scholarly journals Enhanced learning to improve letter knowledge in children with Down syndrome and severe intellectual disability: A case report

2020 ◽  
Vol 8 (12) ◽  
pp. 2447-2451
Author(s):  
Haruo Fujino ◽  
Yumeho Imatome
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Intellectual Disability ◽  
Letter Knowledge ◽  
Children With Down Syndrome ◽  
Severe Intellectual Disability ◽  
Enhanced Learning

More severe intellectual disability found in teenagers compared to younger children with Down syndrome

2018 ◽  
Vol 108 (5) ◽  
pp. 961-966 ◽  
Author(s):  
Ulrika Wester Oxelgren ◽  
Åsa Myrelid ◽  
Göran Annerén ◽  
Joakim Westerlund ◽  
Jan Gustafsson ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Children With Down Syndrome ◽  
Severe Intellectual Disability

Services for Children with Down Syndrome

1994 ◽  
Vol 18 (1) ◽  
pp. 37-46
Author(s):  
Phil Foreman
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Speech Therapy ◽  
Service Providers ◽  
Older Children ◽  
Children With Down Syndrome ◽  
School Aged Children ◽  
Severe Intellectual Disability ◽  
School Placement ◽  
Health And Development

Parents of 221 school-aged children with Down syndrome completed a questionnaire about their experiences with service-providers from the time of diagnosis of their child’s disability. These experiences were compared with those of 782 parents of children with moderate or severe intellectual disability, with disabilities other than Down syndrome. Down syndrome was the earliest diagnosed disability, the average age of suspicion being two weeks and of diagnosis four weeks. Two-thirds of the children with Down syndrome had at least one additional disability, some having up to four additional disabilities. Some differences were apparent between older and younger children in the sample. Parents of younger children with Down syndrome were less likely to report inaccurate predictions about their child’s health and development. Children with Down syndrome were significantly more likely than children with other disabilities to be receiving speech therapy and significantly less likely to be receiving occupational therapy or physiotherapy. Parents of younger children with Down syndrome were more likely than parents of older children with Down syndrome or of children with other disabilities to regard an integrated school placement as ideal for their child, and their children were more likely to be in integrated settings.

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

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. 

scholarly journals Observational Assessment and Maternal Reports of Motivation in Children and Adolescents With Down Syndrome

2011 ◽  
Vol 116 (2) ◽  
pp. 153-164 ◽  
Author(s):  
Linda Gilmore ◽  
Monica Cuskelly
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Children And Adolescents ◽  
Group Differences ◽  
Typically Developing ◽  
Observational Assessment ◽  
Typically Developing Children ◽  
Significant Group ◽  
Children With Down Syndrome ◽  
Maternal Reports

Abstract Despite a lack of consistent empirical evidence, there has been an ongoing assumption that intellectual disability is associated with reduced levels of motivation. The participants in this study were 33 children with Down syndrome ages 10–15 years and 33 typically developing 3–8-year-old children. Motivation was measured through observational assessments of curiosity, preference for challenge, and persistence, as well as maternal reports. There were no significant group differences on motivation tasks, but mothers of children with Down syndrome rated their children significantly lower on motivation than did parents of typically developing children. There were some intriguing group differences in the pattern of correlations among observations and parent reports. The findings challenge long-held views that individuals with intellectual disability are invariably deficient in motivation.

scholarly journals Cystic Lung Disease in Down Syndrome: A Case Report and Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Mathew George ◽  
John Amodio ◽  
Haesoon Lee
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Case Report ◽  
Congenital Heart ◽  
Endocardial Cushion ◽  
Lung Cysts ◽  
Children With Down Syndrome ◽  
Cystic Lung ◽  
Endocardial Cushion Defect

Subpleural lung cysts (SPC) are seen in children with Down syndrome (DS). The incidence and the long term course of these lesions are not known. It is important for pediatricians and pediatric radiologists to be aware of these lung lesions since the DS patients’ longevity has increased and they have greater frequency to encounter the clinicians. Autopsy and the radiology series have shown that these lesions are often found in association with congenital heart disease, particularly the endocardial cushion defect and prematurity.

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