Publications by authors named "A Beisang"
Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in associated with milder severity, and that clinical features would not be static in older individuals. To address these hypotheses, we compared the distribution of variants and clinical severity between younger individuals with Classic RTT (under 30 years old) and older individuals (over 30 years old).
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- - Over 90% of individuals with Rett syndrome (RTT) experience gastrointestinal (GI) comorbidities, but many healthcare providers do not consider managing these issues a top priority in treatment.
- - Trofinetide, the first drug approved for RTT, has shown improvements in symptoms but can lead to GI side effects like diarrhea and vomiting, highlighting the need for better management strategies.
- - The authors advocate for a proactive approach to treating GI issues in RTT patients, using both clinical experience and literature recommendations to improve drug tolerance and enhance quality of life.
Distribution of hand function by age in individuals with Rett syndrome.
Ann Child Neurol Soc
September 2023
Article Synopsis
- - The study aimed to track changes in hand function skills over time in girls and young women with classic Rett Syndrome (RTT) and examine how these changes relate to genetic variants.
- - Researchers analyzed data from 946 participants between ages 2 and 18, revealing that hand function generally declines over time, with sharper declines noted in individuals with milder genetic variants.
- - The findings suggest that understanding these variations in hand use is crucial for designing effective clinical trials for RTT treatments, highlighting the need to consider specific genetic factors affecting hand function when planning interventions.
Background: As clinical trials for Rett syndrome are underway, there is a need to validate potential supplemental outcome measures that reflect important signs and symptoms. Autonomic dysfunction, particularly vasomotor dysfunction, is one potential area for which biomarkers could be developed.
Methods: In the current study, infrared thermal images of hands and feet from 26 females with Rett syndrome (aged 62 months to 39 years), and 17 females without known intellectual, genetic or neurological disorders (aged 55 months to 39 years) were collected.
Background: Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in this population which typically has cognitive impairment and limited expressive language. This study aims to describe the frequency of anxiety-like behavior and anxiolytic treatments along with associated clinical features in individuals with RTT.
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