D. Willekens et al., Three young children with Smith-Magenis syndrome: Their distinct, recognisable behavioural phenotype as the most important clinical symptoms, GEN COUNSEL, 11(2), 2000, pp. 103-110
Three young children with Smith-Magenis syndrome: their distinct, recognisa
ble behavioural phenotype as the most important clinical symptoms: We repor
t on the development and behaviour of three young children with Smith-Magen
is syndrome (SMS), del 17p11.2. The behaviour problems and the psychomotor
delay in preschool children with SMS are often more striking than the dysmo
rphic features and can serve as a useful clue to the diagnosis. We compare
the behaviour with reported data. The behaviour problems in the three four
year olds include very demanding behaviour, severe temper tantrums, hyperac
tivity, aggressive behaviour, self injurious behaviour, sleeping problems a
nd stereotypic behaviour. Head banging, hand, wrist or finger biting are pr
esent. Onychotyllomania is not observed. Insertion of objects in the mouth
as well as excessive nose picking is very frequent, although polyembolokoil
omania is not present. The so called self hug when excited is present in on
e child. The behaviour problems and psychomotor delay represent a major man
agement problem for the parents.