A new NICE Quality Standard on FASD is coming in England in July 2020. The NICE Quality Standard will be based on the Scottish SIGN 156 Guideline. This pamphlet summarises the diagnostic process in the SIGN guidance.
The brochure is available for download as a PDF.
A Crisis of Commissioning: CCGs Are Failing Government Policy on FASD
Based on Freedom of Information requests to all Clinical Commissioning Groups and NHS Trusts and Health Boards, this report highlights the mismatch between government policy and actual practice. The vast majority of CCGs are not commissioning services for FASD prevention, diagnosis or post-diagnostic care for those with FASD.
Please click here for the media release that accompanied the launch of the report.
Click here for the BMJ article that covered this report.
Policy Matters CCGs and FASD – Easy Read Version
What You Can Do
- CCGs exist in England. If you live in England, write to your MP and ask them to contact the local CCG and ask about FASD services in your area. To find the response (if any) from your local CCG, go to www.whatdotheyknow.com and search for the name of your CCG and ‘FASD’ then it should pop up. The same search will work for NHS Trusts. If you have any trouble doing this, please let us know and we will try to help.
- Ask your MP to join the APPG on FASD chaired by Bill Esterson MP. They can do so by emailing firstname.lastname@example.org. (NOFAS-UK now serves as the APPG secretariat.)
- Contact your CCG and ask them to meet with you and other stakeholders about FASD. Ask the CCG to encourage the Department of Health and Public Health England to provide more guidance about FASD diagnosis, support and training for professionals. Click here for more information about CCGs and to find your CCG.
- Contact your local media and explain the ‘local angle’ on this report from a national charity. “Local families unable to access services for brain-based conditions’. You can refer them to this media release which has quotes they can use from leading experts and other stakeholders.
The NOFAS-UK GP Survey was conducted by OnePoll between August 22nd and September 1st, 2017. It polled 150 GPs that work in England. Principal outcomes were as follows:
- Only 31% has in-depth education regarding FASD
- 41% have not received clear guidance regarding a pathway for diagnosis and support of FASD
- Only 23% strongly agreed that they feel confident that all those with FASD are being diagnosed properly
Participants were recruited online and were paid.
Results of the NOFAS-UK 2017 GP Survey: England Fails to Meet need on FASD
Foetal Alcohol Spectrum Disorder (FASD) is an umbrella term for a range of effects that can occur to an individual who was exposed to alcohol in utero.
This Toolkit has been designed primarily for General Practitioners but it also contains advice for pregnant women and families and carers of children and adults affected by FASD.
The information and videos in this Toolkit help increase understanding of FASD, the effects of alcohol on the foetus, the process of diagnosis for FASD as well as support and strategies for a person caring for a child or adult who may be affected.
There is no cure but education can help prevent more children from being born with lifelong alcohol related brain damage and disabilities.
Information for GPs about FASD, the signs and symptoms and the best advice to give to your patients about FASD.
What is Foetal Alcohol Spectrum Disorder (FASD)?
Foetal Alcohol Spectrum Disorder (FASD) is caused by alcohol consumption during pregnancy. The term FASD describes a spectrum of structural, behavioural and neurocognitive impairments which can vary immensely between individuals.
It is a spectrum of lifelong conditions that are entirely preventable if a woman abstains from alcohol throughout her pregnancy.
FASD is an umbrella term that covers:
- Foetal Alcohol Syndrome (FAS)
- Alcohol Related Neurodevelopmental Disorder (ARND)
- Alcohol Related Birth Defects (ARBD)
- Foetal Alcohol Effects (FAE)
- Partial FAS (pFAS)
Foetal Alcohol Syndrome is the most clinically recognisable form of FASD and it is characterised by the following anomalies:
- central nervous system dysfunction
- facial dysmorphology
- pre and postnatal growth deficiency
It is often misconstrued that FAS is the worst outcome from prenatal alcohol exposure and that pFAS, FAE, ARBD, ARND are lesser forms of the disability.
Whilst it is true that the other disorders in the spectrum may not have all of the characteristics of FAS, without the recognisable facial and physical features, people can be less likely to receive a diagnosis or support.
The face is formed during the third week of pregnancy and if the mother was not drinking during this period then the child will not have the full FAS facial features. However, this does not mean that the child is unaffected by alcohol related brain damage if the mother drank at any other stage of her pregnancy.
How common is FASD
There are currently no reliable prevalence figures for FASD in the UK. Statistics are not routinely collected or recorded by the British Paediatric Surveillance Unit but the World Health Organisation state it is estimated that 1 in 100 babies are born each year with FASD worldwide.
We know that the UK has a reputation for high levels of binge drinking so we can only assume that the estimates for this country may be substantially higher.
How alcohol affects the foetus
Alcohol is a well known teratogen which can affect the developing brain of a foetus, impacting all stages of brain development, from the birth of the cells to migration or myelination. It can cause significant changes in brain structures affecting the corpus callosum, the cerebellum, subcortical structures and frontal lobes. It may also have an effect on the viability of connections between brain structures.
There are critical periods for foetal birth defects especially during the first trimester when the organs are developing. However, the brain and central nervous system are vulnerable to the effects of alcohol exposure throughout the ENTIRE pregnancy.
Startle effect of alcohol consumption on the foetus
Studies show that even small amounts of alcohol can influence foetal behaviour. Hepper et al (2004) found that maternal alcohol consumption during pregnancy increases foetal startle behaviour. The results of the study indicate that exposure to alcohol during pregnancy significantly increases the exhibition of spontaneous startles by the foetus.
The characteristics of FASD
The symptoms of FASD can be mild or severe, ranging from reduced intellectual ability and attention deficit disorder, to heart anomalies and even death.
Many children experience serious behavioural and social difficulties that can last a lifetime.
Their emotional age may often be approximately half of their physical age affecting their understanding of the world and how it is presented to them.
There are also a number of possible physical and non-physical effects of FASD that may include:
- smaller head circumference
- heart defects
- limb damage
- kidney damage
- damage to the structure of the brain
- vision anomalies
- hearing problems
- specific facial characteristics
- attention and memory deficits and hyperactivity
- difficulty with abstract concepts (maths, time, money)
- poor problem solving skills, difficulty learning from consequences
- poor judgement, poor impulse control and missing milestones
- confused social skills.
People with FASD can also find that they have:
- Difficulty translating information from one sense of modality into appropriate behaviour i.e. translating hearing into doing, thinking into saying, reading into speaking, feelings into words.
- Difficulty generalising information. Links are not automatically formed. Learning happens in isolated clumps and may be unconnected or only loosely connected to other experiences, thoughts or emotions.
- Difficulty perceiving similarities and differences. Without the ability to generalise and make associations, a person’s capacity to compare and contrast, see whole patterns, sequence, predict events and make judgements is affected.
Diagnosis of FASD
Though FASD is not a genetic disorder, in the UK it is usually a geneticist who is trained to recognise the physical and facial features and diagnose FAS. They are also able to rule out other similar syndromes it might be. Some paediatricians and psychiatrists are also knowledgeable and are able to diagnose.
Please note that the facial features tend to fade as the child gets older and it can be helpful to submit early photographs of the patient when seeking a diagnosis.
FASD is much harder to detect because of the lack of distinct facial features. The FASD Behaviour Clinic, Surrey and Borders Partnership NHS Trust www.sabp.nhs.uk is the only specialist clinic in the UK and will see children from age 6 years and above as further tests are required including psychological and behavioural tests.
Benefits of getting an early diagnosis:
- Some people feel the label of Foetal Alcohol Syndrome/Spectrum Disorder can carry a stigma. The benefits of a diagnosis bring specialised support and services which produce better life outcomes than there might have been without one.
- A diagnosis will result in better understanding of the child.A diagnosis will facilitate the process in getting the child a Statement.It will benefit the child by understanding their FASD behaviour and reassure parents that it is not their fault nor is it a result of bad parenting.
- Coping strategies can be put in place.
- Prevents an educational breakdown.
Without a diagnosis and support
People with FASD are at risk of:
- Exclusion from school
- Social exclusion
- Not being in education, employment or training
- Inappropriate sexual behaviour and unplanned pregnancies
- Problems with the law
- Going to prison or institutional confinement for psychiatric and drug treatment
- Depression, self harm and other mental health problems including suicide
The importance of a Statement or Education, Health & Care plan
A Statement or Education, Health and Care (EHC) plan will support the child throughout their education and into adult services. It will provide additional classroom support and assist entry into special schools if necessary. It will help access special supported college programmes and escorted transport for vulnerable students who are unable to travel independently. It will also show the individual child as needing support which may not be immediately apparent.
Case study: Lucy
Casey and John adopted their daughter Lucy when she was four years old – she is now nine years of age. They are devoted to their lively, adorable daughter but no matter what Casey and John did, Lucy’s behaviour became unpredictable and she was getting aggressive, angry and was hitting and hurting herself.
At school the teachers reported Lucy couldn’t stay in her seat and sometimes hit her classmates without any apparent provocation.
Though she is very verbal, she struggles with maths and telling the time. At home Casey helps Lucy every day with her homework. Lucy would learn her lesson one day and the next day forget everything she had been taught. Casey and John had tried many parenting strategies but nothing had worked.
When the social worker who had arranged the adoption told them that Lucy’s records noted her parents were alcoholics, John searched the internet and learned about FASD and FAS.
Casey and John took Lucy to their GP, Dr Robbins, who had suspected that Lucy may have been exposed to alcohol before birth. Though Dr Robbins did not have the experience to diagnose FAS or any other associated disorders, she knew that a referral to a Geneticist at the local hospital would be able to recognise the facial and physical features of FAS.
The Geneticist’s report confirmed that Lucy had the facial features of FAS, a small head circumference, together with unique hand creases, as well as small fifth fingers and toes.
When Lucy got a confirmed FAS diagnosis Casey and John were relieved to know what the problem was but didn’t know how to help Lucy.
They learned why the parenting skills they had been taught had not been helpful. Classic ‘time out’ as a punishment made Lucy get angry because she could never remember why she was being punished. She could not connect the consequences with her action.
But now that they knew that FAS was the reason for Lucy’s behaviour they could learn and apply better strategies which they then shared with those working and caring for their daughter and they started an FASD Parent Support Group. They no longer felt alone with a unique problem. They met families who could share their experiences and strategies. With knowledge and support, life improved for Lucy, her family and her school.
Knowing the prenatal alcohol question led to life-changing positive strategies for Lucy and all who cared for her.
Case study: Lisa
This case study shows that by asking difficult questions about alcohol consumption in pregnancy, the right advice and support could have been found in the early stages that would have prevented heavy alcohol damage to the foetus. By knowing more about FASD and being able to notice facial features of a person with FAS, an early diagnosis could have been made.
Birth mum, Lisa, drank heavily for the first five months of her pregnancy because of difficulties in her life at the time. From the beginning, she realised her son James, was ‘different’.
James was born underweight at 4lbs 11oz. At school, James consistently underachieved in most areas, especially maths. It was noted that he couldn’t always apply his knowledge to problem solving. There were days when he was unable to do something he had previously learned. He was always losing and forgetting things and resolutely refused to do any homework. Mornings were particularly difficult as he had no awareness of time and of the necessity to get washed and dressed for school.
As James got older, his behaviour became increasingly difficult to cope with and eventually, at the age of 14, James went into foster care. He returned home in his late teens and so began the search to find out what was causing James’ difficulties.
Following months of online research of symptoms similar to those that her son was showing, Lisa found out that the potential cause was alcohol consumption during pregnancy and that James was suffering from FAS. Lisa contacted her local GP and even though he was sympathetic he had no knowledge of FAS. Also James’ psychiatrist was adamant that James had a cannabis addiction problem and gave him a label of dissocial personality disorder.
It was only after agreeing to take part in a television documentary about Foetal Alcohol Syndrome that Lisa was put in touch with Dr Raja Mukherjee, the UK’s leading expert in the field and James received a formal diagnosis. It turned out that James had the facial features common with FAS and all the behaviours of FASD.
The majority of children with FASD are not with their birth families. They get adopted or fostered. It would be helpful if GPs could record the mother’s alcohol consumption in the child’s family history. These records will help the child in school and services later in life.
As a GP what would you do?
- What questions would you have asked Lisa when she came for an appointment when she first discovered she was pregnant?
- If you saw James, would you have been able to spot the facial features of someone with FAS?
- What symptoms were James showing that were common of someone with FAS?
- Where would you refer James for diagnosis?
- What support groups/other services would you refer Lisa to?
Why is your role as a GP so important in relation to FASD?
A GP will need to provide advice to pregnant women about the adverse effects of alcohol on the foetus – thereby playing a key role in the prevention of FASD.
GPs can offer support to families who care for a child or adult with FASD. Without the support of the GP, it may be difficult for a family to gain a diagnosis and without a diagnosis, it will be difficult to find appropriate support and services later in life.