Genetic disorders as models of mathematics learning disability: Fragile X and Turner syndromes

BackgroundMedicine is rapidly becoming molecular medicine, and little escapes the grasp of modern genetics. Most disorders associated with learning disability have at least a genetic component influencing their expression; in many disorders, disturbances of genetic mechanisms play a pivotal role.AimsDynamic mutations, imprinting mechanisms and gene-dosage effects are explained with reference to genetic disorders that lead to learning disability.MethodA review of recent important studies in the genetics of learning disability.ResultsA host of new genetic connections to conditions associated with learning disability have been made.ConclusionsA basic understanding of these genetic connections is important for all learning disability psychiatrists if they are to follow the rapid changes – already beginning to influence our practice – that hold immense promise for the future.

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Muscle, Connective Tissue, and Neonatal Disorders

Examining the Causal Relationship Between Genes, Epigenetics, and Human Health - Advances in Bioinformatics and Biomedical Engineering ◽

10.4018/978-1-5225-8066-9.ch017 ◽

2019 ◽

pp. 425-467

Keyword(s):

Connective Tissue ◽

Fragile X ◽

Genetic Disorders ◽

Human Muscle ◽

Muscle System ◽

Anchor Points ◽

Ellis Van Creveld Syndrome ◽

Lateral Sclerosis ◽

And Cartilage ◽

Fibrodysplasia Ossificans Progressive

The skeleton provides the framework and anchor points against which muscles, attached via tendons, can exert force. Three types of cells are involved in making bone: osteoblasts, osteoclasts, and cartilage. The human muscle system is made up of three types of muscle tissue: skeletal, cardiac, and smooth. The neonate period of life is the first 4 weeks after the birth of an infant. This chapter presents 11 genetic disorders that affect muscles, connective tissue, and newborns. These include achondroplasia, Charcot-Marie tooth syndrome, Duchenne Muscular Dystrophy, Ellis-Van Creveld syndrome, amyotrophic lateral sclerosis, Marfan syndrome, fibrodysplasia ossificans progressive, myotonic dystrophy, Angelman syndrome, Prader-Willi syndrome, fragile-X syndrome, and Waardenburg syndrome.

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Studying the Impact of Video Modeling for Algebra Instruction for Students With Learning Disabilities

The Journal of Special Education ◽

10.1177/0022466920937467 ◽

2020 ◽

pp. 002246692093746

Author(s):

Rajiv Satsangi ◽

Rachel H. Billman ◽

Alexandra R. Raines ◽

Anna M. Macedonia

Keyword(s):

Learning Disability ◽

Student Performance ◽

Secondary Students ◽

Video Modeling ◽

Mathematics Learning ◽

Severe Disabilities ◽

Appropriate Technology ◽

Probe Design ◽

Single Subject ◽

The Impact

Video modeling possesses an established research base for teaching students with severe disabilities. However, the application of this strategy for teaching academic skills to students with a learning disability is less known, particularly in secondary mathematics. Video modeling provides a resource for supplementary instruction using age appropriate technology to support student learning. To explore the use of this strategy in Algebra, this study assessed video modeling paired with a system of prompting to teach three secondary students with a mathematics learning disability how to graph linear equations. Using a single subject multiple probe design, student performance across multiple measures including problem-solving accuracy and independence improved for all three students during treatment phases. These results and their implications for the broader field of mathematics education are discussed.

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Do children with mathematics learning disability in Hong Kong perceive word problems differently?

Learning and Instruction ◽

10.1016/j.learninstruc.2020.101352 ◽

2020 ◽

Vol 68 ◽

pp. 101352

Author(s):

Eason Sai-Kit Yip ◽

Terry Tin-Yau Wong ◽

Sing-Hang Cheung ◽

Kelvin King-Wun Chan

Keyword(s):

Hong Kong ◽

Learning Disability ◽

Word Problems ◽

Mathematics Learning

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Fragile X syndrome

InnovAiT Education and inspiration for general practice ◽

10.1177/1755738020958183 ◽

2020 ◽

Vol 13 (12) ◽

pp. 712-716

Author(s):

Rebecca Dunphy

Keyword(s):

Primary Care ◽

Learning Disability ◽

Fragile X Syndrome ◽

Clinical Features ◽

Neurodevelopmental Disorders ◽

Fragile X ◽

Healthcare Services ◽

Diagnosis And Management ◽

Genetic Causes

Fragile X syndrome is one of the most common genetic causes of learning disability. Patients with this and other neurodevelopmental disorders will often present to primary care before a diagnosis is made, and this can be challenging and worrying for patients and other carers. These patients may face a number of barriers in accessing healthcare services including communication, behavioural and sensory difficulties. It may be difficult to understand whether symptoms are part of their condition or because of a comorbidity that needs to be addressed. Input from families and carers can be vital in helping with diagnosis. This article aims to outline the key clinical features, diagnosis and management of this syndrome.

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Genetic testing in patients with global developmental delay/intellectual disabilities. A review

Medicine and Pharmacy Reports ◽

10.15386/cjmed-461 ◽

2015 ◽

Vol 88 (3) ◽

pp. 288-292 ◽

Cited By ~ 9

Author(s):

Diana Miclea ◽

Loredana Peca ◽

Zina Cuzmici ◽

Ioan Victor Pop

Keyword(s):

Intellectual Disability ◽

Genetic Testing ◽

Developmental Disabilities ◽

Developmental Delay ◽

Chromosomal Abnormalities ◽

Fragile X ◽

Genetic Disorders ◽

Global Developmental Delay ◽

European Guidelines ◽

High Prevalence

Genetic factors are responsible for up to 40 % developmental disability cases, such as global developmental delay/ intellectual disability (GDD/DI). The American and more recently, the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI.

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