- 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.
The study aimed to identify specific EEG characteristics in individuals with Rett syndrome (RTT) to determine their potential as objective indicators of brain function.
EEG data were collected from 60 females with RTT and 26 neurotypical females, focusing on differences in brain activity and the correlation with clinical severity.
Findings showed that RTT participants exhibited greater amplitude variability and low-frequency brain activity, with consistent patterns in EEG power measures that correlated with clinical severity, supporting the use of EEG as an objective assessment tool for RTT.
- 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.
The study investigates the use of evoked potentials as potential biomarkers for clinical severity in rare neurodevelopmental disorders, specifically MECP2 duplication syndrome and FOXG1 syndrome, alongside previously studied conditions like Rett syndrome and CDKL5 deficiency disorder.*
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Researchers collected visual and auditory evoked potentials from participants across multiple sites, comparing them to age-matched individuals with other conditions to identify group-level differences and associations with clinical severity.*
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Findings indicated that visual evoked potentials (VEPs) were reduced in individuals with Rett syndrome, CDKL5 deficiency disorder, and MECP2 duplication syndrome, while auditory evoked potentials (AEPs) showed prolonged latency in MECP2 duplication and FOXG1 synd
CDKL5 deficiency disorder is a serious condition with no specific treatments, and the study aims to find reliable biomarkers to evaluate new therapies.
Researchers measured brain activity through visual and auditory evoked potentials and EEG in 26 individuals with the disorder and compared their results to typically developing peers.
The study found that people with CDKL5 deficiency had lower visual evoked potential amplitudes, and specific EEG features correlated with disease severity, especially the theta/delta ratio, which was the strongest predictor of clinical severity.