Pitt Hopkins Syndrome is a rare genetic disorder that affect chromosome 18. The syndrome is characterized by developmental delays, possible breathing problems that lead to hyperventilation , recurrent seizures or epilepsy, gastrointestinal issues, lack of speech and distinctive facial features. More is being learned about Pitt Hopkins Syndrome.
Severe cognitive impairment has often been present but since true intelligence is hard to measure as motor and speech difficulties are often also present. Pitt Hopkins Syndrome is considered an Autism Spectrum Disorder. Children with Pitt Hopkins Syndrome appear happy, excitable and frequently smiling and laughing. D. Pitt and I. Hopkins first diagnosed the syndrome and wrote about it in the Australian Pediatric Journal in 1978
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Thanks for educating me about Pitt Hopkins Syndrome. I didn't know about it until now.
ReplyDeleteI love when I find educative post like this one, and learn new things. Thank you for sharing.
ReplyDeleteI never heard of this before... thank you so much for bringing awareness... shell
ReplyDeleteI did not know about this until now. As parents, we must be vigilant in identifying the signs. Thanks for sharing this post.
ReplyDeleteWow, how interesting! I read your post with lots of interest. Thanks for sharing something so informative.
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