Fetal Alcohol Spectrum Disorder – clinical features and diagnosis

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Callum is a 6 year old boy who has been referred to paediatrics by his GP due to school concerns regarding his poor attention span and difficulty with learning and remembering new information. Whilst his peers in year 1 are working on their sight words, Callum is unable to recognize any sight words. He is described as a very social and talkative child although he doesn’t appear to always understand tasks despite being able to repeat the instructions. His parents are concerned as Callum’s older sibling also has learning difficulties. 

You can read the first part of this series here.

How do you classify the features of foetal alcohol spectrum disorder?

Features can be classified as primary or secondary:

  • Primary: inherent functional problems associated with the impact on the central nervous system of having been exposed to alcohol
  • Secondary: social, emotional and vocational consequences that arise over time as a result of chronic poor fit between the person and their environment

Primary symptoms

  1. Changes to facial features
  2. Structural defects
  3. Central nervous system involvement
  4. Growth retardation

Secondary symptoms

Difficulties arising from a mismatch between the young persons’ skill set and their environment include:

  • Disrupted schooling
  • Trouble with law enforcement
  • Legal confinement eg. Detention, jail, psychiatric care
  • Inappropriate sexual behaviour
  • Drug and alcohol abuse
  • Comorbid mental health diagnoses

It was noted by Streissguth et al in 2004 that one of the strongest correlates of adverse outcomes was lack of early diagnosis; the longer the delay in receiving diagnosis, the greater the odds of adverse secondary outcomes.

How are the primary symptoms further classified?

Facial features

The characteristic facial features of FASD are:

  1. Short palpebral fissures
  2. Thin vermillion border
  3. Smooth philtrum

Even when present at birth, these features become harder to detect as the child ages as well as being more difficult to recognize with cultural diversity.

Spectrum of children with FASD

Up to date

Other facial features that may be seen but are not included in the diagnostic criteria include:

  • Midface hypoplasia
  • Epicanthal folds
  • Reduced interpupillary distance
  • Flat nasal bridge
  • Long philtrum
  • Anteverted nares
  • Reduced intercanthal distance
  • Railroad track ears

Structural defects

Structural defects are seen in a variety of organ systems outside of the CNS. Defects include:

  • Cardiac
    • ASD
    • VSD
    • Conotruncal defects eg. Tetralogy of Fallot
  • Skeletal
    • Pectus – excavatum or carinatum
    • Hemivertebrae
    • Scoliosis
    • 5th finger clinodactyly (40%!)
    • Camptodactyly
  • Renal
    • Aplastic/dysplastic/hypoplastic kidney
    • Horseshoe kidney
    • Ureteral duplications
    • Hydronephrosis
  • Ocular
    • Ptosis
    • Strabismus
    • Optic nerve hypoplasia
    • Refractive problems
  • Auditory
    • Conductive or sensorineural hearing loss

         Clinodactyly

http://congenitalhand.wustl.edu/2012/07/clinodactly.html

 

     Camptodactyly

http://congenitalhand.wustl.edu/2012/03/camptodactyly.html

 

CNS involvement

Even if not meeting criteria for FAS, 70% of children with heavy prenatal alcohol exposure show neurobehavioural effects. There is variable expressivity of symptoms when comparing individuals, and even within the one child, symptoms may vary from day-to-day.

Defects may be structural or functional. Microcephaly (head circumference <3rd centile) is present in 12% with FASD. Neuroimaging may reveal reduction in size or change in shape of the corpus callosum, cerebellum, or basal ganglia.

Abnormalities on neurological examination include:

  • Abnormal tone
  • Abnormal reflexes
  • Cranial nerve deficits
  • Poor coordination and balance
  • Visual-motor difficulties
  • Difficulty with motor sequence
  • Right-left confusion

Functional abnormalities often occur in multiple domains including:

  • Cognitive impairment (20% with FAS have an IQ <70)
  • Difficulties with executive function eg. Poor organisation and planning
  • Poor motor function eg. Messy handwriting
  • Problems with hyperactivity, concentration and attention
  • Difficulties with social skills and adaptive function eg. Poor understanding of social cues

Who can diagnose FASD?

Evaluation of FASD is ultimately done using a multidisciplinary team of specialists including paediatrician, speech pathologist, occupational therapist, psychologist, physiotherapist, social worker +/- neurologist +/- geneticist.

What are the diagnostic criteria?

A diagnosis of FASD can be subdivided into 2 subcategories:

  1. FASD with 3 sentinel facial features
  2. FASD with less than 3 sentinel facial features

To assess an individual with prenatal alcohol exposure and/or suspected FASD, the following essential criteria must be considered:

  1. Maternal alcohol use and other exposures
  2. Neurodevelopmental impairment
  3. Facial and other physical features

 

Australian guide to the diagnosis of fetal alcohol spectrum disorder (FASD)

How can you assess maternal alcohol use?

Australian guide to the diagnosis of fetal alcohol spectrum disorder (FASD)

How to assess sentinel facial features?

  1. Small palpebral fissures (reduced distance between the endocanthium and the exocanthium)
  1. Smooth philtrum (Rank 4 or 5 on the Washington Lip-Philtrum Guide)
    • Charts vary depending on ethnicity
  2. Thin upper lip (Rank 4 or 5 on the Washington Lip-Philtrum Guide)
    • Charts vary depending on ethnicity

**t is important that the child DOES NOT smile during assessment of the philtrum/lip as this can alter lip thinness and philtrum thickness (see picture series B)**

Lip-philtrum assessment guide 

Up to Date

 

 

References

Weitzman C, Rojmahamongkol P. 2017 August 8.  “Fetal alcohol spectrum disorder: Clinical features and diagnosis “. In: UpToDate, Post TW (Ed), UpToDate, Waltham, MA

Australian Medical Association. 2016 August 24. “Fetal Alcohol Spectrum Disorder (FASD) – 2016.” Barton, ACT. Link: https://ama.com.au/position-statement/fetal-alcohol-spectrum-disorder-fasd-2016

Bower C, Elliot E. 2016 April. “Australian guide to the diagnosis of fetal alcohol spectrum disorder (FASD).” Australian Government Department of Health. Available at: http://www.apsu.org.au/assets/Uploads/20160505-rep-australian-guide-to-diagnosis-of-fasd.pdf

McDougall S, Mclean S. 2014. “Foetal alcohol spectrum disorders: current issues in awareness, prevention and intervention.” Child Family Community Australia. Available at: https://aifs.gov.au/cfca/sites/default/files/publication-documents/cfca-paper29-fasd.pdf

Streissguth, A. P., Bookstein, F. L., Barr, H. M., Sampson, P. D., O’Malley, K., & Young, J. K. (2004). Risk factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. Journal of Developmental and Behavioural Pediatrics, 25(4), 228–238. Hume et al., 2009, p. 6

Hume, S., Rutman, D., Hubberstey, C., Lentz, T., & Van Bibber, M. (2009). Key worker and parent support program: Final formative evaluation report.

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About 

Mary is an advanced trainee in General Paediatrics/Community and Developmental Paediatrics. Has called Townsville home for the last decade. Outside of work, she enjoys eating and Crossfit (one of 'those people'!)