Published articles related to dup15q syndrome

September 5, 2018
What's missing in autism spectrum disorder motor assessments?

Authors: Rujuta B. Wilson, James T. McCracken, Nicole J. Rinehart and Shafali S. Jeste

 

Background

Motor delays and impairments in autism spectrum disorders (ASD) are extremely common and often herald the emergence of pervasive atypical development. Clinical accounts of ASD and standardized measures of motor function have identified deficits in multiple motor domains. However, literature describing frequently used standardized motor assessments in children with ASD, their test properties, and their limitations are sparse.

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September 5, 2018
Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders

 

Authors: Shafali S Jeste and Charles A Nelson III

Intro: As a child neurologist (SSJ) and developmental cognitive neuroscientist (CAN), we care for and study individuals across a wide developmental, age, and ability spectrum. Over the years, as we have engaged with and learned from families of individuals with a variety of neurodevelopmental disorders, including intellectual and developmental disabilities (IDDs), we have been struck by the impact of the rapid advances that have been made in the field over the last several decades. Parents of adults with IDD often report that years ago, when they were first concerned about their child’s development (i.e., due to motor delays, early seizures, or failure to gain language) few, if any educational, medical, or therapeutic resources were available for their children. Many were told by their health care provider not to worry because their child would “eventually catch up,” while others were instructed to just “watch and wait, because [boys] develop more slowly.” Those who eventually received a genetic diagnosis, usually in late childhood, received little to no concrete information about the functional significance (including treatment options) of the genetic variant or mutation, thus perpetuating continued uncertainty and fear about their child’s future. In contrast, parents with recently diagnosed infants and children often share stories of hope and empowerment, with early detection of developmental delays facilitating prompt intervention and genetic testing which, in turn, leads to improved clinical monitoring and prognostication, engagement with patient advocacy groups, and new opportunities for entry into patient registries, natural history studies, and clinical trials.

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September 5, 2018
Cerebrospinal fluid and the early brain development of autism

 

Authors: Mark D ShenEmail authorView ORCID ID profile

Background

There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins involved in neurodegenerative diseases, such as amyloid-β. In addition, the role of CSF in the newly discovered lymphatic system of the brain has become a prominently researched area in clinical neuroscience, as CSF serves as a conduit between the central nervous system and immune system.

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September 5, 2018
Sudden unexpected death in epilepsy: The neuro-cardio-respiratory connection

Authors: Theodora A.Manolis, Antonis A.Manolis, HelenMelita, and Antonis S.Manolis

Sudden unexpected death in epilepsy (SUDEP) is the major cause of epilepsy-related premature mortality which targets preferentially younger people. Its etiology remains unknown. Several risk factors have been identified with generalized tonic-clonic seizures as the most important one; seizure control remains the most effective measure of prevention. Although some cases may be attributable to cardiac causes, mainly undiagnosed cardiac channelopathies, the majority appear linked to epilepsy-related disruption of the functional connectivity of certain brain structures associated with the central autonomic control of cardio-respiratory function (neuro-cardio-respiratory connection). Obtaining further data on its pathophysiologic mechanisms is a cardinal step towards preventing and reducing the incidence of SUDEP. Neuroimaging and molecular genetic studies may provide insights into the causes of SUDEP and identify potential biomarkers for risk stratification of patients susceptible to SUDEP. These issues are herein reviewed with emphasis placed on the neuro-cardio-respiratory functions affected by epilepsy and their genetic control and influences.

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August 14, 2018
The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2‐q13)

Authors of original paper:

Jarek Wegiel , W. Ted Brown, Giuseppe La Fauci, Tatyana Adayev, Richard Kascsak, Regina Kascsak, Michael Flory, Wojciech Kaczmarski, Izabela Kuchna, Krzysztof Nowicki, Veronica Martinez-Cerdeno , Thomas Wisniewski, and Jerzy Wegiel

Summary: Autism is diagnosed in about 80% of people with Dup15q (maternal duplication of the 15q11-q13 region), making it a key gene in the understanding of this disorder.  For most people with autism, a mix of different genes and environmental factors led to a diagnosis. However, in people with Dup15q, a key region on chromosome 15 is largely responsible.  Researchers are using this to both better understand autism, and develop targeted therapies which may help those even without a mutation in chromosome 15.

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April 16, 2018
Uncovering True Cellular Phenotypes: Using Induced Pluripotent Stem Cell-Derived Neurons to Study Early Insults in Neurodevelopmental Disorders

Animal models of neurodevelopmental disorders have provided invaluable insights into the molecular-, cellular-, and circuit-level defects associated with a plethora of genetic disruptions. In many cases, these deficits have been linked to changes in disease-relevant behaviors, but very few of these findings have been translated to treatments for human disease.

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March 27, 2018
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP)

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality in young adults. The exact mechanisms are unknown but death often follows a generalized tonic–clonic seizure. Proposed mechanisms include seizure-related respiratory, cardiac, autonomic, and arousal dysfunction. Genetic drivers underlying SUDEP risk are largely unknown.

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January 27, 2018
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons

By: Nora Urraca, Kevin Hope, A. Kaitlyn Victor, T. Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges and Lawrence T. Reiter

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January 18, 2018
Methods and compositions for unsilencing imprinted genes

The present invention provides methods and compositions for inducing expression of Ube3a in a cell by contacting the cell with a topoisomerase inhibitor. Particular embodiments include a method of treating a genomic imprinting disorder, such as Angelman syndrome, in a subject by administering to the subject an effective amount of a topoisomerase inhibitor.

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January 10, 2018
The Autism Protein Ube3A/E6AP Remodels Neuronal Dendritic Arborization via Caspase-Dependent Microtubule Destabilization
Natasha KhatriJames P. GilbertYuda HuoRoozhin SharaflariMichael NeeHui Qiao and Heng-Ye Man
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