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Journal of Neurodevelopmental Disorders

Subject Areas: Neurology (clinical)
Publisher: BioMed Central - Springer Journals
ISSN: 1866-1947
SJR: 50

Open Access

Journal Article

The Brain Gene Registry: a data snapshot

Baldridge, Dustin; Kaster, Levi; Sancimino, Catherine; Srivastava, Siddharth; Molholm, Sophie; Gupta, Aditi; Oh, Inez; Lanzotti, Virginia; Grewal, Daleep; Riggs, Erin Rooney; Savatt, Juliann M.; Hauck, Rachel; Sveden, Abigail; ,; Constantino, John N.; Piven, Joseph; Gurnett, Christina A.; Chopra, Maya; Hazlett, Heather; Payne, Philip R. O.

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09530-3

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 variant and a particular neurodevelopmental disorder is often lacking. Recognizing this...
Open Access

Journal Article

Outcome measures in Angelman syndrome

Hagenaar, Doesjka A.; Bindels-de Heus, Karen G. C. B.; van Gils, Maud M.; van den Berg, Louise; ten Hoopen, Leontine W.; Affourtit, Philine; Pel, Johan J. M.; Joosten, Koen F. M.; Hillegers, Manon H. J.; Moll, Henriëtte A.; de Wit, Marie-Claire Y.; Dieleman, Gwen C.; Mous, Sabine E.

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09516-1 pmid:38429713

BackgroundAngelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it...
Open Access

Journal Article

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Neuhaus, Emily; Rea, Hannah; Jones, Elizabeth; Benavidez, Hannah; Miles, Conor; Whiting, Alana; Johansson, Margaret; Eayrs, Curtis; Kurtz-Nelson, Evangeline C.; Earl, Rachel; Bernier, Raphael A.; Eichler, Evan E.

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09532-1 pmid:38622540

BackgroundNeurodevelopmental 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 behavioral impacts. We currently know little about the psychiatric phenotypes of...
Open Access

Journal Article

Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities

Girault, Jessica B.; Veatch, Olivia J.; Won, Hyejung

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09526-z pmid:38481128
Open Access

Journal Article

Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)

Brima, Tufikameni; Freedman, Edward G.; Prinsloo, Kevin D.; Augustine, Erika F.; Adams, Heather R.; Wang, Kuan Hong; Mink, Jonathan W.; Shaw, Luke H.; Mantel, Emma P.; Foxe, John J.

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-023-09515-8 pmid:38183037

BackgroundWe interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of “duration” processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we...
Open Access

Journal Article

Protein Kinase A in neurological disorders

Glebov-McCloud, Alexander G. P.; Saide, Walter S.; Gaine, Marie E.; Strack, Stefan

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09525-0 pmid:38481146

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, metabolism, and synaptic plasticity. Genomic sequencing studies have identified both...
Open Access

Journal Article

Using team-based precision medicine to advance understanding of rare genetic brain disorders

Walkley, Steven U.; Molholm, Sophie; Jordan, Bryen; Marion, Robert W.; Wasserstein, Melissa

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09518-z pmid:38491427

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 Einstein College of Medicine. This initiative brings families affected by rare genetic...
Open Access

Journal Article

White matter microstructure of children with sensory over-responsivity is associated with affective behavior

Wren-Jarvis, Jamie; Powers, Rachel; Lazerwitz, Maia C.; Xiao, Jaclyn; Cai, Lanya T.; Choi, Hannah L.; Brandes-Aitken, Annie; Chu, Robyn; Trimarchi, Kaitlyn J.; Garcia, Rafael D.; Rowe, Mikaela A.; Steele, Mary C.; Marco, Elysa J.; Mukherjee, Pratik

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-023-09513-w pmid:38166648

BackgroundSensory processing dysfunction (SPD) is linked to altered white matter (WM) microstructure in school-age children. Sensory over-responsivity (SOR), a form of SPD, affects at least 2.5% of all children and has substantial deleterious impact on learning and mental health. However, SOR has...
Open Access

Journal Article

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children

Shchubelka, Khrystyna; Turova, Liudmyla; Wolfsberger, Walter; Kalanquin, Kelly; Williston, Krista; Kurutsa, Oleksii; Makovetska, Anastasiia; Hasynets, Yaroslava; Mirutenko, Violeta; Vakerych, Mykhailo; Oleksyk, Taras K

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09528-x pmid:38539105

BackgroundGlobal developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the...
Open Access

Journal Article

Differential cognitive and behavioral development from 6 to 24months in autism and fragile X syndrome

Mullin, Lindsay J.; Rutsohn, Joshua; Gross, Julia L.; Caravella, Kelly E.; Grzadzinski, Rebecca L.; Weisenfeld, Leigh Anne; Flake, Lisa; Botteron, Kelly N.; Dager, Stephen R.; Estes, Annette M.; Pandey, Juhi; Schultz, Robert T.; St. John, Tanya; Wolff, Jason J.; Shen, Mark D.; Piven, Joseph; Hazlett, Heather C.; Girault, Jessica B.

2024 Journal of Neurodevelopmental Disorders

doi:10.1186/s11689-024-09519-y pmid:38509470

BackgroundSpecifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile...

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