Pitt Hopkins Awareness Day: A Rare Syndrome

Pitt Hopkins Awareness Day is celebrated on September 18. Do you know what this rare disease consists of? Find out today!
Pitt Hopkins Awareness Day: A Rare Syndrome

Last update: 01 November, 2021

September 18 marks Pitt Hopkins Awareness Day, a genetic disease that most of the population is unaware of. For this reason, and to give visibility to people suffering from this syndrome, we’ve decided to write the following article.

This rare disease was first described in 1978 by Two Australian doctors by the names of David Pitt and Ian Hopkins, who give it its name. So, do you want to know why it occurs, what it involves, and if there’s a possible treatment? Then pay attention to what we’ll explain below.

Pitt Hopkins syndrome

Pitt Hopkins syndrome is a rare genetic disease that results from an insufficient expression of the TCF4 gene on chromosome 18. Today, experts aren’t exactly sure how many people it affects. However, according to the Pitt Hopkins Foundation, some estimates speak of a possible incidence of 1 in 35,000 births to 1 in 300,000 births.

A child with down syndrome and his sister playing on a laptop and celebrating.

As for the main characteristics of this disease, they include the presence of moderate or severe intellectual disability, facial dysmorphia, respiratory problems, and frequent seizures (epilepsy). Specifically, the symptoms that individuals with this syndrome usually present are the following:

  • Microcephaly
  • Sunken eyes
  • Strabismus
  • Myopia
  • Wide and prominent nasal bridge
  • A wide mouth and thick lips
  • Widely spaced teeth
  • Ears with large helices
  • A wide and shallow palate
  • Absence of language
  • Delayed postnatal growth
  • Delayed psychomotor development
  • Hypotonia
  • A rigid, unstable, and late-acquired gait
  • Attacks of hyperventilation, which may be followed by a period of apnea (breath holding)
  • A joyful and happy appearance
  • Spontaneous mood swings without apparent cause

It’s important to note that a person with Pitt-Hopkins syndrome doesn’t always have all of these symptoms. In addition, many of these alterations go unnoticed during the first months or years of the child’s life.

Treatment of the disease

There’s no specific treatment for Pitt Hopkins syndrome. So, it’ll depend on each case and the characteristics and symptoms of the child. However, in general, we can speak of a treatment that involves a multidisciplinary approach, which includes the following:

  • Physiotherapy, to work on difficulties regarding psychomotor development.
  • Occupational therapy, in order to promote the highest and best possible performance in daily life activities.
  • Speech therapy, to work on alterations in language development and stimulate communication through
  • Augmentative and Alternative Communication Systems (AACS).
  • Ophthalmology, to solve eye problems.
  • Dentistry, for dental and orthodontic intervention.
  • Pharmacological treatment, to control episodes of epilepsy and hyperventilation crises, as well as to treat gastroesophageal reflux, if any of these symptoms are present.
A child playing with toys at a table.

About Pitt Hopkins Awareness Day

In conclusion, the fact that there’s a Pitt Hopkins Awareness Day, whose celebration takes place on September 18, makes it possible to inform society about the existence of this rare disease. At the same time, it helps to raise awareness and sensitize the population about its characteristics and consequences.

Therefore, children suffering from this syndrome and their families feel, in a way, that their community understands and supports them. However, this shouldn’t occur only on a specific day. Rather, throughout the year, we must try to support non-profit associations.

For example, this is the case of the Pitt Hopkins Research Foundation, which dedicates itself to researching Pitt-Hopkins Syndrome and providing information about the syndrome. They do so with the aim of improving the quality of life of these people and their immediate environment.

In fact, this collective support is essential to making progress in the treatment of this rare disease. That’s because there’s currently no cure or definitive and effective treatment for Pitt Hopkins syndrome.

In this regard, and to conclude, it’s worth mentioning the following phrase by the Japanese writer Ryūnosuke Akutagawa: “Individually, we are one drop. Together, we are an ocean.” So, let’s join forces and fight together to ensure that all people feel included in society and can enjoy a full life, regardless of their uncommon characteristics.

All cited sources were thoroughly reviewed by our team to ensure their quality, reliability, currency, and validity. The bibliography of this article was considered reliable and of academic or scientific accuracy.

  • Ardinger, H. H., Welsh, H. I. y Saunders, C. J. (1993). Pitt-Hopkins Syndrome. GeneReviews [Internet]. Seattle, WA: University of Washington.

This text is provided for informational purposes only and does not replace consultation with a professional. If in doubt, consult your specialist.