Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach

Abukhaled, Yara; Hatab, Kenana; Awadhalla, Mohammad; Hamdan, Hamdan

doi:10.1007/s00415-023-11890-0

Cited by 4 publications

(2 citation statements)

References 151 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Children with Down syndrome exhibit a range of malformations in addition to cognitive impairments resulting from the presence of extra genetic material from chromosome 21 [18,19]. Although the phenotype varies, common characteristics that can lead experts to suspect Down syndrome includes reduced muscular tone (hypotonia), a brachycephalic head shape, a flat nasal bridge, epicanthal folds, the presence of Brushfield spots in the iris, a small mouth, small ears, excess skin at the back of the neck, upward-slanting palpebral fissures, a short fifth finger, a single transverse palmar crease, clinodactyly (abnormal curvature of the fifth finger), and wide spacing between the first and second toes, often accompanied by a deep groove between them [20,21].…”

Section: Introductionmentioning

confidence: 99%

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

Koul,

Ahmad,

Bhat

et al. 2023

Biomedicines

View full text Add to dashboard Cite

Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. Positive correlation exists between maternal age, particularly in advanced cases, and the global annual incidence is over 200,000 cases. Early interventions, including first and second-trimester screenings, have improved DS diagnosis and care. The manifestations of Down syndrome result from complex interactions between genetic factors linked to various health concerns. To explore recent advancements in Down syndrome research, we focus on the integration of artificial intelligence (AI) and machine learning (ML) technologies for improved diagnosis and management. Recent developments leverage AI and ML algorithms to detect subtle Down syndrome indicators across various data sources, including biological markers, facial traits, and medical images. These technologies offer potential enhancements in accuracy, particularly in cases complicated by cognitive impairments. Integration of AI and ML in Down syndrome diagnosis signifies a significant advancement in medical science. These tools hold promise for early detection, personalized treatment, and a deeper comprehension of the complex interplay between genetics and environmental factors. This review provides a comprehensive overview of neurodevelopmental and cognitive profiles, comorbidities, diagnosis, and management within the Down syndrome context. The utilization of AI and ML represents a transformative step toward enhancing early identification and tailored interventions for individuals with Down syndrome, ultimately improving their quality of life.

show abstract

Section: Introductionmentioning

confidence: 99%

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

Koul,

Ahmad,

Bhat

et al. 2023

Biomedicines

View full text Add to dashboard Cite

show abstract

“…In neonates, Down syndrome is the most common genetic cause of intellectual disability; it affects approximately 1 in every 700 children, and accounts for around 15-20% of the intellectually disabled population. 27 The condition was first described by an English doctor, John Langdon Down, 28 and was subsequently associated with the trisomy of chromosome 21 by Professor Jerome Lejeune, a geneticist in Paris. 29,30 Since then, other less frequently seen forms of the condition have been discovered.…”

mentioning

confidence: 99%

Early identification of birth defects can reduce secondary disabilities in newborn infants

Maheshwari,

Motta,

Lui

2024

Newborn

View full text Add to dashboard Cite

10.5005/newborn-2-4-iv Early identification of birth defects can reduce secondary disabilities in newborn infantsBirth defects and developmental disabilities are important issues of public health concern. 1 Birth defects are abnormalities of structure, function, or metabolism that are present at birth and can result in physical or mental disability, or death. [2][3][4][5] About 3% of children born in the United States (US) have a major birth defect; these account for about 20% of all infant deaths. 4 Disability is defined as a limitation of activity associated with long-term physical, sensory, and/or cognitive impairments. 1,6 Developmental disabilities can begin in utero or after birth because of injury, infection, or other factors. 5 About 17% of children in the US have a developmental disability, with about 2% having a disability severe enough to require life-long care and special services. 1 In 1992, the UN General Assembly proclaimed December 3 rd as the International Day of Persons with Disabilities. [7][8][9] This day is celebrated every year to promote awareness and understanding of the problems faced by people with disabilities all over the world. 9 The goal is to promote inclusion, dignity, and the rights of affected people all over the world, be it in political, social, economic, and cultural life. 10 We need to be "United in action to rescue and achieve the Sustainable Development Goals (SDGs) for, with, and by persons with disabilities." 11,12 Unfortunately, much more work is still needed to achieve the SDGs by the original timeline of 2030. 13 The Children's Health Act of 2000 recognized the relevance of these conditions with the creation of the National Center on Birth Defects and Developmental Disabilities (NCBDDD) at the Centers for Disease Control and Prevention (CDC). 14,15 It has recently launched a national campaign, "Learn the Signs. Act Early," to educate parents and healthcare providers about the importance of early, timely intervention. [16][17][18][19] We need a fundamental shift in our commitment, solidarity, and financing to reduce the public health burden emanating from these issues. 20 A political declaration at a recent SDG Summit 21 focused on the achievement of sustainable development and shared prosperity for all, by defining policies and actions that target the poorest and most vulnerable, including persons with disabilities. 22 The UN Disability Inclusion Strategy (UNSID; June 2019) 23 aims to raise the Organization's standards and performance on disability inclusion. 24,25 The idea was to provide sustainable and transformative progress in at-risk populations. 26 Our journal, the newborn aims to cover fetal/neonatal problems that begin during pregnancy or occur after birth during the first 1000 days after birth. In this 4 th issue of the second volume, we present 8 new articles (Figure 1). In neonates, Down syndrome is the most common genetic cause of intellectual disability; it affects approximately 1 in every 700 children, and accounts for around 15-20% of the intellectually ...

show abstract

A Comprehensive Review of the Relationship Between Oral Health and Down Syndrome

Botero,

Rodríguez-Medina,

Amaya-Sanchez

et al. 2024

Curr Oral Health Rep

View full text Add to dashboard Cite

Purpose of Review Individuals with Down syndrome (DS) may be more susceptible to oral disorders as a result of a combination of genetic factors, immunological disturbances, anatomical anomalies, and probable difficulties in maintaining adequate oral hygiene. Within this context, we provide a comprehensive review of the most important relationships between oral health and Down syndrome. Recent Findings Recent investigations suggest that a diminished diversity in the oral microbiome could emerge as a critical factor affecting oral health in individuals with DS. Plausible anatomical and metabolic peculiarities inherent to DS, including alterations in salivary characteristics, the presence of obstructive sleep apnea, elevated end glycation product levels, and hypothyroidism, may exert a significant influence on the composition and dynamics of the oral microbiome. A comprehensive analysis of the evidence implies a reduced occurrence of caries in individuals with DS. Furthermore, a recent meta-analysis indicates that gingivitis (OR 1.93; 95% CI 1.09–3.41) and periodontitis (OR 3.93; 95% CI 1.81–8.53) are more frequent in people with DS and strongly associated. Oral function in DS is also affected resulting in speech, breathing and eating problems. These findings underscore the necessity to implement targeted educational and awareness programs, along with specific intervention protocols, for the younger generations of individuals with DS, their families, and caregivers. Summary Although trisomy 21 itself does not determine a specific cause of oral diseases in DS, common oral health conditions such as gingivitis, periodontitis, and caries remain a matter of concern. The nexus between insufficient plaque control, distinctive oral characteristics, and reluctance to engage in treatment persists as noteworthy determinants. The necessity for oral health professionals to exercise patience and commitment when addressing oral care for individuals with Down syndrome is crucial.

show abstract

Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach

Cited by 4 publications

References 151 publications

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

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

Early identification of birth defects can reduce secondary disabilities in newborn infants

A Comprehensive Review of the Relationship Between Oral Health and Down Syndrome

Contact Info

Product

Resources

About