Happy Puppet Syndrome often goes undetected: Dr Mehta

 
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Mumbai, Jan 16 (UNI) As enough scientific research is not done here and professionals do not keep themselves updated, the 'Happy Puppet Syndrome' often goes undetected or misdiagnosed, said Dr Manjeet Mehta a Medical Geneticist.

In an exclusive chat with UNI, Dr Mehta informed, ''Some kids are born with the syndrome or pick it up in the age of one or two. It mostly occurs spontaneously. In India, there is not much awareness about the syndrome.'' Also known as the 'Angelman Syndrome', it is a rare neurological genetic disorder in which children have unusually happy demeanour that is laughing frequently for almost any reason, jerky movements and flapping of the hands similar to those of a marionette, or puppet. Hence the synonym 'Happy Puppet Syndrome'. This condition is characterised by a puppet-like gait, fits of laughter and characteristic facial features.

The patients have an abnormal head and facial features like a small head, deeply set eyes, peculiar open-mouthed face marked by a large, wide mouth, an underdeveloped upper jaw, widely spaced teeth, and continuous tongue protrusion.

''The most common age of diagnosis is between three and seven years when the characteristic behaviours and features become most evident,'' Dr Mehta explained.

''There is no standard course of treatment for 'Angelman Syndrome'. Physical therapy and adaptive devices may help patients with jerky gait. Early language evaluation and intervention is often recommended,'' Dr Mehta informed.

''The clinical features of 'Angelman syndrome' alter with age.

As adulthood approaches, hyperactivity and poor sleep patterns improve. The seizures decrease in frequency and often cease altogether and the EEG abnormalities are less obvious. With medicine and therapy the symptoms can be controlled,'' Dr Mehta concluded.

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