Down syndrome—A narrative review with a focus on anatomical features

Abstract

Down syndrome (DS) is the most common aneuploidy of chromosome 21, characterized by the presence of an extra copy of that chromosome (trisomy 21). Children with DS present with an abnormal phenotype, which is attributed to a loss of genetic balance or an excess dose of chromosome 21 genes. In recent years, advances in prenatal screening and diagnostic tests have aided in the early diagnosis and appropriate management of fetuses with DS. A myriad of clinical symptoms resulting from cognitive, physical, and physiological impairments caused by aberrations in various systems of the body occur in DS. However, despite these impairments, which range from trivial to fatal manifestations, the survival rate of individuals with DS has increased dramatically from less than 50% during the mid-1990s to 95% in the early 2000s, with a median life expectancy of 60 years reported recently. The aim of this narrative review is to review and summarize the etiopathology, prenatal screening and diagnostic tests, prognosis, clinical manifestations in various body systems, and comorbidities associated with DS. Clin. Anat. 29:568-577, 2016. © 2015 Wiley Periodicals, Inc.

Deleterious Effects of Chronic Folate Deficiency in the Ts65Dn Mouse Model of Down Syndrome

“…It has been shown that mutations in 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene in humans led to developmental delay, brain atrophy, seizures, hypotonia and dementia. Importantly, all these abnormalities have also been reported in people with Down syndrome (DS; Arumugam et al, 2016). For instance, reducing the expression of folate transporters in mice leads to a significant failure in spatial learning (Höger et al, 2009).…”

Physical therapy in Down syndrome: systematic review and meta‐analysis

“…A wide range of co‐morbidities can be present in these people, affecting the respiratory, cardiovascular, sensory, gastrointestinal, haematological, immunological, endocrine, musculoskeletal, renal and genitourinary systems, as well as at the neurological level (Arumugam et al . ).…”

“…Despite the many co‐morbidities that may coexist in individuals with DS, the survival rate has increased substantially from less than 50% in the mid‐1990s to 95% in the early 2000s (Arumugam et al . ). These data are accompanied by an increase in longevity of this population (Lott & Dierssen ; Glasson et al .…”

“…; Holmes ; Arumugam et al . ; Glasson et al . ), which has a life expectancy of approximately 60 years (Arumugam et al .…”

“…Advances in detection and prenatal diagnosis have enabled early intervention and adequate health care (Arumugam et al . ; Glasson et al . ; Lott & Dierssen ), as well as changes in attitude in society towards the normalisation of the lives of people with DS (Arumugam et al .…”