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VOLUME 13 , ISSUE 4 ( October-December, 2020 ) > List of Articles

REVIEW ARTICLE

Pitt-Hopkins Syndrome in Children

Sherin Nithya Suria Prakash

Citation Information : Prakash SN. Pitt-Hopkins Syndrome in Children. 2020; 13 (4):93-95.

DOI: 10.5005/jp-journals-10084-12140

License: CC BY-NC 4.0

Published Online: 01-03-2021

Copyright Statement:  Copyright © 2020; The Author(s).


Abstract

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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  1. Goodspeed K, Newsom C, Morris MA, Powell C, Evans P, Golla S. Pitt-Hopkins syndrome: a review of current literature, clinical approach, and 23-patient case series. J Child Neurol 2018;33(3):233–244. DOI: 10.1177/0883073817750490.
  2. Bedeschi MF, Marangi G, Calvello MR, Ricciardi S, Leone FPC, Baccarin M, et al. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. Eur J Med Genet 2018;60(11):565–571. DOI: 10.1016/j.ejmg.2017.08.004.
  3. De Winter CF, Baas M, Bijlsma EK, van Heukelingen J, Routledge S, Hennekam RCM. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. Orphanet J Rare Dis 2016;11(1):37. DOI: 10.1186/s13023-016-0422-2.
  4. Rannals MD, Page SC, Campbell MN, Gallo RA, Mayfield B, Maher BJ. Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt-Hopkins syndrome. Rare Dis 2018;4(1):e1220468. DOI: 10.1080/21675511.2016.1220468.
  5. Marangi G, Zollino M. Pitt-Hopkins syndrome and differential diagnosis: a molecular and development, cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child Neurol 2012;54(10):925–931. DOI: 10.1111/j.1469-8749.2012.04339.x.
  6. https://www.mc.vanderbilt.edu/documents/neurology/files.
  7. https://www.nlm.nih.gov/files.
  8. Peippo M, Ignatius J. Pitt-Hopkins syndrome. Mol Syndromol 2012; 2(3–5):171–180. DOI: 10.1159/000335287.
  9. Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, et al. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat 2012;33(1):64–72. DOI: 10.1002/humu.21639.
  10. https://www.nature.com/articles/gim2009121.
  11. https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome.
  12. https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome.
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