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PURPOSE: After living with the COVID-19 pandemic for more than 2 years, the impact of lockdown measures on preterm birth rates is inconsistent according to data from different countries. In this study, rates of preterm-born infants during the time of COVID-19-related lockdowns were analyzed in a tertiary perinatal center at Munich University, Germany. METHODS: We analyzed the number of preterm births, infants, and stillbirths before 37 weeks of gestation during the German COVID-19 lockdown period compared to the same time periods in the years 2018 and 2019 combined. Additionally, we expanded the analysis to Pre- and Post-Lockdown Periods in 2020 compared to the respective control periods in the years 2018 and 2019. RESULTS: Our database shows a reduction in the rate of preterm infants during the COVID-19 lockdown period (18.6%) compared to the combined control periods in 2018 and 2019 (23.2%, p = 0.027). This was mainly based on a reduced rate of preterm multiples during the lockdown period (12.8% vs. 28.9%, p = 0.003) followed by a reversed effect showing a threefold rise in multiple births after the lockdown. In singletons, the rate of preterm births was not reduced during the lockdown. The rate of stillbirths was not affected by the lockdown measures as compared to the control period (0.9% vs. 0.7%, p = 0.750). CONCLUSION: During the COVID-19 pandemic lockdown period, we found a reduced rate of preterm-born infants compared to a combined control period in the years 2018 and 2019 in our large tertiary University Center in Germany. Due to the predominant reduction in preterm multiples, we postulate that less physical activity might have led to the protective effect by lockdown measures.
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COVID-19 , Nacimiento Prematuro , Embarazo , Lactante , Femenino , Recién Nacido , Humanos , Recien Nacido Prematuro , Nacimiento Prematuro/epidemiología , COVID-19/epidemiología , COVID-19/prevención & control , Pandemias/prevención & control , Universidades , Control de Enfermedades Transmisibles , Mortinato/epidemiologíaRESUMEN
PURPOSE: There are different studies worldwide, which have shown a higher risk of mental disorders due to the COVID-19 pandemic. One aim of this study was to identify influencing factors of the psychological burden related to the COVID-19 pandemic and the impact on the development of postpartum depression. Further, the role of individual stress and coping strategies was analyzed in this context. MATERIALS AND METHODS: Between March and October 2020, 131 women in obstetric care at the LMU Clinic Munich completed a questionnaire at consecutive stages during their perinatal period. The times set for the questionnaire were before birth, 1 month, 2 months, and 6 months after birth. The questionnaire was designed to evaluate the psychological burden related to the COVID-19 pandemic. For this a modified version of the Stress and coping inventory (SCI) and the Edinburgh Postnatal Depression Scale (EPDS) was used. RESULTS: We could show that the psychological burden related to the COVID-19 pandemic influenced the EPDS score 1, 2 and 6 months after birth. In addition, the prenatal stress and individual coping strategies affected the EPDS and the burden related to the COVID-19 pandemic before and after birth significantly. CONCLUSION: An association of the psychological burden related to the COVID-19 pandemic with the risk of developing postpartum depressive symptoms could be shown in this study. In this context, the separation of the partner and the family was recognized as an important factor. Furthermore, the SCI was identified as an effective screening instrument for identifying mothers with an increased risk of postpartum depression. Hereby allowing primary prevention by early intervention or secondary prevention by early diagnosis.
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COVID-19 , Depresión Posparto , Embarazo , Femenino , Humanos , Depresión Posparto/diagnóstico , COVID-19/complicaciones , COVID-19/epidemiología , Depresión/epidemiología , Pandemias , Periodo Posparto/psicología , Adaptación Psicológica , Estrés Psicológico/complicacionesRESUMEN
Communicative impairments during adolescence pose a serious barrier to participation and personality development. The article summarizes relevant disorders of language and hearing in this vulnerable phase of life. A case study exemplifies challenges and potentials in the clinical practice with adolescent patients.
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Trastornos de la Comunicación , Trastornos de la Audición , Humanos , Adolescente , Lenguaje , Audición , Pruebas AuditivasRESUMEN
There are several open questions to be answered regarding the pathophysiology of the development of preeclampsia (PE). Numerous factors are involved in its genesis, such as defective placentation, vascular impairment, and an altered immune response. The activation of the adaptive and innate immune system represents an immunologic, particularity during PE. Proinflammatory cytokines are predominantly produced, whereas immune regulatory and immune suppressive factors are diminished in PE. In the present study, we focused on the recruitment of regulatory T cells (Tregs) which are key players in processes mediating immune tolerance. To identify Tregs in the decidua, an immunohistochemical staining of FoxP3 of 32 PE and 34 control placentas was performed. A clearly reduced number of FoxP3-positive cells in the decidua of preeclamptic women could be shown in our analysis (p = 0.036). Furthermore, CCL22, a well-known Treg chemoattractant, was immunohistochemically evaluated. Interestingly, CCL22 expression was increased at the maternal-fetal interface in PE-affected pregnancies (psyncytiotrophoblast = 0.035, pdecidua = 0.004). Therefore, the hypothesis that Tregs undergo apoptosis at the materno-fetal interface during PE was generated, and verified by FoxP3/TUNEL (TdT-mediated dUTP-biotin nick end labeling) staining. Galectin-2 (Gal-2), a member of the family of carbohydrate-binding proteins, which is known to be downregulated during PE, seems to play a pivotal role in T cell apoptosis. By performing a cell culture experiment with isolated Tregs, we could identify Gal-2 as a factor that seems to prevent the apoptosis of Tregs. Our findings point to a cascade of apoptosis of Tregs at the materno-fetal interface during PE. Gal-2 might be a potential therapeutic target in PE to regulate immune tolerance.
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Decidua/inmunología , Regulación hacia Abajo , Galectina 2/metabolismo , Preeclampsia/metabolismo , Linfocitos T Reguladores/citología , Adolescente , Adulto , Apoptosis , Estudios de Casos y Controles , Células Cultivadas , Quimiocina CCL22/metabolismo , Femenino , Factores de Transcripción Forkhead/metabolismo , Humanos , Edad Materna , Embarazo , Linfocitos T Reguladores/metabolismo , Regulación hacia Arriba , Adulto JovenRESUMEN
The aim of this study was to analyze the expression of peroxisome proliferator-activated receptor γ (PPARγ) and retinoid X receptor α (RxRα), a binding heterodimer playing a pivotal role in the successful trophoblast invasion, in the placental tissue of preeclamptic patients. Furthermore, we aimed to characterize a possible interaction between PPARγ and H3K4me3 (trimethylated lysine 4 of the histone H3), respectively H3K9ac (acetylated lysine 9 of the histone H3), to illuminate the role of histone modifications in a defective trophoblast invasion in preeclampsia (PE). Therefore, the expression of PPARγ and RxRα was analyzed in 26 PE and 25 control placentas by immunohistochemical peroxidase staining, as well as the co-expression with H3K4me3 and H3K9ac by double immunofluorescence staining. Further, the effect of a specific PPARγ-agonist (Ciglitazone) and PPARγ-antagonist (T0070907) on the histone modifications H3K9ac and H3K4me3 was analyzed in vitro. In PE placentas, we found a reduced expression of PPARγ and RxRα and a reduced co-expression with H3K4me3 and H3K9ac in the extravillous trophoblast (EVT). Furthermore, with the PPARγ-antagonist treated human villous trophoblast (HVT) cells and primary isolated EVT cells showed higher levels of the histone modification proteins whereas treatment with the PPARγ-agonist reduced respective histone modifications. Our results show that the stimulation of PPARγ-activity leads to a reduction of H3K4me3 and H3K9ac in trophoblast cells, but paradoxically decreases the nuclear PPARγ expression. As the importance of PPARγ, being involved in a successful trophoblast invasion has already been investigated, our results reveal a pathophysiologic connection between PPARγ and the epigenetic modulation via H3K4me3 and H3K9ac in PE.
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Epigénesis Genética , Histonas/genética , PPAR gamma/genética , Preeclampsia/genética , Receptor alfa X Retinoide/genética , Trofoblastos/metabolismo , Adulto , Benzamidas/farmacología , Estudios de Casos y Controles , Femenino , Histonas/metabolismo , Humanos , Metilación/efectos de los fármacos , PPAR gamma/agonistas , PPAR gamma/antagonistas & inhibidores , PPAR gamma/metabolismo , Preeclampsia/metabolismo , Preeclampsia/patología , Embarazo , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Piridinas/farmacología , Receptor alfa X Retinoide/metabolismo , Transducción de Señal , Tiazolidinedionas/farmacología , Trofoblastos/efectos de los fármacos , Trofoblastos/patologíaRESUMEN
Background: Data are lacking with concern to the prevalence and management of aspirin (ASA) hypersensitivity. Objective: To study the prevalence, different types of reactions, and implications for clinical management of ASA hypersensitivity in a cardiology practice. Methods: We conducted an electronic medical record review of 11,375 individuals, 5052 (44%) in the ambulatory setting, and 6323 (56%) admitted for percutaneous coronary intervention (PCI), from January 2012 to December 2013. Results: The prevalence of ASA hypersensitivity was 1.88% (n = 214). Skin reactions were the most common (40 [19%]), followed by angioedema (10 [4.6%]), respiratory (9 [4.2%]), and anaphylaxis (6 [2.8%]). No records were found for 74 patients (34.5%), and 69 patients (32.2%) were mistakenly labeled as allergic for having gastrointestinal symptoms. Of the 214 patients who had documented ASA hypersensitivity, 108 individuals (50.46%) had coronary artery disease. The medications at discharge were the following: ASA (30 [14%]), thienopyridine (48 [22%]), a combination of ASA and thienopyridine (13 [6%]), anticoagulation only (26 [12%]), and no antiplatelet (97 [43%]). Conclusion: ASA hypersensitivity is often not documented correctly or is often misdiagnosed or not appropriately managed. There is a need for improved management of ASA hypersensitivity, including appropriate referral for ASA desensitization and combating unnecessary avoidance in patients with intolerance due to adverse effects.
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Alérgenos/efectos adversos , Aspirina/efectos adversos , Enfermedad Coronaria/epidemiología , Hipersensibilidad a las Drogas/epidemiología , Intervención Coronaria Percutánea , Adulto , Anciano , Anciano de 80 o más Años , Alérgenos/inmunología , Aspirina/uso terapéutico , Enfermedad Coronaria/diagnóstico , Errores Diagnósticos/prevención & control , Hipersensibilidad a las Drogas/diagnóstico , Registros Electrónicos de Salud , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Estados Unidos/epidemiología , Adulto JovenRESUMEN
Infants exploit acoustic boundaries to perceptually organize phrases in speech. This prosodic parsing ability is well-attested and is a cornerstone to the development of speech perception and grammar. However, infants also receive linguistic input in child songs. This study provides evidence that infants parse songs into meaningful phrasal units and replicates previous research for speech. Six-month-old Dutch infants (n = 80) were tested in the song or speech modality in the head-turn preference procedure. First, infants were familiarized to two versions of the same word sequence: One version represented a well-formed unit, and the other contained a phrase boundary halfway through. At test, infants were presented two passages, each containing one version of the familiarized sequence. The results for speech replicated the previously observed preference for the passage containing the well-formed sequence, but only in a more fine-grained analysis. The preference for well-formed phrases was also observed in the song modality, indicating that infants recognize phrase structure in song. There were acoustic differences between stimuli of the current and previous studies, suggesting that infants are flexible in their processing of boundary cues while also providing a possible explanation for differences in effect sizes.
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Desarrollo Infantil/fisiología , Conducta de Elección/fisiología , Conducta del Lactante/fisiología , Reconocimiento en Psicología/fisiología , Canto , Percepción del Habla/fisiología , Femenino , Humanos , Lactante , MasculinoRESUMEN
Individuals with Down syndrome (DS) experience deficits across all domains of adaptive functioning, however little is known about the emergence and age-related changes of these impairments compared to other neurogenetic disorders with similar intellectual disability impairments, such as fragile X syndrome (FXS). Adaptive behavior is key for optimal functioning in these populations. Participants aged 5-45 months comprised three age-matched groups, DS (n = 64), FXS (n = 69), and typically developing controls (TD; n = 69). Adaptive behavior was measured on the Vineland Adaptive Behavior Scales-II. Regressions were used to examine adaptive behavior in a cross-sectional design across age. DS infants and toddlers evidenced deficits across all areas of adaptive behaviors compared to the age-matched TD group, with clear impairments present in the first year of life. Motor skills were the area of greatest weakness in children with DS with significant impairment evident at 12 months of age that remained low through 3 years. Compared to age-matched children with FXS, children with DS showed initially lower standard scores at 12 months of age, but slower declines in standard scores across age, resulting in less impaired functioning at 36 months. This is the first study to compare adaptive behavior in infants and toddlers with DS to FXS, and demonstrate the phenotypic specificity of adaptive profiles in this diagnostic group. These findings provide evidence that adaptive behavior should be a major target of intervention in children with FXS and DS, and that these differences are potentially driven by unique etiologies attributable to each disorder.
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Adaptación Psicológica/fisiología , Síndrome de Down/psicología , Síndrome del Cromosoma X Frágil/psicología , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Discapacidad Intelectual/genética , Discapacidad Intelectual/psicología , MasculinoRESUMEN
The present study examines verbal working memory over time in boys with fragile X syndrome (FXS) compared to nonverbal mental-age (NVMA) matched, typically developing (TD) boys. Concomitantly, the relationship between cortisol-a physiological marker for stress-and verbal working memory performance over time is examined to understand the role of physiological mechanisms in cognitive development in FXS. Participants were assessed between one and three times over a 2-year time frame using two verbal working memory tests that differ in complexity: memory for words and auditory working memory with salivary cortisol collected at the beginning and end of each assessment. Multilevel modeling results indicate specific deficits over time on the memory for words task in boys with FXS compared to TD controls that is exacerbated by elevated baseline cortisol. Similar increasing rates of growth over time were observed for boys with FXS and TD controls on the more complex auditory working memory task, but only boys with FXS displayed an association of increased baseline cortisol and lower performance. This study highlights the benefit of investigations of how dynamic biological and cognitive factors interact and influence cognitive development over time.
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Cognición/fisiología , Síndrome del Cromosoma X Frágil/psicología , Sistema Hipotálamo-Hipofisario/fisiopatología , Memoria a Corto Plazo/fisiología , Sistema Hipófiso-Suprarrenal/fisiopatología , Adolescente , Niño , Desarrollo Infantil/fisiología , Comprensión/fisiología , Síndrome del Cromosoma X Frágil/fisiopatología , Humanos , Inteligencia/fisiología , Masculino , Pruebas NeuropsicológicasRESUMEN
This study examined the utility of eye tracking research technology to measure speech comprehension in 14 young boys with autism spectrum disorders (ASD) and 15 developmentally matched boys with typical development. Using eye tracking research technology, children were tested on individualized sets of known and unknown words, identified based on their performance on the Peabody Picture Vocabulary Test. Children in both groups spent a significantly longer amount of time looking at the target picture when previous testing indicated the word was known (known condition). Children with ASD spent similar amounts of time looking at the target and non-target pictures when previous testing indicated the word was unknown (unknown condition). However, children with typical development looked longer at the target pictures in the unknown condition as well, potentially suggesting emergent vocabulary knowledge.
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Trastornos Generalizados del Desarrollo Infantil , Comprensión , Medidas del Movimiento Ocular , Pruebas del Lenguaje , Percepción del Habla , Estudios de Casos y Controles , Niño , Preescolar , Movimientos Oculares , Humanos , Masculino , VocabularioRESUMEN
The free acidity of bracatinga honeydew honey (BHH) was monthly monitored over short-term storage (four months) until all the samples exceeded 50 mEq kg-1 - the maximum value allowed by the international regulatory honey standards. In addition, BHH quality was also investigated through moisture content, water activity, electrical conductivity, pH, 5-hydroxymethylfurfural, and aliphatic organic acids (AOA) analyses. According to our results, most of the parameters investigated presented significant differences during the short storage period studied; however, the quality parameters (except acidity) did not exceed the limits established by the international regulatory honey standards. Therefore, the high free acidity observed in the BHH samples did not affect its quality. Moreover, the total AOA concentration decreased as the free acidity increased, indicating that the high acidity is not related to postharvest fermentation. Since all BHH samples exceeded the established limit of 50 mEq kg-1 after four months of storage (up to 62.7 mEq kg-1), this data corroborates that this type of honey does not comply with the regulatory honey standards, which represents an obstacle to its commercialization. Therefore, our data reinforce the need for a future reassessment of the international regulatory honey standards regarding the free acidity limit for BHH. In this sense, taking together all the studies developed by our research group since 2014, a new free acidity value of 65 mEq kg-1 is proposed, which may discourage fraud practices and negative impacts on the BHH beekeeping chain.
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Miel , Miel/análisis , Ácidos/análisis , Ácidos Grasos , Conductividad Eléctrica , Agua/análisisRESUMEN
The insulin signaling pathway is the primary signaling pathway coupling growth with nutritional condition in all animals. Sensitivity to circulating levels of insulin has been shown to regulate the growth of specific traits in a dose-dependent manner in response to environmental conditions in a diversity of insect species. Alternative phenotypes in insects manifest in a variety of morphologies such as the sexually dimorphic and male dimorphic horned beetles. Large males of the sexually dimorphic dung beetle Onthophagus nigriventris develop a thoracic horn up to twice the length of the body whereas small males and females never develop this horn. The regulation of this dimorphism is known to be nutrition dependent for males. We focused on the insulin signaling pathway as a potential regulator of this dimorphism. We sequenced a full-length gene transcript encoding the O. nigriventris insulin receptor (OnInR), which is the receptor for circulating insulin and insulin-like peptides in animals. We show that the predicted OnInR protein is similar in overall amino acid identity to other insulin receptors (InRs) and is most closely related phylogenetically to insect InRs. Expression of the OnInR transcript was found during development of imaginal tissues in both males and females. However, expression of OnInR in the region where a horn would grow of small males and female was significantly higher than in the horn tissues of large males at the end of growth. This variation in OnInR expression between sexes and morphs indicates a role for the InR in polymorphic horn development.
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Escarabajos/metabolismo , Receptor de Insulina/metabolismo , Animales , Clonación Molecular , Escarabajos/genética , Escarabajos/crecimiento & desarrollo , ADN Complementario , Femenino , Regulación de la Expresión Génica , Larva/genética , Larva/metabolismo , Masculino , Datos de Secuencia Molecular , Especificidad de Órganos , Filogenia , Receptor de Insulina/genética , Análisis de Secuencia de ADN , Análisis de Secuencia de Proteína , Homología de SecuenciaRESUMEN
Preeclampsia (PE) is a severe pregnancy disorder with a pathophysiology not yet completely understood and without curative therapy. The histone modifications H3K4me3 and H3K9ac, as well as galectin-2 (Gal-2), are known to be decreased in PE. To gain a better understanding of the development of PE, the influence of Gal-2 on histone modification in trophoblasts and in syncytialisation was investigated. Immunohistochemical stains of 13 PE and 13 control placentas were correlated, followed by cell culture experiments. An analysis of H3K4me3 and H3K9ac was conducted, as well as cell fusion staining with E-cadherin and ß-catenin-both after incubation with Gal-2. The expression of H3K4me3 and H3K9ac correlated significantly with the expression of Gal-2. Furthermore, we detected an increase in H3K4me3 and H3K9ac after the addition of Gal-2 to BeWo/HVT cells. Moreover, there was increased fusion of HVT cells after incubation with Gal-2. Gal-2 is associated with the histone modifications H3K4me3 and H3K9ac in trophoblasts. Furthermore, syncytialisation increased after incubation with Gal-2. Therefore, we postulate that Gal-2 stimulates syncytialisation, possibly mediated by H3K4me3 and H3K9ac. Since Gal-2, as well as H3K4me3 and H3K9ac, are decreased in PE, the induction of Gal-2 might be a promising therapeutic target.
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Galectina 2 , Histonas , Preeclampsia , Trofoblastos , Fusión Celular , Femenino , Galectina 2/metabolismo , Histonas/metabolismo , Humanos , Placenta/metabolismo , Preeclampsia/metabolismo , Embarazo , Trofoblastos/metabolismoRESUMEN
PURPOSE: Endometrial cancer (EC) is one of the most common gynaecologic malignancies. Tumor infiltrating regulatory T-cells (Treg) have been reported to have a prognostic impact in many malignancies. Immunotherapeutic strategies are gaining interest for advanced and recurrent EC cases, where treatment options are rare. Our study was aimed at determining the value of Treg in EC progression. METHODS: EC specimens from 275 patients and 28 controls were screened immunohistochemically for the presence of Treg represented by FoxP3. Correlations with clinicopathological and survival parameters were performed. Functional assays were performed using EC cell lines Ishikawa + and RL95-2 after co-culturing with isolated CD4 + CD25 + CD127dim Treg. To assess the influence of EC on the composition of peripheral blood mononuclear cells (PBMC), flow cytometric analyses were performed. RESULTS: We found that an increased infiltration of Treg was associated with high grades and a reduced overall survival. Treg were almost absent in endometrium tissues from healthy control patients. Co-culture of tumor cells with CD4 + CD25 + CD127dim Treg led to functional changes: enhanced invasion, migration and viability indicated that increased levels of Treg in the tumor microenvironment may promote tumor growth. Furthermore, we found that the presence of EC cells led to phenotypic changes in PBMC, showing significantly increased levels of CD25 and FoxP3. CONCLUSION: Our results indicate that the presence of Treg in the EC tumor environment is associated with a poorer outcome. A remarkable impact of Treg on tumor cell behaviour and vice versa of tumor cells on PBMC subpopulations support this notion mechanistically. Our findings provide a basis for focusing on Treg as potential future therapeutic targets in EC.
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Neoplasias Endometriales , Linfocitos T Reguladores , Femenino , Humanos , Linfocitos T Reguladores/metabolismo , Linfocitos T Reguladores/patología , Leucocitos Mononucleares/metabolismo , Factores de Transcripción Forkhead/metabolismo , Subunidad alfa del Receptor de Interleucina-2/metabolismo , Neoplasias Endometriales/metabolismo , Citometría de Flujo , Microambiente TumoralRESUMEN
Rhyme perception is an important predictor for future literacy. Assessing rhyme abilities, however, commonly requires children to make explicit rhyme judgements on single words. Here we explored whether infants already implicitly process rhymes in natural rhyming contexts (child songs) and whether this response correlates with later vocabulary size. In a passive listening ERP study, 10.5 month-old Dutch infants were exposed to rhyming and non-rhyming child songs. Two types of rhyme effects were analysed: (1) ERPs elicited by the first rhyme occurring in each song (rhyme sensitivity) and (2) ERPs elicited by rhymes repeating after the first rhyme in each song (rhyme repetition). Only for the latter a tentative negativity for rhymes from 0 to 200 ms after the onset of the rhyme word was found. This rhyme repetition effect correlated with productive vocabulary at 18 months-old, but not with any other vocabulary measure (perception at 10.5 or 18 months-old). While awaiting future replication, the study indicates precursors of phonological awareness already during infancy and with ecologically valid linguistic stimuli.
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BACKROUND: Alterations of DNA accessibility and chromatin structure are associated with diseases. We aimed to investigate epigenetic modifications in preeclampsia (PE), a pregnancy-associated hypertonic disease. Specifically, we addressed histone modification proteins H3K9ac (acetylated lysine 9 of the histone H3) and H3K4me3 (trimethylated lysine 4 of the histone H3) in PE. METHODS: We analyzed expression of histone proteins H3K4me3 and H3K9ac in 32 PE and 32 control placentas by immunohistochemistry. Further, we carried out confirmatory western blot analysis of respective proteins in 6 representative placentas. We then applied regression models with additional adjustment for potential confounders. RESULTS: Expression of H3K4me3 and H3K9ac is reduced in PE placentas as demonstrated by immunohistochemical stainings and western blot. There are no differences between female and male fetuses in the presence of these histone modifications. H3K4me3 positively correlated with maternal age (râ¯=â¯0.444, pâ¯=â¯0.034). CONCLUSION: Expression of the placental histone proteins H3K4me3 and H3K9ac is reduced in PE, and independent of fetal gender. Our study underlines the involvement of epigenetic changes in the placenta of women suffering from PE.
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Epigénesis Genética/inmunología , Histonas/genética , Preeclampsia/genética , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Feto/inmunología , Código de Histonas , Histonas/inmunología , Humanos , Masculino , Edad Materna , Placenta/inmunología , Placenta/patología , Preeclampsia/inmunología , Preeclampsia/patología , Embarazo , Factores de Riesgo , Factores Sexuales , Adulto JovenRESUMEN
BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.
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BACKGROUND: Individuals with Down syndrome (DS) are at high risk for autism spectrum disorder (ASD) with ~20% of individuals meeting diagnostic criteria for ASD. Despite the high risk, there is no research documenting early signs of ASD in infants with DS or potential prodromal ASD-associated behaviors. AIM: This preliminary case-control study described ASD-associated behaviors in infants with DS contrasted to typically developing (TD) infants. PATIENTS AND METHODS: The Autism Observation Scale for Infants (AOSI) was used to describe ASD-related behaviors in 18 infants with DS (7-18 months) and 18 TD infants (9-14 months). RESULTS: Thirty nine percent (7 out of 18) of infants with DS in our sample were designated "at risk" for ASD on the AOSI with 100% of infants with DS demonstrating at least one feature of ASD. In contrast, only 11% (2 out of 18) of TD infants were designated "at risk" for ASD on the AOSI. Social and communication impairments appear to represent early signs of elevated ASD-associated behavior in infants with DS. CONCLUSIONS: Early signs of ASD-associated behavior appear present and detectable in infants with DS. These early signs mirror findings of other populations at risk for ASD with social communication as the primary behavioral impairment to signal elevated risk for the emergence of ASD. This study contributes to the refinement of the DS behavioral phenotype and identifies important next steps to help improve the identification, diagnosis, and treatment of ASD in DS.
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Purpose This study examines differences in the communicative use of triadic eye gaze (TEG) during a communicative interaction in 2 neurodevelopmental disorders: Down syndrome (DS) and autism spectrum disorders (ASD), and a 3rd group of varying disabilities associated with intellectual and developmental disabilities (IDDs). Also, the relationship between TEG use and language abilities was explored. Method Participants were 45 children, 15 in each group. The frequency of TEG was coded during a scripted communication assessment when children were between 3 and 6 years of age (37-73 months). Receptive and expressive language was measured using raw scores from the Mullen Scales of Early Learning concurrently between 3 and 6 years and again 2 years later when children were between 5 and 8 years (59-92 months). Results Descriptively, children with DS had a higher frequency of TEG than children with ASD and IDD, but significant differences were only observed between children with DS and ASD. More TEG at Time 1 in children with DS was associated with higher receptive language at Time 1 and higher expressive language at Time 2. For children with ASD, a trend for a positive association between TEG at Time 1 and language abilities at Time 2 was observed. No significant associations were observed for children with IDD. Conclusion Children with DS used TEG significantly more than children with ASD in this sample. Identifying strengths and weaknesses in TEG use is important because providing caregiver training to facilitate TEG can result in increased opportunities to respond with language models and promote language development.
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Trastorno del Espectro Autista/psicología , Lenguaje Infantil , Comunicación , Síndrome de Down/psicología , Fijación Ocular , Trastorno del Espectro Autista/fisiopatología , Niño , Preescolar , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/psicología , Síndrome de Down/fisiopatología , Femenino , Humanos , Discapacidad Intelectual/fisiopatología , Discapacidad Intelectual/psicología , MasculinoRESUMEN
We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk was negatively associated with IQ and adaptive behaviors and positively associated with certain types of maladaptive behaviors. Clinical implications for screening and therapeutic purposes are discussed.