Article
Clinical Neurology
Gul Demet Kaya Ozcora, Elif Sobu, Ugur Gumus
Summary: This study aimed to report the genetic and phenotypic differences in patients with developmental and epileptic encephalopathy (DEE). The types of DEE detected were diverse, with the most common EEG abnormality being multifocal epileptic discharges. MRI scans were normal in the majority of patients, and 33% had refractory epilepsy. Next-generation sequencing is the only diagnostic technique available for patients with movement disorders, developmental delay, autism, and intellectual disability with or without epilepsy.
NEUROLOGICAL RESEARCH
(2023)
Article
Multidisciplinary Sciences
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Summary: The burden of X-linked coding variants in developmental disorders is similar in both males and females, indicating that the 1.4-fold male bias in DDs is not solely explained by X-linked causes. Statistical analysis of large datasets can refine our understanding of the inheritance modes for individual X-linked disorders.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Dominic J. Vita, Cole J. Meier, Kendal Broadie
Summary: Glia play a crucial role in remodeling neural circuits during development. FMRP acts within neurons to activate glial insulin receptors, facilitating Draper- and Shrub-dependent neuronal clearance.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Hoda M. Gebril, Tho Lai, Denise E. Fedele, Amir Wahba
Summary: Adenosine kinase (ADK), a crucial enzyme in adenosine metabolism, is involved in brain development and diseases. Mutations in the Adk gene are associated with developmental delay, stunted growth, and intellectual disability in humans. Study on transgenic mice expressing only ADK-S revealed that dysregulation of ADK expression during brain development profoundly affects brain growth and differentiation, leading to cerebellar abnormalities and accelerated cell death.
SCIENTIFIC REPORTS
(2023)
Article
Surgery
Brittany N. Hand, J. Madison Hyer, Austin Schenk, Alex Coyne, Daniel Gilmore, Lauren Wang, Aslam Ejaz
Summary: This study compares the evaluation rates, transplant rates, and outcomes of kidney transplant in adults with and without intellectual and developmental disabilities (IDD). It finds that adults with IDD have lower rates of evaluation and transplant, but equivalent outcomes. These findings support the consideration of adults with IDD for kidney transplant and highlight the need for antidiscrimination initiatives.
Article
Genetics & Heredity
Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernandez, Petr Danecek, Matteo P. Ferla, Kaitlin E. Samocha, Joanna Kaplanis, Eugene J. Gardner, Ruth Y. Eberhardt, Katherine R. Chao, Konrad J. Karczewski, Joannella Morales, Giuseppe Gallone, Meena Balasubramanian, Siddharth Banka, Lianne Gompertz, Bronwyn Kerr, Amelia Kirby, Sally A. Lynch, Jenny E. Morton, Hailey Pinz, Francis H. Sansbury, Helen Stewart, Britton D. Zuccarelli, Stuart A. Cook, Jenny C. Taylor, Jane Juusola, Kyle Retterer, Helen Firth, Matthew E. Hurles, Enrique Lara-Pezzi, Paul J. R. Barton, Nicola Whiffin
Summary: This study highlights the significant role of non-coding region variants in the diagnosis of developmental disorders, particularly through various loss-of-function mechanisms. These variants may be overlooked in traditional clinical genetics approaches, but are easily detectable through exome sequence data.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Pediatrics
Anne C. Wheeler, Angela Gwaltney, Melissa Raspa, Katherine C. Okoniewski, Elizabeth Berry-Kravis, Kelly N. Botteron, Dejan Budimirovic, Heather Cody Hazlett, David Hessl, Molly Losh, Gary E. Martin, Susan M. Rivera, Jane E. Roberts, Donald B. Bailey
Summary: Children with FMR1 gene full mutation demonstrate significant developmental delays in early childhood, emphasizing the need for earlier identification and intervention to maximize effectiveness.
Article
Law
Isabella G. Neuberg
Summary: Despite federal laws prohibiting discrimination against people with intellectual and developmental disabilities in the organ transplant process, they still face discrimination in practice. While some states have passed legislation to prohibit such discrimination, these laws are not yet effectively implemented. Improvements are needed in current state statutes to protect people with intellectual and developmental disabilities from discrimination.
Article
Biology
David W. Jia, Tim P. Vogels, Rui Ponte Costa
Summary: This article investigates the effects of developmental changes in the short-term dynamics of excitatory synapses on neural activity stability. Using computational modeling, it is found that early in development, short-term depression of excitatory synapses stabilizes neural activity, while inhibitory synaptic plasticity balances excitation throughout development. The study also predicts changes in input responses and the emergence of short-lasting memory traces.
COMMUNICATIONS BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Mohammed A. Basar, David B. Beck, Achim Werner
Summary: Metazoan development from a one-cell zygote to a fully formed organism requires complex cellular differentiation and communication pathways. To coordinate these processes, embryos frequently encode signaling information with the small protein modifier ubiquitin, which is typically attached to lysine residues within substrates. DUBs, a class of similar to 100 human enzymes, critically regulate ubiquitin signaling and control many essential cellular functions and various aspects of human physiology and development. Recent genetic studies have identified mutations in several DUBs that cause developmental disorders.
CELL DEATH AND DIFFERENTIATION
(2021)
Article
Medicine, General & Internal
Feng-Juan Ding, Gui-Zhen Lyu, Victor Wei Zhang, Hua Jin
Summary: The DYNC1H1 gene mutation can lead to axonal Charcot-Marie-Tooth disease type 20, mental retardation 13, and spinal muscular atrophy with lower extremity predominant 1. A case report described a Chinese female child with a DYNC1H1 gene mutation presenting with delayed development and muscle weakness. Unfortunately, there is currently no effective treatment for this condition.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Neurosciences
Juan Javier Lopez-Rivera, Luna Rodriguez-Salazar, Alejandro Soto-Ospina, Carlos Estrada-Serrato, David Serrano, Henry Mauricio Chaparro-Solano, Olga Londono, Paula A. Rueda, Geraldine Ardila, Andres Villegas-Lanau, Marcela Godoy-Corredor, Mauricio Cuartas, Jorge Velez, Oscar M. Vidal, Mario A. Isaza-Ruget, Mauricio Arcos-Burgos
Summary: This study utilized whole-exome capture and next-generation sequencing to investigate a patient with congenital hypotonia, motor and cognitive neurodevelopmental delay, and severe cognitive deficit. A de novo pathogenic mutation in the PURA gene was identified, and molecular analyses revealed the structural impact of the mutation on the protein. This research highlights the importance of predicting molecular effects in protein structures using artificial intelligence algorithms and molecular analyses.
Review
Clinical Neurology
Carlos Pascual-Morena, Ivan Cavero-Redondo, Celia Alvarez-Bueno, Estela Jimenez-Lopez, Alicia Saz-Lara, Irene Martinez-Garcia, Vicente Martinez-Vizcaino
Summary: The aim of this study was to estimate the global prevalence of intellectual developmental disorder (IDD) and the association between IDD prevalence and genotypes in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD). The results showed a high prevalence of IDD in BMD and DMD, and a negative association between the number of affected isoforms and IDD prevalence in DMD. However, no association was found in BMD.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Education, Special
Anna Cecilia McWhirter, Laura Lee McIntyre
Summary: Religious and spiritual involvement may have an impact on the mental health of parents of children with developmental delay, but it is not the sole determining factor. Family characteristics, child characteristics, and environmental factors are all closely related to parent mental health.
JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
(2021)
Review
Pediatrics
Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei Wu
Summary: In this study, whole exome sequencing, copy number variation sequencing, and mitochondrial gene detection were used to identify a microdeletion of 11q13.3q13.4 in a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations. The SHANK2 gene may be responsible for the intellectual disability phenotype, while the ANO1 gene may be associated with the renal manifestation of Fanconi renotubular syndrome. This case adds a new phenotype to the deletion of this region.
FRONTIERS IN PEDIATRICS
(2023)