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Getting a diagnosis

For any FASD diagnosis you may be asked for the following:

  • any proof you might have about an alcohol-exposed pregnancy (see below for what can be used as proof),
  • any proof from school or other professionals about developmental challenges.
  • baby pictures that show the face (not smiling) (Please note: <10% of people with FASD have facial features but if there is no proof of an alcohol exposed pregnancy this is the only instance in which an FASD diagnosis might be possible).

new diagnostic terms

  1. Fetal Alcohol Spectrum Disorder with sentinel facial features (formerly Fetal Alcohol Syndrome) 

  2. Fetal Alcohol Spectrum Disorder without sentinel facial features-formerly Partial Fetal Alcohol Syndrome (pFAS), Alcohol-Related neurological Disorder (ARND), Alcohol-Related Birth Defects (ARBD), or Neurobehavioural Disorder-Prenatal Alcohol Exposure (NDPAE).

Diagnosis for a child

Ask the GP to refer you to a paediatrician. The paediatrician may conduct an array CHG blood test to rule out any genetic issues.

(Note: a referral to a geneticist is not needed at this point and can delay things. If something shows positive, the referral can be made at that point. Even if there is a positive genetic test, this does not rule out that there may also be FASD.)

To get a full picture, assessment should ideally include:

  • Neurodevelopmental, neuropsychological or neurocognitive assessment – this will test adaptive planning and executive functioning,
  • Speech and language assessment – a thorough assessment will explore not only how a person speaks but also should test receptive language (what they are understanding and processing),
  • Sensory integration assessment – conducted by a specially trained Occupational Therapist. This should highlight areas of sensory challenges and provide what is sometimes called a ‘sensory diet’ of activities you can do at home to help with sensory issues.

Diagnosis for an adult

Sadly, it can be more challenging for adults to get a diagnosis. Discuss your concerns with your GP. Explain that you are concerned you might have FASD. Bring any proof you have (as above) and ask the GP to refer for a neuropsychological assessment. Even if it doesn’t lead to an FASD diagnosis, this assessment can identify any problems with processing and will be useful in supporting any claims for benefits or additional support at work. See below for clinics that might be able to help  if local services aren’t available.

How a diagnosis is made:

a)

Confirmation of alcohol exposed pregnancy

These are the types of proof that can be provided re an alcohol-exposed pregnancy. Sometimes a review of the maternal records with a fresh set of eyes by the professionals can yield the proof needed.

This is from Scottish SIGN guidelines that have been accepted by NICE as the basis for the upcoming NICE Quality Standard on FASD:

Confirmation of PAE requires documentation that the biological mother consumed alcohol during the index pregnancy based on:

  • reliable clinical observation
  • self report or reports by a reliable source
  • medical records documenting positive blood alcohol concentrations, or
  • alcohol treatment or other social, legal or medical problems related to drinking during the pregnancy.

From: https://www.sign.ac.uk/our-guidelines/children-and-young-people-exposed-prenatally-to-alcohol/

NOTE: a diagnosis of FASD is possible without confirmation of alcohol-exposed pregnancy in the <10% of instances when three sentinel facial features are present.

b)

Related symptoms

According to SIGN 156, “a diagnosis/ descriptor of FASD is made only when there is evidence of pervasive and long-standing brain dysfunction, which is defined by severe impairment…in three of more of the following neurodevelopmental areas of assessment”:

  • Motor skills
  • Cognition
  • Memory
  • Neuroanatomy/neurophysiology
  • Academic achievement
  • Language
  • Attention
  • Executive function, including impulse control and hyperactivity
  • Affect regulation, adaptive behaviour, social skills or social communication

SIGN 156 states: “The diagnostic /descriptive criteria for FASD are the same for adults as for younger individuals”

Referrals

Increasingly clinical commissioning groups are developing diagnostic pathways that allow people affected by FASD to have their needs assessed. The situation is patchy but is improving but often families & individuals still have to seek exceptional funding from NHS panels or fund the assessment privately.

  • The National FASD & Behavioural Clinic has a long history of providing gold-standard multi-disciplinary assessment and treatment in the UK. The Clinic is designed to handle more complex cases and has particular expertise in overlapping  conditions such as autism and FASD, but often also receives referrals for those who are unable to access local diagnosis.  The National FASD Clinic also provides consultations for local and regional teams who might need expertise advice on particular cases.
  • The Centre for FASD has a range of assessments available, including Neuropsychological and Attachment/Trauma Assessment that many have funded via the Adoption Support Fund in England for children who have been adopted or placed on Special Guardianship Orders. (SGO). The Centre for FASD works in collaboration with the National FASD Clinic.
  • Regionally more centres and practitioners are now providing assessment for FASD and this will improve following the coming NICE Quality Standard.

Recognising FASD pamphlet

FASD in Focus: Diagnosis & Assessments

FASD with Sentinel Facial Features (less than 10% of those on FASD spectrum)

National FASD favicon

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