Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders.
Abstract Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders (CND) can inform research in the biobehavioural origins and treatment of CND. The goal of this research was to use measures and analytics in a diagnostic classification system to estimate the prevalence of speech and motor speech disorders in convenience samples of speakers with one of eight types of CND. Audio-recorded conversational speech samples from 346 participants with one of eight types of CND were obtained from a database of participants recruited for genetic and behavioural studi...
Source: Clinical Linguistics and Phonetics - June 23, 2019 Category: Speech-Language Pathology Authors: Shriberg LD, Strand EA, Jakielski KJ, Mabie HL Tags: Clin Linguist Phon Source Type: research

Speech and motor speech disorders and intelligibility in adolescents with Down syndrome.
Abstract The goal of this research was to assess the support for motor speech disorders as explanatory constructs to guide research and treatment of reduced intelligibility in persons with Down syndrome (DS). Participants were the 45 adolescents with DS in the prior paper who were classified into five mutually-exclusive motor speech classifications using the Speech Disorders Classification System. An ordinal index classified participants' percentage of intelligible words in conversation as High (≥ 85%), Moderate (80% - 84.9%), or Low (
Source: Clinical Linguistics and Phonetics - June 23, 2019 Category: Speech-Language Pathology Authors: Wilson EM, Abbeduto L, Camarata SM, Shriberg LD Tags: Clin Linguist Phon Source Type: research

Estimates of the prevalence of speech and motor speech disorders in adolescents with Down syndrome.
Abstract Although there is substantial rationale for a motor component in the speech of persons with Down syndrome (DS), there presently are no published estimates of the prevalence of subtypes of motor speech disorders in DS. The goal of this research is to provide initial estimates of the prevalence of types of speech disorders and motor speech disorders in adolescents with DS. Conversational speech samples from a convenience sample of 45 adolescents with DS, ages 10 to 20 years old, were analysed using perceptual and acoustic methods and measures in the Speech Disorders Classification System (SDCS). The SD...
Source: Clinical Linguistics and Phonetics - June 23, 2019 Category: Speech-Language Pathology Authors: Wilson EM, Abbeduto L, Camarata SM, Shriberg LD Tags: Clin Linguist Phon Source Type: research

GSE126910 mTOR hyperactivation in Down Syndrome mediates deficits in autophagy induction, autophagosome formation, and mitophagy
Contributors : Matteo Bordi ; Sandipkumar Darji ; Yutaka Sato ; Marian Mell én ; Martin J Berg ; Asok Kumar ; Ying Jiang ; Ralph A NixonSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensDown syndrome (DS), a complex genetic disorder caused by chromosome 21 trisomy, is associated with mitochondrial dysfunction leading to the accumulation of damaged mitochondria. Here we report that mitophagy, a form of selective autophagy activated to clear damaged mitochondria is deficient in primary human fibroblasts derived from individuals with DS leading to accumulation of damaged mitochondri...
Source: GEO: Gene Expression Omnibus - June 22, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Transient leukemia of Down syndrome
. (Source: Critical Reviews in Clinical Laboratory Sciences)
Source: Critical Reviews in Clinical Laboratory Sciences - June 21, 2019 Category: Laboratory Medicine Authors: Valentina Sas Cristina Blag Gabriela Zaharie Emil Puscas Cosmin Lisencu Nicolae Andronic-Gorcea Sergiu Pasca Bobe Petrushev Irina Chis Mirela Marian Delia Dima Patric Teodorescu Sabina Iluta Mihnea Zdrenghea Ioana Berindan-Neagoe Gheorghe Popa Sorin Man A Source Type: research

Neonatal hemochromatosis in a newborn with Down syndrome.
Conclusion: Though TMD is a common cause of liver dysfunction in Down syndrome, NH should also be considered in its differential. PMID: 31215296 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - June 20, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country
Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery.What is Known:•The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries.•In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome.What is New:•In middle-inc...
Source: European Journal of Pediatrics - June 20, 2019 Category: Pediatrics Source Type: research

Claims about medical malpractices resulting in neonatal and maternal impairment in Iran
ConclusionConsidering this fact that medical malpractice was confirmed in a large proportion of some preventable and important complications, therefore, results of this study can be used for developing educational programs for related healthcare providers to prevent those complications. (Source: Journal of Forensic and Legal Medicine)
Source: Journal of Forensic and Legal Medicine - June 18, 2019 Category: Forensic Medicine Source Type: research

Claims about medical malpractices resulting in neonatal and maternal impairment in Iran in 2 years
ConclusionConsidering this fact that medical malpractice was confirmed in a large proportion of some preventable and important complications, therefore, results of this study can be used for developing educational programs for related healthcare providers to prevent those complications. (Source: Journal of Forensic and Legal Medicine)
Source: Journal of Forensic and Legal Medicine - June 17, 2019 Category: Forensic Medicine Source Type: research

Description of School-Based Physical Therapy Services and Outcomes for Students with Down Syndrome.
Abstract Students with Down syndrome (DS) receive school-based physical therapy (SBPT), however little data exists regarding services and outcomes. Using a prospective observational cohort study our aim was to explore SBPT activities and interventions, and students' goal achievement of 46 students with DS, tracked by 17 physical therapists (PTs). PTs provided on average 24.0 min/week direct service and 11.6 min/week services on behalf of the student. The most frequent activities employed were physical education/recreation, mobility, and sitting/standing/transitions. The most frequent interventions implem...
Source: Journal of Autism and Developmental Disorders - June 17, 2019 Category: Psychiatry Authors: Neal GE, Effgen SK, Arnold S, Baldwin J, Jeffries LM Tags: J Autism Dev Disord Source Type: research

From Basic Visual Science to Neurodevelopmental Disorders: The Voyage of Environmental Enrichment-Like Stimulation.
Abstract Genes and environmental stimuli cooperate in the regulation of brain development and formation of the adult neuronal architecture. Genetic alterations or exposure to perturbing environmental conditions, therefore, can lead to altered neural processes associated with neurodevelopmental disorders and brain disabilities. In this context, environmental enrichment emerged as a promising and noninvasive experimental treatment for favoring recovery of cognitive and sensory functions in different neurodevelopmental disorders. The aim of this review is to depict, mainly through the much explicative examples of amb...
Source: Neural Plasticity - June 16, 2019 Category: Neurology Authors: Consorti A, Sansevero G, Torelli C, Berardi N, Sale A Tags: Neural Plast Source Type: research

Hyperuricemia in Children and Adolescents: Present Knowledge and Future Directions.
Authors: Kubota M Abstract Recent evidence suggests that hyperuricemia is an important condition in children and adolescents, particularly in association with noncommunicable diseases. This review aims to summarize our current understanding of this condition in pediatric patients. An analysis of serum uric acid reference values in a healthy population indicates that they increase gradually with age until adolescence, with differences between the sexes arising at about 12 years of age. This information should be taken into consideration when defining hyperuricemia in studies. Gout is extremely rare in childre...
Source: Journal of Nutrition and Metabolism - June 15, 2019 Category: Nutrition Tags: J Nutr Metab Source Type: research

Abnormalities of the Optic Nerve in Down Syndrome and Associations With Visual Acuity
Background: Various ocular anomalies are present in the vast majority of individuals with Down syndrome; however, we know little about optic nerve abnormalities. The aim of this cross-sectional comparative study was to describe optic disc morphology in patients with Down syndrome and to determine if the differences found are potentially related to visual acuity. Subjects/methods: Assessable fundus images were obtained in 50 children with Down syndrome and 52 children without Down syndrome. Morphological analysis of the optic nerve was performed, including the disc-to-macula distance (DM) to disc diameter (DD) ratio (DM...
Source: Frontiers in Neurology - June 14, 2019 Category: Neurology Source Type: research

Assessing the Efficacy of Very Early Motor Rehabilitation in Children with Down Syndrome
Among children with Down syndrome, the frequency of motor rehabilitation intervention and the age at the start of this intervention are independently related to the age at onset of independent walking. Early motor rehabilitation, before age 6  months, may be effective in reducing motor delay in children with Down syndrome. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - June 14, 2019 Category: Pediatrics Authors: Seigo Okada, Takahiro Uejo, Reiji Hirano, Haruka Nishi, Ikuko Matsuno, Takeshi Muramatsu, Mayu Fujiwara, Akiko Miyake, Yusuke Okada, Shinnosuke Fukunaga, Yuichi Ishikawa Tags: Brief Reports Source Type: research

Modeling the Relations Among Sustained Attention, Short-Term Memory, and Language in Down Syndrome
American Journal on Intellectual and Developmental Disabilities,Volume 124, Issue 4, Page 293-308, July 2019. (Source: American Journal on Intellectual and Developmental Disabilities)
Source: American Journal on Intellectual and Developmental Disabilities - June 14, 2019 Category: Disability Authors: Gayle G. Faught Frances A. Conners Source Type: research

Auditory-Perceptual Speech Features in Children With Down Syndrome
American Journal on Intellectual and Developmental Disabilities,Volume 124, Issue 4, Page 324-338, July 2019. (Source: American Journal on Intellectual and Developmental Disabilities)
Source: American Journal on Intellectual and Developmental Disabilities - June 14, 2019 Category: Disability Authors: Harrison N. Jones Kelly D. Crisp Maragatha Kuchibhatla Leslie Mahler Thomas Risoli Carlee W. Jones Priya Kishnani Source Type: research

A Novel Framework to Measure Executive Function in Down Syndrome With Applications for Early Clinical Diagnosis of Dementia
American Journal on Intellectual and Developmental Disabilities,Volume 124, Issue 4, Page 354-373, July 2019. (Source: American Journal on Intellectual and Developmental Disabilities)
Source: American Journal on Intellectual and Developmental Disabilities - June 14, 2019 Category: Disability Authors: Elizabeth Smith Craig Hedge Christopher Jarrold Source Type: research

Modeling the Relations Among Sustained Attention, Short-Term Memory, and Language in Down Syndrome
American Journal on Intellectual and Developmental Disabilities,Volume 124, Issue 4, Page 293-308, July 2019. (Source: American Journal on Intellectual and Developmental Disabilities)
Source: American Journal on Intellectual and Developmental Disabilities - June 14, 2019 Category: Disability Authors: Gayle G. Faught Frances A. Conners Source Type: research

Auditory-Perceptual Speech Features in Children With Down Syndrome
American Journal on Intellectual and Developmental Disabilities,Volume 124, Issue 4, Page 324-338, July 2019. (Source: American Journal on Intellectual and Developmental Disabilities)
Source: American Journal on Intellectual and Developmental Disabilities - June 14, 2019 Category: Disability Authors: Harrison N. Jones Kelly D. Crisp Maragatha Kuchibhatla Leslie Mahler Thomas Risoli Carlee W. Jones Priya Kishnani Source Type: research

A Novel Framework to Measure Executive Function in Down Syndrome With Applications for Early Clinical Diagnosis of Dementia
American Journal on Intellectual and Developmental Disabilities,Volume 124, Issue 4, Page 354-373, July 2019. (Source: American Journal on Intellectual and Developmental Disabilities)
Source: American Journal on Intellectual and Developmental Disabilities - June 14, 2019 Category: Disability Authors: Elizabeth Smith Craig Hedge Christopher Jarrold Source Type: research

Selective expression of a “correct cloud” of Dscam in crayfish survivors after second exposure to the same pathogen
Publication date: Available online 12 June 2019Source: Fish & Shellfish ImmunologyAuthor(s): Tze Hann Ng, Ramya Kumar, Kantamas Apitanyasai, Shu-Ting He, Shen-Po Chiu, Han-Ching WangAbstractArthropod hypervariable Dscam (Down syndrome cell adhesion molecule) may be involved in adaptive-like immune characteristics, namely immune priming, enabling the host to “learn” and “remember” pathogens previously encountered in arthropods. However, expression of Dscam in immune-primed arthropods after a second challenge has apparently not been confirmed. Herein, working with Dscam of Australian freshwater cr...
Source: Fish and Shellfish Immunology - June 12, 2019 Category: Biology Source Type: research

Cross-Sectional Study of Arterial Stiffness in Adolescents with Down Syndrome
To test whether youth with Down syndrome  have aortic stiffness indices, as measured by pulse wave velocity (PWV), that differ from youth without Down syndrome and to compare reference-based age-adjusted (age-PWV-Z) and height-adjusted (Ht-PWV-Z) in youth with and without Down syndrome. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - June 11, 2019 Category: Pediatrics Authors: Andrea Kelly, Sheela N. Magge, Rachel Walega, Claire Cochrane, Mary E. Pipan, Babette S. Zemel, Meryl S. Cohen, Samuel S. Gidding, Ray Townsend Tags: Original Article Source Type: research

Benefits of curcumin in brain disorders
AbstractCurcumin is widely consumed in Asia either as turmeric directly or as one of the culinary ingredients in food recipes. The benefits of curcumin in different organ systems have been reported extensively in several neurological diseases and cancer. Curcumin has got its global recognition because of its strong antioxidant, anti ‐inflammatory, anti‐cancer, and antimicrobial activities. Additionally, it is used in diabetes and arthritis as well as in hepatic, renal, and cardiovascular diseases. Recently, there is growing attention on usage of curcumin to prevent or delay the onset of neurodegenerative diseases. This...
Source: BioFactors - June 11, 2019 Category: Biochemistry Authors: Abid Bhat, Arehally M. Mahalakshmi, Bipul Ray, Sunanda Tuladhar, Tousif A. Hediyal, Esther Manthiannem, Jagadeeswari Padamati, Ramesh Chandra, Saravana B. Chidambaram, Meena K. Sakharkar Tags: REVIEW ARTICLE Source Type: research

Comparative analysis of the DYRK1A-SRSF6-TNNT2 pathway in myocardial tissue from individuals with and without Down syndrome.
co JG Abstract Down syndrome (trisomy 21) is characterized by genome-wide imbalances that result in a range of phenotypic manifestations. Altered expression of DYRK1A in the trisomic context has been linked to some Down syndrome phenotypes. DYRK1A regulates the splicing of cardiac troponin (TNNT2) through a pathway mediated by the master splicing factor SRSF6. Here, we documented the expression of the DYRK1A-SRSF6-TNNT2 pathway in a collection of myocardial samples from persons with and without Down syndrome. Results suggest that "gene dosage effect" may drive the expression of DYRK1A mRNA but has no eff...
Source: Experimental and Molecular Pathology - June 11, 2019 Category: Pathology Authors: Lombraña AQ, Blanco JG Tags: Exp Mol Pathol Source Type: research

Changes in Body Composition and Physical Fitness in Adolescents with Down Syndrome: The UP & DOWN Longitudinal Study.
Changes in Body Composition and Physical Fitness in Adolescents with Down Syndrome: The UP&DOWN Longitudinal Study. Child Obes. 2019 Jun 06;: Authors: Suarez-Villadat B, Veiga OL, Villagra A, Izquierdo-Gomez R, UP&DOWN Study Group Abstract Background: Adolescents with Down syndrome (DS) demonstrate higher values of body composition and lower levels of physical fitness when compared with their peers with typically developing (TD) or their peers with intellectual disability but without DS. Objective: To examine, during a 2-year period, changes in indicators of body composition and physical fi...
Source: Childhood Obesity - June 8, 2019 Category: Eating Disorders & Weight Management Tags: Child Obes Source Type: research

Vitamin D3 increases the Caspase-3 p12, MTHFR, and P-glycoprotein reducing amyloid-β42 in the kidney of a mouse model for Down syndrome
Publication date: Available online 6 June 2019Source: Life SciencesAuthor(s): Fabiana de Campos Gomes, João Simão de Melo-Neto, Merari de Fátima Ramires Ferrari, Carla Patrícia Carlos, Eny Maria Goloni-Bertollo, Érika Cristina PavarinoAbstractAimsRenal dysfunction has been reported in individuals with Down syndrome (DS); however, the causes and mechanisms involved remain unknown. Here, we present a proposal for how the triplication of the amyloid beta precursor protein (APP) and, mainly the amyloid β peptide 1–42 (Aβ42) can favor the development of renal abnormalities in D...
Source: Life Sciences - June 8, 2019 Category: Biology Source Type: research

Effect of epigallocatechin gallate on the body composition and lipid profile of Down syndrome individuals: implications for clinical management
Individuals with Down syndrome (DS) have higher rates of obesity. In the general population green tea extracts, and in particular epigallocatechin gallate (EGCG), have been studied for their antiobesogenic effects. The aim of this study is to elucidate the effect of EGCG on body weight in young DS adults and whether it could be related to changes in lipid profile. (Source: Clinical Nutrition)
Source: Clinical Nutrition - June 8, 2019 Category: Nutrition Authors: Laura Xicota, Joan Rodr íguez, Klaus Langohr, Montserrat Fitó, Mara Dierssen, Rafael de la Torre, the TESDAD study group Source Type: research

Dosage Counts: Correcting Trisomy-21-Related Phenotypes in Human Organoids and Xenografts.
Abstract Studies in mice suggest that Olig2 gene dosage alters cerebral cortical interneuron development and contributes to trisomy-21/Down-syndrome-related intellectual disability. Xu et al. (2019) extend these studies through the remarkable use of cerebral organoid and human iPSC/mouse brain chimera experimental systems that provide an opportunity for the development of novel therapeutics. PMID: 31173710 [PubMed - in process] (Source: Cell Stem Cell)
Source: Cell Stem Cell - June 6, 2019 Category: Stem Cells Authors: Manley WF, Anderson SA Tags: Cell Stem Cell Source Type: research

Mothers of a child with Down syndrome: A qualitative analysis of the perspectives on non-invasive prenatal testing.
CONCLUSION: Mothers of a child with DS viewed informed decision-making as crucial both prior to undertaking NIPT and following a positive test result. This study adds a unique Australian perspective to the necessary ongoing social and ethical debate. PMID: 31202107 [PubMed - as supplied by publisher] (Source: Midwifery)
Source: Midwifery - June 4, 2019 Category: Midwifery Authors: Valentin C, Smidt A, Barton R, Wilson NJ, How B Tags: Midwifery Source Type: research

Generalized Lichen Nitidus: A Rare Cutaneous Manifestation of Down's Syndrome.
PMID: 31145073 [PubMed - in process] (Source: Skinmed)
Source: Skinmed - June 1, 2019 Category: Dermatology Authors: Guliani A, Kumar S, Aggarwal D, Saikia UN, Vinay K Tags: Skinmed Source Type: research

GSE127880 Lysosomal dysfunction in Down syndrome is APP-dependent and mediated by APP- βCTF (C99)
Contributors : Ying Jiang ; Yutaka Sato ; Eunju Im ; Martin Berg ; Matteo Bordi ; Sandipkumar Darji ; Asok Kumar ; Panaiyur S Mohan ; Urmi Bandyopadhyay ; Antonio Diaz ; Ana M Cuervo ; Ralph A NixonSeries Type : Expression profiling by high throughput sequencing ; Third-party reanalysisOrganism : Homo sapiensLysosomal failure underlies pathogenesis of numerous congenital neurodegenerative disorders and is an early and progressive feature of Alzheimer ’s disease (AD) pathogenesis. Here, we report that lysosomal dysfunction in Down Syndrome (Trisomy 21) requires the extra gene copy of amyloid precursor protein (APP) an...
Source: GEO: Gene Expression Omnibus - May 30, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Third-party reanalysis Homo sapiens Source Type: research

Structural magnetic resonance imaging demonstrates abnormal cortical thickness in Down syndrome: Newborns to young adults
Publication date: Available online 28 May 2019Source: NeuroImage: ClinicalAuthor(s): Jacob Levman, Allissa MacDonald, Nicole Baumer, Patrick MacDonald, Natalie Stewart, Ashley Lim, Liam Cogger, Tadashi Shiohama, Emi TakahashiAbstractDown syndrome (DS) is a genetic disorder caused by an extra copy of all or part of chromosome 21 and is characterized by intellectual disability. We performed a retrospective analysis of 47 magnetic resonance imaging (MRI) examinations of participants with DS (aged 5 to 22 years) and compared them with a large cohort of 854 brain MRIs obtained from neurotypical participants (aged 5 to 32 ye...
Source: NeuroImage: Clinical - May 29, 2019 Category: Radiology Source Type: research

Occipitocervical or C1–C2 fusion using allograft bone in pediatric patients with Down syndrome 8 years of age or younger
In this study, we used freeze-dried allograft as a bone graft substitute, and we were able to detect bony trabeculae at the graft–recipient interface on lateral cervical radiographs and on reconstructed sagittal computed tomographic images in all patients. These results suggest that use of allograft is effective for treatment of upper cervical spine abnormalities in pediatric patients with Down syndrome. (Source: Journal of Pediatric Orthopaedics B)
Source: Journal of Pediatric Orthopaedics B - May 29, 2019 Category: Orthopaedics Tags: SPINE Source Type: research

Rethinking second-trimester Down syndrome screening in the cfDNA era.
This article is protected by copyright. All rights reserved. PMID: 31140633 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - May 29, 2019 Category: Radiology Authors: Cuckle H Tags: Ultrasound Obstet Gynecol Source Type: research

Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis.
Abstract We aimed to configure impaired/altered metabolomic profiles of pregnant women carrying Down syndrome (DS) fetuses. The study involved 21 and 32 pregnant women with DS and euploid fetuses, respectively, as determined by prenatal screening and diagnosis as part of an antenatal care program. Metabolomic analyses were carried out using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-qTOF-MS) methods. A total of 95 metabolites were identified. GC-MS analysis indicated that levels of 2-hydroxybutyric acid, benzoic acid, nonanoic acid, 3-hydr...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - May 27, 2019 Category: Perinatology & Neonatology Authors: Nemutlu E, Orgul G, Recber T, Aydin E, Ozkan E, Turgal M, Alikasifoglu M, Kir S, Beksac MS Tags: Z Geburtshilfe Neonatol Source Type: research

Hyperuricemia in Down syndrome children and adolescents
Conclusion: We found a high rate of hyperuricemia in children with DS that equally affects both genders, except in the age range of 13-15 years, in which it was more common among females.RESUMEN Introducci ón: Pacientes con síndrome de Down (SD) perecen tener mayor grado de hiperuricemia, aunque hay pocos estudios que traten esa cuestión. Niveles elevados de ácido úrico (AU) son un factor de riesgo independiente para enfermedad cardiovascular aterosclerótica. Objetivo: Estudiar la prevalencia d e hiperuricemia en niños y adolescentes con SD y su distribución de acuerd...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - May 23, 2019 Category: Pathology Source Type: research

Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome.
We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk wa...
Source: Journal of Autism and Developmental Disorders - May 23, 2019 Category: Psychiatry Authors: Channell MM, Hahn LJ, Rosser TC, Hamilton D, Frank-Crawford MA, Capone GT, Sherman SL, Down Syndrome Cognition Project Tags: J Autism Dev Disord Source Type: research

Vascular defects of DYRK1A knockouts are ameliorated by modulating calcium signaling in zebrafish [RESEARCH ARTICLE]
ABSTRACT DYRK1A is a major causative gene in Down syndrome (DS). Reduced incidence of solid tumors such as neuroblastoma in DS patients and increased vascular anomalies in DS fetuses suggest a potential role of DYRK1A in angiogenic processes, but in vivo evidence is still scarce. Here, we used zebrafish dyrk1aa mutant embryos to understand DYRK1A function in cerebral vasculature formation. Zebrafish dyrk1aa mutants exhibited cerebral hemorrhage and defects in angiogenesis of central arteries in the developing hindbrain. Such phenotypes were rescued by wild-type dyrk1aa mRNA, but not by a kinase-dead form, indicating the im...
Source: DMM Disease Models and Mechanisms - May 23, 2019 Category: Biomedical Science Authors: Cho, H.-J., Lee, J.-G., Kim, J.-H., Kim, S.-Y., Huh, Y. H., Kim, H.-J., Lee, K.-S., Yu, K., Lee, J.-S. Tags: Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research

Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome
Fragile X syndrome(FXS) is most common congenital hereditary disease of low intelligence after Down Syndrome. Its main pathogenic gene is Fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism and Fragile X-related primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fmr1 gene transcription leads to the absence of fragile X mental retardation protein (FMRP). How to relieve or cure disorders associated with FXS has also become a clinically disturbing problem. Previous studies have recently shown that Long noncoding RNAs (lncRNA) contribute to the ...
Source: Frontiers in Genetics - May 22, 2019 Category: Genetics & Stem Cells Source Type: research

Amyloid Load in the Down syndrome population measured with [11C]PiB PET
Conclusion: These results highlight the promise of AβL for quantification of Aβ burden in DS. Unique to this population (compared to sporadic AD) is the striatum displaying the highest carrying capacity. Analysis is ongoing to evaluate longitudinal change in AβL in this cohort to better characterize the natural history of Aβ in DS. (Source: Journal of Nuclear Medicine)
Source: Journal of Nuclear Medicine - May 21, 2019 Category: Nuclear Medicine Authors: Zammit, M., Laymon, C., Cody, K., Cohen, A., Tudorascu, D., Johnson, S., Betthauser, T., Barnhart, T., Murali, D., Stone, C., Minhas, D., Klunk, W., Handen, B., Christian, B. Tags: Amyloid and Tau PET Source Type: research

GSE127257 Single cell ATAC-seq identifies broad changes in neuronal abundance and gene regulation in Down Syndrome
Contributors : Roman Spektor ; Paul SolowaySeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiens ; Mus musculusTo characterize cellular and molecular changes associated with Down Syndrome, we performed single-cell combinatorial indexing assay for transposase accessible chromatin using sequencing (sci-ATAC-seq) on cortices of adult Ts65Dn mice and control littermates. Analyses of 13,766 cells revealed 26 classes of cells in the cortices of both genotypes. The most abundant cells, a class of excitatory neurons, was reduced by (~17 %) in Ts65Dn mice; three of the four most commo...
Source: GEO: Gene Expression Omnibus - May 20, 2019 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Mus musculus Source Type: research

Initial low ‐dose oral levothyroxine in a child with Down syndrome, myxedema, and cardiogenic shock
Myxedema is extremely rare in children, and guidelines are lacking. We treated a 12 ‐year‐old girl with myxedema and cardiogenic shock with initial low dose (0.3‐2.5 μg/kg body weight/day) of oral levothyroxine and intensive care. Oral administration may safely revert children's myxedema in a dosage resembling that for hypothyroidism. AbstractMyxedema is extremely rare in children, and guidelines are lacking. We treated a 12 ‐year‐old girl with myxedema and cardiogenic shock with initial low dose (0.3‐2.5 μg/kg body weight/day) of oral levothyroxine and intensive care. Oral administration may sa...
Source: Clinical Case Reports - May 20, 2019 Category: General Medicine Authors: Annika Janson, Cathrin H ällström, Magnus Iversen, Mikael Finder, Amira Elimam, Ricard Nergårdh Tags: CASE REPORT Source Type: research

Neuroimaging assessment in Down syndrome: a pictorial review
AbstractDown syndrome (DS), or trisomy 21, is the leading genetic cause of intellectual incapacity worldwide, with a reported incidence of about 1 in 1,000 to 1 in 1,100 live births. Besides the several commonly known physical features characteristic of this syndrome present at birth, DS may additionally affect every organ system. In addition, despite the large number of published papers concerning this syndrome, there is scarce literature focusing specifically in the typical neuroimaging features associated with this condition. The aim of this paper is to review and systematize the distinctive characteristics and abnormal...
Source: Insights into Imaging - May 20, 2019 Category: Radiology Source Type: research

Outcomes following physical therapy incorporating hippotherapy on neuromotor function and bladder control in children with Down syndrome: A case series
. (Source: Physical and Occupational Therapy in Pediatrics)
Source: Physical and Occupational Therapy in Pediatrics - May 20, 2019 Category: Pediatrics Authors: Gabriele Moriello Mary Ellen Terpstra Jeremy Earl Source Type: research

Outcomes following physical therapy incorporating hippotherapy on neuromotor function and bladder control in children with Down syndrome: A case series.
CONCLUSIONS: Physical therapy incorporating hippotherapy may be a potential treatment to assist in improving gross motor function in children with DS, but eight sessions may not be long enough to show major improvements in gait parameters or bladder control. Further research in the form of larger controlled trials is warranted to provide more support for the intervention in those with DS. PMID: 31106675 [PubMed - as supplied by publisher] (Source: Physical Therapy)
Source: Physical Therapy - May 20, 2019 Category: Physiotherapy Authors: Moriello G, Terpstra ME, Earl J Tags: Phys Occup Ther Pediatr Source Type: research

Outcomes following physical therapy incorporating hippotherapy on neuromotor function and bladder control in children with Down syndrome: A case series
. (Source: Physical and Occupational Therapy in Pediatrics)
Source: Physical and Occupational Therapy in Pediatrics - May 20, 2019 Category: Pediatrics Authors: Gabriele Moriello Mary Ellen Terpstra Jeremy Earl Source Type: research

Transient abnormal myelopoiesis with pericardial effusion in Down syndrome: Case report
Pericardial effusion associated with transient abnormal myelopoiesis in Down's syndrome neonates needs to be diagnosed in a timely manner, and the comorbidities must be treated to prevent mortality. To our knowledge, the occurrence of basophilic/eosinophilic pericardial effusion without an increase of these cells in the peripheral blood and with no evidence of associated hypothyroidism is rare. AbstractPericardial effusion associated with transient abnormal myelopoiesis in Down's syndrome neonates needs to be diagnosed in a timely manner, and the comorbidities must be treated to prevent mortality. To our knowledge, the occ...
Source: Clinical Case Reports - May 17, 2019 Category: General Medicine Authors: Bianca Francisco Falasco, Brenda Durante, Daniel Kanaan Faria, Caroline Silv ério Faria, Débora Cristina Batista Rosolen, Leila Antonangelo Tags: CASE REPORT Source Type: research

[Bilateral hip fracture in a patient with Down syndrome].
We present the case of a 56-year-old man with Down syndrome and Alzheimer-like dementia with simultaneous bilateral hip fracture. A bilateral partial hip cemented arthroplasty was performed on this patient. The aim was to avoid the partial burden that could be caused by ostheosynthesis, due to the patient's lack of cooperation arising from his mental deterioration and his problems realizing everyday activities. He was able to walk unaided with complete autonomy until his death fourth years later. In our experience, one stage surgery for bilateral hip prosthesis is safe and provides good results in patients with severe ment...
Source: Anales del Sistema Sanitario de Navarra - May 13, 2019 Category: General Medicine Authors: Díaz de Rada P, Machado V, Villas C, Alfonso M Tags: An Sist Sanit Navar Source Type: research

Does Tonsillectomy Increase Obesity Risk in Children with Down Syndrome?
To examine weight changes relative to surgical success in children with Down syndrome and obstructive sleep apnea (OSA). (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - May 10, 2019 Category: Pediatrics Authors: Amanda G. Ruiz, Dexiang Gao, David G. Ingram, Francis Hickey, Matthew A. Haemer, Norman R. Friedman Tags: Original Article Source Type: research