Health Screening Process

Impact of diagnosis

As FASD is a lifelong condition that alters brain function, individuals with FASD require appropriate therapeutic interventions. Medical, allied health and educational supports may have a dramatic, positive effect on a child’s development if provided early in life. All types of clinicians and early childhood educators and teachers play an important role in supporting parents and carers to sensitively identify developmental concerns.

Health professionals need to understand what assessments should be done when considering a diagnosis of FASD, the diagnostic criteria, and how they can contribute towards establishing a diagnosis.

A diagnosis of FASD requires a multidisciplinary clinical assessment with: confirmation of prenatal alcohol exposure; documentation of severe impairment in at least 3 of the 9 domains of neurodevelopment function shown in the table below – which has its onset in childhood and requires support; exclusion of other conditions that better explain the clinical presentation; and recording of characteristic facial and other physical features, head size, birth defects and growth. Conditions such as ADHD, autism, intellectual disability and sleep disorders commonly co-occur with FASD.

The Fact Sheet on assessment and diagnosis is provided below.

Details of the assessment and diagnosis are available in the Guidelines to the Assessment and Diagnosis of FASD.

Additional information is available on the FASD Hub.

Why make a FASD diagnosis?

Early assessment and diagnosis of FASD allows for appropriate early intervention and optimal outcomes. Without a comprehensive diagnosis based on known prenatal alcohol exposure, children with FASD might be judged as being non-compliant, uncooperative or unmotivated, when the behaviours are actually the result of a brain-based disability.

An accurate diagnosis helps guide treatment; for example, stimulant medications for attention deficit hyperactivity disorder (ADHD) may not help a child whose attention deficits stem from prenatal alcohol exposure and brain damage.

Diagnosis can also highlight the need to support the mother to refrain from consuming alcohol in subsequent pregnancies, including referral to appropriate health services.

Supporting FASD within the community

June Oscar AO
Previous CEO of Marninwarntikura Women’s Resource Centre

Video length: 1m 3s

Early diagnosis of children with FASD is important for the child and their families, so that everyone around them understands their strengths and needs, as well as how best to support them. The growing community knowledge about the prevalence of FASD in our community can help to ensure fewer children are impacted by alcohol-related harm.

— Jadnah Davies, Marulu Senior Project Lead

The role of Health Professionals

Professor Elizabeth Elliott AO
Distinguished Professor in Paediatrics and Child Health at the University of
Sydney

Video length: 4m 51s

Domains of neurodevelopment assessed

A FASD diagnosis requires impairment in 3 or more domains.

Domain	Definition
Communication	Receptive and expressive language skills – the ability to understand words and language and the emerging ability to use words to communicate.
Motor skills	Skills related to balance, movement and coordination of the muscles of the body – fine and gross motor skills are involved in using and controlling muscles in the body.
Intellectual Abilities	The process of knowing, perception, awareness and judgement, including iq, verbal and non-verbal skills, and the ability to learn new skills.
Attention	The ability to choose and concentrate on relevant information or the ability to focus.
Memory	The processes used to acquire, store, retain and retrieve information, including verbal and visual memory.
Executive function	Higher level skills used to organise thoughts and behaviours, which help with impulse control, working memory, planning and problem solving – in the early years, these skills are emerging for all children.
Emotional and/or Behavioural regulation	The ability to control emotions, moods and feelings – in the early years, these skills are emerging for all children.
Literacy and/or Numeracy skills	The emergence of skills in reading, mathematics and literacy – more relevant to children in older age groups.
Adaptive and Social functioning	Skills enabling successful participation in day-to-day activities, including age-appropriate self-care, communication and socialisation skills – in the early years, these skills are emerging for all children.
Affect (emotion) regulation	The ability to control emotions, moods and feelings – in the early years, these skills are emerging for all children.

Diagnosis considerations

Challenges of diagnosis

The challenge of diagnosis increases in the case of young children with prenatal alcohol exposure who may be too young to be fully assessed and/or have been exposed to both prenatal alcohol and early life trauma, which may cause or amplify a range of impairments that are seen in FASD. These children may be considered “at risk of FASD” and require clinical follow-up when older. In adolescents and adults, the characteristic facial features of FASD may be less visible and the history of prenatal alcohol exposure more difficult to confirm. In the many children who live in out-of-home care, the history of prenatal alcohol exposure can rarely be obtained from their birth mother and must be sought from medical, child protection or other records or a first-hand witness accounts.

Common physical characteristics of FASD

The physical characteristics associated with FASD - including structural abnormalities of the face or organs (e.g. heart, kidney etc.) occur following alcohol exposure during the first twelve weeks of pregnancy, often before a woman knows she is pregnant. The spectrum of neurodevelopmental and physical disorders that occurs in FASD depends on the frequency, quantity and timing of alcohol exposure, genetic and environmental influences, maternal age and health, and the use of other drugs during pregnancy.

Facial features

Recent research data indicates that about one tenth of children with FASD have the three characteristic (sentinel) facial features that make their disability ‘visible’ – a thin upper lip, flat philtrum (the region between the bottom of the nose and upper lip) and narrow palpebral fissures (eye openings). This means that most children with FASD have only behavioural, developmental and learning difficulties as indicators of their disability.

Sites and timing of birth abnormalities

The image of the fetus to the right shows some common sites of physical abnormalities that can be caused by prenatal alcohol exposure.

Major and minor FASD abnormalities during the stages of pregnancy

The diagram below shows the timing during pregnancy of the development of some major and minor abnormalities that may occur in FASD.

Major and minor abnormalities may develop during all stages of pregnancy, with many major abnormalities occurring within the first 6 weeks.

Source: Adapted from C Blackburn, B Carpenter and J Egerton, Educating children and young people with fetal alcohol spectrum disorders: Constructing personalised pathways to learning, Routledge, Abingdon, Oxon, 2012, p. 13.