Autonomic dysfunction and sudden death in patients with Rett syndrome: a systematic review

J Singh, E Lanzarini, P Santosh - Journal of Psychiatry and Neuroscience, 2020 - jpn.ca
Background: Rett syndrome (RTT), a debilitating neuropsychiatric disorder that begins in
early childhood, is characterized by impairments in the autonomic nervous system that can …

[HTML][HTML] Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis

R Cordani, E Tobaldini, GD Rodrigues… - Frontiers in …, 2023 - frontiersin.org
Rett syndrome (RTT) is a rare and severe neurological disorder mainly affecting females,
usually linked to methyl-CpG-binding protein 2 (MECP2) gene mutations. Manifestations of …

[HTML][HTML] Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD)-a target for clinical trials

J Singh, P Santosh - Orphanet journal of rare diseases, 2018 - Springer
Complex neurodevelopmental disorders need multi-disciplinary treatment approaches for
optimal care. The clinical effectiveness of treatments is limited in patients with rare genetic …

[HTML][HTML] Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

J Mackay, J Downs, K Wong, J Heyworth… - Journal of …, 2017 - Springer
Background Rett syndrome is a severe neurodevelopmental disorder associated with
mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are …

Cardiovascular autonomic dysfunction in children and adolescents with Rett syndrome

A Kumar, A Jaryal, S Gulati, B Chakrabarty, A Singh… - Pediatric …, 2017 - Elsevier
Background Autonomic dysfunction is common in children with Rett syndrome. They usually
manifest with agitation, persistent screaming, constipation, gastroesophageal reflux …

Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome

POO Julu, IW Engerström - Brain and Development, 2005 - Elsevier
We have investigated whether brainstem assessment using the NeuroScope could be used
for objective and quantitative monitoring of early development and later progress in Rett …

Neurophysiology of Rett syndrome

DG Glaze - Journal of child neurology, 2005 - journals.sagepub.com
Rett syndrome is a neurodevelopmental disorder that in most cases is consequent to a
mutation in the MECP2 gene. The central nervous system is the primary organ system …

Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant

F Guideri, M Acampa, T DiPerri… - Journal of Child …, 2001 - journals.sagepub.com
Incidence of sudden death in Rett syndrome is greater than that of the general population,
and cardiac electrical instability is a prime suspect cause. The objective of the present study …

[HTML][HTML] Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome: therapeutic perspectives for 5-HT1A agonists

AP Abdala, JM Bissonnette… - Frontiers in …, 2014 - frontiersin.org
Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding
protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a …

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study

N Halbach, EE Smeets, P Julu… - American Journal of …, 2016 - Wiley Online Library
Many studies have attempted to establish the genotype–phenotype correlation in Rett
syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate …