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American Journal of Medical Genetics.... Dec 2023Individuals with Down syndrome (DS) or Autism Spectrum Disorder (ASD), and especially those with both DS and co-occurring ASD (DS + ASD) commonly display behavioral... (Review)
Review
Individuals with Down syndrome (DS) or Autism Spectrum Disorder (ASD), and especially those with both DS and co-occurring ASD (DS + ASD) commonly display behavioral and psychiatric symptoms that can impact quality of life and places increased burden on caregivers. While the mainstay of treatment in DS and ASD is focused on educational and behavioral therapies, pharmacological treatments can be used to reduce symptom burden. There is a paucity of evidence and limited clinical trials in DS and DS + ASD. Some scientific evidence is available, primarily in open label studies and case series that can guide treatment choices. Additionally, clinical decisions are often extrapolated from evidence and experience from those with ASD, or intellectual disability in those without DS. This article reviews current research in pharmacological treatment in DS, ASD, and DS + ASD, reviews co-occurring neurodevelopmental and mental health diagnoses in individuals with DS + ASD across the lifespan, and describes practical approaches to psychopharmacological management.
Topics: Humans; Autism Spectrum Disorder; Down Syndrome; Quality of Life; Intellectual Disability
PubMed: 37870763
DOI: 10.1002/ajmg.c.32069 -
Free Radical Biology & Medicine Jan 2018Alzheimer's disease (AD) may affect in excess of 90% of individuals with Down syndrome (DS) after age 60, due to duplication of the APP gene in trisomy of chromosome 21,... (Review)
Review
Alzheimer's disease (AD) may affect in excess of 90% of individuals with Down syndrome (DS) after age 60, due to duplication of the APP gene in trisomy of chromosome 21, with neuropathology that is comparable to Sporadic AD and Familial AD (FAD). Previous literature suggested some unique features in clinical presentation of dementia in DS (DSd), which might be due to diagnostic difficulties, or represent a real difference compared to SAD or FAD. We review current knowledge on clinical diagnosis and presentation of dementia in DS in comparison with FAD due to APP mutations and APP duplication. We suggest that the clinical presentation in DS (prominent memory decline and behavioral symptoms, and early development of myoclonus and seizures) are similar to the clinical features associated with APP mutations that is known to have an increased Aβ42/ Aβ40 ratio, and highlight the relative lack of vascular complications associated with cerebral amyloid angiopathy in DS in comparison with those rare individuals with FAD due to duplication APP. We consider the biomarker evidence associated with DS and DSd with reference to Aβ peptide levels and oxidative stress, and suggest future directions for research to explore the potential mechanisms associated with the clinical presentation of DSd.
Topics: Alzheimer Disease; Biomarkers; Down Syndrome; Humans; Mutation
PubMed: 28870521
DOI: 10.1016/j.freeradbiomed.2017.08.024 -
American Journal of Medical Genetics.... Feb 2021Limited knowledge exists about how frequently newborns with Down syndrome receive a prenatal diagnosis, require intensive care, and what surgical and medical factors are...
Limited knowledge exists about how frequently newborns with Down syndrome receive a prenatal diagnosis, require intensive care, and what surgical and medical factors are contributory. A retrospective cohort study was performed for patients with a diagnosis of Down syndrome born in 2013 and 2014 who sought care at Cincinnati Children's Hospital Medical Center during the first year of life. Data were extracted from the electronic medical record through the first year of life including need for intensive care as a newborn, prenatal diagnosis, and medical and surgical complications. Of the 129 patients in the study, 65% required intensive care as newborns. The presence of a structural abnormality that required surgical correction in the neonatal period and certain types of congenital heart disease not requiring surgical intervention in the neonatal period were positively associated with the need for intensive care. A minority of infants, 8%, had a confirmed prenatal diagnosis. A majority of newborns with Down syndrome required intensive care following birth while a minority had any concern for the diagnosis prenatally. Improving prenatal diagnostic rates would allow for better prenatal counseling and delivery planning, while targeting therapeutic interventions for this population is needed to improve outcomes.
Topics: Child; Down Syndrome; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Intensive Care, Neonatal; Male; Pregnancy; Prenatal Diagnosis; Risk Factors
PubMed: 33128508
DOI: 10.1002/ajmg.a.61948 -
Congenital Anomalies May 2016Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading cause of... (Review)
Review
Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading cause of intellectual disability and birth defects. Although most prenatally diagnosed DS fetuses are aborted in Taiwan, there are still some infants with DS who are diagnosed after birth. In addition to intellectual disability, people with DS face systemic problems that include short stature, dysmorphism, congenital heart disease, congenital anomalies of gastrointestinal and genitourinary tracts, abnormal endocrine function, leukemia and leukemoid reactions. To provide better care for people with DS in Taiwan, we began the DS multi-disciplinary clinic that has opened once per month since November 2013. The multi-disciplinary clinic consists of several subspecialists who provide care for DS people. To date, approximately 200 patients have used the clinic. The average number of patients who use the clinic per month is 27±6 with a mean patient age of 16±12 years old (range 0.3-53 years). The average number of patients per specialist on each clinic day is 5.2±4.9 (range 0.5-20.9 patients). We focus on early detection and prevention of medical and developmental issues associated with DS. This coordinated approach allows DS patients and family to have more comprehensive care.
Topics: Delivery of Health Care, Integrated; Down Syndrome; Humans; Prenatal Diagnosis; Prevalence; Quality Improvement; Taiwan
PubMed: 26866291
DOI: 10.1111/cga.12159 -
AORN Journal Jul 2022Down syndrome (DS) is the most common chromosomal abnormality in humans that is compatible with life. This syndrome occurs when there is an extra copy of the 21st... (Review)
Review
Down syndrome (DS) is the most common chromosomal abnormality in humans that is compatible with life. This syndrome occurs when there is an extra copy of the 21st chromosome. Down syndrome is associated with numerous comorbidities that can pose challenges for the perioperative nurse caring for a patient with DS undergoing surgery. These challenges can affect the patient assessment, communication with the patient, and patient safety (eg, preventing complications). As the life expectancy of people with DS has increased, so too have the chances that perioperative nurses will care for a patient with this disorder. This article reviews the pathophysiology of DS, discusses common comorbidities that may directly affect perioperative care, and reviews an exemplar case study that demonstrates how personnel with knowledge of DS can positively influence surgical team decision making for these patients in the perioperative setting.
Topics: Down Syndrome; Humans
PubMed: 35758744
DOI: 10.1002/aorn.13712 -
Paediatric Anaesthesia Apr 2016Down syndrome is a common chromosome disorder affecting all body systems. This creates unique physiologic concerns that can affect safety during anesthesia and surgery.... (Review)
Review
Down syndrome is a common chromosome disorder affecting all body systems. This creates unique physiologic concerns that can affect safety during anesthesia and surgery. Little consensus exists, however, on the best way to evaluate children with Down syndrome in preparation for surgery. We review a number of salient topics affecting these children in the perioperative period, including cervical spine instability, cardiovascular abnormalities, pulmonary hypertension, upper airway obstruction, hematologic disturbances, prematurity, low birth weight, and the use of supplements and alternative therapies. Recommendations include obtaining a complete blood count to detect an increased risk for bleeding or stroke, and cardiology evaluation to identify patients with pulmonary hypertension, as well as undiagnosed or residual heart disease. Pediatric cardiac anesthesiologists and intensivists should be involved as needed. The potential for cervical spine instability should be considered, and the anesthesiologist may wish to have several options available both for the medications and equipment used. The child's family should always be asked if he or she is on any nutritional supplements, as some products marketed to families may have secondary effects such as inhibition of platelet function. Using this evaluation in presurgical planning will allow physicians to better consider the individual circumstances for their patients with Down syndrome. Our goal was to optimize patient safety by choosing the most appropriate setting and perioperative personnel, and to mitigate those risk factors amenable to intervention.
Topics: Adolescent; Child; Child, Preschool; Down Syndrome; Humans; Infant; Infant, Newborn; Preoperative Care; Risk Assessment; Young Adult
PubMed: 26749540
DOI: 10.1111/pan.12841 -
Pediatrics International : Official... Mar 2019
Topics: Down Syndrome; GATA1 Transcription Factor; Humans; Infant; Leukemoid Reaction; Mutation
PubMed: 30916856
DOI: 10.1111/ped.13794 -
Advances in Child Development and... 2019Infants and children with Down syndrome (DS) can look forward toward bright futures, as individuals with DS are living healthier, more productive lives than ever due to... (Review)
Review
Infants and children with Down syndrome (DS) can look forward toward bright futures, as individuals with DS are living healthier, more productive lives than ever due to medical advances, opportunities for early and continued intervention, and inclusive education. Despite these advances, infants and children with DS experience challenges in specific domains of cognitive functioning relative to their typically developing (TD) peers. Over the long term, individuals with DS are also more likely to develop Alzheimer's disease relative to the general population. Understanding cognitive functioning early in life may be important in charting cognitive decline over time. This chapter synthesizes the literature on cognitive functioning in infants and children with DS specific to general intelligence or IQ, language development, recall memory, and executive functioning, with additional focus on critical issues and future directions. These research findings provide important information for understanding cognitive competencies and intervention opportunities for children with DS and also serves to provide a foundation from which to plan longitudinal studies examining stability and change in cognitive functioning over time.
Topics: Child, Preschool; Cognitive Dysfunction; Down Syndrome; Executive Function; Humans; Infant; Intelligence; Language Development; Memory
PubMed: 30846049
DOI: 10.1016/bs.acdb.2019.01.002 -
Pharmacotherapy Feb 2017Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including... (Review)
Review
Down syndrome (DS; trisomy 21) is the most common survivable disorder due to aneuploidy. Individuals with DS may experience multiple comorbid health problems including congenital heart defects, endocrine abnormalities, skin and dental problems, seizure disorders, leukemia, dementia, and obesity. These associated conditions may necessitate pharmacotherapeutic management with various drugs. The complex pathobiology of DS may alter drug disposition and drug response in some individuals. For example, reports have documented increased rates of adverse drug reactions in patients with DS treated for leukemia and dementia. Intellectual disability resulting from DS may impact adherence to medication regimens. In this review, we highlight literature focused on pharmacotherapy for individuals with DS. We discuss reports of altered drug disposition or response in patients with DS and explore social factors that may impact medication adherence in the DS setting. Enhanced monitoring during drug therapy in individuals with DS is justified based on reports of altered drug disposition, drug response, and other characteristics present in this population.
Topics: Down Syndrome; Drug Monitoring; Drug-Related Side Effects and Adverse Reactions; Humans; Medication Adherence; Pharmaceutical Preparations
PubMed: 27931082
DOI: 10.1002/phar.1880 -
Nature Reviews. Immunology Apr 2023The immune system in individuals with Down syndrome is characterized by steady state increases in cytokine expression, T cell activation, atypical B cell responses and...
The immune system in individuals with Down syndrome is characterized by steady state increases in cytokine expression, T cell activation, atypical B cell responses and the presence of numerous autoantibodies.
Topics: Humans; Down Syndrome; Immune System Diseases
PubMed: 36914822
DOI: 10.1038/s41577-023-00855-z