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Which are the symptoms of Pitt-Hopkins Syndrome?

See the worst symptoms of affected by Pitt-Hopkins Syndrome here

Pitt-Hopkins Syndrome symptoms

Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder that affects the development and functioning of various body systems. It is caused by a mutation or deletion in the TCF4 gene on chromosome 18. Individuals with PTHS often exhibit a distinct set of symptoms that can vary in severity.



Intellectual Disability: One of the hallmark features of Pitt-Hopkins Syndrome is intellectual disability. Individuals with PTHS typically have moderate to severe cognitive impairment, with an average IQ ranging from 40 to 60. Learning difficulties, delayed language development, and impaired problem-solving skills are common.



Distinct Facial Features: Many individuals with PTHS have characteristic facial features that can aid in diagnosis. These features may include a prominent forehead, deep-set eyes, a wide nasal bridge, a broad and prominent nasal tip, a wide mouth with a tented upper lip, and a pointed chin.



Severe Speech Impairment: Speech and language difficulties are prevalent in individuals with PTHS. Most affected individuals have limited verbal communication skills and may rely on non-verbal methods such as gestures, signs, or augmentative communication devices to express themselves.



Motor and Developmental Delays: Children with PTHS often experience delays in reaching developmental milestones. They may have delayed motor skills, including walking and coordination. Hypotonia, or low muscle tone, is also common and can contribute to difficulties with mobility and posture.



Repetitive Behaviors: Individuals with PTHS may engage in repetitive behaviors or have obsessive-compulsive tendencies. These behaviors can include hand-flapping, rocking, spinning objects, or fixating on specific interests or routines.



Breathing Problems: Respiratory issues are a significant concern in PTHS. Many individuals experience episodes of rapid breathing (hyperventilation) followed by periods of apnea, where breathing temporarily stops. Sleep apnea and chronic hyperventilation can disrupt sleep patterns and affect overall health.



Seizures: Epilepsy is common in individuals with PTHS, with up to 80% of affected individuals experiencing seizures. Seizure types can vary and may include generalized tonic-clonic seizures, absence seizures, or focal seizures.



Behavioral Challenges: Individuals with PTHS may exhibit challenging behaviors, including aggression, self-injury, and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. These behaviors can be challenging for both the affected individual and their caregivers.



Gastrointestinal Issues: Many individuals with PTHS experience gastrointestinal problems such as chronic constipation, gastroesophageal reflux disease (GERD), and feeding difficulties. These issues can contribute to discomfort, poor weight gain, and nutritional deficiencies.



Other Possible Features: While not present in all individuals with PTHS, there are additional features that can occur. These include heart defects, kidney abnormalities, hearing loss, vision problems, dental issues, and hormonal imbalances.



It is important to note that the severity and combination of symptoms can vary widely among individuals with Pitt-Hopkins Syndrome. Early diagnosis and intervention, including speech therapy, occupational therapy, and educational support, can greatly improve the quality of life for individuals with PTHS and their families.


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Translated from spanish Improve translation
Children with syndrome Pitt Hopkins did not always have features clearly distinctive. At times, his alterations go unnoticed during the first few months/years of life. Usually take in acquiring developmental milestones, such as maintaining the sitting position, rolling over on themselves, crawling, walking... The language is usually absent in the majority of patients, although there are impacts under the age of speech. Use the sign language and communication through image is usually of great help, because the syndrome Pitt Hopkins usually understand most of the things they are capable of expressing.

Children are very happy, that they empathize very well with people but can show spontaneous changes in mood without apparent cause. Tend to be children moved.

Your head is usually somewhat smaller. The front may show a posterior position with respect to the cheeks or jaws. The base of the nose is wide. The mouth is broad with thick lips, which, in its upper portion can be used to draw a kind of “M” or “arch-shaped arrow”. The teeth tend to be separated.

The end of their fingers is usually to be broadened and the nails tend to be convex. Under the surface of the fingers is seen a sort of small pillow (“fetal pads”)

There is hypotonia, that is to say, that his muscle tone is low; initially, it may manifest itself with problems in the suction; subsequently, those who achieve ambulation can do so rigidly and with some degree of incoordination. To perform intentional actions can be complicated because they have difficulties to plan them and, also, by its incoordination. It is not hard to see them making movements of “flapping” with both arms to show his state of arousal.

Two of the alterations are more frequent in these children are epilepsy and alterations of the breath. In regard to the status seizure, occurs in many of the children with syndrome Pitt Hopkins and responds well to the usual treatments. The alterations of the respiration are frequent, and usually appear between 5 and 10 years of age. Tend to display initial periods of hyperventilation (breathing very fast and in a row), followed by a period of apnea (breath-holding). The pattern may be repetitive or appear any of the two phases independently. The phases of hyperventilation are so marked that they can end up with abdominal distension by passage of large amount of air to the digestive tract.

Constipation is a workhorse as usual. Its origin is not clear. A diet rich in fiber and the use of laxatives are the options most commonly used.

People with syndrome Pitt Hopkins may have different traits in common, but these traits, will be lower than they have with other members of your family. Therefore, all the above-mentioned characteristics will exist, in greater or in any measure, depending on each individual.

Posted Sep 18, 2017 by Chiqui 2010

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