The lowdown on Down syndrome

Perkins, Amanda

doi:10.1097/01.nme.0000511841.85763.77

Cited by 7 publications

(6 citation statements)

References 2 publications

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“…Patients with DS are frequently predisposed to a number of earlyonset complications, such that challenges and medical issues are more prevalent among children and adolescents than among adults with DS [6,7]. Visual impairment, hearing loss, hyperactivity/inattention, learning disability, and delayed speech and language are the most common disabilities among individuals with DS.…”

Section: Introductionmentioning

confidence: 99%

Age and gender-related differences in quality of life of Bangladeshi patients with Down Syndrome: A cross-sectional study

Islam

Sumit

Chowdhury

et al. 2022

Heliyon

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Currently available screening instruments for evaluation of individuals with intellectual disabilities do not capture all the complications associated with Down Syndrome (DS). Here, we examined age and gender-specific variability revolving around major challenges related to ophthalmologic and auditory health, social integration, daily life, and behavioral problems in 468 (age: 2-84 years) individuals with DS living in all eight divisions of Bangladesh. More than half of the children presented with significant difficulty in walking or other targeted movements compared with 37.9% of adolescents (p ¼ 0.03). Nearly 70% of children exhibited communication difficulties, particularly revolving around the understanding of speech, comprehending or learning tasks or new materials, and in expressing thoughts in words or behaviors (p ¼ 0.003-0.006). Uncontrolled urination was frequent and predominantly found among children (p ¼ 0.04). No significant differences were present in females vs. males except for concern about physical appearance (females: 58.5% vs. males: 47.5%; p ¼ 0.02). The severity of DS was associated with intellectual performance, communication difficulties, and self-sufficiency (i.e., uncontrolled micturition or bowel movements) but not with psychotic, ophthalmologic, auditory, or motor skillsrelated problems. Increased awareness of DS phenotypic profiles among professionals and caregivers can foster earlier detection and counselling and help formulate appropriate interventions to reduce long-term sequelae and enhance cognitive and behavioral developmental outcomes.

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Section: Introductionmentioning

confidence: 99%

Age and gender-related differences in quality of life of Bangladeshi patients with Down Syndrome: A cross-sectional study

Islam

Sumit

Chowdhury

et al. 2022

Heliyon

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“…Adult screening can be performed with blood or saliva samples, while prenatal diagnosis is more invasive. CVS takes tissue from the placenta, while amniocentesis samples take amniotic fluid ( Perkins, 2017 ). These prenatal tests have a 1 in 16 chance of detecting an affected pregnancy, and 1 in 200 procedures can lead to miscarriage ( Palomaki et al., 2011 ).…”

Section: Introductionmentioning

confidence: 99%

Investigating the feasibility and ethical implications of phenotypic screening using stem cell-derived tissue models to detect and manage disease

et al. 2022

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“…5 Other rare identified risk factors are heredity, affecting approximately 1% of all cases of DS. 6 Shalaby et al 7 reported other risk factors as consanguinity, residence (rural/urban) of the family, drugs/chemicals exposure, parental educational level, paternal habits, antenatal scanning, and number of family members.…”

Section: Introductionmentioning

confidence: 99%

“…9 Other comorbidities are leukemia, gastrointestinal diseases, visual/hearing impairments, dental issues, thyroid diseases, obstructed sleep apnea, epilepsy, and Alzheimer's diseases. 6 There is also an increased prevalence of otolaryngologic morbidities, periodontal diseases, obesity, 10 male infertility, 11 and behavioral and psychological problems. 12 Children with DS are more vulnerable to autoinflammatory disease as celiac, thyroiditis, and alopecia due to chronic immunological deregulation.…”

Section: Introductionmentioning

confidence: 99%

Clinical Profiles, Congenital Heart Disease, and Other Comorbidities Among Egyptian Children with Down Syndrome: A Tertiary Center Study

Amin

Abdel-Meguid

El-Refaie

et al. 2021

Journal of Child Science

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Introduction Down syndrome (DS) is the most common chromosomal disorder. It is accompanied by several comorbidities, which could lead to severe morbidity and mortality. Congenital heart disease (CHD) is one of the most commonly described condition. Objective This study aimed to determine clinical profiles, dysmorphic features, CHD, and DS associated comorbidities in a tertiary center (Cairo, Egypt). Patients and Methods This descriptive study included 290 patients diagnosed with DS, who presented to the Clinical Genetics clinic, Cairo University Children Hospitals, from February 2018 to December 2019. The patients' ages ranged from 2 to 4 years old. All patients were evaluated by full history, clinical examination, anthropometric measurements, and assessment of developmental milestones. Patients' diagnostic investigations including karyotype, thyroid function, and echocardiography were checked. Results The study population consisted of 290 children with DS of which 196 (67.6%) were male, 115 (40%) had CHD, the most prevalent atrial septal defect (ASD), patent ductus arteriosus (PDA), and ventricular septal defect (VSD) accounting for 10.7, 7.1, and 4.2%, respectively. Common dysmorphic features were upward slanting palpebral fissures (98.6%), hypertelorism (97.9%), and sandal gap (60.7%). Thyroid dysfunction was the second prevalent comorbidity, found in 35 patients (12.1%). Global developmental delay was reported affecting language (99%), motor (94.8%), and social (92.8%) domains. Conclusion The prevalence of CHD among children with DS was 40% with ASD, PDA, and VSD being the commonest. Thyroid dysfunction was the second most common comorbidity. The most prevalent dysmorphic features were upward slanting palpebral fissures, hypertelorism, and sandal gap. Developmental delay was very common, language being the most affected domain.

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The lowdown on Down syndrome

Abstract: Due to advances in healthcare and the older age of individuals with Down syndrome, it's becoming increasingly important for nurses to understand how to care for patients with this disorder.

Cited by 7 publications

References 2 publications

Age and gender-related differences in quality of life of Bangladeshi patients with Down Syndrome: A cross-sectional study

Age and gender-related differences in quality of life of Bangladeshi patients with Down Syndrome: A cross-sectional study

Investigating the feasibility and ethical implications of phenotypic screening using stem cell-derived tissue models to detect and manage disease

Clinical Profiles, Congenital Heart Disease, and Other Comorbidities Among Egyptian Children with Down Syndrome: A Tertiary Center Study

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