scholarly journals Association of Comorbid with Developmental Quotient in Down Syndrome Children

2021 ◽  
Vol 9 (B) ◽  
pp. 1484-1488
Author(s):  
I Gusti Ayu Trisna Windiani ◽  
Ni Made Dewi Aryati ◽  
I Gusti Agung Ngurah Sugitha Adnyana ◽  
Ni Luh Sukma Pratiwi Murti ◽  
Soetjiningsih Soetjiningsih
Keyword(s):  
Down Syndrome ◽  
Medical Record ◽  
Congenital Heart ◽  
Chromosome 21 ◽  
Endocrine Disorders ◽  
Chi Square ◽  
Developmental Quotient ◽  
Obstructive Sleep ◽  
Talipes Equinovarus ◽  
Chi Square Analysis

BACKGROUND: Down syndrome (DS) is the most common genetic disorder in children. Children with DS tend to have various comorbid due to developmental abnormalities of chromosome 21, such as congenital heart defects, hearing loss, otitis media, eye disorders, obstructive sleep apnea, thyroid hormone disorders, gastrointestinal atresia, hip joint dislocation, leukemia, and Hirschsprung’s disease. Moreover, they also show cognitive impairments in concentration, communication, memory, and the ability to carry out tasks. Caput Scale/Clinical Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT-CLAMS) is one of the developmental assessment instruments to screen for cognitive disorders. AIM: Hereby, we aimed to find the association of comorbid with developmental quotient in DS children. Data were obtained from medical record with sample age 0–18 years and suffering from DS. METHODS: This was observational analytic study with cross-sectional approach, conducted in DS children age 0–18 years who were treated in Sanglah Hospital in 2018. Characteristic data and comorbid were obtained from medical record, meanwhile, development status was assessed using Caput Scale/CAT-CLAMS. Chi-square was applied to determine the association between comorbidities and development quotient (DQ) in DS children. RESULTS: A total of 32 children with DS were treated in Sanglah Hospital during 2018 with median age was 2 years old and dominated by female patient (71.9%). Several comorbidities were found such as endocrine disorders in 27 children (84.3%), congenital heart disease (CHD) in 16 children (50%), and other comorbid including microcephaly, congenital cataract, palatoschizis, gastrointestinal defects, and congenital talipes equinovarus in 13 children (40.4%). The most common endocrine disorders was congenital hypothyroidism (81.25%), while the most common CHD was patent ductus arteriosus (25%). Bivariate Chi-square analysis showed significant association between comorbid and DQ (PR = 1.4 [95% CI 0.95–1.97], p = 0.03). CONCLUSION: We found an association between comorbidities and DQ in DS children.

Tonsillectomy and Adenoidectomy in the Pediatric Patient with Down Syndrome

2018 ◽  
Author(s):  
Ellen Y. Choi
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Pediatric Patient ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Preoperative Evaluation ◽  
Organ System ◽  
Atlantoaxial Instability ◽  
Obstructive Sleep ◽  
Physical Features

Down syndrome or Trisomy 21 is the most common chromosomal abnormality, affecting some 250,000 individuals, with life expectancy reaching into the fifth decade of life for some. It has characteristic physical features, with associated congenital conditions affecting almost every organ system. While all abnormalities must be taken into account during the preoperative evaluation, conditions of particular significance to the anesthesia provider include obstructive sleep apnea, congenital heart disease, and atlantoaxial instability. This chapter presents for discussion a case of a pediatric patient with Down syndrome undergoing adenotonsillectomy. Additional topics covered include attenuation of the risk of airway fire and management of post-tonsillectomy hemorrhage.

scholarly journals 1094 Depression Is Not Associated With The Presence Of Or The Severity Of Obstructive Sleep Apnea: Retrospective Study Of 841 Polysomnography Subjects

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A416-A416
Author(s):  
K Im ◽  
L Kim ◽  
R Immen
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Rating Scale ◽  
Numerical Rating Scale ◽  
Significant Proportion ◽  
Chi Square ◽  
Relative Paucity ◽  
Obstructive Sleep ◽  
Significant Difference ◽  
Chi Square Analysis

Abstract Introduction Both depression and obstructive sleep apnea (OSA) are very common medical conditions. Studies showed a co-occurrence of depression and OSA with a higher prevalence of one if the other is present. However, there is relative paucity of studies assessing the rate of depression based on the OSA severity. Methods Retrospective analysis of data collected from patients undergoing polysomnography (PSG) at an academic sleep disorders center was performed. A total of 841 subjects were included and stratified into four groups using AHI. A Chi-square analysis was applied to assess the association of varying levels of AHI and the presence of depression. Results Although a significant proportion of patients with AHI greater than 5 endorsed depression (60/165 in group with AHI 15 or greater and 115/278 in group with AHI between 5 and 15), this finding was also replicated in patients with AHI less than 5 (86/202 in AHI between 1 and 5 and 88/196 in those with AHI less than 1). As there was significant difference in rate of depression among women (54.1%) and men (26.1%) (p <0.0001), Chi-square analysis was performed for the rate of depression based on the level of AHI, adjusted for gender. In women the rate of depression from the most severe AHI to less severe AHI group were 0.48, 0.53, 0.60, and 0.53 respectively and in men it was 0.30, 0.27, 0.20, and 0.27 respectively, with no statistical difference between any groups. Conclusion Among patients who seek PSG assessment, depression appears to be more prevalent than the general public. Rate of depression is much higher among women than men in this group. However, the presence of OSA or severity of OSA does not have any correlation with the rate of depression in both women and men. These findings might be suggestive of the complexity of the association between depression and OSA. One limitation of this study is the dichotomous nature of depression (presence or absence of). The finding from this study warrants a future study utilizing a numerical rating scale of depression for severity measure to correlate it with the severity of OSA. Support NA.

scholarly journals D.03 Down syndrome: clinical and EEG correlates during development

2016 ◽  
Vol 43 (S2) ◽  
pp. S13-S13
Author(s):  
S Nauth ◽  
AK Bamaga ◽  
MA Cortez
Keyword(s):  
Down Syndrome ◽  
Cognitive Abilities ◽  
Cognitive Outcomes ◽  
First Year ◽  
Pharmacological Treatments ◽  
Chi Square ◽  
Significant Difference ◽  
Chi Square Analysis ◽  
First Year Of Life ◽  
Electroencephalogram Eeg

Background: Down syndrome (DS) is the primary genetic cause of mental retardation and seizures are present in an estimated 5-13% of cases. One-third of seizures in DS are infantile spasms (IS). Hypsarrythmia (HS) is the cardinal electroencephalogram (EEG) feature of IS and has been found to affect cognition; however, its effect on DS patients is inconclusively reported. This study assesses the correlation of HS with cognitive outcomes in DS using the largest sample size to date. Methods: Retrospective study of medical records of children with DS [0-18yrs] at SickKids Hospital in Toronto, from 1990-2013. Seizure history, EEG findings, comorbities, and pharmacological treatments were identified. Developmental outcomes were also assessed from physician comments on motor, verbal and cognitive abilities. The cognitive outcomes of DS patients with and without HS were compared. Results: 70 [male=40] patients with DS and seizures were included. Among 31 (44.2%) patients with DS and IS, 27 had HS. Chi-square analysis showed a significant difference [P=0.007] in prevalence of severe developmental delay in patients with IS and HS versus all other seizure types. Conclusions: The developmental outcome of patients with Down syndrome appears to worsen when IS and HS had occurred in the first year of life.

scholarly journals Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

2017 ◽  
Vol 8 (1) ◽  
pp. 105-111 ◽  
Author(s):  
Benjamin L. Rambo-Martin ◽  
Jennifer G. Mulle ◽  
David J. Cutler ◽  
Lora J. H. Bean ◽  
Tracie C. Rosser ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Congenital Heart Defects ◽  
Copy Number ◽  
Congenital Heart ◽  
Heart Defects ◽  
Copy Number Variants ◽  
Chromosome 21

scholarly journals The Relationship Between Medication Adherence, Rehospitalization and Mortality in Bandung, Indonesia

2020 ◽  
pp. 48
Author(s):  
Noviyah Noviyah ◽  
Ulfah Nurrahmani ◽  
Nurlaeci Nurlaeci ◽  
Hawani Sasmaya Prameswari
Keyword(s):  
Heart Failure ◽  
Medication Adherence ◽  
Medical Record ◽  
Medical Record Data ◽  
Chi Square ◽  
Heart Failure Clinic ◽  
Patients With Heart Failure ◽  
Record Data ◽  
Chi Square Analysis ◽  
The Relationship

Medication adherence in patients with heart failure is very important. Previous study, the low level of medication adherence in patients with heart failure can increase the risk of recurrence of the patient, thereby increasing the rehospitalization and mortality. This study was conducted to evaluate existing programs in heart failure clinic. The purpose of this study is to determine the relationship between the incidence of medication adherence with the incidence of rehospitalization and mortality in patients with heart failure. Retrospective cohort study conducted using medical record data from the Heart Failure Clinic in dr Hasan Sadikin Hospital Bandung between October 2018 to July 2020. This study involved 77 people with a diagnosis of CHF and had attended a minimum of 6 months of the heart failure clinic program at Dr Hasan Sadikin Hospital, Bandung. Descriptive statistics were used to describe demographic characteristics such as age, gender, and NYHA class. Chi-square analysis was used to analyze the relationship between medication adherence, the incidence of rehospitalization and mortality. Result, demographic data, there are 55 (71.4%) adults and 22 (28.6%) elderly, male 50 (64.9%) and female 27 (35.1%), NYHA I 32 people (41.6%), NYHA II 26 (33.8%), NYHA III 7 (9.1%), NYHA IV 12 (15.6%). Non-adherence 8 (10,4%), rehospitalizayion 20 (26%), and mortality 18 (23,4%). Based on the chi-square statistical analysis, there was a relationship with the incidence of rehospitalization (p <0.001) and there was a relationship with mortality (p <0.002). This study has research limitations, because the data obtained is only based on medical record data. Medication adherence was associated with rehospitalization and mortality. It is important to develop interventions to improve medication adherence. This study is the most recent study conducted at the Heart Failure Clinic Dr Hasan Sadikin Hospital Bandung, and can be used as an evaluation of the program that has been carried out.

BAC and PAC Contigs Covering 3.5 Mb of the Down Syndrome Congenital Heart Disease Region between D21S55 and MX1 on Chromosome 21

Genomics ◽  
1997 ◽  
Vol 41 (2) ◽  
pp. 218-226 ◽  
Author(s):  
René S. Hubert ◽  
Steve Mitchell ◽  
Xiao-Ning Chen ◽  
Karine Ekmekji ◽  
Christopher Gadomski ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosome 21 ◽  
Disease Region

Respiratory manifestations of Down syndrome

2016 ◽  
Vol 7 (2) ◽  
pp. 164-169
Author(s):  
Marija A Beljashova ◽  
Shamil’ A Gitinov ◽  
Dmitry Yu Ovsyannikov
Keyword(s):  
Down Syndrome ◽  
Respiratory Tract ◽  
Structural Changes ◽  
Respiratory Infections ◽  
Pathological Process ◽  
Current Data ◽  
Lung Damage ◽  
Chromosome 21 ◽  
Obstructive Sleep ◽  
Tract Infections

Down syndrome - the most common human congenital disease, the most common chromosomal abnormality (trisomy of chromosome 21). In addition to the phenotypic features of multiple anomalies on the part of the cardiovascular, central nervous and immune systems, gastrointestinal, musculoskeletal system, is very common in patients with Down syndrome are diseases of the respiratory tract. The article presents current data from the literature on the causes of recurrent respiratory infections, obstruction of the upper and lower respiratory tract infections, obstructive sleep apnea associated with phenotypic characteristics of children, predisposing to obstruction. The data on the consequences of such abnormalities of the respiratory tract as a tracheal bronchus. Detailed description of interstitial lung disease in Down syndrome that can develop as a primary pathological process or be the result of infectious lesions and aspiration. Computed tomography allows visualization of pulmonary disorders architectonic, perilobulyarnye shading, depletion of lung pattern at the level of segments and subpleural cysts, the diagnosis of which is of great importance due to the high risk of pneumothorax. We discuss the etiology of the structural changes in the lung, their relationship with pulmonary hypoplasia and congenital heart disease. It is emphasized that the assessment of biopsies morphologists in Down syndrome is complex, as there are multiple, overlapping lung damage. Powered by observation of the patient with Down syndrome and subpleural cysts in the lungs. Thus, patients with Down syndrome have a variety of respiratory symptoms, the possibility of these lesions should be considered in the management of patients.

scholarly journals COVID-19 and children with Down syndrome: is there any real reason to worry? Two case reports with severe course

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Ahmad Kantar ◽  
Angelo Mazza ◽  
Ezio Bonanomi ◽  
Marta Odoni ◽  
Manuela Seminara ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Case Reports ◽  
Chromosome 21 ◽  
Disease Course ◽  
Case Presentation ◽  
Biological Condition ◽  
Children With Down Syndrome ◽  
Antiviral Responses ◽  
Obstructive Sleep ◽  
Cardiovascular Anomalies

Abstract Background Down syndrome (DS) is characterized by a series of immune dysregulations, of which interferon hyperreactivity is important, as it is responsible for surging antiviral responses and the possible initiation of an amplified cytokine storm. This biological condition is attributed to immune regulators encoded in chromosome 21. Moreover, DS is also characterized by the coexistence of obesity and cardiovascular and respiratory anomalies, which are risk factors for coronavirus disease (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Case presentation A total of 55 children were admitted to the pediatric ward in Bergamo, between February and May 2020 for COVID-19. Here, we describe the cases of two children with DS and a confirmed COVID-19 diagnosis who had a severe course. In addition, both cases involved one or more comorbidities, including cardiovascular anomalies, obesity, and/or obstructive sleep apnea. Conclusions Our observations indicate that children with DS are at risk for severe COVID-19 disease course.

scholarly journals Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

eLife ◽  
2016 ◽  
Vol 5 ◽  
Author(s):  
Eva Lana-Elola ◽  
Sheona Watson-Scales ◽  
Amy Slender ◽  
Dorota Gibbins ◽  
Alexandrine Martineau ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Three Dimensional ◽  
Chromosome 21 ◽  
Mouse Strains ◽  
Chromosome Engineering ◽  
Systematic Analysis ◽  
Mapping Panel

Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most common cause of congenital heart defects (CHD), yet the genetic and mechanistic causes of these defects remain unknown. To identify dosage-sensitive genes that cause DS phenotypes, including CHD, we used chromosome engineering to generate a mapping panel of 7 mouse strains with partial trisomies of regions of mouse chromosome 16 orthologous to Hsa21. Using high-resolution episcopic microscopy and three-dimensional modeling we show that these strains accurately model DS CHD. Systematic analysis of the 7 strains identified a minimal critical region sufficient to cause CHD when present in 3 copies, and showed that it contained at least two dosage-sensitive loci. Furthermore, two of these new strains model a specific subtype of atrio-ventricular septal defects with exclusive ventricular shunting and demonstrate that, contrary to current hypotheses, these CHD are not due to failure in formation of the dorsal mesenchymal protrusion.

scholarly journals Obstetrical and Non-Obstetrical Factors toward Uterine Prolapse Occurrence in Ulin General Hospital Banjarmasin on Januari – December 2017

2019 ◽  
Vol 15 (1) ◽  
pp. 37
Author(s):  
Yohanes Adhitya Prakasa Sukoco Putra ◽  
Eko Suhartono ◽  
Pribakti Budinurdjaja
Keyword(s):  
General Hospital ◽  
Medical Record ◽  
Uterine Prolapse ◽  
Total Sample ◽  
Case Control ◽  
Dominant Factor ◽  
Chi Square ◽  
Control Approach ◽  
Gynecological Disease ◽  
Chi Square Analysis

Abstract: Uterine prolapse is a gynecological disease in women that emerge patients physically and psychologically. Uterine prolapse is defined as an uterus herniation inside or outside vagina as the result of the ligament and fascia failure that retain the uterus in its actual place. This research was to identify obstetrical and non-obstetrical factors in uterine prolapses occurrence in Ulin General Hospital Banjarmasin on period January until December 2017 using case control approach. The total sample was 80 medical record samples, which divided into 40 medical record samples of patient with uterine prolapse and 40 medical record samples of patient without the occurrence of uterine prolapse. The results using chi square analysis obtained non-obstetrical factors: age >60 years old (OR 6.67: 95%CI 2.44-18.21), BMI > 30 (OR 3.10: 95%CI 1.24-7.71), menopause (OR 21.00: 95%CI 6.11-72.18); and non-obstetrical factors: parity >4 / multiparity (OR 13.78: 95%CI 4.71-40.28), macrosomia (OR 7.15: 95%CI 2.65-19.34), vaginal delivery (OR 28.78: 95%CI 7.41-111.79). The results of logistic regression obtained non-obstetrical factors: age > 60th (Exp B 4.21 and sig. 0.004), menopause (Exp B 1.12 and sig. 0.001), and multiparity (Exp B 2.35 and sig. 0.016). The results of this analysis obtained that obstetrical and non-obstetrical factors were related to uterine prolapse occurrence, and the dominant factor was age > 60 years old, so it could be concluded that there was significant factor between obstetrical and non-obstetrical factors on uterine prolapse occurrence in Ulin General Hospital Banjarmasin. Keywords: uterine prolapse, obstetrical factor, non-obstetrical factor

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