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IDDRC 2024

IDDRC special issue 2024

Series Editors: April Levin, MD, Boston Children's Hospital/Harvard Medical School, USA and Ted Abel, PhD, Iowa Neuroscience Institute, USA

Promise fulfilled? Translating progress in the study of genetic conditions to separate forms of IDD

Important advances in our understanding of intellectual and developmental disabilities (IDDs) caused by rare, single gene (e.g., Fragile X Syndrome, Rett Syndrome) or copy number variants (e.g., 16p11.2 microdeletion syndrome), have the exciting potential to shed light on basic mechanisms and new therapeutic strategies both for affected individuals and individuals with “non-syndromic” IDDs who show overlapping phenotypic and perhaps pathogenetic profiles. Enthusiasm around this potential has motivated research investment in syndromic IDDs that, in turn, has helped guide new research strategies around non-syndromic IDDs. The power of this approach remains unclear, however, as it has led to new knowledge of IDDs across genetic/molecular, brain, and behavioral levels, while also showing significant limitations, including demonstrations that single-gene NDDs may be more phenotypically distinct from non-syndromic NDDs than once believed. This special issue will integrate new reviews, research articles, and case reports aimed at understanding syndromic and non-syndromic IDDs and examining the extent to which knowledge may be translated across different IDD populations. 

Journal of Neurodevelopmental Disorders is pleased to present this seventh IDDRC special thematic series. This collection of articles is sponsored by the Intellectual and Developmental Disabilities Research Centers (IDDRCs) and articles have undergone the journal’s standard peer-review process. The Series Editors declare no competing interests.

  1. Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic varian...

    Authors: Dustin Baldridge, Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta, Inez Oh, Virginia Lanzotti, Daleep Grewal, Erin Rooney Riggs, Juliann M. Savatt, Rachel Hauck, Abigail Sveden, John N. Constantino, Joseph Piven, Christina A. Gurnett…
    Citation: Journal of Neurodevelopmental Disorders 2024 16:17
  2. Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models o...

    Authors: Katherine B. McCullough, Amanda Titus, Kate Reardon, Sara Conyers, Joseph D. Dougherty, Xia Ge, Joel R. Garbow, Patricia Dickson, Carla M. Yuede and Susan E. Maloney
    Citation: Journal of Neurodevelopmental Disorders 2024 16:16
  3. Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and beh...

    Authors: Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C. Kurtz-Nelson, Rachel Earl, Raphael A. Bernier and Evan E. Eichler
    Citation: Journal of Neurodevelopmental Disorders 2024 16:15
  4. We describe a multidisciplinary teamwork approach known as “Operation IDD Gene Team” developed by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) at the Albert Einst...

    Authors: Steven U. Walkley, Sophie Molholm, Bryen Jordan, Robert W. Marion and Melissa Wasserstein
    Citation: Journal of Neurodevelopmental Disorders 2024 16:10
  5. Cyclic adenosine 3’, 5’ monophosphate (cAMP)-dependent Protein Kinase A (PKA) is a multi-functional serine/threonine kinase that regulates a wide variety of physiological processes including gene transcription...

    Authors: Alexander G. P. Glebov-McCloud, Walter S. Saide, Marie E. Gaine and Stefan Strack
    Citation: Journal of Neurodevelopmental Disorders 2024 16:9
  6. X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. Thi...

    Authors: Dayne Martinez, Evan Jiang and Zhaolan Zhou
    Citation: Journal of Neurodevelopmental Disorders 2024 16:5
  7. Evidence in the general population suggests that predictors of cardiovascular health such as moderate to vigorous physical activity (MVPA), cardiorespiratory fitness, and systolic blood pressure are associated...

    Authors: Lauren Frank, Brian Helsel, Danica Dodd, Amy E. Bodde, Jessica C. Danon, Joseph R. Sherman, Daniel E. Forsha, Amanda Szabo-Reed, Richard A. Washburn, Joseph E. Donnelly and Lauren T. Ptomey
    Citation: Journal of Neurodevelopmental Disorders 2023 15:43