How Pitt-Hopkins Syndrome manifests itself in children

Pitt-Hopkins Syndrome is characterized by a neurodevelopmental, mental retardation and developmental disorder of facial features. Even seizures are frequent, they have respiratory problems and many of these children do not even get to utter basic words from their mouths.

They are defined by these main features and it is not difficult to find this type of disease anywhere in the world. The incidence traits of this disease usually represent 1 / 35.000 to 1 / .300.000 and it manifests itself in any sex and in any ethnic group.

Characteristic symptoms of Pitt-Hopkins Syndrome

Physical problems

• Their physical appearance presents facial features different from the usual ones. The eyes are more sunken and the eyebrows are very thin, the mouth is much larger with widely spaced teeth and thick lips, the ears are thicker and the pavilions are cup-shaped and the nose is usually pronounced and curved.
• Its growth is usually small, they do not grow enough in height and microcephaly and the size of the head is below the 3rd percentile.
• The testicles are usually not descended (cryptorchidism) and in many cases it usually requires surgical correction.
• The spine has scoliosis and the feet often have deformities like flat, small and thin feet.
• En the sight have problems strabismus and myopia is usually very common.

Psychomotor problems

• From birth you have to have pay special attention to its development, as it tends to take place more slowly. Their abilities such as sitting, walking, feeding, grasping objects, or even talking take much longer to develop.
• Many of them do not get to speak and those who manage to do so do so through gestures or short phrases.
• Your muscle tone is often lowered (hypotonia). It is usually observed in babies who tend to have problems eating due to having difficulties in mobilizing the muscles that surround the mouth.
• They usually present sudden movements, mainly with the continuous shaking of the arms.
• In the coordination of arms and legs they usually have difficulties, show ataxia.

Added problems

• Seizures are very common in people with Pitt-Hopkins Syndrome.
• Breathing is abnormal. They tend to breathe faster or slower, coming to a stop (apnea). For some cases, it must be used superficially (with hyperventilation). The child must be observed in case they may present this type of incident in their breathing, especially if they have been subjected to some state of anxiety, excitement or extreme fatigue.
• Gastrointestinal problems are common, mainly with chronic constipation. It usually occurs a lot in infancy and childhood and they have to use medications to alleviate the problem. In other cases, reflux appears, with pain, irritability and vomiting.

Treatment for Pitt-Hopkins Syndrome

There is no cure for this syndrome, but there are ways to manage the signs and symptoms. Since they are babies, occupational therapies can already be included for the best possible development in their movements, speech and feeding.

• Special and individualized education for preschool and school-age children. This type of education will be complemented with physical therapy activities, physical therapy and speech to improve hypotonia and language problems, and sensory stimulation with the music therapy or creative activities related to music.
• Medication administration for breathing problems autistic disorders.
• Treatments for seizures, constipation, orthopedic and vision problems. They will be helped with materials necessary for their mobility such as wheelchairs, walkers and adaptable strollers.