NGF and BDNF in pediatrics syndromes

G Ferraguti, S Terracina, G Micangeli… - Neuroscience & …, 2023‏ - Elsevier
Neurotrophins (NTs) as nerve growth factor (NGF) and brain-derived neurotrophic factor
(BDNF) play multiple roles in different settings including neuronal development, function and …

Abnormal mTOR activation in autism

KD Winden, D Ebrahimi-Fakhari… - Annual review of …, 2018‏ - annualreviews.org
The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates
environmental information regarding energy availability and stimulates anabolic molecular …

Brain-derived neurotrophic factor levels in autism: a systematic review and meta-analysis

A Saghazadeh, N Rezaei - Journal of autism and developmental disorders, 2017‏ - Springer
Brain-derived neurotrophic factor (BDNF) plays an important role in activity-dependent
synaptic plasticity. Altered blood BDNF levels have been frequently identified in people with …

Self-injurious behavior

S Huisman, P Mulder, J Kuijk, M Kerstholt… - Neuroscience & …, 2018‏ - Elsevier
Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual
disabilities (ID). Severe SIB can be devastating and potentially life-threatening. There is …

Unmet clinical needs and burden in Angelman syndrome: a review of the literature

AC Wheeler, P Sacco, R Cabo - Orphanet journal of rare diseases, 2017‏ - Springer
Background Angelman syndrome (AS) is a rare disorder with a relatively well-defined
phenotype. Despite this, very little is known regarding the unmet clinical needs and burden …

Measuring what matters to individuals with Angelman syndrome and their families: development of a patient-centered disease concept model

T Willgoss, D Cassater, S Connor, ML Krishnan… - Child Psychiatry & …, 2021‏ - Springer
Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental
disorder. Despite the considerable impact on individuals and caregivers, no disease …

Assessment of BDNF serum levels as a diagnostic marker in children with autism spectrum disorder

AG Barbosa, R Pratesi, GSC Paz, MAAL Dos Santos… - Scientific Reports, 2020‏ - nature.com
There has been a significant increase in autism spectrum disorder (ASD) in the last decades
that cannot be exclusively attributed to better diagnosis and an increase in the …

Developmental skills of individuals with Angelman syndrome assessed using the Bayley-III

A Sadhwani, A Wheeler, A Gwaltney, SU Peters… - Journal of autism and …, 2021‏ - Springer
We describe the development of 236 children with Angelman syndrome (AS) using the
Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed …

Long noncoding RNA and its contribution to autism spectrum disorders

J Tang, Y Yu, W Yang - CNS Neuroscience & Therapeutics, 2017‏ - Wiley Online Library
Recent studies have indicated that long noncoding RNAs (lncRNAs) play important roles in
multiple processes, such as epigenetic regulation, gene expression regulation …

Meta-analysis of BDNF levels in autism

R Armeanu, M Mokkonen, B Crespi - Cellular and molecular neurobiology, 2017‏ - Springer
Brain-derived neurotrophic factor (BDNF) centrally mediates growth, differentiation and
survival of neurons, and the synaptic plasticity that underlies learning and memory. Recent …