Endocrinal dysfunction in children with Down syndrome

Metwalley, Kotb Abbass; Farghaly, Hekma Saad

doi:10.6065/apem.2142236.118

Cited by 13 publications

(13 citation statements)

References 82 publications

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“…People with Down syndrome are more likely to have a number of different health issues, such as Dementia, autism spectrum disorders, hormonal, glandular issues, sensory impairments, sleep disruption, seizures, and cardiac abnormalities [114,115]. Celiac disease, hypothyroidism, leukemia, congenital heart abnormalities, and diabetes are additional illnesses with increased occurrence in this group [85,86,116,117]. Many people with Down syndrome are born with congenital heart defects, such as atrioventricular septal defect or ventricular septal defect.…”

Section: Associated Conditions and Disordersmentioning

confidence: 99%

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

Koul,

Ahmad,

Bhat

et al. 2023

Biomedicines

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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.

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Section: Associated Conditions and Disordersmentioning

confidence: 99%

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

Koul,

Ahmad,

Bhat

et al. 2023

Biomedicines

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“…Short stature and growth failure are observed in children with Down syndrome, Noonan syndrome and SRS. GH therapy has been used in children with Noonan syndrome and SRS to optimize adult height and body composition, even though growth failure is only partly thought to be related to dysfunctional GH secretion and/or resistance [76][77][78]. Other contributors to growth failure in children with these syndromes include pubertal dysfunction, hypothyroidism and cardiac abnormalities in Down syndrome and Noonan syndrome, and feeding difficulties in SRS.…”

Section: Down Syndrome Noonan Syndrome and Silver-russell Syndromementioning

confidence: 99%

Facilitating the transition from paediatric to adult care in endocrinology: a focus on growth disorders

Vakharia

Stanley

2022

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of reviewMany childhood-onset growth disorders (COGDs) require continued care into adulthood, and the time of transition between paediatric and adult providers carries a high risk for interruptions in medical care and consequent worsening of disease management. Recent findingsResearch into best practices for healthcare transition (HCT) describes three distinct stages. Stage 1, transition planning and preparation, begins in the paediatric setting during early adolescence and ensures that the patient has adequate medical knowledge, self-management skills, and readiness for transition. Stage 2, transfer to adult care, occurs with variable timing depending on transition readiness and is best facilitated by warm hand-offs and, when possible, joint visits with the paediatric and adult provider(s) and/ or involvement of a care coordinator. Stage 3, intake and integration into adult care, entails retaining the patient in the adult setting, ideally through the involvement of a multidisciplinary approach. SummaryThis review covers general principles for ensuring smooth transition of adolescents and young adults (AYA) with COGD, disease-specific medical considerations for paediatric and adult endocrinologists during the transition process, and general and disease-specific resources to assess transition readiness and facilitate transition.

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“…Children with DS have a higher likelihood of developing endocrine and metabolic disorders such as thyroid dysfunction, diabetes mellitus, short stature, vitamin D deficiency, and obesity than the general population [ 44 , 89 , 114 , 115 , 116 , 117 , 118 ]. Thyroid dysfunction is the most common endocrine abnormality in DS children: it is about 38 times more common in individuals with DS than in other people [ 119 , 120 ]. Thyroid hormones are involved in the regulation of carbo–lipid metabolism.…”

Section: Down Syndromementioning

confidence: 99%

Pediatric Population with Down Syndrome: Obesity and the Risk of Cardiovascular Disease and Their Assessment Using Omics Techniques—Review

Hetman

Barg

2022

Biomedicines

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People with Down syndrome (PWDS) are more at risk for developing obesity, oxidative stress disorders, metabolic disorders, and lipid and carbohydrate profile disorders than the general population. The presence of an additional copy of genes on chromosome 21 (i.e., the superoxide dismutase 1 gene (SOD1) and gene coding for the cystathionine β-synthase (CBS) enzyme) raises the risk for cardiovascular disease (CVD). As a result of disorders in metabolic processes and biochemical pathways, theoretically protective factors (low homocysteine level, high SOD1 level) do not fulfil their original functions. Overexpression of the CBS gene leads to the accumulation of homocysteine—a CVD risk factor. An excessive amount of protective SOD1, in the case of a lack of compensatory increase in the activity of catalase and peroxidase, leads to intensifying free radical processes. The occurrence of metabolic disorders and the amplified effect of oxidative stress carries higher risk of exposure of people with DS to CVD. At present, classic predispositions are known, but it is necessary to identify early risk factors in order to be able to employ CVD and obesity prophylaxis. Detailed determination of the metabolic and lipid profile may provide insight into the molecular mechanisms underlying CVD.

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Endocrinal dysfunction in children with Down syndrome

Cited by 13 publications

References 82 publications

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

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

Facilitating the transition from paediatric to adult care in endocrinology: a focus on growth disorders

Pediatric Population with Down Syndrome: Obesity and the Risk of Cardiovascular Disease and Their Assessment Using Omics Techniques—Review

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