Results 31 to 40 of about 594,426 (300)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Infantilizing Autism

Disability Studies Quarterly, 2011
When members of the public envision the disability of autism, they most likely envision a child, rather than an adult. In this empirically based essay, three authors, one of whom is an autistic self-advocate, analyzed the role played by parents, charitable organizations, the popular media, and the news industry in infantilizing autism.
Jennifer L, Stevenson, Bev, Harp, Morton Ann, Gernsbacher   +2 more
openaire   +2 more sources

Global increases in both common and rare copy number load associated with autism. [PDF]

, 2013
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been ...
Baker, Carl, Balciuniene, Jorune, Eichler, Evan E, Fox, Keolu, Girirajan, Santhosh, Hansen, Robin, Hertz-Picciotto, Irva, Johnson, Rebecca L, Katiyar, Neerja, Khoo, Su Jen, Nauth, Therese B, Pessah, Isaac N, Ritchie, Marylyn, Selleck, Scott B, Srikanth, Abhinaya, Tassone, Flora, Yeoh, Kian Hui   +16 more
core   +2 more sources

PeakCaller: an automated graphical interface for the quantification of intracellular calcium obtained by high-content screening

BMC Neuroscience, 2017
Background Intracellular calcium is an important ion involved in the regulation and modulation of many neuronal functions. From regulating cell cycle and proliferation to initiating signaling cascades and regulating presynaptic neurotransmitter release ...
Elena Artimovich, Russell K. Jackson, Michaela B. C. Kilander, Yu-Chih Lin, Michael W. Nestor   +4 more
doaj   +1 more source

Selective Serotonin Reuptake Inhibitors for the Treatment of Depression in Adults with Down Syndrome: A Preliminary Retrospective Chart Review Study

Brain Sciences, 2021
Background: Depression is a common psychiatric comorbidity in individuals with Down syndrome (DS), particularly adults, with an estimated lifetime prevalence of at least 10%.
Robyn P. Thom, Michelle L. Palumbo, Claire Thompson, Christopher J. McDougle, Caitlin T. Ravichandran   +4 more
doaj   +1 more source

High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. [PDF]

, 2009
Chromosome 17q11-q21 is a region of the genome likely to harbor susceptibility to autism (MIM(209850)) based on earlier evidence of linkage to the disorder.
Cantor, RM, Geschwind, DH, Merriman, B, Nelson, SF, Stone, JL, Strom, SP, Ten Bosch, JR   +6 more
core   +3 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Parenting Stress and Stressful Life Events Among Caregivers of Toddler Siblings of Autistic and Non-Autistic Children. [PDF]

Autism Res
ABSTRACT This study measured experiences of parenting stress and stressful life events in caregivers of families with a toddler who has either an autistic or non‐autistic older sibling(s). Caregivers of toddlers (12–18 months old) with older autistic siblings (Sibs‐autism; n = 58) and toddlers with older non‐autistic siblings (Sibs‐NA; n = 46 ...
Magnuson JE, King LS, Feldman JI, Clark SM, Pulliam G, Dunham-Carr K, Golden A, Kaysılı BK, Humphreys KL, Woynaroski TG.   +9 more
europepmc   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Pharmacological treatment in autism: a proposal for guidelines on common co-occurring psychiatric symptoms

BMC Medicine
Background The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020.
Mariah A. Manter, Kirstin B. Birtwell, James Bath, Nora D. B. Friedman, Christopher J. Keary, Ann M. Neumeyer, Michelle L. Palumbo, Robyn P. Thom, Emily Stonestreet, Hannah Brooks, Kelly Dakin, Jacob M. Hooker, Christopher J. McDougle   +12 more
doaj   +1 more source