Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome

Antonio Martínez Monseny, María Pilar Póo and Mercedes Serrano
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Antonio Martínez Monseny: Genetic Medicine and Rare Diseases Pediatric Institute (IPER), Hospital Sant Joan de Déu, Barcelona, Spain
María Pilar Póo: Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain
Mercedes Serrano: Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain

Global Journal of Intellectual & Developmental Disabilities, 2017, vol. 1, issue 5, 86-88

Abstract: Pitt-Hopkins syndrome (PTHS) (MIM#610954, ORPHA2896) is a rare autosomal dominant condition due to TCF4 gene mutation or deletion. PTHS is characterized by distinctive facial features, developmental delay, moderate-to-severe intellectual disability, epilepsy, constipation, and stereotypic movements [1,2]. Peculiarly, episodic hyperventilation and/or breath-holding while awake is presented by more than 50% of patients and less than half of them experience a spontaneous disappearance of these spells without treatment [3].

Keywords: Journal of Intellectual; Intellectual & Developmental; Intellectual & Developmental Disabilities; Journal of Intellectual & Developmental Disabilities; journal of intellectual disability research; journal of intellectual disabilities; journal of intellectual disability research impact factor; journal of intellectual property studies; open access publishers in usa; juniper publishers review (search for similar items in EconPapers)
Date: 2017
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Persistent link: https://EconPapers.repec.org/RePEc:adp:jgjidd:v:1:y:2017:i:5:p:86-88

DOI: 10.19080/GJIDD.2017.01.555573

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