Prenatal Diagnosis and Screening for Aneuploidy
Vincenzo Berghella in Obstetric Evidence Based Guidelines, 2022
Neonatal echocardiogram and physical exam to assess any anomaly. Surgery may need to be scheduled for GI or cardiac anomalies. Down syndrome presents with a wide variety of features and characteristics. A wide range of intellectual disability and developmental delay is noted among children with Down syndrome. There is a great deal of variability in the presence of other anomalies such as CHD, GI, and hematologic problems in these children. Hypothyroidism occurs in a high percentage of individuals with Down syndrome and should be monitored closely for their lifetime. Early intervention and specialized help with education and home rearing have improved the outcome in children with this condition. Many young adults with Down syndrome move in to community living arrangements and work regular jobs or in sheltered workshops.
Selections of Brilliant Imperfection
Joel Michael Reynolds, Christine Wieseler in The Disability Bioethics Reader, 2022
Every day doctors pressure pregnant people to undergo genetic testing, and counselors release the results and guide the course of the conversations that follow. As a result, prospective parents in the USA decide to abort about two-thirds of fetuses predicted to have Down.10 This termination of pregnancy for the specific reason of not wanting a disabled child clearly manipulates the present. Eradication happens in this moment, but it also extends into a future that is no more than nine months away. In that future, one less person with Down syndrome exists. The choice of each individual parent stacks up until thousands of fetuses predicted to have Down are aborted every year. I’m less interested in the rightness or wrongness of these choices by themselves than in the distinct pattern they create when placed side by side, exposing the systemic desire to erase a whole group of people. This future-focused eradication is easy to shrug past, because many of us have been seduced into believing the need to eliminate disability and “defectiveness” is intuitively obvious.
Prenatal diagnosis, antenatal screening and reproductive aspects of medical genetics
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
Specific mention should be made of Down syndrome in this regard. The lives of many people with Down syndrome are of such a quality that many families with an affected child believe that termination of pregnancy for Down syndrome would usually be inappropriate and that the screening programmes established primarily to detect (and terminate) pregnancies affected by Down syndrome are also inappropriate and may be offensive. However, this does not match the experiences and wishes of other families and of parents who feel unable to cope well with an affected child. Down syndrome is highly variable in the severity of the physical complications, including especially the cardiac malformations that affect at least 40%, and of the associated cognitive impairment. The outlook for survival is very different in societies where facilities for paediatric cardiac and gastrointestinal surgery are restricted. In developed nations, affected individuals may have a happy childhood and a fulfilling life but may also be well aware that they are ‘different’, and they may feel the burden of this stigma. This is not the place for a full debate on the ethics of antenatal screening for Down syndrome; suffice it to say here that it is a complex matter and that there is more than one perspective that must be heard with respect.
Factor structure of early numeracy: evaluation of a measurement model in greek-speaking children with intellectual disabilities
Published in International Journal of Developmental Disabilities, 2023
Garyfalia Charitaki, Spyridon–Georgios Soulis, Anastasia Alevriadou
More specifically, children with IDs suffer from significant numeracy deficits (Sella et al.2013) and empirical as well as theoretical data seem to be scarce in terms of EN structure (Ansari and Karmiloff-Smith 2002, Sermier Dessemontet et al.2020). Existing literature provides some insights of EN attainments in general of young children with Down syndrome (Belacchi et al.2014, Brodeur et al.2013, Brigstocke et al.2008, Camos 2009, Charitaki et al. 2014a, 2014b, 2015, Clarke and Faragher 2014, Porter, 1999, 2018, 2019, Herrera et al. 2010, King et al.2017, Lanfranchi et al.2015, Noda and Bruno 2017) and Williams syndrome (O’Hearn and Landau 2007, Paterson et al.2006). Additionally, certain studies indicate significant variations within samples and EN domains (Abdelhameed 2007, Abreu-Mendoza and Arias-Trejo 2015), but all of them converge towards the fact that children with ID lag behind their typically developing peers in EN acquisition (Baroody et al.2009). Nevertheless, children with IDs are able to overcome the various cognitive barriers, when they are provided with numerous opportunities to engage with EN concepts (Baroody 1999, Charitaki et al.2014). Consequently, it is of major importance to elucidate the EN structure in children with IDs.
From growth charts to growth status: how concepts of optimal growth and tempo influence the interpretation of growth measurements
Published in Annals of Human Biology, 2023
Babette S. Zemel
Growth charts for children with Down syndrome (DS) illustrate some of these issues. DS (Trisomy 21) is a genetic condition estimated to occur in one in 732 live births in the United States (Canfield et al. 2006). People with DS typically have short stature, microcephaly, a tendency to overweight status, and a spectrum of health complications and physical and cognitive disabilities. Infants with DS, on average, have lower birth weights than typical children (Anneren et al. 1993). Delayed oromotor development and poor muscle tone have the potential to limit nutrient intake and contribute to growth faltering in early life (Bull and Committee on Genetics 2011). Life expectancy of people with Down syndrome in the United States increased from 35 years in 1982 (Thase 1982) to 53 years in 2007, in part due to advances in care, such as correction of cardiac defects and reduced institutionalisation (Presson et al. 2013). During childhood and adolescence and into adulthood, the prevalence of obesity increases indicating that energy intake is more than adequate to meet needs for physical activity and growth.
Integrating familiar listeners and speech recognition technologies into augmentative and alternative communication intervention for adults with down syndrome: Descriptive exploration
Published in Assistive Technology, 2022
Christine Holyfield, Kathryn Drager
If an individual with Down syndrome is mostly intelligible to family members or other highly familiar listeners, as was the case in the current study and in previous research (Bunton et al., 2007; Wild et al., 2018), clinicians should consider how the knowledge of these familiar partners about the speech of the individual with Down syndrome could benefit intervention. The current study was exploratory and descriptive in nature and therefore does not offer clinical insights as to effective measures for utilizing familiar partners. However, clinicians could discuss with the adult with Down syndrome and their family about potentially useful strategies and include them in intervention as they are interested. For instance, an individual with Down syndrome could be taught the strategy of sending voice messages to family members repeating the speech that caused a conversation breakdowns for them to decode for a communication partner through speech or text, much like a Speech-to-Speech Relay service supported by the Federal Communications Commission (https://www.fcc.gov/consumers/guides/speech-speech-relay-service). Such an approach could serve as a valuable just-in-time (Schlosser et al., 2016) AAC support.
Related Knowledge Centers
- Child Development
- Chromosome 21
- Genetic Testing
- Intellectual Disability
- Quality of Life
- Pregnancy
- Genetic Disorder
- Genetics
- Prenatal Testing
- Abortion
- Quality of Life