CITAS BIBLIOGRÁFICAS
REFERENCES

Noviembre - Diciembre 2018
November - Dicember 2018


Si desea consultar citas de rastreos anteriores, pulse aquí
If you wish to find citations from previous searches, please click

Aging - Envejecimiento

TÍTULO / TITLE:   - Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.

Enlace al Resumen

REVISTA / JOURNAL:    - JAMA. Free access to the article (immediately).

Enlace a la Editora de la Revista http://jama.ama-assn.org/search.dtl

AUTORES / AUTHORS: - Hithersay R; ... Strydom A

INSTITUCIÓN / INSTITUTION: - Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, England.; London Down Syndrome Consortium, London, England. 

RESUMEN / SUMMARY: - Importance: This work quantifies the fatal burden of dementia associated with Alzheimer disease in individuals with Down syndrome (DS). Objective: To explore the association of dementia associated with Alzheimer disease with mortality and examine factors associated with dementia in adults with DS. Design, Settings and Participants: Prospective longitudinal study in a community setting in England. Data collection began March 29, 2012. Cases were censored on December 13, 2017. The potential sample consisted of all adults 36 years and older from the London Down Syndrome Consortium cohort with 2 data times and dementia status recorded (N = 300); 6 withdrew from study, 28 were lost to follow-up, and 55 had a single data collection point at time of analysis. The final sample consisted of 211 participants, with 503.92 person-years’ follow-up. Exposures: Dementia status, age, sex, APOE genotype, level of intellectual disability, health variables, and living situation. Main Outcomes and Measures: Crude mortality rates, time to death, and time to dementia diagnosis with proportional hazards of predictors. Results: Of the 211 participants, 96 were women (45.5%) and 66 (31.3%) had a clinical dementia diagnosis. Twenty-seven participants (11 female; mean age at death, 56.74 years) died during the study period. Seventy percent had dementia. Crude mortality rates for individuals with dementia (1191.85 deaths per 10000 person-years; 95% CI, 1168.49-1215.21) were 5 times higher than for those without (232.22 deaths per 10000 person-years; 95% CI, 227.67-236.77). For those with dementia, APOE epsilon4 carriers had a 7-fold increased risk of death (hazard ratio [HR], 6.91; 95% CI, 1.756-27.195). For those without dementia, epilepsy with onset after age 36 years was associated with mortality (HR, 9.66; 95% CI, 1.59-58.56). APOE epsilon4 carriers (HR, 4.91; 95% CI, 2.53-9.56), adults with early-onset epilepsy (HR, 3.61; 95% CI, 1.12-11.60), multiple health comorbidities (HR, 1.956; 95%

TÍTULO / TITLE:   - Difficulties of diagnosing and managing dementia in people with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Br J Psychiatry. 2018 Nov;213(5):668-669. doi: 10.1192/bjp.2018.199.

Enlace a la Editora de la Revista http://dx.doi.org/10.1192/bjp.2018.199

AUTORES / AUTHORS: - Smith D; Chicoine B

INSTITUCIÓN / INSTITUTION: - Physician, Down Syndrome Clinic of Wisconsin 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Prevalence and Severity of Alzheimer Disease in Individuals With Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - JAMA. Free access to the article

Enlace a la Editora de la Revista http://jama.ama-assn.org/search.dtl

AUTORES / AUTHORS: - Rafii MS; Santoro SL

INSTITUCIÓN / INSTITUTION: - Down Syndrome Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts. 

RESUMEN / SUMMARY: - JOURNAL: JAMA. Free access to the article (immediately). ●● Link the journal http://jama.ama-assn.org/search.dtl ●● Bibliographic Citation JAMA: <> Neurol. 2018 Nov 19. pii: 2714717. doi: 10.1001/jamaneurol.2018.3443. ●● Link to the complete text (free or ppv) 1001/jamaneurol.2018.3443

TÍTULO / TITLE:   - Comparison of longitudinal Abeta in nondemented elderly and Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Neurobiol Aging. 2019 Jan;73:171-176. doi: 10.1016/j.neurobiolaging.2018.09.030. Epub 2018 Sep 27.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.030

AUTORES / AUTHORS: - Tudorascu DL;... Cohen AD;

INSTITUCIÓN / INSTITUTION: - Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, PA, USA.  

RESUMEN / SUMMARY: - Down syndrome (DS) predisposes individuals to early Alzheimer’s disease (AD). Using Pittsburgh Compound B ([(11)C]PiB), a pattern of striatal amyloid beta (Abeta) that is elevated relative to neocortical binding has been reported, similar to that of nondemented autosomal dominant AD mutation carriers. However, it is not known whether changes in striatal and neocortical [(11)C]PiB retention differ over time in a nondemented DS population when compared to changes in a nondemented elderly (NDE) population. The purpose of this work was to assess longitudinal changes in trajectories of Abeta in a nondemented DS compared to an NDE cohort. The regional trajectories for anterior ventral striatum (AVS), frontal cortex, and precuneus [(11)C]PiB retention were explored over time using linear mixed effects models with fixed effects of time, cohort, and time-by-cohort interactions and subject as random effects. Significant differences between DS and NDE cohort trajectories for all 3 region of interests were observed (p < 0.05), with the DS cohort showing a faster accumulation in the AVS and slower accumulation in the frontal cortex and precuneus compared to the NDE cohort. These data add to the previously reported distinct pattern of early striatal deposition not commonly seen in sporadic AD by demonstrating that individuals with DS may also accumulate Abeta at a rate faster in the AVS when compared to NDE subjects.

TÍTULO / TITLE:   - Restoring microglial and astroglial homeostasis using DNA immunization in a Down Syndrome mouse model.

Enlace al Resumen

REVISTA / JOURNAL:    - Brain Behav Immun. 2018 Oct 25. pii: S0889-1591(18)30744-X. doi: 10.1016/j.bbi.2018.10.004.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.bbi.2018.10.004

AUTORES / AUTHORS: - Illouz T; Okun E; et al.

INSTITUCIÓN / INSTITUTION: - The Leslie and Susan Gonda Multidisciplinary Brain Research Center, Bar-Ilan University, Ramat Gan, 5290002, Israel; The Mina and Everard Goodman faculty of Life sciences, Bar-Ilan University, Ramat Gan, 5290002, Israel; The Paul Feder Labo 

RESUMEN / SUMMARY: - Down Syndrome (DS), the most common cause of genetic intellectual disability, is characterized by over-expression of the APP and DYRK1A genes, located on the triplicated chromosome 21. This chromosomal abnormality leads to a cognitive decline mediated by Amyloid-beta (Abeta) overproduction and tau hyper-phosphorylation as early as the age of 40. In this study, we used the Ts65Dn mouse model of DS to evaluate the beneficial effect of a DNA vaccination against the Abeta1-11 fragment, in ameliorating Abeta-related neuropathology and rescue of cognitive and behavioral abilities. Anti-Abeta1-11 vaccination induced antibody production and facilitated clearance of soluble oligomers and small extracellular inclusions of Abeta from the hippocampus and cortex of Ts65Dn mice. This was correlated with reduced neurodegeneration and restoration of the homeostatic phenotype of microglial and astroglial cells. Vaccinated Ts65Dn mice performed better in spatial-learning tasks, exhibited reduced motor hyperactivity typical for this strain, and restored short-term memory abilities. Our findings support the hypothesis that DS individuals may benefit from active immunotherapy against Abeta from a young age by slowing the progression of dementia.

TÍTULO / TITLE:   - Outcomes for Hospitalized Older Adults with Down Syndrome in the United States.

Enlace al Resumen

REVISTA / JOURNAL:    - J Alzheimers Dis. 2018;66(1):377-386. doi: 10.3233/JAD-171067.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-171067

AUTORES / AUTHORS: - Mendiratta P; et al.

INSTITUCIÓN / INSTITUTION: - Department of Geriatrics, College of Medicine-University of Arkansas Medical Sciences, Little Rock, AR, USA. 

RESUMEN / SUMMARY: - BACKGROUND: Patients with Down syndrome (DS) often survive into adulthood. Relatively little information is currently available regarding hospitalization outcomes among mature, older adults with DS. OBJECTIVE: To identify risk factors associated with hospital mortality rates and increased costs for hospitalized older adults with DS. METHODS: Data on hospitalized older adults with DS (>/=65 years) were identified from the Nationwide Inpatient Sample database (6) from 2002 through 2012. Multivariate analyses were performed to evaluate risk factors associated with hospital mortality and hospitalization cost in these patients. RESULTS: A total of 2,134 older adults with DS were identified. A temporal increase over the 11-year period was observed in the number of older adults with DS who were hospitalized (trend p < 0.0001). However, the hospital mortality rate and post-hospital discharge to skilled nursing facilities have decreased during the same time period. Risk factors associated with increased hospital mortality included advanced age (70-79 years), female gender, admissions in the western United States, and presence of comorbid conditions (ischemic heart disease, Alzheimer’s disease, and cerebrovascular accident). The mean cost was $18,241 (SD $56,105) over the 11-year period. However, no significant temporal changes in costs were noted (trend p = 0.14). CONCLUSIONS: The number of hospitalized elderly Americans with DS has increased over the 11-year period. However, hospital mortality and discharge to skilled nursing facilities have decreased during the same time period. Several demographic and co-morbid factors are associated with increased mortality. No significant differences in temporal trends in costs were noted.

TÍTULO / TITLE:   - Prevalence of Sleep Disorders in Adults With Down Syndrome: A Comparative Study of Self-Reported, Actigraphic, and Polysomnographic Findings.

Enlace al Resumen

REVISTA / JOURNAL:    - J Clin Sleep Med. 2018 Oct 15;14(10):1725-1733. doi: 10.5664/jcsm.7382.

Enlace a la Editora de la Revista http://dx.doi.org/10.5664/jcsm.7382

AUTORES / AUTHORS: - Multidisciplinary Sleep Unit, Respiratory Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Espaa.; Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona. Espaa

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - STUDY OBJECTIVES: Sleep problems are often undetected in adults with Down syndrome (DS). Our objective was to determine the prevalence of sleep disorders in adults with DS through self-reported and objective sleep measures. METHODS: We performed a community-based cross-sectional study of 54 adults with DS not referred for sleep disorders. Two polysomnography (PSG) sleep studies were performed. Sleep quality was evaluated using the Pittsburgh Sleep Quality Index (PSQI); daytime sleepiness was evaluated using the Epworth Sleepiness Scale (ESS) and the risk for the sleep apnea syndrome (OSA) was identified using the Berlin Questionnaire (BQ). Participants’ sleep/wake pattern was assessed from sleep diaries and by wrist actigraphy. PSQI, ESS, and PSG measures were compared with 35 sex-, age-, and body mass index-matched patients in the control groups. RESULTS: In PSG measures, adults with DS showed lower sleep efficiency (69 +/- 17.7 versus 81.6 +/- 11; P < .001), less rapid eye movement sleep (9.4 +/- 5.8 versus 19.4 +/- 5.1; P < .001), a higher prevalence of OSA (78% versus 14%; P < .001), and a higher apnea-hypopnea index (23.5 +/- 24.5 versus 3.8 +/- 10.5; P < .001) than patients in the control group. In the DS group, the questionnaires (mean PSQI 3.7 +/- 2.9; mean ESS 6.3 +/- 4.5 and mean BQ 1 +/- 0) did not reflect the sleep disturbances detected on the PSG. Actigraphy data recorded daytime sleep that was not self-reported (118.2 +/- 104.2 minutes). CONCLUSIONS: Adults with DS show severe sleep disruption and a high prevalence of OSA, undetected by self-reported sleep measures. Actigraphy, PSG, and validated simplified devices for screening OSA should be routinely recommended for this population because treatment of sleep disorders can contribute to healthy aging.

TÍTULO / TITLE:   - The validity and reliability of the CAMDEX-DS for assessing dementia in adults with Down syndrome in Brazil.

Enlace al Resumen

REVISTA / JOURNAL:    - Braz J Psychiatr. 2018 Oct 22. pii: S1516-44462018005008103. doi: 10.1590/1516-4446-2018-0033.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/1516-4446-2018-0033

AUTORES / AUTHORS: - Fonseca LM; et al.

INSTITUCIÓN / INSTITUTION: - Programa Terceira Idade (PROTER), Departamento e Instituto de Psiquiatria, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo (USP), SP, Brazil. 

RESUMEN / SUMMARY: - Alzheimer’s disease occurs at a higher prevalence and an earlier age in individuals with Down syndrome (DS) than typically developing individuals. However, diagnosing dementia in individuals with intellectual disability remains a challenge due to pre-existing cognitive deficits. The aim of this study was to investigate the validity and reliability of the Brazilian version of the Cambridge Examination for Mental Disorders of Older People with Down’s syndrome and Others with Intellectual Disabilities (CAMDEX-DS) for individuals with DS. METHODS: Two psychiatrists, working independently, evaluated 92 adults with DS >/= 30 years of age. The concurrent validity of the CAMDEX-DS was analyzed in relation to the gold standard of established international criteria. In a subgroup of 20 subjects, the concurrent validity of the CAMDEX-DS was analyzed in relation to an independent objective assessment of cognitive decline over three years. We analyzed the inter-rater reliability of cognitive assessment. RESULTS: The diagnostic accuracy of the CAMDEX-DS compared to the gold standard was 96.7%. CAMDEX-DS-based diagnosis was considered consistent with cognitive decline. The probability of a participant with dementia having cognitive decline was 83%. Inter-rater reliability for the participant assessment was good, with a kappa of > 0.8 for 93% of the CAMDEX-DS items. CONCLUSION: The CAMDEX-DS can be considered the first valid and reliable instrument for evaluating dementia in adults with DS in Brazil. Its use in such individuals could improve clinical practice and research.

TÍTULO / TITLE:   - Intranasal rapamycin ameliorates Alzheimer-like cognitive decline in a mouse model of Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Transl Neurodegener. 2018 Nov 6;7:28. doi: 10.1186/s40035-018-0133-9. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s40035-018-0133-9

AUTORES / AUTHORS: - Tramutola A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Biochemical Sciences, Sapienza University of Rome, P.le Aldo Moro 5, 00185 Rome, Italy.grid.7841. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) individuals, by the age of 40s, are at increased risk to develop Alzheimer-like dementia, with deposition in brain of senile plaques and neurofibrillary tangles. Our laboratory recently demonstrated the disturbance of PI3K/AKT/mTOR axis in DS brain, prior and after the development of Alzheimer Disease (AD). The aberrant modulation of the mTOR signalling in DS and AD age-related cognitive decline affects crucial neuronal pathways, including insulin signaling and autophagy, involved in pathology onset and progression. Within this context, the therapeutic use of mTOR-inhibitors may prevent/attenuate the neurodegenerative phenomena. By our work we aimed to rescue mTOR signalling in DS mice by a novel rapamycin intranasal administration protocol (InRapa) that maximizes brain delivery and reduce systemic side effects. Methods: Ts65Dn mice were administered with InRapa for 12 weeks, starting at 6 months of age demonstrating, at the end of the treatment by radial arms maze and novel object recognition testing, rescued cognition. Results: The analysis of mTOR signalling, after InRapa, demonstrated in Ts65Dn mice hippocampus the inhibition of mTOR (reduced to physiological levels), which led, through the rescue of autophagy and insulin signalling, to reduced APP levels, APP processing and APP metabolites production, as well as, to reduced tau hyperphosphorylation. In addition, a reduction of oxidative stress markers was also observed. Discussion: These findings demonstrate that chronic InRapa administration is able to exert a neuroprotective effect on Ts65Dn hippocampus by reducing AD pathological hallmarks and by restoring protein homeostasis, thus ultimately resulting in improved cognition. Results are discussed in term of a potential novel targeted therapeutic approach to reduce cognitive decline and AD-like neuropathology in DS individuals.

Cardiology - Cardiología

TÍTULO / TITLE:   - Relationships of Body Composition to Cardiac Structure and Function in Adolescents With Down Syndrome are Different than in Adolescents Without Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Cardiol. 2018 Nov 1. pii: 10.1007/s00246-018-2014-5. doi: 10.1007/s00246-018-2014-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00246-018-2014-5

AUTORES / AUTHORS: - Kelly A; et al.

INSTITUCIÓN / INSTITUTION: - Division of Endocrinology & Diabetes, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA. 

RESUMEN / SUMMARY: - Median survival in Down syndrome (DS) is 60 years, but cardiovascular disease risk and its markers such as left ventricular mass (LVM) have received limited attention. In youth, LVM is typically scaled to height(2.7) as a surrogate for lean body mass (LBM), the strongest predictor of LVM, but whether this algorithm applies to DS, a condition which features short stature, is unknown. To examine the relationships of LVM and function with height, LBM, and moderate-to-vigorous physical activity(MVPA) in DS, DS youth aged 10-20 years, and age-, sex-, BMI-, race-matched nonDS controls underwent echocardiography for LVM, ejection fraction (EF), and left ventricular diastolic function (measured as E/E’); dual-energy X-ray absorptiometry (DXA)-measured LBM; accelerometry for MVPA. (DS vs. nonDS median [min-max]): DS had lower height (cm) (144.5 [116.7-170.3] vs. 163.3 [134.8-186.7]; p < 0.0001); LBM (kg) (33.48 [14.5-62.3] vs 41.8 [18.07-72.46], p < 0.0001); and LVM (g) (68.3 [32.1-135] vs 94.0 [43.9-164.6], p < 0.0001); similar EF (%) (65 [54-77] vs 64 [53-77], p = 0.59); and higher E/E’ (8.41 [5.54-21.4] vs 5.81 [3.44-9.56], p < 0.0001). In height(2.7)-adjusted models, LVM was lower in DS (beta = - 7.7, p = 0.02). With adjustment for LBM, LVM was even lower in DS (beta = - 15.1, p < 0.0001), a finding not explained by MVPA. E/E’ remained higher in DS after adjustment for age, height, HR, SBP, and BMI (beta = 2.6, p < 0.0001). DS was associated with stiffer left ventricles and lower LVM, the latter magnified with LBM adjustment. Scaling to height(2.7), the traditional approach for assessing LVM in youth, may underestimate LVM differences in DS. Whether lower LVM and diastolic function are intrinsic to DS, pathologic, or protective remains unknown. Clinical Trial Registration: NCT01821300.

TÍTULO / TITLE:   - In Utero Diagnoses of Strikingly Similar Presentations of Complete Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant for Trisomy 21.

Enlace al Resumen

REVISTA / JOURNAL:    - Case Rep Pediatr. 2018 Oct 17;2018:6215675. doi: 10.1155/2018/6215675. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2018/6215675

AUTORES / AUTHORS: - Ling D, Dayan JG

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500-750 live births. The prevalence of DS has increased over the past two decades, correlating with a rise in the proportion of pregnancies complicated by advanced maternal age. There is also a correlation between advanced maternal age and dizygotic twinning rates. There is an increased risk of at least one twin being affected in dizygotic pregnancies compared to singletons. However, despite this greater relative risk, reports of concordance of DS in both dizygotic twins are very rare. Congenital heart disease (CHD) occurs in roughly 40% of individuals with DS, but there can be considerable phenotypic variation. The most common, atrioventricular septal defect accounts for only 40% of CHD seen in DS. There is also a higher incidence of CHD in twins, but also with a low incidence of concordance. There have been only five reported cases of concordant DS in dizygotic twins with confirmed chromosomal analyses; none of which describe concordant congenital heart disease. Here, we describe an unusual case of dizygotic twins of differing genders concordant for both Down syndrome and congenital heart disease of a strikingly similar presentation.

TÍTULO / TITLE:   - Fetal/Neonatal Pericardial Effusion in Down’s Syndrome: Case Report and Review of Literature.

Enlace al Resumen

REVISTA / JOURNAL:    - AJP Rep. 2018 Oct;8(4):e301-e306. doi: 10.1055/s-0038-1675337. Epub 2018 Oct 29.

Enlace a la Editora de la Revista http://dx.doi.org/10.1055/s-0038-1675337

AUTORES / AUTHORS: - Pharande P; et al.

INSTITUCIÓN / INSTITUTION: - Department of Neonatology, Nepean Hospital, Kingswood, New South Wales, Australia, School of Women’s and Children’s Health, Sydney Medical School Nepean, University of Sydney, Kingswood,  

RESUMEN / SUMMARY: - We report a preterm (35 (4/7) weeks) male neonate with Down’s syndrome (DS) diagnosed with isolated pericardial effusion (PE) at 20 weeks of gestation. He was born by precipitous delivery, needed no resuscitation and presented within first 24 hours of life with respiratory distress, anemia due to feto-maternal bleed, hypotension, hepatomegaly, and coagulopathy. Postnatal echocardiography confirmed a 5 mm rim of PE without tamponade, normal cardiac structure, and function. He was stabilized with ventilation, packed red cell, fresh frozen plasma, inotropes (dopamine, dobutamine, and adrenaline), and steroid (hydrocortisone). Subsequent evaluation confirmed hypothyroidism, transient myeloproliferative disorder (TMD), hepatic failure due to fibrosis/cirrhosis with portal hypertension, and steroid sensitive hypotension on two occasions possibly due to adrenal insufficiency. PE completely resolved over 2 weeks. In view of progressively worsening liver failure with ascites and portal hypertension, the family opted for palliation. Literature review has been discussed regarding perinatal onset of PE in DS.

Dental - Dental

TÍTULO / TITLE:   - Early-onset and persistent traumatic granuloma of the tongue (Riga-Fede disease) associated with neonatal teeth and Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Eur Acad Dermatol Venereol. 2018 Nov 13. doi: 10.1111/jdv.15336.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jdv.15336

AUTORES / AUTHORS: - Polat Ekinci A; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Riga-Fede disease (RFD) is a rare disorder characterized by an ulcerated lesion on the ventral surface of the tongue. It can be seen at any age and has also been referred to as traumatic granuloma of the tongue, eosinophilic granuloma of the tongue, and traumatic ulcerative granuloma with stromal eosinophilia. The sucking reflex, uncontrolled movements of the tongue, and macro-glossy are risk factors facilitating repetitive trauma produced by the teeth.

TÍTULO / TITLE:   - Early impacts of modified food consistency on oromotor outcomes in mouse models of Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Physiol Behav. 2018 Nov 26. pii: S0031-9384(18)30367-6. doi: 10.1016/j.physbeh.2018.11.031.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.physbeh.2018.11.031

AUTORES / AUTHORS: - Glass TJ; et al.

INSTITUCIÓN / INSTITUTION: - Department of Surgery, University of Wisconsin, Madison, WI, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) in humans is associated with differences of the central nervous system and oromotor development. DS also increases risks for pediatric feeding challenges, which sometimes involve the use of altered food consistencies. Therefore, experimental food consistency paradigms are of interest to oromotor investigations in mouse models of Down syndrome (DS). The present work reports impacts of an altered food consistency paradigm on the Ts65Dn and Dp(16)1Yey mouse models of DS, and sibling control mice. At weaning, Ts65Dn, Dp(16)1Yey and respective controls were assigned to receive either a hard food or a soft food (eight experimental groups, n=8-10 per group). Two weeks later, mice were assessed for mastication speeds and then euthanized for muscle analysis. Soft food conditions were associated with significantly smaller weight gain (p=.003), significantly less volitional water intake through licking (p=.0004), and significant reductions in size of anterior digastric myofibers positive for myosin heavy chain isoform (MyHC) 2b (p=.049). Genotype was associated with significant differences in weight gain (p=.004), significant differences in mastication rate (p=.001), significant differences in a measure of anterior digastric muscle size (p=.03), and significant reductions in size of anterior digastric myofibers positive for MyHC 2a (p=.04). In multiple measures, the Ts65Dn model of DS was more affected than other genotype groups. Findings indicate a soft food consistency condition in mice is associated with significant reductions in weight gain and oromotor activity, and may impact digastric muscle. This suggests extended periods of food consistency modifications may have impacts that extend beyond their immediate roles in facilitating deglutition.

TÍTULO / TITLE:   - Changes in surface tension of saliva in Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Eur Rev Med Pharmacol Sci. 2018 Oct;22(19):6469-6474. doi: 10.26355/eurrev_201810_16060.

Enlace a la Editora de la Revista http://dx.doi.org/10.26355/eurrev_201810_16060

AUTORES / AUTHORS: - Kawai M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Clinical Physiology, Nagasaki University Graduate School of Biomedical Science, Nagasaki, Japan. 

RESUMEN / SUMMARY: - OBJECTIVE: Surface tension in saliva might contribute to the maintenance of upper airway patency. The present study aimed to determine whether salivary surface tension is altered in patients with Down syndrome who are predisposed to upper airway collapse. PATIENTS AND METHODS: We used the pull-off force technique to measure surface tension in samples (100 muL) of saliva collected from twenty-three male patients with Down syndrome and twenty-three healthy males (controls). p < 0.05 was considered to indicate significance. RESULTS: Salivary surface tension was significantly lower in the patients than in the controls (57.3 +/- 4.9 vs. 60.3 +/- 4.7 mN/m; p = 0.039). Age and surface tension positively correlated in the patients (p = 0.001). CONCLUSIONS: The lower surface tension of saliva in patients with Down syndrome might compensate for an anatomical predisposition towards upper airway collapsibility and other risk factors. The function of surface tension in saliva might be altered due to aging in such patients.

TÍTULO / TITLE:   - Parent’s attitudes and knowledge on oral health in a group of individual with Down syndrome in Turkey.

Enlace al Resumen

REVISTA / JOURNAL:    - J Pak Med Assoc. 2018 Sep;68(9):1368-1372.

Enlace a la Editora de la Revista

AUTORES / AUTHORS: - Kalyoncu IO; et al.

INSTITUCIÓN / INSTITUTION: - Pediatric Dentistry Department, School of Dentistry, Marmara University, Turkey. 

RESUMEN / SUMMARY: - To evaluate the knowledge and attitude of families having some Down syndrome patient about problems related to oral cavity and dental health issues. METHODS: The cross-sectional study was conducted at Marmara University, Faculty of Dentistry in July 2017. Families of individuals with Down Syndrome, who are members of the Turkish Down Syndrome Association, were included in the study. A self-generated questionnaire was used to collect information in 3 different sections through 43 questions related to patient’s socio-demographic and medical information, data on dental visit(s) and tooth-brushing. The questionnaire was sent to the families via the Internet. They were asked to return the completed questionnaires within a month. SPSS 22 was used to analyse data. RESULTS: Of the 103 families, 25(24.27%) had never taken their children to a dentist; 12(11.65 %) thought their children were too young, 6(5.82%) thought they would have difficulty in the dental environment, and 2(1.94%) could not find a suitable dentist. There was a statistically significant relationship between the oral and dental health and the tooth-brushing frequency (p<0.05). There was a statistically significant difference between the frequency of helping the children brush their teeth and the mean age (p<0.05). CONCLUSIONS: Parents of individuals with Down syndrome needed high-level information and guidance to take proper care of affected individuals.

TÍTULO / TITLE:   - Evaluation of Chemokines in the Gingival Crevicular Fluid of Children with Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Int J Clin Pediatr Dent. 2018 Jul-Aug;11(4):288-293. doi: 10.5005/jp-journals-10005-1528. Epub 2018

Enlace a la Editora de la Revista http://dx.doi.org/10.5005/jp-journals-10005-1528

AUTORES / AUTHORS: - Reddy VK; et al.

INSTITUCIÓN / INSTITUTION: - Reader, Department of Pedodontics, CKS Teja Institute of Dental Sciences & Research, Tirupati, Andhra Pradesh, India. 

RESUMEN / SUMMARY: - Aim: The goal of the study was to detect the presence of macrophage inflammatory protein (MIP)-1alpha and MIP-1beta and to estimate their levels in gingival crevicular fluid (GCF) of children with Down syndrome. Materials and methods: MIP-1alpha and MIP-1beta levels were estimated in GCF samples of 20 healthy and 20 Down syndrome individuals. Gingival status was assessed by measuring the gingival index (GI), plaque index (PI), clinical attachment level (CAL), and probing pocket depth (PPD).The GCF samples were obtained from the subjects and MIP-1alpha and MIP-1beta levels were quantified by enzyme-linked immunosorbent assay (ELISA). Results: The mean MIP-1alpha concentrations in healthy and Down syndrome individuals were 209 and 1411 pg/muL respectively, and MIP-1alpha levels were 342 and 1404 pg/muL respectively.The levels of MIP-1alpha and MIP-1beta in the GCF of subjects with Down syndrome were significantly higher than in the healthy individual, and statistically significant differences were present among the two groups. Conclusion: The GCF showed dynamic changes according to the severity of periodontal disease, and the levels of MIP-1alpha and MIP-1beta had a strong relationship with clinical parameters. The MIP-1alpha and MIP-1beta can therefore be considered as novel biomarkers in the biological mechanism underlying the patho-genesis of periodontal disease.

Dermatology - Dermatología

TÍTULO / TITLE:   - Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence.

Enlace al Resumen

REVISTA / JOURNAL:    - J Dtsch Dermatol Ges. 2018 Oct;16(10):1289-1295. doi: 10.1111/ddg.13665.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/ddg.13665

AUTORES / AUTHORS: - Folster-Holst R; et al.

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, Venereology and Allergology, Schleswig-Holstein University Medical Center, Kiel, Germany. 

RESUMEN / SUMMARY: - With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia. With an onset during the newborn period, the latter does not always progress to classic myeloid leukemia (transient myeloproliferative disorder). Skin manifestations in newborns include pustules/vesiculopustules. In individuals with DS, such lesions should not only prompt suspicion for typical neonatal rashes and infections but also for transient myeloproliferative disorder. However, most dermatoses are benign. They essentially comprise disorders of keratinization that present as xerosis, keratosis pilaris, lichenification, and ichthyosis vulgaris. Also typical but not specific is the four-finger palmar crease (simian crease). Patients frequently develop folliculitides, which - due to elastolysis - subsequently progress to anetoderma. The known immune disturbance in DS patients explains the occurrence of autoimmune diseases such as alopecia areata and vitiligo. Typical skin conditions associated with DS include elastosis perforans serpiginosa, syringomas, milia-like calcinosis cutis, and multiple eruptive dermatofibromas.

TÍTULO / TITLE:   - Early-onset and persistent traumatic granuloma of the tongue (Riga-Fede disease) associated with neonatal teeth and Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Eur Acad Dermatol Venereol. 2018 Nov 13. doi: 10.1111/jdv.15336.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jdv.15336

AUTORES / AUTHORS: - Polat Ekinci A; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Riga-Fede disease (RFD) is a rare disorder characterized by an ulcerated lesion on the ventral surface of the tongue. It can be seen at any age and has also been referred to as traumatic granuloma of the tongue, eosinophilic granuloma of the tongue, and traumatic ulcerative granuloma with stromal eosinophilia. The sucking reflex, uncontrolled movements of the tongue, and macro-glossy are risk factors facilitating repetitive trauma produced by the teeth.

TÍTULO / TITLE:   - Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects.

Enlace al Resumen

REVISTA / JOURNAL:    - Acta Derm Venereol. 2018 Nov 21. doi: 10.2340/00015555-3095.

Enlace a la Editora de la Revista http://dx.doi.org/10.2340/00015555-3095

AUTORES / AUTHORS: - Poizeau F; et al.

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, hopital Henri Mondor, Assistance Publique Hopitaux de Paris, 51 avenue du Marechal de Lattre de Tassigny, FR-94000 Creteil, France.  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Vesiculopapular eruption in an infant with trisomy 21.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Dermatol. 2018 Nov;35(6):831-832. doi: 10.1111/pde.13593.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/pde.13593

AUTORES / AUTHORS: - Chateau A et al

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, Duke University Medical Center, Durham, NC, USA. 

RESUMEN / SUMMARY: -

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Adult Head and Neck Health Care Needs for Individuals with Complex Chronic Conditions of Childhood.

Enlace al Resumen

REVISTA / JOURNAL:    - Med Clin North Am. 2018 Nov;102(6):1055-1061. doi: 10.1016/j.mcna.2018.06.007.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.mcna.2018.06.007

AUTORES / AUTHORS: - Mixter S; Stewart RW

INSTITUCIÓN / INSTITUTION: - Departments of Medicine and Pediatrics, Johns Hopkins University School of Medicine, 601 North Caroline Street, Suite 7143, Baltimore, MD 21287, USA.  

RESUMEN / SUMMARY: - Millions of adults in the United States are currently living with what is termed chronic childhood conditions-childhood-onset conditions, about which adult providers often receive minimal training-and another half million youths with special health care needs enter adulthood each year and will undergo transition from pediatric to adult care. Here, the authors review the important otolaryngologic manifestations of several of these chronic childhood conditions, including autism spectrum disorder, cerebral palsy, and Down syndrome, as well as the primary care providers’ role in caring for transitioning tracheostomy-dependent patients.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Relative accuracy of body adiposity index and relative fat mass in participants with and without down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Eur J Clin Nutr. 2018 Oct 18. pii: 10.1038/s41430-018-0351-3. doi: 10.1038/s41430-018-0351-3

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41430-018-0351-3

AUTORES / AUTHORS: - Fedewa MV; et al.

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology, The University of Alabama, Tuscaloosa, AL, USA. 

RESUMEN / SUMMARY: - BACKGROUND/OBJECTIVES: The body adiposity index (BAI) and relative fat mass (RFM) are anthropometric measures developed to estimate body composition (%Fat). There is limited research validating these methods of body composition assessment in adults with Down syndrome (DS). The aim of this study was to examine the accuracy of the BAI and RFM in a sample of adults with- and without DS. We hypothesize that the RFM would provide greater accuracy than the BAI when estimating %Fat. SUBJECTS/METHODS: BAI and RFM were assessed in a sample of adults (n = 235, 50.2% female, 20.0% DS, 23.1 +/- 6.7 years). %Fat assessed using dual-energy X-ray absorptiometry served as the criterion method of body composition. Between-group differences were assessed using a two-way (SEX x DS) analysis of variance. RESULTS: BAI overestimated %Fat in men without DS, but underestimated %Fat in women without DS (4.1 +/- 4.5%Fat vs. -3.5 +/- 4.6%Fat, respectively, p< 0.001). BAI overestimated %Fat in men and women with DS (4.7 +/- 7.8%Fat vs. 0.8 +/- 7.5%Fat, respectively, p = 0.090). RFM slightly overestimated %Fat in male and female participants without DS, and did not vary by sex (0.9 +/- 4.0%Fat vs. 0.2 +/- 4.2%Fat, respectively, p = 0.248). RFM underestimated %Fat in men and women with DS, with no differences observed between sexes (-2.1 +/- 5.3%Fat vs. -2.2 +/- 6.9%Fat, respectively, p = 0.953). CONCLUSIONS: The BAI and RFM can be used to estimate body composition in individuals with- and without DS, however, the RFM yields greater accuracy and is recommended when more advanced methods of body composition assessment are unavailable or create unwanted participant burden.

TÍTULO / TITLE:   - Sclerostin Antibody Treatment Stimulates Bone Formation to Normalize Bone Mass in Male Down Syndrome Mice.

Enlace al Resumen

REVISTA / JOURNAL:    - JBMR Plus. 2017 Dec 29;2(1):47-54. doi: 10.1002/jbm4.10025. eCollection 2018 Jan.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/jbm4.10025

AUTORES / AUTHORS: - Williams DK; et al.

INSTITUCIÓN / INSTITUTION: - Department of Veterinary Physiology and Pharmacology College of Veterinary Medicine and Biomedical Sciences Texas A&M University College Station TX USA. 

RESUMEN / SUMMARY: - Down syndrome (DS), characterized by trisomy of human chromosome 21, is associated with a variety of endocrine disorders as well as profound skeletal abnormalities. The low bone mass phenotype in DS is defined by low bone turnover due to decreased osteoclast and osteoblast activity, decreasing the utility of antiresorptive agents in people with DS. Sclerostin antibody (SclAb) is a therapeutic candidate currently being evaluated as a bone anabolic agent. Scl, the product of the sclerostin gene (SOST), inhibits bone formation through its inhibition of Wnt signaling. SclAb increases bone mass by suppressing the action of the endogenous inhibitor of bone formation, Scl. To examine the effects of SclAb on the DS bone phenotype, 8-week-old male wild-type (WT) andTs65Dn DS mice were treated with 4 weekly iv injections of 100 mg/kg SclAb. Dual-energy X-ray absorptiometry (DXA), microCT, and dynamic histomorphometry analyses revealed that SclAb had a significant anabolic effect on both age-matched WT littermate controls and Ts65Dn DS mice that was osteoblast mediated, without significant changes in osteoclast parameters. SclAb treatment significantly increased both cortical and trabecular bone mass at multiple sites; SclAb treatment resulted in the normalization of Ts65Dn bone mineral density (BMD) to WT levels in the proximal tibia, distal femur, and whole body. Ex vivo bone marrow cultures demonstrated that SclAb increased the recruitment of the mesenchymal progenitors into the osteoblast lineage, as indicated by increased alkaline phosphatase-positive colonies, with no effect on osteoclast differentiation. Together, in the setting of a murine model of DS and decreased bone turnover, SclAb had a potent anabolic effect. SclAb stimulated bone formation and increased osteoblastogenesis without affecting osteoclastogenesis or bone resorption. These data suggest that SclAb is a promising new therapy to improve bone mass and reduce fracture risk in the face of the low bone mass

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Hospitalisation of adults with Down syndrome: lesson from a 10-year experience from a community hospital.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Nov 28. doi: 10.1111/jir.12572.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12572

AUTORES / AUTHORS: - Chenbhanich J ... Treadwell T;

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, Metrowest Medical Center, Framingham, MA, USA. Section of Infectious Diseases, Department of Medicine, Boston Medical Center and Boston School of Medicine, Boston, MA, USA.  

RESUMEN / SUMMARY: - Life expectancy of individuals with Down syndrome (DS) has improved significantly over the past decades. However, there are sparse data documenting the co-morbidities and hospitalisation of adult patients with DS in the literature. The aim of this study was to characterise the co-morbidities and pattern of hospitalisation in adult patients with DS during a 10-year period at the community hospital as well as to compare hospitalisation parameters with the general adult population during the same years. METHOD: We reviewed the medical records of 81 hospitalisations from 37 patients with DS aged 21 to 68 years at Metrowest Medical Center during a 10-year period and compared with those of the general adult population during the same time. Co-morbidities were also described. RESULTS: Adults with DS had a mean age at admission of 48.6 +/- 8.8 years with the median length of stay of 3 days (interquartile range 4 days). Male patients were hospitalised longer than female patients (mean 5.0 vs. 2.8 days; P < 0.05), and patients who lived at home were admitted at earlier ages than those who came from residential healthcare facility (mean 41.5 vs. 52.2 years; P < 0.001). The most common cause of hospitalisation was pneumonia/aspiration syndrome (29.6%), and the most common co-morbidity was gastroesophageal reflux disease (GERD)/dysphagia (70.3%). Presence of GERD/dysphagia or seizure disorder was significantly associated with multiple admission and readmission within 1 month (P < 0.05). The mortality rate was 4.9%, and the rate of intensive care unit admission was 8.6%. CONCLUSIONS: Our cohort did not show statistically significant different hospitalisation parameters such as inpatient mortality and average length of stay when compared with general adult population hospitalised at the same years. The care of adult patients with DS presents challenges in internal medicine due to its unique co-morbid profile and signifies the importance of multidisciplinary approach. In order to i

TÍTULO / TITLE:   - Chemokine levels predict progressive liver disease in Down syndrome patients with transient abnormal myelopoiesis.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Neonatol. 2018 Sep 24. pii: S1875-9572(18)30128-1. doi: 10.1016/j.pedneo.2018.09.005.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.pedneo.2018.09.005

AUTORES / AUTHORS: - Kinjo T;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Comprehensive Maternity and Perinatal Care Center, Kyushu University Hospital, Fukuoka, Japan; Fukuoka Children’s Hospital, Fukuoka, Japan. 

RESUMEN / SUMMARY: - Transient abnormal myelopoiesis (TAM) is a neonatal preleukemic syndrome that occurs exclusively in neonates with Down syndrome (DS). Most affected infants spontaneously resolve, although some patients culminate in hepatic failure despite the hematological remission. It is impossible to determine the patients who are at high risk of progressive liver disease and leukemic transformation. The objective is to search for biomarkers predicting the development of hepatic failure in DS infants with TAM. METHODS: Among 60 newborn infants with DS consecutively admitted to our institutions from 2003 to 2016, 41 infants with or without TAM were enrolled for the study. Twenty-two TAM-patients were classified into “progression group” (n = 7) that required any therapy and “spontaneous resolution group” (n = 15). Serum concentrations of chemokines (CXCL8, CXCL9, CXCL10, CCL2 and CCL5) and transforming growth factor (TGF)-beta1 were measured at diagnosis of TAM for assessing the outcome of progressive disease. RESULTS: Three patients developed leukemia during the study period (median, 1147 days; range, 33-3753). Three died of hepatic failure. All patients in the progression group were preterm birth <37 weeks of gestational age and were earlier than those in the spontaneous resolution group (median, 34.7 vs. 37.0 weeks, p < 0.01). The leukocyte counts and CXCL8 and CCL2 levels at diagnosis in the progression group were higher than those in the spontaneous resolution group (leukocyte: median, 81.60 vs. 27.30 x 10(9)/L, p = 0.01; CXCL8: 173.8 vs. 34.3 pg/ml, p< 0.01; CCL2: 790.3 vs. 209.8 pg/mL, p < 0.01). Multivariate analyses indicated that an increased CCL2 value was independently associated with the progression and CXCL8 with the death of liver failure, respectively (CCL2: standardized coefficient [sc], 0.43, p < 0.01; CXCL8: sc = -0.46, p = 0.02). CONCLUSION: High levels of circulating CXCL8 and CCL2 at diagnosis of TAM may predict progressive hepatic failure in DS infants.

Genetics - Genética

TÍTULO / TITLE:   - Assessment of genomic instability and proliferation index in cultured lymphocytes of patients with Down syndrome, congenital anomalies and aplastic anaemia.

Enlace al Resumen

REVISTA / JOURNAL:    - Mutat Res. 2018 Dec;836(Pt A):98-103. doi: 10.1016/j.mrgentox.2018.06.015. Epub 2018 Jun 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.mrgentox.2018.06.015

AUTORES / AUTHORS: - George A; ... Hande MP;

INSTITUCIÓN / INSTITUTION: - School of Bio Sciences and Technology, VIT, Vellore, India; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Applied Zoology, Mangalore University, Mangalore, India.  

RESUMEN / SUMMARY: - One hundred and fifteen cases [Down Syndrome (DS) n=75, Multiple Congenital Anomalies (MCA) n=15 and Aplastic Anaemia (AA) n=25], with respect to their nature of predisposition to cancer, were selected for clinical, cytogenetic and cyto-molecular studies to understand the severity of genomic instability according to the nature of the different diseases. Cytogenetic studies included chromosomal aberration (CA) assays and cytokinesis block micronucleus cytome (CBMN-Cyt) assays. In DS, MCA and AA, average frequencies of nuclear anomalies (NA) were 0.015+/-0.0006, 0.021+/-0.00123, 0.031+/-0.00098, respectively and CA were 0.107+/-0.003, 0.105+/-0.008, 0.158+/-0.006, respectively per metaphase. The extent of genomic instability in patients analysed by CBMN-Cyt assays and CA assays was statistically significant in all groups. Comparatively decreased cytokinesis block proliferation index (CBPI) observed in AA patients of 1.59+/-0.05, support the assumption that decreased levels of CBPI indicate increased genomic damage. Furthermore, we performed peptide nucleic acid fluorescence in situ hybridisation (PNA FISH) analysis to understand the mechanisms behind genomic instability and telomere dysfunction. PNA FISH showed increased frequencies of telomere signal free ends (0.98+/-0.13) in individuals with higher genomic instability. Therefore, the results demonstrate that increased chromosomal instability along with higher telomere attrition or loss may initiate gross DNA damage and leads to chromosomal instability, which is an important mechanism for triggering genomic instability - an important hallmark of cancer cells.

TÍTULO / TITLE:   - Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression.

Enlace al Resumen

REVISTA / JOURNAL:    - Cell Rep. 2018 Nov 13;25(7):1898-1911.e5. doi: 10.1016/j.celrep.2018.10.061.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.celrep.2018.10.061

AUTORES / AUTHORS: - Mowery CT; et al... Lane AA;

INSTITUCIÓN / INSTITUTION: - Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS, trisomy 21) is associated with developmental abnormalities and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes, we performed paired exogenous spike-in normalized RNA and chromatin immunoprecipitation sequencing in DS models. Absolute normalization unmasks global amplification of gene expression associated with trisomy 21. Overexpression of the nucleosome binding protein HMGN1 (encoded on chr21q22) recapitulates transcriptional changes seen with triplication of a Down syndrome critical region on distal chromosome 21, and HMGN1 is necessary for B cell phenotypes in DS models. Absolute exogenous-normalized chromatin immunoprecipitation sequencing (ChIP-Rx) also reveals a global increase in histone H3K27 acetylation caused by HMGN1. Transcriptional amplification downstream of HMGN1 is enriched for stage-specific programs of B cells and B cell acute lymphoblastic leukemia, dependent on the developmental cellular context. These data offer a mechanistic explanation for DS transcriptional patterns and suggest that further study of HMGN1 and RNA amplification in diverse DS phenotypes is warranted.

TÍTULO / TITLE:   - In Utero Diagnoses of Strikingly Similar Presentations of Complete Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant for Trisomy 21.

Enlace al Resumen

REVISTA / JOURNAL:    - Case Rep Pediatr. 2018 Oct 17;2018:6215675. doi: 10.1155/2018/6215675. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2018/6215675

AUTORES / AUTHORS: - Ling D, Dayan JG

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500-750 live births. The prevalence of DS has increased over the past two decades, correlating with a rise in the proportion of pregnancies complicated by advanced maternal age. There is also a correlation between advanced maternal age and dizygotic twinning rates. There is an increased risk of at least one twin being affected in dizygotic pregnancies compared to singletons. However, despite this greater relative risk, reports of concordance of DS in both dizygotic twins are very rare. Congenital heart disease (CHD) occurs in roughly 40% of individuals with DS, but there can be considerable phenotypic variation. The most common, atrioventricular septal defect accounts for only 40% of CHD seen in DS. There is also a higher incidence of CHD in twins, but also with a low incidence of concordance. There have been only five reported cases of concordant DS in dizygotic twins with confirmed chromosomal analyses; none of which describe concordant congenital heart disease. Here, we describe an unusual case of dizygotic twins of differing genders concordant for both Down syndrome and congenital heart disease of a strikingly similar presentation.

TÍTULO / TITLE:   - Bi-stream CNN Down Syndrome screening model based on genotyping array.

Enlace al Resumen

REVISTA / JOURNAL:    - BMC Med Genomics. 2018 Nov 20;11(Suppl 5):105. doi: 10.1186/s12920-018-0416-0.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12920-018-0416-0

AUTORES / AUTHORS: - Feng B; et al.... Guo Y;

INSTITUCIÓN / INSTITUTION: - School of Medicine,The University of New Mexico, Albuquerque, 87131, NM, USA. 

RESUMEN / SUMMARY: - Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occurs about 1 per 1,000 births worldwide, which is a very high rate, researchers haven’t found any effective method to cure DS. Currently, the most efficient ways of human DS prevention are screening and early detection. METHODS: In this study, we used deep learning techniques and analyzed a set of Illumina genotyping array data. We built a bi-stream convolutional neural networks model to screen/predict the occurrence of DS. Firstly, we built image input data by converting the intensities of each SNP site into chromosome SNP maps. Next, we proposed a bi-stream convolutional neural network (CNN) architecture with nine layers and two branch models. We further merged two CNN branch models into one model in the fourth convolutional layer, and output the prediction in the last layer. RESULTS: Our bi-stream CNN model achieved 99.3% average accuracies, and very low false-positive and false-negative rates, which was necessary for further applications in disease prediction and medical practice. We further visualized the feature maps and learned filters from intermediate convolutional layers, which showed the genomic patterns and correlated SNPs variations in human DS genomes. We also compared our methods with other CNN and traditional machine learning models. We further analyzed and discussed the characteristics and strengths of our bi-stream CNN model. CONCLUSIONS: Our bi-stream model used two branch CNN models to learn the local genome features and regional patterns among adjacent genes and SNP sites from two chromosomes simultaneously. It achieved the best performance in all evaluating metrics when compared with two single-stream CNN models and three traditional machine-learning algorithms. The visualized feature maps also provided opportunities to study the genomic mark

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Relationships of Body Composition to Cardiac Structure and Function in Adolescents With Down Syndrome are Different than in Adolescents Without Down Syndrome

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Cardiol. 2018 Nov 1. pii: 10.1007/s00246-018-2014-5. doi: 10.1007/s00246-018-2014-5.

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s00246-018-2014-5

AUTORES / AUTHORS: - Kelly A; et al.

INSTITUCIÓN / INSTITUTION: - Division of Endocrinology & Diabetes, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA. 

RESUMEN / SUMMARY: - Median survival in Down syndrome (DS) is 60 years, but cardiovascular disease risk and its markers such as left ventricular mass (LVM) have received limited attention. In youth, LVM is typically scaled to height(2.7) as a surrogate for lean body mass (LBM), the strongest predictor of LVM, but whether this algorithm applies to DS, a condition which features short stature, is unknown. To examine the relationships of LVM and function with height, LBM, and moderate-to-vigorous physical activity(MVPA) in DS, DS youth aged 10-20 years, and age-, sex-, BMI-, race-matched nonDS controls underwent echocardiography for LVM, ejection fraction (EF), and left ventricular diastolic function (measured as E/E’); dual-energy X-ray absorptiometry (DXA)-measured LBM; accelerometry for MVPA. (DS vs. nonDS median [min-max]): DS had lower height (cm) (144.5 [116.7-170.3] vs. 163.3 [134.8-186.7]; p < 0.0001); LBM (kg) (33.48 [14.5-62.3] vs 41.8 [18.07-72.46], p < 0.0001); and LVM (g) (68.3 [32.1-135] vs 94.0 [43.9-164.6], p < 0.0001); similar EF (%) (65 [54-77] vs 64 [53-77], p = 0.59); and higher E/E’ (8.41 [5.54-21.4] vs 5.81 [3.44-9.56], p < 0.0001). In height(2.7)-adjusted models, LVM was lower in DS (beta = - 7.7, p = 0.02). With adjustment for LBM, LVM was even lower in DS (beta = - 15.1, p < 0.0001), a finding not explained by MVPA. E/E’ remained higher in DS after adjustment for age, height, HR, SBP, and BMI (beta = 2.6, p < 0.0001). DS was associated with stiffer left ventricles and lower LVM, the latter magnified with LBM adjustment. Scaling to height(2.7), the traditional approach for assessing LVM in youth, may underestimate LVM differences in DS. Whether lower LVM and diastolic function are intrinsic to DS, pathologic, or protective remains unknown. Clinical Trial Registration: NCT01821300.

TÍTULO / TITLE:   - Comparative Assessment of Cephalometric and Tympanometric Readings in Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Cureus. 2018 Sep 13;10(9):e3301. doi: 10.7759/cureus.3301.

Enlace a la Editora de la Revista http://dx.doi.org/10.7759/cureus.3301

AUTORES / AUTHORS: - Khanna S; et al.

INSTITUCIÓN / INSTITUTION: - Municipal Corporation of Greater Mumbai, Nair Hospital Dental College, Mumbai, IND. 

RESUMEN / SUMMARY: - Aim The purpose of this study was to conduct a comparative assessment of the various cephalometric and auditory parameters between patients with Down syndrome (DS) and healthy controls. Methods The cephalometric and auditory parameters were divided among 50 participants into two equal sets, DS (n = 25) and controls (n=25), and assessed. While a standard cephalometric analysis was conducted to measure the hard tissue parameters, tympanometry was used to assess the audiological parameters. Results The values of the linear and angular cephalometric parameters of the DS group were found to be lower than the controls. All the controls recorded type A tympanogram while the DS group recorded type A, B, and C tympanograms. A significant relationship was observed in the cephalometric readings - eustachian tube (ET) length, posterior upper facial height (PUFH) length, sella (s)-basion (ba)-palatal length (PL), and s-ba-ET angles - among the subjects who presented with type B or C tympanogram in comparison to those with type A. Conclusion Tympanometry, a highly sensitive and relatively simple test to assess audiological parameters, has a significant relationship with a number of cephalometric indicators of growth and development. A deviation from the normal tympanometric readings can be used as an early indicator of the impending craniometric aberrations and handicap. This can be used as an effective tool for early intervention in cases of DS. Patients who have recorded abnormal tympanograms on multiple occasions over a period of six months can be subjected to a further cephalometric analysis.

Gynecology - Ginecología

TÍTULO / TITLE:   - Management of contraceptives and menstrual complaints in patients with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Gynecol Endocrinol. 2018 Oct 16:1-6. doi: 10.1080/09513590.2018.1501017.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/09513590.2018.1501017

AUTORES / AUTHORS: - Wandresen G; et al.

INSTITUCIÓN / INSTITUTION: - a Post Graduate Program in Gynecology and Obstetrics, Universidade Federal do Parana , Curitiba , Brazil. 

RESUMEN / SUMMARY: - Enhanced health care for patients with Down syndrome (DS) results in improved overall quality of life and longer life expectancy. The main gynecologic complaints of patients with DS and their caregivers relate to menstrual cycles, hygiene and reproductive issues. Certain aspects, such as age of menarche, menstrual cycles, internal genitalia, and hormone profile are similar to those observed in the general population. However, individuals with DS may have a higher incidence of other disorders related to menstruation, such as hypothyroidism, epilepsy and use of anticonvulsants. Contraceptive measures for individuals with DS can be used for both contraception and control of menstrual symptoms. The physician must be to make an individualized recommendation aimed at offering the most efficient and least invasive method with the fewest side effects. Among medical options are oral contraceptives, quarterly injectable medroxyprogesterone acetate, oral progesterone, a levonorgestrel-releasing intrauterine system, transdermal patch and vaginal rings. Surgical methods, including hysterectomy, endometrial ablation, or tubal ligation, are rarely considered because they raise ethical and legal questions. This article reviews the literature and basic guidelines to assist physicians who attend adolescent girls and women with DS to provide guidance on the appropriate management of the main gynecologic complaints of this population.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Assessment of genomic instability and proliferation index in cultured lymphocytes of patients with Down syndrome, congenital anomalies and aplastic anaemia.

Enlace al Resumen

REVISTA / JOURNAL:    - Mutat Res. 2018 Dec;836(Pt A):98-103. doi: 10.1016/j.mrgentox.2018.06.015. Epub 2018 Jun 8.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.mrgentox.2018.06.015

AUTORES / AUTHORS: - George A; ... Hande MP;

INSTITUCIÓN / INSTITUTION: - School of Bio Sciences and Technology, VIT, Vellore, India; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Applied Zoology, Mangalore University, Mangalore, India. 

RESUMEN / SUMMARY: - One hundred and fifteen cases [Down Syndrome (DS) n=75, Multiple Congenital Anomalies (MCA) n=15 and Aplastic Anaemia (AA) n=25], with respect to their nature of predisposition to cancer, were selected for clinical, cytogenetic and cyto-molecular studies to understand the severity of genomic instability according to the nature of the different diseases. Cytogenetic studies included chromosomal aberration (CA) assays and cytokinesis block micronucleus cytome (CBMN-Cyt) assays. In DS, MCA and AA, average frequencies of nuclear anomalies (NA) were 0.015+/-0.0006, 0.021+/-0.00123, 0.031+/-0.00098, respectively and CA were 0.107+/-0.003, 0.105+/-0.008, 0.158+/-0.006, respectively per metaphase. The extent of genomic instability in patients analysed by CBMN-Cyt assays and CA assays was statistically significant in all groups. Comparatively decreased cytokinesis block proliferation index (CBPI) observed in AA patients of 1.59+/-0.05, support the assumption that decreased levels of CBPI indicate increased genomic damage. Furthermore, we performed peptide nucleic acid fluorescence in situ hybridisation (PNA FISH) analysis to understand the mechanisms behind genomic instability and telomere dysfunction. PNA FISH showed increased frequencies of telomere signal free ends (0.98+/-0.13) in individuals with higher genomic instability. Therefore, the results demonstrate that increased chromosomal instability along with higher telomere attrition or loss may initiate gross DNA damage and leads to chromosomal instability, which is an important mechanism for triggering genomic instability - an important hallmark of cancer cells.

TÍTULO / TITLE:   - Single-cell analysis identifies CRLF2 rearrangements as both early and late events in Down syndrome and non-Down syndrome acute lymphoblastic leukaemia.

Enlace al Resumen

REVISTA / JOURNAL:    - Leukemia. 2018 Nov 28. pii: 10.1038/s41375-018-0297-4. doi: 10.1038/s41375-018-0297-4.

Enlace a la Editora de la Revista http://dx.doi.org/10.1038/s41375-018-0297-4

AUTORES / AUTHORS: - Potter N; ... Russell LJ;

INSTITUCIÓN / INSTITUTION: - Northern Institute for Cancer Research, Newcastle University, Newcastle-upon-Tyne, UK.  

RESUMEN / SUMMARY: - Deregulated expression of the type I cytokine receptor, CRLF2, is observed in 5-15% of precursor B-cell acute lymphoblastic leukaemia (B-ALL). We have previously reported the genomic landscape of patients with CRLF2 rearrangements (CRLF2-r) using both whole genome and exome sequencing, which identified a number of potential clonal and sub-clonal genomic alterations. In this study, we aimed to assess when the CRLF2-r; IGH-CRLF2 or P2RY8-CRLF2, arose during the evolution of both Down syndrome-ALL (DS-ALL) and non-DS-ALL. Using fluorescence in situ hybridisation, we were able to track up to four structural variants in single cells from 47 CRLF2-r B-ALL patients, which in association with our multiplex single-cell analysis of a further four patients, permitted simultaneous tracking of copy number alterations, structural and single nucleotide variants within individual cells. We observed CRLF2-r arising as both early and late events in DS and non-DS-ALL patients. Parallel evolution of discrete clones was observed in the development of CRLF2-r B-ALL, either involving the CRLF2-r or one of the other tracked abnormalities. In-depth single-cell analysis identified both linear and branching evolution with early clones harbouring a multitude of abnormalities, including the CRLF2-r in DS-ALL patients.

TÍTULO / TITLE:   - Prognostic impact of trisomy 21 in follicular lymphoma.

Enlace al Resumen

REVISTA / JOURNAL:    - Br J Haematol. 2018 Nov 12. doi: 10.1111/bjh.15664.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/bjh.15664

AUTORES / AUTHORS: - Mitsui T; Yokohama A; et al.

INSTITUCIÓN / INSTITUTION: - Division of Blood Transfusion Service, Gunma University Hospital, Maebashi, Japan 

RESUMEN / SUMMARY: - The chromosomal abnormalities associated with follicular lymphoma (FL) prognosis are not fully elucidated. Here, we evaluated the pattern of chromosomal abnormalities in FL, and clarified the correlations between the cytogenetic features and clinical outcome. Cytogenetic analysis was performed using standard methods of Giemsa-banding at diagnosis for 201 FL patients admitted to our hospitals between 2001 and 2013. The identified chromosomal abnormalities were: t(14;18)(q32;q21) (59.2%), +X (17.9%), del(6)(q)/-6 (16.9%), +7 (14.4%), abnormality of 1q12-21/1q (12.9%), del(13)(q)/-13 (11.9%), abnormality of 3q27 (10.4%), abnormality of 10q22-24 (10.0%), +12/dup(12)(q) (10.0%), abnormality of 1p21-22/1p (9.0%), +18 (9.0%), del(17)(p)/-17 (5.0%), and a complex karyotype (54.7%). Patients with trisomy 21 had a significantly shorter progression-free survival (P = 0.00171) and overall survival (OS) (P < 0.001) than those without trisomy 21; additionally, patients with trisomy 21 in the rituximab-treated cohort also had a significantly shorter OS (P = 0.000428). Multivariate analysis identified trisomy 21 as an independent risk factor in our cohorts with or without t(14;18) (P = 0.015). In conclusion, the presence of trisomy 21 was an independent risk factor for in FL. Chromosomal analysis of FL patients at diagnosis can provide useful information about their expected survival.

TÍTULO / TITLE:   - Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation.

Enlace al Resumen

REVISTA / JOURNAL:    - Leuk Lymphoma. 2018 Oct 2:1-4. doi: 10.1080/10428194.2018.1516883.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/10428194.2018.1516883

AUTORES / AUTHORS: - Foster JH; et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Section of Hematology and Oncology , Baylor College of Medicine , Houston , TX , USA. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Chemokine levels predict progressive liver disease in Down syndrome patients with transient abnormal myelopoiesis.

Enlace al Resumen

REVISTA / JOURNAL:    - Pediatr Neonatol. 2018 Sep 24. pii: S1875-9572(18)30128-1. doi: 10.1016/j.pedneo.2018.09.005.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.pedneo.2018.09.005

AUTORES / AUTHORS: - Kinjo T;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Comprehensive Maternity and Perinatal Care Center, Kyushu University Hospital, Fukuoka, Japan; Fukuoka Children’s Hospital, Fukuoka, Japan.  

RESUMEN / SUMMARY: - Transient abnormal myelopoiesis (TAM) is a neonatal preleukemic syndrome that occurs exclusively in neonates with Down syndrome (DS). Most affected infants spontaneously resolve, although some patients culminate in hepatic failure despite the hematological remission. It is impossible to determine the patients who are at high risk of progressive liver disease and leukemic transformation. The objective is to search for biomarkers predicting the development of hepatic failure in DS infants with TAM. METHODS: Among 60 newborn infants with DS consecutively admitted to our institutions from 2003 to 2016, 41 infants with or without TAM were enrolled for the study. Twenty-two TAM-patients were classified into “progression group” (n = 7) that required any therapy and “spontaneous resolution group” (n = 15). Serum concentrations of chemokines (CXCL8, CXCL9, CXCL10, CCL2 and CCL5) and transforming growth factor (TGF)-beta1 were measured at diagnosis of TAM for assessing the outcome of progressive disease. RESULTS: Three patients developed leukemia during the study period (median, 1147 days; range, 33-3753). Three died of hepatic failure. All patients in the progression group were preterm birth <37 weeks of gestational age and were earlier than those in the spontaneous resolution group (median, 34.7 vs. 37.0 weeks, p < 0.01). The leukocyte counts and CXCL8 and CCL2 levels at diagnosis in the progression group were higher than those in the spontaneous resolution group (leukocyte: median, 81.60 vs. 27.30 x 10(9)/L, p = 0.01; CXCL8: 173.8 vs. 34.3 pg/ml, p< 0.01; CCL2: 790.3 vs. 209.8 pg/mL, p < 0.01). Multivariate analyses indicated that an increased CCL2 value was independently associated with the progression and CXCL8 with the death of liver failure, respectively (CCL2: standardized coefficient [sc], 0.43, p < 0.01; CXCL8: sc = -0.46, p = 0.02). CONCLUSION: High levels of circulating CXCL8 and CCL2 at diagnosis of TAM may predict progressive hepatic failure in DS infants.

TÍTULO / TITLE:   - Characteristics and survival of children with acute leukemia with Down syndrome or other birth defects in New York State.

Enlace al Resumen

REVISTA / JOURNAL:    - Cancer Epidemiol. 2018 Oct 13;57:68-73. doi: 10.1016/j.canep.2018.10.004.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.canep.2018.10.004

AUTORES / AUTHORS: - Qiao B; et al.

INSTITUCIÓN / INSTITUTION: - New York State Cancer Registry, New York State Department of Health, Albany, NY, USA.  

RESUMEN / SUMMARY: - Acute lymphocytic leukemia (ALL) and acute myeloid leukemia (AML) among DS children have been studied extensively using data from clinical trials or institutional reports. The purpose of this study was to link population-based cancer and birth defects data to evaluate characteristics and survival of children with acute leukemia according to the presence of DS or other birth defects. METHODS: ALL and AML cases diagnosed between 1983 and 2012 among children aged 0-14 years were obtained from the New York State Cancer Registry. Birth defect status (DS, other birth defects, or no birth defects) was determined by linking with birth defects data. Associations between birth defect status and demographic characteristics were evaluated using contingency table analysis. Ten-year survival was calculated by birth defect status and other potential prognostic factors. Cox proportional hazards regression analysis was also performed. RESULTS: Among 2941 ALL children, 1.6% had DS, 3.8% had other birth defects, and 94.5% had no birth defects. Birth defect status was significantly associated with age at ALL diagnosis. Survivals were similar among three groups. Among 563 AML children, 11.0% had DS, 6.0% had other birth defects, and 83.0% had no birth defects. Children with DS were more likely to be diagnosed with AML at a younger age and showed the best survival. CONCLUSION: Age at leukemia diagnosis was significantly associated with the birth defect status. Comparable survival was observed for ALL children. However, AML children with DS demonstrated superior survival compared to children with other birth defects or no birth defects.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Palivizumab for all children with Down syndrome?

Enlace al Resumen

REVISTA / JOURNAL:    - Arch Dis Child. 2018 Oct 2. pii: archdischild-2018-316140. doi: 10.1136/archdischild-2018-316140

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2018-316140

AUTORES / AUTHORS: - Huggard D, Molloy EJ

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Altered endotoxin responsiveness in healthy children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - BMC Immunol. 2018 Nov 3;19(1):31. doi: 10.1186/s12865-018-0270-z.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12865-018-0270-z

AUTORES / AUTHORS: - Huggard D et al.

INSTITUCIÓN / INSTITUTION: - McGrane F; Paediatrics, Trinity College, the University of Dublin, Dublin, Ireland.; ADDRESS: Paediatrics, Tallaght Hospital, Dublin, Ireland. 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common syndromic immunodeficiency with an increased risk of infection, mortality from sepsis, and autoinflammation. Innate immune function is altered in DS and therefore we examined responses in CD11b and Toll like receptor 4 (TLR-4), which are important immune cell surface markers upregulated in response to Lipopolysaccharide (LPS) endotoxin, and the immunomodulator melatonin. Neutrophil and monocyte responses to LPS and melatonin in children with Down syndrome (DS) who were clinically stable were compared to age-matched controls. Whole blood was incubated with LPS and melatonin and the relative expression of CD11b and TLR-4 evaluated by flow cytometry. RESULTS: Children with DS had an increased response to LPS in neutrophils and intermediate monocytes, while also having elevated TLR-4 expression on non-classical monocytes compared to controls at baseline. Melatonin reduced CD11b expression on neutrophils, total monocytes, both classical and intermediate sub-types, in children with DS and controls. CONCLUSION: Melatonin could represent a useful clinical adjunct in the treatment of sepsis as an immunomodulator. Children with DS had increased LPS responses which may contribute to the more adverse outcomes seen in sepsis.

TÍTULO / TITLE:   - Underlying factors of recurrent infections in patients with down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - North Clin Istanb. 2018 Jan 29;5(2):163-168. doi: 10.14744/nci.2017.69379. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.14744/nci.2017.69379

AUTORES / AUTHORS: - Patiroglu T;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics and Immunology, Erciyes University Faculty of Medicine, Kayseri, Turkey. 

RESUMEN / SUMMARY: - Down syndrome is the most common chromosomal aberration. Patientswith Down syndrome suffer more infections than those without the disease. Underlying immunological disorders are considered to be the reason for the increasing frequency of infections in patients with Down syndrome. In addition, some anatomical abnormalities in the respiratory tract accompanying Down syndrome can disturb the innate immunity and contribute to the increase in infection rate. Respiratory tract infections are one of the most common causes of mortality in patients with Down syndrome. Awareness of the underlying reason for frequent respiratory tract infections should result in a decrease in mortality among these patients and contribute to an improvement in their quality of life.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - In vivo modeling of human neuron dynamics and Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Science. 2018 Nov 16;362(6416). pii: science.aau1810. doi: 10.1126/science.aau1810. Epub 2018 Oct 11

Enlace a la Editora de la Revista http://dx.doi.org/10.1126/science.aau1810

AUTORES / AUTHORS: - Real R ... De Paola V;

INSTITUCIÓN / INSTITUTION: - Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London W12 0NN, UK. 

RESUMEN / SUMMARY: - Harnessing the potential of human stem cells for modeling the physiology and diseases of cortical circuitry requires monitoring cellular dynamics in vivo. We show that human induced pluripotent stem cell (iPSC)-derived cortical neurons transplanted into the adult mouse cortex consistently organized into large (up to ~100 mm(3)) vascularized neuron-glia territories with complex cytoarchitecture. Longitudinal imaging of >4000 grafted developing human neurons revealed that neuronal arbors refined via branch-specific retraction; human synaptic networks substantially restructured over 4 months, with balanced rates of synapse formation and elimination; and oscillatory population activity mirrored the patterns of fetal neural networks. Lastly, we found increased synaptic stability and reduced oscillations in transplants from two individuals with Down syndrome, demonstrating the potential of in vivo imaging in human tissue grafts for patient-specific modeling of cortical development, physiology, and pathogenesis.

TÍTULO / TITLE:   - Subicular hypotrophy in fetuses with Down syndrome and in the Ts65Dn model of Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Brain Pathol. 2018 Oct 16. doi: 10.1111/bpa.12663.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/bpa.12663

AUTORES / AUTHORS: - Stagni F; et al

INSTITUCIÓN / INSTITUTION: - Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. 

RESUMEN / SUMMARY: - Intellectual disability in Down syndrome (DS) has been attributed to neurogenesis impairment during fetal brain development. Consistently with explicit memory alterations observed in children with DS, fetuses with DS exhibit neurogenesis impairment in the hippocampus, a key region involved in memory formation and consolidation. Recent evidence suggests that the subiculum plays a unique role in memory retrieval, a process that is also altered in DS. While much attention has been devoted to the hippocampus, there is a striking lack of information regarding the subiculum of individuals with DS and DS models. In order to fill this gap, in the current study, we examined the subiculum of fetuses with DS and of the Ts65Dn mouse model of DS. We found that in fetuses with DS (gestational week: 17-21), the subiculum had a reduced thickness, a reduced cell density, a reduced density of progenitor cells in the ventricular zone, a reduced percentage of neurons, and an increased percentage of astrocytes and of cells immunopositive for calretinin-a protein expressed by inhibitory interneurons. Similarly to fetuses with DS, the subiculum of neonate Ts65Dn mice was reduced in size, had a reduced number of neurons and a reduced number of proliferating cells. Results suggest that the developmental defects in the subiculum of fetuses with DS may underlie impairment in recall memory and possibly other functions played by the subiculum. The finding that the subiculum of the Ts65Dn mouse exhibits neuroanatomical defects resembling those seen in fetuses with DS further validates the use of this model for preclinical studies.

TÍTULO / TITLE:   - Alterations in reelin and reelin receptors in Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Neuroreport. 2019 Jan 2;30(1):14-18. doi: 10.1097/WNR.0000000000001153.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/WNR.0000000000001153

AUTORES / AUTHORS: - Belles M; et al.

INSTITUCIÓN / INSTITUTION: - ERI Biotecmed, Cell Biology Department, Universitat de Valencia, Valencia, España. 

RESUMEN / SUMMARY: - Reelin is an extracellular matrix glycoprotein that modulates synaptic function and plasticity, with a crucial role in neuronal migration. Changes in the expression of this protein have been reported in neurodegenerative diseases, such as Alzheimer’s disease (AD). This molecule is produced by Cajal-Retzius neurons during development and by inhibitory neurons in the adult nervous system. Individuals with Down syndrome (DS) present an early development of AD; therefore, we analyzed the alterations in this molecule and its receptors in the murine model for DS Ts65Dn as well as in human with DS. We performed immunofluorescence analysis for reelin and its receptors very-low-density lipoprotein receptor and apolipoprotein R receptor 2 in the temporal cortex of mice and humans and have quantified the density of reelin-expressing neurons and the intensity of expression of both receptors. We have observed an increment in the density of reelin immunoreactive neurons in both the temporal cortex of adult Ts65Dn mice and humans with DS. Moreover, these reelin immunoreactive neurons displayed a disorganized distribution when compared with wild-type mice. Regarding reelin receptors, very-low-density lipoprotein receptor expression remained unaltered in both Ts65Dn and humans with DS, whereas apolipoprotein R receptor 2 decreased in both individuals with DS and Ts65Dn mice. These alterations are similar to those observed in individuals with AD.

TÍTULO / TITLE:   - DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Brain Sci. 2018 Oct 16;8(10). pii: brainsci8100187. doi: 10.3390/brainsci8100187.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/brainsci8100187

AUTORES / AUTHORS: - Feki A, Hibaoui Y;

INSTITUCIÓN / INSTITUTION: - Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, 1 rue Michel-Servet, 1211 Geneva, Switzerland.  

RESUMEN / SUMMARY: - Down syndrome (DS) caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment, early onset of Alzheimer’s disease, congenital heart disease, hypotonia, muscle weakness and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Among the numerous protein coding genes of HSA21, dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A (DYRK1A) encodes a proline-directed serine/threonine and tyrosine kinase that plays pleiotropic roles in neurodevelopment in both physiological and pathological conditions. Numerous studies point to a crucial role of DYRK1A protein for brain defects in patients with DS. Thus, DYRK1A inhibition has shown benefits in several mouse models of DS, including improvement of cognitive behaviour. Lastly, a recent clinical trial has shown that epigallocatechine gallate (EGCG), a DYRK1A inhibitor, given to young patients with DS improved visual recognition memory, working memory performance and adaptive behaviour.

Neurology - Neurología

TÍTULO / TITLE:   - REM sleep in naps differentially relates to memory consolidation in typical preschoolers and children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30373840&dopt=Abstrac

Enlace a la Editora de la Revista Proc Natl Acad Sci U S A. 2018 Nov 13;115(46):11844-11849. doi: 10.1073/pnas.1811488115. Epub 2018 Oct 29.

AUTORES / AUTHORS: - Spano G ... Edgin JO;

INSTITUCIÓN / INSTITUTION: - Department of Psychology, University of Arizona, Tucson, AZ 85721 

RESUMEN / SUMMARY: - Sleep is recognized as a physiological state associated with learning, with studies showing that knowledge acquisition improves with naps. Little work has examined sleep-dependent learning in people with developmental disorders, for whom sleep quality is often impaired. We examined the effect of natural, in-home naps on word learning in typical young children and children with Down syndrome (DS). Despite similar immediate memory retention, naps benefitted memory performance in typical children but hindered performance in children with DS, who retained less when tested after a nap, but were more accurate after a wake interval. These effects of napping persisted 24 h later in both groups, even after an intervening overnight period of sleep. During naps in typical children, memory retention for object-label associations correlated positively with percent of time in rapid eye movement (REM) sleep. However, in children with DS, a population with reduced REM, learning was impaired, but only after the nap. This finding shows that a nap can increase memory loss in a subpopulation, highlighting that naps are not universally beneficial. Further, in healthy preschooler’s naps, processes in REM sleep may benefit learning.

TÍTULO / TITLE:   - Increased cerebral microbleeds and cortical superficial siderosis in pediatric patients with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Eur J Paediatr Neurol. 2018 Sep 12. pii: S1090-3798(17)31945-1. doi: 10.1016/j.ejpn.2018.09.004.

Enlace a la Editora de la Revista http://dx.doi.org/10.1016/j.ejpn.2018.09.004

AUTORES / AUTHORS: - Schoeppe F; Stoecklein S; et al

INSTITUCIÓN / INSTITUTION: - Department of Radiology, University Hospital, LMU Munich, Marchioninistr. 15, 81377, Munich, Germany. 

RESUMEN / SUMMARY: - Patients with Down syndrome carry a third copy of the amyloid precursor protein gene, which is localized on chromosome 21. Consequently, these patients are prone to develop early-onset Alzheimer disease and cerebral amyloid angiopathy. Post-mortem studies suggest increased amyloid deposition to be already detectable in children with Down syndrome. The aim of our study was to evaluate if amyloid-related changes in pediatric Down syndrome patients can be detected in vivo using MRI biomarkers of cerebral microbleeds and cortical superficial siderosis. MATERIALS AND METHODS: This retrospective study included 12 patients with Down syndrome (mean age = 5.0 years) and 12 age-matched control subjects (mean age = 4.8 years). Frequency and location of microbleeds and siderosis were assessed on blood-sensitive MRI sequences in a consensus reading by two radiologists applying a modified Microbleed Anatomical Rating Scale. RESULTS: Down syndrome patients showed a significantly higher mean microbleeds count and likelihood of siderosis than age-matched controls. Across groups, the highest microbleeds count was found in lobar regions (gray and white matter of frontal, parietal, temporal, and occipital lobes, and the insula), while fewer microbleeds were located in subcortical and infratentorial regions. The number of microbleeds increased over time in all three Down syndrome patients with a follow-up exam. CONCLUSION: In vivo MRI biomarkers can support the diagnosis of early-onset cerebral amyloid angiopathy, which might already be present in pediatric Down syndrome patients. This might contribute to clinical decision-making and potentially to the development of therapeutic and prophylactic approaches, as cerebral amyloid angiopathy increases the risk for intracranial hemorrhage and may be associated with increased risk of developing Alzheimer disease.

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - Adult-onset Buphthalmos in Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Glaucoma. 2018 Nov 19. doi: 10.1097/IJG.0000000000001127.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/IJG.0000000000001127

AUTORES / AUTHORS: - Faria-E-Sousa SJ; et al.

INSTITUCIÓN / INSTITUTION: - Department of Ophthalmology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Avenida Bandeirantes, Ribeirao Preto, Sao Paulo, Brazil. 

RESUMEN / SUMMARY: - PURPOSE: To report a peculiar case of adult-onset buphthalmos. METHODS: Review of the medical record of a 24-year-old patient with Down syndrome who developed buphthalmos in the left eye after corneal transplantation for keratoconus. RESULTS: In the next 2 years after surgery, the operated eye evolved with chronic anterior uveitis that led to progressive peripheral synechiae, oscillating intraocular pressure, cataract, graft failure, and buphthalmos. CONCLUSIONS: The finding of buphthalmos of adult-onset in Down syndrome raises important issues concerning the classification of this eye condition and the responsibility for detecting and monitoring eyes with glaucoma in individuals with chromosome 21 trisomy.

TÍTULO / TITLE:   - Effects of bifocals on visual acuity in children with Down syndrome: a randomized controlled trial.

Enlace al Resumen

REVISTA / JOURNAL:    - Acta Ophthalmol. 2018 Oct 27. doi: 10.1111/aos.13944.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/aos.13944

AUTORES / AUTHORS: - de Weger C et al

INSTITUCIÓN / INSTITUTION: - Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) typically have reduced visual acuity (VA) and accommodation lag, but it is unclear whether prescribed glasses should correct both distance VA (DVA) and near VA (NVA) due to the lack of RCTs. We therefore conducted a multicentre RCT to compare the effects of bifocals designed to correct both DVA and NVA with distance-correcting unifocal glasses in children with DS. METHODS: A total of 119 children with DS, aged 2-16, were randomly allocated for bifocal or unifocal glasses (with full correction of refraction error in cycloplegia) in 14 Dutch hospitals and followed during 1 year. VA data were analysed in relation to baseline VA with ancova. RESULTS: Treatment groups showed no differences at baseline. Shortly after receiving new corrections (~6 weeks), uncrowded NVA (bifocals 0.18 +/- 0.33 LogMar; unifocals 0.09 +/- 0.19 LogMar) and crowded NVA with bifocals (bifocals 0.13 +/- 0.36 LogMar; unifocals 0.08 +/- 0.33 LogMar) were significantly better than at baseline, but these short-term improvements in NVA were not significantly different between the two treatments (p > 0.151). The 1-year treatment differences were as follows: significantly larger improvement for bifocals compared to unifocals in both uncrowded NVA (bifocals 0.23 +/- 0.29 LogMar, unifocals 0.12 +/- 0.30 LogMar, p = 0.045) and crowded NVA (bifocals 0.31 +/- 0.28 LogMar; unifocals 0.16 +/- 0.30 LogMar, p = 0.017). Improvements in DVA were comparable (bifocals 0.07 +/- 0.21 LogMar, unifocals 0.08 +/- 0.22 LogMar, p = 0.565). Children with poor baseline VA improved more. Accommodation lag stayed unchanged. CONCLUSION: After one year, bifocals with full correction of ametropia led to significantly larger improvement of both uncrowded NVA and crowded NVA in children with DS with accommodation lag compared to unifocals.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Musculoskeletal anomalies in children with Down syndrome: an observational study.

Enlace al Resumen

REVISTA / JOURNAL:    - Arch Dis Child. 2018 Nov 24. pii: archdischild-2018-315751. doi: 10.1136/archdischild-2018-315751.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2018-315751

AUTORES / AUTHORS: - Foley C, Killeen OG

INSTITUCIÓN / INSTITUTION: - ational Centre for Paediatric Rheumatology, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland.; National Children’s Research Centre, Dublin, Ireland. 

RESUMEN / SUMMARY: - Musculoskeletal complications of Down syndrome (DS) are common but infrequently reported. The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS. METHODS: This was an observational study. Children with DS, aged 0-21 years, were invited to attend a musculoskeletal assessment clinic conducted by a paediatric physician. Relevant musculoskeletal history and clinical findings were documented. RESULTS: Over an 18-month period, 503 children with DS were examined (56% male). The median age was 8.1 years (0.6-19.2). Pes planus was almost universal, occurring in 91% of the cohort. A range of other musculoskeletal anomalies were observed, with inflammatory arthritis (7%) and scoliosis (4.8%) occurring most frequently after pes planus. Delay in ambulation was common; the median age to walk was 28 months (12-84). CONCLUSION: Children with DS are at increased risk of a number of potentially debilitating musculoskeletal problems. These conditions can present in variable manners or be completely asymptomatic. Pes planus is common; therefore, early consideration of orthotics and lifelong appropriate supportive footwear should be considered. Delayed ambulation is frequently noted. A significant proportion of children with DS have arthritis; however, despite a high prevalence, it is often missed, leading to delayed diagnosis. An annual musculoskeletal assessment for all children with DS could potentially enable early detection of problems, allowing for timely multidisciplinary team intervention and better clinical outcomes.

TÍTULO / TITLE:   - Men and women with Down syndrome exhibit different kinematic (but not spatio-temporal) gait patterns.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Oct 29. doi: 10.1111/jir.12560.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12560

AUTORES / AUTHORS: - Pau M; Condoluci C; et al.

INSTITUCIÓN / INSTITUTION: - Department of Rehabilitation of Pediatrics and Developmental Disabilities, IRCCS San Raffaele Pisana, Rome, Italy. 

RESUMEN / SUMMARY: - Gait phenotypes are well documented in people with Down syndrome (pwDS), but sex-related differences are still unexplored. This study investigated the existence of possible differences in spatio-temporal and kinematic parameters of gait between men and women with DS using quantitative three-dimensional gait analysis. METHODS: Gait patterns of 117 pwDS (53 F, 64 M) who underwent a computerised gait analysis from 2002 to 2017 were retrospectively analysed to obtain spatio-temporal gait parameters and kinematics in the sagittal plane at hip, knee and ankle joints, as well as foot progression. RESULTS: Overall, when considered as a single group, the gait patterns found for pwDS confirmed the findings of previous studies. However, when analysed by sex, our data revealed that women with DS exhibit a larger hip flexion at late stance (42% to 54% of the gait cycle) and reduced knee flexion at the beginning of the swing phase (61% to 69% of the gait cycle). In contrast, men are characterised by larger foot extra-rotation angles through most of the stance phase (from 0% to 55% of the gait cycle) and at the end of the swing phase (92% to 99% of the gait cycle). No differences between men and women with DS were found concerning ankle dorsi- plantar-flexion or in all spatio-temporal parameters normalised by individuals’ anthropometry, excluding cadence (higher in women). CONCLUSIONS: The findings of the present study highlight the need to investigate gait dysfunctions in pwDS by taking their sex into consideration. Such an approach may be useful not only in gaining a better understanding of the pathophysiology of gait disturbances associated with DS but also in supporting a better orientation of rehabilitative treatments.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Contribution of Physical and Motor Characteristics to Functional Performance in Children and Adolescents with Down Syndrome: A Preliminary Study.

Enlace al Resumen

REVISTA / JOURNAL:    - Med Sci Monit Basic Res. 2018 Oct 16;24:159-167. doi: 10.12659/MSMBR.910448.

Enlace a la Editora de la Revista http://dx.doi.org/10.12659/MSMBR.910448

AUTORES / AUTHORS: - Beqaj S; et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Faculty of Medicine, University of Prishtina, Prishtina, Kosovo. 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most frequent genetic mental disability. Individuals with DS experience a variety of physical, motor, and functional challenges throughout the lifespan. However, the inter-relatedness between these domains is relatively unexplored in children with DS. This study aimed to determine which physical and motor characteristics contribute to functional performance in children and adolescents with DS. It also investigated the relationship between physical, motor, and functional domains. MATERIAL AND METHODS We enrolled 44 children and adolescents with DS, ages 3-18 years, in this cross-sectional study. The participants were assessed for functional skills (PEDI-CAT), gross motor skills (GMFM-88), balance (PBS), fine motor skills (Nine-hole peg test), grip strength (hand-held Jamar dynamometer), and body mass index (BMI). Descriptive statistics, Pearson’s correlation, and stepwise linear regression were employed for statistical analysis. RESULTS Fine motor skills and grip strength were found to be significant predictors of functional performance. All measures, except BMI, were significantly correlated with each other. The participants scored below standard values in all 4 domains of PEDI-CAT, with the social/cognitive skills being most impaired, while mobility proficiency was found to be participants’ strongest asset. CONCLUSIONS This study demonstrated fine motor skills and grip strength to be predictors of functional performance in children and adolescents with DS. It also showed a high level of inter-relatedness between the variables of physical, motor, and functional domains in this population.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Attitude, knowledge and informed choice towards prenatal screening for Down Syndrome: a cross-sectional study.

Enlace al Resumen

REVISTA / JOURNAL:    - MC Pregnancy Childbirth. 2018 Nov 12;18(1):439. doi: 10.1186/s12884-018-2077-6.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s12884-018-2077-6

AUTORES / AUTHORS: - Pop-Tudose ME; et al.

INSTITUCIÓN / INSTITUTION: - Department of Medical Genetics, “Iuliu Hatieganu” University of Medicine and Pharmacy, Pasteur Louis Street No.6, 400349, Cluj-Napoca, Romania. 

RESUMEN / SUMMARY: - Down Syndrome screening test is a bridge between knowledge and uncertainty, safety and risk, unpredictability and desire to know in order to gain control. It may be accepted either not to have a baby with Down syndrome, or to prepare to have a baby with this condition. Every woman should understand that it is an option and should be encouraged to make their own decisions based on information and personal values. The implications and possible subsequent scenarios differentiate this type of test from the common biochemical tests performed during pregnancy, of paramount importance being the right to make informed choices. The aim of this study was to investigate the knowledge and attitude towards prenatal Down syndrome screening in order to asses to what extent the Romanian women make informed choices in this area. METHODS: A cross-sectional study was carried out that included 530 postpartum women, clients of Romania’ south-east region maternities, during April-September 2016. The level of knowledge and the attitude concerning the Down syndrome screening were evaluated using a questionnaire. Data were analyzed using SPSS version 20.0. RESULTS: 48.1% of the women have never heard about any tests for Down Syndrome and from those 51.9% who have heard, only 14.2% made an informed choice, 78.9% had a positive attitude for screening, 88% were classified as having insufficient knowledge and 68.3% made a value-consistent decision to accept or decline prenatal screening. A higher knowledge level was associated with a higher education level and the urban residence. The information satisfaction and confidence in the overall value of screening were predictive factors of positive attitude. More informed choices were made by women monitored by an obstetrician in a private practice. CONCLUSIONS: The prenatal screening tests for Down Syndrome were mostly unknown and the women who accepted or not to perform a test were insufficiently knowledgeable that means that the ethical concept of

TÍTULO / TITLE:   - Disclosing the diagnosis of Down syndrome: the experience of 50 Irish parents.

Enlace al Resumen

REVISTA / JOURNAL:    - Arch Dis Child. 2018 Nov 24. pii: archdischild-2018-315999. doi: 10.1136/archdischild-2018-315999.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2018-315999

AUTORES / AUTHORS: - Smith AM; et al

INSTITUCIÓN / INSTITUTION: - Paediatrics, Galway University Hospitals, Galway, Ireland. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Effective Fetal Epigenetic Biomarkers for Noninvasive Fetal Trisomy 21 Detections.

Enlace al Resumen

REVISTA / JOURNAL:    - Fetal Diagn Ther. 2018 Nov 8:1-6. doi: 10.1159/000494054.

Enlace a la Editora de la Revista http://dx.doi.org/10.1159/000494054

AUTORES / AUTHORS: - Lim JH; ... Ryu HM;

INSTITUCIÓN / INSTITUTION: - Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women’s Healthcare Center, Seoul, Republic of Korea 

RESUMEN / SUMMARY: - Recently, we identified three novel fetal-specific epigenetic DNA regions (FSERs) on chromosome 21 for detection of noninvasive fetal trisomy 21 (T21). In this study, the diagnostic accuracies of the three FSERs were assessed on a larger panel of the first-trimester pregnant women. MATERIAL AND METHODS: This study was conducted with maternal plasma collected from 167 pregnant women carrying 155 chromosomally normal and 12 T21 fetuses (10-13 gestational weeks). Accuracies of FSERs for noninvasive prenatal test of fetal T21 were estimated by the area under the receiver operator characteristic curve (AUC). RESULTS: The levels of all FSERs increased in pregnant women with T21 fetuses when compared with controls (p < 0.001 for all). The levels of the three FSERs did not differ according to maternal age, body mass index, and fetal sex at maternal blood sampling (p > 0.05 for all). In noninvasive fetal T21 detection, the AUC of FSER1, FSER2, and FSER3 were 0.859 (95% CI: 0.746-0.972), 0.919 (95% CI: 0.856-0.982), and 0.868 (95% CI: 0.746-0.990), respectively. DISCUSSION: The findings of this study suggest that all FSERs may be useful for noninvasive fetal T21 detection, regardless of maternal age, body mass index, and fetal sex.

TÍTULO / TITLE:   - Prenatal screening for Down syndrome in twin pregnancies: estimates of screening performance based on 61 affected and 7,302 unaffected twin pregnancies.

Enlace al Resumen

REVISTA / JOURNAL:    - Prenat Diagn. 2018 Oct 26. doi: 10.1002/pd.5381.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/pd.5381

AUTORES / AUTHORS: - Wald NJ et al.

INSTITUCIÓN / INSTITUTION: - Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, E1 4NS, UK. 

RESUMEN / SUMMARY: - To determine whether assumptions used in prenatal screening for Down syndrome in twin pregnancies are valid, and derive estimates of risk and screening performance in twin pregnancies using observed data. METHODS: Data were collected on nuchal translucency, chorionicity, pregnancy associated plasma protein-A (PAPP-A) and free ss human chorionic gonadotrophin (free ss-hCG) from 61 twin pregnancies with Down syndrome and 7,302 unaffected twin pregnancies. Distribution parameters were determined, and used to estimate screening performance. RESULTS: The assumption that proportional differences in serum marker levels in affected and unaffected singleton pregnancies apply to twin pregnancies was not confirmed. Median free beta-hCG value in monochorionic affected twin pregnancies (2.63 multiples of the median (MoM), 95% CI 1.79-3.22MoM)) was lower than that assuming proportionality (3.76 MoM), but the median PAPP-A value in dichorionic affected twin pregnancies (1.88 MoM (95% CI 1.60-2.17 MoM)) was higher than based on proportionality (1.33 MoM). The detection rate was 87% for a 3% false-positive rate in monochorionic twin pregnancies, and 74% in dichorionic twin pregnancies compared with 86% in singleton pregnancies. CONCLUSIONS: Estimates of screening performance in Down syndrome twin pregnancies do not need to rely on assumption and can take account of chorionicity and gestational age.

TÍTULO / TITLE:   - First-trimester serum biomarker screening for fetal Down syndrome as a predictor of preterm delivery: a population-based study.

Enlace al Resumen

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Oct 29:1-8. doi: 10.1080/14767058.2018.1529162.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1529162

AUTORES / AUTHORS: - Pornwattanakrilert W;

INSTITUCIÓN / INSTITUTION: - a Faculty of Medicine , Department of Obstetrics and Gynecology , Chiang Mai University , Chiang Mai , Thailand. 

RESUMEN / SUMMARY: - To examine the relationship between the first-trimester serum biomarker levels (pregnancy-associated plasma protein A:PAPP-A; and free beta-human chorionic gonadotropin: b-hCG) and preterm birth; and to create the predictive models for preterm birth in case of strong correlation. METHODS: Secondary analysis on a large prospective database of singleton pregnancies undergoing first-trimester serum screening with complete follow-up for pregnancy outcomes. The multiples of medians (MoM) of the biomarkers were compared between the group of term and preterm/early preterm birth. Predictive models were developed based on adjusted MoMs and logistic regression analysis, and then diagnostic performances in predicting preterm birth were assessed. RESULTS: Of 24,611 pregnancies eligible for analysis, 1908 (7.8%) and 500 (2.0%) had preterm and early preterm birth, respectively. Medians MoMs of both biomarkers were significantly lower in preterm and early preterm birth group. The predictive models were constructed. Performance in predicting preterm birth of these models yielded the area-under-ROC-curve of 0.560, 0.652, and 0.653 for b-hCG, PAPP-A, and combined biomarkers, respectively. In predicting early preterm birth, the areas-under-the-curve were found to be 0.551, 0.675, and 0.674 for b-hCG, PAPP-A, and combined biomarkers, respectively. CONCLUSION: The routine first-trimester serum screening of fetal Down syndrome could also be used as a tool of risk identification of preterm birth. We could take advantage of the screening by incorporating the predictive models into the Down syndrome screening software to report the preterm risk in the same test without extra effort and extra cost.

TÍTULO / TITLE:   - How to correct the impact of ethnicity on effectiveness of the second trimester maternal serum screen of fetal Down syndrome?

Enlace al Resumen

REVISTA / JOURNAL:    - J Matern Fetal Neonatal Med. 2018 Oct 29:1-5. doi: 10.1080/14767058.2018.1463367.

Enlace a la Editora de la Revista http://dx.doi.org/10.1080/14767058.2018.1463367

AUTORES / AUTHORS: - Tana C; et al.

INSTITUCIÓN / INSTITUTION: - a Department of Obstetrics and Gynecology , Faculty of Medicine Chiang Mai University , Chiang Mai , Thailand. 

RESUMEN / SUMMARY: - To compare the performance of second trimester maternal serum screen (MSS) for fetal Down syndrome in Thai population between the conventional method using Caucasian reference ranges with ethnic factor correction (CRR-EC) and the method using specific Thai reference ranges (TRRs). METHODS: A prospective database of the MSS project was accessed. The concentrations of alpha fetoprotein (AFP), beta-hCG, and uE3 were converted to their multiple of medians (MoMs) by two methods; CRR-EC for Asian women and TRR. The detection rate and false positive rate derived from the two methods were compared. RESULTS: Of 20,229 cases, 35 women had fetal Down syndrome. The detection rates of both methods were comparable, whereas the false-positive rate of TRR was significantly lower (8.8 versus 11.7%; p < .001). The improvement was mainly caused by more accuracy of the MoMs of beta-hCG, not AFP/uE3, based on TRR. CONCLUSIONS: The effectiveness of MSS could be improved by using our own reference ranges instead of using ethnic factor correction. With TRR, the false-positive rate or the number of invasive diagnoses could be significantly decreased without compromise of the detection rate. To improve MSS performance, each population should use its own reference ranges.

TÍTULO / TITLE:   - Danish Sonographers’ Experiences of the Introduction of “Moderate Risk” in Prenatal Screening for Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Pregnancy. 2018 Oct 9;2018:1646035. doi: 10.1155/2018/1646035. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1155/2018/1646035

AUTORES / AUTHORS: - Moller A et al.

INSTITUCIÓN / INSTITUTION: - Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark. 

RESUMEN / SUMMARY: - The aim of the study was to determine sonographers’ experiences with the introduction of an offer of noninvasive prenatal testing (NIPT) to a new moderate-risk (MR) group at the combined first-trimester prenatal screening (cFTS). Study Design: A qualitative approach consisting of seven semistructured interviews with five sonographers (midwives and nurses). Data was analyzed using thematic analysis. Main Outcome Measures: Sonographers’ perception of offering NIPT to women in MR. Results: The sonographers understood NIPT as a positive development in prenatal screening due to a safe procedure and high detection rates for trisomies 13, 18, and 21. Prior to the introduction of MR, the sonographers were concerned about inducing worry in pregnant women in this new risk group. However, the pregnant women responded very positively, which the sonographers attributed to several factors such as the women’s overall reason for participating in prenatal screening, the simplicity of the NIPT procedure, and the communicative strategies used by the sonographers. The strategies included all sonographers using the same words and explanations, emphasizing that statistics were in the women’s favor, initiating the presentation of MR with a positive message, and downplaying the MR category. Conclusion: Sonographers’ communicative strategies succeeded in limiting worry in pregnant women in MR. As such, the findings are valuable for health professionals, who are responsible for communicating about prenatal screening results and diagnostic options

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Gross motor proficiency and intellectual functioning: A comparison among children with Down syndrome, children with borderline intellectual functioning, and typically developing children.

Enlace al Resumen

REVISTA / JOURNAL:    - Medicine (Baltimore). 2018 Oct;97(41):e12737. doi: 10.1097/MD.0000000000012737.

Enlace a la Editora de la Revista http://dx.doi.org/10.1097/MD.0000000000012737

AUTORES / AUTHORS: - Alesi M; et al.

INSTITUCIÓN / INSTITUTION: - Department of Psychology and Educational Sciences.; Sport and Exercise Sciences Research Unit, University of Palermo, Palermo, Italy. 

RESUMEN / SUMMARY: - This cross-sectional study examines differences in gross motor proficiency as a function of different intellectual functioning profiles. Two motor areas have been investigated as being equally essential to gross motor functions in every-day life: locomotion and object control.It aims to compare gross motor skills endorsed by children with Down syndrome (DS), children with borderline intellectual functioning (BIF), and typically developing children (TDC).Group 1 was composed of 18 children with DS (chronological age = 8.22), group 2 was composed of 18 children with BIF (chronological age = 9.32), and group 3 was composed of 18 children with typical development (TD) (chronological age = 9.28).Gross motor skills were measured through the test of gross motor development (TGMD-Test) composed of locomotion and object control tasks. Children with DS showed worse gross motor skills compared with children with BIF and typically developing children by underscoring both on all locomotion (e.g., walking, running, hopping, galloping, jumping, sliding, and leaping) and all object control tasks (e.g., throwing, catching, striking, bouncing, kicking, pulling, and pushing).In DS group strengths were found on run and slide skills, in BIF group strengths were on run, long jump and slide skills and in TDC group strengths were on run and slide skills. For all of the 3 groups the locomotor worst performed task was jump forward with arm swing. Findings suggest implications for further practice to develop evidence-based exercise programs aimed to rehabilitate gross motor skills through the regular participation in structured exercise activities.

TÍTULO / TITLE:   - On the Design of Broad-Based Neuropsychological Test Batteries to Assess the Cognitive Abilities of Individuals with Down Syndrome in the Context of Clinical Trials.

Enlace al Resumen

REVISTA / JOURNAL:    - Brain Sci. 2018 Nov 26;8(12). pii: brainsci8120205. doi: 10.3390/brainsci8120205.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/brainsci8120205

AUTORES / AUTHORS: - Basten IA; et al....Costa ACS

INSTITUCIÓN / INSTITUTION: - Division of Neurology and Epilepsy, Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common genetically-defined cause of intellectual disability. Neurodevelopmental deficits displayed by individuals with DS are generally global, however, disproportionate deficits in cognitive processes that depend heavily on the hippocampus and prefrontal cortex are also well documented. Additionally, DS is associated with relative strengths in visual processing and visuospatial short-term memory, and weaknesses in the verbal domain. Although reports of pharmacological rescuing of learning and memory deficits in mouse models of DS abound in the literature, proving the principle that cognitive ability of persons with DS can be boosted through pharmacological means is still an elusive goal. The design of customized batteries of neuropsychological efficacy outcome measures is essential for the successful implementation of clinical trials of potential cognitive enhancing strategies. Here, we review the neurocognitive phenotype of individuals with DS and major broad-based test batteries designed to quantify specific cognitive domains in these individuals, including the one used in a pilot trial of the drug memantine. The main goal is to illustrate the essential considerations in planning trials to enhance cognitive functions in individuals with DS, which should also have implications for the design of similar studies in individuals with other forms of intellectual disability.

TÍTULO / TITLE:   - The validity and reliability of the CAMDEX-DS for assessing dementia in adults with Down syndrome in Brazil.

Enlace al Resumen

REVISTA / JOURNAL:    - Braz J Psychiatr. 2018 Oct 22. pii: S1516-44462018005008103. doi: 10.1590/1516-4446-2018-0033.

Enlace a la Editora de la Revista http://dx.doi.org/10.1590/1516-4446-2018-0033

AUTORES / AUTHORS: - Fonseca LM; et al.

INSTITUCIÓN / INSTITUTION: - Programa Terceira Idade (PROTER), Departamento e Instituto de Psiquiatria, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo (USP), SP, Brazil. 

RESUMEN / SUMMARY: - Alzheimer’s disease occurs at a higher prevalence and an earlier age in individuals with Down syndrome (DS) than typically developing individuals. However, diagnosing dementia in individuals with intellectual disability remains a challenge due to pre-existing cognitive deficits. The aim of this study was to investigate the validity and reliability of the Brazilian version of the Cambridge Examination for Mental Disorders of Older People with Down’s syndrome and Others with Intellectual Disabilities (CAMDEX-DS) for individuals with DS. METHODS: Two psychiatrists, working independently, evaluated 92 adults with DS >/= 30 years of age. The concurrent validity of the CAMDEX-DS was analyzed in relation to the gold standard of established international criteria. In a subgroup of 20 subjects, the concurrent validity of the CAMDEX-DS was analyzed in relation to an independent objective assessment of cognitive decline over three years. We analyzed the inter-rater reliability of cognitive assessment. RESULTS: The diagnostic accuracy of the CAMDEX-DS compared to the gold standard was 96.7%. CAMDEX-DS-based diagnosis was considered consistent with cognitive decline. The probability of a participant with dementia having cognitive decline was 83%. Inter-rater reliability for the participant assessment was good, with a kappa of > 0.8 for 93% of the CAMDEX-DS items. CONCLUSION: The CAMDEX-DS can be considered the first valid and reliable instrument for evaluating dementia in adults with DS in Brazil. Its use in such individuals could improve clinical practice and research.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2018 Nov;123(6):514-528. doi: 10.1352/1944-7558-123.6.514.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-123.6.514

AUTORES / AUTHORS: - Rosser TC; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - The cause of the high degree of variability in cognition and behavior among individuals with Down syndrome (DS) is unknown. We hypothesized that birth defects requiring surgery in the first years of life (congenital heart defects and gastrointestinal defects) might affect an individual’s level of function. We used data from the first 234 individuals, age 6-25 years, enrolled in the Down Syndrome Cognition Project (DSCP) to test this hypothesis. Data were drawn from medical records, parent interviews, and a cognitive and behavior assessment battery. Results did not support our hypothesis. That is, we found no evidence that either birth defect was associated with poorer outcomes, adjusting for gender, race/ethnicity, and socioeconomic status. Implications for study design and measurement are discussed.

TÍTULO / TITLE:   - Hospitalisation of adults with Down syndrome: lesson from a 10-year experience from a community hospital.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Nov 28. doi: 10.1111/jir.12572.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12572

AUTORES / AUTHORS: - Chenbhanich J ... Treadwell T;

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, Metrowest Medical Center, Framingham, MA, USA.; Section of Infectious Diseases, Department of Medicine, Boston Medical Center and Boston School of Medicine, Boston, MA, USA. 

RESUMEN / SUMMARY: - Life expectancy of individuals with Down syndrome (DS) has improved significantly over the past decades. However, there are sparse data documenting the co-morbidities and hospitalisation of adult patients with DS in the literature. The aim of this study was to characterise the co-morbidities and pattern of hospitalisation in adult patients with DS during a 10-year period at the community hospital as well as to compare hospitalisation parameters with the general adult population during the same years. METHOD: We reviewed the medical records of 81 hospitalisations from 37 patients with DS aged 21 to 68 years at Metrowest Medical Center during a 10-year period and compared with those of the general adult population during the same time. Co-morbidities were also described. RESULTS: Adults with DS had a mean age at admission of 48.6 +/- 8.8 years with the median length of stay of 3 days (interquartile range 4 days). Male patients were hospitalised longer than female patients (mean 5.0 vs. 2.8 days; P < 0.05), and patients who lived at home were admitted at earlier ages than those who came from residential healthcare facility (mean 41.5 vs. 52.2 years; P < 0.001). The most common cause of hospitalisation was pneumonia/aspiration syndrome (29.6%), and the most common co-morbidity was gastroesophageal reflux disease (GERD)/dysphagia (70.3%). Presence of GERD/dysphagia or seizure disorder was significantly associated with multiple admission and readmission within 1 month (P < 0.05). The mortality rate was 4.9%, and the rate of intensive care unit admission was 8.6%. CONCLUSIONS: Our cohort did not show statistically significant different hospitalisation parameters such as inpatient mortality and average length of stay when compared with general adult population hospitalised at the same years. The care of adult patients with DS presents challenges in internal medicine due to its unique co-morbid profile and signifies the importance of multidisciplinary approach. In order to i

TÍTULO / TITLE:   - Outcomes for Hospitalized Older Adults with Down Syndrome in the United States.

Enlace al Resumen

REVISTA / JOURNAL:    - J Alzheimers Dis. 2018;66(1):377-386. doi: 10.3233/JAD-171067.

Enlace a la Editora de la Revista http://dx.doi.org/10.3233/JAD-171067

AUTORES / AUTHORS: - Mendiratta P; et al.

INSTITUCIÓN / INSTITUTION: - Department of Geriatrics, College of Medicine-University of Arkansas Medical Sciences, Little Rock, AR, USA. 

RESUMEN / SUMMARY: - Patients with Down syndrome (DS) often survive into adulthood. Relatively little information is currently available regarding hospitalization outcomes among mature, older adults with DS. OBJECTIVE: To identify risk factors associated with hospital mortality rates and increased costs for hospitalized older adults with DS. METHODS: Data on hospitalized older adults with DS (>/=65 years) were identified from the Nationwide Inpatient Sample database (6) from 2002 through 2012. Multivariate analyses were performed to evaluate risk factors associated with hospital mortality and hospitalization cost in these patients. RESULTS: A total of 2,134 older adults with DS were identified. A temporal increase over the 11-year period was observed in the number of older adults with DS who were hospitalized (trend p < 0.0001). However, the hospital mortality rate and post-hospital discharge to skilled nursing facilities have decreased during the same time period. Risk factors associated with increased hospital mortality included advanced age (70-79 years), female gender, admissions in the western United States, and presence of comorbid conditions (ischemic heart disease, Alzheimer’s disease, and cerebrovascular accident). The mean cost was $18,241 (SD $56,105) over the 11-year period. However, no significant temporal changes in costs were noted (trend p = 0.14). CONCLUSIONS: The number of hospitalized elderly Americans with DS has increased over the 11-year period. However, hospital mortality and discharge to skilled nursing facilities have decreased during the same time period. Several demographic and co-morbid factors are associated with increased mortality. No significant differences in temporal trends in costs were noted.

TÍTULO / TITLE:   - Congenital heart anomalies and non-white ethnicity are among the factors associated with poor survival rates in people with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Evid Based Nurs. 2018 Nov 2. pii: eb-2018-102946. doi: 10.1136/eb-2018-102946.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/eb-2018-102946

AUTORES / AUTHORS: - Heslop P;

INSTITUCIÓN / INSTITUTION: - Norah Fry Centre for Disability Studies, University of Bristol School for Policy Studies, Bristol, UK. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Web Page Design Recommendations for People with Down Syndrome Based on Users’ Experiences.

Enlace al Resumen

REVISTA / JOURNAL:    - Sensors (Basel). 2018 Nov 20;18(11). pii: s18114047. doi: 10.3390/s18114047.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/s18114047

AUTORES / AUTHORS: - Alonso-Virgos L; et al.

INSTITUCIÓN / INSTITUTION: - School of Engineering and Technology, Universidad Internacional de La Rioja, Avda. de la Paz, 137, 26006 Logroño, La Rioja, España 

RESUMEN / SUMMARY: - At present, there is a high number of people with Down syndrome interested and trained to be an active part of society. According to the data extracted by our surveys we know that only 6% of the population with Down syndrome feels isolated in daily activities. However, when the activity requires the use of a computer, the percentage of people who feel isolated increases to 18%. This means that there are obvious website accessibility barriers that make it difficult for users with Down syndrome. To solve this problem, it is considered necessary to make an exhaustive study about Down syndrome. We know that the trisomy of chromosome 21 causes a series of symptoms that directly affect ones Internet browsing capabilities. For example, speech disturbances make communication and speed difficult. This guide is based on a neurological study of Down syndrome. Alterations in listening make understanding audio, retention of audio concepts and speed difficult. The alterations in the physiognomy of movement make it difficult for them to act quickly. Many of these alterations are caused by cognitive disability. After assessing the needs, the benefits of Web Content Accessibility Guidelines 2.0 (WCAG 2.0), and the existing usability guidelines are analyzed and those that may be useful for this profile are extracted. User tests are carried out through two websites developed specifically for this study with the aim of demonstrating the level of effectiveness of each of the planned guidelines. Considering the neurological characteristics of this intellectual disability, research is developed that seeks to extract a list of useful accessibility and usability guidelines for web developers.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Palivizumab for all children with Down syndrome?

Enlace al Resumen

REVISTA / JOURNAL:    - Arch Dis Child. 2018 Oct 2. pii: archdischild-2018-316140. doi: 10.1136/archdischild-2018-316140.

Enlace a la Editora de la Revista http://dx.doi.org/10.1136/archdischild-2018-316140

AUTORES / AUTHORS: - Huggard D, Molloy EJ

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Hospitalisation of adults with Down syndrome: lesson from a 10-year experience from a community hospital.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Nov 28. doi: 10.1111/jir.12572.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12572

AUTORES / AUTHORS: - Chenbhanich J ... Treadwell T;

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, Metrowest Medical Center, Framingham, MA, USA.;Section of Infectious Diseases, Department of Medicine, Boston Medical Center and Boston School of Medicine, Boston, MA, USA.  

RESUMEN / SUMMARY: - Life expectancy of individuals with Down syndrome (DS) has improved significantly over the past decades. However, there are sparse data documenting the co-morbidities and hospitalisation of adult patients with DS in the literature. The aim of this study was to characterise the co-morbidities and pattern of hospitalisation in adult patients with DS during a 10-year period at the community hospital as well as to compare hospitalisation parameters with the general adult population during the same years. METHOD: We reviewed the medical records of 81 hospitalisations from 37 patients with DS aged 21 to 68 years at Metrowest Medical Center during a 10-year period and compared with those of the general adult population during the same time. Co-morbidities were also described. RESULTS: Adults with DS had a mean age at admission of 48.6 +/- 8.8 years with the median length of stay of 3 days (interquartile range 4 days). Male patients were hospitalised longer than female patients (mean 5.0 vs. 2.8 days; P < 0.05), and patients who lived at home were admitted at earlier ages than those who came from residential healthcare facility (mean 41.5 vs. 52.2 years; P < 0.001). The most common cause of hospitalisation was pneumonia/aspiration syndrome (29.6%), and the most common co-morbidity was gastroesophageal reflux disease (GERD)/dysphagia (70.3%). Presence of GERD/dysphagia or seizure disorder was significantly associated with multiple admission and readmission within 1 month (P < 0.05). The mortality rate was 4.9%, and the rate of intensive care unit admission was 8.6%. CONCLUSIONS: Our cohort did not show statistically significant different hospitalisation parameters such as inpatient mortality and average length of stay when compared with general adult population hospitalised at the same years. The care of adult patients with DS presents challenges in internal medicine due to its unique co-morbid profile and signifies the importance of multidisciplinary approach. In order to i

TÍTULO / TITLE:   - Successful upper airway stimulation therapy in an adult Down syndrome patient with severe obstructive sleep apnea.

Enlace al Resumen

REVISTA / JOURNAL:    - Sleep Breath. 2018 Nov 14. pii: 10.1007/s11325-018-1752-1. doi: 10.1007/s11325-018-1752-1

Enlace a la Editora de la Revista http://dx.doi.org/10.1007/s11325-018-1752-1

AUTORES / AUTHORS: - Van de Perck E; et al.

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, Belgium.; Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, Edegem, Belgium.  

RESUMEN / SUMMARY: - The aim of this study was to report on the successful application of upper airway stimulation (UAS) therapy in an adult Down syndrome (DS) patient with severe obstructive sleep apnea (OSA) and continuous positive airway pressure (CPAP) intolerance. METHODS: Baseline polysomnography (PSG) in a 23-year-old male OSA patient (body mass index (BMI) 24.4 kg/m(2)) revealed an apnea/hypopnea index (AHI) of 61.5 events/h and oxygen desaturation index (ODI) of 39.7 events/h. Based on the clinical examination, PSG and drug-induced sleep endoscopy, the patient fulfilled the formal inclusion criteria for UAS therapy: AHI between 15 and 65 events/h, BMI < 32 kg/m(2), and no complete concentric collapse at the level of the velopharynx. RESULTS: Implantation of the hypoglossal nerve stimulator in the adult patient with DS resulted in a substantial subjective as well as objective improvement of OSA (63 to 81% decrease in AHI and 77% decrease in ODI), translating into an overall satisfactory outcome. CONCLUSION: Research on the long-term effectiveness of UAS therapy in a larger group of patients with DS is needed. However, based on the available literature and our presented case, respiration-synchronized electrostimulation of the hypoglossal nerve using UAS therapy may have a potential value in well-selected OSA patients with DS who are non-compliant to CPAP therapy.

TÍTULO / TITLE:   - Prevalence of Sleep Disorders in Adults With Down Syndrome: A Comparative Study of Self-Reported, Actigraphic, and Polysomnographic Findings.

Enlace al Resumen

REVISTA / JOURNAL:    - J Clin Sleep Med. 2018 Oct 15;14(10):1725-1733. doi: 10.5664/jcsm.7382.

Enlace a la Editora de la Revista http://dx.doi.org/10.5664/jcsm.7382

AUTORES / AUTHORS: - Gimenez S et al.

INSTITUCIÓN / INSTITUTION: - Multidisciplinary Sleep Unit, Respiratory Department, Hospital de la Santa Creu i Sant Pau, Barcelona, España.;  

RESUMEN / SUMMARY: - STUDY OBJECTIVES: Sleep problems are often undetected in adults with Down syndrome (DS). Our objective was to determine the prevalence of sleep disorders in adults with DS through self-reported and objective sleep measures. METHODS: We performed a community-based cross-sectional study of 54 adults with DS not referred for sleep disorders. Two polysomnography (PSG) sleep studies were performed. Sleep quality was evaluated using the Pittsburgh Sleep Quality Index (PSQI); daytime sleepiness was evaluated using the Epworth Sleepiness Scale (ESS) and the risk for the sleep apnea syndrome (OSA) was identified using the Berlin Questionnaire (BQ). Participants’ sleep/wake pattern was assessed from sleep diaries and by wrist actigraphy. PSQI, ESS, and PSG measures were compared with 35 sex-, age-, and body mass index-matched patients in the control groups. RESULTS: In PSG measures, adults with DS showed lower sleep efficiency (69 +/- 17.7 versus 81.6 +/- 11; P < .001), less rapid eye movement sleep (9.4 +/- 5.8 versus 19.4 +/- 5.1; P < .001), a higher prevalence of OSA (78% versus 14%; P < .001), and a higher apnea-hypopnea index (23.5 +/- 24.5 versus 3.8 +/- 10.5; P < .001) than patients in the control group. In the DS group, the questionnaires (mean PSQI 3.7 +/- 2.9; mean ESS 6.3 +/- 4.5 and mean BQ 1 +/- 0) did not reflect the sleep disturbances detected on the PSG. Actigraphy data recorded daytime sleep that was not self-reported (118.2 +/- 104.2 minutes). CONCLUSIONS: Adults with DS show severe sleep disruption and a high prevalence of OSA, undetected by self-reported sleep measures. Actigraphy, PSG, and validated simplified devices for screening OSA should be routinely recommended for this population because treatment of sleep disorders can contribute to healthy aging.

TÍTULO / TITLE:   - An Ultra-miniaturized Near Infrared Spectroscopy System to Assess Sleep Apnea in Children with Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Conf Proc IEEE Eng Med Biol Soc. 2018 Jul;2018:2877-2880. doi: 10.1109/EMBC.2018.8513038.

Enlace a la Editora de la Revista http://dx.doi.org/10.1109/EMBC.2018.8513038

AUTORES / AUTHORS: - Beppler EC et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome is one of the health disorders that interferes with regular and healthy sleep. Most children with Down syndrome are referred to a sleep clinic for the assessment of the severity of their apnea. Regular polysomnography based assessment of apnea has been challenging with this sensitive patient population. We present our efforts towards developing a flexible adhesive bandage sized near infrared spectroscopy system (pediBand) for home-assessment of apnea in children with Down syndrome. Combined with inertial measurement units, pediBand record heart rate, heart rate variability, respiratory rate, arterial oxygen saturation and cerebral oxygen saturation. These are the essential parameters to assess sleep apnea and could also potentially be used in the assessment of sleep performance in general. A modified version of pediBand system was evaluated on adult patients and successfully demonstrated the changes in hemodynamic system triggered by sleep apnea.

TÍTULO / TITLE:   - Underlying factors of recurrent infections in patients with down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - North Clin Istanb. 2018 Jan 29;5(2):163-168. doi: 10.14744/nci.2017.69379. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.14744/nci.2017.69379

AUTORES / AUTHORS: - Patiroglu T;

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics and Immunology, Erciyes University Faculty of Medicine, Kayseri, Turkey. 

RESUMEN / SUMMARY: - Down syndrome is the most common chromosomal aberration. Patientswith Down syndrome suffer more infections than those without the disease. Underlying immunological disorders are considered to be the reason for the increasing frequency of infections in patients with Down syndrome. In addition, some anatomical abnormalities in the respiratory tract accompanying Down syndrome can disturb the innate immunity and contribute to the increase in infection rate. Respiratory tract infections are one of the most common causes of mortality in patients with Down syndrome. Awareness of the underlying reason for frequent respiratory tract infections should result in a decrease in mortality among these patients and contribute to an improvement in their quality of life.

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Intranasal rapamycin ameliorates Alzheimer-like cognitive decline in a mouse model of Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Transl Neurodegener. 2018 Nov 6;7:28. doi: 10.1186/s40035-018-0133-9. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.1186/s40035-018-0133-9

AUTORES / AUTHORS: - Tramutola A; et al.

INSTITUCIÓN / INSTITUTION: - Department of Biochemical Sciences, Sapienza University of Rome, P.le Aldo Moro 5, 00185 Rome, Italy.grid.7841. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) individuals, by the age of 40s, are at increased risk to develop Alzheimer-like dementia, with deposition in brain of senile plaques and neurofibrillary tangles. Our laboratory recently demonstrated the disturbance of PI3K/AKT/mTOR axis in DS brain, prior and after the development of Alzheimer Disease (AD). The aberrant modulation of the mTOR signalling in DS and AD age-related cognitive decline affects crucial neuronal pathways, including insulin signaling and autophagy, involved in pathology onset and progression. Within this context, the therapeutic use of mTOR-inhibitors may prevent/attenuate the neurodegenerative phenomena. By our work we aimed to rescue mTOR signalling in DS mice by a novel rapamycin intranasal administration protocol (InRapa) that maximizes brain delivery and reduce systemic side effects. Methods: Ts65Dn mice were administered with InRapa for 12 weeks, starting at 6 months of age demonstrating, at the end of the treatment by radial arms maze and novel object recognition testing, rescued cognition. Results: The analysis of mTOR signalling, after InRapa, demonstrated in Ts65Dn mice hippocampus the inhibition of mTOR (reduced to physiological levels), which led, through the rescue of autophagy and insulin signalling, to reduced APP levels, APP processing and APP metabolites production, as well as, to reduced tau hyperphosphorylation. In addition, a reduction of oxidative stress markers was also observed. Discussion: These findings demonstrate that chronic InRapa administration is able to exert a neuroprotective effect on Ts65Dn hippocampus by reducing AD pathological hallmarks and by restoring protein homeostasis, thus ultimately resulting in improved cognition. Results are discussed in term of a potential novel targeted therapeutic approach to reduce cognitive decline and AD-like neuropathology in DS individuals.

TÍTULO / TITLE:   - Parent-mediated interventions for promoting communication and language development in young children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Cochrane Database Syst Rev. 2018 Oct 15;10:CD012089. doi: 10.1002/14651858.CD012089.pub2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/14651858.CD012089.pub2

AUTORES / AUTHORS: - OToole C; et al.

INSTITUCIÓN / INSTITUTION: - Department of Speech and Hearing Sciences, University College Cork, Brookfield Health Sciences Complex, College Road, Cork, Ireland. 

RESUMEN / SUMMARY: - Communication and language development are areas of particular weakness for young children with Down syndrome. Caregivers’ interaction with children influences language development, so many early interventions involve training parents how best to respond to their children and provide appropriate language stimulation. Thus, these interventions are mediated through parents, who in turn are trained and coached in the implementation of interventions by clinicians. As the interventions involve a considerable commitment from clinicians and families, we undertook this review to synthesise the evidence of their effectiveness. OBJECTIVES: To assess the effects of parent-mediated interventions for improving communication and language development in young children with Down syndrome. Other outcomes are parental behaviour and responsivity, parental stress and satisfaction, and children’s non-verbal means of communicating, socialisation and behaviour. SEARCH METHODS: In January 2018 we searched CENTRAL, MEDLINE, Embase and 14 other databases. We also searched three trials registers, checked the reference lists of relevant reports identified by the electronic searches, searched the websites of professional organizations, and contacted their staff and other researchers working in the field to identify other relevant published, unpublished and ongoing studies. SELECTION CRITERIA: We included randomised controlled trials (RCTs) and quasi-RCTs that compared parent-mediated interventions designed to improve communication and language versus teaching/treatment as usual (TAU) or no treatment or delayed (wait-listed) treatment, in children with Down syndrome aged between birth and six years. We included studies delivering the parent-mediated intervention in conjunction with a clinician-mediated intervention, as long as the intervention group was the only group to receive the former and both groups received the latter. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methodological

Education - Educación

TÍTULO / TITLE:   - Verbal Agreement Inflection in German Children With Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Speech Lang Hear Res. 2018 Sep 19;61(9):2217-2234. doi: 10.1044/2018_JSLHR-L-17-0241.

Enlace a la Editora de la Revista http://dx.doi.org/10.1044/2018_JSLHR-L-17-0241

AUTORES / AUTHORS: - Penke M;

INSTITUCIÓN / INSTITUTION: - Department of Special Education and Rehabilitation, University of Cologne, Germany. 

RESUMEN / SUMMARY: - Purpose: The study aims to explore whether finite verbal morphology is affected in children/adolescents with Down syndrome (DS), whether observed deficits in this domain are indicative of a delayed or deviant development, and whether they are due to phonetic/phonological problems or deficits in phonological short-term memory. Method: An elicitation task on subject-verb agreement, a picture-naming task targeting stem-final consonants that also express verbal agreement, a nonword repetition task, and a test on grammar comprehension were conducted with 2 groups of monolingual German children: 32 children/adolescents with DS (chronological age M = 11;01 [years;months]) and a group of 16 typically developing children (chronological age M = 4;00) matched on nonverbal mental age. Results: Analyses reveal that a substantial number of children/adolescents with DS are impaired in marking verbal agreement and fail to reach an acquisition criterion. The production of word-final consonants succeeds, however, when these consonants do not express verbal agreement. Performance with verbal agreement and nonword repetition are related. Conclusions: Data indicate that a substantial number of children/adolescents with DS display a deficit in verbal agreement inflection that cannot be attributed to phonetic/phonological problems. The influence of phonological short-term memory on the acquisition of subject-verb agreement has to be further explored.

TÍTULO / TITLE:   - Correlates of early cognition in infants with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Intellect Disabil Res. 2018 Nov 21. doi: 10.1111/jir.12566.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/jir.12566

AUTORES / AUTHORS: - Fidler DJ ... Daunhauer LA;

INSTITUCIÓN / INSTITUTION: - Human Development and Family Studies, Colorado State University, Fort Collins, CO, USA. 

RESUMEN / SUMMARY: - : BACKGROUND: While delays in cognitive development are detectable during early development in Down syndrome, the neuropsychological and biomedical underpinnings of cognitive skill acquisition in this population remain poorly understood. METHOD: To explore this issue, 38 infants with Down syndrome [mean chronological age = 9.65 months; SD = 3.64] completed the Bayley Scales of Infant Development-III and a set of laboratory tasks that measured sustained attention (duration of visual attention during a 1-min object exploration task), attention shifting (mean latency to shift attention on an alternating object presentation task) and visual short-term memory (dishabituation to a novel object on a change preference task). RESULTS: Latency to shift attention was negatively associated with Bayley Cognitive Scale raw scores, even when controlling for the effects of chronological age, r (33) = -.41, P = .02. In addition, prematurity status was associated with latency to shift attention. CONCLUSIONS: Early attention shifting may be an important factor that facilitates overall cognitive skill acquisition in infants with Down syndrome, and premature birth may be a risk factor for difficulties on this dimension.

TÍTULO / TITLE:   - Web Page Design Recommendations for People with Down Syndrome Based on Users’ Experiences.

Enlace al Resumen

REVISTA / JOURNAL:    - Sensors (Basel). 2018 Nov 20;18(11). pii: s18114047. doi: 10.3390/s18114047.

Enlace a la Editora de la Revista http://dx.doi.org/10.3390/s18114047

AUTORES / AUTHORS: - Alonso-Virgos L; et al.

INSTITUCIÓN / INSTITUTION: - School of Engineering and Technology, Universidad Internacional de La Rioja, Avda. de la Paz, 137, 26006 Logroño, La Rioja, España 

RESUMEN / SUMMARY: - At present, there is a high number of people with Down syndrome interested and trained to be an active part of society. According to the data extracted by our surveys we know that only 6% of the population with Down syndrome feels isolated in daily activities. However, when the activity requires the use of a computer, the percentage of people who feel isolated increases to 18%. This means that there are obvious website accessibility barriers that make it difficult for users with Down syndrome. To solve this problem, it is considered necessary to make an exhaustive study about Down syndrome. We know that the trisomy of chromosome 21 causes a series of symptoms that directly affect ones Internet browsing capabilities. For example, speech disturbances make communication and speed difficult. This guide is based on a neurological study of Down syndrome. Alterations in listening make understanding audio, retention of audio concepts and speed difficult. The alterations in the physiognomy of movement make it difficult for them to act quickly. Many of these alterations are caused by cognitive disability. After assessing the needs, the benefits of Web Content Accessibility Guidelines 2.0 (WCAG 2.0), and the existing usability guidelines are analyzed and those that may be useful for this profile are extracted. User tests are carried out through two websites developed specifically for this study with the aim of demonstrating the level of effectiveness of each of the planned guidelines. Considering the neurological characteristics of this intellectual disability, research is developed that seeks to extract a list of useful accessibility and usability guidelines for web developers.

TÍTULO / TITLE:   - Specificity: A Phenotypic Comparison of Communication-Relevant Domains Between Youth With Down Syndrome and Fragile X Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Front Genet. 2018 Oct 1;9:424. doi: 10.3389/fgene.2018.00424. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fgene.2018.00424

AUTORES / AUTHORS: - Del Hoyo Soriano L; ... Abbeduto L.

INSTITUCIÓN / INSTITUTION: - MIND Institute, University of California, Davis, Sacramento, CA, United States Department of Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA, United States. 

RESUMEN / SUMMARY: - Despite the shared presence of an intellectual disability (ID), there is a growing literature documenting important phenotypic differences between Down syndrome (DS) and fragile X syndrome (FXS). These conclusions, however, are based on a synthesis across studies, each of which typically includes only measures of a limited number of constructs, and with differing participant characteristics. Firmer conclusions regarding specific phenotypes require a single comprehensive multi-domain assessment of participants with the syndrome groups being well matched on chronological age (CA) and cognitive functioning. The current study was designed to fill this gap by assessing several important cognitive and behavioral domains relevant to communication, such as: structural language skills, false belief understanding, as well as pragmatics and behavioral difficulties, in 30 adolescents of both sexes with DS and 39 males with FXS, matched on CA and nonverbal (NV) cognition. After statistically controlling for NV cognition, we did not find significant syndrome differences in expressive and receptive structural language or false belief understanding. In contrast, participants with DS displayed less stereotyped language and fewer behavioral difficulties compared to males with FXS. Within-syndrome associations among the targeted domains are described. Finally, females with DS were less impaired than males with DS in almost all structural language domains, whereas no significant sex-related differences were observed in NV cognition, false belief understanding, pragmatics, or behavior. Clinical and methodological implications of the findings are discussed.

TÍTULO / TITLE:   - Low-Resolution Place and Response Learning Capacities in Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Front Psychol. 2018 Oct 26;9:2049. doi: 10.3389/fpsyg.2018.02049. eCollection 2018.

Enlace a la Editora de la Revista http://dx.doi.org/10.3389/fpsyg.2018.02049

AUTORES / AUTHORS: - Bostelmann M; et al.

INSTITUCIÓN / INSTITUTION: - Laboratory of Brain and Cognitive Development, Institute of Psychology, University of Lausanne, Lausanne, Switzerland. 

RESUMEN / SUMMARY: - Down syndrome (DS), the most common genetic cause of intellectual disability, results from the partial or complete triplication of chromosome 21. Individuals with DS are impaired at using a high-resolution, allocentric spatial representation to learn and remember discrete locations in a controlled environment. Here, we assessed the capacity of individuals with DS to perform low-resolution spatial learning, depending on two competing memory systems: (1) the place learning system, which depends on the hippocampus and creates flexible relational representations of the environment; and (2) the response learning system, which depends on the striatum and creates fixed stimulus-response representations of behavioral actions. Individuals with DS exhibited a preservation of the low-resolution spatial learning capacities subserved by these two systems. In place learning, although the average performance of individuals with DS was lower than that of typically developing (TD) mental age (MA)-matched children and TD young adults, the number of individuals with DS performing above chance level did not differ from TD children. In response learning, the average performance of individuals with DS was lower than that of TD adults, but it did not differ from that of TD children. Moreover, the number of individuals with DS performing above chance level did not differ from TD adults, and was higher than that of TD children. In sum, whereas low-resolution place learning appears relatively preserved in individuals with DS, response learning appears facilitated. Our findings are consistent with the hypothesis that the neural pathways supporting low-resolution place learning and response learning are relatively preserved in DS.

TÍTULO / TITLE:   - Parent-mediated interventions for promoting communication and language development in young children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Cochrane Database Syst Rev. 2018 Oct 15;10:CD012089. doi: 10.1002/14651858.CD012089.pub2.

Enlace a la Editora de la Revista http://dx.doi.org/10.1002/14651858.CD012089.pub2

AUTORES / AUTHORS: - OToole C; et al.

INSTITUCIÓN / INSTITUTION: - Department of Speech and Hearing Sciences, University College Cork, Brookfield Health Sciences Complex, College Road, Cork, Ireland. 

RESUMEN / SUMMARY: - Communication and language development are areas of particular weakness for young children with Down syndrome. Caregivers’ interaction with children influences language development, so many early interventions involve training parents how best to respond to their children and provide appropriate language stimulation. Thus, these interventions are mediated through parents, who in turn are trained and coached in the implementation of interventions by clinicians. As the interventions involve a considerable commitment from clinicians and families, we undertook this review to synthesise the evidence of their effectiveness. OBJECTIVES: To assess the effects of parent-mediated interventions for improving communication and language development in young children with Down syndrome. Other outcomes are parental behaviour and responsivity, parental stress and satisfaction, and children’s non-verbal means of communicating, socialisation and behaviour. SEARCH METHODS: In January 2018 we searched CENTRAL, MEDLINE, Embase and 14 other databases. We also searched three trials registers, checked the reference lists of relevant reports identified by the electronic searches, searched the websites of professional organizations, and contacted their staff and other researchers working in the field to identify other relevant published, unpublished and ongoing studies. SELECTION CRITERIA: We included randomised controlled trials (RCTs) and quasi-RCTs that compared parent-mediated interventions designed to improve communication and language versus teaching/treatment as usual (TAU) or no treatment or delayed (wait-listed) treatment, in children with Down syndrome aged between birth and six years. We included studies delivering the parent-mediated intervention in conjunction with a clinician-mediated intervention, as long as the intervention group was the only group to receive the former and both groups received the latter. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methodological

TÍTULO / TITLE:   - Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project.

Enlace al Resumen

REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2018 Nov;123(6):514-528. doi: 10.1352/1944-7558-123.6.514.

Enlace a la Editora de la Revista http://dx.doi.org/10.1352/1944-7558-123.6.514

AUTORES / AUTHORS: - Rosser TC; et al.

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - The cause of the high degree of variability in cognition and behavior among individuals with Down syndrome (DS) is unknown. We hypothesized that birth defects requiring surgery in the first years of life (congenital heart defects and gastrointestinal defects) might affect an individual’s level of function. We used data from the first 234 individuals, age 6-25 years, enrolled in the Down Syndrome Cognition Project (DSCP) to test this hypothesis. Data were drawn from medical records, parent interviews, and a cognitive and behavior assessment battery. Results did not support our hypothesis. That is, we found no evidence that either birth defect was associated with poorer outcomes, adjusting for gender, race/ethnicity, and socioeconomic status. Implications for study design and measurement are discussed.

TÍTULO / TITLE:   - REM sleep in naps differentially relates to memory consolidation in typical preschoolers and children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Proc Natl Acad Sci U S A. 2018 Nov 13;115(46):11844-11849. doi: 10.1073/pnas.1811488115. Epub 2018 O

Enlace a la Editora de la Revista http://dx.doi.org/10.1073/pnas.1811488115

AUTORES / AUTHORS: - Spano G ... Edgin JO;

INSTITUCIÓN / INSTITUTION: - Department of Psychology, University of Arizona, Tucson, AZ 85721; 

RESUMEN / SUMMARY: - Sleep is recognized as a physiological state associated with learning, with studies showing that knowledge acquisition improves with naps. Little work has examined sleep-dependent learning in people with developmental disorders, for whom sleep quality is often impaired. We examined the effect of natural, in-home naps on word learning in typical young children and children with Down syndrome (DS). Despite similar immediate memory retention, naps benefitted memory performance in typical children but hindered performance in children with DS, who retained less when tested after a nap, but were more accurate after a wake interval. These effects of napping persisted 24 h later in both groups, even after an intervening overnight period of sleep. During naps in typical children, memory retention for object-label associations correlated positively with percent of time in rapid eye movement (REM) sleep. However, in children with DS, a population with reduced REM, learning was impaired, but only after the nap. This finding shows that a nap can increase memory loss in a subpopulation, highlighting that naps are not universally beneficial. Further, in healthy preschooler’s naps, processes in REM sleep may benefit learning.

TÍTULO / TITLE:   - A Multimethod Analysis of Pragmatic Skills in Children and Adolescents With Fragile X Syndrome, Autism Spectrum Disorder, and Down Syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - J Speech Lang Hear Res. 2018 Nov 9:1-15. doi: 10.1044/2018_JSLHR-L-18-0008.

Enlace a la Editora de la Revista http://dx.doi.org/10.1044/2018_JSLHR-L-18-0008

AUTORES / AUTHORS: - Martin GE; et al.

INSTITUCIÓN / INSTITUTION: - Department of Communication Sciences and Disorders, St. John’s University, Staten Island, NY. 

RESUMEN / SUMMARY: - Purpose: Pragmatic language skills are often impaired above and beyond general language delays in individuals with neurodevelopmental disabilities. This study used a multimethod approach to language sample analysis to characterize syndrome- and sex-specific profiles across different neurodevelopmental disabilities and to examine the congruency of 2 analysis techniques. Method: Pragmatic skills of young males and females with fragile X syndrome with autism spectrum disorder (FXS-ASD, n = 61) and without autism spectrum disorder (FXS-O, n = 40), Down syndrome (DS, n = 42), and typical development (TD, n = 37) and males with idiopathic autism spectrum disorder only (ASD-O, n = 29) were compared using variables obtained from a detailed hand-coding system contrasted with similar variables obtained automatically from the language analysis program Systematic Analysis of Language Transcripts (SALT). Results: Noncontingent language and perseveration were characteristic of the pragmatic profiles of boys and girls with FXS-ASD and boys with ASD-O. Boys with ASD-O also initiated turns less often and were more nonresponsive than other groups, and girls with FXS-ASD were more nonresponsive than their male counterparts. Hand-coding and SALT methods were largely convergent with some exceptions. Conclusion: Results suggest both similarities and differences in the pragmatic profiles observed across different neurodevelopmental disabilities, including idiopathic and FXS-associated cases of ASD, as well as an important sex difference in FXS-ASD. These findings and congruency between the 2 language sample analysis techniques together have important implications for assessment and intervention efforts.

TÍTULO / TITLE:   - More severe intellectual disability was found in teenagers than younger children with Down syndrome.

Enlace al Resumen

REVISTA / JOURNAL:    - Acta Paediatr. 2018 Oct 29. doi: 10.1111/apa.14624.

Enlace a la Editora de la Revista http://dx.doi.org/10.1111/apa.14624

AUTORES / AUTHORS: - Wester Oxelgren U et al.

INSTITUCIÓN / INSTITUTION: - Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden. Department of Psychology, Stockholm University, Stockholm, Sweden 

RESUMEN / SUMMARY: - AIM: We investigated the severities and profiles of intellectual disability (ID) in a population-based group of children with Down syndrome and related the findings to coexisting autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). METHODS: There were about 100 children with Down syndrome living in Uppsala county, Sweden, at the time of the study who all received medical services from the same specialist outpatient clinic. The 60 children (68% male) were aged 5-17 years at inclusion: 41 were assessed within the study and 19 had test results from previous assessments, performed within three years before inclusion. We compared two age groups: 5-12 and 13-18 years old. RESULTS: Of the 60 children, 49 were assessed with a cognitive test and the 11 children who could not participate in formal tests had clinical assessments. Mild ID was found in 9% of the older children and in 35% of the younger children. Severe ID was found in 91% of the older children and 65% of the younger children. Verbal and non-verbal domains did not differ. CONCLUSION: Intellectual level was lower in the older children and patients with Down syndrome need to be followed during childhood with regard to their ID levels. 

TÍTULO / TITLE:   - Small Sets of Novel Words Are Fully Retained After 1-Week in Typically Developing Children and Down Syndrome: A Fast Mapping Study.

Enlace al Resumen

REVISTA / JOURNAL:    - J Int Neuropsychol Soc. 2018 Oct;24(9):955-965. doi: 10.1017/S1355617718000450.

Enlace a la Editora de la Revista http://dx.doi.org/10.1017/S1355617718000450

AUTORES / AUTHORS: - Sakhon S;... Edgin J;

INSTITUCIÓN / INSTITUTION: - Department of Psychology,University of Arizona,Tucson, Arizona. 

RESUMEN / SUMMARY: - OBJECTIVES: Down syndrome (DS) is a population with known hippocampal impairment, with studies showing that individuals with DS display difficulties in spatial navigation and remembering arbitrary bindings. Recent research has also demonstrated the importance of the hippocampus for novel word-learning. Based on these data, we aimed to determine whether individuals with DS show deficits in learning new labels and if they may benefit from encoding conditions thought to be less reliant on hippocampal function (i.e., through fast mapping). METHODS: In the current study, we examined immediate, 5-min, and 1-week delayed word-learning across two learning conditions (e.g., explicit encoding vs. fast mapping). These conditions were examined across groups (twenty-six 3- to 5-year-old typically developing children and twenty-six 11- to 28-year-old individuals with DS with comparable verbal and nonverbal scores on the Kaufman Brief Intelligence Test - second edition) and in reference to sleep quality. RESULTS: Both individuals with and without DS showed retention after a 1-week delay, and the current study found no benefit of the fast mapping condition in either group contrary to our expectations. Eye tracking data showed that preferential eye movements to target words were not present immediately but emerged after 1-week in both groups. Furthermore, sleep measures collected via actigraphy did not relate to retention in either group. CONCLUSIONS: This study presents novel data on long-term knowledge retention in reference to sleep patterns in DS and adds to a body of knowledge helping us to understand the processes of word-learning in typical and atypically developing populations. (JINS, 2018, 24, 955-965).

 Realizar busqueda