Publications by authors named "Shannon Standridge"

Article Synopsis
  • - 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.
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  • 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.
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  • - 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.
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  • 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.* -
  • 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.* -
  • 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
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Article Synopsis
  • 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.
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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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Article Synopsis
  • Rett syndrome (RTT) is a rare neurodevelopmental disorder linked to mutations in the MECP2 gene, which is affected by X-chromosome inactivation (XCI), influencing clinical severity in patients.
  • The study analyzed XCI patterns in blood samples from 320 individuals, including 287 with RTT, revealing that classic RTT patients often preferentially inactivate their paternal X chromosome, while those with similar disorders like CDKL5 Deficiency Disorder tend to inactivate their maternal X chromosome.
  • Findings indicate a weak correlation between XCI skewing and clinical severity in RTT patients with maternal allele inactivation, suggesting that the degree of XCI skewing may relate to the severity of the disorder and highlighting its role in understanding
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Objective: To characterize growth and anthropometric measurements in females with Rett syndrome and compare these measurements with functional outcomes.

Study Design: We obtained longitudinal growth and anthropometric measurements from 1154 females with classic and atypical Rett syndrome seen between 2006 and 2019 in the US Natural History Study. We calculated the Clinical Severity Score, Motor Behavior Assessment score, and arm and leg muscle areas and recorded the functional assessments of arm and hand use and ambulation.

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Background: We report the clinical, radiological, laboratory, and neuropathological findings in support of the first diagnosis of lethal, small-vessel cerebral vasculitis triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in a pediatric patient.

Patient Description: A previously healthy, eight-year-old Hispanic girl presented with subacute left-sided weakness two weeks after a mild febrile illness. SARS-CoV-2 nasopharyngeal swab was positive.

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Objective: The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease-modifying therapeutics are currently under development, there is a pressing need for biomarkers to objectively and precisely assess the effectiveness of these treatments.

Method: Yearly visual evoked potentials (VEPs) and auditory evoked potentials (AEPs) were acquired from individuals with RTT, aged 2 to 37 years, and control participants across 5 sites as part of the Rett Syndrome and Related Disorders Natural History Study.

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Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials.

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Study Objective: To describe features of menstruation, menstrual-related symptoms, and menstrual management in females with Rett syndrome (RTT) to help develop a clinical approach to these parameters in RTT.

Design: Retrospective cross-sectional chart review and prospective survey.

Setting: Cincinnati Children's Hospital Medical Center, Rett Syndrome and Related Spectrum Disorders Clinic.

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Background: MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Although phenotypic features in MDS have been described, there is a limited understanding of the range of severity of these features, and how they evolve with age.

Methods: The cross-sectional results of N = 69 participants (ages 6 months-33 years) enrolled in a natural history study of MDS are presented.

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Background: Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient's lifespan requiring attentive coordination of subspecialty care by primary care providers. A comprehensive, up-to-date synthesis of medical comorbidities in RTT would aid care coordination and anticipatory guidance efforts by healthcare providers. Our objective was to review and summarise published evidence regarding prevalence of RTT medical comorbidities across all relevant organ systems.

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Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns.

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Background: Lifespan has increased in individuals with Rett syndrome (RTT), but little is currently known about the provision of well-woman care to these individuals.

Objective: To collect data on well-woman examinations and human papillomavirus (HPV) vaccination rates in women with RTT to understand the current state of women's healthcare in individuals with RTT.

Methods: A retrospective cross-sectional chart review and prospective survey of 77 patients with Rett syndrome who were cared for at a single specialty clinic over five years was conducted to collect data on women's health examinations and HPV vaccination rates.

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Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical severity scale. Other genes typically duplicated within Xq28 (eg, GDI1, RAB39B, FLNA) are associated with distinct clinical features independent of MECP2.

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Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls. It had been suspected that mutations in Methyl-CpG-binding protein 2 (MECP2) led to embryonic lethality in males, however such males have been reported. To enhance understanding of the phenotypic spectrum present in these individuals, we identified 30 males with MECP2 mutations in the RTT Natural History Study databases.

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We discuss the case of a 5-year-old boy who presented with an isolated left-sided cranial nerve 7 palsy that was initially magnetic resonance imaging negative. Owing to continued symptoms, repeat magnetic resonance imaging was performed and showed a temporal bone encephalocele. A review of the differential diagnosis of cranial nerve 7 palsy, warning signs signaling the need for additional workup, and a discussion of temporal lobe encephaloceles is provided in this case report.

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Article Synopsis
  • - A female patient with developmental regression shows a de novo mutation in the CACNA1A gene, which is linked to other conditions but not traditionally associated with Rett syndrome.
  • - She meets several criteria for atypical Rett syndrome, specifically showing symptoms like stereotypic hand movements and gait disturbance, along with multiple supportive symptoms.
  • - The authors suggest that CACNA1A mutations may play a role in atypical Rett syndrome presentations, particularly in cases resembling the early seizure variant.
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Objective: To evaluate the outcome, including drug-resistant epilepsy (DRE) in children with newly diagnosed partial onset epilepsy treated with carbamazepine (CBZ).

Methods: A retrospective medical records review and telephone questionnaire were undertaken on a total of 100 subjects.

Results: Long-term follow-up was obtained on 79 children with a mean duration of 7.

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Background: Rett syndrome is a common genetic cause of intellectual disability in girls caused by a mutation in the MECP2 gene. Diagnosis is based on clinical criteria. The aim was to compare the frequencies of the clinical criteria in patients with and without MECP2 mutations.

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We describe the development and evaluation of a system that uses machine learning and natural language processing techniques to identify potential candidates for surgical intervention for drug-resistant pediatric epilepsy. The data are comprised of free-text clinical notes extracted from the electronic health record (EHR). Both known clinical outcomes from the EHR and manual chart annotations provide gold standards for the patient's status.

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Purpose: Approximately 20% of children with epilepsy are drug-resistant, incurring considerable costs. Epilepsy surgery has been shown to be an effective intervention in this population. This study provides an initial look at the costs associated with surgical management of children with drug-resistant epilepsy as compared with medical management alone.

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Microarray testing has revolutionized clinical cytogenetics, as it provides a significantly higher resolution and greater clinical yield than karyotype analysis. This study assessed the clinical utility of single-nucleotide polymorphism microarray in patients with epilepsy. Study subjects were patients between the ages of birth to 23 years who were diagnosed with epilepsy and had a microarray performed at Cincinnati Children's Hospital Medical Center.

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