervous system structure and/or function, with or without characteristic facial features.⁶ Impairments may vary across the life course, and most often include impairments in neurocognitive functioning, behaviour and affect regulation, and difficulties handling the demands and activities of daily life.^7,8

The neurodevelopmental impairments characteristic of FASD can lead to significant social, emotional and occupational difficulties.^9–12 A study of children residing in remote Western Australian communities found that teachers reported higher rates of problematic behaviour in children with FASD compared to children without FASD. In this study, teachers were blinded to reports of prenatal alcohol exposure and also FASD diagnoses. However, the teachers were significantly more likely to report academic failure, attention problems and talk about suicide in children with FASD compared to those without FASD.¹³ Individuals with FASD are at high risk for disrupted education,² mental health and substance abuse problems,^2,14 and engagement in the justice system.^2,15 The impacts of FASD continue into adulthood, and development of a diagnostic approach beyond the paediatric population is required. Interventions and support for individuals with FASD should be made available across the lifespan and be dynamic and responsive to life changes. In addition, interventions should focus on the brain based nature of impairments, involve families and take a strengths-based approach, and be culturally secure.¹⁶

Screening for alcohol use in pregnancy, and offering appropriate intervention or referral to a specialist alcohol treatment service, is an important strategy to prevent FASD.¹⁷ Diagnosis and early intervention are crucial to understanding the affected individual’s impairment, their unique and special needs, and provides an explanation of the cause of their problems.^18,19 Understanding can facilitate acceptance of impairments by individuals and carers, and motivate responsibility for ongoing support in families and service providers.²⁰

Alcohol use in pregnancy

Alcohol consumption is common among Australian women, including women of childbearing age. National survey data suggest that approximately 50–60% of Australian women drink in pregnancy.^21,22 Most pregnant women report ceasing drinking alcohol once they find out that they are pregnant. However, one in four continue to drink even once they know they are pregnant. Of those who continue to drink, 96% report drinking 1–2 standard drinks on a typical drinking occasion.²¹

Although data from a large national survey indicate that only 20% of Aboriginal and Torres Strait Islander women drink in pregnancy,²³ it has also been reported that a greater proportion of Aboriginal and Torres Strait Islander women (compared to non-Indigenous women) drink alcohol at high-risk levels.²¹ Population-based data reported from the Lililwan FASD prevalence study conducted in remote Fitzroy Valley communities of Western Australia found that high-risk alcohol use in pregnancy was common. In this study, alcohol use during pregnancy was reported in over half (55%) of birth mothers. Of these, the majority (88%) consumed alcohol in the first trimester. However, 53% of those who drank alcohol during pregnancy did so in all three trimesters. Complete data on frequency and amount of alcohol consumption (available for 91% of birth mothers) identified that episodic high-risk drinking was most common among the women who drank alcohol in pregnancy. Of these women, 27% consumed more than 10 standard drinks on a drinking occasion 2–3 times per week, and a further 27% consumed more than 10 standard drinks on a drinking occasion 2–4 times per month.²⁴ These communities have taken action to address this high prevalence of alcohol use, and there has been a marked reduction in reported drinking in pregnancy between 2010 and 2017 (unpublished data from the Marulu FASD Prevention Strategy project).

Making a diagnosis of FASD

Diagnostic terminology for FASD has evolved over time, with categories including fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), and neurodevelopmental disorder-alcohol exposed (ND-AE) previously being used.⁹ Recently, the Australian Government endorsed the Australian guide to the diagnosis of fetal alcohol spectrum disorder (FASD) (refer to ‘Resources’),⁶ diagnostic categories from which are summarised in Figure 1.
The diagnostic terminology has been simplified to include two diagnostic categories of FASD, with or without three sentinel facial features (short palpebral fissures, smooth philtrum, thin upper lip). Severe impairment (scoring two or more standard deviations below the mean or less than the third percentile on standardised assessments) in at least three neurodevelopmental domains listed in Figure 1 is necessary for a diagnosis. Generally, confirmed prenatal alcohol exposure is required to make a diagnosis. However, where all three sentinel facial features are present, along with severe neurodevelopmental impairment, a diagnosis may be made without confirmation of prenatal alcohol exposure (Figure 1). Importantly, an affected individual may not have sentinel facial features but may still experience severe functional limitations and meet criteria for FASD.

Figure 1. Diagnostic criteria and categories for fetal alcohol spectrum disorder (FASD)
 

Making a diagnosis of FASD requires a multidisciplinary approach and specialist assessment.^6,25 As yet, there is no specific biomarker for prenatal alcohol exposure, and the history and examination is of importance to ascertain exposure risk to the child or adult, and to consider or exclude alternative or codiagnoses.^26–28 Neurocognitive profiles in FASD often overlap with attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), speech and language disorders, mental health disorders, conduct disorder, and oppositional defiant disorder.^29–31 FASD is often diagnosed in the context of other risk factors, and differentiating the relative impact of these is complex and difficult. Some diagnoses, such as ADHD, intellectual disability, conduct disorder or ASD, may co-occur with, or be a consequence of, the effect of prenatal alcohol exposure.^14,29,31 Early life trauma or neglect, and some genetic abnormalities, are associated with behavioural and cognitive impairments, and acquired brain injury from trauma, infection or metabolic conditions may present a similar neurodevelopmental profile to that seen in FASD.^26–28

Groups at high risk of missed FASD diagnosis include children in foster or adoptive care,³² and youth who have come into contact with the law.¹⁵ Due to the significant language impairments seen in FASD, assessment prior to sentencing is important so that language limitations can be accommodated in court processes.³³ The first Australian study to estimate the prevalence of FASD among youth in detention is currently underway in Western Australia. Findings from this study will inform the development of a screening tool for use with young people entering detention.³⁴
Doctors are often untrained in making a FASD diagnosis, and there may be concerns among clinicians that a label of FASD will stigmatise the mother and affected individual. Clinicians may also have the belief that there is little that can be done to alleviate the effects of FASD. For these reasons, there may be a reluctance to ask about prenatal alcohol exposure.³⁵ This situation can be disadvantageous for the person with FASD as it limits their opportunity to access services and support. FASD is often diagnosed in middle childhood, as learning and behavioural difficulties often become more apparent when children enter early schooling. This is especially the case for children with milder impairments, and those without the characteristic facial features.³⁶ Special consideration is needed for adolescents and adults living with FASD. In this population there may be less opportunity for diagnosis due to a number of factors, including limited health professionals diagnosing in adulthood, changes in physical characteristics that occur with age, and difficulties obtaining information about the pregnancy.⁶

In view of these issues, the diagnostic process requires a multidisciplinary team, ideally including a paediatrician, neuropsychologist, occupational therapist, speech and language pathologist, and social worker.^6,25 This is not always feasible due to a lack of services in regional and remote areas of Australia. Therefore, a more streamlined approach to diagnosis, for instance by a paediatrician and neuropsychologist, may be adopted. The diagnostic team can also vary depending on age and setting.⁶ In younger children (aged <5 years), diagnosis may be made by a paediatrician conducting developmental testing. In adolescence and adulthood, a medical practitioner, neuropsychologist, and speech and language pathologist may constitute an appropriate diagnostic team.³⁷ As diagnosis in adulthood is not readily available in Australia, a paediatrician with specialist expertise in FASD may support the diagnostic team. Where mental health disorders are suspected, confirmation of these diagnoses by consultation with a psychiatrist may be required.

In Aboriginal communities where English is not a first language, assessments need to be minimally biased by culture and language (eg using non-verbal cognitive assessments, and working with interpreters and cultural consultants).⁶ The assessment process includes comprehensive history-taking to consider or exclude other exposures (prenatal or postnatal), and consideration/investigation for other risk factors (eg trauma, illness, structural central nervous system abnormality, genetic or metabolic conditions, anaemia, thyroid deficiency).⁶ In remote or regional settings, GPs may liaise with paediatricians via telehealth to seek advice on screening, diagnosis and management.

Multiple services with expertise in FASD diagnosis and training now operate within the Australian and
New Zealand FASD Clinical Network (refer to ‘Resources’) as resources to increase diagnostic activity.³⁸ GPs can refer to a paediatrician and multidisciplinary team for formal assessment of neurodevelopment or FASD, including using a GP Mental Health Treatment Plan, GP Management Plan, or Team Care Arrangement. Specific item numbers for FASD diagnosis are not currently included within the Medicare Benefits Schedule (MBS); however, clinicians are advocating for this as it is believed that this will facilitate FASD diagnostic activity.
Neurodevelopmental profiles of individuals with FASD may change over time or become more pronounced at key transition points during development (eg when entering school or the workforce), and reassessment by relevant services over the life course is often required. Early intervention aims to improve neurodevelopment and functional outcomes and reduce social and mental health problems later in life.¹⁶ A coordinated approach to assessment and diagnosis will facilitate the selection of appropriate interventions. A process of referral, assessment, intervention, review, and reassessment with ongoing case coordination is recommended.¹⁶ Models of care for FASD screening, referral and diagnosis have been developed in some regions.^39,40 In 2017 the Australian Government committed funding to increase FASD diagnostic capacity nationally, and a consultation process was initiated to develop the Australian FASD Action Plan 2018–2028.

Interventions

Primary prevention strategies to reduce alcohol use in pregnancy

Prevention interventions should be targeted to women of childbearing age and their partners, and women with alcohol dependency.³⁹ The environment the woman is situated within is important to ascertain alcohol exposure risk. For example, studies have indicated that women are more likely to drink alcohol during pregnancy when living with a partner who consumes alcohol.⁴¹ The role of partners and family therefore deserves considerable attention in preventive management. Various primary prevention strategies have been adopted in Aboriginal communities and primary healthcare settings that take a whole-of-community approach to prevent risky drinking (refer to Chapter 1: Lifestyle, ‘Alcohol’). These strategies include school and family education programs, efforts to improve access to antenatal care, women’s support groups, the provision of alternative activities to drinking, warning labels on alcohol, and restricting access to the supply of alcohol.⁴²

Secondary prevention: Early detection and screening for risky drinking

In the primary care setting, screening to assess both the quantity and frequency of alcohol use in routine interviews with all women of childbearing age is important.^43,44 This is especially the case for women planning a pregnancy.^39,45 Appropriate history-taking and screening tools for risky drinking can be used. The Alcohol Use Disorders Identification Test – Consumption (AUDIT-C) is a valid screening tool suitable for primary healthcare settings, with high sensitivity and specificity for identifying harmful drinking,^46,47 but other tools for risky drinking are also available (refer to Chapter 1: Lifestyle, ‘Alcohol’).

Those identified as at risk should be provided with appropriate information about the risks of alcohol use in pregnancy and while breastfeeding. Contraceptive advice to reduce unplanned pregnancy should also be offered (refer to Chapter 4: The health of young people, ‘Unplanned pregnancy’).^17,39 Use of brief intervention techniques by health professionals may be effective at reducing risky drinking when it is identified and where dependency is not yet apparent (refer to Chapter 1: Lifestyle, ‘Alcohol’). Where dependency is identified, referral to specialist addiction services focusing on more intensive treatment is necessary.^17,39,45

There is good evidence for the use of brief interventions to reduce alcohol consumption in the general population.⁴⁸ However, in Australia there have been limited studies of screening and brief intervention for women who are pregnant and use alcohol.⁴⁹ International studies examining the effect of brief alcohol interventions generally find reduced drinking and improved outcomes for pregnant women.^50–52 For example, a cluster randomised trial in the US found that women receiving brief interventions were five times more likely to report abstinence by their third trimester when compared to women who only received screening. For the women who received brief interventions, the occurrence of fetal death was also much lower.⁵⁰ Studies also show that pregnant women in control groups (who receive screening, but not brief intervention) report reducing their alcohol consumption.^50–52 These findings may indicate that for some women, screening can heighten awareness of the consequences of drinking alcohol. However, it is also possible that the reduction in reported consumption is an effect of social desirability.^53,54

Reporting of alcohol use at the time of pregnancy is likely to be associated with feelings of guilt or shame,⁵⁵ and therefore needs to be addressed with consideration and sensitivity by practitioners. Health professionals should understand and acknowledge how colonisation, dispossession and the forced removal of children have affected the health of Aboriginal and Torres Strait Islander peoples over successive generations.⁴⁹ Aboriginal and Torres Strait Islander women may not disclose alcohol use to health professionals due to fear of intervention by government agencies.⁵⁶ A sensitive and supportive ‘no blame, no shame’ approach to both screening for alcohol use in pregnancy and to taking a child development history of prenatal exposures should be adopted. Individuals with FASD who have substance use problems may face significant barriers to accessing substance use treatment and care, and therefore be at risk of having alcohol-exposed pregnancies. Awareness of the cognitive and behavioural challenges faced by individuals with FASD will enable support programs to be tailored to individual needs. For example, it is important for service providers and health professionals to recognise that non-adherence to care plans may be an effect of FASD, and modifications or accommodations in programs will likely need to be made.⁵⁷
Resources to guide practitioners to sensitively and appropriately ask about alcohol with the patient are available (refer to ‘Resources’). These resources include Women Want To Know and the FLAGS (feedback, listening, advice, goals, strategies) brief intervention model.⁴⁶

Therapy and support for those diagnosed with FASD

Early diagnosis or practitioner awareness of prenatal alcohol exposure, along with an understanding of neuropsychological deficits before six years of age, is an important factor associated with improved longterm outcomes for individuals with FASD.² Interventions for FASD include pharmacological treatments, caregiver support programs, language and educational interventions, social skills development and behavioural strategies. Systematic reviews of the effects of these interventions are inconclusive due to problems with inadequate study designs, a small number of studies and sample sizes employed, and lack of long-term follow-up data on outcomes.^58,59

While the evidence base is limited and largely restricted to school-aged children, interventions targeting self-regulation and attentional control in early to middle childhood have shown improvements in neuropsychological functioning in children affected by FASD. Additional caregiver reports of behaviour^60–62 suggest that neurocognitive rehabilitation is a promising intervention for children.⁶³ The Alert Program^® focuses on self-regulation skills by teaching children to manage their arousal levels, and has recently been piloted for feasibility in remote Western Australian schools. Future implementation and evaluation of this program aims to provide evidence about the efficacy of self-regulation interventions in Aboriginal communities where the prevalence of FASD among children is of concern.⁶⁴ Interventions addressing social skill deficits have also demonstrated some effectiveness.⁵⁹ Studies evaluating Children’s Friendship Training (CFT), a parent-assisted social skills program for primary school kids, found improved social skills compared to a control group post-intervention.^65–67 Strategies designed to help caregivers improve parenting skills and manage challenging behaviours in children have been found to decrease caregiver stress and improve coping skills.⁵⁹ An evaluation of Families Moving Forward (FMF), a parenting program developed in the US, found significant improvement in parenting self-efficacy and inparent’s reports of children’s behaviour.⁶⁸

Australia has few FASD-specific therapy programs or providers, but there are existing mainstream therapy programs (eg those targeting ADHD, sensory processing issues, behavioural dysregulation, language impairment) that are appropriate for the domain-specific impairments commonly seen in FASD. However, the inclusion of FASD psychoeducation regarding the brain-based (as opposed to behavioural) nature of impairment in FASD is important. A focus on making accommodations (scaffolding in the learning environment) and tailoring therapy to the cognitive level of those affected is likely to increase the efficacy of any therapy approach.¹⁶ Living independently is a challenge for adults with FASD,² therefore supported living arrangements, modifications to workforce training and ongoing vocational support may be required.³⁵

Given the overlap in behavioural symptoms between FASD and ADHD, drug treatments for FASD have largely focused on stimulant medications. Studies examining the effects of stimulant medications on ADHD symptoms in children with FASD have shown improvements in symptoms of hyperactivity, but not in attention.⁵⁸ Medication should be tailored to the needs of the individual and be compliant with prescribing stimulant medicine guidelines. Further, medications should be part of a broader multimodal treatment plan that includes educational and psychological interventions, and specialist consultation is recommended.⁶⁹ Specialist advice should be sought on medication treatment in FASD, as symptoms of inattention and hyperactivity may co-exist with anxiety or behavioural dysregulation, and a more nuanced treatment approach may be needed.

Overall, successful outcomes are more likely when interventions supporting both the individual with FASD and family/carers are implemented alongside each other. Integrating interventions into existing systems such as local and early childhood intervention services, school-based education and the regular home environment has been associated with success.⁶⁸ A number of factors may influence access to services and also the delivery of services.¹⁶ These include language and cultural differences, challenges of service delivery in remote communities and of understanding lived histories, cultural dislocation, and the impact of intergenerational trauma for Aboriginal and Torres Strait Islander peoples in Australia.^70,71 The cultural beliefs of Aboriginal and Torres Strait Islander peoples should be explored in standard practice so that erroneous assumptions are not made by practitioners.⁷² Consulting with local communities from the outset, and focusing on community capacity building, is likely to more effectively engage affected individuals and families.⁴³