Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Pitt-Hopkins syndrome is a rare genetic form of severe psychomotor delay, caused by mutations in transcription cell factor-4 gene and characterized by distinctive dysmorphic features and abnormal breathing pattern. The current report describes the polygraphic features of the syndrome's typical breathing pattern in a patient both in wakefulness and in sleep. The control of these breathing alterations is important to prevent the neurological sequelae linked to chronic cerebral hypoxemia in early ages. No data are available on effective treatment options for breathing abnormalities of Pitt-Hopkins syndrome. The authors polygraphically documented a reduction of apneic and hypopneic phenomena, with a significant improvement in saturation values, after the introduction of sodium valproate.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/0883073811435917 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
High Prevalence of Eosinophilic Esophagitis and Hypogammaglobulinemia in Patients with Pitt Hopkins Syndrome.
Ann Allergy Asthma Immunol
August 2025
University of Virginia School of Medicine, Division of Allergy and Immunology, Charlottesville, VA. Electronic address:
Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.
Transl Sci Rare Dis
February 2025
Department of Psychology, The University of Alabama at Birmingham, Birmingham, AL, USA.
Background: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by mutations in the gene. The majority of individuals with PTHS have severe intellectual disability, language impairments, and gross motor impairments (e.g.
View Article and Find Full Text PDFRepurposing nicardipine leads to improved development in a young patient with Pitt-Hopkins syndrome.
Front Pharmacol
July 2025
Center of Rare Diseases TUM - Development, Munich, Germany.
We describe a drug repurposing treatment involving the use of nicardipine in a young patient with Pitt-Hopkins syndrome (a rare neurodevelopmental disorder that results from variants of TCF4 gene) as a bench-to-bedside approach. Loss of TCF4 function in Pitt-Hopkins syndrome leads to increased excitability of Na1.8 in neurons.
View Article and Find Full Text PDFTranscription factor 4 (TCF4) is a proneural basic helix-loop-helix transcription factor that plays a critical role in brain development and is associated with a variety of psychiatric disorders including autism spectrum disorder (ASD), major depressive disorder, and schizophrenia. Autosomal dominant mutations in result in a profound neurodevelopmental disorder called Pitt-Hopkins Syndrome (PTHS). Germline TCF4 loss-of-function (LOF) studies using human and mouse models have identified dysregulation in neural cell proliferation, genesis, and specification which lead to disruption in neuronal, astroglial and oligodendroglial lineages.
View Article and Find Full Text PDFTcf4 Deficiency causes recurrent seizures in mice.
Prog Neurobiol
August 2025
Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, United States; Helen Wills Neuroscience Institute, University of California, Berkeley, CA 94720, United States. Electronic address:
Transcription factor 4 (TCF4) is essential for the normal development and function of the central nervous system. Haploinsufficiency of TCF4 due to deletions or mutations causes Pitt-Hopkins Syndrome (PTHS), a lifelong neurodevelopmental disorder characterized by seizures, autism, and intellectual disability. Previous studies have shown that various mutations, including deletion of exon 4 in the mouse Tcf4 gene in neural progenitors, neurons, or oligodendrocytes, did not reproduce the seizure phenotype.
View Article and Find Full Text PDF