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

2011 ◽  
Vol 17 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Kruti Acharya
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Prenatal Testing

Parenting the Child With Down Syndrome: Understanding—but Going Beyond—the “Down Syndrome Advantage”

2020 ◽  
Author(s):  
Robert M. Hodapp ◽  
Ellen G. Casale
Keyword(s):  
Socioeconomic Status ◽  
Down Syndrome ◽  
Behavior Problems ◽  
Prenatal Testing ◽  
Children With Autism ◽  
Facial Features ◽  
Cultural Resources ◽  
Noninvasive Prenatal Testing ◽  
Birth Parents ◽  
Children With Down Syndrome

Compared to parents of children with other types of intellectual disabilities, parents of children with Down syndrome experience less stress and more rewards, although this “Down syndrome advantage” mostly occurs compared to parents of children with autism and before groups are equated. Behaviorally, children with Down syndrome display more sociable interactional styles and baby-faced facial features, along with fewer instances of severe behavior problems. Demographically, parents of children with (versus without) Down syndrome average 5 years older when giving birth; parents are more often well educated, married, of higher socioeconomic status, and they likely provide these children greater financial and cultural resources. In most industrialized societies, rates of Down syndrome seem steady, with easily available, noninvasive prenatal testing counteracted by increasing numbers of women giving birth at older ages. Parenting children with Down syndrome relates to characteristics of children, their parents, and society, all of which intersect in important, underexplored ways.

scholarly journals A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chunyan Jin ◽  
Zhiping Gu ◽  
Xiaohan Jiang ◽  
Pei Yu ◽  
Tianhui Xu
Keyword(s):  
Down Syndrome ◽  
Pregnant Woman ◽  
Prenatal Testing ◽  
Chromosome 21 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Serological Screening ◽  
Partial Duplication ◽  
Her Family ◽  
Clinical Consequences

Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. Case presentation Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The NIPT results revealed a 5.8 Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7 Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy. Conclusion Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.

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

2015 ◽  
Vol 96 (5) ◽  
pp. 816-825 ◽  
Author(s):  
Marcello Niceta ◽  
Emilia Stellacci ◽  
Karen W. Gripp ◽  
Giuseppe Zampino ◽  
Maria Kousi ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability

Non-invasive prenatal testing for Down syndrome

2014 ◽  
Vol 19 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Philip Twiss ◽  
Melissa Hill ◽  
Rebecca Daley ◽  
Lyn S. Chitty
Keyword(s):  
Down Syndrome ◽  
Prenatal Testing ◽  
Non Invasive

Animal Models of Down Syndrome

2021 ◽  
Author(s):  
Anna J. Moyer ◽  
Roger H. Reeves
Keyword(s):  
Down Syndrome ◽  
Cognitive Impairment ◽  
Intellectual Disability ◽  
Animal Models ◽  
Brain Regions ◽  
Laboratory Mice ◽  
Tremendous Progress ◽  
New Treatments ◽  
And Function ◽  
Early Developmental

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.

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

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. 

Sign in / Sign up

Export Citation Format

Share Document