Higher Incidence Of Down Syndrome Research Articles

Scheimpflug-Based Tomographic Risk Factors for the Development of Acute Corneal Hydrops in Keratoconus.

The purpose of this study was to assess the risk factors that predispose patients with keratoconus to develop acute corneal hydrops (ACH), including both clinical and tomographic risk factors. We additionally describe tomographic changes of the cornea over time after ACH. We retrospectively reviewed patients with keratoconus who were followed at our institution from January 2015 to May 2023. Control eyes, defined as eyes with advanced keratoconus (stage IV Amsler-Krumeich classification on initial examination) were compared with eyes that developed ACH. Demographic, clinical, and tomographic factors were investigated. Visual acuity, keratometry, and corneal thickness were assessed at each follow-up visit to monitor progression over time. Twenty-three eyes of 19 patients developed ACH over the follow-up period. The incidence of known clinical associations including seasonal allergies, eye rubbing, snoring, asthma, and eczema was similar between the hydrops and control groups. There was a higher incidence of Down syndrome in the hydrops group ( P = 0.04). Eyes that developed hydrops had similar best corrected visual acuity on initial examination, but had steeper keratometry ( P = 0.003) and thinner corneas ( P < 0.001) than controls at baseline. After hydrops, progressive corneal flattening and reduced maximum keratometry occurred over time. However, final best corrected visual acuity was worse compared with initial examination before hydrops ( P = 0.03), as well as compared with control eyes ( P < 0.001). Risk factors of developing ACH include steep keratometry and thin corneas as well as Down syndrome. Although corneal flattening will occur after resolution of acute corneal edema, visual acuity worsened after ACH.

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study

Important insights into the early pathogenesis of Alzheimer's disease can be provided by studies of autosomal dominant Alzheimer's disease and Down syndrome. However, it is unclear whether the timing and spatial distribution of amyloid accumulation differs between people with autosomal dominant Alzheimer's disease and those with Down syndrome. We aimed to directly compare amyloid changes between these two groups of people. In this cross-sectional study, we included participants (aged ≥25 years) with Down syndrome and sibling controls who had MRI and amyloid PET scans in the first data release (January, 2020) of the Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) study. We also included carriers of autosomal dominant Alzheimer's disease genetic mutations and non-carrier familial controls who were within a similar age range to ABC-DS participants (25-73 years) and had MRI and amyloid PET scans at the time of a data freeze (December, 2020) of the Dominantly Inherited Alzheimer Network (DIAN) study. Controls from the two studies were combined into a single group. All DIAN study participants had genetic testing to determine PSEN1, PSEN2, or APP mutation status. APOE genotype was determined from blood samples. CSF samples were collected in a subset of ABC-DS and DIAN participants and the ratio of amyloid β42 (Aβ42) to Aβ40 (Aβ42/40) was measured to evaluate its Spearman's correlation with amyloid PET. Global PET amyloid burden was compared with regards to cognitive status, APOE ɛ4 status, sex, age, and estimated years to symptom onset. We further analysed amyloid PET deposition by autosomal dominant mutation type. We also assessed regional patterns of amyloid accumulation by estimated number of years to symptom onset. Within a subset of participants the relationship between amyloid PET and CSF Aβ42/40 was evaluated. 192 individuals with Down syndrome and 33 sibling controls from the ABC-DS study and 265 carriers of autosomal dominant Alzheimer's disease mutations and 169 non-carrier familial controls from the DIAN study were included in our analyses. PET amyloid centiloid and CSF Aβ42/40 were negatively correlated in carriers of autosomal dominant Alzheimer's disease mutations (n=216; r=-0·565; p<0·0001) and in people with Down syndrome (n=32; r=-0·801; p<0·0001). There was no difference in global PET amyloid burden between asymptomatic people with Down syndrome (mean 18·80 centiloids [SD 28·33]) versus asymptomatic mutation carriers (24·61 centiloids [30·27]; p=0·11) and between symptomatic people with Down syndrome (77·25 centiloids [41·76]) versus symptomatic mutation carriers (69·15 centiloids [51·10]; p=0·34). APOE ɛ4 status and sex had no effect on global amyloid PET deposition. Amyloid deposition was elevated significantly earlier in mutation carriers than in participants with Down syndrome (estimated years to symptom onset -23·0 vs -17·5; p=0·0002). PSEN1 mutations primarily drove this difference. Early amyloid accumulation occurred in striatal and cortical regions for both mutation carriers (n=265) and people with Down syndrome (n=128). Although mutation carriers had widespread amyloid accumulation in all cortical regions, the medial occipital regions were spared in people with Down syndrome. Despite minor differences, amyloid PET changes were similar between people with autosomal dominant Alzheimer's disease versus Down syndrome and strongly supported early amyloid dysregulation in individuals with Down syndrome. Individuals with Down syndrome aged at least 35 years might benefit from early intervention and warrant future inclusion in clinical trials, particularly given the relatively high incidence of Down syndrome. The National Institute on Aging, Riney and Brennan Funds, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the German Center for Neurodegenerative Diseases, and the Japan Agency for Medical Research and Development.

Caregiver Experiences of Caring for a Down Syndrome Child in Saudi Arabia

Background: Down Syndrome (DS) is a genetic disorder that causes various intellectual and physical developmental problems.Despite the high incidence of DS in Saudi Arabia (SA), there is a dearth of research on the experience of families—especially of the primary caregiver (mother)—with a child with DS in SA. Additionally, the effect on a caregiver’s life of caring for a child with DS in SA is not clear. Objectives:To present the findings of interpretive research which identified and described the qualitatively different ways Saudi Arabian (SA) women as primary caregivers’ understood the experience of caring for a child with Down syndrome (DS). Methods: We conduct a qualitative study as an innovative research designduring November 2011 to January 2012 on 18 mothers caring for children with DS in Riyadh, Jeddah and Dammam in SA. Methods were guided by accepted phenomenograpic approaches to data collection and analysis. Semi- structured interviews were undertaken with 18Saudi mothers caring for children with DS from centers in three regions of SA (Jeddah, Riyadh and Dammam. Results: Five categories of description were identified and revealed unique awareness of the group and provide insight into their personal, social and collective understanding (being excluded, being isolated, being disappointed, having difficulty accessing services and needing support). The findings contribute to knowledge needed to support mothers caring for children with DS in SA. The research is useful to inform strategies for supporting families of children with DS, women in similar contexts, and healthcare disability policy and implementation. Conclusions: Mothers caring for children with DS In SA have qualitatively different understanding of their experiences in caring for their children with DS. In this article Implication are discussed Disclosure: I certify that this paper does not incorporate without acknowledgement any material previously submitted in any Journals; and that to the best of my knowledge and belief it does not contain any material previously published or written by another person except where due reference is made in the Keywords: Down syndrome; Saudi Arabia; women; family; middle eastern culture; disability; carers; phenomenography; qualitative research

67 a case series of a higher incidence of down syndrome in patients with metopic craniosynostosis

Introduction The incidence of craniosynostosis ranges from 3.1 to 6.4 in 10 000 births. Specifically, metopic craniosynostosis affects 0.14 to 1.4 in 10 000 births. The current prevalence of Down syndrome is 1/700 births. While there is no conclusive association established between Down syndrome and metopic craniosynostosis, we have observed a higher incidence of patients with both conditions. Methods A retrospective analysis of all patients with metopic craniosynostosis from 2006–2016 was conducted, and those with trisomy 21 were reviewed. Information regarding birth, development, pertinent health conditions, skull imaging, and corrective procedures were collected. Results The charts of patients with metopic craniosynostosis reviewed spanned 10 years (2006–2010) and 3 patients with trisomy 21 were found. On average, our department performs 8 metopic craniosynostosis corrections per year. This produces an approximate incidence of 3/80 (3.75%). These patients exhibited a range of other medical conditions ranging from heart to nutritional problems. Figure 1 shows a CT head scan of the fused metopic suture of a patient. Patients underwent skull remodelling procedures. Conclusion Given our high incidence of Down syndrome within our metopic craniosynostosis patient population, we suspect there may be a mechanistic or genetic connexion between them. Specifically, the abnormal structural development of the brain due to trisomy 21 may influence the premature closure of the metopic suture.

Treatment results in children with myeloid leukemia of Down syndrome in Saudi Arabia: A multicenter SAPHOS leukemia group study

Despite the high incidence of Down syndrome (DS) in Arab countires, the incidence and outcomes of myeloid leukemia of DS (ML-DS) have not been studied. We evaluated 206 pediatric acute myeloid leukemia (AML) patients diagnosed between 2005 and 2012 and identified 31 (15%) ML-DS. The incidence of ML-DS was 48 per 100,000 compared to 0.6 per 100,000 for AML in non-DS children. Thus, patients with DS had 80-fold increased risk of ML-DS compared to AML in non-DS children. The median age at diagnosis was 1.8 years, male/female ratio was 1.2, majority (84%) of patients had FAB-M7 subtype, and the cytogenetic abnormalities were normal karyotype (constitutional trisomy 21) in 48%, additional trisomy in 23%, and other aberrations in 29%. Complete remission, cumulative incidences of relapse (CIR), toxic-death, and 5-year event-free survival (EFS) rates were 96.8%, 19.4%, 13.1%, and 67.7±8.4%; respectively. In the present study, multivariate analysis revealed favorable outcome (5-year EFS 86.7±8.8%) for patients with normal karyotype. The incidence and clinical characteristics of ML-DS in Saudi patients were comparable to other reports. However, there is a need to optimize risk stratification and treatment intensity to reduce CIR and toxic death rates to further improve outcomes of patients with ML-DS.

Prevalencia de síndrome de Down en CEHANI-ESE, San Juan de Pasto Colombia. 1998-2003

Un estudio colaborativo para América Latina sobre malformaciones congénitas (ECLAM) detectó una alta incidencia de síndrome de Down en Sur América, en Colombia no existen reportes. Con el objetivo de analizar la prevalencia de síndrome de Down entre 1998 y 2003 en el Centro Regional de Referencia (CEHANIESE) de San Juan de Pasto. Colombia, se llevó a cabo el presente estudio, utilizando la información recolectada mediante la base de datos de almacenamiento de historias clínicas ECLAM, que permite el registro de nacidos vivos con malformaciones atendidos en CEHANI, dichos datos fueron comparados contra el total de nacimientos del mismo sexho en la población. Como resultado se encontró que durante el tiempo de estudio, se registraron 49 casos de síndrome de Down, 5 casos por cada 10.000 nacidos vivos, una cifra más baja de la esperada. Con respecto a la edad, el rango entre 30 y 34 años presentó la misma frecuencia de ocurrencia del SD que en mujeres mayores de 35 años. En relación con el sexo, se identificó un mayor número de niñas afectadas en comparación con el número de niños y la tasa de nacimiento por sexo.

Alta prevalencia de síndrome de Down en el Hospital Regional Rancagua, Chile: Período 1997-2003

The Latin American Collaborative Study for Congenital Malformations (ECLAMC) has detected a higher incidence of Down syndrome in a zone of central Chile than in the rest of the country. To analyze the incidence rates of Down syndrome between 1997 and 2003 at the Regional Hospital of Rancagua, located 90 km south of Santiago, Chile. The information obtained by ECLAMC was used. This program, using a case control methodology, registers all newborns with congenital malformations and assigns, as a control, the next normal newborn of the same sex. During the study period, 106 newborns with Down syndrome were registered, with a mean rate of 29.61 per 10,000 live births, twice higher than expected. The rate variations along the years of study suggest a cyclic change, with a hemicycle of six years. In this hospital, mothers under 35 years of age, have twice the risk of having a child with Down syndrome, than in the rest of the country.