down syndrome case study with data

Background: Down syndrome (DS) is the most common genetic cause of intellectual disability. Prior research has primarily focused on associated medical problems and skill deficits. This study takes a novel positive psychology approach by examining critical individual characteristics and environmental factors that facilitate exceptional quality of life for people with DS.

Henrietta Gutierrez, Jorden's mom, was 17 weeks pregnant and living in Southern California when she learned that her developing baby had Down syndrome, a chromosomal condition that affects the way a baby's body and brain develop. Further testing showed that the fetus also had a hole in its heart, which is common for babies with Down syndrome.

The physical features and medical problems associated with Down syndrome can vary widely from child to child 2 This article presents a case report of a 21-year old male patient with the classical ...

[email protected]. Content Owner Office of Communications Last Reviewed Date 2/8/2024. NIH Research on DSDS is one of many Research, Condition, and Disease Categories (RCDC) that NIH studies. NIH's research portfolio on DS includes efforts to understand all aspects of the condition, including related health problems and health outcomes.

Method A qualitative multiple case study design was used to document the lives of four adults thriving with DS. Thriving was defined as high subjective well‐being coupled with continued personal ...

Exposure to research results and sharing the successes in a case study can help build trust. ... systematic collection of biological and standardized and consistent behavioral data across studies and sites. ... attitudes toward enhancing cognition and clinical research trials in Down syndrome: a mixed methods study. J Dev Behav Pediatr. 2021. ...

For example, for Down syndrome associated Alzheimer's disease, two case scenarios have been envisioned: the development of a drug for prevention of Alzheimer's disease in Down syndrome using the accelerated approval regulations and the development of supplemental data on efficacy or safety for drugs approved for late onset Alzheimer's disease.

Thriving with Down Syndrome: A Qualitative Multiple Case Study . Abstract . Down syndrome (DS) is a chromosomal abnormality associated with intellectual disability (ID) and multiple medical complications. However, despite significant deficits related to the disability, there are people with DS who are thriving in our community.

Download Full Case Study & Rubric. Policies. The parents of a 6-year-old girl with Down syndrome consulted an IPP team to get help with their daughter's communication skills. The IPP team evaluated the girl, made recommendations, and helped the family purchase an augmentative and alternative communication (AAC) device to use at home.

Using a case study of integration into a mainstream primary school for his daughter with Down syndrome, the author seeks to explore the attitudinal development of her mainstream peers after a four-year period. As such, it is a first step, tentative piece of research, fraught with potential pitfalls. As Bines (1995) points out as a 'researcher [I am] inevitably part of the phenomenon being ...

This case study focuses on the ongoing physical therapy management of Carrie, a child with Down syndrome. Carrie has received physical therapy services from the age of 4 weeks to the present. For individuals with Down syndrome, episodes of physical therapy services may be necessary across the life span to address changing issues as growth ...

In Experiment 2, we perform a case study on real EMR data, in which we compare subjects with Down Syndrome (DS) to controls with other Intellectual or Developmental Disabilities (IDD). A listing of all pyPheWAS commands used to implement these experiments are included in Appendix A. Experiment 1: Synthetic Dataset Dataset Construction

Jan 2015. AM J MED GENET A. Paulie Papavassiliou. Chariyawan Charalsawadi. Kelly Rafferty. Colleen Jackson-Cook. View. Show abstract. Clinical, social, and ethical implications of changing life ...

The birth prevalence of congenital heart disease (CHD) is 1% to 2% globally and is associated with several syndromes. 1, 2 Previous reports have shown that half of the children with Down syndrome (DS) have associated CHD, and the most common types are atrioventricular septal defect, ventricular septal defect, and tetralogy of Fallot. 3, 4 ...

Down Syndrome: A Case Study. Kobey Gabriel. 2012, UMAK Graduate School. Intellectual Disability is a form of developmental disability in which person's intelligence and abilities to adjust to various situations and environment are below what expected of his or her age. A child with mental retardation may experience difficulty in learning ...

In case of any missing data, the concerned author of the respective research paper will be contacted for further information. ... an evidence base to identify the financial burden and plan evidence-informed interventions for children suffering from Down syndrome. The study will provide insight into the challenges of families of people with ...

Case Study of 17-year-old with Down syndrome. SC is a 17-year-old with Down syndrome. In addition, she has been diagnosed with sensory processing disorder, social anxiety disorder, psychosis, developmental regression and more. The Listening Program® was combined with vision therapy to help her overcome her developmental deficits.