What is Rett syndrome?
Rett’s syndrome is a rare genetic disease. It is a neurological and developmental disorder that affects almost exclusively girls. Rett syndrome causes progressive impairments of the ability to use muscles, speak, walk, eat.
Usually children have a normal development since their first 6 to 18 months of life. Then they have a regression and lose all the skills they have learned (crawl, walk, speech, … )
Rett syndrome definition
Rett syndrome is often misspelled as Retts syndrome or even Rhett syndrome. Actually it is named after doctor Andreas Rett, the Austrian pediatrician who first noticed the same signs in two girls sitting in his waiting room in Vienna in the 1950s. The two girls were both making the same repetitive hand movement.
Rett syndrome symptoms
One of the main symptom of Rett syndrome is indeed a repetitive, compulsive, purposeless hand movement such as hand wringing, hand clasping, hand clapping.
What causes Rett syndrome?
Rett syndrome is a genetic disorder and it is caused by a genetic mutation usually in the MECP2 gene located on the long arm of the X chromosome.
Rett syndrome is very rare and the genetic mutations that cause this disease are random, so no particular risk factors have been identified. Only in a few cases it is inherited.
Rett syndrome diagnostic criteria
Rett syndrome can be diagnosed by a physical examination, blood test or genetic testing.
A clinical history of the child and physical examination are fundamental. First of all the child must have had a normal development until 6 to 18 months followed by a loss of skills. Also the period of regression is followed by a recovery or stabilization.
Among typical symptom and signs there are:
- abnormal hand movements (hand wringing or squeezing, hand clapping or tapping, or hand mouthing)
- loss of hand use
- loss of spoken language
- problems in walking (Gait abnormalities, dyspraxic gait)
Rett’s syndrome is often misdiagnosed as Cerebral Palsy, autism or other developmental delays, so there are some exclusion criteria that allow doctors to rule out a diagnosis
Rett syndrome treatment
Although there is no targeted treatment for Rett syndrome, there are many interventions that can be adapted to the needs of each young patients. With the correct therapy and support children with Rett syndrome can go to school and participate in social activities.
The aim of these treatments is to easy symptoms, slowing the loss of abilities, improving or preserving movement and encouraging social contacts.
About Professor Portinaro
Prof. Portinaro has a wide experience and particular aptitude for neurological conditions.
He is indeed the founder and scientific director of a non-profit organization that supports families with children affected by neuromotor disabilities: Fondazione Ariel.
Prof. Portinaro and his team spend a large part of their work in international research projects to discover new treatments for childhood neuromotor disorders.
Prof. Portinaro is one of the few to have performed more than 150 surgeries to improve the motor skills of these girls.
He is also member of their scientific committee.