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Prenatal Diagnosis and Screening for Aneuploidy
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Sarah Harris, Angie Jelin, Neeta Vora
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.
Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
There are three viable autosomal trisomies associated with recognized syndromes: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Embryos reported to have trisomy 21 have an increased risk of miscarriage. When detected prenatally, pregnancies with trisomy 21 have only about a 24% chance of developing to term. Individuals with Down syndrome have varying degrees of cognitive impairment and birth defects, including characteristically dysmorphic facial features and heart defects. Down syndrome affects approximately 1 in 800 individuals in the general population.
Day 5
Published in Bertha Alvarez Manninen, Dialogues on the Ethics of Abortion, 2022
Ok, what about another kind of case of later selective abortion? One in which the fetus is not terminal, but instead has some kind of a disability; one that is perfectly compatible with continued life, and not necessarily a life that is full of pain or sufferings. I am thinking of, for example, Down Syndrome. People with Down Syndrome can go on to lead perfectly wonderful lives. Yet the vast majority of Down Syndrome pregnancies are terminated, many later in pregnancy, if the disability is not discovered early. I read a story that Down Syndrome has been all but eradicated in Iceland because almost 100% of women who test positive for Down Syndrome end up aborting the fetus.23
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
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
To successfully participate in all aspects of life, adults with Down syndrome must be able to communicate effectively with more people than those who know them well (McNaughton et al., 2021). For individuals with Down syndrome who have limited speech intelligibility, this may require access to AAC intervention (Light et al., 2019). Previous research has documented benefits of AAC intervention for adults with Down syndrome (e.g., Babb et al., 2020; Holyfield et al., 2020), but there are opportunities to shift more communication demands from the individual with developmental disability to technological innovations (Holyfield & Caron, 2019) or other people. The current study encourages and informs future research regarding one such potential opportunity. The current study provided initial, descriptive information about a currently untested approach to AAC intervention for individuals with Down syndrome – decoding idiosyncratic speech into traditional speech by incorporating speech recognition technology or familiar partner insight. Future research is critical to determining whether this untested approach is a feasible or effective intervention option.
Differences in foot dimensions between children and adolescents with and without Down syndrome
Published in Disability and Rehabilitation, 2022
Nirmeen M. Hassan, Andrew K. Buldt, Nora Shields, Karl B. Landorf, Hylton B. Menz, Shannon E. Munteanu
Down syndrome is a common chromosomal abnormality that results in the trisomy of chromosome 21 [1]. It is associated with a number of orthopaedic anomalies and musculoskeletal disorders [2]. Approximately 20 to 27% of people with Down syndrome experience musculoskeletal disorders, and foot deformities make up 30% of all reported orthopaedic complaints [3]. Structural anomalies such as hallux valgus deformity and flat feet are the two most commonly reported in the literature [4–6]. However, other structural anomalies that may cause foot problems include digital deformities, bony deformities of the forefoot [4], hallucal cleft, isolated calcaneal valgus [4] and a plantarflexed first ray. Several of these structural anomalies are thought to occur secondary to higher body mass index [7], muscular hypotonia [8], ankle instability [9] as well as ligamentous laxity [10] – all of which are associated with Down syndrome. These structural anomalies may have a negative impact on gait, engaging in daily activities [11] and footwear-fitting.