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HomeClinics, Services & ProgramsDirectoryGenetics ClinicFetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorder

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Information for patients, parents and guardians

If uou or your child has been referred to CHEO’s genetics program to be tested for Fetal Alcohol Specturm Disorder (FASD), the following information will help you get the most out of your appointment:

  • You will meet with a doctor (clinical geneticist), who will examine you or your child for physical features of FASD. You may also meet with a trainee (medical student or resident doctor).
  • If the Children’s Aid Society (or equivalent) was involved, please try to get copies of all available records ahead of the appointment and bring them with you.
  • If you or your child are adopted, you will need to bring all available information about the biological family, pregnancy, birth, and child’s medical and developmental history before the child came into your care.
  • Please bring copies of all reports from psychologists (e.g. psychoeducational testing), psychiatrists, and therapists who have met with your child.
  • Please bring your child’s most recent report card and individualized education plan (if they have one).

There may be information you do not wish to discuss in front of your child. If this is the case, consider asking your child to wait in the waiting room for the first half of the appointment. If your child is under 12 years of age, please bring another adult to stay with them. You are also welcome to provide the doctor with any sensitive information in writing before the appointment.

Frequently asked questions

 How is FASD diagnosed?

We diagnose FASD by looking for these criteria:

  1. Severe impairment in at least three different areas on testing done by a professional (e.g. a medical doctor or psychologist) and
  2. Confirmed use of alcohol by the mother during pregnancy and/or
  3. All three of the characteristic facial features

As a first step, a psychologist must check the child to see if #1 is met. Then, a clinical geneticist (or another type of doctor, like a pediatrician) checks whether the three characteristic facial features are present.

Can FASD be diagnosed with a blood test or brain scan?

No. There are no reliable tests to tell us if a child’s brain development has been affected by contact with alcohol before birth. The doctor may recommend other tests, like a blood test, if they think your child’s difficulties might be caused by a genetic condition.

How can use of alcohol during the pregnancy be confirmed?

This can be difficult, especially if the child is adopted. Here are some possible ways:
  • The biological mother can say she drank alcohol while pregnant, or her alcohol use while pregnant could have been recorded by a professional, like her doctor or a social worker.
  • Close relatives or friends of the biological mother, who are reliable, might say she drank alcohol while pregnant.
  • Other records of the mother having high levels of alcohol in her blood during pregnancy or records showing she was arrested for alcohol-related crimes.

It is best to have this information in writing, as hearing this information secondhand is not reliable evidence. Having reliable information is important so that the child doesn’t get misdiagnosed.

My child was adopted from another country and I have no records about the pregnancy, birth, or his/her biological family. Can he or she still be diagnosed with FASD?

Only if they meet criteria #1 and have all 3 characteristic facial features. If they do not have the facial features, it doesn’t mean they were not exposed to alcohol, but we cannot make this diagnosis without confirming that the mother drank alcohol while pregnant.

My child was checked for FASD in the past, and not diagnosed. Should he or she be checked again?

Generally speaking, no. But, if your child was very young at the time they were checked, it might be a good idea to reassess them. You will need to include an updated psychological assessment when submitting the referral.

My child’s doctor referred him/her for an FASD assessment, but the referral was not accepted. Why did this happen?

Possible reasons could be:

  • Your child is too young – diagnosing a child under 4 years old with FASD can be difficult. So we don’t accept referrals for babies or preschool aged children, except in specific situations.
  • Your child has not had a psychoeducational assessment – to diagnose FASD, there must be evidence of significant delays or difficulties in a number of different areas of development.

It is important we have all key information to help us figure out if your child meets the criteria for FASD. This will help you get the most out of your appointment.

Where can I get support and information about FASD?

The Fetal Alcohol Resource Program is a local program run by Citizen Advocacy. You don’t need an official diagnosis to access this program. Other helpful websites can be found here.

Information for referring providers

Fetal Alcohol Spectrum Disorder (FASD) Diagnostic Assessments at CHEO are currently done in the Genetics Clinic. We will accept referrals that meet the following criteria:

  • the patient must be 4 years of age or older - please note we will also accept referrals for adults
  • the patient must have significant developmental, behavioral, and/or mental health concerns
  • the patient must have a recent psychological assessment report included with the referral
  • if a child protection agency or adoption agency was involved with the patient, all available records must be provided with the referral

Frequently asked questions

How is FASD diagnosed?

Please review the Canadian FASD diagnostic criteria.

In order to receive a diagnosis of FASD, the patient must have:

  • Evidence of pervasive brain dysfunction, which is defined by severe impairment in three of more of the following neurodevelopmental domains: motor skills; neuroanatomy/neurophysiology; cognition; language; academic achievement; memory; attention; executive function, including impulse control and hyperactivity; affect regulation; and adaptive behaviour, social skills or social communication
  • Confirmation of prenatal alcohol exposure (documentation that the biological mother consumed alcohol during the index pregnancy based on reliable clinical observation; self-report; reports by a reliable source; medical records documenting positive blood alcohol concentrations; alcohol treatment; or other social, legal or medical problems related to drinking during the pregnancy)
  • In the absence of confirmed prenatal alcohol exposure, the diagnosis can be made if there is evidence of pervasive brain dysfunction, AND the patient has all three sentinel facial features AND other causes (for example, genetic disorders) have been ruled out.

What happens in the genetics clinic during an FASD diagnostic assessment?

Your patient will be assessed by a clinical geneticist. The geneticist will review all provided records prior to the appointment to determine whether the neurodevelopmental and alcohol exposure criteria for FASD diagnosis are met. A physical examination will be performed to determine whether the patient meets the criteria for sentinel facial features. Genetic testing may be offered if the patient has physical features that may be suggestive of an alternative diagnosis.

If the patient meets diagnostic criteria for FASD, the geneticist will provide a diagnosis letter to you and the patient/family.

Can a diagnosis of FASD be made in the absence of documented evidence of prenatal alcohol exposure?

Yes, but only if they have all three sentinel facial features AND they meet the neurodevelopmental criteria.

Looking for more information? Visit our FASD Worker Program page.

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