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Evaluating Patients with Mucopolysaccharidosis Type III: A Scoping Review on Diagnostic and Follow-Up Approaches
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Agustina Sabino Romagnoli; Letícia Nunes Campos; Daniel Fernandez-Guzman; Sofia Wagemaker; Federico Fernandez Zelcer; Carlos Stegmann; Carina F. Argüelles; Laura F. Sosa; Ayla Gerk; Jorgelina Stegmann – Journal of Applied Research in Intellectual Disabilities, 2025
Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…
Descriptors: Clinical Diagnosis, Patients, Genetic Disorders, Diseases
DNA Methylation of the Oxytocin Receptor across Neurodevelopmental Disorders
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Siu, Michelle T.; Goodman, Sarah J.; Yellan, Isaac; Butcher, Darci T.; Jangjoo, Maryam; Grafodatskaya, Daria; Rajendram, Rageen; Lou, Youliang; Zhang, Rujun; Zhao, Chunhua; Nicolson, Rob; Georgiades, Stelios; Szatmari, Peter; Scherer, Stephen W.; Roberts, Wendy; Anagnostou, Evdokia; Weksberg, Rosanna – Journal of Autism and Developmental Disorders, 2021
Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, "OXTR," in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD)…
Descriptors: Genetics, Autism, Pervasive Developmental Disorders, Biochemistry
Gene-Environment Interaction in Externalizing Problems among Adolescents: Evidence from the Pelotas 1993 Birth Cohort Study
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Kieling, Christian; Hutz, Mara H.; Genro, Julia P.; Polanczyk, Guilherme V.; Anselmi, Luciana; Camey, Suzi; Hallal, Pedro C.; Barros, Fernando C.; Victora, Cesar G.; Menezes, Ana M. B.; Rohde, Luis Augusto – Journal of Child Psychology and Psychiatry, 2013
Background: The study of gene-environment interactions (G by E) is one of the most promising strategies to uncover the origins of mental disorders. Replication of initial findings, however, is essential because there is a strong possibility of publication bias in the literature. In addition, there is a scarcity of research on the topic originated…
Descriptors: Genetics, Biochemistry, Prenatal Influences, Smoking
Memory and Learning--Using Mouse to Model Neurobiological and Behavioural Aspects of Down Syndrome and Assess Pharmacotherapeutics
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Gardiner, Katheleen – Down Syndrome Research and Practice, 2009
Mouse models are a standard tool in the study of many human diseases, providing insights into the normal functions of a gene, how these are altered in disease and how they contribute to a disease process, as well as information on drug action, efficacy and side effects. Our knowledge of human genes, their genetics, functions, interactions and…
Descriptors: Genetics, Symptoms (Individual Disorders), Down Syndrome, Memory
TPH2 G/T Polymorphism Is Associated with Hyperphagia, IQ, and Internalizing Problems in Prader-Willi Syndrome
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Dykens, Elisabeth M.; Roof, Elizabeth; Bittel, Douglas; Butler, Merlin G. – Journal of Child Psychology and Psychiatry, 2011
Background: Prader-Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the…
Descriptors: Behavior Problems, Obesity, Mental Retardation, Intelligence Quotient
Experimental Evidence for Differential Susceptibility: Dopamine D4 Receptor Polymorphism (DRD4 VNTR) Moderates Intervention Effects on Toddlers' Externalizing Behavior in a Randomized Controlled Trial
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Bakermans-Kranenburg, Marian J.; Van Ijzendoorn, Marinus H.; Pijlman, Femke T. A.; Mesman, Judi; Juffer, Femmie – Developmental Psychology, 2008
In a randomized controlled trial we tested the role of genetic differences in explaining variability in intervention effects on child externalizing behavior. One hundred fifty-seven families with 1- to 3-year-old children screened for their relatively high levels of externalizing behavior participated in a study implementing Video-feedback…
Descriptors: Intervention, Discipline, Hyperactivity, Attention Deficit Disorders