Výsledky vyhledávání - "Jessica Zweifach"

Akademický článek

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Autor: Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)

Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals

Externí odkaz: https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706

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Akademický článek

Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms

Autor: M. Pilar Trelles, Tess Levy, Bonnie Lerman, Paige Siper, Reymundo Lozano, Danielle Halpern, Hannah Walker, Jessica Zweifach, Yitzchak Frank, Jennifer Foss-Feig, Alexander Kolevzon, Joseph Buxbaum

Publikováno v: Molecular Autism, Vol 12, Iss 1, Pp 1-15 (2021)

Abstract Background FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and

Externí odkaz: https://doaj.org/article/cf9eccf0c29f41fca7d360995a8f12bb

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Akademický článek

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome

Autor: Alexander Kolevzon, Tess Levy, Sarah Barkley, Sandra Bedrosian-Sermone, Matthew Davis, Jennifer Foss-Feig, Danielle Halpern, Katherine Keller, Ana Kostic, Christina Layton, Rebecca Lee, Bonnie Lerman, Matthew Might, Sven Sandin, Paige M. Siper, Laura G. Sloofman, Hannah Walker, Jessica Zweifach, Joseph D. Buxbaum

Publikováno v: HGG Advances, Vol 3, Iss 4, Pp 100138- (2022)

Summary: Activity-dependent neuroprotective protein (ADNP) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder. Preclinical evidence suggests that low-dose ketamine may induce expression of ADNP a

Externí odkaz: https://doaj.org/article/412d4f45e9134c2e94281d86bbd7955b

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Akademický článek

Prospective and detailed behavioral phenotyping in DDX3X syndrome

Publikováno v: Molecular Autism, Vol 12, Iss 1, Pp 1-17 (2021)

Abstract Background DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and au

Externí odkaz: https://doaj.org/article/14213b6357d64ea5a54ac381b9ae7484

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Akademický článek

Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials.

Autor: Paige M Siper, Vance Zemon, James Gordon, Julia George-Jones, Stacey Lurie, Jessica Zweifach, Teresa Tavassoli, A Ting Wang, Jesslyn Jamison, Joseph D Buxbaum, Alexander Kolevzon

Publikováno v: PLoS ONE, Vol 11, Iss 10, p e0164422 (2016)

OBJECTIVE:There is a critical need to identify biomarkers and objective outcome measures that can be used to understand underlying neural mechanisms in autism spectrum disorder (ASD). Visual evoked potentials (VEPs) offer a noninvasive technique to e

Externí odkaz: https://doaj.org/article/5f13835e2c404860b051531a6193ddbe

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Prospective phenotyping of CHAMP1 disorder indicates that coding mutations do not act through haploinsufficiency

Autor: Tess Levy, Thariana Pichardo, Hailey Silver, Bonnie Lerman, Jessica Zweifach, Danielle Halpern, Paige M Siper, Alexander Kolevzon, Joseph D Buxbaum

CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and dysmorphic features. Del

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f30faf0ce027325db60562e714a74160
https://doi.org/10.1101/2023.04.17.23288527

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CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms

Autor: Tess Levy, Bonnie Lerman, Danielle Halpern, Yitzchak Frank, Christina Layton, Jessica Zweifach, Paige M Siper, Joseph D Buxbaum, Alexander Kolevzon

Publikováno v: Human Molecular Genetics. 31:2582-2594

CHAMP1-related neurodevelopmental disorder, or CHAMP1 disorder, is a recently described genetic syndrome associated with developmental delay, intellectual disability, behavioral symptoms, medical comorbidities, and dysmorphic features. To date, liter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::918d8b518567000d2da7c4a1811e5991
https://doi.org/10.1093/hmg/ddac018

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DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care

Autor: Tess Levy, Paige M. Siper, Bonnie Lerman, Danielle Halpern, Jessica Zweifach, Puneet Belani, Audrey Thurm, Tjitske Kleefstra, Elizabeth Berry-Kravis, Joseph D. Buxbaum, Dorothy E. Grice

Publikováno v: Pediatric Neurology, 138, pp. 87-94
Pediatric Neurology, 138, 87-94

Contains fulltext : 290934.pdf (Publisher’s version ) (Open Access) DDX3X syndrome is a surprisingly common newly discovered genetic neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, language delays, att

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea3d64696ae097baecc2a00453be1fc
https://doi.org/10.1016/j.pediatrneurol.2022.10.009

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Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms

Autor: Tess Levy, Reymundo Lozano, M. Pilar Trelles, Jessica Zweifach, Paige M. Siper, Hannah Walker, Bonnie Lerman, Alexander Kolevzon, Yitzchak Frank, Joseph D. Buxbaum, Jennifer H. Foss-Feig, Danielle Halpern

Publikováno v: Molecular Autism
Molecular Autism, Vol 12, Iss 1, Pp 1-15 (2021)

Background FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and adolescen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03067e87a67f74b85facde49def5fadd
https://doi.org/10.1186/s13229-021-00469-z

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Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD

Autor: Christina Layton, Julia George-Jones, Mikaela Rowe, Stacey Lurie, Jessica Zweifach, Tess Levy, Alexander Kolevzon, Paige M. Siper, Joseph D. Buxbaum, Teresa Tavassoli

Publikováno v: Genes, Vol 12, Iss 977, p 977 (2021)
Genes
Volume 12
Issue 7

Phelan–McDermid syndrome (PMS) is one of the most common genetic forms of autism spectrum disorder (ASD). While sensory reactivity symptoms are widely reported in idiopathic ASD (iASD), few studies have examined sensory symptoms in PMS. The current

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7fe8543fa7966b201fe86795549d12
https://www.mdpi.com/2073-4425/12/7/977

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