Results 81 to 90 of about 3,757,153 (283)

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

, 2017
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still
Pacheco, Paola, Blasco, L., Antiñolo Gil, Guillermo, Brandi, Núria, Vidal, Silvia, Trotta, Jean Rémi, Gerotina, Edgar, Blasco, Laura, Rett Working Group, Armstrong, Judith   +9 more
core   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Regression in Rett syndrome: Developmental pathways to its onset

Neuroscience and Biobehavioral Reviews, 2019
HighlightsEarly development of RTT is not asymptomatic.Signs are reported for early motor, speech‐language and socio‐communicative development.Hand stereotypies may occur during the first months of life.The concept of regression in RTT needs re ...
C. Einspieler, Peter B. Marschik
semanticscholar   +1 more source

A Case of Rett Syndrome

Paediatrica Indonesiana, 2018
A case of Rett syndrome in a-3 ½ year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand ...
S, Lazuardi, N, Advani, S, Ismael
openaire   +3 more sources

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Rett Syndrome. Case report [PDF]

, 2019
Introducción: el síndrome de Rett es un trastorno del desarrollo neuropsicológico  poco frecuente, ocurre casi exclusivamente en las niñas y provoca una discapacidad progresiva.
Rivero, Omar Hernández, Hernández Rivero, Odalys, Pérez Fernández, Addys   +2 more
core  

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Functional Recovery with Electro-Acupuncture Stimulation in an Mecp2-Knockout Rat Model of Rett Syndrome

Engineering, 2022
Rett syndrome is a progressive neurodevelopmental disorder that lacks effective treatments. Although deep-brain stimulation can alleviate some symptoms in Rett model mice, this interventional manipulation requires deliberate surgical operations. Here, we
Yanhong Sun, Zhifang Chen, Yi Xu, Yuefang Zhang, Zhilei Ge, Chenglie Lin, Yi Zhou, Fangfei Zhao, Meiling Yan, Xinyi Liu, Ying Zhu, Jimin Gao, Hongyi Li, Lihua Wang, Jun Hu, Zilong Qiu, Chunhai Fan   +16 more
doaj   +1 more source

Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials

Brain Sciences
Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of ...
Adele Gaspar Lopes, Sampath Kumar Loganathan, Jayalakshmi Caliaperumal   +2 more
doaj   +1 more source

The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

The Scientific World Journal, 2006
Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life.
Meir Lotan, Lilit Zysman
doaj   +1 more source