5-year old Josie is brought in for assessment by her mother Beth because of her ‘difficult’ behaviour.
On questioning, Beth tells you that Josie is impulsive and has always had trouble focusing and following instructions. She is a ‘poor sleeper’. She still has ‘huge tantrums’ despite her parent’s best efforts. At times Josie can become very angry and lashes out, but afterwards is very sorry. Beth tells you that Josie normally tries very hard to do the right thing.
Josie enjoys playing with her little sister, but she had problems fitting in at pre-school and now during her first year at school. Her teacher has noticed that Josie doesn’t seem to remember things well.
Physical examination is normal apart from Josie appearing small for her age.
Beth is at a loss to know how to deal with Josie and is hoping for an assessment which might reveal the cause of her challenging behaviour.
What serious condition should be considered in your differential diagnosis?
Josie is displaying signs that may be consistent with Fetal Alcohol Spectrum Disorder (FASD).
FASD results from intrauterine exposure to alcohol and is the most common nonheritable cause of intellectual disability. FASD is commonly missed or misdiagnosed, preventing affected children from receiving timely services.
The Australian Guide to the diagnosis of Fetal Alcohol Spectrum Disorder (FASD) states that a diagnosis of FASD requires evidence of prenatal alcohol exposure and severe impairment in three or more domains of central nervous system structure or function.1 Other features include characteristic facial abnormalities and growth retardation. The diagnosis of FASD is complex, and ideally requires a multidisciplinary team of clinicians.
To learn more about the diagnosis and prevention of FASD, watch our free on-demand webinar titled Understanding and Preventing Fetal Alcohol Spectrum Disorder.
Bower C, Elliott EJ 2016, on behalf of the Steering Group. Report to the Australian Government Department of Health: “Australian Guide to the diagnosis of Fetal Alcohol Spectrum Disorder (FASD)” (ISBN. 978-0-6481297-4-5).
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