Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Is intellectual disability a treatable feature of persons with Down syndrome? Researchers have made tremendous progress in the last 30 years, from creating the first mouse model of Down syndrome to completing the first major clinical trial for cognitive impairment in people with Down syndrome. Until recently, normalizing brain development and function seemed too lofty a goal, and indeed, even proposing a candidate therapy requires answering a number of difficult questions. How does trisomy 21, a molecular diagnosis, cause the clinical phenotypes of Down syndrome? When, where, and how do trisomic genes act to disrupt normal development and which genes are involved with which outcomes? Which brain regions and behaviors are most impaired? Is there an early developmental window of time during which treatments are most effective? This article discusses how animal models such as laboratory mice can be used to understand intellectual disability and to develop new treatments for cognitive impairment.

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Case Study: Extension of a Systematic Data-Based Reinforcement System to Increase Independence in Public-School Inclusion Settings to a Student with Down Syndrome and Intellectual Disability

Education and Treatment of Children ◽

10.1353/etc.2018.0018 ◽

2018 ◽

Vol 41 (3) ◽

pp. 345-355

Author(s):

Audrey Gifford ◽

Caroline C. Redpath ◽

Karen M. Lionello-DeNolf

Keyword(s):

Down Syndrome ◽

Intellectual Disability ◽

Public School ◽

Systematic Data ◽

Reinforcement System

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Prenatal testing for intellectual disability: Misperceptions and reality with lessons from down syndrome

Developmental Disabilities Research Reviews ◽

10.1002/ddrr.135 ◽

2011 ◽

Vol 17 (1) ◽

pp. 27-31 ◽

Cited By ~ 8

Author(s):

Kruti Acharya

Keyword(s):

Down Syndrome ◽

Intellectual Disability ◽

Prenatal Testing

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Intellectual potential of pupils with Down syndrome and diagnosed intellectual disability in the opinion of their parents

Kultura-Społeczeństwo-Edukacja ◽

10.14746/kse.2020.18.14.2 ◽

2020 ◽

Vol 18 (2) ◽

Author(s):

Krystyna Popowska

Keyword(s):

Down Syndrome ◽

Intellectual Disability ◽

Speech Communication ◽

Special Schools ◽

Children With Down Syndrome ◽

Governmental Organizations ◽

Non Governmental Organizations ◽

The Social ◽

Intellectual Potential ◽

E Mail

Research was conducted to find out about the parents’ opinions on the intellectual potential of their children with Down syndrome and diagnosed intellectual disability studying in 4–8 grades of common, integration and special schools. Additionally, the factors determining the respondents’ opinions were analyzed. The paper uses the author’s questionnaire was placed on groups for parents of children with Down syndrome on the social network site Facebook. In addition, surveys were sent by e-mail to the primary school districts and non-governmental organizations that help children with Down syndrome. Fifty two questionnaires were collected. The results indicate that, despite intellectual disability, parents recognize the intellectual potential of their children. It can be assumed that assessments of the intellectual potential of students with Down syndrome and diagnosed intellectual disability are determined by their siblings in the intellectual norm, gender, using verbal speech, communication skills, social skills and opinions of their parents about their successes in school and progress as a result of the therapy.

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Validation of Hagerman’s behavioral phenotype for fragile X syndrome among men with intellectual disability

Advances in Mental Health and Intellectual Disabilities ◽

10.1108/amhid-09-2020-0020 ◽

2021 ◽

Vol ahead-of-print (ahead-of-print) ◽

Author(s):

Jacques Bellavance ◽

Morin Diane ◽

Catherine Mello

Keyword(s):

Down Syndrome ◽

Intellectual Disability ◽

Fragile X Syndrome ◽

Design Methodology ◽

Fragile X ◽

Behavioral Phenotype ◽

Care Providers ◽

Content Type

Purpose The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults. Design/methodology/approach A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers. Findings Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome. Originality/value This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

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