Search results for "Developmental disorders"
showing 10 items of 87 documents
Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster
2016
AbstractAbout two-thirds of the vital genes in the Drosophila genome are involved in eye development, making the fly eye an excellent genetic system to study cellular function and development, neurodevelopment/degeneration, and complex diseases such as cancer and diabetes. We developed a novel computational method, implemented as Flynotyper software (http://flynotyper.sourceforge.net), to quantitatively assess the morphological defects in the Drosophila eye resulting from genetic alterations affecting basic cellular and developmental processes. Flynotyper utilizes a series of image processing operations to automatically detect the fly eye and the individual ommatidium, and calculates a phen…
Criss‐crossing autism spectrum disorder and adult neurogenesis
2021
Autism spectrum disorder (ASD) comprises a group of multifactorial neurodevelopmental disorders primarily characterized by deficits in social interaction and repetitive behavior. Although the onset is typically in early childhood, ASD poses a lifelong challenge for both patients and caretakers. Adult neurogenesis (AN) is the process by which new functional neurons are created from neural stem cells existing in the post-natal brain. The entire event is based on a sequence of cellular processes, such as proliferation, specification of cell fate, maturation, and ultimately, synaptic integration into the existing neural circuits. Hence, AN is implicated in structural and functional brain plasti…
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
2017
To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements.Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition,…
Higher vitamin B12 levels in neurodevelopmental disorders than in healthy controls and schizophrenia
2020
Recent studies suggest that both high and low levels of vitamin B12 (vitB12) may have negative health impacts. We measured VitB12 in patients with the Neurodevelopmental disorders (ND) (n = 222), comprised of Autism Spectrum Disorders, specific Developmental disorders, and Intellectual Disability (aged 2-53 years), schizophrenia (n = 401), and healthy controls (HC) (n = 483). Age-and gender-adjusted vitB12 z-scores were calculated by comparisons with a reference population (n = 76 148). We found higher vitB12 in ND (median 420 pmol/L, mean z-score: 0.30) than in HC (316 pmol/L, z-score: 0.06, P < .01) and schizophrenia (306 pmol/L, z-score: -0.02, P < .001), which was significant after adju…
Maternal Thyroid Function in Early Pregnancy and Child Attention-Deficit Hyperactivity Disorder: An Individual-Participant Meta-Analysis
2019
Background: Thyroid hormone is essential for optimal fetal brain development. Evidence suggests that both low and high maternal thyroid hormone availability may have adverse effects on child neurodevelopmental outcomes, but the effect on behavioral problems remains unclear. We studied the association of maternal thyrotropin (TSH) and free thyroxine (fT4) concentrations during the first 18 weeks of pregnancy with child attention-deficit hyperactivity disorder (ADHD). Methods: A total of 7669 mother-child pairs with data on maternal thyroid function and child ADHD were selected from three prospective population-based birth cohorts: INfancia y Medio Ambiente (INMA; N = 1073, Spain), Generation…
Association of Cesarean Delivery With Risk of Neurodevelopmental and Psychiatric Disorders in the Offspring: A Systematic Review and Meta-analysis.
2019
This systematic review and meta-analysis examines the association between birth by cesarean delivery and risk of neurodevelopmental and psychiatric disorders in the offspring compared with birth by vaginal delivery.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
2022
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%)…
Decoding Children's Social Behavior
2013
We introduce a new problem domain for activity recognition: the analysis of children's social and communicative behaviors based on video and audio data. We specifically target interactions between children aged 1-2 years and an adult. Such interactions arise naturally in the diagnosis and treatment of developmental disorders such as autism. We introduce a new publicly-available dataset containing over 160 sessions of a 3-5 minute child-adult interaction. In each session, the adult examiner followed a semi-structured play interaction protocol which was designed to elicit a broad range of social behaviors. We identify the key technical challenges in analyzing these behaviors, and describe met…
Microglia in CNS development: Shaping the brain for the future
2017
Microglial cells are the resident macrophages of the central nervous system (CNS) and are mainly known for their roles in neuropathologies. However, major recent developments have revealed that these immune cells actively interact with neurons in physiological conditions and can modulate the fate and functions of synapses. Originating from myeloid precursors born in the yolk sac, microglial cells invade the CNS during early embryonic development. As a consequence they can potentially influence neuronal proliferation, migration and differentiation as well as the formation and maturation of neuronal networks, thereby contributing to the entire shaping of the CNS. We review here recent evidenc…
Enhanced Spatial Navigation Skills in Sequence-Space Synesthetes
2018
Contains fulltext : 219554.pdf (Publisher’s version ) (Closed access) Individuals with sequence-space synesthesia (SSS) perceive sequences like months, days and numbers in certain spatial arrangements. Several cognitive benefits have been associated with SSS, such as enhanced mental rotation, more vivid visual imagery and an advantage in spatial processing. The current study aimed to further investigate these cognitive benefits, focusing on spatial navigation skills, to explore if their enhanced sensitivity to spatial relations is reflected in enhanced navigational performance. Synesthetes were distinguished from controls by means of a questionnaire, a consistency test and drawings. A virtu…