Results 51 to 60 of about 45,899 (203)

Surface electromyography applied to fragile X syndrome

, 2022
openÈ stata effettuata l'analisi dell'attività muscolare, attraverso l'elettromiografia di superficie, di 6 bambini affetti da sindrome X-fragile per valutare quantitativamente le alterazioni muscoloscheletriche in questi soggetti in condizioni ...
SIMONATO, GIULIA
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THE FRAGILE X SYNDROME

International Journal of Clinical Practice, 1994
SUMMARYThe contributions of fragile X syndrome to mental retardation have been underestimated. It is the most common form of familial mental retardation and one of the most common genetic diseases. Its long‐term burden upon families and services is considerable.
openaire   +2 more sources

Fragile chromosome x syndrome: Sequelae in feet and a case report

, 2018
Fragile chromosome X syndrome is the prime cause of hereditary mental retardation and the second most frequent chromosomopathy after Down’s syndrome [1,2]. It is estimated to affect one in 4000 males and that there is one female carrier per 800 and
Reina Bueno, María, Domínguez-Maldonado, Gabriel, Munuera Martínez, Pedro Vicente, Lafuente Sotillos, Guillermo   +3 more
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Epilepsy in fragile X syndrome [PDF]

Developmental Medicine & Child Neurology, 2002
Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of childhood (BFEC, benign rolandic epilepsy). To evaluate seizure frequency and type in a Chicago FXS cohort, data regarding potential seizure history were reviewed for 136 ...
openaire   +2 more sources

Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj  

Expressive language abilities of boys with idiopathic autism spectrum disorder and boys with fragile X syndrome + autism spectrum disorder: Cross-context comparisons

Autism and Developmental Language Impairments, 2020
Background and aims Understanding the unique expressive language profiles of children with phenotypically similar, but distinct neurodevelopmental disorders, such as idiopathic autism spectrum disorder and fragile X syndrome with a co-diagnosis of autism
Elizabeth Hilvert, Audra Sterling, Eileen Haebig, Laura Friedman   +3 more
doaj   +1 more source

Pertinence d'une intervention phonique sur le développement des prérequis à la lecture d'adultes porteurs du syndrome du X-Fragile [PDF]

, 2023
Le syndrome du X-fragile (SXF) se caractérise par un trouble du développement intellectuel (TDI) impactant notamment les apprentissages scolaires. Beaucoup de personnes arrivent à l'âge adulte en n'ayant pas acquis les savoir-faire de base de la lecture ...
Comblain, Annick, Vanuxem, Justine
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Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome

SAGE Open Medicine
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone   +22 more
doaj   +1 more source

Epigenetic insights into Fragile X Syndrome

Frontiers in Cell and Developmental Biology
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie, Liangqun Xie, Huiying Li, MengLiang Xiao, Ningjing Chen, Xiaoxiao Zang, Yingying Liu, Hong Ye, Chaogang Tang   +8 more
doaj   +1 more source

Fragile X syndrome: cognitive and adaptive functioning in the pediatric sample of Padua [PDF]

, 2023
openIl presente elaborato di tesi approfondisce la Sindrome X Fragile, un disordine del neurosviluppo di origine genetica che causa disabilità intellettiva e diagnosi di autismo.
PAVAN, BEATRICE
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