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Acta Paediatrica (Oslo, Norway : 1992) Jun 2020To review multiorgan involvement and management in children with Down syndrome (DS). (Review)
Review
AIM
To review multiorgan involvement and management in children with Down syndrome (DS).
METHODS
A literature review of articles from 1980 to 2019 using the MEDLINE interface of PubMed was performed using the following search terms- [Down syndrome] or [Trisomy 21] AND [Cardiology] or [Respiratory] or [neurodevelopment] or [epilepsy] or [musculoskeletal] or [immune system] or [haematological] or [endocrine] or [gastrointestinal] or [ophthalmological] or [Ear Nose Throat] or [dermatology] or [renal].
RESULTS
Congenital heart disease particularly septal defects occur in over 60% of infants with DS and 5%-34% of infants develop persistent pulmonary hypertension of the newborn irrespective of a diagnosis of congenital heart disease. Early recognition and management of aspiration, obstructive sleep apnoea and recurrent lower respiratory tract infections (LRTI) could reduce risk of developing pulmonary hypertension in later childhood. Children with DS have an increased risk of autistic spectrum disorder, attention deficit disorder and epilepsy particularly infantile spasms, which are associated with poor neurodevelopmental outcomes. Congenital anomalies of the gastrointestinal and renal system as well as autoimmune diseases, coeliac disease, arthropathy, thyroid dysfunction fold diabetes mellitus and dermatological conditions are more common. Hearing and visual anomalies are also well recognised association with DS (Table 1).
CONCLUSION
Children with DS are at an increased risk of multiorgan comorbidities. Organ-specific health surveillance may provide holistic care for the children and families with DS throughout childhood.
Topics: Child; Comorbidity; Down Syndrome; Hearing Tests; Heart Defects, Congenital; Humans; Hypertension, Pulmonary; Infant; Infant, Newborn
PubMed: 31899550
DOI: 10.1111/apa.15153 -
Current Hematologic Malignancy Reports Oct 2016Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is... (Review)
Review
Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key haematopoietic transcription factor gene GATA1. These mutations are found in almost one third of DS neonates and are frequently clinically and haematologcially 'silent'. While the majority of cases of TAM undergo spontaneous remission, ∼10 % will progress to ML-DS by acquiring transforming mutations in additional oncogenes. Recent advances in the unique biological, cytogenetic and molecular characteristics of TAM and ML-DS are reviewed here.
Topics: Down Syndrome; GATA1 Transcription Factor; Humans; Leukemia, Myeloid, Acute; Leukemoid Reaction; Risk; Stem Cell Transplantation
PubMed: 27510823
DOI: 10.1007/s11899-016-0338-x -
Archives of Toxicology Dec 2016Down syndrome (DS) originates, in most of the cases (95 %), from a full trisomy of chromosome 21. The remaining cases are due to either mosaicism for chromosome 21 or... (Review)
Review
Down syndrome (DS) originates, in most of the cases (95 %), from a full trisomy of chromosome 21. The remaining cases are due to either mosaicism for chromosome 21 or the inheritance of a structural rearrangement leading to partial trisomy of the majority of its content. Full trisomy 21 and mosaicism are not inherited, but originate from errors in cell divisions during the development of the egg, sperm or embryo. In addition, full trisomy for chromosome 21 should be further divided into cases of maternal origin, the majority, and cases of paternal origin, less than 10 %. Among cases of maternal origin, a further stratification should be performed into errors that have occurred or originated during the first meiotic division in the maternal grandmother's body and errors that occurred later in life during the second maternal meiotic division. This complex scenario suggests that our understanding of the risk factors for trisomy 21 should take into account the above stratification as it reflects different individuals and generations in which the first error has occurred. Unfortunately, most of the available literature is focused on maternal risk factors, and the only certain risk factors for the birth of a child with DS are advanced maternal age at conception and recombination errors, even though the molecular mechanisms leading to chromosome 21 nondisjunction are still a matter of debate. This article critically reviews the hypotheses and the risk factors which have been suggested to contribute to the birth of a child with DS, including folate metabolism, dietary, lifestyle, environmental, occupational, genetic and epigenetic factors, with focus on maternal and paternal risk factors, and taking into account the possible contribution of the maternal grandmother and that of the developing trisomic embryo, in a complex scenario depicting the birth of a child with DS as the result of complex gene-environment interactions and selection processes involving different generations.
Topics: Adult; Diet, Healthy; Dietary Supplements; Down Syndrome; Environmental Exposure; Environmental Pollution; Evidence-Based Medicine; Family Health; Female; Folic Acid; Healthy Lifestyle; Humans; Infant, Newborn; Male; Maternal Age; Models, Biological; Mutagens; Recombination, Genetic; Risk Factors; Young Adult
PubMed: 27600794
DOI: 10.1007/s00204-016-1843-3 -
BMC Pediatrics May 2018The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study...
BACKGROUND
The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of 'augmentative and alternative communication' used in children with Down's syndrome.
METHODS
This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication. Studies published in English were selected if they met the following inclusion criteria: (1) study of children with a diagnosis of DS, and (2) assistive technology and/or augmentative and alternative communication analysis in this population.
RESULTS
A total of 1087 articles were identified. Thirteen articles met the inclusion criteria. The instruments most used by the studies were speech-generating devices (SGDs) and the Picture Exchange Communication System (PECS).
CONCLUSION
Twelve instruments that provided significant aid to the process of communication and socialization of children with DS were identified. These instruments increase the interaction between individuals among this population and their peers, contributing to their quality of life and self-esteem.
Topics: Child; Child Language; Communication Aids for Disabled; Down Syndrome; Humans; Motor Skills; Social Skills
PubMed: 29751828
DOI: 10.1186/s12887-018-1144-5 -
Journal of Neurology Dec 2021Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all... (Review)
Review
Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all organ systems. Improved healthcare interventions and research have allowed for increased life span of persons with DS, although disorders of the neurologic system remain underexplored. The purpose of this systematic review is to provide clinically pertinent information on the neurological phenotypes of frequently occurring or clinically relevant conditions. A retrospective review of MEDLINE, Scopus, and Pubmed were used to identify sources among seventeen, clinically relevant, search categories. MeSH terms all contained the phrase "Down Syndrome" in conjunction with the topic of interest. 'Frequently-occurring' was defined as prevalent in more than 10% of persons with DS across their lifespan, whereas 'clinically-relevant' was defined as a disease condition where early diagnosis or intervention can augment the disease course. In total, 4896 sources were identified with 159 sources meeting criteria for inclusion. Seventeen clinical conditions were grouped under the following subjects: hypotonia, intellectual and learning disability, cervical instability, autism spectrum disorder, epilepsy, cerebrovascular disease, Alzheimer's disease and neuropsychiatric disease. The results of this review provide a blueprint for the clinical neurologist taking care of persons with DS across the age spectrum and indicate that there are many underrecognized and misdiagnosed co-occurring conditions in DS, highlighting the need for further research.
Topics: Alzheimer Disease; Autism Spectrum Disorder; Comorbidity; Down Syndrome; Humans; Retrospective Studies
PubMed: 32920658
DOI: 10.1007/s00415-020-10179-w -
Medicina Clinica Apr 2020
Topics: Comorbidity; Down Syndrome; Humans; Incidence
PubMed: 30981436
DOI: 10.1016/j.medcli.2019.02.017 -
Revista Medica Del Instituto Mexicano... Sep 2023Down syndrome (DS) is the most common autosomal aneuploidy and the leading cause of intellectual disability of genetic origin worldwide. It is identified as a syndrome... (Review)
Review
Down syndrome (DS) is the most common autosomal aneuploidy and the leading cause of intellectual disability of genetic origin worldwide. It is identified as a syndrome in which the variability of its clinical manifestations and the severity of its phenotype have a multifactorial origin. Worldwide prevalence ranges between 1 per 700 live births and several factors that may be involved in the origin of DS have been proposed. Our objective was to describe updates regarding risk factors in the cytogenetic origin or cause of DS. We conducted a narrative review study in which a literature search was carried out from January to June 2022 in databases such as PubMed, EBSCO, Medigraphic, ClinicalKey, and meta-search engines such as Elsevier and Evidence Alerts. Only articles published in the last 10 years in English and Spanish were included. The search terms used were: Down syndrome, risk factors, prevention. Although DS is a very common chromosomal pathology worldwide, there is no single risk factor at the origin of meiotic or mitotic nondisjunction of chromosome 21, but rather each of the associated risk factors contributes to a greater or lesser degree to a cytogenetic predisposition in the etiology of trisomy 21. During the review it was identified that the main established risk factor associated with DS is still advanced maternal age (≥ 35 years).
Topics: Adult; Humans; Down Syndrome; Maternal Age; Nondisjunction, Genetic; Risk Factors; Female
PubMed: 37769135
DOI: 10.5281/zenodo.8316459 -
Blood Jul 2023
Topics: Humans; Down Syndrome; Genomics; Precursor Cell Lymphoblastic Leukemia-Lymphoma
PubMed: 37440267
DOI: 10.1182/blood.2023020508 -
Journal of Clinical Immunology Aug 2020
Topics: Adaptive Immunity; Biomarkers; Comorbidity; Down Syndrome; History, 20th Century; Humans; Research
PubMed: 32712750
DOI: 10.1007/s10875-020-00837-z -
Nursing Children and Young People Nov 2016Down's syndrome is one of the most common congenital anomalies, affecting 1:1000 infants in the UK. It occurs in people of all races, and males and females are equally...
Down's syndrome is one of the most common congenital anomalies, affecting 1:1000 infants in the UK. It occurs in people of all races, and males and females are equally affected. It was named after a British doctor who is credited as the first person to describe the condition.
Topics: Down Syndrome; Female; Humans; Infant; Infant, Newborn; Male
PubMed: 27821010
DOI: 10.7748/ncyp.28.9.17.s19