Girls With Rett Have Higher Rate of Menstrual Seizures, Study Says

Patricia Inacio PhD avatar

by Patricia Inacio PhD |

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menstrual seizures and RETT

Girls and women with Rett syndrome may have increased rate of menstrual seizures, also known as catamenial seizures, compared to healthy females, a study reports.

Age of onset, and duration and flow of menstruation in girls and women with Rett were similar to healthy girls. Bone health concerns was one of the most common reasons for discontinuing hormonal treatment among those with Rett.

The study “Features of menstruation and menstruation management in individuals with Rett syndrome” was published in the Journal of Pediatric and Adolescent Gynecology.

Rett syndrome, which is most commonly caused by mutations in the MECP2 gene, is a disorder that mostly affects girls. This means that particular attention should be placed on health management as girls move into puberty and adulthood.

However, few studies have investigated the effects of puberty and hormone changes in girls with Rett.


Here, researchers at the University of Cincinnati College of Medicine in Ohio led a study that described the characteristics of menstruation and related symptoms, as well as its management, in a group of girls and women with Rett. They were followed at the Rett Syndrome and Related Spectrum Disorders Clinic of the Cincinnati Children’s Hospital Medical Center.

They reviewed medical records — including consultations with gynecologists, neurologists, developmental and behavioral pediatricians, as well as dietitians — collected over five years. Gathered data focused on menstrual patterns and features, menstrual symptoms and behaviors, and forms of hormonal treatment.

To supplement the clinical data, the investigators conducted a survey, by phone or email, where they inquired about the features and concerns related to menstruation, as well as whether the patients used hormonal treatments, why they did so, and why they stopped.

In total, 77 girls and women (ages 12 to 55) were included. The mean age for the first menstruation (called menarche) in girls with Rett was comparable to that of healthy girls, and girls with other neurological disabilities, namely Down syndrome, autism spectrum disorder, and cerebral palsy. The average menstrual cycle lasted 21 to 34 days.

The average length of menstruation, according to clinical data from 55 Rett patients, was seven days or less in most cases. Only six patients (10.9%) had longer periods.

Menstrual data from 62 Rett patients revealed that the majority (88.7%) experienced moderate to heavy flow, with only 11.3% reporting light menstrual flow. Irregular cycles were seen in 25 patients. These included missed periods for three months or more (14 patients), continuous bleeding in seven patients and frequent spotting, in four patients.

Also, girls and women with Rett had menstruation-related complaints similar to those found in other neurodevelopmental disorders, including painful menstruation (a condition called dysmenorrhea, 61% of the patients) and mood changes (49.4%).

Catamenial seizures, also known as menstrual seizures since they are linked to a woman’s menstrual cycle and related hormone levels in the body, were seen in 17 Rett patients (22.1%). Other changes included  acne, self-injurious behavior, and alterations in bowel function, appetite, or weight gain.

Hormonal treatment for management of menstruation was prescribed to 50 participants (67.6%). The median age for hormonal treatment was 15 (range 9 to 36 years).

Lack of menstruation was the most common reason for hormonal treatment (60% of participants), followed by menstrual regulation (38%). Other reasons included dysmenorrhea (26%), regulation of emotional state (also in 26%) and of spells/frequency of seizures (18%).

The most common hormonal treatments were combined oral contraceptive pill and depot-medroxyprogesterone acetate, both in 30% of participants, and oral progestin (26%). All proved effective in suppressing or regulating menstruation and managing related complications.

While menstrual seizures were a cause of concern for the girls and women with Rett, very few patients had reductions in this condition following hormonal treatments.

Of the four women in which hormonal therapy lessened menstrual seizures, three also experienced menstrual suppression and one experienced menstrual regulation.

“Further studies and therapies are warranted to address this, as changes in seizure activity surrounding menstruation is a main issue noted by caregivers of these women,” the researchers wrote.

Lack of effectiveness or worsening of menstruation-related symptoms were the most common reasons for discontinuing hormonal treatment, followed by bone health concerns.

Overall, this study suggests that menstruation in girls and women with Rett is “comparable to those of typically developing females with the exception of increase in catamenial seizure activity,” the scientists wrote.

“An important observation of our study was bone health, catamenial epilepsy, and immobility are important factors in choice of hormonal treatment,” warranting further studies into the impact of hormonal therapies on bone health of people with Rett, the team concluded.