One of the most frustrating aspects of my early career was an inability to diagnose puzzling developmental abnormalities in children. As a medical student I can recall to my everlasting shame referring to FLKs (funny looking kids). Upon commencing rural practice parents would ask me to evaluate and diagnose their ‘different’ children or young adults. I could recognise syndromes such as Klinefelter, Marfan and fetal alcohol. However, two young men in particular with a history of poor school performance and learning difficulties, but who were managing to cope with protective family support, baffled me and their paediatricians.
Colin was an obese 20-year-old knock-about who presented with his mother because of his obesity and an incident in which he visited Melbourne and paid for a prostitute to visit his hotel room and pose naked for 30 minutes. No body contact occurred. His mother said that he had an IQ of about 75. On examination the only abnormal features were his short stature, obesity (BMI 35) and small genitalia. Managing his obesity was difficult since he had a great appetite. Mother was not impressed that we could not provide a diagnosis or even a treatment that would make him ‘normal’. Of course we learned in time that Colin had Prader–Willi syndrome.
Kevin was a 26-year-old farm hand who had a similar schooling history to Colin with intellectual handicap but no other neurological disorders or physical malformations. Like Colin he had impaired social interaction. He did have features of autism and on closer examination he had prominent ears, a long face and, unlike Colin, had macro-orchidism. Kevin in fact had Fragile X syndrome, which is the most common inherited cause known of developmental disability. DNA testing is now available to confirm diagnosis.
DISCUSSION AND LESSONS LEARNED
Forty-three years ago I was ignorant of the above and other causes of developmental disability. We now have excellent disability and genetic services available and referral as early as possible upon suspicion of one of the syndromes is very important. It should be emphasised that there is a variable spectrum of characteristic features—especially for Fragile X syndrome—and this makes detection difficult in some cases. Diagnosis has important implications for genetic counselling.