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JOURNAL TITLE: Pondicherry Journal of Nursing
Pitt-Hopkins syndrome (PTHS) is the very rarest genetic mutation nervous system disorder. The children who are affected have classic facial features, high mental disability, global developmental delay, speech impairment, repetitive seizure complaints, and respiratory system abnormalities. In addition, the children have improper coordination (ataxia), repeated purposeless hand movements, sleep disorders, shortsightedness, and frequent constipation. Abnormalities in behavioral pattern are common, even though the children are social being with joyful disposition. Certain symptoms in some affected children resemble the symptoms of autism disorder. The unique clinical features of this condition are that the severity can vary from one child to another. The causative factor for this PTHS is changes in mutation at TCF4 gene. This mutation happens spontaneously in almost all the incidences, not because of the hereditary from family.
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