El Pitt-Hopkins syndrome is an ultrarara disease, there are barely 50 cases in the world diagnosed. It is not really known how many people are affected by it, because testing the diagnosis is very expensive, so we talk about a disorder that affects the first world, because this is where it has been possible to diagnose. It is known that the cause is genetic, mutation de novo that affects the TCF4 gene.
Pitt-Hopkins syndrome is a neurodevelopmental disorder. It is characterized by mental and developmental retardation, which can go from moderate to severe. Other complications associated with this syndrome are respiratory problems, recurrent seizures, epilepsy.
Is there a prenatal diagnosis of Pitt-Hopkins syndrome?
The onset of Pitt-Hopkins syndrome does not come from a genetic alteration present in either parent. When Hopkins syndrome is detected in the child both parents should be tested, mainly to detect the presence of mosaicism. The chances that this mutation will occur again in another pregnancy are very low. The possibility of recurrence in the same family is less than 1%.
Prenatal diagnosis is possible, but it is usually only done when the couple has already had a baby with this syndrome. Prenatal diagnosis is made by performing a chorial biopsy or amniocentesis. The first test can be raised from 11 weeks of gestation and usually gives faster results. Amniocentesis is usually done at the 16th week of gestation.
To date, testing for fetal DNA in maternal blood does not allow diagnosis in patients with children with previous Pitt-Hopkins syndrome.
What are children with Pitt-Hopkins syndrome
In general these children are very cheerful, they empathize very well with people, although they can show spontaneous mood changes for no apparent cause. They’re usually moving children. They are able to understand much more than they are able to express. Most of these children can’t talk, but they do use sign language, or communicate through images. They have difficulties in planning and coordination. It is easy to see them “flutter” with both arms to show their state of excitement.
In some pages that talk about Pitt-Hopkins syndrome speak of distinctive facial features such as thin eyebrows, somewhat smaller head, sunken eyes, prominent nose with an elevated nasal bridge, a pronounced double bend of the upper lip, what is called Cupid’s arch, a wide mouth with lips thick, and widely spaced teeth. Ears are usually thick and cup-shaped.
However, there are other boys and girls who do not have these distinctly distinctive features. Sometimes their alterations go unnoticed during their first months or years of life. Other non-facial features are more obvious such as the delay in maintaining the sitting position, circling on themselves, crawling, walking…
Treatment in this syndrome depends on the specific symptomatology that each patient presents. Physical, occupational therapy, physiotherapy, neurologists, speech therapists, insoles and prostheses are very beneficial. Surgery may also help in treatment
Normally there is hypotonia, that is, low muscle tone, hence the importance of physiotherapists for these children. Another frequent disturbance is epilepsy and breathing disturbances. As for convulsive status, children respond well to usual treatments. Breathing disturbances, which usually occur between 5 and 10 years of age, alternate initial periods of hyperventilation followed by a period of apnea. For the issue of chronic constipation, the origin of which is not clear, a diet rich in fiber and the use of laxatives is recommended.
The goal of dedicating September 18 to Hopkins syndrome is to publicize this disease and try to improve the quality of life of patients and their families.