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Penatalaksanaan Okupasi Terapi Pada Down Syndrome Menggunakan Behavior Modification Dan Sensori Integrasi Dalam Aktivitas Toileting (Case Study), Eka Talia Kameswari, Reza Nur Arsyi, Muhammad Luthfi, Hermito Gidion, Ayleen Alicia Kosasi, Abdul Aziz, Erna Faryza Mohd

Jurnal Vokasi Indonesia

Down syndrome is a condition of physical and mental developmental delays caused by chromosomal abnormalities. Children with Down syndrome generally show differences in motor development compared to other children, including delays in developing independence in daily activities. This study evaluates An. N, a 9-year and 9-month-old child with Down syndrome, who has issues with independence, particularly in toileting activities. To address this issue, an occupational therapy program was implemented using behavior modification and sensory integration approaches. The behavior modification techniques employed included positive reinforcement and prompting (physical, verbal, gestural, modeling), while the sensory integration techniques involved play. The results of …

Cytogenetic Findings And Maternal Age In Patients With Down Syndrome In A Pediatric Referral Hospital From Peru, Yesica Llimpe Mitma De Barrón, Maribel Susana Ccoyllo Álvarez, Milana Trubnykova, Rocío Margarita González Moreno

Revista de la Facultad de Medicina Humana

Introduction: Down syndrome is a congenital disorder caused by a total or partial trisomy of chromosome 21 and is considered the most common genetic cause of congenital malformations and intellectual disability. The objective of this study was to describe the cytogenetic alterations of patients with Down syndrome and their relationship with maternal age. Methods: Cross-sectional, descriptive-analytical study. 436 patients with Down syndrome admitted to the Instituto Nacional de Salud del Niño during the 2017-2019 period were included. The variables analyzed were: cytogenetic diagnosis and maternal age. Results: It was found that 99,3% (n=433) of patients presented some type of cytogenetic …

Effects Of Aerobic Exercise On Individulas With Down Syndrome Via Telerehabilitation, Zeel K. Patel Miss, Isha Gautami, Namrata Jain, Jacob Hinkel-Lipsker Professor

International Journal of Exercise Science: Conference Proceedings

BACKGROUND: Most of the children and adolescents with Down’s syndrome (DS) have poor aerobic capacity, physical fitness and demonstrate diminished cognitive abilities. Recent studies suggest that increased physical activity may prove to be important for maintaining components of cognition, including memory along with physical fitness.

In addition, there is interest among practitioners in determining the efficacy of virtual exercise classes, which can be more convenient for clients. However, it is unknown whether group exercise classes delivered over videoconferencing achieve desired outcomes—particularly in special populations such as those with DS.

PURPOSE: The purpose of this study is to evaluate the effect …

Predictor Of Perceived Stress Among Mothers Of Children With Down Syndrome, Aml A. Salama, Marwa M. Mohasseb, Zeinab A. Elkhateeb

Menoufia Medical Journal

Objective To assess stress level among mothers of children with Down syndrome (DS) and to determine its associated predictors. Background Having children with an intellectual disability can be a burden for their families. Children with DS are associated with many medical problems that need extra care, follow-up, and even hospitalizations, in addition to cognitive and behavioral problems, so most parents feel stressed and need support. There are very few studies focusing on stress level among parents of children with DS in Egypt. This study focuses on stress level among mothers of children with DS and its associated predictors. Patient and …

Prevalence Of Infectious Diseases Among 6078 Individuals With Down Syndrome In The United States, Veronica Fitzpatrick, Anne Rivelli, Sagar Chaudhari, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky, Brian Chicoine

Journal of Patient-Centered Research and Reviews

A recent disease prevalence study of the largest documented Down syndrome (DS) cohort in the United States strongly suggested significant disparity in general infectious disease conditions among individuals with DS versus those without DS. In this follow-up retrospective analysis, we explored these differences in greater detail by calculating prevalence of 52 infectious diseases, across 28 years of data among 6078 individuals with DS and 30,326 age- and sex-matched controls, abstracted from electronic medical records within a large Midwestern health system. We found that the DS cohort had higher prevalence of pneumonias (including aspiration, viral, bacterial, pneumococcal, and unspecified/atypical); otitis externa; …

Prevalence Of Mental Health Conditions Among 6078 Individuals With Down Syndrome In The United States, Anne Rivelli, Veronica Fitzpatrick, Sagar Chaudhari, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky, Brian Chicoine

Journal of Patient-Centered Research and Reviews

Findings from a recent study of the largest documented cohort of individuals with Down syndrome (DS) in the United States described prevalence of common disease conditions and strongly suggested significant disparity in mental health conditions among these individuals as compared with age- and sex-matched individuals without DS. The retrospective, descriptive study reported herein is a follow-up to document prevalence of 58 mental health conditions across 28 years of data from 6078 individuals with DS and 30,326 age- and sex-matched controls. Patient data were abstracted from electronic medical records within a large integrated health system. In general, individuals with DS had …

Prevalence Of Endocrine Disorders Among 6078 Individuals With Down Syndrome In The United States, Anne Rivelli, Veronica Fitzpatrick, Danielle Wales, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky, Brian Chicoine

Journal of Patient-Centered Research and Reviews

Findings from a recent study describing prevalence of common disease conditions in the largest documented cohort of individuals with Down syndrome (DS) in the United States strongly suggested significant disparity in endocrine disorders among these individuals when compared with age- and sex-matched individuals without DS. This retrospective, descriptive study is a follow-up report documenting prevalence of 21 endocrine disorder conditions, across 28 years of data, from 6078 individuals with DS and 30,326 age- and sex-matched controls, abstracted from electronic medical records within a large integrated health system. Overall, individuals with DS experienced higher prevalence of adrenal insufficiency and Addison’s disease; …

Prevalence Of Common Disease Conditions In A Large Cohort Of Individuals With Down Syndrome In The United States, Brian Chicoine, Anne Rivelli, Veronica Fitzpatrick, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky

Journal of Patient-Centered Research and Reviews

Purpose: Given the current life expectancy and number of individuals living with Down syndrome (DS), it is important to learn common occurrences of disease conditions across the developmental lifespan. This study analyzed data from a large cohort of individuals with DS in an effort to better understand these disease conditions, inform future screening practices, tailor medical care guidelines, and improve utilization of health care resources.

Methods: This retrospective, descriptive study incorporated up to 28 years of data, compiled from 6078 individuals with DS and 30,326 controls matched on age and sex. Data were abstracted from electronic medical records within a …

Studi Pendahuluan Faktor Risiko Sindrom Down (Studi Kasus Kota Dan Kabupaten Tangerang) Tahun 2019, Oscar Oleta Palit, Budi Hartono

Jurnal Nasional Kesehatan Lingkungan Global

Background. This study aims to find out the risk factors that cause Down syndrome that exist in the elderly around the City Industrial District and Tangerang District in 2019. The risk factors studied in this study include intrinsic and extrinsic characteristics. Methods. This study uses a case-control study with retrospective data. Case and control subjects were obtained at Special Needs Schools in Tangerang District. Case subjects were students who were classified as Down syndrome, while the control subjects were non-Down syndrome mentally disabled students. Results. Based on the bivariate test, the characteristics that influence the incidence of Down syndrome are …

Assessment Of Stakeholder Engagement In A Down Syndrome Research Study, Jeanhee Chung, Ashwini Sarathy, Yichuan Grace Hsieh, Greg Estey, Amy Torres, Vasiliki Patsiogiannis, Karen Donelan, Brian G. Skotko

Journal of Patient-Centered Research and Reviews

There is growing recognition of the importance of engaging patients early in the design of research studies. For studies involving patients with intellectual and cognitive disabilities, researchers may consider engaging with family caregivers, health professionals, community advocates, and/or subject matter experts to provide a more multifaceted, surrogate perspective. Evaluating the engagement of these stakeholder groups in research is nascent, and tools are limited. Research studies involving these individuals provide the opportunity to test new methods of measurement of stakeholder engagement in research. We conducted a 3-year research study implementing and evaluating Down Syndrome Clinic to You, an online platform for …

Family-Centeredness Of Services For Young Children With Down Syndrome: Anobservational Study From Turkey, Emi̇ne Bahar Bi̇ngöler Pekci̇ci̇, Ezgi̇ Özalp Akin, Funda Akpinar, Gamze Hayran, Cansu Keleş, Betül Yağbasan, Nazmi̇ye Kurşun, İlgi̇ Ertem

Turkish Journal of Medical Sciences

Background/aim: Physicians require information on the family centeredness of services for children with Down syndrome, one of the most frequently encountered disabilities in childhood. We aimed to determine the family-centeredness of services for young children with Down syndrome and using a bioecological theory framework we hypothesized that child, family and service-related factors would be associated with such services. Materials and methods: In a crosssectional design, children with Down syndrome seen at Ankara University Developmental Pediatrics Division (AUDPD) between February 2020 and June 2020 were included if they had received services in the community for at least 12 months. Mothers responded …

Mucocutaneous Findings In Down Syndrome, Menan S. A.. Alghobashy, Mohamed A. Gaber

Menoufia Medical Journal

Objective To study and evaluate the dermatological signs found in patients with Down syndrome (DS). Background The dermatological signs found in patients with DS have been less clear and infrequently studied and must be completely elucidated. Patients and methods This cross-sectional study included 50 patients with DS confirmed clinically. The sample comprised 28 boys and 22 girls. Their ages ranged between 1 and 40 years. We separated the sample into five age groups: 0–5 years, 14 patients; 6–10 years, 22 patients; 11–15 years, eight patients; and older than 16 years, 6 patients. Results Seborrheic dermatitis was the most frequent sign …

Challenges Of Pediatric Disease In Adulthood, Dennis J. Baumgardner, Brian Chicoine

Journal of Patient-Centered Research and Reviews

Some chronic diseases — such as the rare bone disease X-linked hypophosphatemia, the impetus for a study reported within Volume 7, Issue 2 of the Journal of Patient-Centered Research and Reviews — are diagnosed in childhood but become more symptomatic in adulthood. In this editorial, the challenges, pitfalls, and opportunities regarding the care of adults with childhood-onset chronic diseases are examined using Down syndrome, cystic fibrosis, congenital heart disease, and Hirschsprung disease as examples.

Down Syndrome, The Image Of God, And Personhood, Paris Webb

Dialogue & Nexus

People with Down syndrome help Christians understand what being made in the image of God truly means. After describing Down syndrome, we will examine the different views of the image of God and how these relate to people with Down syndrome. Another approach will be to define personhood in light of God’s image and relate it to Down syndrome. We will use the principles held by the L’Arche community as an exemplar in this discussion to demonstrate that those with Down syndrome encourage us to expand our understanding of the image of God. Consequently, Down’s persons allow us to apply …

Evaluation Of Early Corneal Topographic Changes In Children With Down Syndrome, Murat Aslankurt, Lokman Aslan, Adnan Aksoy, Muhammed Mustafa Kurt, Murat Özdemi̇r

Turkish Journal of Medical Sciences

To evaluate early corneal changes using a Scheimpflug imaging (SI) system (Pentacam) in a pediatric population with Down syndrome. Materials and methods: This study was carried out in a prospective and nonrandomized fashion. Twenty-seven children with Down syndrome and 30 healthy subjects were enrolled in the study. Corneal measurements were done using a Scheimpflug topography system. Central corneal thickness (CCT), minimum corneal thickness (CTmin), central corneal power (CP), difference of central corneal power (DCP) between 2 eyes, inferior superior steepening (I-S), and keratoconus indices were tested with a SI device. Results: Mean CCT and CTmin values were significantly lower in …

Down Syndrome With Os Odontoideum And Spinal Cord Injury: A Casereport, Li-Chen Tung, Yu-Lin Wang, Chen-Yu Chou, Hui-Chun Juan, I-Hsien Wu, Willy Chou

Rehabilitation Practice and Science

Down syndrome is a genetic disorder caused by trisomy on chromosome 21 that occurs in 1 of every 800 live births. Down syndrome can involve skeletal malformations that include patella or hip dislocation, genu valgus and atlanto-axial instability (AAI). Prompt recognition and treatment of the latter is important. This casereport describes an odontoid fracture due to AAI in a seven-year-old with Down syndrome.
Since October 2000, the child had involved in robust activities including floor tumbling and hand stands. Beginning in April 2001, the right extremities showed signs of weakness and there was an unsteady gait. Upon physical examination, AAI …

Correlation Between Down Syndrome And The Level Of Placental Alkaline Phosphatase In Amniotic Fluid, Canan Uçar, Sevi̇m Balci, Ergül Tunçbi̇lek, İbrahi̇m Ünsal

Turkish Journal of Medical Sciences

The aim of this study was to investigate the correlation between Down syndrome and the level of placental alkaline phosphatase (PLAP) in amniotic fluid. A total of 279 amniotic fluid samples taken between 14 and 24 gestational weeks were investigated in this study. Karyotype analysis was made in all samples. In 10 samples trisomy 21 was determined, in one sample trisomy 18, in two samples 47,XXY, in six samples various structural chromosomal anomalies and in 260 samples normal karyotype. PLAP was measured using a fluorometric heat inactivation assay. Mean PLAP multiples of normal gestational median (MOM) value in samples with …

A Case Of Mongolism With Some References To The Collection Of Data, Clarence P. Oliver

Journal of the Minnesota Academy of Science

No abstract provided.