RESUMO
Individuals with Down syndrome (DS) have increased prevalence of Alzheimer's disease (AD) at an earlier age than the general population. Diagnostic tools that can improve diagnosis and treatment of dementia in DS and differentiate between dementia and intellectual disabilities include cognitive batteries, sensitive plasma assays, and PET imaging for amyloid and tau. Adults with DS should be included in memory clinic assessments and offered appropriate medications available to the general population with dementia. The Swedish dementia registry, SveDem, has added the diagnosis AD due to the genetic overload in DS, providing a national diagnostic registry for those with DS.
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Doença de Alzheimer , Demência , Síndrome de Down , Humanos , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Demência/diagnóstico , Demência/etiologia , Doença de Alzheimer/diagnóstico , Adulto , Diagnóstico Diferencial , Tomografia por Emissão de Pósitrons , Testes Neuropsicológicos , Sistema de RegistrosAssuntos
Síndrome de Down , Humanos , Síndrome de Down/complicações , Criança , Adulto Jovem , Adolescente , Qualidade de Vida , Nível de Saúde , Adulto , Singapura/epidemiologiaRESUMO
According to a biopsychosocial framework, personal and environmental factors might be mediators or facilitators/barriers, respectively, to functioning. However, it is not known how these factors can impact independence in household chores in children/adolescents with Down syndrome (DS). This study explored whether and how personal/environmental factors are associated with the independence level in household chores of children/adolescents with DS in Brazil. Caregivers of twenty-eight children/adolescents with DS were interviewed using the CHORES and a standardized questionnaire about personal (child's age and sex) and environmental (socioeconomic level and maternal schooling) factors. Multiple linear regression analysis identified if/how these factors are associated with level of independence. For CHORES self-care and CHORES total, sex was a significant variable explaining 21.8% and 15.8%, respectively, of the variation in the outcomes. For the outcome CHORES family care none of the variables was significant. Female sex was associated with a lower need for assistance. We conclude that only the personal factor assessed related to female sex in children with DS was associated with the independence level in household chores. This finding highlights the importance of health care providers and families to encourage the independence in chores regardless of sex and promote opportunities for both boys and girls.
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Síndrome de Down , Fatores Socioeconômicos , Humanos , Síndrome de Down/psicologia , Feminino , Masculino , Estudos Transversais , Criança , Adolescente , Brasil/epidemiologia , Inquéritos e Questionários , Fatores Sexuais , Atividades Cotidianas , Pré-Escolar , Cuidadores/psicologia , ZeladoriaRESUMO
BACKGROUND: Multiple marker screening is offered to pregnant individuals in many jurisdictions to screen for trisomies 21 and 18. On occasion, the result is 'double-positive'-a screening result that is unexpectedly positive for both aneuploidies. Although this occurs rarely, the paucity of available evidence about the outcomes of these pregnancies hinders patient counselling. This study aimed to investigate the association of double-positive results with preterm birth and other adverse perinatal outcomes. METHODS: We conducted a population-based retrospective cohort study of pregnancies with an estimated date of delivery from September 1, 2016, to March 31, 2021, using province-wide perinatal registry data in Ontario, Canada. Pregnancies with double-positive screening results where trisomies 21 and 18 were ruled-out were compared to pregnancies with screen negative results for both aneuploidies. We used modified Poisson regression models with robust variance estimation to examine the association of double positive results with preterm birth and secondary outcomes. RESULTS: From 429 540 pregnancies with multiple marker screening, 863 (0.2%) had a double-positive result; trisomies 21 and 18 were ruled out in 374 pregnancies, 203 of which resulted in a live birth. Among the pregnancies in the double-positive group resulting in a live birth, the risk of preterm birth was increased compared to pregnancies with a screen negative result: adjusted risk ratio (aRR) 2.6 (95%CI 2.0-3.6), adjusted risk difference (aRD) 10.5% (95%CI 5.4-15.7). In a sensitivity analysis excluding all diagnosed chromosomal abnormalities, the risk of preterm birth remained elevated to a similar degree: aRR 2.6 (95%CI 1.9-3.7), aRD 10.0% (95%CI 4.8-15.3). The risk of other adverse perinatal outcomes was also higher, including the risk of chromosomal abnormalities other than trisomies 21 and 18: aRR 81.1 (95%CI 69.4-94.8), aRD 34.0% (95%CI 29.2-38.8). Pregnancies with double-positive results were also less likely to result in a live birth, even when excluding all diagnosed chromosomal abnormalities; and at increased risk of adverse perinatal outcomes for those resulting in a live birth. CONCLUSION: Although rare, double-positive multiple marker screening results are associated with an increased risk of preterm birth and other adverse perinatal outcomes, even when excluding all identified chromosomal abnormalities.
Assuntos
Síndrome de Down , Nascimento Prematuro , Humanos , Feminino , Gravidez , Ontário/epidemiologia , Síndrome de Down/diagnóstico , Adulto , Estudos Retrospectivos , Nascimento Prematuro/epidemiologia , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Resultado da Gravidez/epidemiologia , Recém-Nascido , Biomarcadores/sangue , Sistema de RegistrosRESUMO
OBJECTIVE: There is a general assumption that Muslim women refuse Down syndrome screening, and therefore, many health practitioners do not offer it or briefly discuss it with their participants. This study aims to objectively assess women's awareness, knowledge, and attitudes toward Down Syndrome screening (D.S.S) in a Muslim-majority population. METHODS: We conducted a cross-sectional study among attendees of antenatal clinics at a major university hospital in Saudi Arabia, aiming for a sample size of at least 385 Muslim women. A semi-structured questionnaire assessed awareness of different D.S.S. options and the source of that information (2 items), specific knowledge of D.S.S. (14 items), and attitudes (4 items). The knowledge and attitudes scores were calculated using a five-level agreement Likert-type scale. RESULTS: Among 434 participants, with an even distribution among all age groups and a majority of a college degree holder or higher (71%), 178 (41.0%) reported awareness of D.S.S. Factors associated with increased awareness were maternal age above 40 or those under 30, nulliparity, and extended family history of fetal congenital anomalies (P-value = 0.03,0.015, and 0.017, respectively). Recognized tests were ultrasound measurement of nuchal translucency (71.9%) and first-trimester serum screening (58.4%). The sources of knowledge were obstetricians (53.9%), followed by family and friends (27.0%). The overall mean ± SD knowledge score was 53.9 ± 8.7 out of 70, and the mean attitude score was 17.4 ± 2.9 out of 20. Having 1 or 2 children is associated with a higher knowledge score, and most participants who reported awareness of D.S.S. (51.7%) had a favorable attitude toward screening. CONCLUSION: Awareness of D.S.S. among Muslim women is associated with favorable attitudes towards testing, contradicting the general assumption and highlighting the need for systematic education to increase awareness and subsequent testing uptake.
Assuntos
Síndrome de Down , Conhecimentos, Atitudes e Prática em Saúde , Islamismo , Humanos , Feminino , Síndrome de Down/diagnóstico , Síndrome de Down/psicologia , Islamismo/psicologia , Adulto , Estudos Transversais , Arábia Saudita , Gravidez , Inquéritos e Questionários , Adulto Jovem , Diagnóstico Pré-Natal/psicologia , Diagnóstico Pré-Natal/métodos , Pessoa de Meia-Idade , Escolaridade , Programas de Rastreamento/psicologia , Programas de Rastreamento/estatística & dados numéricos , Programas de Rastreamento/métodos , Adolescente , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricosRESUMO
Down syndrome predisposes individuals to haematological abnormalities, such as increased number of erythrocytes and leukaemia in a process that is initiated before birth and is not entirely understood1-3. Here, to understand dysregulated haematopoiesis in Down syndrome, we integrated single-cell transcriptomics of over 1.1 million cells with chromatin accessibility and spatial transcriptomics datasets using human fetal liver and bone marrow samples from 3 fetuses with disomy and 15 fetuses with trisomy. We found that differences in gene expression in Down syndrome were dependent on both cell type and environment. Furthermore, we found multiple lines of evidence that haematopoietic stem cells (HSCs) in Down syndrome are 'primed' to differentiate. We subsequently established a Down syndrome-specific map linking non-coding elements to genes in disomic and trisomic HSCs using 10X multiome data. By integrating this map with genetic variants associated with blood cell counts, we discovered that trisomy restructured regulatory interactions to dysregulate enhancer activity and gene expression critical to erythroid lineage differentiation. Furthermore, as mutations in Down syndrome display a signature of oxidative stress4,5, we validated both increased mitochondrial mass and oxidative stress in Down syndrome, and observed that these mutations preferentially fell into regulatory regions of expressed genes in HSCs. Together, our single-cell, multi-omic resource provides a high-resolution molecular map of fetal haematopoiesis in Down syndrome and indicates significant regulatory restructuring giving rise to co-occurring haematological conditions.
Assuntos
Síndrome de Down , Sangue Fetal , Hematopoese , Células-Tronco Hematopoéticas , Análise de Célula Única , Síndrome de Down/genética , Síndrome de Down/metabolismo , Humanos , Células-Tronco Hematopoéticas/metabolismo , Células-Tronco Hematopoéticas/citologia , Hematopoese/genética , Sangue Fetal/citologia , Sangue Fetal/metabolismo , Estresse Oxidativo/genética , Transcriptoma/genética , Feminino , Mitocôndrias/metabolismo , Mitocôndrias/genética , Trissomia/genética , Fígado/metabolismo , Fígado/embriologia , Diferenciação Celular/genética , Cromatina/metabolismo , Cromatina/genética , Linhagem da Célula/genética , Medula Óssea/metabolismo , Feto/metabolismo , Feto/citologia , MultiômicaRESUMO
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder with progressive proximal weakness as the principal sign. Glucocorticoids and physical therapy are the mainstay of treatment. Exercise intolerance is the hallmark of metabolic myopathies, which require a combination of laboratory testing, electrodiagnostic testing, and muscle biopsy for diagnosis. Joint hypermobility may be an isolated finding or be associated with hypermobility Ehlers-Danlos syndrome (EDS), other variants of EDS, or marfanoid syndromes. The latter conditions are associated with aortic and cardiac valvular abnormalities. Osteogenesis imperfecta encompasses a group of disorders characterized by bone fragility presenting with a low-impact fracture as a result of minimal trauma. Management includes multidiscipline specialists. Down syndrome (DS), or trisomy 21, is the most common chromosome abnormality identified in live births. Routine evaluation of atlantoaxial instability with x-ray is no longer recommended for children with DS without symptoms of atlantoaxial instability; however, clinical evaluation of symptoms is required for sports preparticipation. Achondroplasia is the most common skeletal dysplasia. Clinical signs are macrocephaly, short limb, short stature with disproportionately shorter humerus and femur, along with characteristic findings in pelvis and lumbar spine x-rays. Caregivers should be educated on proper positioning and handling to avoid complications, including car seat-related deaths.
Assuntos
Acondroplasia , Síndrome de Ehlers-Danlos , Osteogênese Imperfeita , Humanos , Criança , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Adolescente , Acondroplasia/diagnóstico , Acondroplasia/genética , Acondroplasia/terapia , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/terapia , Instabilidade Articular/diagnóstico , Instabilidade Articular/terapia , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/terapia , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/terapia , Síndrome de Marfan/complicações , Síndrome de Marfan/genética , Glucocorticoides/uso terapêutico , Modalidades de FisioterapiaRESUMO
Importance: With the advancement in administrative data as a research tool and the reliance on public health insurance for individuals with Down syndrome, population-level trends in Alzheimer dementia in this population are beginning to be understood. Objective: To comprehensively describe the epidemiology of Alzheimer dementia in adults with Down syndrome in a full US Medicare and Medicaid sample. Design, Setting, and Participants: This cohort study included 132â¯720 adults aged 18 years or older with Medicaid and/or Medicare claims data with an International Statistical Classification of Diseases and Related Health Problems code for Down syndrome. Data were collected from January 1, 2011, to December 31, 2019, and analyzed from August 2023 to May 2024. Main Outcomes and Measures: The main outcome was prevalence of Alzheimer dementia in each calendar year and during the 9-year period. Alzheimer dementia incidence rates by calendar year and age and stratified for race or ethnicity as well as time to death after Alzheimer dementia diagnosis were also assessed. Results: There were 132â¯720 unique adults with Down syndrome from 2011 to 2019: 79â¯578 (53.2%) were male, 17â¯090 (11.7%) were non-Hispanic Black, 20â¯777 (15.7%) were Hispanic, 101â¯120 (68.8%) were non-Hispanic White, and 47â¯692 (23.3%) had ever had an Alzheimer dementia diagnosis. Incidence was 22.4 cases per 1000 person-years. The probability of an incident Alzheimer dementia diagnosis over 8 years was 0.63 (95% CI, 0.62-0.64) for those entering the study between ages 55 to 64 years. Mean (SD) age at incident diagnosis was 54.5 (7.4) years and median (IQR) age was 54.6 (9.3) years. Mean (SD) age at death among those with Alzheimer dementia was 59.2 (6.9) years (median [IQR], 59.0 [8.0] years). The mean (SD) age at onset for the Hispanic group was 54.2 (9.2) years, 52.4 (7.8) years for the American Indian or Alaska Native group, and 52.8 (8.2) years for the mixed race groups compared with 55.0 (7.8) years for the White non-Hispanic group. For age at death, there were no differences by sex. The mean (SD) age at death was later for the White non-Hispanic group (59.3 [6.8] years) compared with the Hispanic group (58.5 [7.8] years), Native American group (57.8 [7.1] years), and mixed race group (58.2 [7.0] years). Conclusions and Relevance: In this cohort study of adults with Down syndrome who were enrolled in Medicaid and Medicare, Alzheimer dementia occurred at high rates. Consistency with clinical studies of dementia in Down syndrome supports the use of administrative data in Down syndrome-Alzheimer dementia research.
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Doença de Alzheimer , Síndrome de Down , Humanos , Síndrome de Down/epidemiologia , Síndrome de Down/complicações , Doença de Alzheimer/epidemiologia , Masculino , Feminino , Estados Unidos/epidemiologia , Pessoa de Meia-Idade , Idoso , Adulto , Medicare/estatística & dados numéricos , Estudos de Coortes , Medicaid/estatística & dados numéricos , Prevalência , Incidência , Idoso de 80 Anos ou mais , Adolescente , Adulto JovemRESUMO
Background and Objectives: Down syndrome (DS) is the most common chromosomal disorder in the world. It is caused by the imbalance of the chromosomal constitution of 21 by free trisomy, translocation or mosaicism. Children and adolescents with Down syndrome have immune dysregulation and are more susceptible to infections. This study aims to evaluate hospitalizations of children and adolescents with DS in the pediatric ward of Botucatu Clinics Hospital (HCFMB) and to classify the population of children included in the study according to age, diagnosis, outpatient follow-up, length of stay and need for the intensive care unit (ICU). Thus, it will be possible to improve care for these children, aiming to reduce these hospitalizations. Materials and Methods: This study was an observational, cross-sectional study, with retrospective data collected from the last nine years of hospitalization, from January 2013 to December 2021, from children and adolescents with DS in the pediatric ward, emergency room, and the ICU of HCFMB. Children hospitalized in this period in the pediatric ward and ICU, in the age range of 30 days to 15 years, were included in this study. The evaluation of comorbidities that culminated in the need for hospitalization in this population can be the focus of actions to improve the diagnoses and conducts for this population, which can prevent worsening illness and hospitalizations in future populations. Results: In this analysis, 80 children with DS were evaluated, with a total of 283 hospitalizations. The most prevalent age group was 1 to 3 years, and the main cause was due to problems in the respiratory system (99 cases). Among the respiratory causes, the main cause of hospitalization was due to pneumonia in 50% of cases, followed by acute respiratory failure in 14%. The average hospitalization time was 8 days, and in 49 hospitalizations, the children required the ICU. The main cause of hospitalization in the ICU was due to respiratory causes (36%), followed by cardiac malformations (14%). During the ICU hospitalizations, there were 13 deaths, and we observed a higher prevalence of heart conditions and, in some cases, positive urine cultures in these children. Conclusions: The Hospital serves as a reference for pediatric hospitalizations within its region and beyond, owing to its specialized capabilities. The main causes of hospitalization were those related to the respiratory system and cardiac malformations. Roughly one-third of the children required admission to the intensive care unit.
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Síndrome de Down , Hospitalização , Humanos , Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Pré-Escolar , Criança , Adolescente , Lactente , Hospitalização/estatística & dados numéricos , Masculino , Feminino , Estudos Transversais , Estudos Retrospectivos , Tempo de Internação/estatística & dados numéricosRESUMO
Noonan syndrome (NS) is an autosomal dominant disorder that varies in severity and can involve multiple organ systems. In approximately 50% of cases, it is caused by missense mutations in the PTPN11 gene (12q24.13). NS is associated with a higher risk of cancer occurrence, specifically hematological disorders. Here, we report a case of a child who was diagnosed at birth with a transient myeloproliferative disorder (TMD). After two years, the child developed hyperdiploid B-cell precursor acute lymphoblastic leukemia (BCP-ALL), receiving a two-year course of treatment. During her continuous complete remission (CCR), a heterozygous germline mutation in the PTPN11 gene [c.218 C>T (p.Thr73lle)] was identified. At the age of ten, the child presented with massive splenomegaly, hyperleukocytosis, and thrombocytopenia, resulting in the diagnosis of juvenile myelomonocytic leukemia (JMML). After an initial response to antimetabolite therapy (6-mercaptopurine), she underwent haploidentical hematopoietic stem cell transplantation (HSCT) and is currently in complete remission. The goal of this review is to gain insight into the various hematological diseases associated with NS, starting from our unique case.
Assuntos
Leucemia Mielomonocítica Juvenil , Síndrome de Noonan , Proteína Tirosina Fosfatase não Receptora Tipo 11 , Humanos , Leucemia Mielomonocítica Juvenil/genética , Leucemia Mielomonocítica Juvenil/complicações , Leucemia Mielomonocítica Juvenil/terapia , Síndrome de Noonan/genética , Síndrome de Noonan/complicações , Feminino , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Criança , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Transtornos Mieloproliferativos/genética , Transtornos Mieloproliferativos/complicações , Transtornos Mieloproliferativos/diagnóstico , Mutação em Linhagem Germinativa , Síndrome de Down , Reação LeucemoideRESUMO
Due to improvements in recognition and management of their multisystem disease, the long-term survival of infants, children, and adolescents with trisomy 21 and congenital heart disease now matches children with congenital heart disease and no genetic condition in many scenarios. Although this improved survival is a triumph, individuals with trisomy 21 and congenital heart disease have unique and complex care needs in the domains of physical, developmental, and psychosocial health, which affect functional status and quality of life. Pulmonary hypertension and single ventricle heart disease are 2 known cardiovascular conditions that reduce life expectancy in individuals with trisomy 21. Multisystem involvement with respiratory, endocrine, gastrointestinal, hematological, neurological, and sensory systems can interact with cardiovascular health concerns to amplify adverse effects. Neurodevelopmental, psychological, and functional challenges can also affect quality of life. A highly coordinated interdisciplinary care team model, or medical home, can help address these complex and interactive conditions from infancy through the transition to adult care settings. The purpose of this Scientific Statement is to identify ongoing cardiovascular and multisystem, developmental, and psychosocial health concerns for children with trisomy 21 and congenital heart disease from birth through adolescence and to provide a framework for monitoring and management to optimize quality of life and functional status.
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Síndrome de Down , Cardiopatias Congênitas , Qualidade de Vida , Humanos , Síndrome de Down/psicologia , Síndrome de Down/terapia , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/psicologia , Cardiopatias Congênitas/fisiopatologia , Adolescente , Criança , Estados Unidos , Recém-Nascido , American Heart Association , Lactente , Pré-Escolar , Estado Funcional , Nível de SaúdeRESUMO
Exploring efficient and easily implementable prenatal screening strategies aims at birth defect prevention and control. However, there have been limited economic evaluations of non-invasive prenatal screening (NIPS) strategies in China. Furthermore, these studies were predominantly confined to local or geographically proximate provinces and lacked universality and representativeness. This study assesses the health economics of current prenatal screening strategies and NIPS as first-line screening programs, analyzing their efficacy to determine an optimal strategy. From the perspective of health economics, cost-effectiveness, cost-benefit, and single-factor sensitivity were conducted for five different screening strategies using a decision tree model. Among pregnant women aged < 35 years who underwent only one screening for foetal Down syndrome (DS), the detection rate, false positive rate and positive predictive value of NIPS for foetuses with DS were superior to those of the other four serological screening methods. Although applying NIPS as first-line screening method yields the highest efficacy and benefits, it currently lacks cost-effectiveness when compared to serological screening and sequential NIPS screening strategies.
Assuntos
Análise Custo-Benefício , Síndrome de Down , Diagnóstico Pré-Natal , Síndrome de Down/diagnóstico , Humanos , Feminino , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/economia , Adulto , China/epidemiologia , Teste Pré-Natal não Invasivo/métodosRESUMO
OBJECTIVES: The American Academy of Pediatrics recommends that children and adolescents with Down syndrome receive anticipatory guidance regarding development and behavior. However, few tools provide specific guidance on developmental norms for children with Down syndrome. Our objective was to estimate age ranges at which children and adolescents with Down syndrome achieve developmental milestones to facilitate developmental screening by pediatric practitioners. METHODS: We used standardized questionnaires to obtain information from clinicians and caregivers of children with Down syndrome who received care at the Boston Children's Hospital Down Syndrome Program between March 2018 and March 2023. Data included information from 2599 visits for 842 individuals with Down syndrome ages 2 months to 24 years. We used mixed-effects logistic regressions to predict the probability of achieving 25 specific developmental milestones with 15%, 30%, 45%, 60%, 75%, and 90% probability as a function of age. We further stratified results by individuals' sex. RESULTS: We present age norms for our study's population of people with Down syndrome for key milestones in academic, adaptive, language, and motor domains by calculating the ages at which milestone achievement was 75% probable. We then compare these norms to published norms for the general population. CONCLUSIONS: This study provides clinicians and families with age-based norms for achievement of key developmental milestones for children and adolescents with Down syndrome.
Assuntos
Desenvolvimento Infantil , Síndrome de Down , Humanos , Síndrome de Down/diagnóstico , Pré-Escolar , Criança , Masculino , Adolescente , Feminino , Lactente , Desenvolvimento Infantil/fisiologia , Adulto Jovem , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Fatores EtáriosRESUMO
Introduction: The aims of this systematic review and meta-analysis are to synthesise quality of life (QOL) of family caregivers of children and young adults with Down syndrome (DS) and determine factors affecting their QOL. Method: This review was conducted as per Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline. Key search terms were "quality of life", "down syndrome" and "trisomy 21". Meta-analysis using random effect model was conducted where feasible. All studies underwent qualitative synthesis. The study protocol was registered with PROSPERO (CRD42023413532). Results: Eighteen studies with 1956 caregivers were included. Of the 10 studies utilising the World Health Organization Quality of Life Instrument-Brief Version, 5 were included in the meta-analysis. Psychosocial domain had the highest score with mean (95% confidence interval [CI]) of 63.18 (39.10-87.25). Scores were poorer in physical, environmental and social domains: 59.36 (28.24-90.48), 59.82 (19.57-100.07) and 59.83 (44.24-75.41), respectively. Studies were heterogenous with I2 values ranging from 99-100% (P<0.01). The remaining 8 studies used 6 other instruments. Qualitative synthesis revealed that caregivers' QOL was adversely affected by child-related factors, such as level of functional independence, developmental delay, presence of multiple comorbidities, impaired activities of daily living and poor sleep quality. Environmental factors that adversely affected caregivers' QOL included number of children, housing and support from the family. Personal factors that affected caregivers' QOL included age, being a single mother, low education and low income. Conclusion: QOL of caregivers of children with DS was lower than population reference data. Understand-ing the factors that influence family caregivers' QOL is an essential step towards improving the QOL of caregivers and their children with DS.
Assuntos
Cuidadores , Síndrome de Down , Qualidade de Vida , Adolescente , Adulto , Criança , Humanos , Adulto Jovem , Cuidadores/psicologia , Síndrome de Down/psicologia , Síndrome de Down/terapiaRESUMO
Introduction: Down syndrome (DS) negatively impacts the well-being of affected individuals. This study aimed to summarise the evidence on quality of life (QOL) of children and young adults with DS using quantitative measures from caregivers' perspective and identify factors that affected their QOL. Method: Database search was conducted on PubMed, Embase, Web of Science and CINAHL on 24 April 2024. Meta-analysis using random effects model was conducted where feasible. All studies underwent qualitative synthesis. The study protocol was registered with PROSPERO (CRD42023413532). Results: Seventeen studies involving 3038 children with DS using various QOL measures were included: Pediatric Quality of Life Inventory (PedsQL) (8 studies), KIDSCREEN (4 studies), KidsLife (2 studies), The Netherlands Organization for Applied Scientific Research Academic Medical Center Children's QOL (2 studies) and Personal Outcome Scale (1 study). Meta-analysis on PedsQL studies compared scores between children with DS and typically developing (TD) children. Total scale score was lower in children with DS (mean 70.28, 95% confidence interval [CI] 64.31-76.24) compared to TD children (mean 88.17, 95% CI 80.50-95.83). All subdomains of PedsQL were also lower in children with DS. Within the domain of psychosocial health, children with DS had statistically significant lower social functioning (standardised mean difference -1.40, 95% CI -2.27 to -0.53) and school functioning (standardised mean difference -1.09, 95% CI -1.55 to -0.62) scores, but similar emotional functioning scores. Qualitative synthesis revealed poorer subdomain QOL compared to TD children, especially in social functioning and cognitive functioning. QOL worsened during adolescent years. Family variables (parental education and occupation) did not affect parental perception of children's QOL. Children with DS who had higher intelligent quotient had better QOL. Conclusion: Children with DS have lower caregiver-reported QOL than TD children, especially in social functioning and school functioning subdomains.
Assuntos
Cuidadores , Síndrome de Down , Qualidade de Vida , Adolescente , Criança , Humanos , Adulto Jovem , Cuidadores/psicologia , Síndrome de Down/psicologiaRESUMO
Diabetic mastopathy is a rare and benign pathology affecting young individuals with type 1 diabetes or autoimmune diseases. It clinically resembles breast cancer, necessitating a histological examination for a definitive diagnosis. These cases underscore the diagnostic challenges and the importance of histological examination. This report details two cases of diabetic mastopathy at Mohammed VI Hospital in Marrakech. The first case involved a 35-year-old with type 1 diabetes and mastodynia, revealing a 4 x 3 cm nodule in the left breast. Biopsies confirmed fibrous breast tissue with lymphocytic infiltrates, characteristic of diabetic mastopathy, with no recurrence during follow-up. The second case featured a 38-year-old with trisomy 21 and type 1 diabetes presenting with a right breast abscess. Drainage revealed lymphocytic infiltrates, confirming diabetic mastopathy. Though diagnostically challenging, diabetic mastopathy lacks a direct link to breast cancer. Long-term cancer risks in affected patients mirror the general population.