[…] in heterozygosis, also present in the father. [elsevier.es]

Case presentation The patient was 4-year-old female child who presented with psychomotor delay and language impairment. She had frequent attacks of the respiratory tract and eye infections. [jmhg.springeropen.com]

Diagnosis The diagnosis of PTHS is based on the typical clinical presentation confirmed by molecular genetic methods. At present, no generally accepted diagnostic criteria have been published. [karger.com]

Epilepsy was present in 2/5 with a large deletion, 2/7 with a missense variant, and 1/3 with a nonsense variant. Abnormal EEGs were present in 3/5 with a large deletion, 4/7 with a missense variant, and all 3 with a nonsense variant. [jtggjournal.com]

• Walking Delay

  To assess the relationship between developmental motor abilities and abnormal EEGs, we dichotomized delays in ambulation to at least 1-year delayed or at least 3-year delayed onset of ambulation. [jtggjournal.com]

Clinical Evaluations and Workup If the diagnosis is suspected by exam and history, molecular testing can be ordered. [rarediseases.org]

Genetic workup is essential in identification and management guidance in these populations. [pubmed.ncbi.nlm.nih.gov]

[…] and treatment of disorders of the gastrointestinal tract), an ophthalmologist (a physician who specializes in the diagnosis and treatment of disorders of the eye), a pulmonologist (a physician who specializes in the diagnosis and treatment of disorders [rarediseases.org]

The advantage of gene therapy over pharmacological treatment is that it would solve the problem at its source. However, the search for new drugs is also promising,” Papes said. [agencia.fapesp.br]

Mowat–Wilson syndrome is seen in early infancy and is characterized by distinctive facial abnormalities.[12] Treatment[edit] Currently there is no specific treatment for this condition. It is based on symptomatology. [en.wikipedia.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Profuse drooling has been reported, but no treatment options have been published. [karger.com]

Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis. Infants with Pitt-Hopkins syndrome may have diminished muscle tone (hypotonia) and appear abnormally “floppy.” [rarediseases.org]

PMID: 25495786 Prognosis Veersema TJ, van Schooneveld MMJ, Ferrier CH, van Eijsden P, Gosselaar PH, van Rijen PC, Spliet WGM, Mühlebner A, Aronica E, Braun KPJ Epilepsy Behav 2019 May;94:209-215. Epub 2019 Apr 8 doi: 10.1016/j.yebeh.2019.03.009. [ncbi.nlm.nih.gov]

Larger studies are needed to confirm this observation, which may guide the prognosis and diagnosis of epilepsy in PTHS. PTHS patients have three types of paroxysmal events: epileptic seizures, abnormal breathing spells, and motor stereotypies. [jtggjournal.com]

Point mutations in ZBTB18 and HNRNPU were implicated etiologies. [jmhg.springeropen.com]

PTHS is likely underdiagnosed, and clinicians should use comprehensive genetic testing methods with patients with developmental delays to investigate the possible presence of an underlying genetic etiology. [cambridge.org]

Altogether 78 PTHS patients with abnormalities of the TCF4 gene have been published since 2007 when the etiology of PTHS was revealed. [karger.com]

Etiology Veersema TJ, van Schooneveld MMJ, Ferrier CH, van Eijsden P, Gosselaar PH, van Rijen PC, Spliet WGM, Mühlebner A, Aronica E, Braun KPJ Epilepsy Behav 2019 May;94:209-215. Epub 2019 Apr 8 doi: 10.1016/j.yebeh.2019.03.009. [ncbi.nlm.nih.gov]

Epidemiology No population-based prevalence or incidence figures for PTHS are available at present. Until 2007, PTHS was rarely reported, but increasing numbers of patients have been published since molecular testing became available. [karger.com]

Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. J. Neurosci. 2018, 38, 918–936. [Google Scholar] [CrossRef] Li, H.; Zhu, Y.; Morozov, Y.M.; Chen, X.; Page, S.C.; Rannals, M.D.; Maher, B.J.; Rakic, P. [mdpi.com]

Physiotherapy to prevent contractures is important as the patients’ own ability to move independently is very limited. Myopia is frequent in PTHS patients and might be underdiagnosed. [karger.com]