Prenatal and Postnatal Therapies for Down's Syndrome and Associated Developmental Anomalies and Degenerative Deficits: A Systematic Review of Guidelines and Trials

Abstract

Down's syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth are features of DS. Early treatment for the manifestations associated with DS in either prenatal or postnatal period may improve clinical outcomes. However, information available from professional bodies and to communities is very limited. We carried out a systematic review and attempted meta-analysis of clinical trials for developmental abnormalities and degenerative deficits in DS. Only 15 randomized controlled trials (RCTs) in 995 (24 days to 65 years old) individuals with DS showed some improvement in cognitive disorders, development and growth, and musculoskeletal problem. However, each trial used different parameters and methods to measure various outcomes. RCTs of prenatal interventions in fetus with DS are lacking. The efficacy and safety of specific interventions in DS are still largely unknown. Proper counseling of the potential treatment for pregnant mothers who wish to continue their pregnancy carrying fetus with DS, and to health care professionals who take care of them are not adequate nowadays.

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

“…Early diagnosis of dementia and AD in DS individuals is not possible due to pre-existing behavioral and intellectual disorders. Recently, a study by Dekker et al based on behavioral and psychological symptoms of dementia in Down syndrome (BPSD-DS) scale identified behavioral changes such as anxiety, agitation, depression, sleep disturbance, and apathy had significantly high scores in DS+AD (Down syndrome with AD) compared to DS+Q (Down syndrome with questionable dementia) and without dementia individual study groups [62,134]. Based on other behavioral studies, individuals with DS presented symptoms such as sleep disturbance, anxiety, depression, and apathy as alarming signs for developing AD [135][136][137].…”

“…An elevated fetal nuchal translucency measurement is indeed associated with an increased risk of Down syndrome. Increased fetal detection of Down syndrome offers important benefits despite the limited need for fetal or neonatal intervention in most cases [62]. Early detection enables comprehensive prenatal counseling, facilitating informed decisionmaking for expectant parents and access to specialized care and support.…”

“…Moreover, increased detection contributes to research and advancements in prenatal care and treatments, driving improved outcomes for individuals with Down syndrome [50,62,63]. By accumulating data and insights, it enables the development of innovative interventions, early interventions, and support strategies.…”

Empowering Lives: Navigating the Landscape of Down Syndrome Support in Saudi Arabia

“…In Saudi Arabia, the healthcare approach for DS encompasses various stages of care, each crucial for ensuring the well-being and development of individuals with this condition (AlSalloum et al, 2015;Alwhaibi et al, 2022). From prenatal diagnosis to long-term support, the healthcare system plays a vital role in managing DS (Hasina and Wang, 2022). Prenatal diagnosis and screening are essential in the early detection of DS, involving noninvasive tests like blood tests and ultrasounds during the first and second trimesters to assess the risk.…”

“…Prenatal diagnosis and screening are essential in the early detection of DS, involving noninvasive tests like blood tests and ultrasounds during the first and second trimesters to assess the risk. These may include measuring blood hormones, proteins, and an ultrasound for nuchal translucency, followed by the quadruple test (Hasina and Wang, 2022). High-risk pregnancies may require more definitive diagnostic tests such as amniocentesis or chorionic villus sampling (CVS) to analyze fetal chromosomes for chromosomal abnormalities characteristic of DS.…”