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Introduction: The current study aimed to identify the sexual problems of students with Down’s syndrome in Saudi Arabia from the point of view of their parents and teachers in the light of a range of variables (student’s age, educational program, and family’s economic situation).Method: This descriptive comparative study was based on a sample of 120 participants consisting of 68 parents and 52 teachers caring for students with Down’s syndrome. The questionnaire of sexual problems for students with disabilities was applied and the data was statically analyzed using Analysis of Variance (ANOVA) and One- way ANOVA. The findings indicated that the most prevalent sexual problems experienced by students with Down’s syndrome according to their parents and teachers are a lack of knowledge of sexual development, difficulties in the child presenting themselves in front of others, and the inability to distinguish between normal and abnormal physical contact.Findings: The arithmetic one-way analysis of variance (ANOVA), mean, standard deviation, and t-test were used to calculate the findings that revealed no statistically significant differences between the perspectives of the parents and teachers of students with intellectual disability regarding the most prevalent sexual problems. Moreover, there was no statistically significant correlation between the student’s age and the sexual problems they encountered. Finally, the findings found statistically significant differences in the sexual problems encountered according to the of the program variables to which the students with Down’s syndrome belong and the family’s economic situationDiscussion: It is recommended that a group counseling program be devised for the parents of students with Down’s syndrome to advance their knowledge of sexual development and to obtain an understanding of how to deal with the variables resulting from such development. Develop training programs for families, teachers, psychologists, and social workers working in special needs care on how to identify the sexual problems experienced by intellectually disabled students. Raise parents’ awareness of the importance of communication and dialogue with teachers to identify the most important sexual problems their children face and collaborate to resolve them through training courses.

Perforating dermatoses are a heterogeneous group of disorders characterized by transepidermal elimination of materials from dermal connective tissue. It is classified into four primary dermatoses – Kyrle’s disease, perforating folliculitis, reactive perforating collagenosis (RPC), and elastosis perforans serpiginosa. It is known to be associated with various acquired and inherited systemic disorders. Here, we report a rare case of RPC in a 4-year-old Indian child with Down’s syndrome.

Background: Down’s syndrome is an autosomal chromosomal disorder in humans and individuals with the condition are usually at a risk of various ocular conditions ranging from mild to moderate symptoms compared to those without Down’s syndrome. The purpose of this study was to evaluate the refractive status of children with Down’s syndrome between 5-18 years. Materials and methods: This cross sectional study assessed the refractive status of 50 children with Down’s syndrome from selected special need schools in Benin City, Edo State, Nigeria. The visual acuity assessed with the use of Lea symbol chart and non-cyclopegic refraction was performed with the streak retinoscope. Hyperopia, Myopia, Hyperopic astigmatism and Myopic astigmatism of 0.25D and above respectively were considered as significant refractive error. Results: A total of 50 children with Down’s syndrome were evaluated; 25 (50%) male and 25(50%) females with a mean age of 12.48 ± 3.028 years. Majority of the participants 45 (90%) had refractive error, with hyperopia being the most prevalent refractive error occurring in 40% (20) of the participants, followed by hyperopic astigmatism 30% (15), then myopia 12%(6) and lastly myopic astigmatism 8%(4) of the total participants. There was no significant relationship between gender and the different types of refractive errors. Conclusion: Hyperopia was the most common type of refractive error observed in this study. It is necessary that urgent and early eye care services are provided for children with Down’s syndrome in the hope of improving their quality of life.

[This corrects the article DOI: 10.1371/journal.pone.0298643.].

OBJECTIVE: This study aims to explore perspectives on managing patients with Down's syndrome among orthodontists in Saudi Arabia using a vignette study and COM-B model. METHODS: This was a cross-sectional study for orthodontists working in Saudi Arabia. Participants were asked about their demographic data. Vignette (clinical scenarios) and COM-B model (C: capability, O: opportunity, M: motivation, and B: behavior) were used to assess orthodontists' perspectives regarding the management of patients with Down's syndrome. A model of Alpha (Cronbach) was used to study the properties of measurement scales. A Pearson's correlation coefficient was used to correlate variables represented by means. An independent t -test and one-way ANOVA, with least significant difference (LSD) as a post hoc test, were used to compare two group means and more than two groups, respectively. RESULTS: Most participants (n = 70, 85.4%) reported that they had no training/exposure to dealing with Down's syndrome patients during their orthodontic clinical training. Participants reported an average of 3.82 (SD = 1.1) when treating moderate Down's syndrome and 2.48 (SD = 1.4) when treating severe Down's syndrome with mild occlusion discrepancies. Participants also showed that their behavior and attitude are significantly related to their capability, opportunity, and motivation regarding the management of patients with Down's syndrome. The average reported agreement ranges from 2.46 (SD = 1) for the hypoplasia of the mandible to 4.38 (SD = 0.8) for the congenitally missing teeth. CONCLUSION: This study found that orthodontists in Saudi Arabia showed low confidence levels to manage Down's syndrome patients with moderate and severe challenging behavior. Despite this, the likelihood of increasing their confidence levels and attitude regarding the management of patients with Down's syndrome increased by increasing their capability, opportunity, motivation, and knowledge in this field. [ABSTRACT FROM AUTHOR]

OBJECTIVE: This study aims to explore perspectives on managing patients with Down’s syndrome among orthodontists in Saudi Arabia using a vignette study and COM-B model. METHODS: This was a cross-sectional study for orthodontists working in Saudi Arabia. Participants were asked about their demographic data. Vignette (clinical scenarios) and COM-B model (C: capability, O: opportunity, M: motivation, and B: behavior) were used to assess orthodontists’ perspectives regarding the management of patients with Down’s syndrome. A model of Alpha (Cronbach) was used to study the properties of measurement scales. A Pearson’s correlation coefficient was used to correlate variables represented by means. An independent t-test and one-way ANOVA, with least significant difference (LSD) as a post hoc test, were used to compare two group means and more than two groups, respectively. RESULTS: Most participants (n = 70, 85.4%) reported that they had no training/exposure to dealing with Down’s syndrome patients during their orthodontic clinical training. Participants reported an average of 3.82 (SD = 1.1) when treating moderate Down’s syndrome and 2.48 (SD = 1.4) when treating severe Down’s syndrome with mild occlusion discrepancies. Participants also showed that their behavior and attitude are significantly related to their capability, opportunity, and motivation regarding the management of patients with Down’s syndrome. The average reported agreement ranges from 2.46 (SD = 1) for the hypoplasia of the mandible to 4.38 (SD = 0.8) for the congenitally missing teeth. CONCLUSION: This study found that orthodontists in Saudi Arabia showed low confidence levels to manage Down’s syndrome patients with moderate and severe challenging behavior. Despite this, the likelihood of increasing their confidence levels and attitude regarding the management of patients with Down’s syndrome increased by increasing their capability, opportunity, motivation, and knowledge in this field.

Down Syndrome (DS) is a common chromosomal disorder that is associated with multiple anomalies in different organ systems. Cardiac anomalies are frequently observed in individuals with DS, and as patients with Congenital Heart Disease (CHD) are at an increased risk of developing complications related to anaesthesia during the perioperative and postoperative periods, it is crucial to pay attention to the anaesthetic management of DS patients undergoing corrective surgery for cardiac anomalies. Complete Atrioventricular Septal Defects (CAVSD) are the most prevalent cardiac defects in DS patients, followed by isolated ventricular septal defects, atrial septal defects, patent ductus arteriosus, and tetralogy of Fallot. This case report focuses on the anaesthetic management of a one-year-old female with DS who was diagnosed with a combination of Atrioventricular Septal Defects (AVSDs) and patent ductus arteriosus. Due to the concurrent diagnosis of hypothyroidism, the case required a thorough preanaesthetic examination and meticulous attention to perioperative anaesthetic management, considering factors such as airway difficulty, cervical spine instability, ligament laxity, and susceptibility to infections. The patient underwent cardiac surgery following a standard anaesthetic protocol, and the procedure was well tolerated. After the surgery, she was transferred to the Intensive Care Unit (ICU). The postoperative period was uneventful, and the patient was discharged on the eighth postoperative day.

Down syndrome (DS) is a chromosomal condition that is affecting an increasing number of infants born in Saudi Arabia. This study investigates the needs of families with children with DS in Saudi Arabia from mothers' perspectives and in a cultural and religious context. An exploratory qualitative research design was used, and semi-structured interviews were conducted with 14 mothers of children with DS. Interview data were thematically analyzed. The most important need was found to be financial or tangible support. An increase in benefits or monthly financial allowances and social security insurance would address these concerns. Societal support is also needed; mothers want DS to be perceived differently and require more support, including better rehabilitation and education services. Informational support is needed to improve the conditions of children with DS. Recommendations for improving the quality of life of children with DS are discussed.

Summary: A 3-year old girl with clinical features of Down's syndrome presented with persistent vomiting of undigested food and recurrent cough. Although her karyotype was not carried out, radiographs of the pelvis and hands revealed characteristic features of Down's syndrome. An investi gative barium swallow to diagnose the cause of the vomiting showed achalasia which is a rare association with Down's syndrome.

Introduction: Development of Alzheimer's disease (AD) pathology in Down's syndrome (DS) occurs within a compressed timeline compared to sporadic or other genetic forms of AD., Methods: Plasma glial fibrillary acidic protein (GFAP) and plasma pTau-217 levels were compared by AD pathophysiology (amyloid (A+) and tau (T+) positron emission tomography [PET]) in persons with DS (N = 348) and sibling controls (N = 42). Plasma GFAP, plasma pTau-217, amyloid-PET, and tau-PET levels were compared with regard to estimated years to onset of clinical symptoms (52.5 years old). We evaluated if plasma GFAP mediated the relationship between amyloid PET and plasma pTau-217 or tau PET., Results: Plasma GFAP, a measure of astrogliosis, was elevated in A+/T- and A+/T+ individuals with DS. Plasma pTau-217 was elevated in A+/T+ individuals with DS. GFAP partially mediated the relationship between amyloid-PET and tau-PET (15.3%) and amyloid-PET and plasma pTau-217 (42.1%)., Discussion: Astrogliosis is a key component in the advancement of preclinical AD pathophysiology in DS., Highlights: Amyloid may be a necessary precursor for stimulating astrocytes. Astrogliosis may play a key role in modifications to tau phosphorylation. Targeting neuroinflammation may only aid amyloid positive individuals. Alzheimer's disease timecourse is compressed in individuals with Down's syndrome., (© 2024 The Author(s). Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)

Background: People with Down's syndrome (DS) are at high risk of developing Alzheimer dementia (DS-AD) due to a triplication of the amyloid precursor protein gene. While several tools to diagnose and screen for DS-AD, such as the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID), are available in English, validated German versions of such instruments are scarce., Methods: A German version of the DSQIID questionnaire (DSQIID-G) was completed by caregivers before attending our specialist outpatient department for DS-AD. All participants were assessed blind to DSQIID-G scoring using clinical and neuropsychological examinations, including the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS). ICD-10 and amyloid/tau/neurodegeneration (A/T/N) criteria were applied to detect and categorise cognitive decline., Results: Of 86 participants, 43 (50%) showed evidence of cognitive decline. A definite diagnosis of DS-AD was reached in 17 (19.8%) and mild cognitive impairment in seven (8.3%) participants. Secondary causes of cognitive decline were determined among 13 (15.1%) participants, and in six (7%) cases, the diagnosis remained unclassifiable due to co-morbidities. Compared with cognitively stable individuals, participants with cognitive decline (n = 43) displayed higher DSQIID-G total scores [median (range): 3 (0-21) vs. 19 (0-48), P < 0.001]. A total score of >7 provided a sensitivity of 0.94 against a specificity of 0.76, to discriminate DS-AD and participants without cognitive decline according to ROC analysis. The convergent validity against the CAMDEX-DS interview score was good (r = 0.74), and split-half reliability (r = 0.96), internal consistency (Cronbach's α r = 0.96), test-retest reliability (r = 0.88) (n = 25) and interrater reliability (r = 0.81) (n = 31) were excellent., Conclusions: The DSQIID-G showed excellent psychometric properties, including concurrent and internal validity and reliability. The cut-off value for screening was lower than in the original English validation study. For a screening instrument like DSQIID-G, a lower cut-off is preferable to increase case detection., (© 2024 The Authors. Journal of Intellectual Disability Research published by John Wiley & Sons and MENCAP.)

Extramedullary plasmacytoma is a rare localized plasma cell neoplasm typically found in soft tissues outside the bone marrow. Predominantly occurring in the head and neck region, particularly in the sinonasal and nasopharyngeal areas, it presents a diagnostic challenge due to its uncommon nature. Herein, we report a 38-year-old female patient with Down’s syndrome with a 2-year complaint of intermittent dysphonia, hoarseness, and progressive respiratory distress, including dyspnea, fatigue, and biphasic stridor. Examination via flexible laryngoscopy revealed a white lesion, prompting direct microscopic laryngeal surgery to excise a 1x1 cm mass. Histological findings confirmed the diagnosis as solitary extramedullary plasmacytoma. Notably, this represented the first documented case of laryngeal solitary extramedullary plasmacytoma in a patient with Down’s syndrome. This case underscores the importance of considering tumor development in the larynx among individuals with Down’s syndrome, highlighting the necessity for tailored management strategies to address such occurrences effectively. Increasing awareness of this association can aid in early detection and appropriate treatment of tumors in this population.

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Rationale: Despite the potential risks, assisted reproductive technology has provided hope and opportunities for individuals and couples struggling with infertility to conceive and have children. This study presents a case report that describes an occurrence where a pregnancy achieved through in vitro fertilization (IVF) and embryo transfer had to be ended because of the presence of trisomy 21 syndrome., Patient Concerns: Two 26-year-old women who were diagnosed with primary infertility due to polycystic ovary syndrome manifested with overweight and hirsutism., Diagnosis: These 2 cases were regarded as a diagnosis of Down syndrome, which resulted in the decision to legally terminate the pregnancy when the mother was, in her 12th week and 4 days of gestation. Upon examining the makeup of the cells in the chorionic villi it was discovered that all cells had a chromosomal composition of 47, XX., Interventions: In these case reports, 2 26-year-old woman with polycystic ovary syndrome underwent assisted reproductive technology and IVF to conceive. The first IVF transfer was unsuccessful, but the second attempt resulted in a successful transfer in both cases. However, a positive screening for Down syndrome led to a legal abortion at 12 + 4 weeks gestation., Outcomes: Genetic counseling revealed no family history of genetic diseases, and the couple opted for IVF without preimplantation genetic testing. During the trimester of their pregnancies the expectant mothers were initially screened at 12 + 4 weeks after conception. Nuchal translucency examination showed thickening of the fluid at the back of the fetal neck. Moreover, there was an increase in the levels of pregnancy related plasma protein and β human chorionic gonadotropin., Lessons: These 2 cases underscore the significance of genetic counseling and prenatal screening for couples who are undergoing assisted reproductive technologies, with the purpose of detecting and effectively addressing any possible genetic abnormalities that may arise in their progeny., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2025 the Author(s). Published by Wolters Kluwer Health, Inc.)

Abstract Background Down’s syndrome is the most common chromosomal abnormality in humans. It has been associated with central nervous system tumors such as primary acute lymphoblastic leukemia and germinomas, but desmoplastic infantile astrocytoma has not yet been reported with Down’s syndrome. Desmoplastic infantile astrocytoma is a rare intracranial tumor that mostly occurs in the first 2 years of life. It usually presents as a large, aggressive tumor with both solid and cystic components. Genetically, it has been linked to the BRAF V600E mutation. Despite the rapid growth pattern, it usually has a favorable prognosis after neurosurgical excision. The presence of this extremely rare, genetically linked tumor, and its combination with Down’s syndrome, the most common human genetic defect, makes this a very novel clinical presentation. It also raises a very research-worthy question of an undiscovered link between these two genetic disorders. Case presentation In this case, we report a 1-year-old Pakistani origin male child with Down’s syndrome, who presented with progressive macrocephaly and developmental regression over the last 2 months. He was unable to sit by himself, and had lost his handgrip bilaterally. Down’s Syndrome was diagnosed soon after birth, based on typical facial features and presence of palmar crease, and later confirmed karyotypically for Trisomy 21. Upon presentation, initial blood tests did not show any abnormality. Magnetic resonance imaging of the brain was done, and showed a mixed intensity cystic mass with solid dural component posteriorly in the right parieto temporo occipital region. Craniotomy was performed, and about 85% of the tumor mass was excised. Histological examination and immunochemistry confirmed the suspected radiological diagnosis of desmoplastic infantile astrocytoma. After surgical excision, our patient gradually reacquired his previously regressed developmental milestones. Unfortunately, the remaining mass, which could not be excised due to its attachment to the highly vascular dura mater, showed regrowth on repeat brain magnetic resonance imaging. As his parents did not consent to further surgery, chemotherapy was offered as the next treatment option to prevent tumor regrowth. Conclusions This case report highlights the need for more case data and research to understand desmoplastic infantile astrocytoma, and their genetic correlation with Down’s syndrome. From a clinical standpoint, since desmoplastic infantile astrocytoma has a good postresection prognosis in a majority of early-diagnosed clinical cases, pediatricians, radiologists, and pathologists should consider desmoplastic infantile astrocytoma in their initial differential diagnosis in Down’s syndrome patients with macrocephaly and developmental regression during the first 2 years of life.

Objective To explore the association between screening for Down's syndrome and adverse pregnancy outcomes. Methods Retrospective cohort study was conducted in Beijing Chaoyang Hospital covering pregnant 7 682 pregnant women from Mar 31, 2014 to Apr 29, 2021 in a continuum period. Results The prevalence of high screening risk was 6.40% (492 cases) and the incidence of adverse pregnancy outcome was 1.30%(100 cases). The incidence of adverse outcome (4.27%) in high risk group was significantly higher than that in low risk group (1.10%). After adjusting for diabetes, family history of hereditary diseases, smoking and drinking alcohol, the incidence odds of adverse outcomes for high screening risk subjects was 4.022 times (95% CI:2.405-6.442) as that for low risk. The high Down's syndrome risk score meant high incidence of adverse outcomes(P＜0.001). The incidences of malformations, chromosome abnormalities and stillbirth for high screening risk subjects were higher than those for low risk. The incidence odds of adverse outcomes increased to 1.019 times with the increase of 1 ng/mL for AFP and 2.258 times with the increase of 1 for AFP MOM. The incidence odds of adverse outcomes declined to half with the increase of 1 ng/mL for uE3 or uE3 MOM. Conclusions Down's syndrome screening high risk is indicators for organ malformations, limb deformity, chromosome abnormalities and still birth. High level of AFP and low level of uE3 may increase the occurrence of adverse pregnancy outcomes.

This article presents a description of our own case of ultrasound prenatal diagnostics of complex combined heart disease (complete atrioventricular communication in combination with tetralogy of Fallot) at 19–20 weeks of gestation with ultrasound markers of Down's syndrome in fetus. Pregnancy termination was performed at 21 weeks. Prenatal diagnosis was fully confirmed at the fetus autopsy. This publication discusses the frequency, mechanism of occurrence of such a combination of congenital heart defects, prenatal management, methods, timing and efficiency of surgical correction after birth. Complete atrioventricular communication occurs in approximately 1.7–2% patients with tetralogy of Fallot, and tetralogy of Fallot occurs in 5–10% of patients with atrioventricular communication, most often in patients with Down's syndrome. It is believed that tetralogy of Fallot and a complete defect of the atrioventricular septum develop as a result of different mechanisms, but their joint occurrence is recognized as an association. The prevalence of such a combination in Down syndrome indicates the general foundations of its development. Sonographic diagnosis of atrioventricular communication and tetralogy of Fallot is usually not difficult for prenatal screening. Main diagnostic criteria for complete atrioventricular communication at routine ultrasound screening and targeted fetal echocardiography are an abnormal 4-chamber image of the heart in the form of a common atrioventricular junction and a common five-leafed atrioventricular valve. Typical prenatal sonographic signs of the tetralogy of Fallot are a high defect of the interventricular septum, expansion of the aortic root, displacement of the aorta forward and to the right, narrowing of the pulmonary artery at the level of the valve ring from minor to complete atresia, it is also possible reduction the size of the right ventricle and increasing the size of the left ventricle. The combination of atrioventricular communication with the tetralogy of Fallot refers to severe congenital heart defects requiring surgical correction.

Introduction Down’s syndrome often requires specialized rehabilitation methods in order to effectively improve cognitive and motor functioning. The growing interest in technologies to support rehabilitation is opening up new and promising perspectives for improving the quality of life of people diagnosed with this syndrome. One of these technologies is the Computer Assisted Rehabilitation Environment (CAREN) system from Motek. Objectives The aim of the planned research project is to explore the potential of using the CAREN system in the rehabilitation of people with Down’s syndrome. Methods The study included 10 participants with Down’s syndrome (men and women aged 18 to 50 years) without the presence of organic musculoskeletal disease or other somatic causes impairing motor performance. Before the training test, the participants were assessed by two psychological tests: 1) ACE III - Addenbrooke’s Cognitive Examination III Scale (ACE-III), which assesses attention and orientation, memory, verbal fluency, language and visuospatial functions and 2) the TONI 4 Non-Verbal Intelligence Test, which is a test used to measure general intelligence. The tests were carried out using the MOTEK CAREN device, which consists of a treadmill for motor training and a virtual reality screen on which different scenes are displayed for the participant to see during the test. Integrated motion capture technology was used to assess movement capabilities of the patients.. The screen displayed different types of applications in the form of virtual reality, in which the participant had to cope with various tasks accommodating different psychomotor skills, for example:crossing a virtual bridge, walking through a forest. The test took about 45 minutes per person. Two training sessions were conducted for each of the 10 patients with a one-month interval between them. Results The Motek Caren System has proven to be a promising rehabilitation method for people with Down’s syndrome, compared to previous experience with different rehabilitation methods and existing research in the field. Conclusions Results emphasize the necessity for further investigations and future research should involve more participants. The project has the potential to integrate modern technology with traditional forms of therapy to improve the quality of life and functioning of people affected by this syndrome. Disclosure of Interest None Declared

Objective: This study aims to establish the frequency of Down's syndrome which will enhance the knowledge of our local population as well to understand our genotypic patterns and variations., Methods: Electronic Medical Records of inborn babies at the Department of Neonatology, Sheikh Saeed Memorial Campus of The Indus Hospital Karachi during the study period from 1 st January 2021 to 31 st December 2022 were retrieved. Chromosomal karyotyping was done for all babies with suspicious clinical features identified on routine new born examination by consultant neonatologists, trainee doctors and experienced nurses., Result: There was a total of 7,433 live births during the study period, out of which 14 babies had features suggestive of DS. repetition of sentence. What about karyotyping result??, Conclusion: The frequency of DS in our study is slightly higher than the incidence reported within South East Asia. It is high time to perform effective antenatal screening and efficient prenatal diagnostic services for early detection of chromosomal numerical aberration such as Down syndrome for better management of upcoming pregnancies., (Copyright: © Pakistan Journal of Medical Sciences.)