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Which are the symptoms of Pitt-Hopkins Syndrome?
See the worst symptoms of affected by Pitt-Hopkins Syndrome here
Translated from spanish
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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.
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
