Cite this article as:
Mary Hardimon. Clinical features and diagnosis, Don't Forget the Bubbles, 2017. Available at: https://doi.org/10.31440/DFTB.12577
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.
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
Changes to facial features
Structural defects
Central nervous system involvement
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.
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:
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
Evaluation of FASD is ultimately done using a multidisciplinary team of specialists including paediatrician, speech pathologist, occupational therapist, psychologist, physiotherapist, social worker +/- neurologist +/- geneticist.
Small palpebral fissures (reduced distance between the endocanthium and the exocanthium)
Assess using palpebral fissure length charts
When measured in photographs, the length is often underestimated
Scandanavian (Stromland) charts if a child is under 6 years of age
Canadian (Clarren) charts if a child is over 6 years
Easy to use calculator which will determine your standard deviations –
Smooth philtrum (Rank 4 or 5 on the Washington Lip-Philtrum Guide)
Charts vary depending on ethnicity
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:
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 Hardimon
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'!)
Author: Mary HardimonMary 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'!)
Clinical features and diagnosis
Tags: FASD, fetal alcohol syndrome
Mary Hardimon. Clinical features and diagnosis, Don't Forget the Bubbles, 2017. Available at:
https://doi.org/10.31440/DFTB.12577
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 symptoms
Secondary symptoms
Difficulties arising from a mismatch between the young persons’ skill set and their environment include:
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:
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:
Structural defects
Structural defects are seen in a variety of organ systems outside of the CNS. Defects include:
Clinodactyly
https://congenitalhand.wustl.edu/2012/07/clinodactly.html
Camptodactyly
https://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:
Functional abnormalities often occur in multiple domains including:
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:
To assess an individual with prenatal alcohol exposure and/or suspected FASD, the following essential criteria must be considered:
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?
**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:
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.
About Mary Hardimon
View all posts by Mary Hardimon