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

In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. [uniprot.org]

Parent-Rated Questionnaires The results of parent-rated questionnaires are presented in Table 2. [cambridge.org]

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]

We present the first case report of a child in Iraq with Pitt-Hopkins-like syndrome that was referred to the Welfare Children’s Hospital/Medical City of Baghdad because of her intellectual disability. [x-mol.com]

• Disability

  […] and find a way for managing and treating cases of learning disability. [jmhg.springeropen.com]

  Intellectual disability may result from different types of abnormal cellular processes and with widening the use of molecular gene analysis in cases of intellectual disability, underdiagnosed cases of Pitt-Hopkins and Pitt-Hopkins-like syndromes may be [x-mol.com]

  Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Exp Mol Med. 2013 May 3;45:e21. doi: 10.1038/emm.2013.32. Review. [medlineplus.gov]

  Disruption of TCF4 regulatory networks leads to abnormal cortical development and mental disabilities. Mol. Psychiatry 2019, 24, 1235–1246. [mdpi.com]

  Orpha Number: 221150 Definition Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing [rarediseases.info.nih.gov]

• Pathologist

  […] 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 of the lungs and breathing issues), a speech pathologist [rarediseases.org]

• Cyanosis

  These episodes can cause a lack of oxygen in the blood, leading to a bluish appearance of the skin or lips (cyanosis). In some cases, the lack of oxygen can cause loss of consciousness. [medlineplus.gov]

  Hands and feet may be cold or bluish in appearance due to cyanosis. Causes Pitt-Hopkins syndrome is caused by an unexpected change (mutation) in the TCF4 gene. [rarediseases.org]

  Hyperventilation may occur and is sometimes followed by apnea and cyanosis. Constipation is common. Microcephaly and seizures may occur. Hypopigmented skin macules have occasionally been reported. [en.wikipedia.org]

  This syndrome is characterized by a particular breathing pattern that appears in mid-childhood and manifests as paroxysms of dyspnea followed by apnea and occasional cyanosis. This breathing anomaly shows no relation to epilepsy [2,3,4]. [jmhg.springeropen.com]

• Lip Cyanosis

  These episodes can cause a lack of oxygen in the blood, leading to a bluish appearance of the skin or lips (cyanosis). In some cases, the lack of oxygen can cause loss of consciousness. [medlineplus.gov]

• Bruxism

  Squint eyes [ more ] 0000486 5%-29% of people have these symptoms Aggressive behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Autism 0000717 Brachycephaly Short and broad skull 0000248 Broad-based gait Wide based walk 0002136 Bruxism [rarediseases.info.nih.gov]

  Head shaking, head banging, body rocking, teeth grinding (bruxism) and hair pulling may also be seen. Children may repeatedly and repetitively play with a toy, and may show a fascination with one specific part of a toy. [rarediseases.org]

• Dry Skin

  At 4 years of age, the patient was referred to a paediatric genetics clinic; physical examination revealed dolichocephaly, prominent forehead, coarse hair and dry skin, bitemporal hair thinning, bulbous nose, fingers with bilateral clinodactyly, autistic [elsevier.es]

• Lacrimation

  She complained of recurrent attacks of eye infections and was diagnosed with lacrimal duct stenosis which occurred at the age of one and a half year. [jmhg.springeropen.com]

• Macrocephaly

  A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral [ncbi.nlm.nih.gov]

• Head Banging

  Head shaking, head banging, body rocking, teeth grinding (bruxism) and hair pulling may also be seen. Children may repeatedly and repetitively play with a toy, and may show a fascination with one specific part of a toy. [rarediseases.org]

• Stereotyped Behavior

  Is there a relationship between restricted, repetitive, stereotyped behaviors and interests and abnormal sensory response in children with autism spectrum disorders? Res Autism Spectr Disord. 2008;2(4):660–70. Article Google Scholar 75. [jneurodevdisorders.biomedcentral.com]

• Claustrophobia

  Many children experience claustrophobia when placed inside the scanner, so the acting clinician may give your child a mild sedative before scanning. [childrens.com]

• High Nasal Root

  Researchers have developed cell and rodent models to test therapies for Pitt–Hopkins.[4] Signs and symptoms[edit] PTHS can be seen as early as childhood.[5] The earliest signs in infants is the lower face and the high nasal root.[6] The facial features [en.wikipedia.org]

• Seizure

  Seizures including recurrent seizures that can be present from birth. Behavioral issues ranging from hyperactivity to aggression. [childrens.com]

  Focal seizures MedGen UID: 199670 •Concept ID: C0751495 • Disease or Syndrome A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. [ncbi.nlm.nih.gov]

  Definition A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. [uniprot.org]

  However, they share many of the same issues such as global developmental delay, seizures, lack of speech, breathing irregularities, and autistic features. [pitthopkins.org]

  The syndrome is characterized by intellectual dysfunction, seizures, language impairment, postnatal growth retardation, and microcephaly. [jmhg.springeropen.com]

• High Pain Threshold

  Most individuals have a high pain threshold. Additional symptoms can include excessive drooling (especially when younger), severe nearsightedness (myopia), crossed eyes (strabismus), and abnormal curving of the lens of the eye (astigmatism). [rarediseases.org]

• Poor Coordination

  Additional symptoms that can occur include poor coordination (ataxia), repetitive nonfunctional hand movements, constipation, sleep disturbances, and severe nearsightedness (myopia). [rarediseases.org]

• Responsiveness Decreasing

  […] reflex response Decreased reflexes [ more ] 0001265 Hypsarrhythmia 0002521 Infra-orbital crease Crease in skin under the eye Groove in skin under the eye [ more ] 0100876 Long philtrum 0000343 Mandibular prognathia Big lower jaw Increased projection [rarediseases.info.nih.gov]

• Mental Deterioration

  […] retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Severe global developmental delay 0011344 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 30%-79% of people have these symptoms Abnormal [rarediseases.info.nih.gov]

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

• Ventricular Hypertrophy

  The first examination of the neonate revealed right cryptorchidism and heart murmur; an echocardiography revealed peripheral pulmonary stenosis, tricuspid insufficiency, and left ventricular hypertrophy. [elsevier.es]

[…] 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]

Mowat–Wilson syndrome is seen in early infancy and is characterized by distinctive facial abnormalities.[10] Treatment[edit] Currently there is no specific treatment for this condition. It is based on symptomatology. [en.wikipedia.org]

The mission of the Pitt Hopkins Clinic is to improve quality of life and provide treatments – based on the most recent research – to children with this rare disease. [childrens.com]

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]

Thus, this case demonstrates the importance of having a treatment team that includes a neuropsychologist to improve quality of life for individuals with PTHS and their families. [cambridge.org]

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]

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]

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

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]

Once tests are complete, a plan will be created for your child that may include: Medication to prevent seizures, ease breathing and constipation. Diet to better manage constipation and other gastrointestinal issues. [childrens.com]