What is Rett Syndrome
What is Rett Syndrome ?
This neurodevelopmental disorder primarily affects girls.
It is estimated to affect one in every 10,000 to 15,000 girls.
Symptoms are characterized by an age-dependent onset, as follows:
Early infancy (initial symptoms): Postural hypotonia, autistic tendencies
Late infancy: Locomotion impairment, retarded head circumference development
Early childhood: Loss of purposeful hand motor function, emergence of stereotypic movements, hypertonia, dystonia, scoliosis, paradoxical breathing, epilepsy, and mental retardation.
Late childhood: Often stabilizes, although scoliosis may occasionally progress
Diagnosis is based on the following clinical features:
Onset occurs in early infancy with mild symptoms.
Motor development is often delayed, beginning with rolling over. Difficulty with crawling is also common.
Specific symptoms appear in an age-dependent manner, as described above.
At around the age of one to one and a half years, children may become unable to do things they were previously able to do (regression).
The cause of the disease is a genetic abnormality (methyl-CpG-binding protein 2; MECP2), although this genetic abnormality may not be found.
Treatment
Antiques are considered for each symptom.
In other words, antiepileptic drugs are required to control epilepsy.Currently, there are no revolutionary medications or treatments for other symptoms (stereotypic ovements, dystonia, scoliosis, sleep disorders, etc.), but these are being investigated.
In daily life, encouraging alternating limb movements (locomotion) and establishing a regular sleep-wake rhythm may be effective.
Rehabilitation (physical therapy, occupational therapy, speech therapy, etc.) and interactions that encourage communication may also be helpful.
Such interactions are thought to promote brain development.
Attention to pediatric and internal medical illnesses is also necessary.
Treatments tailored to the specific pathology of Rett syndrome, as well as cures, are being researched.
These are the words left behind by Dr. Rett: “Care Today, Cure Tomorrow.” (Definitive treatment is expected in the future, but now we need better care and support.)
You can sense the emotions of those with Rett syndrome in their gaze and behavior. This communication is both precious and appreciated.
September 20, 2025
Author: Yoshiko Nomura
Yoshiko Nomura Pediatric Neurology Clinic
Translated by Google! Thank you
About the Japan Rett Syndrome Association
Parents who learned the name of the disease “Rett syndrome” for the first time when their cute daughter became sick with this disease, partly because of the lack of information, I was too anxious to be alone to fight a disease with no known cause or cure.
In November 1990, an enthusiastic symposium was held in Tokyo, inviting experts from Japan and abroad, including Dr. Rett, as well as medical and educational experts and 60 families.
In April of the following year, the Japan Rett Syndrome Association (JRSA), a national organization centered around the families who participated in the symposium, was established.
It started with the following ideas.
Four philosophies
| 1. Families of children with Rett’s syndrome talk about their troubles and deepen friendships. |
| 2. Receive information from specialized institutions involved in the medical and nursing care of children with Rett’s syndrome, and exchange information among members who also accept the participation of specialists. |
| 3. Raise awareness of Rett syndrome in society at large. |
| 4. Together we will think about the happiness of children with Rett syndrome. |
For new members
| Name | Japan Rett Syndrome Association |
| Executive Office | info@rett-syndrome.jp |
| Operation | Currently, the action policy is decided under the board of directors, which consists of 6 families and 12 people. The Executive Office plays a central role in the operation. |
| Membership | Guardians of Rett syndrome patients are regular members. |
| Membership Fee | Regular Member:No fee from 2020 to 2025 |
| Accounting Period | Starting in April and ending in March of the following year |
| Report | We will publish it on this website. |
