It aims to unify conflicting and unstandardised diagnostic criteria, to combat underdiagnosis and misdiagnosis.
A new NHMRC-endorsed guideline for Fetal Alcohol Syndrome Disorder streamlines the criteria for diagnosis to improve care for this common condition.
“A key consideration in developing these guidelines was the lack of unified diagnostic criteria for FASD internationally,” the guideline authors said.
“Given the complex and varied nature of presentations, different research groups have prioritised different clinical features and implemented various diagnostic terms to describe FASD.”
But the lack of consistency has been a barrier, leading to worse care, the guideline says.
“Families say that a delay in diagnosis is common – many wait several years – and that they have often seen multiple clinicians before they finally receive a diagnosis of FASD,” Professor Elizabeth Elliott, head of the NSW FASD Diagnostic Clinic, told media.
“A delay in diagnosis represents a missed opportunity to optimise outcomes. We know that early diagnosis is critical to allow for early and appropriate interventions that will set people with FASD up to thrive.”
Around 3% of the population has FASD, and it is thought to be the top cause of non-genetic disability in the country, according to FASD Hub.
Professor Elliott urged doctors to upskill by reading these clinical guidelines and doing eLearning courses available on FASD Hub Australia.
“Every clinician – whether a medical specialist such as paediatrician, psychiatrist, obstetrician or geneticist; a psychologist or an allied health professional; a general practitioner or a midwife – can contribute towards the assessment of an individual with prenatal alcohol exposure,” she said.
“To do so, they need to understand what constitutes a diagnosis of FASD and then carefully record relevant information that is available in their clinical practice or setting.”
The guideline had been updated to include new research and to incorporate the experiences of people living with FASD, and their families, and Aboriginal and Torres Strait Islanders.
While early diagnosis was important, doctors were encouraged to consider assessment and diagnosis at any age.
“Individual attributes that may manifest as barriers to equitable inclusion may only become evident with age,” the guideline says.
“Periodic Review should occur when clinically indicated, considering the supports in place, and the potential impacts of major life transitions on functioning.”
It also emphasised the importance of doctors asking about alcohol exposure before and after the woman recognised she was pregnant, to fulfil Criterion A in the five-part diagnostic criteria.
Confirmation could be obtained through: maternal report of alcohol use in the pregnancy, a report from a witness who directly observed prenatal alcohol use or information obtained from medical or other records – such as child protection or justice records.
Without a confirmed history of prenatal alcohol exposure, sentinel facial features could also be indicative. These included short palpebral fissure, thin upper lip and smooth philtrum.
Some terms had been changed in Criterion B, which covers neurodevelopmental impairment.
“Cognitive impairment” was replaced with “intellectual ability”, “language” was replaced by “communication” and “academic achievement” was replaced by “literacy and numeracy skills”.
“Affect regulation” was now known as “emotional and/or behavioural regulation”.
What stayed the same was the domains of: motor skills, memory, attention and executive function.
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To meet Criterion C, the neurodevelopmental impairments must result in functional effects that necessitate significant supports – such as additional support at home and/or school.
For Criterion D, those neurodevelopmental impairments must begin in the period of child development.
Criterion E stipulates that the symptoms aren’t better attributed to a different condition or exposure.
“This means differential diagnoses such as genetic disorders must be excluded, and other exposures taken into account,” Professor Elliott said.
“Other exposures might include substances or medications used in pregnancy, in addition to alcohol. Postnatal exposures such as brain injury or infection should also be taken into account.
“Adverse experiences in childhood, adolescence or adulthood should also be documented, as should a family history of health and mental health problems, development or intellectual disorders.
“Current substance use in a person being assessed, existing neurological conditions and nutritional, metabolic and endocrine disorders that might impact neurodevelopment should also be considered.”
It is important to note that people with FASD could have coexisting diagnoses, she added.
As alcohol was a known teratogen, it was important that clinicians documented any physical features that could be caused by prenatal exposure.
This included the three sentinel facial features, other facial dysmorphology, head circumference, birth weight and length and postnatal weight and height.
“Clinicians should also record significant clinical symptoms, neurological conditions, birth defects and diagnoses such as those that fulfil DSM-V criteria, including ADHD, ASD and other mental health conditions,” Professor Elliott said.
“As with any diagnosis, when assessing an individual for FASD, clinicians should use their clinical judgement regarding the most appropriate assessment tools and the interpretation of assessment results.”
Those with confirmed prenatal alcohol exposure but without meeting the diagnostic criteria could be considered at-risk of FASD and could need subsequent assessment when they get older, she said.
“We encourage you to continue to report confirmed cases of FASD to the Australian Paediatric Surveillance Unit and the Fetal Alcohol Spectrum Disorder Australian Registry,” she said.
