Results 61 to 70 of about 18,028 (242)

Non-epileptic paroxysmal events in Rett syndrome: A systematic review of case-based and observational evidence. [PDF]

Dev Med Child Neurol
This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Bhatti N, Lumsden DE.
europepmc   +2 more sources

Early gut microbial and metabolic dysregulation with subclinical cardiac alterations in a nonhuman primate model of Rett syndrome

iMeta, EarlyView.
Longitudinal multi‐omics profiling of a nonhuman primate Rett syndrome (RTT) model reveals early systemic alterations. RTT monkeys exhibited postnatal growth retardation, intestinal structural abnormalities, and low‐grade systemic inflammation. Gut microbiome analysis showed delayed microbial maturation and age‐discordant dysbiosis, including altered ...
Ting Zhang, Xiaopeng Wang, Peng Li, Junyu Zhang, Wenjie Sun, Zhen Zhang, Yan Zhuo, Wenting Guo, Yongchang Chen   +8 more
wiley   +1 more source

Differential diagnosis of Rett and Angelman syndromes: final diagnosis of a case using genetic analysis

Psychiatry and Clinical Psychopharmacology, 2021
The purpose of this article is to review the diagnostic procedures and genetic analysis in making differential diagnosis of a case having similar symptoms of Rett and Angelman syndromes.
Tümer Türkbay, Davut Gül, Teoman Söhmen   +2 more
doaj  

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Management of epilepsy in patients with Rett syndrome: perspectives and considerations

, 2015
Natalija Krajnc Department of Child, Adolescent and Developmental Neurology, University Children’s Hospital, Ljubljana, Slovenia Abstract: Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of ...
Natalija Krajnc, Natalija Krajnc, Krajnc N   +2 more
core   +1 more source

OxInflammation in Rett syndrome

The International Journal of Biochemistry & Cell Biology, 2016
Rett syndrome (RTT) is an orphan progressive neurodevelopmental disease affecting almost exclusively females (frequency 1:10,000). RTT clinical expression is typically characterized by loss of purposeful hand movements, severe mental retardation and motor impairment, breathing disorders, ataxia and increased risk of sudden death.
PECORELLI, Alessandra, CERVELLATI, Carlo, Hayek, Joussef, VALACCHI, Giuseppe   +3 more
openaire   +3 more sources

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Rett Syndrome [PDF]

, 2009
Rett syndrome is a thief! It robs little girls of their projected life. It lulls their families into a false sense of security while their little girls develop normally for 6 to 18 months.
Cox, Deborah Ann
core  

Rett Syndrome without MECP2 Mutation in a Pakistani Girl

Life and Science, 2020
Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl
Rubina Dad, Humaira Aziz Sawal, Arsalan Ahmad, Muhammad Ikram Ullah, Muhammad Jawad Hassan   +4 more
doaj   +1 more source