Results 151 to 160 of about 2,296,312 (307)

Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2

JPGN Reports, Volume 7, Issue 1, Page 44-46, February 2026.
Abstract A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam.
Angela Tran, Namrata Patel‐Sanchez
wiley   +1 more source

Equinoterapia en niñas con síndrome de Rett [PDF]

, 2013
Curs 2012-2013El presente estudio tiene como objetivo principal la valoración de los beneficios que la equinoterapia tiene en niñas afectadas con síndrome de Rett, y se llevará a cabo en un centro hípico que reúna las condiciones e instalaciones ...
Ibáñez Ibáñez, Diana
core  

Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders

, 2018
The term neurodevelopmental disorder (NDD) is an umbrella term used to group together a heterogeneous class of disorders characterized by disruption in cognition, emotion, and behavior, early in the developmental timescale.
Hines, Rochelle M., Joya, Christina, Rodriguez, Rachel Ali   +2 more
core   +2 more sources

Advanced Paternal Age Impacts Common Loci in the Sperm and Placenta DNA Methylomes

Andrology, Volume 14, Issue 2, Page 528-544, February 2026.
ABSTRACT Background Epidemiological studies have reported an association between advanced paternal age at conception and an increased risk of neurodevelopmental disorders in offspring, such as autism spectrum disorder. Evidence suggests that DNA methylation alterations in spermatozoa of older men may be transmitted to the feto‐placental unit and ...
Julia Barnwell, Sophia Rahimi, Sherri Lee Jones, Donovan Chan, Josée Martel, Sara Abdessamie, Catherine M. Herba, Jean R. Séguin, William D. Fraser, Celia M. T. Greenwood, Tuong‐Vi Nguyen, Tina C. Montreuil, Jacquetta Trasler   +12 more
wiley   +1 more source

Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome

Nature Medicine, 2017
Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. However, the cellular heterogeneity of the brain impedes an understanding
Brian S Johnson, Ying-Tao Zhao, Maria Fasolino, Janine M. Lamonica, Y. Kim, G. Georgakilas, Kathleen H. Wood, Daniel Bu, Yue Cui, Darren Goffin, G. Vahedi, Tae Hoon Kim, Zhaolan Zhou   +12 more
semanticscholar   +1 more source

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

PLoS ONE, 2013
Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation ...
Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renieri   +17 more
doaj   +1 more source

Protective Factors on the Impact of Parental Stress on Distress in Parents of Autistic Children

Asian Social Work and Policy Review, Volume 20, Issue 1, February 2026.
ABSTRACT Given the higher demands on parenting and the limited resources available, parents of autistic children experience high levels of parental stress. Chinese parents of autistic children experience elevated levels of parental stress. Prolonged and severe stress may lead to distress, which adversely affects their mental well‐being.
Ho‐Wai Lam, Xueke Song, Sze‐Man Chan, Ka‐Ho Lau, Wing‐Chee So   +4 more
wiley   +1 more source

MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice

Nature Communications, 2017
Rett syndrome is associated with impaired synaptic connectivity beginning in early development. Here the authors show in female mice heterozygous forMecp2, a model of Rett syndrome, that during adulthood, auditory cortex plasticity associated with a ...
Keerthi Krishnan, Billy Y. B. Lau, Gabrielle Ewall, Z. Josh Huang, Stephen D. Shea   +4 more
doaj   +1 more source

Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]

, 2013
Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core   +1 more source

Modeling cerebral palsy in animals

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 158-174, February 2026.
Abstract Advancements in the treatment of cerebral palsy depend on animal research. Yet, most animal models have not been fully evaluated for spasticity and dystonia using clinically relevant measures of altered tone or movement patterns, which form the basis for diagnosing people with the condition.
Katharina A. Quinlan, Emily J. Reedich, Elvia Mena Avila, Brendan C. Moline, Landon T. Genry, Megan R. Detloff, Benjamin R. Katholi, Deborah Gaebler‐Spira, Bhooma R. Aravamuthan   +8 more
wiley   +1 more source