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Sample records for downs syndrome patients

  1. Orthodontic treatment considerations in Down syndrome patients

    Directory of Open Access Journals (Sweden)

    Sianiwati Goenharto

    2012-03-01

    Full Text Available Background: Down syndrome is an easily recognized congenital disease anomaly, a common autosomal chromosomal anomaly with high prevalence of malocclusion. Orthodontic treatment demand should be high but it seems difficult to be done because of specific condition of disability. Purpose: The purpose of this literature review was to discribe the orthodontic problems found in Down syndrome patients and several consideration that shoud be done to treat them. Reviews: Many studies report the high prevalence of malocclusion among people with Down syndrome. There is a greater frequency of clas III relationship, crossbite, crowding and also open bite. Several problems might appear in the treatment because of dental, medical, mental, and behavioural factor. Conclusion: It is concluded that orthodonic treatment can be performed in Down syndrome patient, although several difficulties may appear. Good consideration in mental, behavior, medical and also dental condition will influence whether the treatment will success or not. Special care and facilities will support the orthodontic treatment.Latar belakang: Sindroma Down adalah suatu kelainan congenital yang mudah dikenali, merupakan kelaian kromosom autosomal yang cukup banyak terjadi, dengan prevalensi maloklusi cukup tinggi. Seharusnya permintaan akan perawatan ortodonti juga tinggi meskipun tampaknya sulit dilakukan karena adanya kondisi ketidakmampuan/cacat yang spesifik. Tujuan: Tujuan studi pustaka ini adalah untuk menggambarkan problem perawatan ortodonti pada penderita sindroma Down dan pertimbangan apa yang sebaiknya diambil untuk mengatasi masalah tersebut. Tinjauan pustaka: Banyak penelitian melaporkan tentang prevalensi maloklusi yang tinggi pada penderita sindroma Down. Maloklusi yang sering dijumpai adalah relasi klas III, gigitan silang, berdesakan dan juga gigitan terbuka. Problem dapat terjadi saat perawatan ortodonti karena adanya faktor dental, medis, mental dan tingkah laku penderita

  2. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Mariëlle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  3. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  4. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, M.G.; Vis, J.C.; Loon, R.L. van; Berger, R.M.; Hoendermis, E.S.; Dijk, A.P.J. van; Bouma, B.J.; Mulder, B.J.

    2009-01-01

    BACKGROUND: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. METHODS: In this open-label

  5. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  6. Myxedema coma in a patient with Down's syndrome.

    Science.gov (United States)

    Bansal, Darpan; Nanda, Ashish; Gupta, Ekta; Croker, Mary; Williams, Misty L; Bacchus, Amy; Simmons, Debra; Erbland, Marcia

    2006-11-01

    hyroid dysfunction is common in Down's syndrome, most common being hypothyroidism. Longstanding, untreated hypothyroidism can lead to myxedema coma. Here we report a patient with Down's syndrome who presented with myxedema coma. The three essential elements for the diagnosis of myxedema coma include altered mental status, defective thermoregulation and a precipitating event or illness; all of these were present in our patient. Also, very high TSH, low T3 and T4, and the rapid response to the treatment with levothyroxine confirmed the diagnosis. Patients with Down's syndrome should have regular screening for thyroid dysfunction.

  7. Hematological abnormalities in adult patients with Down's syndrome.

    LENUS (Irish Health Repository)

    McLean, S

    2012-02-01

    BACKGROUND: There is a paucity of data regarding hematological abnormalities in adults with Down\\'s syndrome (DS). AIMS: We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance. METHODS: We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up. RESULTS: Median follow-up was 26 months (9-71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML). CONCLUSIONS: MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.

  8. Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation

    Directory of Open Access Journals (Sweden)

    Rajeev Subramanyam

    Full Text Available Abstract Background and objectives: Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. Methods: IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1 mcg/kg/h and high (3 mcg/kg/h dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway and at base of the tongue (retroglossal airway. Results and conclusions: Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16 ± 11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways.

  9. Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation.

    Science.gov (United States)

    Subramanyam, Rajeev; Fleck, Robert; McAuliffe, John; Radhakrishnan, Rupa; Jung, Dorothy; Patino, Mario; Mahmoud, Mohamed

    2016-01-01

    Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

  10. [Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation].

    Science.gov (United States)

    Subramanyam, Rajeev; Fleck, Robert; McAuliffe, John; Radhakrishnan, Rupa; Jung, Dorothy; Patino, Mario; Mahmoud, Mohamed

    2016-01-01

    Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  11. Bacterial tracheitis in Down's syndrome.

    OpenAIRE

    Cant, A J; Gibson, P J; West, R J

    1987-01-01

    Four children with Down's syndrome and bacterial tracheitis are described. In three the infection was due to Haemophilus influenza. In patients with Down's syndrome presenting with stridor tracheitis should be considered and appropriate treatment started.

  12. Down Syndrome = Sindrome de Down.

    Science.gov (United States)

    Pueschel, S. M.; Glasgow, R. E.

    Presented both in English and Spanish, the brochure is primarily concerned with biological and developmental characteristics of the person with Down's syndrome. An emphasis is on the valuable humanizing influence these individuals have on society. Brief sections in the document discuss the delayed developmental aspects of Down's syndrome; the…

  13. Gait patterns in Prader-Willi and Down syndrome patients

    Directory of Open Access Journals (Sweden)

    Albertini Giorgio

    2010-06-01

    Full Text Available Abstract Background Prader-Willi (PWS and Down Syndrome (DS are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies. Methods 19 PWS patients (17.7-40 yr and 21 DS patients (18-39 yr were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr. Results and Discussion The results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p Conclusions Our data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern.

  14. Assessment of immune function in Down syndrome patients | Abdel ...

    African Journals Online (AJOL)

    In Down syndrome (DS), trisomy 21 leads to overexpression of gene coding for specific enzymes. This overexpression translates directly into biochemical aberrations that affect multiple interacting metabolic pathways which culminates in cellular dysfunction and contributes to the unique pathogenesis of DS. The aim of this ...

  15. The Dental Needs and Treatment of Patients with Down Syndrome.

    Science.gov (United States)

    Mubayrik, Azizah Bin

    2016-07-01

    Down syndrome is a common disorder with many oral conditions and systemic manifestations. Dentists need to take a holistic approach including behavioral, oral, and systemic issues. This review of the literature focuses on oral anomalies, systemic interaction, management, and recommendations. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  17. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  18. Down Syndrome: A Cardiovascular Perspective

    Science.gov (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  19. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  20. Comparative study of dental anomalies assessed with panoramic radiographs of Down syndrome and non-Down syndrome patients.

    Science.gov (United States)

    Mayoral-Trias, M A; Llopis-Perez, J; Puigdollers Pérez, A

    2016-03-01

    The aim of this study was to compare the prevalence of dental anomalies from panoramic radiographs of age-matched individuals with and without Down Syndrome (DS). This is a retrospective cross-sectional study. A group of 41 patients (19 female and 22 male) with Down Syndrome (DS), mean age 10.6 ± 1.4 and a control group of 42 non- DS patients (26 female and 16 male), mean age 11.1 ± 1.3 were studied. This study examined the medical history and a panoramic radiograph of each patient. The dental anomalies studied were agenesis of permanent teeth (except third molars), size and shape maxillary lateral anomalies and maxillary canine eruption path anomalies. The groups were compared using Mann-Whitney and Wilcoxon non-parametric tests (panomalies of maxillary lateral incisors, as well as for canine eruption anomalies (pdental anomalies were present in the DS group than in the control group, which implied that DS patients need periodical dental and orthodontic supervision so as to prevent or control subsequent oral problems.

  1. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  2. Earlier Pulmonary Valve Replacement in Down Syndrome Patients Following Tetralogy of Fallot Repair.

    Science.gov (United States)

    Sullivan, Rachel T; Frommelt, Peter C; Hill, Garick D

    2017-08-01

    The association between Down syndrome and pulmonary hypertension could contribute to more severe pulmonary regurgitation after tetralogy of Fallot repair and possibly earlier pulmonary valve replacement. We compared cardiac magnetic resonance measures of pulmonary regurgitation and right ventricular dilation as well as timing of pulmonary valve replacement between those with and without Down syndrome after tetralogy of Fallot repair. Review of our surgical database from 2000 to 2015 identified patients with tetralogy of Fallot with pulmonary stenosis. Those with Down syndrome were compared to those without. The primary outcome of interest was time from repair to pulmonary valve replacement. Secondary outcomes included pulmonary regurgitation and indexed right ventricular volume on cardiac magnetic resonance imaging. The cohort of 284 patients included 35 (12%) with Down syndrome. Transannular patch repair was performed in 210 (74%). Down syndrome showed greater degree of pulmonary regurgitation (55 ± 14 vs. 37 ± 16%, p = 0.01) without a significantly greater rate of right ventricular dilation (p = 0.09). In multivariable analysis, Down syndrome (HR 2.3, 95% CI 1.2-4.5, p = 0.02) and transannular patch repair (HR 5.5, 95% CI 1.7-17.6, p = 0.004) were significant risk factors for valve replacement. Those with Down syndrome had significantly lower freedom from valve replacement (p = 0.03). Down syndrome is associated with an increased degree of pulmonary regurgitation and earlier pulmonary valve replacement after tetralogy of Fallot repair. These patients require earlier assessment by cardiac magnetic resonance imaging to determine timing of pulmonary valve replacement and evaluation for and treatment of preventable causes of pulmonary hypertension.

  3. Dementia of Alzheimer-type in adult patients with Down`s syndrome. Its frequency, neuroradiological findings, and biochemical study of risk factors

    Energy Technology Data Exchange (ETDEWEB)

    Sekijima, Yoshiki [Shinshu Univ., Matsumoto, Nagano (Japan). Faculty of Medicine

    1997-06-01

    We examined the frequency, neuroradiological features, and risk factors of Alzheimer-type dementia (DAT) in 123 Japanese adult patients with Down`s syndrome. Among these patients 16 were diagnosed as having DAT. The prevalence of DAT was 0% in the 18- to 39-year-old group, 16% in those aged 40 to 49 years old, and 38% in those over 50 years old. On CT examination, the earliest finding of DAT was atrophy of the temporal lobe. Patients at an advanced stage revealed extensive atrophy of the cerebral hemispheres, frequently associated with calcification of the basal ganglia. {sup 123}I-IMP-SPECT studies showed abnormally decreased isotope uptake in the posterior parietal regions in Down`s syndrome patients with DAT, and a similar finding was also seen in Down`s syndrome patients who showed severe mental retardation. The frequency of the apolipoprotein E (ApoE) E4 in Down`s syndrome patients with DAT was 18.8%, which was higher than that of non-demented Down`s syndrome patients (4.5%) and Japanese non-demented controls (6.7%). In particular, the frequency of the ApoE E4 in patients who developed DAT before 50 years of age was significantly high (28.6%). It is very likely that the ApoE E4 is a risk factor for DAT even in Down`s syndrome patients with a genetic predisposition to Alzheimer`s disease. (author)

  4. Boerhaave's syndrome in a patient with an upside down stomach: A case report.

    Science.gov (United States)

    Saito, Shin; Hosoya, Yoshinori; Kurashina, Kentaro; Matsumoto, Shiro; Kanamaru, Rihito; Ui, Takashi; Haruta, Hidenori; Kitayama, Joji; Lefor, Alan K; Sata, Naohiro

    2016-01-01

    Spontaneous esophageal perforation, or Boerhaave's syndrome, is a life-threating condition which usually requires emergent surgery. An upside down stomach is defined as a gastric volvulus in a huge supradiaphragmatic sac. In general, this condition can result in ischemia and perforation of the stomach. This is the first report of a patient with Boerhaave's syndrome and an upside down stomach. A 79-year-old woman presented with sudden epigastric pain following hematemesis. Evaluation of the patient showed both an esophageal perforation and an upside down stomach. Surgical drainage and irrigation of the mediastinum and pleural cavities were undertaken emergently. Due to the concurrent gastric volvulus, a gastrostomy was placed to fix and decompress the stomach. The patient had an uneventful hospital course and was discharged. Boerhaave's syndrome is a rare but severe complication caused by excessive vomiting, due to a sudden elevation in intraluminal esophageal pressure resulting in esophageal perforation. Acute gastric volvulus can result in ischemia and perforation of the stomach, but has not previously been reported with esophageal perforation. The most likely mechanism associating an upside down stomach with Boerhaave's syndrome is acute gastric outlet obstruction resulting in vomiting, and subsequent esophageal perforation. Perforation of the esophagus as well as perforation of the stomach must be considered in patients with an upside down stomach although both upside down stomach and Boerhaave's syndrome are rare clinical entities. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  5. Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type and Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio

    2012-01-01

    People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…

  6. Obsessive Compulsive Disorder Treatment in Patients with Down Syndrome: A Case Series

    Science.gov (United States)

    Sutor, Bruce; Hansen, Mark R.; Black, John L.

    2006-01-01

    In this case series we report four cases of patients with Down syndrome with symptoms consistent with obsessive compulsive disorder. Each patient experienced substantial reduction in compulsive behaviors with pharmacotherapy of an SSRI alone or with the addition of risperidone to SSRI therapy. None of the patients experienced significant side…

  7. Radioresistant DNA synthesis in fibroblasts of a patient with Down's syndrome

    International Nuclear Information System (INIS)

    Barenfel'd, L.S.; Bil'din, V.N.; Pleskach, N.M.; Prokof'eva, V.V.

    1985-01-01

    Ionizing radiation effect on DNA replication on fibroblasts of a healthy donor and a patient with Down's syndrome either by direct 3 H-thymidine inclusion into DNA, or by analysis of the sizes of daughter DNA moleculs at the state of stable distribution in acid saccharose, gradients was studied. Gamma-radiation doses (5-10 Gy) suppressing DNA synthesis in normal fibroblasts practically had no effect on DNA synthesisin fibroblasts of a patient with Down's syndrome. Radioresistant DNA synthesis in Down's syndrome is conditioned by a far less supression of replicon initiation as compared with the one in normal cells. So, it is stated that in Down's disease there is no delay in DNA synthesis by ionizing radiation that enables the normal cells to repair DNA damages before replication renewal

  8. Direct Acting Antivirals in Patients with Chronic Hepatitis C and Down Syndrome

    Directory of Open Access Journals (Sweden)

    Eric R. Yoo

    2016-01-01

    Full Text Available Patients with Down syndrome who received blood transfusions, likely in conjunction with cardiothoracic surgery for congenital heart disease and prior to the implementation of blood-donor screening for hepatitis C virus infection, face a substantial risk of acquiring the infection. In the past, interferon-based therapy for chronic hepatitis C infection in patients with Down syndrome was noted to have lower efficacy and potentially higher risk of adverse effects. Recently, the treatment for chronic hepatitis C has been revolutionized with the introduction of interferon-free direct acting antivirals with favorable safety, tolerability, and efficacy profile. Based on our experiences, the newly approved sofosbuvir-based direct acting antiviral therapy is well tolerated and highly efficacious in this subpopulation of hepatitis C virus infected patients with Down syndrome.

  9. Oral Rehabilitation with Implant-Retained Overdenture in a Patient with Down Syndrome.

    Science.gov (United States)

    Altintas, Nuray Yilmaz; Kilic, Serdar; Altintas, Subutay Han

    2017-01-24

    Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period. The prosthetic rehabilitation was performed with implant-retained maxillary and mandibular overdentures with the Locator attachment system. After a 2-year follow-up period, the patient was doing well, and all implants were clinically stable with no signs of bone loss or inflammation. The present study emphasizes that implant-retained overdentures with Locator attachment system could be a therapeutic option even for patients with Down syndrome. This therapy prevents crestal bone loss around the implants, improves functional and esthetic outcomes, and provides optimum oral hygiene for patients with mild mental impairment. Careful patient selection and education of patients and caregivers are essential considerations for a successful and safe treatment with dental implants in Down syndrome patients. © 2017 by the American College of Prosthodontists.

  10. The absence of radiation-induced adaptive response in lymphocytes of patients with Down's syndrome

    International Nuclear Information System (INIS)

    Khandogina, E.K.; Mutovin, G.R.; Zvereva, S.V.; Zverev, D.O.; Neudakhin, E.V.; Arkhipov, B.A.; Akif'ev, A.P.; AN SSSR, Moscow

    1991-01-01

    The adaptive syndrome and response (AR) in lymphocytes from 6 patients with Down syndrome (DS) were investigated. No AR was found to occur in all cases in DS cells pre-exposed to 3 rad of X-rays in S phase of cell cycle and then irradiated with 150 rad of gamma rays in G2 whereas the chromosome aberrations yield in cells from control donors was decreased twice under such conditions of the experiment

  11. Roentgenologic abnormalities in Down's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Takehiko; Russell, W J; Komatsuda, Michio; Neriishi, Shotaro

    1968-07-25

    Roentgenograms of 28 patients with Down's syndrome were reviewed with emphasis on all previously reported abnormalities and any possible additional ones. Most of the abnormalities occurred with the same frequency as previously reported, but some less frequently reported findings were also seen. One abnormal vertebral measurement found in this series may be an additional stigma of Down's syndrome. All of the 27 cases studied cytogenetically had chromosomal abnormalities consistent with this disease. This study emphasizes the need for roentgenologic norms for the Japanese, and the desirability of combining chromosome studies with roentgenological abnormalities and clinical observations in diagnosing Down's syndrome. 19 references, 2 figures, 5 tables.

  12. Conference Proceedings: “Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks”

    Science.gov (United States)

    Oster-Granite, Mary Lou; Parisi, Melissa A.; Abbeduto, Leonard; Berlin, Dorit S.; Bodine, Cathy; Bynum, Dana; Capone, George; Collier, Elaine; Hall, Dan; Kaeser, Lisa; Kaufmann, Petra; Krischer, Jeffrey; Livingston, Michelle; McCabe, Linda L.; Pace, Jill; Pfenninger, Karl; Rasmussen, Sonja A.; Reeves, Roger H.; Rubinstein, Yaffa; Sherman, Stephanie; Terry, Sharon F.; Whitten, Michelle Sie; Williams, Stephen; McCabe, Edward R.B.; Maddox, Yvonne T.

    2011-01-01

    A December 2010 meeting, “Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks,” was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole. PMID:21835664

  13. Down syndrome: national conference on patient registries, research databases, and biobanks.

    Science.gov (United States)

    Oster-Granite, Mary Lou; Parisi, Melissa A; Abbeduto, Leonard; Berlin, Dorit S; Bodine, Cathy; Bynum, Dana; Capone, George; Collier, Elaine; Hall, Dan; Kaeser, Lisa; Kaufmann, Petra; Krischer, Jeffrey; Livingston, Michelle; McCabe, Linda L; Pace, Jill; Pfenninger, Karl; Rasmussen, Sonja A; Reeves, Roger H; Rubinstein, Yaffa; Sherman, Stephanie; Terry, Sharon F; Whitten, Michelle Sie; Williams, Stephen; McCabe, Edward R B; Maddox, Yvonne T

    2011-01-01

    A December 2010 meeting, "Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks," was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole. Copyright © 2011. Published by Elsevier Inc. All rights reserved.

  14. Adenosine triphosphate and diphosphoglycerate levels in red blood cells from patients with Down's syndrome.

    Science.gov (United States)

    Knull, H R; Bronstein, W W; Porter, P J

    1978-09-15

    The levels of ATP and ATP plus DPG were significantly elevated in erythrocytes from Down's syndrome patients when compared to erythrocytes from age matched controls. The hemoglobin content and hematocrit values were significantly reduced. The resultant tendency towards anemia probably explains the elevation in metabolite levels.

  15. What Causes Down Syndrome?

    Science.gov (United States)

    ... Division Offices, Branches & Programs Research Areas Training and Recruitment Division of Intramural Research (DIR) Office of the ... launched DS-Connect® as a safe and secure online registry for people with Down syndrome, their families, ...

  16. Aging and Down Syndrome

    Science.gov (United States)

    ... to be aw are of the connec tion bet ween Down syndrome and Alzheimer ’s disea se so ... albeing cared for. Make aneffor tto be proactive, thinking ahead to anticipate needs and concerns. x x ...

  17. Pain in Down's Syndrome

    Directory of Open Access Journals (Sweden)

    Federica Mafrica

    2006-01-01

    Full Text Available Pain is a homeostatic mechanism that intervenes to protect the organism from harmful stimuli that could damage its integrity. It is made up of two components: the sensory-discriminative component, which identifies the provenance and characteristics of the type of pain; and the affective-motivational component, on which emotional reflexes, following the painful sensation, depend.There is a system for pain control at an encephalic and spinal level, principally made up of the periaqueductal grey matter, the periventricular area, the nucleus raphe magnus, and the pain-inhibition complex situated in the posterior horns of the spinal cord. Through the activation of these pain-control systems, the nervous system suppresses the afference of pain signals. Endogenous opioids represent another analgesic system.In the course of various studies on pain transmission in Down patients, the reduced tolerance of pain and the incapacity to give a qualitative and quantitative description emerged in a powerful way. All of these aspects cause difficulty in evaluating pain. This is linked to several learning difficulties. However, it cannot be excluded that in these anomalies of pain perception, both the anatomical and the neurotransmitter alteration, typical of this syndrome, may hold a certain importance.This fact may have important clinical repercussions that could affect the choice of therapeutic and rehabilitative schemes for treatment of pathologies in which pain is the dominant symptom, such as postoperative pain. It could influence research on analgesics that are more suitable for these patients, the evaluation of the depth of analgesia during surgical operation, and ultimately, absence of obvious pain manifestations. In conclusion, alterations of the central nervous system, neurotransmitters, pain transmission, and all related problems should be considered in the management of pain in patients with Down's syndrome, especially by algologists and

  18. The Results of Corneal Hydrops Treatment in Patients with Down Syndrome

    Directory of Open Access Journals (Sweden)

    V. K. Surkova

    2018-01-01

    Full Text Available The article describes the clinical cases of acute keratoconus in three patients with Down syndrome who underwent penetrating  keratoplasty. Acute keratoconus were diagnosed in patients by examination of medical history, biomicroscopy, corneal topography,optical coherence tomography. Acute keratoconus occurs suddenly due to the rupture of Descemet’s membrane in the zone of itsstretching, when chamber moisture seeps into the thickness of the stroma, causing its swelling and perforation. If untreated, theprocess continues for 3–5 months. Most researchers recommend keratoplasty during the cold period of the disease. However, withthe threat of perforation require urgent surgical intervention. There are two effective methods of surgical treatment: epikeratophakiaand penetrating keratoplasty. Patients underwent penetrating keratoplasty. The preference for this method was given in connectionwith the following factors: young age patients (under 40 years, relatively healthy transparent peripheral zone of the cornea, whichwas observed in our patients, genetically determined diseases — Down syndrome, the threat of corneal perforation in the centre, apenchant for rubbing his eye, low vision other eye and the desire to obtain speedy optical effect along with the treatment. All patientsafter penetrating keratoplasty had improvement of visual acuity with observation periods up to 1 year. Due to the relatively highincidence of keratoconus in patients with Down syndrome should focus the attention of ophthalmologists. Thus, difficulties in thediagnosis of ophthalmic pathology in patients with concomitant Down syndrome can cause errors in verification of diagnosis and hencewrong treatment selection. In case of hydrops of the cornea penetrating keratoplasty is the choice treatment and contributes to the preservation of the eye and visual functions.

  19. Redo Heller Myotomy for Achalasia in a Patient with Down Syndrome: a Case Report.

    Science.gov (United States)

    Sosa-Stanley, Jessica; Vandendool, KellyAnn; Kiev, Jonathan

    2015-01-01

    Up to 77% of Down syndrome (DS) patients have associated structural or functional gastrointestinal abnormalities. Functional disturbances, such as processes affecting the enteric nervous system, can often affect the outcome of corrective surgical procedures. Recently, an association between DS and achalasia has been reported. In this report we present a 28-year-old male patient with a history of Down syndrome and achalasia, who presented with recurrent dysphagia, gastroesophageal reflux, and recurrent aspirations. The patient had previously undergone a laparoscopic Heller myotomy with Dor fundoplication. Unfortunately, despite this surgery, he continued to require multiple esophageal dilations, and intraesophageal administration of Botox therapy. Additionally, there were numerous subsequent hospital admissions for recurrent aspiration pneumonia. Evaluation revealed an incomplete myotomy and a revision long Heller myotomy was successfully performed intraabdominally and he is now symptom and aspiration free.

  20. Successful treatment on an out-patient basis of a patient with Down's syndrome and disseminated testicular seminoma

    NARCIS (Netherlands)

    Sleijfer, S.; van der Graaf, W. T. A.; Schraffordt Koops, H.

    Due to a high incidence of undescended testicles, patients with Down's syndrome have an increased risk of testicular cancer. The treatment of these patients with the successful cisplatin-containing regimens, which are however toxic and require hospitalization, can cause several problems. We present

  1. [Characteristics in treatment of the hip in patients with Down syndrome].

    Science.gov (United States)

    Peterlein, C-D; Schiel, M; Timmesfeld, N; Schofer, M D; Eberhardt, O; Wirth, T; Fernandez, F F

    2013-12-01

    The treatment of hip instability in patients with Down syndrome is challenging. We have performed different pelvic osteotomies and corrections at the proximal femur for this indication. This retrospective study was conducted to evaluate the clinical and radiological outcome of each intervention. All in all, 166 patients with Down syndrome were treated at our orthopaedic department in the observation period. Problems related to the hip joint were diagnosed in 63 of those patients. Only patients who underwent surgery were included in this study. The charts and X-rays of these 31 patients were evaluated with respect to the following parameters: incidence of the hip problem, concomitant diseases, temporal progress, kind of operation method and date, duration of stay in the hospital, after-care, follow-on surgery related to complications, AC angle, CE angle, ACM angle, CCD angle, index of migration according to Reimers, classification of Bauer and Kerschbauer and general morphology of the femoral head. The group was compared with an age-matched group of 21 patients with hip dysplasia. Those patients underwent the same sort of operation in the same year. In the Morbus Down group, we performed surgery for preservation of the hip in 49 cases. This included 13 osteotomies according to Chiari, 11 triple osteotomies according to Tönnis, 10 corrections by femoral varus derotation osteotomy, 8 pelvic osteotomies according to Pemberton, 5 pelvic osteotomies according to Salter and 2 open reductions of the hip. With respect to the moment of surgery, we detected three peaks of age. There was no difference in course of disease and quantity of complications between the groups. Satisfactory results concerning clinical and radiological outcome were achieved predominantly by complete redirectional acetabular osteotomies. Half of the patients who were solely treated by femoral varus derotation osteotomy needed follow-on surgery in the form of pelvic osteotomy. Comparison of

  2. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    Energy Technology Data Exchange (ETDEWEB)

    Guimaraes, Carolina V.A. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Donnelly, Lane F. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Shott, Sally R. [Medical Center, Division of Otolaryngology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Amin, Raouf S.; Kalra, Maninder [Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States)

    2008-10-15

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm{sup 2}) than in the control patients (2,767 mm{sup 2}; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  3. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    International Nuclear Information System (INIS)

    Guimaraes, Carolina V.A.; Donnelly, Lane F.; Shott, Sally R.; Amin, Raouf S.; Kalra, Maninder

    2008-01-01

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm 2 ) than in the control patients (2,767 mm 2 ; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  4. Maternal irradiation and Down Syndrome

    International Nuclear Information System (INIS)

    Gibson, D.L.; Uh, S.H.; Miller, J.R.

    1978-04-01

    The role of preconception irradiation in the etiology of Down Syndrome was examined using the techniques of record linkage. Although 909 cases of Down Syndrome, born in B.C. between 1952-70, were ascertained through a system of linked vital and health registrations, interest was restricted to the 348 case/control pairs born in the greater Vancouver area. The maternal identifying information routinely recorded on birth and ill-health registrations was used to link 155 Down Syndrome mothers and 116 control mothers to patient files at the Vancouver General Hospital. Only 28 of the case and 25 of the control mothers were subjected to diagnostic irradiation at the Vancouver Ganeral Hospital. The difference was not significant at the 5% level

  5. Caries in Portuguese children with Down syndrome

    OpenAIRE

    Areias, Cristina Maria; Sampaio-Maia, Benedita; Guimaraes, Hercilia; Melo, Paulo; Andrade, David

    2011-01-01

    OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of ...

  6. HPRT Enzyme Activity of Blood Cells From Patients With Downs Syndrome

    International Nuclear Information System (INIS)

    Sbubber, E.K.; Abdul-Rahman, M.H.; Sultan, A.F.; Hamamy, H.A.

    1998-01-01

    Hypoxanthine phosphoribosyl transferase (HPRT) enzyme activity was determined in erythrocytes from 16 children (aged below one year to 11 year) with down s syndrome using 8-C 14 Hypoxanthine and radioeleelrophorsis techniques. Significant (P<0.01) reduction in HPRT enzyme activity was seen in D S children compared to that of 18 (age and sex matched) healthy children. Pure 21 - trisomic erythrocytes expressed lower enzyme activity than mosaic cell. Mothers of D S children showed significantly (P<0.01) lower enzyme activity than mothers of normal children . Reduced activity of HPRT enzyme was also observed in PHA-stimulated lymphocytes of DS children and their mothers. These results indicated that deficiency of HPRT in D S patients may contribute to the abnormal purine metabolism associated with the symptomatology of this syndrome

  7. Bone health in Down syndrome.

    Science.gov (United States)

    García-Hoyos, Marta; Riancho, José Antonio; Valero, Carmen

    2017-07-21

    Patients with Down syndrome have a number of risk factors that theoretically could predispose them to osteoporosis, such as early aging, development disorders, reduced physical activity, limited sun exposure, frequent comorbidities and use of drug therapies which could affect bone metabolism. In addition, the bone mass of these people may be affected by their anthropometric and body composition peculiarities. In general terms, studies in adults with Down syndrome reported that these people have lower areal bone mineral density (g/cm 2 ) than the general population. However, most of them have not taken the smaller bone size of people with Down syndrome into account. In fact, when body mineral density is adjusted by bone size and we obtain volumetric body mineral density (g/cm 3 ), the difference between both populations disappears. On the other hand, although people with Down syndrome have risk factor of hypovitaminosis D, the results of studies regarding 25(OH)D in this population are not clear. Likewise, the studies about biochemical bone markers or the prevalence of fractures are not conclusive. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  8. Caries in Portuguese children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Maria Areias

    2011-01-01

    Full Text Available OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. CONCLUSIONS: Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  9. Caries in Portuguese children with Down syndrome.

    Science.gov (United States)

    Areias, Cristina Maria; Sampaio-Maia, Benedita; Guimaraes, Hercilia; Melo, Paulo; Andrade, David

    2011-01-01

    Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. A sibling-matched, population-based, cross-sectional survey was performed. Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth) essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  10. Neurofibromatosis, Down's syndrome, and acquired abnormalities

    Directory of Open Access Journals (Sweden)

    Syed Yousuf Ali

    2016-01-01

    Full Text Available We report a patient with Down's syndrome and neurofibromatosis who presented with a keloid, sebaceous cyst and acanthosis nigricans, along with dental and ophthalmological defects. The coexistence of neurofibromatosis type 1 and Down's syndrome which are two unrelated genetic conditions is itself a rarity.

  11. Treating acid reflux disease in patients with Down syndrome: pharmacological and physiological approaches

    Directory of Open Access Journals (Sweden)

    Francesco Macchini

    2011-01-01

    Full Text Available Francesco Macchini, Ernesto Leva, Maurizio Torricelli, Alberto ValadèPediatric Surgery Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, ItalyAbstract: Down syndrome (DS is often accompanied by gastrointestinal disease, occurring mainly in early infancy and frequently requiring therapy. Among motility disorders, the most frequent is gastroesophageal reflux disease (GERD, which may often be misdiagnosed because of its atypical manifestations. Early diagnosis of esophageal functional disorders is essential to prevent respiratory problems, growth retardation in children, weight loss in adults, and to establish the correct type of surgery if needed. Furthermore, the involvement of the enteric nervous system in the pathophysiology of GERD in DS is not yet completely understood but seems supported by much evidence. In fact DS is often associated with motor disorders and this evidence must be considered in the choice of therapy: in particular all options available to improve motility seem to be effective in these patients. The effectiveness of therapy is strictly related to the rate of mental impairment, so that modulating therapy is essential, especially in view of the severity of the neurological status.Keywords: gastro-esophageal reflux disease, chromosome 21, Down syndrome

  12. Stigma in Iranian Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sahel Hemmati

    2010-04-01

    Full Text Available Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome families perceived that stigma had a negative effect from social. Causes of stigma are different. Stigma due social interaction, Media and health professionals are significant than others. Discussion: The diagnostic label of Down syndrome may render the person and his family vulnerable to stigmatization. The most causes of stigma were determined therefore, in the destigmatization programs, they must be attended. Stigma must be detected, too.

  13. Down syndrome preleukemia and leukemia.

    Science.gov (United States)

    Maloney, Kelly W; Taub, Jeffrey W; Ravindranath, Yaddanapudi; Roberts, Irene; Vyas, Paresh

    2015-02-01

    Children with Down syndrome (DS) and acute leukemias acute have unique biological, cytogenetic, and intrinsic factors that affect their treatment and outcome. Myeloid leukemia of Down syndrome (ML-DS) is associated with high event-free survival (EFS) rates and frequently preceded by a preleukemia condition, the transient abnormal hematopoiesis (TAM) present at birth. For acute lymphoblastic leukemia (ALL), their EFS and overall survival are poorer than non-DS ALL, it is important to enroll them on therapeutic trials, including relapse trials; investigate new agents that could potentially improve their leukemia-free survival; and strive to maximize the supportive care these patients need. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Down Syndrome and Alzheimer's Disease

    Science.gov (United States)

    ... A A A Share Plus on Google Plus Alzheimer's & Dementia alz.org | IHaveAlz Overview What Is Dementia ... chapter Join our online community Down Syndrome and Alzheimer's Disease As they age, those affected by Down ...

  15. A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy

    Directory of Open Access Journals (Sweden)

    Starleen E. Frousiakis

    2014-11-01

    Full Text Available We present the case of a 19-year-old female with a history of Down syndrome (DS who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON. The patient's family history was significant for a known G11778A mutation in a maternal relative, consistent with LHON. The patient was also positive for the G11778A mutation; however, the genotype demonstrated low penetrance in the pedigree, with only 1 out of 10 adult male offspring showing signs or symptoms of the disease. Mitochondrial mutations implicated in LHON have been shown to impair complex I of the electron transport chain and thereby reducing the effective generation of adenosine triphosphate and increasing the production of toxic reactive oxygen species. Although the partial or complete triplicate of chromosome 21 constitutes the etiology of DS, some of the pleiotropic phenotypes of the syndrome have been attributed to oxidative stress and mitochondrial dysfunction. Given the low penetrance of the mutation and the patient's sex, this case illustrates the possibility that the mitochondrial mutation demonstrated increased penetrance due to pre-existing mitochondrial dysfunction related to DS.

  16. Chromosomal break points in irradiated and ethyl methane sulphonate treated leucocytes of patients with Down syndrome

    International Nuclear Information System (INIS)

    Reeja, T.C.; Chandra, N.; Marimuthu, K.M.

    1993-01-01

    Frequencies of chromosomal damage in the peripheral leucocytes of patients with Down syndrome, on exposure to gamma rays (2Gy) or ethyl methane sulphonate (EMS, 1 x 10 -4 M), were assessed. Analysis of break points in the chromosomes of irradiated cells revealed a non-random occurrence. Six of the break points observed in EMS-treated cells were found to overlap with those recorded in irradiated cells. Thirteen break points observed were found to correlate with the location of cancer-specific break points and four of these coincided with the bands where oncogenes have been located. Two break points were localised to the same bands as that of known heritable fragile sites. (author). 17 refs., 2 figs., 3 tabs

  17. Sleep Apnea and Hypoventilation in Patients with Down Syndrome: Analysis of 144 Polysomnogram Studies

    Directory of Open Access Journals (Sweden)

    Zheng Fan

    2017-06-01

    Full Text Available Patients with Down syndrome (DS are at risk for both obstructive sleep apnea (OSA and central sleep apnea (CSA; however, it is unclear how these components evolve as patients age and whether patients are also at risk for hypoventilation. A retrospective review of 144 diagnostic polysomnograms (PSG in a tertiary care facility over 10 years was conducted. Descriptive data and exploratory correlation analyses were performed. Sleep disordered breathing was common (seen in 78% of patients with an average apnea-hypopnea index (AHI = 10. The relative amount of obstructive apnea was positively correlated with age and body mass index (BMI. The relative amount of central sleep apnea was associated with younger age in the very youngest group (0–3 years. Hypoventilation was common occurring in more than 22% of patients and there was a positive correlation between the maximum CO2 and BMI. Sleep disordered breathing, including hypoventilation, was common in patients with DS. The obstructive component increased significantly with age and BMI, while the central component occurred most in the very young age group. Due to the high risk of hypoventilation, which has not been previously highlighted, it may be helpful to consider therapies to target both apnea and hypoventilation in this population.

  18. Prolonged Tp-e Interval in Down Syndrome Patients with Congenitally Normal Hearts.

    Science.gov (United States)

    Kucuk, Mehmet; Karadeniz, Cem; Ozdemir, Rahmi; Meşe, Timur

    2018-03-25

    Heterogeneity of ventricular repolarization has been assessed by using the QT dispersion in Down syndrome (DS) patients with congenitally normal hearts. However, novel repolarization indexes, the Tp-e interval and Tp-e/QT ratio, have not previously been evaluated in these patients. The aim of this study was to evaluate the Tp-e interval and Tp-e/QT ratio in DS patients without congenital heart defects. Twelve-lead surface electrocardiograms of 160 DS patients and 110 age- and sex-matched healthy controls were used to evaluate and compare the Tp-e interval, Tp-e dispersion, and Tp-e/QT ratio. Heart rate, Tp-e interval, Tp-e dispersion, Tp-e/QT and Tp-e/QTc ratios were significantly higher in DS group than in the controls. Myocardial repolarization indexes in DS patients with congenitally normal hearts were found to be prolonged compared to those in normal controls. Further evaluation is warranted to reveal a relationship between prolonged repolarization indexes and arrhythmic events in these patients. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  19. Noninvasive treatment choice for an aged down syndrome patient presenting a residual periapical cyst.

    Science.gov (United States)

    Sperandio, Felipe Fornias; Carli, Marina Lara de; Guimaräes, Eduardo Pereira; Pereira, Alessandro Antônio Costa; Hanemann, Joäo Adolfo Costa

    2014-03-01

    This is the first report to illustrate the marsupialization as an effective treatment for a Down Syndrome (DS) patient presenting a residual periapical cyst. These cysts occur within the alveolar ridge, usually at the local site of a previously extracted tooth that did not received proper curettage; usually the surgical excision of a cyst and also the vigorous curettage of a socket is very simple, if not for the fact that mentally disabled patients require rapid and non-stressful procedures. The 54-year-old DS patient represented herein received a minimally invasive marsupialization under local anesthesia. Due to the large extent of the lesion, the acrylic resin drain was maintained for 30 days. Through the following period, a daily irrigation of the cystic cavity with saline solution was carried out to prevent a secondary infection within the cystic cavity. A follow-up of 16 months showed no signs of recurrence. Marsupialization of residual periapical cyst is completely effective and safe, even for a DS patient that is considered to be at an advanced age. Marsupialization poses as a minimally invasive choice for mentally disabled patients, even when presenting advanced ages; treatment success was stated by the easy clinical conduct, uneventful postoperative situation and the lack of recurrence along 16 months of follow-up.

  20. Brain CT studies in 26 cases of aged patients with Down syndrome

    International Nuclear Information System (INIS)

    Arai, Yukio; Yoshihara, Sachiko; Iinuma, Kazuso.

    1995-01-01

    Computed tomographic images of brains from 26 individuals (10 males and 16 females) with Down syndrome were analysed for roentgenographic measurement. Their ages ranged from 14 to 47 years, the average being 28 years. The results showed that their Sylvian fissure ratio was larger in the aged group. A high incidence of calcification in basal ganglia, choroid plexus and pineal body was noted (85%). An increased Sylvian fissure ratio and a high incidence of intracranial calcification may be practically used as representatives of premature aging. Furthermore, a high incidence of mega cisterna magna implicates that it is worthy of study whether individuals with Down syndrome have a predisposition to underdevelopment of cerebellum. (author)

  1. Basal ganglia calcification on CT in adult patients with Down's syndrome

    International Nuclear Information System (INIS)

    Ono, Yoshiro; Yoshida, Hironobu; Yoshimasu, Fumio; Higashi, Yuji.

    1987-01-01

    Fourteen adult cases with Down's syndrome were examined on cranial CT scan, and 5 of them (35.7 %) showed basal ganglia calcification (BGC). The incidence of BGC in the present cases was very high in comparison with the one in general population (0.3 ∼ 1.5 %). Abnormalities of calcium metabolism or dysfunctions of the basal ganglia were absent in each case with BGC. Calcifications were exclusively located in globus pallidus. It is considered that BGC found in the present cases may be due to the premature aging process in Down's syndrome. (author)

  2. Survival of dental implants in patients with Down syndrome: A case series.

    Science.gov (United States)

    Limeres Posse, Jacobo; López Jiménez, Julian; Ruiz Villandiego, José C; Cutando Soriano, Antonio; Fernández Feijoo, Javier; Linazasoro Elorza, Maialen; Diniz Freitas, Márcio; Diz Dios, Pedro

    2016-12-01

    The need for tooth replacement in individuals with Down syndrome (DS) is explained by the high prevalence of dental agenesis and by the premature loss of teeth through severe periodontal disease. Dental implants may be the dental procedure of choice in some of these patients. The purpose of this clinical study was to analyze dental implant survival in a series of patients with DS. This was a multicenter, retrospective, observational study. Information on patients was gathered using a standardized questionnaire designed specifically for this study, including personal details, oral health status, information on the surgical and prosthetic phases, and follow-up visits. The questionnaire was sent to centers registered with the research network of the Spanish Society of Special Needs Dentistry (SEOENE). Patients with DS aged 18 years or older were included in the study if they had at least 1 dental implant and the corresponding prosthesis and had been followed up for at least a year. The study population was formed of 25 adult patients (13 men and 12 women) aged between 19 and 60 years. The interventions were performed by 5 different dental surgeons, usually under general anesthesia or deep sedation (n=17 patients). A total of 73 implants were inserted, 30 in the maxilla and 43 in the mandible, most commonly in the anterior region (n=51). The mean time to loading the implants was 4.1 ±1.3 months after surgery (range, 1 to 7 months). All patients completed prosthetic rehabilitation; the most frequent design used was the single fixed prosthesis (n=13 patients). A total of 17 (23.2%) implants failed in 8 (32%) patients; the majority (n=14 implants) failed in the postsurgical period before implant loading. The distribution by patients was 1 implant failure in 6 patients, 3 failures in 1 patient, and 8 failures in 1 patient. Dental implant survival is lower in individuals with DS than in the general population. The reasons for early implant failure in these patients have

  3. Long-term outcome for Down syndrome patients with hematopoietic disorders.

    Science.gov (United States)

    Li, Meng-Ju; Lee, Ni-Chung; Yang, Yung-Li; Yen, Hsiu-Ju; Chang, Hsiu-Hao; Chien, Yin-Hsiu; Lu, Meng-Yao; Jou, Shiann-Tarng; Lin, Kai-Hsin; Hwu, Wuh-Liang; Lin, Dong-Tsamn

    2016-02-01

    Although Down syndrome (DS) patients have a higher risk of developing transient myeloproliferative disorder (TMD) and acute leukemia, very little data is available on long-term outcome in Taiwanese patients. The current study was designed to determine the clinical characteristics and treatment outcome of DS patients with TMD or acute leukemia (AL). In 25 consecutive DS patients with TMD or AL enrolled from 1990 to 2012, clinical manifestations and treatment protocols were investigated and GATA1 (GATA binding protein 1) mutations were identified. Among 16 DS-acute myeloid leukemia (DS-AML) patients, clinical outcomes were compared between survivors and nonsurvivors. Most of our DS patients had TMD (32%), acute megakaryoblastic leukemia (24%), or acute erythromegakaryoblastic leukemia (16%). The median follow-up time was 22.5 months (1-230 months). The age was younger and the hemoglobin (Hb) level and platelet count were higher in TMD patients than in leukemia patients. Among DS-AML patients, the Hb level was higher in survivors than nonsurvivors (8.8 ± 2.7 g/dL vs. 5.8 ± 2.4 g/dL; p = 0.044) and the age was older in relapsed patients than in nonrelapsed patients (43.8 ± 18 months old vs. 21.6 ± 8.6 months old; p = 0.025). The 3-year overall survival (OS) rate was 44%, higher in patients receiving appropriate chemotherapy than in those receiving inadequate treatment (63.6% vs. 0%, p = 0.001), and higher in those diagnosed with TMD or AL after 2008 than before 2008 (33.3% vs. 75%; p = 0.119). Outcome in DS-AML patients is optimal if appropriate treatment is provided. With modification of the treatment strategy in 2008, OS increased in Taiwan. Copyright © 2015. Published by Elsevier B.V.

  4. Abnormal course of the vertebral artery at the craniovertebral junction in patients with Down syndrome visualized by three-dimensional CT angiography

    International Nuclear Information System (INIS)

    Yamazaki, Masashi; Okawa, Akihiko; Hashimoto, Mitsuhiro; Aiba, Atsuomi; Someya, Yukio; Koda, Masao

    2008-01-01

    We determined the incidence of vertebral artery (VA) anomalies at the craniovertebral junction (CVJ) in patients with Down syndrome, and characterized the VA anomalies. The course of the VA in 46 consecutive patients who were due to undergo posterior arthrodesis surgery at the CVJ were evaluated by three-dimensional CT angiography (3DCTA). Included were five patients with Down syndrome who suffered from myelopathy due to atlantoaxial subluxation. All five patients with Down syndrome also had a simultaneous congenital skeletal anomaly, either os odontoideum or ossiculum terminale. Of the five patients with Down syndrome, three had VA anomalies at the CVJ, two had fenestration and one had a persistent first intersegmental artery. Of the other 41 patients without Down syndrome, five had VA anomalies at the CVJ. The incidence of VA anomalies at the CVJ was much higher in patients with Down syndrome than in those without Down syndrome. In planning surgery in patients with Down syndrome with symptomatic atlantoaxial subluxation and a congenital skeletal anomaly at the CVJ, we should consider the possible presence of VA anomalies. Preoperative 3DCTA allows us to precisely identify an anomalous VA and evaluate the possible risk of intraoperative VA injury in advance. (orig.)

  5. Abnormal course of the vertebral artery at the craniovertebral junction in patients with Down syndrome visualized by three-dimensional CT angiography

    Energy Technology Data Exchange (ETDEWEB)

    Yamazaki, Masashi; Okawa, Akihiko; Hashimoto, Mitsuhiro; Aiba, Atsuomi; Someya, Yukio; Koda, Masao [Chiba University Graduate School of Medicine, Spine Section, Department of Orthopaedic Surgery, Chiba (Japan)

    2008-06-15

    We determined the incidence of vertebral artery (VA) anomalies at the craniovertebral junction (CVJ) in patients with Down syndrome, and characterized the VA anomalies. The course of the VA in 46 consecutive patients who were due to undergo posterior arthrodesis surgery at the CVJ were evaluated by three-dimensional CT angiography (3DCTA). Included were five patients with Down syndrome who suffered from myelopathy due to atlantoaxial subluxation. All five patients with Down syndrome also had a simultaneous congenital skeletal anomaly, either os odontoideum or ossiculum terminale. Of the five patients with Down syndrome, three had VA anomalies at the CVJ, two had fenestration and one had a persistent first intersegmental artery. Of the other 41 patients without Down syndrome, five had VA anomalies at the CVJ. The incidence of VA anomalies at the CVJ was much higher in patients with Down syndrome than in those without Down syndrome. In planning surgery in patients with Down syndrome with symptomatic atlantoaxial subluxation and a congenital skeletal anomaly at the CVJ, we should consider the possible presence of VA anomalies. Preoperative 3DCTA allows us to precisely identify an anomalous VA and evaluate the possible risk of intraoperative VA injury in advance. (orig.)

  6. Assessment of coeliac disease prevalence in patients with Down syndrome in Poland - a multi-centre study.

    Science.gov (United States)

    Szaflarska-Popławska, Anna; Soroczyńska-Wrzyszcz, Anetta; Barg, Ewa; Józefczuk, Jan; Korczowski, Bartosz; Grzybowska-Chlebowczyk, Urszula; Więcek, Sabina; Cukrowska, Bożena

    2016-01-01

    The results of studies assessing whether patients with Down syndrome have increased risk of coeliac disease are contradictory. The prevalence of coeliac disease in patients with Down syndrome is estimated at a wide range between 1% to as much as 18.6%. To assess coeliac disease prevalence in patients with Down syndrome in Poland. The study enrolled 301 patients with Down syndrome from six centres in Poland (Wroclaw, Sandomierz, Rzeszow, Grudziadz, Katowice, and Bydgoszcz). We measured the concentration of anti-tissue transglutaminase IgA antibodies and anti-deamidated gliadin peptide IgG antibodies in all patients. Patients with abnormal positive (> 10 U/ml) or inconclusive (7-10 U/ml) result of the serological test were offered endoscopic biopsy of the small intestine in the main centre. In 31 (10.3%) patients increased concentrations of the investigated antibodies were found, including 19 (6.3%) patients with increased tTg-IgA concentration, 27 (8.97%) patients with increased concentration of DGP-IgG, and 15 (4.98%) patients with increased concentration of both types of antibodies. Endoscopic biopsy of the small intestine was planned for all 31 patients with abnormal results of at least one antibody test and for 2 patients with inconclusive results. One of them suffered from previously diagnosed and histologically confirmed coeliac disease. Biopsy was not conducted in 9 patients due to contraindications, lack of their consent, or introduction of a gluten-free diet by the parents before the examination. In a group of 23 patients who underwent endoscopic biopsy of the small intestine, in 15 patients the histopathological picture of the small intestinal mucosa was typical for coeliac disease, 2 patients were diagnosed with lesions of grade 1 according to the classification by Marsh-Oberhuber, 1 patient was diagnosed with focal shortening of villi and hypertrophy of the crypts with no intraepithelial lymphocytosis (remains under gastrological observation), 2 patients

  7. Genetics Home Reference: Down syndrome

    Science.gov (United States)

    ... called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual ... Kennedy Shriver National Institute of Child Health and Human Development GeneEd National Human Genome Research Institute National ...

  8. Breastfeeding children with Down syndrome

    OpenAIRE

    Može, Barbara

    2013-01-01

    Even if nutrition is a common need of all children, there are some specifics related to this area for children with Down syndrome. Breastfeeding is an ideal natural way of feeding the baby, and it fulfills all of the baby’s requirements needed for growth and development (Vistoropski, 2013). It includes several advantages, both for the baby and for the mother (Skale, 2010). Children with Down syndrome are born with many health specialties, which can present a barrier to breastfeeding. Nonet...

  9. Mastoid abnormalities in Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

    1989-06-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development.

  10. Mastoid abnormalities in Down syndrome

    International Nuclear Information System (INIS)

    Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

    1989-01-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development. (orig.)

  11. Endocrine manifestations of Down syndrome.

    Science.gov (United States)

    Whooten, Rachel; Schmitt, Jessica; Schwartz, Alison

    2018-02-01

    To summarize the recent developments in endocrine disorders associated with Down syndrome. Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth. Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

  12. Efficacy of antimicrobial photodynamic therapy as an adjuvant in periodontal treatment in Down syndrome patients.

    Science.gov (United States)

    Martins, Fabiana; Simões, Alyne; Oliveira, Marcio; Luiz, Ana Claudia; Gallottini, Marina; Pannuti, Claudio

    2016-12-01

    Down syndrome (DS) has characteristics that include mental retardation, a characteristic phenotype, congenital heart defects, immune disorders, and increased risk of periodontal disease (PD). Antimicrobial photodynamic therapy (aPDT) is the combined use of photosensitizers associated with low-level laser (LLL) and oxygen, leading to singlet oxygen formation, which contributes to the antibacterial activity of the phagocytes, killing bacteria. The objective of this study was to evaluate the efficacy of aPDT as an adjuvant to conventional periodontal treatment of PD in DS patients. A double-blinded, controlled, randomized, split-mouth study was conducted. A total of 13 DS subjects who were 18 years or older and who presented at least one tooth in each quadrant of the mouth with probing pocket depth (PPD) equal to or greater than 5 mm were included. The patients were evaluated at three different times: at the baseline, PPD were obtained. After 1 week, conventional scaling and root planing (SRP) was performed, and two randomly selected quadrants also received aPDT. One month after SRP, all the patients were reevaluated. Periodontal conditions were improved among all the participants. The PDT-with-SRP group presented a nonsignificant reduction in PPD (mean = 1.27 mm, median = 1.17 mm) relative to that of the SRP group (mean = 1.00 mm, median = 0.95 mm). Changes over time were compared using the Wilcoxon test. A significant reduction in median PPD was observed in both groups (p = 0.001). Both types of periodontal treatment, with and without PDT, were similarly effective and were associated with good clinical response.

  13. Epífora congênita nos pacientes com síndrome de Down Congenital epiphora in patients with Down syndrome

    Directory of Open Access Journals (Sweden)

    Christiane Carvalho Salvio

    2007-06-01

    Full Text Available OBJETIVO: Identificar as causas de epífora congênita em pacientes com síndrome de Down. MÉTODOS: Foram analisados os prontuários de 695 pacientes com epífora congênita, atendidos no Ambulatório de Vias Lacrimais da Clínica Oftalmológica da Santa Casa de Misericórdia de São Paulo, de outubro de 1989 a julho de 2005. Todos foram previamente submetidos a exame oftalmológico completo e apresentavam como queixa principal epífora e/ou secreção ocular constante, uni ou bilateral, desde o nascimento. Os pacientes foram divididos em: grupo A, 30 pacientes com síndrome de Down, e grupo B, 665 pacientes controle. A avaliação das vias lacrimais foi realizada com a prova de irrigação sob anestesia geral. RESULTADOS: Os grupos A e B são semelhantes estatisticamente quanto à idade (p=0,07, sexo (p=0,63 e raça (p=0,68. As queixas bilaterais foram mais freqüentes no grupo A (p=0,0008. A obstrução anatômica das vias lacrimais foi encontrada em 32,73% do grupo A e em 85,51% do grupo B (pPURPOSE: To describe the causes of congenital epiphora in patients with Down syndrome. METHODS: Retrospective study of 695 patients with congenital epiphora, of the Lacrimal Sector of the Department of Ophthalmology, São Paulo "Santa Casa", Brazil, between October 1998 and July 2005. This study analyzed: the main symptom of continuous epiphora or mucous discharge, which affected one or both eyes, since birth. Subjects were separated in to two groups: group A, with 30 patients with Down syndrome and group B, with 665 control patients. The lacrimal evaluation was performed by the throw irrigation test after general anesthesia. RESULTS: Both groups were statistically similar regarding age (p=0.07, sex (p=0.63 and race (p=0.68. Bilateral symptoms were more frequent in group A (p=0.0008. Anatomic obstruction of the lacrimal canal was present in 32.73% of group A and in 85.51% of group B (p<0.0001. CONCLUSIONS: The most frequent cause of congenital epiphora

  14. There is a Need to Request Cervical Spine Routine Radiographs for Patients with Down's Syndrome Before Carrying out Otorhinolaryngologic Surgery?

    Directory of Open Access Journals (Sweden)

    Szpak, Andrea Marçal

    2011-01-01

    Full Text Available Introduction: The Down's Syndrome (DS is a genetic syndrome characterized by several changes and the Atlanto-axial Instability is critical for the otorhinolaryngologist. Objective: Check the prevalence of atlanto-axial instability in patients with Down's Syndrome who undergo service follow-up in the Clinical Hospital of the UFPR [Federal University of Paraná] and review the need to carry out routine cervical radiography in the patients with prescription to otorhinolaryngologic surgery. Method: Prospective study of patients with the syndrome who undergo CH/UFPR's follow up, through questionnaire and cervical X-ray. Results: No case of IAA was found in the population studied. Discussion: we consider there's a high frequency of AAI in patients with DS, and for all patients who will take part in sports activities that involve motion of the region, or who are submitted to surgeries, an investigation with clinical and radiological exam is recommended. However, as the incidence has many variable findings we question the real validity of this research for all patients, even the asymptomatic ones. Conclusion: In spite of a DS's peculiar change, there are no evidences of the need to research the AAI as a routine in asymptomatic patients and the symptomatology should guide the investigation. But more studies are required to evaluate the importance of the radiological exams in such cases.

  15. Electromyographic evaluation of the lower limbs of patients with Down syndrome in hippotherapy

    Directory of Open Access Journals (Sweden)

    Mariane Fernandes Ribeiro

    2017-05-01

    Full Text Available Hippotherapy is a therapeutic method that uses the horse’s movement to achieve functional results in practitioners with Down syndrome (DS, who present motor and neurophysiological changes that affect the musculoskeletal system. Evaluating the motor behavior related to the control and the improvement of muscle activation in practitioners with Down syndrome subjected to hippotherapy. 10 practitioners were divided into two groups: Down Group (DG – practitioners with DS, and Healthy Group (HG – practitioners with no physical impairment. The muscles gluteus medius, tensor fasciae latae, rectus femoris, vastus medialis, vastus lateralis, biceps femoris, tibialis anterior and gastrocnemius were evaluated by electromyography using gross RMS values, which correspond to muscle activation; the evaluations were performed on the 1st and 10th hippotherapy sessions (frequency: once a week, and after 2 months interval without treatment, they were performed on the 1st and 10th hippotherapy sessions (frequency: twice a week. It was noted that activation of the studied muscles increased with the passing of sessions, regardless the weekly frequency of attendance; however, the period without treatment resulted in reduction of this effect. Practitioners with DS presented satisfactory changes in muscle activation pattern, in learning and in motor behavior during hippotherapy sessions.

  16. Association of Down's syndrome and testicular cancer.

    Science.gov (United States)

    Dieckmann, K P; Rübe, C; Henke, R P

    1997-05-01

    We present additional clinical evidence for the suspected association of Down's syndrome and testicular germ cell tumors. Four cases of Down's syndrome and testicular cancer are reported. The literature was reviewed for previous cases and analysis regarding common features. The 4 patients were 29 to 35 years old and had clinical stage I seminoma of the testis. Two patients received prophylactic abdominal radiotherapy, 1 is being followed and 1 received adjuvant carboplatin treatment. There was no relapse at followup of 1 to 8 years. One patient also had contralateral cryptorchidism. A total of 16 cases with the association of Down's syndrome and testicular germ cell cancer was documented previously. Evidence for the suspected association of Down's syndrome and testicular cancer is now accumulating. Etiologically it is suspected that, along with genetically determined malformations in many other organs in trisomy 21, the gonads also undergo maldevelopment, thus creating the conditions for step 1 of germ cell tumor oncogenesis in utero. Physicians caring for patients with Down's syndrome should be aware of the possible association with testicular neoplasms.

  17. Pericentrin expression in Down's syndrome.

    Science.gov (United States)

    Salemi, Michele; Barone, Concetta; Romano, Carmelo; Salluzzo, Roberto; Caraci, Filippo; Cantarella, Rita Anna; Salluzzo, Maria Grazia; Drago, Filippo; Romano, Corrado; Bosco, Paolo

    2013-11-01

    Down's syndrome (DS) is the most frequent genetic cause of intellectual disability and is a chromosomal abnormality of chromosome 21 trisomy. The pericentrin gene (PCNT) has sequenced in 21q22.3 inside of the minimal critical region for Down's syndrome. Alterations of PCNT gene are associated with dwarfism, cardiomyopathy and other pathologies. In this study, we have evaluated the possible differential expression of PCNT mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects compared with the normal population. In the present case-control study, PCNT gene expression was increased by 72.72% in 16 out 22 DS samples compared with normal subjects. Our data suggest that changes in the expression levels of PCNT in DS subjects may be involved into the molecular mechanism of Down's syndrome.

  18. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  19. Down syndrome: coercion and eugenics.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2011-08-01

    Experts agree that coercion by insurance companies or governmental authorities to limit reproductive choice constitutes a eugenic practice. We discuss discrimination against families of children with Down syndrome who chose not to have prenatal testing or chose to continue a pregnancy after a prenatal diagnosis. We argue that this discrimination represents economic and social coercion to limit reproductive choice, and we present examples of governmental rhetoric and policies condoning eugenics and commercial policies meeting criteria established by experts for eugenics. Our purpose is to sensitize the clinical genetics community to these issues as we attempt to provide the most neutral nondirective prenatal genetic counseling we can, and as we provide postnatal care and counseling to children with Down syndrome and their families. We are concerned that if eugenic policies and practices targeting individuals with Down syndrome and their families are tolerated by clinical geneticists and the broader citizenry, then we increase the probability of eugenics directed toward other individuals and communities.

  20. Down's syndrome and thyroid disorder.

    Science.gov (United States)

    Dinani, S; Carpenter, S

    1990-04-01

    The thyroid status of 106 adults with Down's syndrome was assessed. Six were previously diagnosed as hypothyroid and were already receiving thyroxine. A further 37 patients showed abnormal thyroid function. Biochemical evidence of hypothyroidism (T4 less than 50 nmol/l and T.S.H. greater than 4 mu/less than) was found in one person. Six patients were found to have an unequivocally elevated T.S.H. but normal T4 (T4 greater than 50 nmol/l and T.S.H. greater than 20 mu/l) and 29 were found to have a modest elevation of T.S.H. but normal T4 concentration (T4 greater than 50 nmol/l and T.S.H. between 4 and 20 mu/l). There was one patient with mild thyrotoxicosis (T4 = 180 nmol/l and T.S.H. less than 0.1 mu/l). Clinical findings were of little use in making a diagnosis of hypothyroidism in this group of patients. A raised level of thyroid microsomal auto-antibodies was found in about a third of the patients, this occurred more commonly in females and slightly more often in those with a raised thyroid stimulating hormone. The importance of this is discussed. Recommendations for regular biochemical screening are made.

  1. Learning about Down Syndrome

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  2. Dementia of Alzheimer-type in adult patients with Down's syndrome. Its frequency, neuroradiological findings, and biochemical study of risk factors

    International Nuclear Information System (INIS)

    Sekijima, Yoshiki

    1997-01-01

    We examined the frequency, neuroradiological features, and risk factors of Alzheimer-type dementia (DAT) in 123 Japanese adult patients with Down's syndrome. Among these patients 16 were diagnosed as having DAT. The prevalence of DAT was 0% in the 18- to 39-year-old group, 16% in those aged 40 to 49 years old, and 38% in those over 50 years old. On CT examination, the earliest finding of DAT was atrophy of the temporal lobe. Patients at an advanced stage revealed extensive atrophy of the cerebral hemispheres, frequently associated with calcification of the basal ganglia. 123 I-IMP-SPECT studies showed abnormally decreased isotope uptake in the posterior parietal regions in Down's syndrome patients with DAT, and a similar finding was also seen in Down's syndrome patients who showed severe mental retardation. The frequency of the apolipoprotein E (ApoE) E4 in Down's syndrome patients with DAT was 18.8%, which was higher than that of non-demented Down's syndrome patients (4.5%) and Japanese non-demented controls (6.7%). In particular, the frequency of the ApoE E4 in patients who developed DAT before 50 years of age was significantly high (28.6%). It is very likely that the ApoE E4 is a risk factor for DAT even in Down's syndrome patients with a genetic predisposition to Alzheimer's disease. (author)

  3. Down syndrome and ionizing radiation.

    Science.gov (United States)

    Verger, P

    1997-12-01

    This review examines the epidemiologic and experimental studies into the possible role ionizing radiation might play in Down Syndrome (trisomy 21). It is prompted by a report of a temporal cluster of cases of this chromosomal disorder observed in West Berlin exactly 9 mo after the radioactive cloud from Chernobyl passed. In approximately 90% of cases, Down Syndrome is due to the nondisjunction of chromosome 21, most often in the oocyte, which may be exposed to ionizing radiation during two separate periods: before the completion of the first meiosis or around the time of ovulation. Most epidemiologic studies into trisomies and exposure to ionizing radiation examine only the first period; the Chernobyl cluster is related to the second. Analysis of these epidemiologic results indicates that the possibility that ionizing radiation might be a risk factor in Down Syndrome cannot be excluded. The experimental results, although sometimes contradictory, demonstrate that irradiation may induce nondisjunction in oogenesis and spermatogenesis; they cannot, however, be easily extrapolated to humans. The weaknesses of epidemiologic studies into the risk factors for Down Syndrome at birth (especially the failure to take into account the trisomy cases leading to spontaneous abortion) are discussed. We envisage the utility and feasibility of new studies, in particular among women exposed to prolonged or repeated artificially-produced ionizing radiation.

  4. What Are Common Symptoms of Down Syndrome?

    Science.gov (United States)

    ... Research Information Find a Study Resources and Publications Pelvic Floor Disorders Condition Information NICHD Research Information Find a ... for children with Down syndrome: A randomized trial. Physical Therapy , 91, 1463–1477. CDC. (2012). World Down syndrome ...

  5. Genetic epidemiology of Down syndrome in Iran

    OpenAIRE

    Manoochehr Shariati

    2005-01-01

    Down syndrome is the most common autosomal abnormality and occurs in approximately 1 per 700 live births. Down syndrome accounts for about one third of all moderate and sever mental handicaps in school-aged children. To reveal genetic epidemiology of Down syndrome, 545 karyotypes of referred cases to the author were evaluated. The frequencies of three cytogenetic variants of Down syndrome were trisomy 21 (77.5%), mosaicism (18%) and chromosomal translocation (4.5%). Male to female ratio was 1...

  6. Elastose perfurante serpiginosa em portadora da síndrome de Down Elastosis perforans serpiginosa in a patient with Down's syndrome

    Directory of Open Access Journals (Sweden)

    Ana Carolina Figueiredo Pereira

    2010-10-01

    Full Text Available A elastose perfurante serpiginosa é dermatose perfurante primária incomum, frequentemente associada a determinadas doenças genéticas e caracterizada por eliminação transepidérmica de fibras elásticas. Relata-se um caso raro dessa dermatose em paciente feminina de 19 anos, portadora da síndrome de Down, que apresentava pápulas eritematoceratóticas em arranjo arciforme, localizadas no antebraço e joelho direitos, assintomáticas, com cinco anos de evolução. Após confirmação histopatológica, foi iniciado tratamento com crioterapia, ocorrendo remissão parcial das lesões.Elastosis perforans serpiginosa is a rare, primary perforating dermatosis, frequently associated with certain genetic diseases and characterized by the transepidermal extrusion of elastic fibers. The present case report describes this dermatosis in a 19-year old female patient with Down's syndrome, who presented with asymptomatic erythematous, keratotic papules in an arciform pattern, located on her right forearm and knee, which had been present for five years. Following histopathological confirmation, treatment with cryotherapy was initiated, resulting in partial remission of the lesions.

  7. Cephalometrics in children with Down's syndrome

    International Nuclear Information System (INIS)

    Quintanilla, Juan Suarez; Biedma, Benjamin Martin; Rodriguez, Maximino Quintans; Mora, Maria Teresa Jorge; Cunqueiro, Maria Mercedes Suarez; Pazos, Mayte Abeleira

    2002-01-01

    Heading AbstractAims. To describe the craniofacial morphology of a group of patients with Down's syndrome using a cephalometric analysis of the lateral skull radiograph.Materials and methods. The studied sample consisted of 39 patients with Down's syndrome (24 boys, 15 girls) ranging from 7 to 18 years of age. The computerized cephalometric study of the lateral skull radiograph of each patient was carried out using the method described by Ricketts.Results.Anterior cross-bite was observed in 38.4% of patients and diminished interincisal angle in 77%. Skeletal parameters matched the clinical norm, indicating mesofacial biotype, i.e., normal maxillomandibular growth. The lower incisors protruded in 84.6% of the individuals studied and were proinclined in 77%; upper incisors were protruded in 77% of the sample. The lower lip protruded in 84.6%. Analysis of craniofacial parameters showed average values within the clinical norm. Analysis of the inner cranium demonstrated normal inclination of the cranial base, while the length of the anterior skull base was diminished in 53.8%.Conclusions. From the skeletal perspective, patients with Down's syndrome who are in a period of growth demonstrate a reduction of the anterior skull base. From the dentoalveolar perspective, they show protrusion and proinclination of lower incisors, which is related to a tendency to anterior cross-bite and, to a lesser extent, to diminished overbite. Likewise, the lower lip protrusion observed in this study is related to the position of the lower incisor. (orig.)

  8. Disability: Down Syndrome and Sexuality

    Directory of Open Access Journals (Sweden)

    Diana ORTIZ QUIROGA

    2017-03-01

    Full Text Available Thirty?four?year?old Daniel is the first European with Down syndrome to have graduated from university. He starts a social services job in Seville, where he meets free?spirited co?worker Laura. They become fast friends, drawing the attention of both their coworkers and families. Their unique relationship becomes problematic when Daniel falls in love with her. But these rebellious souls refuse to bend to the rules and they findfriendship and love as they have never known.

  9. Precision medicine approaches may be the future for CRLF2 rearranged Down Syndrome Acute Lymphoblastic Leukaemia patients.

    Science.gov (United States)

    Page, Elyse C; Heatley, Susan L; Yeung, David T; Thomas, Paul Q; White, Deborah L

    2018-06-04

    Breakthrough studies over the past decade have uncovered unique gene fusions implicated in acute lymphoblastic leukaemia (ALL). The critical gene, cytokine receptor-like factor 2 (CRLF2), is rearranged in 5-16% of B-ALL, comprising 50% of Philadelphia-like ALL and cooperates with genomic lesions in the Jak, Mapk and Ras signalling pathways. Children with Down Syndrome (DS) have a predisposition to developing CRLF2 rearranged-ALL which is observed in 60% of DS-ALL patients. These patients experience a poor survival outcome. Mutations of genes involved in epigenetic regulation are more prevalent in DS-ALL patients than non-DS ALL patients, highlighting the potential for alternative treatment strategies. DS-ALL patients also suffer greater treatment-related toxicity from current ALL treatment regimens compared to non-DS-ALL patients. An increased gene dosage of critical genes on chromosome 21 which have roles in purine synthesis and folate transport may contribute. As the genomic landscape of DS-ALL patients is different to non-DS-ALL patients, targeted therapies for individual lesions may improve outcomes. Therapeutically targeting each rearrangement with targeted or combination therapy that will perturb the transforming signalling pathways will likely improve the poor survival rates of this subset of patients. Copyright © 2018 Elsevier B.V. All rights reserved.

  10. The relationship between enlargement of the temporal horns of the lateral ventricles and dementia in aging patients with Down syndrome

    International Nuclear Information System (INIS)

    LeMay, M.; Alvarez, N.

    1990-01-01

    Head CT studies of patients with Alzheimer's disease (AD) show global atrophic changes. Tissue loss is especially prominent in the temporal lobes, with widening of the temporal horns of the lateral ventricles and, usually, widening of the temporal sulci. Some recent studies have found a familial form of AD to be mapped to chromosome 21. Down syndrome (DS) results from the inheritance of three chromosomes 21, and it has been shown that after the age of 35 the brains of patients with DS commonly show neuropathological changes similar to those in patients with AD. CT studies of 25 patients with DS (ages 29-64 years) were examined for tissue loss in the temporal regions, and this was compared to the findings commonly seen in patients with AD. The widths of CSF spaces varied considerably in patients with DS, but after the age of 50 most of them showed significant widening of the temporal horns. In some patients the horns were large enough to suggest obstructive hydrocephalus. Because of a new trend toward deinstitutionalization of patients with DS, radiologists will be seeing more studies on these patients and should familiarize themselves with the unique ways in which they manifest the aging process. (orig.)

  11. Depression and Anorexia Nervosa of Persons with Down Syndrome.

    Science.gov (United States)

    Szymanski, Ludwik S.; Biederman, Joseph

    1984-01-01

    Manifestations of depression in three adults wth Down syndrome, one of whom also exhibited anorexia nervosa, are described. Overall findings indicate that major depression in Down syndrome may be more frequent than previously assumed and that it can be diagnosed with standard diagnostic criteria, modified according to the patient's developmental…

  12. Periodontal disease in individuals with Down Syndrome: genetic focus

    Directory of Open Access Journals (Sweden)

    Lícia Bezerra Cavalcante

    2009-12-01

    Full Text Available Fundamental concepts of etiology, inheritance and clinical characteristics of Down syndrome are used in this review as a basis for submission of studies that focus on periodontal disease in individuals with Down syndrome, since almost 100% of them develop the disease in adult life. It is believed that in association with environmental and cultural factors related to hygiene and disabilities of coordination, the immunological characteristics that are found altered in individuals with Down syndrome, such as deficient neutrophil chemotaxis and reduced number of mature T lymphocytes, may contribute to the greater prevalence and severity of periodontal involvement in patients with Down syndrome. Moreover, the pattern of periodontal destruction observed in individuals with Down syndrome is consistent with aggressive periodontitis, with a predominance of periodontopathogens such as Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis and Tannerella forsythensis during childhood and adolescence of Down’s syndrome patients. It is possible to note a relationship between the development of molecular techniques and the evolution of knowledge about Down syndrome, for example: identification of the trisomy syndrome by observing only part of chromosome 21 (distal long arm; identification of genes in this trisomic region and the pattern of superexpression (or not of these genes. Moreover, in this review future perspectives are presented with regard to better understanding Down syndrome in the genetic context, which will reflect in more individualized and effective clinical treatments that will provide these patients with a better quality of life.

  13. Bilateral condylar resorption in down syndrome.

    Science.gov (United States)

    Grippaudo, Cristina; Grippaudo, Francesca Romana; Marianetti, Tito Matteo; Cacucci, Laura; Deli, Roberto; Pelo, Sandro

    2014-11-01

    Asymptomatic idiopathic condylar resorption is a rare disease of difficult diagnosis and treatment. We review the literature about this rare condition and report a case of a patient, affected by Down syndrome, who underwent a complete untreated bilateral condylar resorption in adolescence and then developed pain on chewing only 20 years later. Despite a precise orthodontic and surgical therapeutic plan, treatment had to be discontinued because of patient lack of compliance. This case is the first of its kind to be reported and emphasizes the need for special attention in patients with disability.

  14. Correlative study of the brain CT and clinical features of patients with Down's syndrome in three clinical stages of Alzheimer type dementia

    International Nuclear Information System (INIS)

    Maruyama, Keiko; Ikeda, Shu-ichi; Yanagisawa, Nobuo.

    1995-01-01

    Patients with Down's syndrome often develop Alzheimer type neuropathological changes as well as dementia of the Alzheimer type after the age of 40. We studied brain CT findings in relation to three clinical stages of Alzheimer type dementia in 11 patients with Down's syndrome aged from 17 to 55 years. In addition, 123 I-IMP-SPECT was studied in 4 of these patients. Dementia of the Alzheimer type was present in 9 patients; 5 patients were in the early stage, 2 were in the progressive stage, and the other 2 were in the end stage. The earliest CT finding was enlargement of the suprasellar cistern, which indicated atrophy of the medial temporal lobe including the hippocampus and amygdala. This finding was not present in non-demented individuals with Down's syndrome. Moreover, CT scans showed that brain atrophy progressed to the temporal, frontal lobe, and then generalized cerebral cortices, which correlated clinically with the severity of dementia. Studies of 123 I-IMP-SPECT in two patients with mild dementia revealed abnormally decreased isotope uptake in the temporal and posterior parietal regions. We suggest to measure the size of the suprasellar cistern in CT and SPECT scans for early detection and diagnosis of mild dementia of the Alzheimer type in patients with Down's syndrome. (author)

  15. Working memory and Down syndrome.

    Science.gov (United States)

    Baddeley, A; Jarrold, C

    2007-12-01

    A brief account is given of the evolution of the concept of working memory from a unitary store into a multicomponent system. Four components are distinguished, the phonological loop which is responsible for maintaining speech-based information, the visuospatial sketchpad performing a similar function for visual information, the central executive which acts as an attentional control system, and finally a new component, the episodic buffer. The buffer comprises a temporary multidimensional store which is assumed to form an interface between the various subsystems of working memory, long-term memory, and perception. The operation of the model is then illustrated through an account of a research programme concerned with the analysis of working memory in Down syndrome.

  16. Memory and Neuropsychology in Down Syndrome

    Science.gov (United States)

    Jarrold, Christopher; Nadel, Lynn; Vicari, Stefano

    2009-01-01

    This paper outlines the strengths and weaknesses in both short-term and long-term memory in Down syndrome, and the implications of these patterns for both other aspects of cognitive development and underlying neural pathology. There is clear evidence that Down syndrome is associated with particularly poor verbal short-term memory performance, and…

  17. Family perspectives about Down syndrome.

    Science.gov (United States)

    Skotko, Brian G; Levine, Susan P; Macklin, Eric A; Goldstein, Richard D

    2016-04-01

    National medical organizations recommend that during prenatal counseling sessions, healthcare providers discuss how having a child with Down syndrome (DS) might impact the family unit. Few studies, to date, have surveyed families about their life experiences. For this investigation, we examined 41 family attitudes, which were obtained from mailed questionnaires completed by 1,961 parents/guardians, 761 brothers/sisters, and 283 people with DS who were members of six DS non-profit organizations, chosen for their size, ethnic/racial diversities, and geographic distribution throughout the United States. About 83% of families reported to all being proud of the family member with DS, and 87% reported to all feeling love for the member with DS. Younger siblings (ages 9-11) were more likely to feel embarrassed by their sibling with DS if their parents/guardians also did. If one or more parents/guardians felt that their children without DS did have a good relationship with their child with DS, siblings were more likely to report that they loved and liked their brother/sister with DS. Overall, our data demonstrate that positive themes tend to dominate within modern-day families who have members with DS, although challenges were not insignificant for some. © 2015 Wiley Periodicals, Inc.

  18. Achondroplasia and Down syndrome in the same patient. Report of a case

    International Nuclear Information System (INIS)

    Sanchez, O; Guerra, D; Nastasi, J; Escalona, J

    1999-01-01

    Achondroplasia and trisomy 21 are, within their respective categories, conditions the most frequent genetic diseases found in newborns. The simultaneous presence of both conditions in the same patient, has been however, reported only once in the world literature. In this paper we present a patient affected by both entities (Achondroplasia and Trisomy 21). The clinical findings (using, among other, achondroplasia radiography), and the reasons for the rare reported frequency of these cases are discussed

  19. Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial.

    Science.gov (United States)

    Uffmann, Madita; Rasche, Mareike; Zimmermann, Martin; von Neuhoff, Christine; Creutzig, Ursula; Dworzak, Michael; Scheffers, Lenie; Hasle, Henrik; Zwaan, C Michel; Reinhardt, Dirk; Klusmann, Jan-Henning

    2017-06-22

    Children with myeloid leukemia associated with Down syndrome (ML-DS) have superior outcome compared with non-DS patients, but suffer from higher constitutional cytotoxic drug susceptibility. We analyzed the outcome of 170 pediatric patients with ML-DS enrolled in the prospective, multicenter, open-label, nonrandomized ML-DS 2006 trial by Nordic Society for Pediatric Hematology and Oncology (NOPHO), Dutch Childhood Oncology Group (DCOG), and Acute Myeloid Leukemia-Berlin-Frankfurt-Münster (AML-BFM) study group. Compared with the historical control arm (reduced-intensity protocol for ML-DS patients from the AML-BFM 98 trial), treatment intensity was reduced by lowering the cumulative dose of etoposide (950 to 450 mg/m 2 ) and intrathecal central nervous system prophylaxis while omitting maintenance therapy. Still, 5-year overall survival (89% ± 3% vs 90% ± 4%; P log-rank = .64), event-free survival (EFS; 87% ± 3% vs 89% ± 4%; P log-rank = .71), and cumulative incidence of relapse/nonresponse (CIR/NR; 6% ± 3% vs 6% ± 2%; P Gray = .03) did not significantly differ between the ML-DS 2006 trial and the historical control arm. Poor early treatment response (5-year EFS, 58% ± 16% vs 88% ± 3%; P log rank = .0008) and gain of chromosome 8 (CIR/NR, 16% ± 7% vs 3% ± 2%, P Gray = .02; 5-year EFS, 73% ± 8% vs 91% ± 4%, P log rank = .018) were identified as independent prognostic factors predicting a worse EFS. Five of 7 relapsed patients (71%) with cytogenetic data had trisomy 8. Our study reveals prognostic markers for children with ML-DS and illustrates that reducing therapy did not impair excellent outcome. The trial was registered at EudraCT as #2007-006219-2. © 2017 by The American Society of Hematology.

  20. Atrial and Ventricular Electrocardiographic Dromotropic Disturbances in Down Syndrome Patients with Structurally Normal Heart: A Cross-Sectional Study

    Directory of Open Access Journals (Sweden)

    Yazdan Ghandi

    2018-03-01

    Full Text Available Background: We designed a cross-sectional study to determine electrocardiographic disorders in Down syndrome patients with congenitally normal hearts in a bid to predict fatal cardiac arrhythmia in the future. Materials and Methods: We investigated 60 children with DS without congenital abnormal hearts. Sixty healthy juveniles were also included in the study as a control group. Physical examination, electrocardiography, and echocardiography were performed in all subjects. Corrected QT interval (QTc was measured according to Bazett’s formula. Results: Patients with DS consisted of 32 males (53.33%, and 28 females (46.66%, aged 6–13 (9.21 ± 6.24 years old. Healthy subjects comprised 31 males (51.66%, and 29 females (48.33% with a mean age of 9.15 ± 5.01. The two groups were significantly different in terms of heart rate (P=0.006, maximum P-wave duration (P=0.001, and P-wave dispersion (PWd, P=0.0001. There was no statistically significant difference regarding minimum P-wave duration (P=0.176. The patients with DS had a greater maximum QTc interval, QT dispersion, and corrected QT interval dispersion (QTc-d than the healthy control subjects (P=0.001. However, there was no difference in maximum QT interval and minimum QTc interval between the two groups (P=0.67 and P=0.553, respectively. A positive correlation was found between age, heart rate, and all electrocardiographic variables. Conclusion: All DS patients, even in the absence of concomitant congenital heart disease should be followed up carefully by electrocardiography, looking for increased PWd and QTc-d to detect predisposed cases to arrhythmia.

  1. Comparison of radiosensitivity between human hematopoietic cell lines derived from patients with Down's syndrome and from normal persons

    International Nuclear Information System (INIS)

    Huang, C.C.; Banerjee, A.; Tan, J.C.; Hou, Y.

    1977-01-01

    Seven hematopoietic cell lines, four derived from the peripheral blood of patients with Down's syndrome (DS) and three from normal persons, were irradiated with 100, 150, 300, and 500 rads from a 60 Co source and harvested for cell count and chromosome aberration studies every 12 hours for 72 hours post irradiation. Cell growth inhibition and an increase in chromosome aberration were observed in all the cell lines at each dose level and time interval. No significant difference was observed in the effects between DS and normal cell lines. The most common types of aberrations in the 12-hour samples were chromosome and/or chromatid breaks. In the later samples, chromatid exchanges were predominant. The results of the variance analyses on the induced chromosome aberrations in six lines (three DS and three normal lines) showed radiation dosage to be the largest component of total variance, following postirradiation duration and cell lines. The samples harvested 24 and 36 hours post irradiation generally showed greater effects than the samples of other harvest durations. The cell line variance could only be attributed to the differences among and between individual cell lines rather than the difference between DS and normal cell lines

  2. Macular structural characteristics in children with Down syndrome.

    Science.gov (United States)

    O'Brien, Scott; Wang, Jingyun; Smith, Heather A; Donaldson, Dana L; Haider, Kathryn M; Roberts, Gavin J; Sprunger, Derek T; Neely, Daniel E; Plager, David A

    2015-12-01

    This prospective study aimed to investigate macular structural characteristics in children with Down syndrome compared to those in healthy children. Two groups of children (aged 6-16 years) were enrolled: children with Down syndrome (Down syndrome group, N = 17) and age-matched healthy children who were full-term at birth (control group, N = 18). Eligible patients had visual acuity of 20/100 or better and gestational age at birth of ≥ 36 weeks. Fourier domain optical coherence tomography was used for imaging of the macular retinal structure, and retinal volume scans centered on the macula were obtained. Central subfield thickness (CST) and the thickness of the inner and outer retinal layer regions were analyzed using the instrument's segmentation software. The analysis of data is provided for the right eye only, since there was no significant difference between right and left eyes for either the Down syndrome or control groups. Children in the Down syndrome group generally had identifiable retinal structure. The CST for the full retina and inner and outer retinal layers were all significantly greater in the Down syndrome group than the control group (independent t test, all p syndrome had macular thickness outside the normal range. Visual acuity in the Down syndrome group was not directly correlated with increased CST (t = 1.288, r = 0.326, p = 0.202). On average, CST in the Down syndrome group was greater than that in the control group, suggesting abnormal macular development in children with Down syndrome.

  3. Ophthalmic Disorders in Adults with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sharon J. Krinsky-McHale

    2012-01-01

    Full Text Available A myriad of ophthalmic disorders is associated with the phenotype of Down syndrome including strabismus, cataracts, and refractive errors potentially resulting in significant visual impairment. Ophthalmic sequelae have been extensively studied in children and adolescents with Down syndrome but less often in older adults. In-depth review of medical records of older adults with Down syndrome indicated that ophthalmic disorders were common. Cataracts were the most frequent ophthalmic disorder reported, followed by refractive errors, strabismus, and presbyopia. Severity of intellectual disability was unrelated to the presence of ophthalmic disorders. Also, ophthalmic disorders were associated with lower vision-dependent functional and cognitive abilities, although not to the extent that was expected. The high prevalence of ophthalmic disorders highlights the need for periodic evaluations and individualized treatment plans for adults with Down syndrome, in general, but especially when concerns are identified.

  4. CARDIOVASCULAR DISORDERS AMONG PERSONS WITH DOWN SYNDROME

    NARCIS (Netherlands)

    Vis, Jeroen C.; van Engelen, Klaartje; Bouma, Berto J.; Bilardo, Catia M.; Blom, Nico A.; Mulder, Barbara J. M.

    2010-01-01

    Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by various congenital defects, organic disorders,

  5. Down Syndrome in Adults: Staying Healthy

    Science.gov (United States)

    ... benefit from a local Down syndrome group or mentor. It helps to see what life is like ... Kids and Teens Pregnancy and Childbirth Women Men Seniors Your Health Resources Healthcare Management End-of-Life ...

  6. Posterior urethral valves and Down syndrome

    African Journals Online (AJOL)

    J. Lazarus

    2015 Pan African Urological Surgeons' Association. Production and hosting by Elsevier B.V. All rights reserved. Introduction. The first description of Down syndrome (DS) was in 1866 by the. British physician Dr. John Langdon Down [1]. Despite this long his- tory, the association of DS with congenital anomalies of the kidney.

  7. Use of a patient decision aid for prenatal screening for Down syndrome: what do pregnant women say?

    Science.gov (United States)

    Portocarrero, Maria Esther Leiva; Giguère, Anik M C; Lépine, Johanie; Garvelink, Mirjam M; Robitaille, Hubert; Delanoë, Agathe; Lévesque, Isabelle; Wilson, Brenda J; Rousseau, François; Légaré, France

    2017-03-20

    Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors influencing pregnant women's use of a patient decision aid for deciding about prenatal screening for Down syndrome (DS). This qualitative study was embedded in a sequential mixed-methods research program whose main aim is to implement shared decision-making (SDM) in the context of prenatal screening for DS in the province of Quebec, Canada. We planned to recruit a purposive sample of 45 pregnant women with low-risk pregnancy consulting for prenatal care at three clinical sites. Participating women watched a video depicting a prenatal care follow-up during which a pregnant woman, her partner and a health professional used a PtDA to decide about prenatal screening for DS. The women were then interviewed about factors that would influence the use of this PtDA using questions based on the Theoretical Domains Framework (TDF). We performed content analysis of transcribed verbatim interviews. Out of 216 eligible women, 100 agreed to participate (46% response rate) and 46 were interviewed. Regarding the type of health professional responsible for their prenatal care, 19 participants (41%) reported having made a decision about prenatal screening for DS with an obstetrician-gynecologist, 13 (28%) with a midwife, 12 (26%) with a family physician, and two (4%) decided on their own. We identified 54 factors that were mapped onto nine of the 12 TDF domains. The three most frequently-mentioned were: opinion of the pregnant woman's partner (n = 33, 72%), presentation of the PtDA by health professional and a discussion (n = 27, 72%), and not having encountered a PtDA (n = 26, 57%). This study allowed us to identify factors influencing pregnant women's use of a PtDA for prenatal screening for

  8. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  9. Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

    Directory of Open Access Journals (Sweden)

    Karol Charkiewicz

    2016-01-01

    Full Text Available Imbalance in the metabolites levels which can potentially be related to certain fetal chromosomal abnormalities can stimulate mother’s immune response to produce autoantibodies directed against proteins. The aim of the study was to determine the concentration of 9000 autoantibodies in maternal plasma to detect fetal Down syndrome. Method. We performed 190 amniocenteses and found 10 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control we chose 11 women without confirmed chromosomal aberration. To assess the expression of autoantibodies in the blood plasma, we used a protein microarray, which allows for simultaneous determination of 9000 proteins per sample. Results. We revealed 213 statistically significant autoantibodies, whose expression decreased or increased in the study group with fetal Down syndrome. The second step was to create a classifier of Down syndrome pregnancy, which includes 14 antibodies. The predictive value of the classifier (specificity and sensitivity is 100%, classification errors, 0%, cross-validation errors, 0%. Conclusion. Our findings suggest that the autoantibodies may play a role in the pathophysiology of Down syndrome pregnancy. Defining their potential as biochemical markers of Down syndrome pregnancy requires further investigation on larger group of patients.

  10. Impairment of circulating endothelial progenitors in Down syndrome

    Directory of Open Access Journals (Sweden)

    Costa Valerio

    2010-09-01

    Full Text Available Abstract Background Pathological angiogenesis represents a critical issue in the progression of many diseases. Down syndrome is postulated to be a systemic anti-angiogenesis disease model, possibly due to increased expression of anti-angiogenic regulators on chromosome 21. The aim of our study was to elucidate some features of circulating endothelial progenitor cells in the context of this syndrome. Methods Circulating endothelial progenitors of Down syndrome affected individuals were isolated, in vitro cultured and analyzed by confocal and transmission electron microscopy. ELISA was performed to measure SDF-1α plasma levels in Down syndrome and euploid individuals. Moreover, qRT-PCR was used to quantify expression levels of CXCL12 gene and of its receptor in progenitor cells. The functional impairment of Down progenitors was evaluated through their susceptibility to hydroperoxide-induced oxidative stress with BODIPY assay and the major vulnerability to the infection with human pathogens. The differential expression of crucial genes in Down progenitor cells was evaluated by microarray analysis. Results We detected a marked decrease of progenitors' number in young Down individuals compared to euploid, cell size increase and some major detrimental morphological changes. Moreover, Down syndrome patients also exhibited decreased SDF-1α plasma levels and their progenitors had a reduced expression of SDF-1α encoding gene and of its membrane receptor. We further demonstrated that their progenitor cells are more susceptible to hydroperoxide-induced oxidative stress and infection with Bartonella henselae. Further, we observed that most of the differentially expressed genes belong to angiogenesis, immune response and inflammation pathways, and that infected progenitors with trisomy 21 have a more pronounced perturbation of immune response genes than infected euploid cells. Conclusions Our data provide evidences for a reduced number and altered

  11. Prenatal treatment of Down syndrome: a reality?

    Science.gov (United States)

    Guedj, Fayçal; Bianchi, Diana W; Delabar, Jean-Maurice

    2014-04-01

    Down syndrome affects more than 5 million people globally. During the last 10 years, there has been a dramatic increase in the research efforts focused on therapeutic interventions to improve learning and memory in Down syndrome. This review summarizes the different functional abnormalities targeted by researchers in mouse models of Down syndrome. Three main strategies have been used: neural stem cell implantation; environmental enrichment and physical exercise; and pharmacotherapy. Pharmacological targets include the choline pathway, GABA and NMDA receptors, DYRK1A protein, oxidative stress and pathways involved in development and neurogenesis. Many strategies have improved learning and memory as well as electrophysiological and molecular alterations in affected animals. To date, eight molecules have been tested in human adult clinical trials. No studies have yet been performed on infants. However, compelling studies reveal that permanent brain alterations originate during fetal life in Down syndrome. Early prenatal diagnosis offers a 28 weeks window to positively impact brain development and improve postnatal cognitive outcome in affected individuals. Only a few approaches (Epigallocatechine gallate, NAP/SAL, fluoxetine, and apigenin) have been used to treat mice in utero; these showed therapeutic effects that persisted to adulthood. In this article, we discuss the challenges, recent progress, and lessons learned that pave the way for new therapeutic approaches in Down syndrome.

  12. Oxidative stress, thyroid dysfunction & Down syndrome

    Directory of Open Access Journals (Sweden)

    Carlos Campos

    2015-01-01

    Full Text Available Down syndrome (DS is one of the most common chromosomal disorders, occurring in one out of 700-1000 live births, and the most common cause of mental retardation. Thyroid dysfunction is the most typical endocrine abnormality in patients with DS. It is well known that thyroid dysfunction is highly prevalent in children and adults with DS and that both hypothyroidism and hyperthyroidism are more common in patients with DS than in the general population. Increasing evidence has shown that DS individuals are under unusual increased oxidative stress, which may be involved in the higher prevalence and severity of a number of pathologies associated with the syndrome, as well as the accelerated ageing observed in these individuals. The gene for Cu/Zn superoxide dismutase (SOD1 is coded on chromosome 21 and it is overexpressed (~50% resulting in an increase of reactive oxygen species (ROS due to overproduction of hydrogen peroxide (H 2 O 2 . ROS leads to oxidative damage of DNA, proteins and lipids, therefore, oxidative stress may play an important role in the pathogenesis of DS.

  13. Informed choice about Down syndrome screening

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Draborg, Eva; Lamont, Ronald Francis

    2015-01-01

    INTRODUCTION: The aim of this study was to evaluate the effect of an eHealth intervention (interactive website) on pregnant women's ability to make an informed choice about Down syndrome screening. MATERIAL AND METHODS: The study was designed as a randomized controlled trial with allocation...... to an intervention group and a control group in a ratio of 1:1. Subsequent subgroup analysis was conducted. Participants were recruited from 5 August 2013 to 25 April 2014 at Odense University Hospital, Denmark. Inclusion criteria were: pregnant women aged ≥18 years who were invited to participate in Down syndrome...... screening. Exclusion criteria were: high risk of abortion, psycho-socially vulnerable women, late referral, inability to speak Danish and women declining to participate. The primary outcome was informed choice about Down syndrome screening. The Multidimensional Measure of Informed Choice was used to assess...

  14. Preimplantation genetic diagnosis for Down syndrome pregnancy

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yu; XU Chen-ming; ZHU Yi-min; DONG Min-yue; QIAN Yu-li; JIN Fan; HUANG He-feng

    2007-01-01

    Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results:Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome previously, PGD can be considered, and has been shown to be an effective strategy.

  15. Explaining variation in Down's syndrome screening uptake

    DEFF Research Database (Denmark)

    Crombag, Neeltje M T H; Vellinga, Ynke E; Kluijfhout, Sandra A

    2014-01-01

    ), in an attempt to explain the observed variation in national uptake rates. METHODS: We used a mixed methods approach with an embedded design: a) documentary analysis and b) expert stakeholder analysis. National central statistical offices and legal documents were studied first to gain insight in demographic....... RESULTS: There were many similarities in the demographics, healthcare systems, government abortion legislation and Down's syndrome screening policy across the studied countries. However, the additional cost for Down's syndrome screening over and above standard antenatal care in the Netherlands...

  16. Personalized medicine for individuals with Down syndrome.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2011-01-01

    As the cost of whole genome analysis decreases, we have the opportunity to explore the interactions of various gene changes in an individual that lead to their particular phenotype. This will provide the ability to move from the epidemiologic study of groups, in which, the individuals are treated collectively and homogenously, to personalized medicine, and a model in which the individual is recognized and treated as a distinct entity. We will be applying personalized medicine to individuals with Down syndrome in order to understand and develop biomarkers for increased risk of co-morbidities. Personalized medicine will change the "culture of intractability" of Down syndrome. Copyright © 2011 Elsevier Inc. All rights reserved.

  17. Acute lymphoblastic leukemia in children with Down syndrome

    DEFF Research Database (Denmark)

    Buitenkamp, Trudy D; Izraeli, Shai; Zimmermann, Martin

    2014-01-01

    Children with Down syndrome (DS) have an increased risk of B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). The prognostic factors and outcome of DS-ALL patients treated in contemporary protocols are uncertain. We studied 653 DS-ALL patients enrolled in 16 international trials from 1995...

  18. Amniotic Fluid Cells Proliferation in Normal and Down Syndrome Subjects

    Directory of Open Access Journals (Sweden)

    Honcea Adina

    2016-02-01

    Full Text Available Down Syndrome/Trisomy 21 is the most common chromosomal anomaly, and it represents the most common congenital cause of infants’ intellectual disability. Subjects with this syndrome are affected by degenerative processes caused by accelerated aging or unknown ethyologies. In recent years, accumulating evidence revealed increased potential of amniotic fluid-derived stem cells to be used in regenerative therapy. Our aim was to assess differences in immunophenotype, cell morphology and proliferation of amniotic fluid cells from normal and Down Syndrome pregnancies using a quantitative cytometry approach. Results revealed the emergence of a population of small sized cells in Down Syndrome derived amniotic fluid cells that are readily visible upon microscopic inspection. Hence, the fluorescence–based quantitative image cytometry determinations showed a tendency of decrease in both cell and nuclei size in trisomy, with no significant modification in nuclei circularity, as measured following actin cytoskeleton and nuclei labeling. The propensity of Ki67 positive cells was found to be increased in Down Syndrome derived cells (48.92% as compared to normal specimens (28.68%. However, cells in S and G2/M cell cycle phases decreased from 32.91% to 4.49% in diseased cells. Further studies are devoted to understanding the molecular basis of the observed differences in the proliferation ability of Down Syndrome amniotic cells, in order to evaluate the potential therapeutic effect of amniotic fluid stem cells for tissue regeneration in subjects with trisomy and to find correlations between amniotic cells phenotype and patient prognosis.

  19. Incontinence in persons with Down Syndrome.

    Science.gov (United States)

    Niemczyk, Justine; von Gontard, Alexander; Equit, Monika; Medoff, David; Wagner, Catharina; Curfs, Leopold

    2017-08-01

    To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typical facial features, a physical growth delay and mild or moderate intellectual disability. Three hundred and seventeen persons with Down Syndrome (4-51 years) were recruited through a German parent support group (59.6% male, mean age 19.2 years). The Parental Questionnaire: Enuresis/Urinary Incontinence, the Incontinence Questionnaire-Pediatric Lower Urinary Tract Symptoms, as well as the Developmental Behavior Checklist (DBC) for parents or for adults were filled out by parents or care-givers. 17.2% of the sample had nocturnal enuresis, 15.9% had daytime urinary incontinence, and 14.2% had fecal incontinence. Incontinence was present in 64.0% of young children (4-12 years), 10.3% of teens (13-17 years), 12.8% of young adults (18-30 years) and in 22.4% of older adults (>30 years). 13.6% of children and 8.4% of adults had a DBC score in the clinical range. 19.5% of children and 27.8% of adults with incontinence had behavioral problems. There was a significant association between nocturnal enuresis, daytime urinary incontinence and clinical DBC scores in adults. Incontinence in Down Syndrome is mainly present in young children and increases in older adults. Behavioral comorbidity is associated with incontinence only in adults with Down Syndrome. Screening and treatment of incontinence in individuals with Down Syndrome is recommended. © 2016 Wiley Periodicals, Inc.

  20. Demens hos personer med Downs syndrom

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Jørgensen, Kasper

    2014-01-01

    In developed countries the population of elderly people with Down syndrome expands resulting in an increasing incidence of age-related diseases, including dementia. The assessment of dementia in individuals with intellectual disability is often complicated due to large intra-individual variability...

  1. Treatment Approaches in Down's Syndrome: A Review.

    Science.gov (United States)

    Foreman, Philip J.; Ward, James

    1986-01-01

    The paper reviews research into treatment approaches in Down's Syndrome. Pharmacological treatments reviewed include thyroid therapy, 5-hydroxytryptophan, vitamin therapy, and cell therapy. Other treatments considered are movement patterning, early intervention, and facial surgery. Early educational intervention is seen as the most effective…

  2. Down syndrome and aberrant right subclavian artery

    NARCIS (Netherlands)

    Roofthooft, Marcus T. R.; van Meer, Hester; Rietman, Wim G.; Ebels, Tjark; Berger, Rolf M. F.

    Down syndrome (DS) may be associated with various organ system disorders. Feeding problems are frequent in children with DS and may be caused by associated defects, including congenital heart defects, gastrointestinal defects, or endocrine disorders. In the absence of these associated conditions,

  3. Memory Performance in Adults with Down Syndrome.

    Science.gov (United States)

    Simon, Elliott W.; And Others

    1995-01-01

    The memory abilities of adults (N=20) with Down Syndrome (DS) were compared to subjects matched on age and IQ and on age alone. Three memory tasks were employed: facial recognition, free recall of pictures and words, and cued recall of separate or interacting pictures. In DS individuals, memory was improved primarily by practice and interactive…

  4. Emotion Regulation in Children with Down Syndrome.

    Science.gov (United States)

    Smith, Maureen C.; Walden, Tedra A.

    This study presents a preliminary exploration of emotion regulation in a sample of 20 children (ages 3-18 years) with Down Syndrome. Three aspects of emotion regulation (modulation, organization, flexibility) were predicted from emotion variables (affect intensity, affective expression, and autonomy-curiosity and motivation) in backward regression…

  5. Nuchal translucency beyond Down syndrome screening

    NARCIS (Netherlands)

    Timmerman, E.

    2013-01-01

    Nuchal translucency (NT) goes far beyond Down syndrome screening. An enlarged NT is associated with a wide range of structural and genetic anomalies. A detailed first trimester scan is an important step in screening for those anomalies and in individual risk assessment. All pregnant women should be

  6. [Closure of wide patent ductus arteriosus using a fenestrated muscular VSD occluder device in a pediatric patient with Down syndrome and pulmonary hypertension].

    Science.gov (United States)

    Güvenç, Osman; Saygı, Murat; Demir, İbrahim Halil; Ödemiş, Ender

    2017-06-01

    Patients with wide patent ductus arteriosus and significant pulmonary hypertension not treated in time constitute a significant problem for cardiologists. For these patients, tests that could aid in decision-making for further planning include reversibility and balloon occlusion tests performed in the catheterization laboratory. Devices developed for the closure of ductus as well as different devices with off-label use may be employed in patients scheduled for transcatheter occlusion. When result of reversibility test is borderline positive, the use of fenestrated device may be applicable for selected patients. Presently described is case of a 10-year-old patient with Down syndrome who had a wide ductus and systemic pulmonary hypertension. Transcatheter closure procedure was performed with off-label use of a fenestrated muscular ventricular septal defect occluder device.

  7. Bone mineral density in adults with Down`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Angelopoulou, N.; Souftas, V.; Mandroukas, K. [Ergophysiology Lab., Aristotle Univ. of Thessaloniki, Thessaloniki (Greece); Sakadamis, A. [Medical School, Aristotle Univ. of Thessaloniki (Greece)

    1999-05-01

    The objective of the study was to elucidate if individuals with Down`s syndrome (DS) are likely to experience an increased risk of osteoporosis with advancing age, in addition to precocious aging and their skeletal anomalies. Bone mineral density (BMD) was measured in 22 home-reared adults (9 males and 13 females; age 26.22 {+-} 4.45 and 23.65 {+-} 3.23 years, respectively) by dual energy X-ray absorptiometry (DXA). The BMD of the second to fourth lumbar vertebrae was measured in posteroanterior projection and the mean density expressed as grams per square centimetre. The BMD of DS individuals was compared with 27 control subjects (12 males and 15 females) of the same age (age 24.16 {+-} 3.46 and 23.86 {+-} 2.92 years, respectively). The results showed that the BMD of the lumbar spine in the males as well as in the females with DS was significantly lower than that in their control counterparts (p < 0.001). Comparing the DS males with the females, the BMD was lower in the males at a level of 9 %. Factors that contribute to this disorder may be mainly the muscular hypotonia, the sedentary lifestyle and the accompanying diseases which frequently observed in the syndrome. Future studies must be focused on the biochemistry of bone metabolism, the evaluation of gonadal, thyroid and parathyroid function, and the genes of the extra chromosome 21. (orig.) With 1 tab., 21 refs.

  8. Normal inhibition of DNA synthesis following γ-irradiation of radiosensitive cell lines from patients with Down's syndrome and Alzheimer's disease

    International Nuclear Information System (INIS)

    Lavin, M.F.; Le poidevin, P.; Chen, P.C.; Bates, P.

    1989-01-01

    Inhibition of DNA synthesis was studied in γ-iradiated lymphoblastoid cells from patients with Alzheimer's disease and Down's syndrome. A normal biphasic pattern of inhibition was observed over a dose range of 0-4 krad of γ-rays in all of the cell lines 3 out of 4 Down's and all the Alzheimer's cell lines were shown to be hypersensitive to ionizing radiation based on induced chromosomal aberrations. Increased G2 phase delay, comparable to that occurring in ataxia-telangiectasia cells, was observed for some of the cell lines, after exposure to γ-rays. Contrary to other data in the literature these results demonstrate that radioresistand DNA synthesis is not an intrinsic feature of all disorders characterized by radiosensitivitey. (author).; 25 refs.; 2 figs.; 1 tab

  9. Hematological parameters in children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Renato Nisihara

    2015-04-01

    Full Text Available Introduction: There are few studies that investigated whether Down syndrome (DS interferes with references values for complete blood counts (CBC test in children with the syndrome. Objective: This study aimed to analyze the results of CBC performed in children with DS. Patients and methods: Data from CBC of DS children were included; at the time of examination they were aged between 2 and 10 years and had no clinical signs and/or symptoms of infectious disease. The hematological parameters analyzed were: total number of erythrocytes (RBC, hemoglobin (Hb concentration, hematological indices, platelet count, and total number of leucocytes. Additionally, we compared the collected parameters according to gender and age of the children studied. Results: A total of 203 CBC (100 girls and 103 boys were evaluated. In general, no significant differences were observed in studied parameters between the values found in samples of DS children and the values described in the literature as a reference for children in this age group. No difference in the prevalence of anemia was observed in relation to gender (p = 0.33, 14/103 (13.6% boys, and 11/100 (11% girls had anemia. However, the Hb and hematological indices values found in boys was significantly lower than in girls (p < 0.001. Conclusion: This investigation is the first one in Brazil to present and analyze the CBC results of DS children, reporting that their hematological indices are within the expected range for children without DS. Additionally, it was found that 12.3% of them had anemia.

  10. Defective G2 repair in Down syndrome

    International Nuclear Information System (INIS)

    Pincheira, J.; Rodriguez, M.; Bravo, M.; Navarrete, M.H.; Lopez-Saez, J.F.

    1994-01-01

    Lymphocytes from both Down syndrome (DS) patients and age-matched control donors have been investigated to identify a possible disturbance in chromosomal G2 repair. Analyses of caffeine treatments during G2 have shown that the frequency of chromosomal aberrations is higher in DS lymphocytes than in normal lymphocytes. Likewise, G2 duration is longer in DS cells than in normal cells. In both control and DS lymphocytes, caffeine treatments increase the frequencies of chromatid breakages and decrease the average of G2 duration. The reversal of the caffeine potentiation effect by adenosine and niacinamide is higher in DS cells than in normal cells. Furthermore, ATP content per cell in DS lymphocytes is one third of that estimated in normal lymphocytes. The increase of ATP level produced by adenosine or niacinamide generally correlates with the reversal of the caffeine effect on chromosome aberrations. Under the experimental conditions tested, a good negative exponential correlation between ATP level and chromosome aberrations has been detected in both normal and DS lymphocytes which were or were not X-irradiated. Finally, we postulate a decrease in G2 repair capability of DS lymphocytes caused by a low availability of ATP and/or some other factor correlating with it. (au)

  11. Reflections on the pathogenesis of Down syndrome.

    Science.gov (United States)

    Opitz, J M; Gilbert-Barness, E F

    1990-01-01

    Present efforts to identify, isolate, and characterize in molecular terms the "consensus" segment of 21q sufficient to cause most of the major and some of the most characteristic minor manifestations of Down syndrome will soon provide answers to many questions. However, we think that a reductionist approach to explain the Down syndrome phenotype in a "linear" manner from the DNA sequence of the segment will be doomed to failure from the outset because of the open, complex, nonlinear, hierarchical nature of morphogenetic systems. Neo-Darwinism is under strong attack; most genetic changes accumulated over time may very well be of neutral effect, and detailed studies in several related groups of vertebrate species has shown that molecular and organismal evolution are largely independent of one another. It has been pointed out recently that biology lacks a theory of ontogenetic and phylogenetic development, and that a purely "genocentric" view of biology at the expense of the complexly hierarchical intrinsic epigenetic attributes of developmental systems is "out of focus with respect to ... biological organization and morphogenesis," and may be "a residue of nineteenth century romantic idealism." Down syndrome impresses us as a paradigm of increased developmental variability due to a deceleration of the rate of development (neoteny) with many anomalies of incomplete morphogenesis (vestigia), atavisms, increased morphometric variability with many decreased means, increased variances, and increased fluctuating asymmetry. These abnormalities, together with highly increased risk of prenatal death and postnatal morbidity, impaired growth, and abnormal CNS and gonadal structure and function characteristic of most aneuploidy syndromes, suggest to us that the pathogenesis of Down syndrome is best viewed in terms of the mechanisms of speciation. Transgenic experiment involving sequential or overlapping pieces of "the consensus segment" on distal 21q22.1-22.3 may help decide to

  12. Demens hos personer med Downs syndrom

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Jørgensen, Kasper

    2014-01-01

    In developed countries the population of elderly people with Down syndrome expands resulting in an increasing incidence of age-related diseases, including dementia. The assessment of dementia in individuals with intellectual disability is often complicated due to large intra-individual variability...... in cognitive functioning prior to dementia and to lack of standardised measures to detect dementia. Structured observations of symptoms of dementia and assessment techniques tailored for people with intellectual disability are increasingly needed....

  13. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  14. Years of life lost through Down's syndrome.

    Science.gov (United States)

    Jones, M B

    1979-10-01

    A congenital genetic condition does not act either as a cause of death or at the time of death only. Hence, years of life lost through such a conditon cannot be calculated in the same way as for a conventional cause of death. The main difference is that a cause of death acting at age x cuts off as many years of life as the dead person might otherwise have expected to live (life expectancy at age x), whereas a congenital genetic condition exposes an affected person to a different schedule of life-threatening risks from birth onwards. In the latter case, years of life lost is calculated as the difference in life expectancy at birth for affected and non-affected persons. This reasoning is worked out in algebraic form and then applied to Down's syndrome. The data base is provided by two large and recent studies, one in Massachusetts and the other in Denmark, of mortality rates among all cases of Down's syndrome, whether in an institution or not, born during a given period of years or living at a given point in time in a fixed geographical area. So calculated, years of life lost through Down's syndrome relative to the United States general population in 1970 was 53.6 years per 1000 livebirths. Prenatal mortality is also discussed.

  15. What can we learn from study of Alzheimer's disease in patients with Down syndrome for early-onset Alzheimer's disease in the general population?

    OpenAIRE

    Wallace, Robyn A; Dalton, Arthur J

    2011-01-01

    The clinical and scientific study of dementia in adults with Down syndrome led to the development of the amyloid hypothesis as a fundamental concept in Alzheimer's disease pathogenesis. The journey started with the discovery of the structure and metabolic processing of ?-amyloid brain deposits associated with Alzheimer's dementia in adults with Down syndrome, and then the prediction and confirmation of the amyloid precursor protein gene on chromosome 21. The processes and genes responsible fo...

  16. Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

    Science.gov (United States)

    Kurosawa, Kenji; Enomoto, Keisuke; Tominaga, Makiko; Furuya, Noritaka; Sameshima, Kiyoko; Iai, Mizue; Take, Hiroshi; Shinkai, Masato; Ishikawa, Hiroshi; Yamanaka, Michiko; Matsui, Kiyoshi; Masuno, Mitsuo

    2012-06-01

    Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P quadriplegia among 17 patients with congenital duodenal stenosis/atresia without Down syndrome admitted during the same period to use as a control group (0/17, P quadriplegia in patients with Down syndrome. Long-term survival is improving, and the large majority of people with Down syndrome are expected to live well into adult life. Management and further study for the various problems, representing a low prevalence but serious and specific to patients with Down syndrome, are required to improve their quality of life. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  17. Inferential processes in readers with Down syndrome

    Directory of Open Access Journals (Sweden)

    Rosende-Vázquez, Marta

    2013-03-01

    Full Text Available The aim of this work is to know if the source of the difficulty in making inferences, readers with Down syndrome, is in access to prior knowledge or constructing ideas from purely textual knowledge (based on Saldaña and Frith, 2002 for autism. Involved a sample of 20 students with Down syndrome and mild mental retardation (mean IQ = 60 and a control group of 20 children without cognitive deficits. They were matched as to their extent read metal age via Prueba de Evaluación del Retraso Lector (average 8 years. We created two experimental situations: a subjects had to generate inferences based on physical knowledge, b social inferences about knowledge. The ability to check and reaction times in the activation of inferences about physical and social knowledge. We also analyzed the influence that the effect "priming". Results showed: a a rate of correct inferences similar verification tasks between the two groups, b Down subjects take longer to access knowledge that the previous text, c reaction times used by subjects Down were higher in activating physical inferences, d there were no significant differences in the population without reaction times gap between physical and social inferences e subjects without deficits benefited effect "priming" in both types of inferences f Down subjects only improve reaction time in the inferences of social nature. El presente estudio pretende conocer si el origen de la dificultad para realizar inferencias, en lectores con Síndrome de Down, se encuentra en el acceso al conocimiento previo o en la construcción de ideas a partir del conocimiento puramente textual (basándonos en Saldaña y Frith, 2002 para autismo. Participó una muestra de 20 alumnos con Síndrome de Down y discapacidad mental leve (media de C.I.= 60 y un grupo control de 20 alumnos sin déficit cognitivo. Ambos fueron igualados en cuanto a su edad mental lectora medida a través de la Prueba de Evaluación del Retraso Lector (media 8 a

  18. Phonological Processing in CFhildren with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Zahra Soleymani

    2005-06-01

    Full Text Available Objective: To determine phonological processing in elemantery children with Down syndrome Materials and Methods: Phonetic test is used to extract phonological processing in 40 child with Down syndrome .They were normal in hearing and oral structure. Results: There was significant difference between girls and boys in some subgroups of phonological processing. In assimilation, voiceless assimilation in boys and complete assimilation in girls were the most. Nasal assimilation in girls and fricative assimilation in boys were the least. In substitution, the least mean belonged to liquid and nasal substitution in girls and voice ness substitution in boys. In general there was no significant difference between age and phonological awareness; however, there was direct correlation between syllable structure and age and reverse correlation between age and stop assimilation. Conclusion: In addition to 3 groups of phonological processing including: syllable structure, assimilation, and substitution, omission was seen. The difference between girls and boys indicates they are impressed by the phonetic structure of words in different ways. Correlation between age and phonological processing shows phonological errors may be resulted from deviation.

  19. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  20. Call for change in prenatal counseling for Down syndrome.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2012-03-01

    The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information that may be outdated. Those providing counseling and those providing medical care could benefit from contact with individuals with Down syndrome outside the medical context. It is imperative that each person with Down syndrome be viewed as a unique individual with particular talents. Medical care providers should work with parents to help the child or adult with Down syndrome reach his/her goals. Copyright © 2012 Wiley Periodicals, Inc.

  1. Potencial evocado auditivo tardio relacionado a eventos (P300 na síndrome de Down Late auditory event-related evoked potential (P300 in Down's syndrome patients

    Directory of Open Access Journals (Sweden)

    Carla Patrícia Hernandez Alves Ribeiro César

    2010-04-01

    Full Text Available A síndrome de Down é causada pela trissomia do cromossomo 21 e está associada com alteração do processamento auditivo, distúrbio de aprendizagem e, provavelmente, início precoce de Doença de Alzheimer. OBJETIVO: Avaliar as latências e amplitudes do potencial evocado auditivo tardio relacionado a eventos (P300 e suas alterações em indivíduos jovens adultos com síndrome de Down. MATERIAL E MÉTODO: Estudo de caso prospectivo. Latências e amplitudes do P300 foram avaliadas em 17 indivíduos com síndrome de Down e 34 indivíduos sadios. RESULTADOS: Foram identificadas latências do P300 (N1, P2, N2 e P3 prolongadas e amplitude N2 - P3 diminuída nos indivíduos com síndrome de Down quando comparados ao grupo controle. CONCLUSÃO: Em indivíduos jovens adultos com síndrome de Down ocorre aumento das latências N1, P2, N2 e P3, e diminuição significativa da amplitude N2-P3 do potencial evocado auditivo tardio relacionado a eventos (P300, sugerindo prejuízo da integração da área de associação auditiva com as áreas corticais e subcorticais do sistema nervoso central.Down syndrome is caused by a trisomy of chromosome 21 and is associated with central auditory processing deficit, learning disability and, probably, early-onset Alzheimer's disease. AIM: to evaluate the latencies and amplitudes of evoked late auditory potential related to P300 events and their changes in young adults with Down's syndrome. MATERIALS AND METHODS: Prospective case study. P300 test latency and amplitudes were evaluated in 17 individuals with Down's syndrome and 34 healthy individuals. RESULTS The P300 latency (N1, P2, N2 and P3 was longer and the N2-P3 amplitude was lower in individuals with Down syndrome when compared to those in the control group. CONCLUSION: In young adults with Down syndrome, N1, P2, N2 and P3 latencies of late auditory evoked potential related to P300 events were prolonged, and N2 - P3 amplitudes were significantly reduced

  2. Teaching spontaneous responses to a young child with Down syndrome.

    Science.gov (United States)

    Feeley, Kathleen; Jones, Emily

    2008-10-01

    Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across responses, we demonstrated the effectiveness of discrete trial instruction in establishing spontaneous responses in a preschooler with Down syndrome. Spontaneous responses generalised to a novel setting involving a novel person and novel materials. Implications for the use of behaviourally based interventions to address the social-communicative needs of children with Down syndrome are discussed.

  3. Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

    Science.gov (United States)

    Catic, Aida; Gurbeta, Lejla; Kurtovic-Kozaric, Amina; Mehmedbasic, Senad; Badnjevic, Almir

    2018-02-13

    The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying and reporting prenatal diagnostics would greatly help the clinicians with their routine work. The database consisted of data collected from 2500 pregnant woman that came to the Institute of Gynecology, Infertility and Perinatology "Mehmedbasic" for routine antenatal care between January 2000 and December 2016. During first trimester all women were subject to screening test where values of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (β-hCG) were measured. Also, fetal nuchal translucency thickness and the presence or absence of the nasal bone was observed using ultrasound. The architectures of linear feedforward and feedback neural networks were investigated for various training data distributions and number of neurons in hidden layer. Feedback neural network architecture out performed feedforward neural network architecture in predictive ability for all five aneuploidy prenatal syndrome classes. Feedforward neural network with 15 neurons in hidden layer achieved classification sensitivity of 92.00%. Classification sensitivity of feedback (Elman's) neural network was 99.00%. Average accuracy of feedforward neural network was 89.6% and for

  4. Numerical estimation in individuals with Down syndrome.

    Science.gov (United States)

    Lanfranchi, Silvia; Berteletti, Ilaria; Torrisi, Erika; Vianello, Renzo; Zorzi, Marco

    2014-10-31

    We investigated numerical estimation in children with Down syndrome (DS) in order to assess whether their pattern of performance is tied to experience (age), overall cognitive level, or specifically impaired. Siegler and Opfer's (2003) number to position task, which requires translating a number into a spatial position on a number line, was administered to a group of 21 children with DS and to two control groups of typically developing children (TD), matched for mental and chronological age. Results suggest that numerical estimation and the developmental transition between logarithm and linear patterns of estimates in children with DS is more similar to that of children with the same mental age than to children with the same chronological age. Moreover linearity was related to the cognitive level in DS while in TD children it was related to the experience level. Copyright © 2014. Published by Elsevier Ltd.

  5. Efficacy and safety of oral sildenafil in children with Down syndrome and pulmonary hypertension.

    Science.gov (United States)

    Beghetti, Maurice; Rudzinski, Andrzej; Zhang, Min

    2017-07-04

    Despite the increased risk for pulmonary hypertension in children with Down syndrome, the response to treatment with targeted therapies for pulmonary hypertension in these patients is not well characterized. The Sildenafil in Treatment-naive children, Aged 1-17 years, with pulmonary arterial hypertension (STARTS-1) trial was a dose-ranging study of the short-term efficacy and safety of oral sildenafil in children with pulmonary arterial hypertension. We assessed the safety and efficacy of oral sildenafil in children with Down syndrome and pulmonary arterial hypertension. This was a post-hoc analysis of children with Down syndrome and pulmonary arterial hypertension enrolled in the STARTS-1 trial. Mean pulmonary arterial pressure (mPAP), pulmonary vascular resistance index (PVRI), and cardiac index (CI) were assessed at baseline and following 16 weeks of treatment with sildenafil. Of 234 patients randomized and treated in the STARTS-1 trial, 48 (20.5%) had Down syndrome. Although sildenafil produced dose-related reductions in PVRI and mPAP, compared with placebo, in non-Down syndrome patients and children developmentally able to exercise, this was not satisfactorily marked in patients with Down syndrome. The dose-related reductions in PVRI, compared with placebo, occurred in all subgroups, with the exception of the Down syndrome subgroup. Sildenafil appeared to be well tolerated in the Down syndrome subpopulation and the most frequently reported AEs were similar to those reported for the entire STARTS-1 population. Sildenafil treatment for 16 weeks had no effect on PVRI or mPAP in children with Down syndrome and pulmonary arterial hypertension. The results suggest that children with Down syndrome may be less responsive to sildenafil for pulmonary arterial hypertension, but the incomplete work-up for the etiology of pulmonary arterial hypertension may have introduced a potential bias. Study received, September 8, 2005 (retrospectively registered); Study start

  6. Craniospinal Germinomas in Patient with Down Syndrome Successfully Treated with Standard-Dose Chemotherapy and Craniospinal Irradiation: Case Report and Literature Review.

    Science.gov (United States)

    Miyake, Yohei; Adachi, Jun-Ichi; Suzuki, Tomonari; Mishima, Kazuhiko; Sasaki, Atsushi; Nishikawa, Ryo

    2017-12-01

    Patients with Down syndrome (DS) are more likely to develop chemotherapy-related complications. The standard treatment for these patients with cancer has not yet been established, and the risks of standard chemotherapy are unclear. In this paper, a rare case of multiple craniospinal germinomas in a patient with DS, which was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation, is reported. The authors report a case of multiple craniospinal germinomas in a DS patient who presented with bilateral oculomotor and facial nerve palsy and hearing loss. The patient underwent 3 courses of combination chemotherapy using a standard dose of carboplatin and etoposide and 23.4 Gy of concurrent craniospinal irradiation. Posttreatment magnetic resonance imaging showed reduction of the tumors. Both fluorodeoxyglucose- and methionine-positron emission tomography demonstrated no uptake in the residual tumors. Follow-up magnetic resonance imaging and positron emission tomography did not reveal tumor recurrence for 18 months. As far as we know, this is the first case of multiple craniospinal germinomas in a patient with DS who achieved a successful treatment result without fatal adverse events. The literature review indicated that disseminated germinomas may need intensive treatment to reduce recurrence risk. However, intensive chemotherapy using a combination of 3 or more anticancer drugs can increase the rate of treatment-related death during the early stage. Our case indicated that multiple craniospinal germinoma of DS patients could be treated with a standard dose of carboplatin and etoposide regimen with concurrent craniospinal irradiation along with appropriate supportive therapy and careful observation. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Executive function in adolescents with Down Syndrome.

    Science.gov (United States)

    Lanfranchi, S; Jerman, O; Dal Pont, E; Alberti, A; Vianello, R

    2010-04-01

    The present work is aimed at analysing executive function (EF) in adolescents with Down Syndrome (DS). So far, EF has been analysed mainly in adults with DS, showing a pattern of impairment. However, less is known about children and adolescents with this syndrome. Studying adolescents with DS might help us better understand whether performances on EF tasks of individuals with DS are determined by age or by Alzheimer disease, as some studies suggest, or whether their performances are directly related to DS cognitive profile. A battery of EF tasks assessing set shifting, planning/problem-solving, working memory, inhibition/perseveration and fluency, as well as a tasks assessing sustained attention has been administered to a group of 15 adolescents with DS and 15 typically developing children matched for mental age. All EF tasks were selected from previous studies with individuals with intellectual disabilities or from developmental literature and are thought to be useful for the samples considered. The present results revealed that the group of individuals with DS performed at a significantly lower level on tasks assessing set shifting, planning/problem-solving, working memory and inhibition/perseveration, but not on the tasks assessing fluency. In addition, individuals with DS demonstrated a greater number of errors and less strategy use for the sustained attention task. The results suggest a broad impairment in EF in adolescents with DS, and are consistent with several similar studies conducted with adults with DS. We assume that EF deficit is a characteristic of DS.

  8. Lymphocyte concanavalin A capping: a similarity between Down's syndrome and early onset primary degenerative dementia.

    OpenAIRE

    Duijndam-van den Berge, M; Goekoop, J G

    1986-01-01

    Lymphocyte capping with concanavalin A was studied in adult patients with Down's syndrome and aged patients with primary degenerative dementia. In both disorders a decreased capping was found as compared with age-matched and clinically relevant control groups. Colchicine had a strong enhancing effect on capping in Down's syndrome. In primary degenerative dementia the enhancing effect of colchicine was restricted to a subgroup of patients with onset of the dementing illness before the age of 8...

  9. Cephalometrics in children with Down's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Quintanilla, Juan Suarez; Biedma, Benjamin Martin; Rodriguez, Maximino Quintans; Mora, Maria Teresa Jorge; Cunqueiro, Maria Mercedes Suarez; Pazos, Mayte Abeleira [Faculty of Medicine and Dentistry, University of Santiago, San Francisco s/n, 15705 Santiago de Compostela (Spain)

    2002-09-01

    Heading AbstractAims. To describe the craniofacial morphology of a group of patients with Down's syndrome using a cephalometric analysis of the lateral skull radiograph.Materials and methods. The studied sample consisted of 39 patients with Down's syndrome (24 boys, 15 girls) ranging from 7 to 18 years of age. The computerized cephalometric study of the lateral skull radiograph of each patient was carried out using the method described by Ricketts.Results.Anterior cross-bite was observed in 38.4% of patients and diminished interincisal angle in 77%. Skeletal parameters matched the clinical norm, indicating mesofacial biotype, i.e., normal maxillomandibular growth. The lower incisors protruded in 84.6% of the individuals studied and were proinclined in 77%; upper incisors were protruded in 77% of the sample. The lower lip protruded in 84.6%. Analysis of craniofacial parameters showed average values within the clinical norm. Analysis of the inner cranium demonstrated normal inclination of the cranial base, while the length of the anterior skull base was diminished in 53.8%.Conclusions. From the skeletal perspective, patients with Down's syndrome who are in a period of growth demonstrate a reduction of the anterior skull base. From the dentoalveolar perspective, they show protrusion and proinclination of lower incisors, which is related to a tendency to anterior cross-bite and, to a lesser extent, to diminished overbite. Likewise, the lower lip protrusion observed in this study is related to the position of the lower incisor. (orig.)

  10. Gait Development during Lifespan in Subjects with Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Albertini, Giorgio

    2011-01-01

    In this work we studied and evaluated the effects of aging in a group of individuals with Down syndrome, using gait analysis as tool of investigation. 32 individuals suffering from Down syndrome (DS) were enrolled in this study as group of pathological participants. The control group (CG) was composed by 36 healthy subjects (10 children, 15…

  11. Is cardiac surgery warranted in children with Down syndrome? A ...

    African Journals Online (AJOL)

    Objectives. To compare children with Down syndrome and children without Down syndrome and investigate whether there is a significant difference in the burden that is placed on the health care system between these two groups only in respect of the repair of congenital heart disease at Red Cross War Memorial Children's ...

  12. Quality assessment in prospective nuchal translucency screening for Down syndrome

    DEFF Research Database (Denmark)

    Wøjdemann, K R; Christiansen, M; Sundberg, K

    2001-01-01

    OBJECTIVES: To develop and apply a quality control system in a Down syndrome screening study using nuchal translucency as an interventional marker. METHODS: In a prospective Down syndrome screening study fetal nuchal translucency thickness was measured in 9236 of the 10 045 examined pregnancies...

  13. Psychiatric Symptoms in Adults with Down Syndrome and Alzheimer's Disease

    Science.gov (United States)

    Urv, Tiina K.; Zigman, Warren B.; Silverman, Wayne

    2010-01-01

    Changes in psychiatric symptoms related to specific stages of dementia were investigated in 224 adults 45 years of age or older with Down syndrome. Findings indicate that psychiatric symptoms are a prevalent feature of dementia in the population with Down syndrome and that clinical presentation is qualitatively similar to that seen in Alzheimer's…

  14. Posterior urethral valves and Down syndrome | Lazarus | African ...

    African Journals Online (AJOL)

    The broad range of renal and urinary tract abnormalities associated with Down syndrome are not well known. We present two cases from a single institution of posterior urethral valves associated with Down syndrome. The cases illustrate the potential for delayed diagnosis and the management challenges. The literature is ...

  15. Do the MTHFR gene polymorphism and Down syndrome pregnancy ...

    African Journals Online (AJOL)

    Background: Down syndrome, the most common trisomy 21 arises from abnormal chromosomal segregation. The etiology includes genetic and acquired factors. The main genetic factor that is well appreciated for onset of Down syndrome pregnancy is MTHFR gene polymorphism. But till date, no final conclusion has arrived ...

  16. Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

    Science.gov (United States)

    Walby, A P; Schuknecht, H F

    1984-07-01

    Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

  17. Use of a patient decision aid for prenatal screening for Down syndrome: what do pregnant women say?

    NARCIS (Netherlands)

    Portocarrero, M.E.; Giguere, A.M.; Lepine, J.; Garvelink, M.M.; Robitaille, H.; Delanoe, A.; Levesque, I.; Wilson, B.J.; Rousseau, F.; Legare, F.

    2017-01-01

    BACKGROUND: Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors

  18. Web Untuk Deteksi Dini Tingkat Retardasi Down Syndrome Pada Anak

    OpenAIRE

    Leonita, Christine; Sevani, Nina

    2015-01-01

    Down Syndrome is a condition of physical and mental development's retardation in children that caused by abnormalities in the development of the chromosome. However, behind the special needs held by children with Down syndrome, they have a chance to live like any other normal child.This study aims to create a web-base application that can assist parents to make early detection of the retardation level of Down Syndrome in children, as well as provide information about how to deal with Down Syn...

  19. Foot Structure in Boys with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Ewa Puszczałowska-Lizis

    2017-01-01

    Full Text Available Introduction and Aim. Down syndrome (DS is associated with numerous developmental abnormalities, some of which cause dysfunctions of the posture and the locomotor system. The analysis of selected features of the foot structure in boys with DS versus their peers without developmental disorders is done. Materials and Methods. The podoscopic examination was performed on 30 boys with DS aged 14-15 years. A control group consisted of 30 age- and gender-matched peers without DS. Results. The feet of boys with DS are flatter compared to their healthy peers. The hallux valgus angle is not the most important feature differentiating the shape of the foot in the boys with DS and their healthy peers. In terms of the V toe setting, healthy boys had poorer results. Conclusions. Specialized therapeutic treatment in individuals with DS should involve exercises to increase the muscle strength around the foot joints, enhancing the stabilization in the joints and proprioception. Introducing orthotics and proper footwear is also important. It is also necessary to monitor the state of the foot in order to modify undertaken therapies.

  20. Clinical Characteristics of Dysphagia in Children with Down Syndrome.

    Science.gov (United States)

    Jackson, Arwen; Maybee, Jennifer; Moran, Maura K; Wolter-Warmerdam, Kristine; Hickey, Francis

    2016-10-01

    Aspiration is an often unrecognized comorbidity in children with Down syndrome with serious medical consequences. This retrospective chart review of swallow study reports characterizes oral and pharyngeal phase dysphagia and diet modifications on videofluoroscopic swallow studies (VFSS) in a large cohort of children with Down syndrome. A total of 158 pediatric patients (male = 95; female = 63; mean age 2.10 years, SD 3.17 years) received an initial VFSS at a pediatric teaching hospital as part of their medical care. A total of 56.3 % (n = 89) children had pharyngeal phase dysphagia with aspiration and deep laryngeal penetration occurring most frequently. Of the 61 patients who aspirated, 90.2 % (n = 55) did so silently with no cough or overt clinical symptoms. In 76.7 % of cases of pharyngeal phase dysphagia, a functional feeding plan, with use of thickened liquids or change in feeding system to control flow rate and/or bolus size, was able to be established, which allowed children to continue eating by mouth. Thickened liquids (76.7 %, n = 46) were the most effective adaptation, with change in feeding system alone effective in only 8.3 % (n = 5) cases. Oral phase dysphagia was reported in the majority of patients (63.8 %, n = 88/138); however, this was not predictive of pharyngeal phase dysphagia. Age, sex, and reason for referral, including prior clinical symptoms, did not have a statistically significant impact on the presence of dysphagia. This comprehensive review has application to clinical understanding and management of dysphagia in children with Down syndrome.

  1. Informed Choice for Participation in Down Syndrome Screening

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Hansen, Helle Ploug; Draborg, Eva

    2015-01-01

    Decision Aid Standards (IPDAS) Collaboration guide to develop a patient decision aid, and the roadmap for developing eHealth technologies from the Center for eHealth Research and Disease Management (CeHRes). The methods employed were a systematic literature search, focus group interviews with 3 care...... providers, and technology experts as stakeholders. To our knowledge, there has been no research on the combination of IPDAS standards and the CeHRes roadmap to develop an eHealth tool to target information about screening for Down syndrome....

  2. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

    OpenAIRE

    Hill, Elizabeth A.

    2016-01-01

    Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

  3. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  4. Risikovurdering for Downs syndrom i Danmark--sekundaerpublikation

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Andersen, Hans Jakob; Christensen, Jeanette

    2010-01-01

    In 2004 The Danish National Board of Health introduced a new guideline regarding prenatal screening. All pregnant women are now offered a Down's syndrome risk assessment. The new guideline has had an impact on the number of invasive early prenatal procedures. The number of procedures fell by 50......% from 2000 to 2006. 90% of the foetuses with Down's syndrome are detected prenatally. Denmark is one of the first countries in the world in which risk assessment for Down's syndrome has been successfully implemented at a national level....

  5. Risikovurdering for Downs syndrom i Danmark - sekundærpublikation

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Andersen, Hans Jakob; Christensen, Jeanette

    2010-01-01

    In 2004 The Danish National Board of Health introduced a new guideline regarding prenatal screening. All pregnant women are now offered a Down's syndrome risk assessment. The new guideline has had an impact on the number of invasive early prenatal procedures. The number of procedures fell by 50......% from 2000 to 2006. 90% of the foetuses with Down's syndrome are detected prenatally. Denmark is one of the first countries in the world in which risk assessment for Down's syndrome has been successfully implemented at a national level. Udgivelsesdato: 2010-Jun-7...

  6. Risikovurdering for Downs syndrom i Danmark - sekundærpublikation

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Andersen, Hans Jakob; Christensen, Jeanette

    2010-01-01

    In 2004 The Danish National Board of Health introduced a new guideline regarding prenatal screening. All pregnant women are now offered a Down's syndrome risk assessment. The new guideline has had an impact on the number of invasive early prenatal procedures. The number of procedures fell by 50......% from 2000 to 2006. 90% of the foetuses with Down's syndrome are detected prenatally. Denmark is one of the first countries in the world in which risk assessment for Down's syndrome has been successfully implemented at a national level....

  7. Speech impairment in Down syndrome: a review.

    Science.gov (United States)

    Kent, Ray D; Vorperian, Houri K

    2013-02-01

    This review summarizes research on disorders of speech production in Down syndrome (DS) for the purposes of informing clinical services and guiding future research. Review of the literature was based on searches using MEDLINE, Google Scholar, PsycINFO, and HighWire Press, as well as consideration of reference lists in retrieved documents (including online sources). Search terms emphasized functions related to voice, articulation, phonology, prosody, fluency, and intelligibility. The following conclusions pertain to four major areas of review: voice, speech sounds, fluency and prosody, and intelligibility. The first major area is voice. Although a number of studies have reported on vocal abnormalities in DS, major questions remain about the nature and frequency of the phonatory disorder. Results of perceptual and acoustic studies have been mixed, making it difficult to draw firm conclusions or even to identify sensitive measures for future study. The second major area is speech sounds. Articulatory and phonological studies show that speech patterns in DS are a combination of delayed development and errors not seen in typical development. Delayed (i.e., developmental) and disordered (i.e., nondevelopmental) patterns are evident by the age of about 3 years, although DS-related abnormalities possibly appear earlier, even in infant babbling. The third major area is fluency and prosody. Stuttering and/or cluttering occur in DS at rates of 10%-45%, compared with about 1% in the general population. Research also points to significant disturbances in prosody. The fourth major area is intelligibility. Studies consistently show marked limitations in this area, but only recently has the research gone beyond simple rating scales.

  8. Narrative Language Competence in Children and Adolescents with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Marie Moore Channell

    2015-10-01

    Full Text Available This study was designed to examine the narrative language abilities of children and adolescents with Down syndrome in comparison to same-age peers with fragile X syndrome and younger typically developing children matched by nonverbal cognitive ability levels. Participants produced narrative retells from a wordless picture book. Narratives were analyzed at the macrostructural (i.e., their internal episodic structure and the microstructural (i.e., rate of use of specific word categories levels. Mean length of utterance, a microstructural metric of syntactic complexity, was used as a control variable. Participants with Down syndrome produced fewer episodic elements in their narratives (i.e., their narratives were less fully realized than the typically developing participants, although mean length of utterance differences accounted for the macrostructural differences between participant groups. At the microstructural level, participants with Down syndrome displayed a lower rate of verb use than the groups with fragile X syndrome and typical development, even after accounting for mean length of utterance. These findings reflect both similarities and differences between individuals with Down syndrome or fragile X syndrome and contribute to our understanding of the language phenotype of Down syndrome. Implications for interventions to promote language development and academic achievement are discussed.

  9. Antígeno da hepatite B na síndrome de Down Hepatitis B antigen in Down's syndrome

    Directory of Open Access Journals (Sweden)

    Roberto de Almeida Moura

    1974-12-01

    Full Text Available Os autores demonstraram a ausência de HBAg no soro de 30 pacientes com síndrome de Down tratados em ambulatório (idades de 2 a 16 anos, bem como em 28 irmãos e em 19 de suas mães. Após discutir o antigo conceito que relacionava a síndrome de Down com HBAg, os autores confirmam a observação de que em pacientes com síndrome de Down, não hospitalizados, a incidência de HBAg é semelhante à da população geral.The authors have shown the absence of HBAg in the blood of 30 patients with Down's syndrome treated in ambulatory conditions (age from 2 to 16 years, as well as in 28 brothers or sisters and in 19 of their mothers. After discussing the old concept of relationship between Down's syndrome and HBAg, the authors confirmed the observation that in non-institucionalized patients with the Down's syndrome, the incidence of HBAg is similar to the whole population.

  10. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

    Science.gov (United States)

    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  11. Psychosis and Silent Celiac Disease in a Down Syndrome Adolescent: A Case Report

    Directory of Open Access Journals (Sweden)

    Amparo Morant

    2011-01-01

    Full Text Available Celiac disease is an autoimmune systemic disorder. It presents gastrointestinal and nongastrointestinal manifestations as well as associated conditions. We report a 16-year-old Down syndrome girl who presented psychosis symptomatology, and she was diagnosed as having silent celiac disease. Olanzapine treatment and gluten-free diet were satisfactory. It is necessary to consider celiac disease in Down syndrome patients with psychiatric symptoms, mainly psychotic symptomatology.

  12. Speech & Language Therapy for Children and Adolescents with Down Syndrome

    Science.gov (United States)

    ... Engagement Resources Local Support NDSS Events NDSS Scholarships Social Media Kayla’s ... Speech and language development can be challenging for many children with Down syndrome. Here is information that can ...

  13. Alterações do TSH em pacientes com síndrome de Down: uma interpretação nem sempre fácil Alterations of TSH in Down's syndrome patients: a hard interpretation

    Directory of Open Access Journals (Sweden)

    Renato M. Nisihara

    2006-10-01

    Full Text Available OBJETIVO: Determinar as concentrações de hormônio estimulante da tireóide (TSH e a presença de anticorpos antitireoperoxidase (anti-TPO em pacientes com síndrome de Down (SD atendidos no ambulatório do Hospital de Clínicas da Universidade Federal do Paraná. MÉTODOS: Foram incluídos no estudo 72 pacientes com SD, não aparentados e selecionados consecutivamente, com média de idade de 6,15 anos. Oitenta crianças sadias, pareadas com os pacientes, foram utilizadas como controles. Em todas as amostras foram determinadas as concentrações séricas de TSH e de anti-TPO, através do método de dosagem imunométrica. RESULTADOS: Trinta pacientes com SD (42,9% apresentaram alterações nas concentrações de TSH, sendo que 4,3% tinham valores menores que 0,5µUI/ml e 38,6%, valores superiores a 5µUI/ml (5,1 a 22 (média de 5,56 ± 4,18µUI/ml. Nos controles, a concentração média de TSH foi 2,76µUI/ml (± 1,14, evidenciando-se um aumento significativo nos níveis de TSH nos pacientes com SD (p OBJECTIVE: To evaluate the thyroid stimulating hormone (TSH levels and the presence of antithyroperoxidase antibody (anti-TPO in Down’s syndrome (DS patients from Hospital de Clínicas of Universidade Federal do Paraná (HC/UFPR. METHODS: Seventy-two DS patients, non-related and consecutively selected (mean age 6.15 were included in the study. Eighty matched healthy children were used as controls. The TSH measurement and the anti-TPO were determined by immunometric assay in all samples. RESULTS: Thirty patients with DS (42.9% presented abnormal levels of TSH; 4.3% showed values below 0.5µIU/ml and 38.6% presented values higher than 5µIU/ml (range 5.1-22; mean 5.56 ± 4.18µIU/ml. The mean concentration of TSH in the controls was 2.76 ± 1.14µIU/ml, indicating a significant increase in TSH levels in the DS patients (p < 0.001. Similarly, a significant difference was observed in the anti-TPO positivity in the patients’ group (15.4% when

  14. Social - pragmatic skills of children with Down syndrome

    OpenAIRE

    Svetec, Anamarie

    2016-01-01

    The theoretical grounds have covered discoveries, learned through different literature, about characteristics of communication, speech and language of children with Down syndrome. It describes causes in children with Down syndrome that have an impact on the slower development of these elements. We are clarifying the concepts of pragmatics and socio-pragmatic skill that are in Slovenian-speaking territory much less explained and described. In the following section we describe the characteristi...

  15. Examining Courtesy Stigma in Siblings of People with Down Syndrome

    OpenAIRE

    Fulk, Kelly

    2014-01-01

    The purpose of this study was to determine whether siblings of people with Down syndrome face courtesy stigma, a stigma acquired as a result of an association with a person from a stigmatized group. The central hypothesis was that the majority of people who have a sibling with Down syndrome face courtesy stigma during both adolescence and adulthood. The data supports this hypothesis, showing that 76% of respondents reported courtesy stigma as adolescents and 62% reported courtesy stigma as ad...

  16. Down syndrome: a risk factor for mycotic aneurysm?

    LENUS (Irish Health Repository)

    Naughton, Peter A

    2011-03-29

    Down syndrome, or trisomy 21, has a characteristic constellation of clinical findings, including various congenital heart defects. We report a case of an adult male with Down syndrome who presented with a 3-week history of lower limb pain and swelling, attributed to cellulitis. Clinical and angiographic evaluation identified a below-knee mycotic pseudoaneurysm secondary to infective endocarditis. Surgical aneurysmal repair and revascularization were performed. Various management options are outlined in this report.

  17. Transient abnormal myelopoesis in an infant with Down syndrome

    African Journals Online (AJOL)

    2010-01-13

    Jan 13, 2010 ... syndrome and trisomy 21 mosaicism (1). The majorities of infants with TAM are asymptomatic and picked up incidentally on routine testing. Most cases of TAM resolve over the first few months of life, but 13Á33% may go on to develop AML within the first four years of life. Neonates with Down syndrome are ...

  18. Plasma N-Glycome Signature of Down Syndrome

    NARCIS (Netherlands)

    Borelli, V.; Vanhooren, V.; Lonardi, E.; Reiding, K.R.; Capri, M.; Libert, C.; Garagnani, P.; Salvioli, S.; Franceschi, C.; Wuhrer, M.

    2015-01-01

    In recent years, plasma N-glycans have emerged as biomarkers for health and disease. Here, we studied N-glycomic changes in Down Syndrome (DS). Because of the progeroid phenotype of DS, we focused on the dissection of syndrome- and aging-associated glycomic changes, as well as the interaction

  19. Prenatal treatment prevents learning deficit in Down syndrome model.

    Science.gov (United States)

    Incerti, Maddalena; Horowitz, Kari; Roberson, Robin; Abebe, Daniel; Toso, Laura; Caballero, Madeline; Spong, Catherine Y

    2012-01-01

    Down syndrome is the most common genetic cause of mental retardation. Active fragments of neurotrophic factors release by astrocyte under the stimulation of vasoactive intestinal peptide, NAPVSIPQ (NAP) and SALLRSIPA (SAL) respectively, have shown therapeutic potential for developmental delay and learning deficits. Previous work demonstrated that NAP+SAL prevent developmental delay and glial deficit in Ts65Dn that is a well-characterized mouse model for Down syndrome. The objective of this study is to evaluate if prenatal treatment with these peptides prevents the learning deficit in the Ts65Dn mice. Pregnant Ts65Dn female and control pregnant females were randomly treated (intraperitoneal injection) on pregnancy days 8 through 12 with saline (placebo) or peptides (NAP 20 µg +SAL 20 µg) daily. Learning was assessed in the offspring (8-10 months) using the Morris Watermaze, which measures the latency to find the hidden platform (decrease in latency denotes learning). The investigators were blinded to the prenatal treatment and genotype. Pups were genotyped as trisomic (Down syndrome) or euploid (control) after completion of all tests. two-way ANOVA followed by Neuman-Keuls test for multiple comparisons, PDown syndrome-placebo; n = 11) did not demonstrate learning over the five day period. DS mice that were prenatally exposed to peptides (Down syndrome-peptides; n = 10) learned significantly better than Down syndrome-placebo (ptreatment with the neuroprotective peptides (NAP+SAL) prevented learning deficits in a Down syndrome model. These findings highlight a possibility for the prevention of sequelae in Down syndrome and suggest a potential pregnancy intervention that may improve outcome.

  20. MRI and CT findings of adult Down's syndrome

    International Nuclear Information System (INIS)

    Murata, Tetsuhito; Koshino, Yoshifumi; Omori, Masao

    1993-01-01

    Cranial CT and MRI were performed in 29 adult patients with Down's syndrome aged from 20 to 46 years to examine early aging. Morphological changes with aging, such as brain atrophy and ventricular enlargement, were generally sparse; however, calculi of the basal nucleus and lesions of deep-seated white matter were significantly increased with aging. The pallidum and putamen were shown as low intensity signals on T2-weighted images in many of patients in their fourties, suggesting their involvement in the occurrence of dyskinesia and parkinsonism symptoms that are likely to occur in the elderly. Localized changes, as shown on CT and MRI, may reflect abnormally early occurrence of aging, which precedes morphological changes such as brain atrophy. (N.K.)

  1. Severe Acrosteolisis In gouty arthritis and Down syndrome

    International Nuclear Information System (INIS)

    Toro Gutierrez, Carlos Enrique; Medina, John Jairo; Coral Alvarado, Paola; Mejia Vallejo, Jimi; Rondon, Federico; Restrepo, Jose Felix; Iglesias Gamarra Antonio

    2007-01-01

    The association between gout and Down Syndrome (DS) is very in frequent, in spite that both diseases are common in general population. Surprisingly, hyperuricemia is a common metabolic impairment in DS. In this report we describe a 35-years old man with DS presenting with arthritis in the fifth and then in the first toe of his Ieft foot. Severe osteolysis of the first and fifth toe was seen by radiography. Because of this, neoplasm was suspected but later ruled out by oncologic orthopedist. After we found hyperuricemia a diagnosis of gout was made, and then confirmed by examination of a sample obtained from a subcutaneous node. This report is one of the few cases previously published. In addition development of gout in this patient has unusual features like its onset in the fifth toe and its severity at presentation. In spite that hyperuricemia is common in DS, in not clear why these patients mostly do not develop gout

  2. Aging With Down Syndrome: The Dual Diagnosis: Alzheimer's Disease and Down Syndrome.

    Science.gov (United States)

    Cipriani, Gabriele; Danti, Sabrina; Carlesi, Cecilia; Di Fiorino, Mario

    2018-06-01

    People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with aging, including dementia. To explore the phenomenon of dementia in DS. Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published until 2017. Search terms included Alzheimer's disease, cognitive impairment, dementia, DS, and trisomy 21. Publications found through this indexed search were reviewed for further references. Virtually, all subject aged 35 to 40 show key neuropathologic changes characteristic of Alzheimer's disease, but only a part of them show clinical signs of dementia, usually around the age of 50 years. Early signs of dementia in people with DS may be different from those experienced by the general population. Failure to recognize this can delay diagnosis and subsequent interventions.

  3. Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

    Directory of Open Access Journals (Sweden)

    Piotr Laudanski

    2014-01-01

    Full Text Available Objective. Chemokines exert different inflammatory responses which can potentially be related to certain fetal chromosomal abnormalities. The aim of the study was to determine the concentration of selected chemokines in plasma and amniotic fluid of women with fetal Down syndrome. Method. Out of 171 amniocentesis, we had 7 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control, we chose 14 women without confirmed chromosomal aberration. To assess the concentration of chemokines in the blood plasma and amniotic fluid, we used a protein macroarray, which allows the simultaneous determination of 40 chemokines per sample. Results. We showed significant decrease in the concentration of 4 chemokines, HCC-4, IL-28A, IL-31, and MCP-2, and increase in the concentration of CXCL7 (NAP-2 in plasma of women with fetal Down syndrome. Furthermore, we showed decrease in concentration of 3 chemokines, ITAC, MCP-3, MIF, and increase in concentration of 4 chemokines, IP-10, MPIF-1, CXCL7, and 6Ckine, in amniotic fluid of women with fetal Down syndrome. Conclusion. On the basis of our findings, our hypothesis is that the chemokines may play role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on larger group of patients.

  4. Is Apolipoprotein E4 an Important Risk Factor for Dementia in Persons with Down Syndrome?

    Science.gov (United States)

    Rohn, Troy T; McCarty, Katie L; Love, Julia E; Head, Elizabeth

    2014-12-08

    Down syndrome is one of the most common genetic causes of intellectual disability and is characterized by a number of behavioral as well as cognitive symptoms. Triplication of all or part of human chromosome 21 has been considered as the main cause of Down syndrome. Due to the location of the amyloid precursor protein on chromosome 21, many of the neuropathological features of early-onset Alzheimer's disease including senile plaques and neurofibrillary tangles are also present in Down syndrome patients who are either demented or nondemented. Significant advances in medical treatment have increased longevity in people with Down syndrome resulting in an increased population that may be subjected to many of the same risk factors as those with Alzheimer's disease. It is well established that harboring one or both apolipoprotein E4 alleles greatly increases the risk for Alzheimer's disease. However, whether apolipoprotein E4 contributes to an earlier onset of dementia or increased mortality in Down syndrome patients is still a matter of debate. The purpose of this mini review is to provide an updated assessment on apolipoprotein E4 status and risk potential of developing dementia and mortality associated with Down syndrome.

  5. A morphometric CT study of Down's syndrome showing small posterior fossa and calcification of basal ganglia

    International Nuclear Information System (INIS)

    Ieshima, A.; Yoshino, K.; Takashima, S.; Takeshita, K.; Kisa, T.

    1984-01-01

    We report characteristic and morphometric changes of cranial computed tomography (CT) with increasing age in 56 patients with Down's syndrome aged from 0 month to 37 years. Patients were compared with 142 normal controls aged 0 to 59 years. Width of ventricles, Sylvian fissures, posterior fossa, pons and cisterna magna were measured on CT. The incidences of the cavum septi pellucidi, cavum vergae and cavum veli interpositi and high density in the basal ganglia were examined. There was high incidence (10.7%) of bilateral calcification of basal ganglia in Down's syndrome, although that of pineal body and choroid plexus calcification was similar in Down's syndrome and controls. Basal ganglia calcification is more frequently seen in young Down's syndrome and may be related to the premature aging characteristic of Down's syndrome. The CT in Down's syndrome showed relatively small posterior fossa, small cerebellum, small brain stem and relatively large Sylvian fissures in those under one year of age. There was a high frequency of midline cava and large cisterna magna. There were no significant atrophic changes on CT except after the fifth decade comparing with controls. (orig.)

  6. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  7. Binaural masking release in children with Down syndrome.

    Science.gov (United States)

    Porter, Heather L; Grantham, D Wesley; Ashmead, Daniel H; Tharpe, Anne Marie

    2014-01-01

    Binaural hearing results in a number of listening advantages relative to monaural hearing, including enhanced hearing sensitivity and better speech understanding in adverse listening conditions. These advantages are facilitated in part by the ability to detect and use interaural cues within the central auditory system. Binaural hearing for children with Down syndrome could be impacted by multiple factors including, structural anomalies within the peripheral and central auditory system, alterations in synaptic communication, and chronic otitis media with effusion. However, binaural hearing capabilities have not been investigated in these children. This study tested the hypothesis that children with Down syndrome experience less binaural benefit than typically developing peers. Participants included children with Down syndrome aged 6 to 16 years (n = 11), typically developing children aged 3 to 12 years (n = 46), adults with Down syndrome (n = 3), and adults with no known neurological delays (n = 6). Inclusionary criteria included normal to near-normal hearing sensitivity. Two tasks were used to assess binaural ability. Masking level difference (MLD) was calculated by comparing threshold for a 500-Hz pure-tone signal in 300-Hz wide Gaussian noise for N0S0 and N0Sπ signal configurations. Binaural intelligibility level difference was calculated using simulated free-field conditions. Speech recognition threshold was measured for closed-set spondees presented from 0-degree azimuth in speech-shaped noise presented from 0-, 45- and 90-degree azimuth, respectively. The developmental ability of children with Down syndrome was estimated and information regarding history of otitis media was obtained for all child participants via parent survey. Individuals with Down syndrome had higher masked thresholds for pure-tone and speech stimuli than typically developing individuals. Children with Down syndrome had significantly smaller MLDs than typically developing children. Adults

  8. Dynamics in prevalence of Down syndrome in children with congenital heart disease.

    Science.gov (United States)

    Pfitzer, Constanze; Helm, Paul C; Rosenthal, Lisa-Maria; Berger, Felix; Bauer, Ulrike M M; Schmitt, Katharina Rl

    2018-01-01

    We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014. Regarding CHD groups, complex and simple lesions have become more equal since 2005. The number of simple lesions with shunt has a peak prevalence in the period of 2010-2014. Atrioventricular septal defect was the most common CHD phenotype, but temporal changes were found within the group of CHD phenotypes over the observation period. Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: • Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. • New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: • This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. • Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndrome

  9. Myoclonic epilepsy in Down syndrome and Alzheimer disease.

    Science.gov (United States)

    Aller-Alvarez, J S; Menéndez-González, M; Ribacoba-Montero, R; Salvado, M; Vega, V; Suárez-Moro, R; Sueiras, M; Toledo, M; Salas-Puig, J; Álvarez-Sabin, J

    2017-03-01

    Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS). This entity presents electroencephalogram features as generalized polyspike-wave discharges. We present a series of 11 patients with the diagnosis of DS or AD who developed myoclonic seizures or generalized tonic-clonic seizures. In all cases, clinical and neuroimaging studies and polygraph EEG monitoring was performed. In all cases, cognitive impairment progressed quickly after the onset of epilepsy causing an increase in the degree of dependence. The most common finding in the EEG was a slowing of brain activity with theta and delta rhythms, plus intercritical generalized polyspike-waves were objectified in eight patients. In neuroimaging studies was found cerebral cortical atrophy. The most effective drug in this series was the levetiracetam. The association of generalized epilepsy with elderly DS represents an epiphenomenon in evolution which is associated with a progressive deterioration of cognitive and motor functions. This epilepsy has some electroclinical characteristics and behaves as progressive myoclonic epilepsy, which is probably related to the structural changes that characterize the evolutionary similarity of DS with AD. Recognition of this syndrome is important, since it has prognostic implications and requires proper treatment. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

    Science.gov (United States)

    Couser, Natario L; Marchuk, Daniel S; Smith, Laurie D; Arreola, Alexandra; Kaiser-Rogers, Kathleen A; Muenzer, Joseph; Pandya, Arti; Gucsavas-Calikoglu, Muge; Powell, Cynthia M

    2017-10-01

    Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients. This mutation has previously been identified in four individuals of Italian and Caucasian descent. The older sibling with concomitant disease has a more severe phenotype than what is typically described in patients with either SUCLA2-related mitochondrial depletion syndrome or Down syndrome alone. The younger sibling, who has a normal female chromosome complement, is significantly less affected compared to her brother. While the clinical and molecular findings have been reported in about 50 patients affected with a deficiency of succinate-CoA ligase caused by pathogenic variants in SUCLA2, this report describes the first known individual affected with both a mitochondrial depletion syndrome and trisomy 21. © 2017 Wiley Periodicals, Inc.

  11. Inner ear anomalies seen on CT images in people with Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M. [The Johns Hopkins Medical Institutions, The Russell H. Morgan Department of Radiology and Radiological Sciences, Baltimore, MD (United States); Tunkel, David E. [The Johns Hopkins Medical Institutions, Department of Otolaryngology-Head and Neck Surgery, Baltimore, MD (United States); Carone, Marco [University of California, Division of Biostatistics, School of Public Health, Berkeley, CA (United States)

    2012-12-15

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  12. Inner ear anomalies seen on CT images in people with Down syndrome

    International Nuclear Information System (INIS)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M.; Tunkel, David E.; Carone, Marco

    2012-01-01

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  13. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    Science.gov (United States)

    Smith, Desmond J.; Rubin, Edward M.

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  14. Divorce in families of children with Down Syndrome or Rett Syndrome.

    Science.gov (United States)

    Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

    2015-05-01

    This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

  15. Normal formation and repair of γ-radiation-induced single and double strand DNA breaks in Down syndrome fibroblasts

    International Nuclear Information System (INIS)

    Steiner, M.E.; Woods, W.G.

    1982-01-01

    Fibroblasts from patients with Down syndrome (Trisomy 21) were examined for repair capability of γ-radiation-induced single strand and double strand DNA breaks. Formation and repair of DNA breaks were determined by DNA alkaline and non-denaturing elution techniques. Down syndrome fibroblasts were found to repair single strand and double strand breaks as well as fibroblasts from normal controls. (orig.)

  16. Congenital Heart Disease in Children with Down syndrome in Kermanshah, West of Iran during 2002 - 2016

    Directory of Open Access Journals (Sweden)

    Zahra Jalili

    2017-11-01

    Full Text Available Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah, Iran from 2002 to 2016. Materials and Methods In this descriptive study, the medical records of all patients with Down syndrome admitted to two university hospitals namely Imam Ali and Imam Reza, Kermanshah city located in Western part of Iran in the study period were reviewed. All patients had received Echocardiography two-dimensional (2D. The required data including cardiac anomaly type, consanguinity of parents, maternal age, surgical interventions, and survival were collected into a checklist. Results:  During the study period, 166 patients with Down syndrome had received diagnostic and therapeutic services in the studied hospitals. There were 70 males (42.2% and 96 females (57.8%. Familial consanguinity was documented in 95 patients (57.2%. Mean ± standard deviation (SD maternal age at delivery was 26.33 (±4.7 years (range, 15 to 45 years. Of 166 studied patients, 123 (74.1% had cardiac anomaly. Ventricular septal defect (VSD was the most prevalent single defect seen in 32 (26% patients, followed by atrial septal defect (ASD detected in in 22 (17.8% patients. Seventy patients (42.1% required surgical interventions. A total of 74 patients experienced relative improvement of the symptoms. Also, seven patients (10.2% died including five females and two males. Conclusion: The frequency of cardiac anomalies in the studied population of Down syndrome patients was higher than former reported figures. The pattern of the anomalies is compatible with some former reports, but contradicts other reports.

  17. Effects of hippotherapy on posture in individuals with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Paula Espindula

    Full Text Available Abstract Introduction: Individuals with Down syndrome (DS have alterations that affect the musculoskeletal system, causing abnormal patterns, and alter the morphological anatomical and mechanical axes that provide intrinsic stability to the skeleton, and can trigger misalignments and orthopedic disorders in adulthood. Objective: The objective of student to evaluate posture and postural alignment before and after the hippotherapyin individuals with DS. Methods: Posture of five individuals with DS was evaluated by the software SAPO before and after 27 sessions the hippotherapy. Data were subjected to qualitative descriptive analysis using cluster and statistical analysis with the aid of the software Sigma Stat 2.0, considering differences as statistically significant at p-value < 5%. Results: Improvements were achieved for the alignment of shoulder, head, hip, and lower limbs, in addition to decrease in kyphosis and head protrusion. Conclusion: Patients with DS demonstrated satisfactory changes in motor behavior reflected in improved static posture after treatment with hippotherapy.

  18. Cytogenetic evaluation of chromosomal disorders in Down Syndrome

    International Nuclear Information System (INIS)

    Shafik, H.M.

    1987-01-01

    Down Syndrome (DS) patients are at high risk to develop leukemia. They are also highly sensitive to the induction of chromosomal aberrations when their GO lymphocytes are irradiated in vitro. The objective of this study was to further investigate the differential radiosensitivity of DS lymphocytes at the different stages of the cell cycle, as damage to proliferating cells is more relevant to health problems than damage to non-dividing cells. In addition, the proliferation kinetics and stage of differentiation of circulating DS lymphocytes was studied in an attempt to understand the mechanism for the enhanced chromosomal radiosensitivity. Moreover, the x-ray induced specific chromosomal breakpoints were identified and correlated with the locations of oncogene and fragile sites in order to investigate cytogenetically the early stages of leukemogenesis

  19. Dissociation of Down syndrome and Alzheimer's disease effects with imaging.

    Science.gov (United States)

    Matthews, Dawn C; Lukic, Ana S; Andrews, Randolph D; Marendic, Boris; Brewer, James; Rissman, Robert A; Mosconi, Lisa; Strother, Stephen C; Wernick, Miles N; Mobley, William C; Ness, Seth; Schmidt, Mark E; Rafii, Michael S

    2016-06-01

    Down Syndrome (DS) adults experience accumulation of Alzheimer's disease (AD)-like amyloid plaques and tangles and a high incidence of dementia and could provide an enriched population to study AD-targeted treatments. However, to evaluate effects of therapeutic intervention, it is necessary to dissociate the contributions of DS and AD from overall phenotype. Imaging biomarkers offer the potential to characterize and stratify patients who will worsen clinically but have yielded mixed findings in DS subjects. We evaluated 18F fluorodeoxyglucose positron emission tomography (PET), florbetapir PET, and structural magnetic resonance (sMR) image data from 12 nondemented DS adults using advanced multivariate machine learning methods. Our results showed distinctive patterns of glucose metabolism and brain volume enabling dissociation of DS and AD effects. AD-like pattern expression corresponded to amyloid burden and clinical measures. These findings lay groundwork to enable AD clinical trials with characterization and disease-specific tracking of DS adults.

  20. Incidence and outcome of renal anomalies in children with down syndrome

    Directory of Open Access Journals (Sweden)

    Osama Y Safdar

    2018-01-01

    Full Text Available Background Down syndrome is one of the most common occurring chromosomal disorders, which involves multiple systems. Renal and urinary tract anomalies have been reported to occur at increased frequency among this population. Aims This study aims to estimate the prevalence of renal anomalies in Down syndrome patients, as well as to evaluate their outcome. Methods A retrospective study was conducted in the tertiary hospital, KAUH, from the period of August to October 2016. Files and medical records of 261 patients diagnosed with Down syndrome were reviewed and retrieved from the years 2005–2016. Results Out of the 241 patients, 113 (46.9 per cent were screened by ultrasound imaging. Renal abnormalities were detected in 51 (21.2 per cent patients. Of whom 20 (39.2 per cent were females and 31 (60.8 per cent males. Abnormalities detected on imaging consisted of: hydronephrosis, vesicoureteral reflux, obstruction, malpositioned kidney, renovascular anomalies and others. The outcomes of the patients with renal involvement were as following: five patients (9.8 per cent developed chronic kidney disease, eight (15.7 per cent died due to different causes: (DIC, multiple organ failure, Respiratory arrest, sepsis, and unspecified, and 38 (74.5 per cent showed no progression of the renal disease. Conclusion The prevalence of renal abnormalities in Down syndrome was found to be high so early screening for Down syndrome patients is recommended to help diagnose them earlier. Further studies are recommended to follow up Down syndrome patients with renal abnormalities.

  1. Providing information about prenatal screening for Down syndrome

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Draborg, Eva; Pedersen, Claus Duedal

    2015-01-01

    BACKGROUND: In recent decades there have been advances in the options for prenatal screening. Screening programmes for Down syndrome are well established in many countries. It is important that pregnant women are well informed about the benefits and risks of screening. A variety of interventions...... screening for Down syndrome. DESIGN: SYSTEMATIC REVIEW: METHODS: A systematic search was performed using the PUBMED and EMBASE databases. The search terms included MeSH terms and free text and were combined by Boolean terms (AND, OR) with no restriction on language or time. MAIN OUTCOME MEASURES: Main...... information about prenatal screening for Down syndrome can improve their ability to make an informed choice. This article is protected by copyright. All rights reserved....

  2. A review of Down's syndrome studies and ionizing radiation

    International Nuclear Information System (INIS)

    Rose, K.S.B.

    1994-01-01

    This review collates results from 3 high dose (> 0.1 Gy) and 23 low dose epidemiological studies of parental radiation exposure and Down's syndrome incidence. A pattern of consistent results appears in 13 studies of irradiation received by women for diagnostic purposes. The pattern is an increase in Down's syndrome, the increase being approximately equivalent to an ovarian doubling dose of 20 mGy. The value is definitely not compatible with results from the high dose studies. Results from the other 10 low dose studies were used to test this value but most proved to be unsuitable for a variety of reasons. However, no associations between levels of high natural background and Down's syndrome have been observed in either New England or Aberdeen, which are areas in developed countries where reliable statistics ar collected. (author)

  3. Fine motor skills in children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Memišević Haris

    2014-01-01

    Full Text Available Fine motor skills are very important for children's overall functioning. Their development is necessary for many everyday activities such as dressing, feeding, holding objects, etc. Moreover, fine motor skills are also correlated to the children's academic success at school. Recent research suggests a close relationship between motor skills and intelligence. Given the relative paucity of literature on fine motor skills in different etiological groups of children with intellectual disability (ID, we examined these skills in children with Down syndrome. The sample for this study comprised 90 children with ID, aged 7-15, who were divided in three etiological groups: 1. Down syndrome, 2. Organic/other genetic cause of ID and 3. Unknown etiology of ID. Fine motor skills were assessed by the Purdue Pegboard Test. The results of this study indicate that children with Down syndrome did not differ statistically significantly from the other two etiological groups. On the other hand, children with unknown etiology of ID performed statistically better than children with organic/other genetic cause of ID. An additional goal was to examine fine motor skills in children with Down syndrome in relation to the child's sex. There were no statistically significant differences in fine motor skills between girls and boys with Down syndrome. It is important to provide children with Down syndrome, and all other children with ID, with early (rehabilitation programs for the improvement of their fine motor skills. Special educators and rehabilitators should play a crucial role in the assessment and in creating programs for the development of these skills.

  4. The effect of mitotic inhibitors on DNA strand size and radiation-associated break repair in Down syndrome fibroblasts

    International Nuclear Information System (INIS)

    Woods, W.G.; Steiner, M.E.; Kalvonjian, S.L.

    1985-01-01

    The effect of mitotic inhibitors on formation and repair of DNA breaks was studied in cultured fibroblasts from patients with Down syndrome in order to investigate the hypothesis that the karyotyping procedure itself may play a role in the increased chromosome breakage seen in these cells after gamma radiation exposure. Using the nondenaturing elution and alkaline elution techniques to examine fibroblasts from Down syndrome patients and from controls, no specific abnormalities in Down syndrome cells could be detected after exposure to mitotic inhibitors, including rate and extent of elution of DNA from filters as well as repair of radiation-induced DNA breaks. In both normal and Down syndrome cell strains, however, exposure to mitotic inhibitors was associated with a decrease in cellular DNA strand size, suggesting the presence of drug-induced DNA strand breaks. The mechanism of increased chromosome sensitivity of Down syndrome cells to gamma radiation remains unknown. (orig.)

  5. Combined first- and second-trimester screening for Down syndrome

    DEFF Research Database (Denmark)

    Rode, Line; Wøjdemann, Karen R; Shalmi, Anne-Cathrine

    2003-01-01

    and their correlations, derived from our normal material and Down syndrome cases from the literature. RESULTS: Using a fixed screen-positive rate (SPR) of 5%, the first-trimester combined test [nuchal translucency (NT), PAPP-A and free beta-hCG] yielded a detection rate (DR) of 76%, and the integrated test (NT, PAPP......%. CONCLUSION: These results suggest that proMBP may be an important new marker in Down syndrome screening and, in particular, a good substitute for inhibin A....

  6. Down Syndrome and the aging process: a systematic review

    Directory of Open Access Journals (Sweden)

    Bruno Sousa Lopes

    2015-05-01

    Full Text Available The study aimed to identify and update the knowledge about older people with Down Syndrome (DS, and to understand the peculiarities of the aging process in this population. Bibliographical research conducted by Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior and High Wire portal. Inclusion criteria were articles published in the last ten years with the words “Down Syndrome" and “Elderly”.  

  7. [Prevalence of neurological disorders among children with Down syndrome].

    Science.gov (United States)

    Gaete, Beatriz; Mellado, Cecilia; Hernández, Marta

    2012-02-01

    Neurological disturbances are common problems in children with Down Syndrome (DS). To determine the prevalence of neurological disorders affecting children with Down Syndrome. Review of medical records of 253 children aged from 1 day to 23 years affected with DS, attended at a public hospital and a University clinic. The overall prevalence of neurological disorders was 38.7%. The most common problems were ocular motor disorders in 26% of cases and epilepsy in 12%. Neurological disorders are more common in children with DS than in the general population. Motor ocular disorders and epilepsy are the predominant disturbances detected.

  8. First Trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

  9. First trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

  10. Down Syndrome: General Information. Fact Sheet Number 4 = El Sindrome de Down: Informacion General. Fact Sheet Number 15.

    Science.gov (United States)

    Interstate Research Associates, McLean, VA.

    This fact sheet on Down Syndrome is offered in both English and Spanish. First it provides a definition and description of this syndrome, noting its etiology in a chromosomal abnormality. Incidence figures are then given. Typical characteristics of people with Down Syndrome are listed. Commonly associated health-related problems are noted,…

  11. Quantitative Electroencephalography as a Diagnostic Tool for Alzheimer's Dementia in Adults with Down Syndrome

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Sabers, Anne; Kjaer, Troels W

    2015-01-01

    be used as a diagnostic marker for dementia. The aim of this study was to examine the value of qEEG in the diagnostic evaluation of dementia in patients with Down syndrome (DS). METHOD: The study included 21 patients with DS and mild-to-moderate dementia due to Alzheimer's disease (DS-AD) and 16 age...

  12. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    Science.gov (United States)

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

  13. The salivary proteome profile in patients affected by SAPHO syndrome characterized by a top-down RP-HPLC-ESI-MS platform.

    Science.gov (United States)

    Sanna, Monica; Firinu, Davide; Manconi, Paolo Emilio; Pisanu, Maria; Murgia, Giuseppe; Piras, Valentina; Castagnola, Massimo; Messana, Irene; del Giacco, Stefano Renato; Cabras, Tiziana

    2015-06-01

    SAPHO syndrome is a rare and often unrecognized disease with prominent inflammatory cutaneous and articular symptoms characterized by musculoskeletal manifestations (synovitis, hyperostosis, osteomyelitis) associated with dermatological conditions (severe acne and pustulosis). The acidic soluble fraction of whole saliva from 10 adult women affected by SAPHO syndrome and from a group of 28 healthy women was analysed by RP-HPLC-ESI-MS with the aim of discovering salivary biomarkers of the disorder. The levels of the oral proteins and peptides were correlated with clinical data. The following proteins showed a significant decreased concentration in saliva of SAPHO subjects with respect to controls: cystatin S1 and SN, histatins, the major acidic PRPs, P-C and P-B peptides. The cystatin SN abundance lowered according to the disease duration and histatins showed positive correlations with the C reactive protein. Statistical analysis performed excluding one patient with a different pattern of salivary proteins/peptides highlighted a positive relationship between cystatin S1, histatins 3, histatin 5, and the neutrophil count. Moreover, histatin 3 correlated positively with the total white cell count and negatively with the erythrocyte sedimentation rate. Levels and frequency of S100A12 protein showed a trend to increase in SAPHO patients. The high expression of this pro-inflammatory protein is probably related to the inflammatory response and to the altered neutrophil responses to functional stimuli that characterize SAPHO syndrome suggesting a possible application as a salivary biomarker.

  14. Radiosensitive Down syndrome lymphoblastoid lines have normal ionizing-radiation-induced inhibition of DNA synthesis

    International Nuclear Information System (INIS)

    Ganges, M.B.; Robbins, J.H.; Jiang, H.; Hauser, C.; Tarone, R.E.

    1988-01-01

    The extent of X-ray-induced inhibition of DNA synthesis was determined in radiosensitive lymphoblastoid lines from 3 patients with Down syndrome and 3 patients with ataxia telangiectasia (AT). Compared to 6 normal control lines, the 3 AT lines were abnormally resistant to X-ray-induced inhibition of DNA synthesis, while the 3 Down syndrome lines had normal inhibition. These results demonstrate that radiosensitive human cells can have normal X-ray-induced inhibition of DNA synthesis and provide new evidence for the dissociation of radioresistant DNA synthesis. (author). 27 refs.; 1 fig.; 1 tab

  15. Reexpression of a developmentally regulated antigen in Down syndrome and Alzheimer disease

    International Nuclear Information System (INIS)

    Wolozin, B.; Scicutella, A.; Davies, P.

    1988-01-01

    ALZ-50 is a monoclonal antibody that recognizes a protein of apparent molecular mass 68 kilodaltons (A68). The protein is present in the brains of patients with Alzheimer disease but is not detectable in normal adult brain tissue. The authors report that ALZ-50-reactive neurons are found in normal fetal and neonatal human brain and in brain tissue from neonatal individuals with Down syndrome. Reactive neurons decrease sharply in number after age 2 and reappear in older individuals with Down syndrome and in patients with Alzheimer disease

  16. Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports

    Directory of Open Access Journals (Sweden)

    Akahoshi K

    2012-07-01

    Full Text Available Keiko Akahoshi,1 Hiroshi Matsuda,2 Masuko Funahashi,1 Tomoyuki Hanaoka,3 Yasuyuki Suzuki11Department of Pediatrics, Tokyo Children’s Rehabilitation Hospital, Tokyo; 2Department of Nuclear Medicine, Saitama Medical University, International Medical Center, Saitama; 3Department of Pediatrics, Bihoro Rehabilitation Hospital, Hokkaido, JapanBackground: The aim of this study was to evaluate acute neuropsychiatric disorders in adolescents and young adults with Down syndrome. We report 13 Japanese adolescents or young adults with Down syndrome who developed acute neuropsychiatric disorders including withdrawal, depression, obsessive-compulsive behaviors, and occasional delusions or hallucinations.Methods: The following information was collected from each patient: age at onset of acute neuropsychiatric disorder, complications, signs and symptoms, personality traits before the onset of the acute neuropsychiatric disorder, prescribed medications with their respective doses and the response to treatment, and senile changes observed on magnetic resonance imaging or computed tomography.Results: The mean age at onset of these disorders was 21.2 years. Brain imaging showed almost senile changes; patients responded well to low-dose psychotropic therapy. Patients had an onset at a young age and presented with treatable conditions, although the average age of the onset of Alzheimer’s disease is generally over 40 years of age in patients with Down syndrome.Conclusion: These findings suggest that the pathology of acute neuropsychiatric disorder in patients with Down syndrome may be related to presenile changes; however, these disorders present features and a clinical course that is different from those presented in typical Alzheimer’s disease with Down syndrome.Keywords: Down syndrome, acute neuropsychiatric disorders, Alzheimer’s disease

  17. Hyperthyroidism in a population with Down syndrome (DS).

    Science.gov (United States)

    Goday-Arno, Alberto; Cerda-Esteva, Mariaina; Flores-Le-Roux, Juana Antonia; Chillaron-Jordan, Juan José; Corretger, Josep Maria; Cano-Pérez, Juan Francisco

    2009-07-01

    Thyroid disorders are frequent in patients with Down syndrome (DS). It is well-known that the prevalence of hypothyroidism is high but data on hyperthyroidism are scarce. To assess the prevalence, aetiology, clinical characteristics, evolution and treatment of hyperthyroidism in a population with DS attending a specialized medical centre. Data were gathered by systematic review of 1832 medical records from the Catalan DS Foundation, in Spain, registered between January 1991 and February 2006. Patients with the diagnosis of hyperthyroidism were identified and data on clinical features, physical examination, laboratory and imaging tests, treatment and evolution were collected. Twelve patients with hyperthyroidism were recorded (6.5 cases/1000 patients with DS). There were 5 males and 7 females, with a mean age at diagnosis of 16.8 years. The most common presenting symptoms were decreased heat tolerance, sweating, increased irritability and weight loss. All patients had diffuse goitre at physical examination and two patients presented with exophthalmia. Clinical diagnosis was confirmed biochemically. Thyroid-stimulating immunoglobulin levels were raised (mean 128.1 U/l) and imaging tests confirmed the diagnosis of Graves' disease in all cases. Patients started treatment with carbimazole at diagnosis and after a mean period of 40 months without clinical remission, they required definitive therapy with radioactive iodine. Subjects developed hypothyroidism after radio-iodine therapy and replacement therapy with levothyroxine was necessary. Hyperthyroidism is more prevalent in patients with DS than in the general population and has no gender predominance. It is caused mainly by Graves' disease. Anti-thyroid drugs were not effective in achieving remission and radioactive iodine as a definitive treatment was required in all cases.

  18. The Survey of Serum Trace Element Profiles in Down's Syndrome

    Directory of Open Access Journals (Sweden)

    Leila Farzin

    2014-06-01

    Full Text Available Background: Immunological, endocrinological, haematological and neurological abnormalities are relatively common in people with Down's syndrome (DS. Zinc (Zn, copper (Cu, selenium (Se and manganese (Mn are elements that act in the maintenance of normal function of these systems. The present study aimed to evaluate the concentration of these elements on DS symptoms. Materials and Methods: This case-control study was done from April to October 2011. Serum trace elements including Zn, Cu, Se and Mn were determined by using atomic absorption spectrometry (AAS in 56 patients with DS and 60 healthy subjects. Results: There was no significant difference in the values of Cu and Se between two groups (p>0.05. While, Zn and Mn levels were found to be significantly decreased in patients with DS compared to the control group (p<0.01 and p<0.001, respectively. Conclusion: Results of this study indicate zinc and manganese deficiency in more than 60% of DS patients. Some of the problems experienced by people with DS may be due to changed level of these trace elements.

  19. Down syndrome and moyamoya: clinical presentation and surgical management.

    Science.gov (United States)

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

    2015-07-01

    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  20. Narrative Story-Telling in Autism and Down Syndrome.

    Science.gov (United States)

    Loveland, Katherine A.; And Others

    Sixteen subjects with autism and 16 with Down Syndrome (aged 5 to 27), matched on verbal mental age, watched a short puppet show or video skit and were then asked to tell the story to a listener and answer follow-up questions. The majority of both groups were able to produce recognizable, though primitive, narratives. The groups did not differ in…

  1. Maternal serum markers in screening for Down syndrome

    DEFF Research Database (Denmark)

    Nørgaard-Pedersen, B; Larsen, S O; Arends, J

    1990-01-01

    The addition of two new markers in maternal serum, estriol and HCG, to those already known, namely the level of maternal serum alfa-fetoprotein and maternal age, considerably improves the expected results of a screening strategy for Down syndrome. The detection rate is slightly increased from 53....

  2. Postural Control in Children, Teenagers and Adults with Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Mainardi, Luca; Crivellini, Marcello; Albertini, Giorgio

    2011-01-01

    The goal of this work was to analyze postural control in Down syndrome (DS) participants considering three different groups composed by children, teenagers and adults with DS. An analysis of the centre of pressure (COP) displacement during standing position was therefore performed for the three groups of subjects. The obtained signal of COP was…

  3. Prenatal screening for Down syndrome: a survey of health care ...

    African Journals Online (AJOL)

    Background: Down Syndrome (DS) is a common genetic disorder that is associated with high intrauterine lethality. Morbidity for the survivors includes congenital anomalies and Intellectual Disability (ID). Genetic screening for DS is an ever evolving field with remarkable progress made over the years. Health care workers ...

  4. Treating Speech Comprehensibility in Students with Down Syndrome

    Science.gov (United States)

    Yoder, Paul J.; Camarata, Stephen; Woynaroski, Tiffany

    2016-01-01

    Purpose: This study examined whether a particular type of therapy (Broad Target Speech Recasts, BTSR) was superior to a contrast treatment in facilitating speech comprehensibility in conversations of students with Down syndrome who began treatment with initially high verbal imitation. Method: We randomly assigned 51 5- to 12-year-old students to…

  5. How Do Health Care Providers Diagnose Down Syndrome?

    Science.gov (United States)

    ... National Human Genome Research Institute. (2010). Learning about Down syndrome . Retrieved June 11, 2012, from http://www.genome.gov/19517824#3 « How many people are affected? What are common treatments? » Related A-Z Topics Intellectual and Developmental Disabilities ( ...

  6. Depression in Down Syndrome: A Review of the Literature

    Science.gov (United States)

    Walker, J. C.; Dosen, A.; Buitelaar, J. K.; Janzing, J. G. E.

    2011-01-01

    Background: Depression has been frequently reported in individuals with Down Syndrome (DS). The aim of this article is to provide a comprehensive, critical review of the clinically relevant literature concerning depression in DS, with a focus on epidemiology, potential risk factors, diagnosis, course characteristics and treatment. Methods: We…

  7. First-trimester combined screening for Down syndrome

    DEFF Research Database (Denmark)

    Pihl, Kasper; Sørensen, Tina Lindvig; Nørgaard Pedersen, Bent

    2008-01-01

    OBJECTIVE: To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth w...

  8. Prevalence of overweight in Dutch children with Down Syndrome

    NARCIS (Netherlands)

    Gameren-Oosterom, H.B.M. van; Dommelen, P. van; Schönbeck, Y.; Oudesluys-Murphy, A.; Wouwen, J.P. van; Buitendijk, S.E.

    2012-01-01

    Prevalence of overweight in children is increasing, causing various health problems. This study aims to establish growth references for weight and to assess the prevalence rates of overweight and obesity in a nationwide sample of Dutch children with Down syndrome (DS), taking into account the

  9. Debunking Myths: Reading Development in Children with Down Syndrome

    Science.gov (United States)

    Cologon, Kathy

    2013-01-01

    There is a considerable and growing body of research investigating reading development in children with Down syndrome. However, there appears to be a common gap between the research evidence and instructional practices. It has been argued that teachers have insufficient information to enable them to implement effective literacy instruction with…

  10. Training Phoneme Blending Skills in Children with Down Syndrome

    Science.gov (United States)

    Burgoyne, Kelly; Duff, Fiona; Snowling, Maggie; Buckley, Sue; Hulme, Charles

    2013-01-01

    This article reports the evaluation of a 6-week programme of teaching designed to support the development of phoneme blending skills in children with Down syndrome (DS). Teaching assistants (TAs) were trained to deliver the intervention to individual children in daily 10-15-minute sessions, within a broader context of reading and language…

  11. Prevalence of Bruxism among Mexican Children with Down Syndrome

    Science.gov (United States)

    Lopez-Perez, Ruben; Lopez-Morales, Patricia; Borges-Yanez, S. Aida; Maupome, Gerardo; Pares-Vidrio, Gustavo

    2007-01-01

    This study sought to determine the prevalence of bruxism in a Mexican community of children with Down syndrome, and to evaluate bruxism's relationship with age, sex, intellectual disability level, and type of chromosomal abnormality of trisomy 21. Using a cross-sectional design, 57 boys and girls (3 to 14 years old) were examined. Three approaches…

  12. Dance Therapy with Physical Therapy for Children with Down Syndrome.

    Science.gov (United States)

    Dupont, Blanche Burt; Schulmann, Diana

    This study sought to investigate effects of a dance program on bilateral toe-standing balance and single-point static balance skills of a group of children with Down Syndrome. Thirteen experimental and 10 control group students between the ages of 3 and 13 years were assessed on toe-standing balance and single-point standing balance on the right…

  13. Actual Leisure Participation of Norwegian Adolescents with Down Syndrome

    Science.gov (United States)

    Dolva, Anne-Stine; Kleiven, Jo; Kollstad, Marit

    2014-01-01

    This article reports the actual participation in leisure activities by a sample of Norwegian adolescents with Down syndrome aged 14. Representing a first generation to grow up in a relatively inclusive context, they live with their families, attend mainstream schools, and are part of common community life. Leisure information was obtained in…

  14. Families of 30-35-Year Olds with Down's Syndrome

    Science.gov (United States)

    Carr, Janet

    2005-01-01

    Background: The families of a population sample of people with Down's syndrome (DS), and of their non-disabled controls, have been followed since early childhood, and the families have now been seen again as their sons and daughters reached age 30 and 35 years. Methods: A semi-structured interview schedule was used, including items from the…

  15. Core vocabulary of young children with Down syndrome

    NARCIS (Netherlands)

    Deckers, S.R.J.M.; Zaalen, Y. van; Balkom, L.J.M. van; Verhoeven, L.T.W.

    2017-01-01

    The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups

  16. Communication and Self-Esteem in Adults with Down Syndrome

    Science.gov (United States)

    Jackson, Claire; Cavenagh, Penny; Clibbens, John

    2014-01-01

    Background: It is estimated that around 50-90% of people with learning disabilities experience difficulties in communicating. Previous research has linked communication difficulties and self-esteem in other populations, yet this relationship has not previously been investigated for people with Down syndrome. Aims: To explore the relationship…

  17. High frequency of celiac disease in Down syndrome

    NARCIS (Netherlands)

    George, E. K.; Mearin, M. L.; Bouquet, J.; von Blomberg, B. M.; Stapel, S. O.; van Elburg, R. M.; de Graaf, E. A.

    1996-01-01

    We screened 115 children with Down syndrome for celiac disease, using antigliadin, antiendomysium, and antireticulin serum antibodies and an intestinal permeability test, Celiac disease was diagnosed in eight children, giving a frequency of 7.0%. We recommend screening for celiac disease in all

  18. Down's syndrome with Ventricular septal Defect (VsD)

    African Journals Online (AJOL)

    InTRodUcTIon. Down's syndrome (DS) (Trisomy 21) occurs in about one in 800 live births without predilection for race or socioeconomic class with a male to female ratio of. 1:1. It is the most common chromosomal abnormality in newborns and one of the most frequent genetic causes of mild to moderate mental retardation1, ...

  19. Fundamental Movement Skills and Balance of Children with Down Syndrome

    Science.gov (United States)

    Capio, C. M.; Mak, T. C. T.; Tse, M. A.; Masters, R. S. W.

    2018-01-01

    Background: Conclusive evidence supports the importance of fundamental movement skills (FMS) proficiency in promoting physical activity and countering obesity. In children with Down Syndrome (DS), FMS development is delayed, which has been suggested to be associated with balance deficits. This study therefore examined the relationship between FMS…

  20. Effectiveness of Responsive Teaching with Children with Down Syndrome

    Science.gov (United States)

    Karaaslan, Ozcan; Mahoney, Gerald

    2013-01-01

    A randomized control study was conducted to evaluate Responsive Teaching (RT) with a sample of 15 Turkish preschool aged children with Down syndrome (DS) and their mothers over a six-month period of time. RT is an early intervention curriculum that attempts to promote children's development by encouraging parents to engage in highly responsive…

  1. The prevalence of Down syndrome in County Galway.

    Science.gov (United States)

    O'Nualláin, S; Flanagan, O; Raffat, I; Avalos, G; Dineen, B

    2007-01-01

    This is a retrospective survey of all cases of Down syndrome recorded between 1981 and 2000 to mothers resident in Co. Galway. The study compares the incidence of Down syndrome in both decades and examines the effects of changing demographics on incidence rates. The overall prevalence rate was 26.8/10,000 live births for the full period. Although there were 5119 fewer births in the 1991-2000 period, the prevalence was 29.8/10,000 compared to 24.1/10,000 in the previous decade. Despite the falling birth rates and fertility rates observed in our study between the two decades we found that the higher prevalence of Down syndrome in the second decade was directly related to the significant increase in the proportion of women in the 30 plus age group. Our study also found the place of the child with Down syndrome in the family changed, with 25.3% being the 5th or more child in the first decade compared with 9.5% in the second decade.

  2. Down Syndrome Temperament: The Stereotype at Middle Childhood and Adolescence.

    Science.gov (United States)

    Gunn, Pat; Cuskelly, Monica

    1991-01-01

    Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…

  3. Prenatal diagnosis of Down syndrome: A 13-year retrospective study

    Directory of Open Access Journals (Sweden)

    Ana Vičić

    2017-12-01

    Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

  4. Growth and development profile of Indian children with Down syndrome.

    Science.gov (United States)

    Koshy, Beena; Navamani, Kirubakaran; Oommen, Samuel Philip; Srivastava, Vivi M

    2012-08-01

    In this retrospective study, we describe the profile of 88 children with Down syndrome. The average BMI for children showed a progressive increase with age. Compared to the previously published development profile, there was a significant improvement in the language domain.

  5. Reported Sensory Processing of Children with Down Syndrome

    Science.gov (United States)

    Bruni, Maryanne; Cameron, Debra; Dua, Shelly; Noy, Sarah

    2010-01-01

    Investigators have identified delays and differences in cognitive, language, motor, and sensory development in children with Down syndrome (DS). The purpose of this study was to determine the parent-reported frequency of sensory processing issues in children with DS aged 3-10 years, and the parent-reported functional impact of those sensory…

  6. Diagnosing Alzheimer's Dementia in Down Syndrome: Problems and Possible Solutions

    Science.gov (United States)

    Nieuwenhuis-Mark, Ruth E.

    2009-01-01

    It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and…

  7. High frequency of celiac disease in Down syndrome

    NARCIS (Netherlands)

    George, EK; Mearin, ML; Bouquet, J; vonBlomberg, ME; Stapel, SO; vanElburg, RM; deGraaf, EAB

    We screened 115 children with Down syndrome for celiac disease, using antigliadin, antiendomysium, and antireticulin serum antibodies and an intestinal permeability test, Celiac disease was diagnosed in eight children, giving a frequency of 7.0%. We recommend screening for celiac disease in all

  8. Quality of life of parents with Down syndrome children

    Directory of Open Access Journals (Sweden)

    Leandro Loureiro Buzatto

    2008-09-01

    Full Text Available Objectives: The purpose of this study was to investigate the social and demographic features and quality of life of parents that have children with Down syndrome, and to verify the influence that the care of these children has on the quality of life of their parents. Methods: This was an investigative and descriptive study that included a sample of 30 parents that have children with Down syndrome who were registered in the APAE Sao Paulo and APAE Barueri. A questionnaire elaborated by the authors and the Quality of Life Scale (WHOQOL-BREF questionnaire were applied. Rresults: In the sample of 30 parents of children with Down syndrome, 80% were female. The age ranged from 28 to 49 years, mean of 37 years. The quality of life was described as “good” by 60% of the sample. The following WOHQOL-BREF scores were found: social (80.72; physical (73.36; environmental (69.74; and psychological (60.28. There were 12 responses about the influence of the care of Down syndrome children on quality of life, of which 58.3% reported major involvement with the education and care of the children, which resulted in satisfaction. Cconclusion: The psychological domain had the lowest score in the quality of life evaluation, suggesting that parents need to be offered psychological support.

  9. Down's syndrome in South Africa - incidence, maternal age and ...

    African Journals Online (AJOL)

    Down's syndrome (DS) is the most common chromosomal cause of mental retardation, and amniocentesis is the most significant factor affecting its prevalence. In South Africa, prenatal cytogenetic diagnoses have been available for just over a decade and the utilisation and effect of this procedure in the white population ...

  10. Lower neonatal screening thyroxine concentrations in Down syndrome newborns

    NARCIS (Netherlands)

    van Trotsenburg, A. S. P.; Vulsma, T.; van Santen, H. M.; Cheung, W.; de Vijlder, J. J. M.

    2003-01-01

    There is an unexplained higher incidence of congenital hypothyroidism (CH) detected by T-4-based neonatal screening programs and a very high prevalence of (mild) plasma TSH elevation in young children with Down syndrome (DS). To determine whether newborns with DS have decreased blood T-4

  11. Positive Adjustment in Parents Rearing Children with Down Syndrome.

    Science.gov (United States)

    Flaherty, Evelyn M.; Glidden, Laraine Masters

    2000-01-01

    Compared adjustment in adoptive and biological parents rearing 1- to 12-year-olds with Down syndrome. Found that birth mothers and fathers were functioning quite similarly to adoptive mothers and fathers on family strengths, marital adjustment, and resources and stress. Birth mothers displayed higher personal burden than adoptive mothers, with the…

  12. Gross Motor Skill Acquisition in Adolescents with Down Syndrome

    Science.gov (United States)

    Meegan, Sarah; Maraj, Brian K. V.; Weeks, Daniel; Chua, Romeo

    2006-01-01

    The purpose of this study was to assess whether verbal-motor performances deficits exhibited by individuals with Down syndrome limited their ability to acquire gross motor skills when given visual and verbal instruction together and then transferred to either a visual or verbal instructional mode to reproduce the movement. Nine individuals with…

  13. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  14. Womens' preference in Down syndrome screening

    NARCIS (Netherlands)

    de Graaf, IM; Tijmstra, T; Bleker, O.P.; van Lith, JMM

    Objective To determine the knowledge of pregnant women about prenatal tests. and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. Patients and methods Pregnant women receiving antenatal care in a

  15. Growth curves in Down syndrome with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Caroline D’Azevedo Sica

    Full Text Available SUMMARY Introduction: To assess dietary habits, nutritional status and food frequency in children and adolescents with Down syndrome (DS and congenital heart disease (CHD. Additionally, we attempted to compare body mass index (BMI classifications according to the World Health Organization (WHO curves and curves developed for individuals with DS. Method: Cross-sectional study including individuals with DS and CHD treated at a referral center for cardiology, aged 2 to 18 years. Weight, height, BMI, total energy and food frequency were measured. Nutritional status was assessed using BMI for age and gender, using curves for evaluation of patients with DS and those set by the WHO. Results: 68 subjects with DS and CHD were evaluated. Atrioventricular septal defect (AVSD was the most common heart disease (52.9%. There were differences in BMI classification between the curves proposed for patients with DS and those proposed by the WHO. There was an association between consumption of vitamin E and polyunsaturated fatty acids. Conclusion: Results showed that individuals with DS are mostly considered normal weight for age, when evaluated using specific curves for DS. Reviews on specific curves for DS would be the recommended practice for health professionals so as to avoid precipitated diagnosis of overweight and/or obesity in this population.

  16. [Behaviour problems of children with Down syndrome in preschool-age - Results from the Heidelberg Down syndrome study].

    Science.gov (United States)

    Sarimski, Klaus

    2018-05-01

    We report on the frequency and the correlations of behaviour problems among children with Down syndrome in preschool-age. As part of a longitudinal study 48 mothers of children with Down syndrome completed the German version of the “Strengths and Difficulties Questionnaire” (SDQ-D) and the Parenting Stress Inventory (PSI). The mothers were asked to fill out the questionnaires when the children had a mean age of five years. The results were compared to norms from children with typical development. Thirty per cent of the children with Down syndrome were rated as abnormal. Specifically, mean scores indicating problems with children of the same age and hyperactivity were elevated. A regression analysis predicting the total problem score of the SDQ-D revealed maternal educational level, optimistic attitude, and subjective parental stress at the age of one year and the degree of behavioural abnormalities at the age of three years as significant influential factors. Early intervention for Down syndrome children should include supporting parenting competence and coping skills in order to prevent behaviour problems.

  17. An economic evaluation of second-trimester genetic ultrasonography for prenatal detection of down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T; Knuppel, R A

    1998-11-01

    The objective of this study was to perform an economic evaluation of second-trimester genetic ultrasonography for prenatal detection of Down syndrome. More specifically, we sought to determine the following: (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of genetic ultrasonography versus genetic amniocentesis for women at increased risk for fetal Down syndrome and (2) the possible economic impact of second-trimester genetic ultrasonography for the US population on the basis of the ultrasonographic accuracies reported in previously published studies. A cost-benefit equation was developed from the hypothesis that the cost of universal genetic amniocentesis of patients at increased risk for carrying a fetus with Down syndrome should be at least equal to the cost of universal genetic ultrasonography with amniocentesis used only for those with abnormal ultrasonographic results. The main components of the equation included the diagnostic accuracy of genetic ultrasonography (sensitivity and specificity for detecting Down syndrome), the costs of the amniocentesis package and genetic ultrasonography, and the lifetime cost of Down syndrome cases not detected by the genetic ultrasonography. After appropriate manipulation of the equation a graph was constructed, representing the balance between sensitivity and false-positive rate of genetic ultrasonography; this was used to examine the accuracy of previously published studies from the cost-benefit point of view. Sensitivity analyses included individual risks for Down syndrome ranging from 1:261 (risk of a 35-year-old at 18 weeks' gestation) to 1:44 (risk of a 44-year-old at 18 weeks' gestation). This economic evaluation was conducted from the societal perspective. Genetic ultrasonography was found to be economically beneficial only if the overall sensitivity for detecting Down syndrome was >74%. Even then, the cost-benefit ratio depended on the corresponding false-positive rate. Of the 7

  18. Down syndrome screening methods in Iranian pregnant women

    Directory of Open Access Journals (Sweden)

    Azizeh Farshbaf Khalili

    2012-08-01

    Full Text Available Introduction: Down syndrome is one of the most prevalent genetic diseases. Screening methods for this syndrome are easy and safe and are recommended to all pregnant wom-en particularly mothers over 35 years of age. This study aimed to review the status of Down syndrome screening and related factors in Iranian pregnant women. Methods: This descriptive analytical study was carried out in 2011. It included 400 women who were randomly selected from those referring to Alzahra Hospital (Tabriz, Iran during their third trimester of pregnancy. Data was collected through a question-naire whose reliability and validity have been approved. The data was analyzed by chi-square test in SPSS13. Results: The results showed that while 28 and 26 women imple-mented screening tests during the first and second trimesters, respectively, only 5 sub-jects benefited from both (integrated test. Chi-square test showed significant correla-tions between the implementation of screening methods and age, education level, in-come, and the location of prenatal care (p < 0.05. Conclusion: The findings of the present study showed women to poorly implement Down syndrome screening methods. Therefore, the necessity of providing appropriate educational programs for health staff and mothers seems undeniable. Moreover, paying attention to the related factors such as income, educational level, and adequate training of mothers during pregnancy is essential.

  19. The Effect of Acetyl-L-Carnitine Administration on Persons with Down Syndrome

    Science.gov (United States)

    Pueschel, Siegfried M.

    2006-01-01

    Since previous investigations reported improvements in cognition of patients with dementia after acetyl-L-carnitine therapy and since there is an increased risk for persons with Down syndrome to develop Alzheimer disease, this study was designed to investigate the effect of acetyl-L-carnitine administration on neurological, intellectual, and…

  20. mTOR Hyperactivation in down syndrome hippocampus appears early during development

    NARCIS (Netherlands)

    Iyer, Anand M.; van Scheppingen, Jackelien; Milenkovic, Ivan; Anink, Jasper J.; Adle-Biassette, Homa; Kovacs, Gabor G.; Aronica, Eleonora

    2014-01-01

    The mammalian target of rapamycin (mTOR) signaling pathway is a key developmental pathway involved in mechanisms underlying cellular aging and neurodegeneration. We hypothesized that its deregulation may occur during early brain development in patients with Down syndrome (DS). The expression

  1. Physicians compliance during maintenance therapy in children with Down syndrome and acute lymphoblastic leukemia

    DEFF Research Database (Denmark)

    Bohnstedt, C; Levinsen, M; Rosthøj, S

    2013-01-01

    Children with Down syndrome (DS) and acute lymphoblastic leukemia (ALL) have an inferior prognosis compared with non-DS ALL patients. We reviewed methotrexate (MTX)/mercaptopurine (6MP) maintenance therapy data for children with DS treated according to the Nordic Society of Pediatric Hematology...

  2. Perceived risk of prenatal diagnostic procedure-related miscarriage and Down syndrome among pregnant women.

    Science.gov (United States)

    Caughey, Aaron B; Washington, A Eugene; Kuppermann, Miriam

    2008-03-01

    The objective of the study was to identify correlates of perceived risk of carrying a Down syndrome-affected fetus or experiencing a procedure-related miscarriage among a diverse group of pregnant women. We conducted a cross-sectional survey of 1081 English-, Spanish-, or Chinese-speaking women receiving prenatal care in the San Francisco Bay area. Perceived risk of procedure-related miscarriage or carrying a Down syndrome-affected fetus was assessed using a linear rating scale from 0 (no risk) to 1 (high risk). Bivariate and multivariable analyses were used to explore associations between maternal characteristics including age, race/ethnicity, and socioeconomic status and perceived risks of carrying a Down syndrome-affected fetus or experiencing a procedure-related miscarriage. Women aged 35 years old or older had a higher perceived risk of Down syndrome than younger women (0.28 vs 0.22 on a scale from 0 to 1, P self-perceived health status (+0.08, P = .045). Latinas (+0.11, P = .008), women with an annual income less than $35,000 (+0.09, P = .003), and those who had difficulty conceiving (+0.09, P = .026) had higher perceived procedure-related miscarriage risk. Among women aged 35 years or older, perceived risk of carrying a Down syndrome-affected fetus was associated with the inclination to undergo prenatal diagnosis. Women's perceived risks of carrying a Down syndrome-affected fetus or having a procedure-related miscarriage are associated with numerous characteristics that have not been shown to be associated with the actual risks of these events. These perceived risks are associated with prenatal diagnostic test inclination. Understanding patients' risk perceptions and effectively communicating risk is critical to helping patients make informed decisions regarding use of invasive prenatal testing.

  3. The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-07-01

    Full Text Available Background The prevalence of celiac disease (CD is remarkably varied in Down syndrome(DSpatientscompared with other diseases.  This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three groups. Clinical and genetic tests were performed on all patients suspected with Down syndrome to confirm their diseases.  After that in patients with confirmed Down syndrome echocardiography was carried out to diagnosis of CHD. Healthy children selected randomly among those who referred to the center for annual check-up. Statistical evaluation was done using SPSS-16. Results For the factors of age, weight, height and Body Mass Index (BMI not observed significant differences between three groups of participants, but it would be observed statistically differences for the variable of tTG- IgA.  For variables of weight, tTG- IgA and BMI was observed statistically different in the case and controls. The status of tTG- IgA (normal or 20 had significant correlation with three groups of controls, Down syndrome with and without CHD. The status of tTG- IgA also had significant correlation with groups of case and controls. In comparison of tTG- IgA in DS patients with and without CHD, no significant differences were observed. Conclusion The prevalence of CD in DS patients was higher compared the controls population; and in DS patients with CHD was higher compared the DS patients without CHD.

  4. Effect of core stability exercise on postural stability in children with Down syndrome

    OpenAIRE

    Sobhy M. Aly

    2016-01-01

    Down syndrome is one of the commonest causes of developmental delay in children. Postural stability problems often exist with Down syndrome. To investigate the effect of core stability exercises on postural stability in children with down syndrome. Thirty children (21 boys and 9 girls) with down syndrome, with ages ranged from 6 to 10 years were participated in this study. They were assigned randomlyinto study and control group. Study group received core stability exercises and conventional p...

  5. Discriminating Down Syndrome and Fragile X Syndrome Based on Language Ability

    Science.gov (United States)

    Finestack, Lizbeth H.; Sterling, Audra M.; Abbeduto, Leonard

    2013-01-01

    This study compared the receptive and expressive language profiles of verbally expressive children and adolescents with Down Syndrome (DS) and those with Fragile X syndrome (FXS) and examined the extent to which these profiles reliably differentiate the diagnostic groups. A total of twenty-four verbal participants with DS (mean age: 12 years),…

  6. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

    Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  7. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Science.gov (United States)

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  8. Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome

    Science.gov (United States)

    Wilde, Lucy; Mitchell, Anna; Oliver, Chris

    2016-01-01

    Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly…

  9. Pathways to Language: A Naturalistic Study of Children with Williams Syndrome and Children with Down Syndrome

    Science.gov (United States)

    Levy, Yonata; Eilam, Ariela

    2013-01-01

    This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…

  10. Pediatric acute respiratory distress syndrome: Host factors in Down syndrome and the general population

    NARCIS (Netherlands)

    Bruijn, M.

    2013-01-01

    We find that Down syndrome is an important risk factor for developing acute respiratory distress syndrome (ARDS) in children, but the reason why remains to be elucidated. In addition, we find several differences between adult and pediatric ARDS. The association between C-reactive protein (CRP)

  11. Articulation and Noncomprehension Signaling in Adolescent and Adult Males with Down Syndrome and Fragile X Syndrome

    Science.gov (United States)

    Fedak, Larissa Ann

    2012-01-01

    The purpose of this study was to determine whether or not decreased articulation of speech played a role in the ability of an individual with Down syndrome or Fragile X syndrome to signal noncomprehension and whether the two groups differed in their levels of articulation of speech and noncomprehension signaling ability. The research was conducted…

  12. Spine concerns in the Special Olympian with Down syndrome.

    Science.gov (United States)

    Tassone, James Channing; Duey-Holtz, Allison

    2008-03-01

    As with any child participating in sports, the safety of The Special Olympian participating in athletics is paramount. The preparticipation medical clearance is necessary to ensure these athletes' safety. In response to evidence that 15% of all individuals with Down syndrome have atlanto-occipital and/or atlanto-axial instability or subluxation, the Special Olympics Inc have additionally mandated preparticipation spine clearance for all individuals with Down syndrome. Spine clearance for the Special Olympian is challenging for the healthcare provider. In addition, controversy has arisen surrounding The Special Olympics Inc policy statement. The purposes of this article are to provide healthcare providers with a review of atlanto-occipital and atlanto-axial instability and subluxation, review spine clearance guidelines, discuss the details and controversy surrounding The Special Olympics Inc mandate, and provide recommendations on how to improve screening and ensure safety of the participants based on the current medical literature.

  13. Pharmacological interventions for cognitive decline in people with Down syndrome.

    Science.gov (United States)

    Livingstone, Nuala; Hanratty, Jennifer; McShane, Rupert; Macdonald, Geraldine

    2015-10-29

    People with Down syndrome are vulnerable to developing dementia at an earlier age than the general population. Alzheimer's disease and cognitive decline in people with Down syndrome can place a significant burden on both the person with Down syndrome and their family and carers. Various pharmacological interventions, including donepezil, galantamine, memantine and rivastigmine, appear to have some effect in treating cognitive decline in people without Down syndrome, but their effectiveness for those with Down syndrome remains unclear. To assess the effectiveness of anti-dementia pharmacological interventions and nutritional supplements for treating cognitive decline in people with Down syndrome. In January 2015, we searched CENTRAL, ALOIS (the Specialised Register of the Cochrane Dementia and Cognitive Improvement Group), Ovid MEDLINE, Embase, PsycINFO, seven other databases, and two trials registers. In addition, we checked the references of relevant reviews and studies and contacted study authors, other researchers and relevant drug manufacturers to identify additional studies. Randomised controlled trials (RCTs) of anti-dementia pharmacological interventions or nutritional supplements for adults (aged 18 years and older) with Down syndrome, in which treatment was administered and compared with either placebo or no treatment. Two review authors independently assessed the risk of bias of included trials and extracted the relevant data. Review authors contacted study authors to obtain missing information where necessary. Only nine studies (427 participants) met the inclusion criteria for this review. Four of these (192 participants) assessed the effectiveness of donepezil, two (139 participants) assessed memantine, one (21 participants) assessed simvastatin, one study (35 participants) assessed antioxidants, and one study (40 participants) assessed acetyl-L-carnitine.Five studies focused on adults aged 45 to 55 years, while the remaining four studies focused on

  14. Congenital Chylothorax in a Newborn with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Nazan Neslihan Doğan

    2017-03-01

    Full Text Available In the neonatal period, the most common cause of pleural effusion is idiopathic congenital chylothorax. Congenital chylothorax is rarely associated with chromosomal abnormalities, such as Down, Turner and Noonan syndromes. The diagnosis can be made after analysis of the pleural fluid drained by thoracentesis or chest tube placement. During the neonatal period, chylothorax treatment is composed of conservative and surgical therapies. Nowadays, for cases among which conservative therapies fail, treatment with octreotide has been reported to be beneficial with promising results. In this report, a case of congenital chylothorax, in a newborn with Down syndrome, treated by octreotide after failure of chest tube drainage and medical treatment (total parenteral nutrition and medium chain fatty acid formula is presented.

  15. Benefits to Down's syndrome children through training their mothers.

    Science.gov (United States)

    Bidder, R T; Bryant, G; Gray, O P

    1975-05-01

    This study investigated the hypothesis that training of mothers with Down's syndrome children would be beneficial both to the child and parents. The mothers were taught behaviour modification techniques based on learning theory and were given group discussions on dealing with their family or personal problems. The subjects were 16 mothers with a Down's syndrome child, divided into two groups on the basis of their child's sex and chronological and mental ages. The Griffiths Scale was used for assessment. The mothers in the treatment group received 12 sessions of training and group counseling over a 6-month period, whereas the control mothers received no additional attention except the usual routine from the general practitioner and health visitor. The result show clear gains to both the child and mother in the treatment group. The child improved, especially in language development as well as in the other areas, and the mother-gained more confidence and competence in her daily management of the child.

  16. Down syndrome clusters in Germany after the Chernobyl accident

    International Nuclear Information System (INIS)

    Burkart, W.; Grosche, B.; Schoetzau, A.

    1997-01-01

    In two independent studies using different approaches and covering West Berlin and Bavaria, respectively, highly significant temporal clusters of Down syndrome were found. Both sharp increases occurred in areas receiving relatively low Chernobyl fallout and concomitant radiation exposures. Only for the Berlin cluster was fallout present at the time of the affected meiosis, whereas the Nuremberg cluster preceded the radioactive contamination by 1 month. Hypotheses on possible causal relationships are compared. Radiation from the Chernobyl accident is an unlikely factor, because the associated cumulative dose was so low in comparison with natural background. Microdosimetric considerations would indicate that fewer than 1 in 200 oocyte nuclei would have experienced an ionizing event from Chernobyl radioactivity. Given the lack of understanding of what causes Down syndrome, other than factors associated with increased maternal age, additional research into environmental and infectious risk factors is warranted. 23 refs., 4 figs., 2 tabs

  17. Physical activity patterns of youth with Down syndrome.

    Science.gov (United States)

    Esposito, Phil E; MacDonald, Megan; Hornyak, Joseph E; Ulrich, Dale A

    2012-04-01

    The purpose of this study was to examine the physical activity patterns of children with Down syndrome. A cross-sectional approach and accelerometry were used to measure the time children with Down syndrome (N = 104) spent in sedentary, light, and moderate-to-vigorous physical activity. Results indicated that adolescents from ages 14 to 15 years were the most sedentary and spent the least amount of time in light and moderate-to-vigorous physical activity. A general trend of decreasing physical activity as children increase in age was found. This trend is similar to that found among typically developing youth. Participants in this study were found to spend a majority of their day engaged in sedentary activities. Results indicate that most participants were not accumulating the recommended 60 minutes of moderate or vigorous physical activity.

  18. Disparities in Health Supervision for Children With Down Syndrome.

    Science.gov (United States)

    Williams, Katie; Wargowski, David; Eickhoff, Jens; Wald, Ellen

    2017-12-01

    Increasing evidence suggests children with Down syndrome do not receive recommended health care services. We retrospectively assessed adherence to the 2001 American Academy of Pediatrics health supervision guidelines for 124 children with Down syndrome. Cervical spine radiographs were completed for 94% of children, often preoperatively. Adherence to complete blood count recommendations was 55% (95% CI 44% to 66%); lower for males ( P = .01) and children with private medical insurance ( P = .04). Adherence to thyroid function recommendations was 61% (95% CI 54% to 67%); higher for children seen by a pediatrician ( P = .002) and with known thyroid disease ( P < .0001). Adherence to audiology and ophthalmology recommendations was 33% (95% CI 27% to 40%) and 43% (95% CI 37% to 50%), respectively. Adherence rates were higher for children referred to an otolaryngologist ( P = .0002) and with known eye disease ( P < .0001). Future efforts should identify barriers to care and improve adherence to recommended screening.

  19. Outcome Measures for Clinical Trials in Down Syndrome.

    Science.gov (United States)

    Esbensen, Anna J; Hooper, Stephen R; Fidler, Deborah; Hartley, Sigan L; Edgin, Jamie; d'Ardhuy, Xavier Liogier; Capone, George; Conners, Frances A; Mervis, Carolyn B; Abbeduto, Leonard; Rafii, Michael; Krinsky-McHale, Sharon J; Urv, Tiina

    2017-05-01

    Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

  20. Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support.

    Science.gov (United States)

    Dudoignon, Benjamin; Amaddeo, Alessandro; Frapin, Annick; Thierry, Briac; de Sanctis, Livio; Arroyo, Jorge Olmo; Khirani, Sonia; Fauroux, Brigitte

    2017-08-01

    Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6.2 ± 5.9 years. Eighteen patients (32%) had prior upper airway surgery. Mean apnea-hypopnea index (AHI) was 14 ± 16 events/hr with 41 of the 51 (80%) patients having OSA with an AHI >1 event/hr and 20 patients (39%) having an AHI ≥10 events/hr. Consequently, eight patients (14%) had upper airway surgery. OSA improved in all patients except two who needed noninvasive respiratory support. Nineteen (33%) patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7 ± 7 years. On 11 patients with objective adherence data available, mean compliance at 2 ± 1 years of treatment was excellent with an average use per night of 8 hr46 ± 3 hr59 and 9 patients using the noninvasive respiratory support >4 hr/night. Noninvasive respiratory support was associated with an improvement of nocturnal gas exchange. The prevalence of OSA is high in Down syndrome. Upper airway surgery is not always able to correct OSA. Noninvasive respiratory support represents then an effective treatment for OSA and good compliance may be achieved in a majority of patients. © 2017 Wiley Periodicals, Inc.

  1. Implicit theories concerning the intelligence of individuals with Down syndrome.

    Directory of Open Access Journals (Sweden)

    Claire Enea-Drapeau

    Full Text Available Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence are key elements. The belief that intelligence is fixed (entity theory, as opposed to malleable (incremental theory, is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers

  2. Implicit theories concerning the intelligence of individuals with Down syndrome.

    Science.gov (United States)

    Enea-Drapeau, Claire; Carlier, Michèle; Huguet, Pascal

    2017-01-01

    Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence) are key elements. The belief that intelligence is fixed (entity theory), as opposed to malleable (incremental theory), is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive) the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers, and other

  3. Anomalous brain functional connectivity contributing to poor adaptive behavior in Down syndrome.

    Science.gov (United States)

    Pujol, Jesus; del Hoyo, Laura; Blanco-Hinojo, Laura; de Sola, Susana; Macià, Dídac; Martínez-Vilavella, Gerard; Amor, Marta; Deus, Joan; Rodríguez, Joan; Farré, Magí; Dierssen, Mara; de la Torre, Rafael

    2015-03-01

    Research in Down syndrome has substantially progressed in the understanding of the effect of gene overexpression at the molecular level, but there is a paucity of information on the ultimate consequences on overall brain functional organization. We have assessed the brain functional status in Down syndrome using functional connectivity MRI. Resting-state whole-brain connectivity degree maps were generated in 20 Down syndrome individuals and 20 control subjects to identify sites showing anomalous synchrony with other areas. A subsequent region-of-interest mapping served to detail the anomalies and to assess their potential contribution to poor adaptive behavior. Down syndrome individuals showed higher regional connectivity in a ventral brain system involving the amygdala/anterior temporal region and the ventral aspect of both the anterior cingulate and frontal cortices. By contrast, lower functional connectivity was identified in dorsal executive networks involving dorsal prefrontal and anterior cingulate cortices and posterior insula. Both functional connectivity increases and decreases contributed to account for patient scoring on adaptive behavior related to communication skills. The data overall suggest a distinctive functional organization with system-specific anomalies associated with reduced adaptive efficiency. Opposite effects were identified on distinct frontal and anterior temporal structures and relative sparing of posterior brain areas, which is generally consistent with Down syndrome cognitive profile. Relevantly, measurable connectivity changes, as a marker of the brain functional anomaly, could have a role in the development of therapeutic strategies addressed to improve the quality of life in Down syndrome individuals. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

    Science.gov (United States)

    Sung, Hyunsook; And Others

    1997-01-01

    A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

  5. Children with Down Syndrome: Life Stories of Parents

    Directory of Open Access Journals (Sweden)

    Maritza Esquivel-Herrera

    2015-01-01

    Full Text Available This paper is based on the premise that early stimulation is the appropriate program to start the integral care and education of newborns with Down Syndrome, with the primary objective being to optimize their cognitive, physical and socio-emotional capabilities. For this purpose, a naturalist paradigm and a descriptive case type approach were used, mainly with qualitative data related to the life stories of parents with Down Syndrome children. Parents (9 mothers and one father participated voluntarily in the research project. One of the instruments used was the compilation of life histories, which were collected though interviews to parents and were systematized in the form of chronicles.  Another instrument was phrases or sentences to fill in the blanks, which were used to know the deepest impressions experienced by parents before and after the birth of their Down Syndrome child.  This paper is intended to provide support to those who experience daily situations similar to the ones mentioned here and, particularly to impact on the time management in the integral development of children with this condition.

  6. Core vocabulary of young children with Down syndrome.

    Science.gov (United States)

    Deckers, Stijn R J M; Van Zaalen, Yvonne; Van Balkom, Hans; Verhoeven, Ludo

    2017-06-01

    The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions). Of these children, 19 used multimodal communication, primarily manual signs and speech. Functional word use in both modalities was transcribed. The 50 most frequently used core words accounted for 67.2% of total word use; 16 words comprised core vocabulary, based on commonality. These data are consistent with similar studies related to the core vocabularies of preschoolers and toddlers with typical development, although the number of nouns present on the core vocabulary list was higher for the children in the present study. This finding can be explained by manual sign use of the children with Down syndrome and is reflective of their expressive vocabulary ages.

  7. Stiffness of the large arteries in individuals with and without Down syndrome

    Directory of Open Access Journals (Sweden)

    Nunes Rodrigues A

    2011-06-01

    Full Text Available Anabel N Rodrigues1,2, Luan Cesar Coelho1, Washington LS Goncalves1,2, Sonia Alves Gouvea2, Maria José Rossi Vasconcellos1, Roberto S Cunha2, Glaucia R Abreu21School of Medicine, University Center of Espírito Santo, Colatina; 2Postgraduate Program in Physiological Sciences, Center for Health Sciences, Federal University of Espirito Santo, Vitória, BrazilBackground: Down syndrome is known to cause premature aging in several organ systems. However, it remains unclear whether this aging effect also affects the structure and function of the large arterial trunks. In this controlled study, the possibility of changes in the large arteries due to aging was evaluated in patients with Down syndrome.Methods: Eighty-two subjects of both genders were selected. The Down syndrome group had 41 active subjects consisting of 19 males and 22 females (mean age 21 ± 1, range 13–42 years without cardiovascular complications and who did not use vasoactive drugs. The control group consisted of 41 healthy individuals without trisomy 21 of the same gender and age as the Down syndrome group and who did not use vasoactive medication. Carotid–femoral pulse wave velocity was obtained as an index of aortic stiffness using an automatic noninvasive method.Results: Individuals with Down syndrome had significantly lower blood pressure than those in the control group. Systolic blood pressure for the Down syndrome group and control group was 106 ± 2 mmHg vs 117 ± 2 mmHg (P < 0.001, respectively; diastolic blood pressure was 66 ± 2 mmHg vs 77 ± 2 mmHg (P <0.001; and mean arterial pressure was 80 ± 1 mmHg vs 90 ± 1 mmHg (P < 0.001. Only age and systolic blood pressure were shown to correlate significantly with pulse wave velocity, but the slopes of the linear regression curves of these two variables showed no significant difference between the two study groups. Pulse wave velocity, which was initially significantly lower in the Down syndrome group (7.51 ± 0.14 m/s vs

  8. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

    Science.gov (United States)

    Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

    2015-05-01

    Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome. © 2014 Japanese Teratology Society.

  9. Screening athletes with Down syndrome for ocular disease.

    Science.gov (United States)

    Gutstein, Walter; Sinclair, Stephen H; North, Rachel V; Bekiroglu, N

    2010-02-01

    Persons with Down syndrome are well known to have a high prevalence of vision and eye health problems, many of which are undetected or untreated primarily because of infrequent ocular examinations. Public screening programs, directed toward the pediatric population, have become more popular and commonly use letter or symbol charts. This study compares 2 vision screening methods, the Lea Symbol chart and a newly developed interactive computer program, the Vimetrics Central Vision Analyzer (CVA), in their ability to identify ocular disease in the Down syndrome population. Athletes with Down syndrome participating in the European Special Olympics underwent an ocular screening including history, auto-refraction, colour vision assessment, stereopsis assessment, motility assessment, pupil reactivity, and tonometry testing, as well as anterior segment and fundus examinations to evaluate for ocular disease. Visual acuity was tested with the Lea chart and CVA to evaluate these as screening tests for detecting ocular disease as well as significant, uncorrected refractive errors. Among the 91 athletes that presented to the screening, 79 (158 eyes) were sufficiently cooperative for the examination to be completed. Mean age was 26 years +/-10.8 SD. Significant, uncorrected refractive errors (>/=1.00 spherical equivalent) were detected in 28 (18%) eyes and ocular pathology in 51 (32%) eyes. The Lea chart sensitivity and specificity were 43% and 74%, respectively, for detecting ocular pathology and 58% and 100% for detecting uncorrected refractive errors. The CVA sensitivity and specificity were 70% and 86% for detecting pathology and 71% and 100% for detecting uncorrected refractive errors. This study confirmed the findings of prior studies in identifying a significant presence of uncorrected refractive errors and ocular pathology in the Down syndrome population. Screening with the Lea symbol chart found borderline sufficient sensitivity and specificity for the test to be used

  10. Motivation and learning styles in young children with Down syndrome.

    Science.gov (United States)

    Wishart, J

    2001-10-01

    There are both psychological and biological reasons to expect that certain areas of learning will present young children with Down syndrome with significant problems. Knowledge of the neurological underpinnings of these specific difficulties can often allow compensatory teaching strategies to be put in place, however, and some of these have proved highly effective. The impact of the psychological environment on the progress of development in children with Down syndrome is less well understood. Experience of how others respond to their attempts at understanding the physical and social world and the balance of successes and failures they experience in their early learning are both likely to influence the approach to learning adopted when faced with mastering new skills. Findings from inter-linking studies of cognitive and socio-cognitive development which have explored learning behaviours at different ages and at different developmental stages illustrate how a learning style can sometimes evolve over time in which less than efficient use is made of current levels of cognitive ability. Social ploys are sometimes used to avoid engagement in learning, with the net effect that opportunities to learn new skills are not fully exploited and old skills are sometimes inadequately consolidated. Findings of a misuse of social skills in cognitive contexts do not necessarily provide support for the widely-held view that social understanding is an area of strength in children with Down syndrome and less vulnerable to disruption than cognitive development. Data from a recent study of face-processing abilities suggest that there may in fact be a specific weakness in a fundamental skill normally underpinning the development of social understanding: the ability to recognise differences in emotional expressions. The children with Down syndrome in this study had few problems in correctly identifying individual faces but evidenced difficulties in reliably interpreting the emotional

  11. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  12. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  13. Problems with the language development in children with Down syndrome aged 5-7 years

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    Mustaf Morina

    2016-07-01

    Full Text Available This study aims to explore and investigate the linguistic developments regarding children with Down syndrome. The study was conducted by interviewing children with Down syndrome. The study shows many problems with these children associated with difficulties with the reasoning attention, imitation, routines, and language development of children with Down syndrome, such as, speech problem, a problem related to pronunciation, sound or voice. This study uses the (Inductive and Qualitative primary research (deductive method with six case studies of children with Down syndrome, being induced on the Problems and difficulties of children with the Down syndrome in the field of language development.

  14. A ring D chromosome in association with Down's syndrome-like phenotype

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    A. Wajntal

    1973-03-01

    Full Text Available The case of a ten-years-old mentally retarded girl with Down's syndrome-like features whose chromosome analysis revealed an unusual mosaicism including 10% mitosis with a ring chromosome replacing a D chromosome is reported. The clinical features of the patient were considered similar to those described by Jacobsen (1966 and Emberger et al. (1971 who interpreted the ring chromosome present in their patients as being chromosome 15.

  15. Mosaic Down syndrome and acute lymphoblastic B cell-leukemia. Case report

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    Parra-Baltazar, Isabel Mónica

    2016-10-01

    Full Text Available Down syndrome (DS or trisomy 21 is a constitutional chromosomal abnormality, which may be mosaic in 1 % to 4 % of cases. DS mosaic diagnosis is difficult because most patients have a normal phenotype and show no significant clinical abnormalities. Patients with DS have a higher risk of developing acute leukemia such as acute lymphoblastic leukemia (ALL. We report the case of a 19-year old woman with mosaic trisomy 21 and ALL.

  16. Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome

    International Nuclear Information System (INIS)

    Del-Rio Camacho, G.; Leal Orozco, A.; Camino Lopez, M.; Ruiz-Moreno, M.; Perez-Higueras, A.; Al-Assir, I.

    2001-01-01

    A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up the child remains asymptomatic. Moyamoya syndrome and cerebral venous thrombosis should not be overlooked as a cause of acute neurological deterioration in a child with Down's syndrome. MRA appears to be a safe and accurate alternative to traditional angiography for the diagnosis of moyamoya disease. Local fibrinolysis with r-TPA is the treatment of choice for cerebral venous thrombosis due to its safety and efficacy. (orig.)

  17. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-09-01

    Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation. The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members. In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS. © 2016 John Wiley & Sons Ltd.

  18. Late onset myoclonic epilepsy in Down syndrome and dementia

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    Annapia Verri

    2012-09-01

    Full Text Available Specific forms of epilepsy may be found at various ages in Down Syndrome (DS and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS. We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR. MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008 demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009 showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject.

  19. Morphological changes in the kidney of fetuses with Down syndrome

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    Michele Desogus

    2016-02-01

    Full Text Available Background: A variety of renal and urological abnormalities have been reported in subjects with Down syndrome (DS. With increased longevity, it appears that a growing number of these subjects presents chronic renal failure. Definition of underlying cause of renal failure could lead to the prevention of progressive renal dysfunction in these patients. The aim of this study was to improve the understanding of the morphological changes that occur in the kidney of fetuses with DS. Methods: To this end, 25 subjects were examined. Kidney sections were stained with H&E and digitally scanned. Subjects were subdivided into two groups: fetuses with DS (DS-fetuses, n = 11 with a gestational age ranging from 13 up to 21 weeks, and healthy fetuses (N-fetuses, n = 14 with a gestational age ranging from 9 up to 22 weeks. Results: DS-fetuses showed slightly larger glomeruli as compared to N-fetuses. Moreover, glomeruli in DS-fetuses group were characterized by an enlarged Bowman’s space as compared to glomeruli in N-fetuses (p = 0.0028. Differences in the nephrogenic zone width were also observed; DS-fetuses showed a greater width of this zone as compared with N-fetuses. Discussion: In conclusion, we found relevant morphological differences, which suggests delayed renal maturation. Furthermore, there was a significant increase in glomerular area and several glomeruli were morphologically abnormal. These harmful changes in the glomerular structure may result in a nephron deficit, which may be associated with development of renal diseases and hypertension later in life.Conclusions: We hypothesize that the observed morphological anomalies could have significant implications for both the short- and long-term renal health of subjects with DS.

  20. Accelerated development of object permanence in Down's syndrome infants.

    Science.gov (United States)

    Pasnak, C F; Pasnak, R

    1987-01-01

    Six infants with Down's syndrome, aged 3-19 months, were taught to solve object permanence problems. The instruction took place in the infants' homes and in a child development centre, and was conducted both by parents and by a child psychologist. Object permanence tasks ranging over stages 3-6 of the sensorimotor period of intelligence were utilized in the intervention, which lasted for up to 8 months. The infants were able to progress rather rapidly on these tasks. When the instruction was terminated most had mastered multiple visible displacements, which index the fifth stage of sensorimotor intelligence.

  1. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-01-01

    Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

  2. [Urgent surgical treatment of gastric volvulus related to upside-down stomach syndrome].

    Science.gov (United States)

    Hána, L; Kasalický, M; Koblihová, E; Suchánek, Š; Horažďovský, P; Ryska, M

    2015-12-01

    Upside-down stomach syndrome is a rare type of a large paraoesophageal hiatal hernia, which requires an immediate surgical treatment in case of incarceration. The authors present a case report of a 53-year-old male patient with gastric volvulus related to the upside-down stomach syndrome. Surgical treatment was complicated by an injury to distal oesophagus, which was successfully treated using a self-expandable metallic stent among other methods. Despite the complicated postoperative course with a necessity of reoperation, insertion of an oesophageal stent, thoracotomy for a mediastinal abscess and secondary healing of the laparotomy, the patient was discharged in a good condition with healed oesophageal perforation and laparotomy after 52 days.

  3. Reading Skills in Children with Down Syndrome: A Meta-Analytic Review

    Science.gov (United States)

    Naess, Kari-Anne B.; Melby-Lervag, Monica; Hulme, Charles; Lyster, Solveig-Alma Halaas

    2012-01-01

    The authors examine the reading profile in children with Down syndrome by comparing the nonword decoding skills in children with Down syndrome and typically developing children matched for word recognition level. Journal articles published before 04.05.2010 were identified by using the keyword Down* cross-referenced to "reading", "literacy",…

  4. Challenges and outcomes of cholesteatoma management in children with Down syndrome.

    Science.gov (United States)

    Ghadersohi, Saied; Bhushan, Bharat; Billings, Kathleen R

    2018-03-01

    The high incidence of chronic otitis media with effusion and Eustachian tube dysfunction in children with Down syndrome (DS) may predispose them to cholesteatoma formation. Establishing the diagnosis, choosing the appropriate operative intervention, and post-operative care can be challenging. To describe management strategies for cholesteatoma diagnosis, surgical treatment, and post-operative management in children with Down syndrome. Retrospective case series of 14 patients (17 total ears) with Down syndrome diagnosed with cholesteatoma over a 9-year period. A total of 14 patients with cholesteatoma (3 with bilateral disease) were analyzed. Thirteen ears (76.5%) had ≥2 tympanostomy tubes insertions prior to cholesteatoma diagnosis, and otorrhea and hearing loss were the most common presenting symptoms. Common pre-operative CT scan findings included mastoid sclerosis and ossicular erosion. The average age at first surgery was 9.8 years, and the average follow-up was 4.3 years. For acquired cholesteatoma, most ears were managed with canal wall up (CWU) approaches, but ultimately 6/15 (40.0%) required canal wall down (CWD) approaches. Postoperatively, 3 (20.0%) ears developed new tympanic membrane retraction pockets, but no recurrent cholesteatoma. Four (26.7%) ears developed recurrent disease, and 3 (20.0%) had residual disease at secondary procedures. Ossiculoplasty was performed in 4 ears. Twelve (70.6%) ears were rehabilitated with hearing aids or FM systems. The diagnosis of cholesteatoma in Down syndrome was associated with otorrhea, hearing loss, and CT scan findings of ossicular erosion and mastoid sclerosis. Most cases were managed with CWU surgical approaches. Hearing aid use was common post-operatively. Copyright © 2018 Elsevier B.V. All rights reserved.

  5. Joint attention in Down syndrome: A meta-analysis.

    Science.gov (United States)

    Hahn, Laura J; Loveall, Susan J; Savoy, Madison T; Neumann, Allie M; Ikuta, Toshikazu

    2018-07-01

    Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention". Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills. Copyright © 2018 Elsevier Ltd. All rights reserved.

  6. Changes in refractive characteristics in Japanese children with Down syndrome.

    Science.gov (United States)

    Horio, Junna; Kaneko, Hiroki; Takayama, Kei; Tuzuki, Kinichi; Kakihara, Hiroko; Iwami, Miou; Kawase, Yoshikatsu; Tsunekawa, Taichi; Yamaguchi, Naoko; Nonobe, Norie; Terasaki, Hiroko

    2018-03-01

    To investigate the refractive characteristics of Japanese children with Down syndrome. Retrospective study. The clinical records of refractive errors and ocular manifestations in children with Down syndrome who visited the Aichi Children's Health and Medical Center between November 2001 and January 2016 were retrospectively reviewed. The children were divided into the 3 following groups depending on their age: group 1 (≤ 6 years), group 2 (7-12 years), and group 3 (13-19 years). The collection of refractive error data was performed only for the right eyes and only once for each child, when the children were last examined with their pupils dilated. The study included 416 children (224 boys, 192 girls; average age, 6.1 ± 4.1 years). Group 3 had significantly stronger myopia than did groups 1 and 2. The mean cylindrical power in all the children was - 2.1 ± 1.2 diopters (D), and cylindrical power ≤ - 1.0 D (stronger than - 1.0 D) was seen in 366 eyes (88%). No significant difference in cylindrical power was found among the 3 groups. The spherical equivalent refraction showed an age-dependent myopic shift. Given that the amount of astigmatism did not show age-dependent differences, the age-dependent myopic shift could be due mainly to the change in spherical power.

  7. Clinical abnormalities, early intervention program of Down syndrome children: Queen Sirikit National Institute of Child Health experience.

    Science.gov (United States)

    Fuengfoo, Adidsuda; Sakulnoom, Kim

    2014-06-01

    Queen Sirikit National Institute of Child Health is a tertiary institute of children in Thailand, where early intervention programs have been provided since 1990 by multidisciplinary approach especially in Down syndrome children. This aim of the present study is to follow the impact of early intervention on the outcome of Down syndrome children. The school attendance number of Down syndrome children was compared between regular early intervention and non-regular early intervention. The present study group consists of 210 Down syndrome children who attended early intervention programs at Queen Sirikit National Institute of Child Health between June 2008 and January 2012. Data include clinical features, school attendance developmental quotient (DQ) at 3 years of age using Capute Scales Cognitive Adaptive Test/Scale (CAT/CLAMS). Developmental milestones have been recorded as to the time of appearance of gross motor, fine motor, language, personal-social development compared to those non-regular intervention patients. Of 210 Down syndrome children, 117 were boys and 93 were girls. About 87% received regular intervention, 68% attended speech training. Mean DQ at 3 years of age was 65. Of the 184 children who still did follow-up at developmental department, 124 children (59%) attended school: mainstream school children 78 (63%) and special school children 46 (37%). The mean age at entrance to school was 5.8 ± 1.4 years. The school attendance was correlated with maternal education and regular early intervention attendance. Regular early intervention starts have proven to have a positive effect on development. The school attendance number of Down syndrome children receiving regular early intervention was statistically and significantly higher than the number of Down syndrome children receiving non-regular early intervention was. School attendance correlated with maternal education and attended regularly early intervention. Regular early intervention together with maternal

  8. Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome

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    Veerasathpurush Allareddy

    2016-11-01

    Full Text Available Abstract Objective The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS and compare them with a neurotypical population. Methods This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3–25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero. The demographic characteristics between those with or without lateral cephalograms among all study participants were compared by Fisher’s exact tests. Results The study sample comprised of 27 participants with DS. Study subjects demonstrated a class III skeletal pattern. This was more pronounced in the older age groups as compared to younger age groups. Subjects also had an increased proportionate lower anterior face height to total facial height compared to normative standards. Gonial angles, mandibular plane angles, and airway measurements increased with age. Conclusions Patients with Down syndrome present typically with class III skeletal pattern and long lower anterior facial heights. In patients with Down syndrome, comprehensive phase of orthodontic treatment may be best initiated following cessation of growth.

  9. Preanesthetic Evaluation and Assessment of Children with Down's Syndrome

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    Letterio B. Santamaria

    2007-01-01

    Full Text Available During preoperative evaluation for anesthesia in the Down patient, it is important to focus attention on the functional conditions of the patient and systems that frequently show anomalies. One of the challenges of evaluating pre-operative conditions and potential risks in the Down patient is the lack of a gold-standard evaluation score; cervical spine abnormalities, reduced dimensions and malformations of the airways, neurological changes, respiratory and cardiac disease, as well as endocrinological and metabolic alterations. We suggest, as a possible method of evaluation for patients with mental retardation and possible malformations, a new scale which takes the functional and mental conditions into account: the Sensorial, Psychological, Anatomical, Biological, Operational and Surgical (SPABOS Compliance Score.

  10. Interview: from Down's syndrome to basic epigenetics and back again.

    Science.gov (United States)

    Lawrence, Jeanne; Telfer, Caroline

    2013-12-01

    Dr Jeanne Lawrence talks to Caroline Telfer, Commissioning Editor. Dr Jeanne Lawrence is an internationally recognized leader in the study of chromosome regulation by noncoding RNA and nuclear and genome organization. Her research bridges fundamental questions about genome regulation with clinical implications of recent advances in epigenetics. Her interest in chromosome structure and regulation has been a theme throughout her career and she has been honored for her work developing sensitive FISH technology for the detection of single copy genes, as well as RNAs. Her laboratory's publications include the initial demonstration of cell type-specific gene organization with nuclear subdomains; the novel biology of a noncoding RNA, XIST, which coats a whole X-chromosome to induce its silencing; and a new architectural role for a large noncoding RNA to scaffold a nuclear body. Her laboratory's work on epigenetic chromosome regulation in stem cells led to recent studies regarding unanticipated roles of repeat sequences in normal chromosome regulation and deregulation in cancer. Most recently, her laboratory has demonstrated a new approach to translate the basic mechanism of X-chromosome inactivation to correct a chromosomal dosage imbalance in patient-derived cells with trisomy 21 (Down's syndrome). Dr Lawrence has received awards from numerous agencies, including a Research Career Development Award from the National Center for Human Genome Research, career awards from the American Society of Cell Biology, the German Society for Biochemistry, the Muscular Dystrophy Association and a John Merck Fund Translational Research Award. She has served on the NIH National Advisory Council for Human Genome Research, numerous study sections and is currently a monitoring editor for the Journal of Cell Biology. Dr Lawrence has a BA in Biology and Music from Stephens College (MO, USA), a MS in Human Genetics and Genetic Counseling from Rutgers University (NJ, USA) and a PhD in

  11. Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects.

    Science.gov (United States)

    Zaki, Moushira E; El-Bassyouni, Hala T; Tosson, Angie M S; Youness, Eman; Hussein, Jihan

    Evidence of oxidative stress was reported in individuals with Down syndrome. There is a growing interest in the contribution of the immune system in Down syndrome. The aim of this study is to evaluate the coenzyme Q10 and selected pro-inflammatory markers such as interleukin 6 and tumor necrosis factor α in children with Down syndrome. Eighty-six children (5-8 years of age) were enrolled in this case-control study from two public institutions. At the time of sampling, the patients and controls suffered from no acute or chronic illnesses and received no therapies or supplements. The levels of interleukin 6, tumor necrosis factor α, coenzyme Q10, fasting blood glucose, and intelligence quotient were measured. Forty-three young Down syndrome children and forty-three controls were included over a period of eight months (January-August 2014). Compared with the control group, the Down syndrome patients showed significant increase in interleukin 6 and tumor necrosis factor α (p=0.002), while coenzyme Q10 was significantly decreased (p=0.002). Also, body mass index and fasting blood glucose were significantly increased in patients. There was a significantly positive correlation between coenzyme Q10 and intelligence quotient levels, as well as between interleukin 6 and tumor necrosis factor α. Interleukin 6 and tumor necrosis factor α levels in young children with Down syndrome may be used as biomarkers reflecting the neurodegenerative process in them. Coenzyme Q10 might have a role as a good supplement in young children with Down syndrome to ameliorate the neurological symptoms. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  12. Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects

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    Moushira E. Zaki

    Full Text Available Abstract: Objective: Evidence of oxidative stress was reported in individuals with Down syndrome. There is a growing interest in the contribution of the immune system in Down syndrome. The aim of this study is to evaluate the coenzyme Q10 and selected pro-inflammatory markers such as interleukin 6 and tumor necrosis factor α in children with Down syndrome. Methods: Eighty-six children (5-8 years of age were enrolled in this case-control study from two public institutions. At the time of sampling, the patients and controls suffered from no acute or chronic illnesses and received no therapies or supplements. The levels of interleukin 6, tumor necrosis factor α, coenzyme Q10, fasting blood glucose, and intelligence quotient were measured. Results: Forty-three young Down syndrome children and forty-three controls were included over a period of eight months (January-August 2014. Compared with the control group, the Down syndrome patients showed significant increase in interleukin 6 and tumor necrosis factor α (p = 0.002, while coenzyme Q10 was significantly decreased (p = 0.002. Also, body mass index and fasting blood glucose were significantly increased in patients. There was a significantly positive correlation between coenzyme Q10 and intelligence quotient levels, as well as between interleukin 6 and tumor necrosis factor α. Conclusion: Interleukin 6 and tumor necrosis factor α levels in young children with Down syndrome may be used as biomarkers reflecting the neurodegenerative process in them. Coenzyme Q10 might have a role as a good supplement in young children with Down syndrome to ameliorate the neurological symptoms.

  13. The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone.

    Science.gov (United States)

    Dressler, Anastasia; Perelli, Valentina; Bozza, Margherita; Bargagna, Stefania

    2011-01-01

    The autistic phenotype in Down syndrome (DS) is marked by a characteristic pattern of stereotypies, anxiety and social withdrawal. Our aim was to study adaptive behaviour in DS with and without autistic comorbidity using the Vineland Adaptive Behaviour Scales (VABS), the Childhood Autism Rating Scales (CARS) and the DSM IV-TR criteria. We assessed 24 individuals and established three groups: Down syndrome (DS), DS and autistic disorder (DS-AD), and autistic disorder (AD). The DS and DS-AD groups showed statistically significantly similar strengths on the VABS (in receptive and domestic skills). The DS and DS-AD subjects also showed similar strengths on the CARS (in imitation and relating), differing significantly from the AD group. The profile of adaptive functioning and symptoms in DS-AD seemed to be more similar to that found in DS than to the profile emerging in AD. We suggest that the comorbidity of austistic symptoms in DS hampered the acquisition of adaptive skills more than did the presence of DS alone.

  14. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    OpenAIRE

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-01-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years ...

  15. [Transient myeloproliferation and acute myeloid leukemia in infants with Down's syndrome].

    Science.gov (United States)

    Creutzig, U; Ritter, J; Vormoor, J; Eschenbach, C; Dickerhoff, R; Burdach, S; Scheel-Walter, H G; Kühl, J; Schellong, G

    1990-01-01

    Transient neonatal myeloproliferative disorders (TMD's) indistinguishable from acute leukaemia by clinical and morphological criteria have been described in neonates with Down's syndrome. To analyse its clinical significance, 10 infants under 1 year of age presenting with Down's syndrome and the morphological picture of acute myelogenous leukaemia were reviewed. 3 of these children had true AML leading to death after 2, 8 and 11 months. In the other 7 children the diagnosis TMD was suggested as spontaneous or in one case interferon-induced remission occurred within 4 to 25 weeks after diagnosis. The interferon-treated patient died of SIDS at the age of 11 months. Another one of the TMD children developed fatal erythroleukaemia at the age of 2 years. Regarding initial clinical and haematological parameters, TMD was indistinguishable from true congenital leukaemie. In all patients classification according to the FAB criteria was difficult, as mainly undifferentiated or poorly differentiated myeloid blasts were seen, sometimes with erythro- or megakaryocytic features. Because of the difficulties in the differential diagnosis of TMD and true AML it is recommended to delay specific cytostatic therapy in neonates with Down's syndrome, until definite progression of the leukaemic process is observed or cytogenetic analyses suggesting true AML are available.

  16. The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

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    Emily Lorang

    2017-12-01

    Full Text Available Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. Methods Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule – Second Edition. Results We did not find between-group differences (Down syndrome compared to fragile X syndrome in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with

  17. Age-Related Neurodegeneration and Memory Loss in Down Syndrome

    Directory of Open Access Journals (Sweden)

    Jason P. Lockrow

    2012-01-01

    Full Text Available Down syndrome (DS is a condition where a complete or segmental chromosome 21 trisomy causes variable intellectual disability, and progressive memory loss and neurodegeneration with age. Many research groups have examined development of the brain in DS individuals, but studies on age-related changes should also be considered, with the increased lifespan observed in DS. DS leads to pathological hallmarks of Alzheimer's disease (AD by 40 or 50 years of age. Progressive age-related memory deficits occurring in both AD and in DS have been connected to degeneration of several neuronal populations, but mechanisms are not fully elucidated. Inflammation and oxidative stress are early events in DS pathology, and focusing on these pathways may lead to development of successful intervention strategies for AD associated with DS. Here we discuss recent findings and potential treatment avenues regarding development of AD neuropathology and memory loss in DS.

  18. Maternal responsivity in mothers of young children with Down syndrome.

    Science.gov (United States)

    Sterling, Audra; Warren, Steven F

    2014-10-01

    The purpose of this study was to examine maternal responsivity and directive behaviors in mothers of children with Down syndrome (DS). Participants included 22 mothers with a young child with DS compared to 22 mothers of chronologically age-matched typically developing (TD) children using a cross-sectional design. The dyads participated in videotaped structured activities that were coded for responsive and directive behaviors. RESULTS indicated that the mothers of children with DS used a more facilitative style with the older children while these behaviors decreased with older children with TD; one directive behavior, request for behavioral comply, increased with the older children with DS. The mothers of children with DS adapted their parenting style to be facilitative of their children's linguistic development.

  19. Actinomycetoma by Nocardia brasiliensis in a girl with Down syndrome.

    Science.gov (United States)

    Pardo, Martha; Bonifaz, Alexandro; Valencia, Adriana; Araiza, Javier; Mejia, Silvia Anett; Mena-Cedillos, Carlos

    2008-08-15

    We describe the case of a 14-year-old girl with Down syndrome and a large cutaneous plaque localized to the right neck and shoulder that had enlarged over five years after a minor traumatic injury. The plaque was characterized by numerous inflammatory nodules and fistulae that secreted purulent discharge. Nocardia grains were identified and Nocardia brasiliensis was identified by culture. Histopathology examination showed a chronic inflammatory infiltrate with granuloma development. The treatment scheme was with Diaminodiphenylsulfone 50/mg/d and Trimethoprim-Sulfamethoxazole 800/160 mg BID. Therapy was continued over 1(1/2) years, with a tapering dose. After 2(1/2) years of continuous treatment, clinical and microbiological healing was achieved.

  20. β-Secretases, Alzheimer’s Disease, and Down Syndrome

    Directory of Open Access Journals (Sweden)

    Robin L. Webb

    2012-01-01

    Full Text Available Individuals with Down Syndrome (DS, or trisomy 21, develop Alzheimer’s disease (AD pathology by approximately 40 years of age. Chromosome 21 harbors several genes implicated in AD, including the amyloid precursor protein and one homologue of the β-site APP cleaving enzyme, BACE2. Processing of the amyloid precursor protein by β-secretase (BACE is the rate-limiting step in the production of the pathogenic Aβ peptide. Increased amounts of APP in the DS brain result in increased amounts of Aβ and extracellular plaque formation beginning early in life. BACE dysregulation potentially represents an overlapping biological mechanism with sporadic AD and a common therapeutic target. As the lifespan for those with DS continues to increase, age-related concerns such as obesity, depression, and AD are of growing concern. The ability to prevent or delay the progression of neurodegenerative diseases will promote healthy aging and improve quality of life for those with DS.

  1. The impact of Down syndrome screening on Taiwanese Down syndrome births: a nationwide retrospective study and a screening result from a single medical centre.

    Directory of Open Access Journals (Sweden)

    Shin-Yu Lin

    Full Text Available A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down syndrome screening on the Taiwanese Down syndrome live birth rate. In addition, the results of first-trimester Down syndrome screening between 2006 and 2011, and of second-trimester quadruple testing between 2008 and 2011, were obtained from the National Taiwan University Hospital. All Taiwanese infants born between 2001 and 2010 were included in the first part of the analysis, and women receiving first-trimester Down syndrome screening or second-trimester quadruple testing from the National Taiwan University Hospital were included in the second part. The live birth rate of infants with Down syndrome, per 100 000 live births, decreased from 22.28 in 2001 to 7.79 in 2010. The ratio of liveborn DS to total DS was 48.74% in 2001, and then decreased to 25.88% in 2006, when first-trimester screening was widely introduced in Taiwan. This ratio dropped to 20.64% in 2008, when the second-trimester quadruple test was implemented. The overall positive rate in first-trimester screening in the National Taiwan University Hospital was 3.1%, with a Down syndrome detection rate of 100%; the quadruple test had values of 9.0% and 75%, respectively. The use of first-trimester screening and the second-trimester quadruple test may be responsible for the marked decrease in the Taiwanese Down syndrome live birth rate observed between 2001 and 2010.

  2. Emotion Recognition in Adolescents with Down Syndrome: A Nonverbal Approach

    Directory of Open Access Journals (Sweden)

    Régis Pochon

    2017-05-01

    Full Text Available Several studies have reported that persons with Down syndrome (DS have difficulties recognizing emotions; however, there is insufficient research to prove that a deficit of emotional knowledge exists in DS. The aim of this study was to evaluate the recognition of emotional facial expressions without making use of emotional vocabulary, given the language problems known to be associated with this syndrome. The ability to recognize six emotions was assessed in 24 adolescents with DS. Their performance was compared to that of 24 typically developing children with the same nonverbal-developmental age, as assessed by Raven’s Progressive Matrices. Analysis of the results revealed no global difference; only marginal differences in the recognition of different emotions appeared. Study of the developmental trajectories revealed a developmental difference: the nonverbal reasoning level assessed by Raven’s matrices did not predict success on the experimental tasks in the DS group, contrary to the typically developing group. These results do not corroborate the hypothesis that there is an emotional knowledge deficit in DS and emphasize the importance of using dynamic, strictly nonverbal tasks in populations with language disorders.

  3. Bone mineral density in adults with Down's syndrome

    International Nuclear Information System (INIS)

    Angelopoulou, N.; Souftas, V.; Mandroukas, K.; Sakadamis, A.

    1999-01-01

    The objective of the study was to elucidate if individuals with Down's syndrome (DS) are likely to experience an increased risk of osteoporosis with advancing age, in addition to precocious aging and their skeletal anomalies. Bone mineral density (BMD) was measured in 22 home-reared adults (9 males and 13 females; age 26.22 ± 4.45 and 23.65 ± 3.23 years, respectively) by dual energy X-ray absorptiometry (DXA). The BMD of the second to fourth lumbar vertebrae was measured in posteroanterior projection and the mean density expressed as grams per square centimetre. The BMD of DS individuals was compared with 27 control subjects (12 males and 15 females) of the same age (age 24.16 ± 3.46 and 23.86 ± 2.92 years, respectively). The results showed that the BMD of the lumbar spine in the males as well as in the females with DS was significantly lower than that in their control counterparts (p < 0.001). Comparing the DS males with the females, the BMD was lower in the males at a level of 9 %. Factors that contribute to this disorder may be mainly the muscular hypotonia, the sedentary lifestyle and the accompanying diseases which frequently observed in the syndrome. Future studies must be focused on the biochemistry of bone metabolism, the evaluation of gonadal, thyroid and parathyroid function, and the genes of the extra chromosome 21. (orig.)

  4. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

    Directory of Open Access Journals (Sweden)

    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  5. Developing an Informant Questionnaire for Cognitive Abilities in Down Syndrome: The Cognitive Scale for Down Syndrome (CS-DS.

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    Carla M Startin

    Full Text Available Down syndrome (DS is the most common genetic cause of intellectual disability (ID. Abilities relating to executive function, memory and language are particularly affected in DS, although there is a large variability across individuals. People with DS also show an increased risk of developing dementia. While assessment batteries have been developed for adults with DS to assess cognitive abilities, these batteries may not be suitable for those with more severe IDs, dementia, or visual / hearing difficulties. Here we report the development of an informant rated questionnaire, the Cognitive Scale for Down Syndrome (CS-DS, which focuses on everyday abilities relating to executive function, memory and language, and is suitable for assessing these abilities in all adults with DS regardless of cognitive ability. Complete questionnaires were collected about 128 individuals with DS. After final question selection we found high internal consistency scores across the total questionnaire and within the executive function, memory and language domains. CS-DS scores showed a wide range, with minimal floor and ceiling effects. We found high interrater (n = 55 and test retest (n = 36 intraclass correlations. CS-DS scores were significantly lower in those aged 41+ with significant cognitive decline compared to those without decline. Across all adults without cognitive decline, CS-DS scores correlated significantly to measures of general abilities. Exploratory factor analysis suggested five factors within the scale, relating to memory, self-regulation / inhibition, self-direction / initiation, communication, and focussing attention. The CS-DS therefore shows good interrater and test retest reliability, and appears to be a valid and suitable informant rating tool for assessing everyday cognitive abilities in a wide range of individuals with DS. Such a questionnaire may be a useful outcome measure for intervention studies to assess improvements to cognition, in

  6. Down's syndrome and inflammatory bowel disease: is there a real link?

    Directory of Open Access Journals (Sweden)

    Raquel Souto-Rodríguez

    Full Text Available Down's syndrome (DS is a genetic disease that has been associated with several immune and autoimmune diseases, including digestive and liver diseases, like celiac disease, autoimmune chronic hepatitis and sclerosing cholangitis. Despite in inflammatory bowel disease (IBD pathogenesis, genetics and immune mechanism play an important role, the association among DS and IBD has been poorly studied. Data about IBD diagnosis in DS patients is very scarce with only some individual case-reports. We report three cases of DS patients diagnosed of IBD and we discuss the possible association of these two entities.

  7. Lowering beta-amyloid levels rescues learning and memory in a Down syndrome mouse model.

    Directory of Open Access Journals (Sweden)

    William J Netzer

    Full Text Available beta-amyloid levels are elevated in Down syndrome (DS patients throughout life and are believed to cause Alzheimer's disease (AD in adult members of this population. However, it is not known if beta-amyloid contributes to intellectual disability in younger individuals. We used a gamma-secretase inhibitor to lower beta-amyloid levels in young mice that model DS. This treatment corrected learning deficits characteristic of these mice, suggesting that beta-amyloid-lowering therapies might improve cognitive function in young DS patients.

  8. Information about prenatal screening for Down syndrome: ethnic differences in knowledge

    NARCIS (Netherlands)

    Fransen, Mirjam P.; Wildschut, Hajo; Vogel, Ineke; Mackenbach, Johan; Steegers, Eric; Essink-Bot, Marie-Louise

    2009-01-01

    To evaluate the provision of information about prenatal screening for Down syndrome to women of Dutch, Turkish and Surinamese origins, and to examine the effects of this provision on ethnic differences in knowledge about Down syndrome and prenatal screening. The study population consisted of 105

  9. Speech Intelligibility and Childhood Verbal Apraxia in Children with Down Syndrome

    Science.gov (United States)

    Kumin, Libby

    2006-01-01

    Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily…

  10. Stuttering Treatment for a School-Age Child with Down Syndrome: A Descriptive Case Report

    Science.gov (United States)

    Harasym, Jessica; Langevin, Marilyn

    2012-01-01

    Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

  11. Treatment of Hyperthyroidism in Down Syndrome: Case Report and Review of Literature.

    Science.gov (United States)

    Ali, Fawzi E.; Al-Busairi, Waleed A.; Al-Mulla, Fatema A.

    1999-01-01

    A case of an institutionalized adult male with Down syndrome and hyperthyroidism is reported. After treatment with radioactive iodine, he was found to be markedly hypothyroid when he was reviewed 11 weeks later. Three treatment options for hyperthyroidism in Down syndrome are reviewed: surgery, medical treatments, and radiotherapy. (Author/CR)

  12. Are the Cognitive Functions of Children with Down Syndrome Related to Their Participation?

    Science.gov (United States)

    Rihtman, Tanya; Tekuzener, Esti; Parush, Shula; Tenenbaum, Alex; Bachrach, Steven J.; Ornoy, Asher

    2010-01-01

    Aim: There is a lack of investigation into the functional developmental profile of children with Down syndrome. On the basis of current international health paradigms, the purpose of this study was to assess the developmental profile of these children. Method: Sixty children (33 males, 27 females) with Down syndrome (age range 6-16y; mean age 9y…

  13. Emotion Recognition in Children with Down Syndrome: Influence of Emotion Label and Expression Intensity

    Science.gov (United States)

    Cebula, Katie R.; Wishart, Jennifer G.; Willis, Diane S.; Pitcairn, Tom K.

    2017-01-01

    Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched,…

  14. Age and Pattern of Intellectual Decline among Down Syndrome and Other Mentally Retarded Adults.

    Science.gov (United States)

    Gibson, David; And Others

    1988-01-01

    A study of 18 Down Syndrome and 18 other mentally retarded adults found evidence of a significant erosion of Wechsler Intelligence Scale for Children scores from the third to fourth decades of life. The Block Design subtest was especially vulnerable to performance decline with age in the Down Syndrome adults. (Author/JDD)

  15. Gestures in Prelinguistic Turkish Children with Autism, Down Syndrome, and Typically Developing Children

    Science.gov (United States)

    Toret, Gokhan; Acarlar, Funda

    2011-01-01

    The purpose of this study was to examine gesture use in Turkish children with autism, Down syndrome, and typically developing children. Participants included 30 children in three groups: Ten children with Down syndrome, ten children with autism between 24-60 months of age, and ten typically developing children between 12-18 months of age.…

  16. Children with Down Syndrome: Implications for Assessment and Intervention in the School

    Science.gov (United States)

    Davis, Andrew S.

    2008-01-01

    Down syndrome is the most common genetic cause of mental retardation and one of the most frequently occurring neurodevelopmental genetic disorders in children. Children with Down syndrome typically experience a constellation of symptomology that includes developmental motor and language delay, specific deficits in verbal memory, and broad…

  17. A Study of Early Fine Motor Intervention in Down's Syndrome Children

    Science.gov (United States)

    Aparicio, Teresa Sanz; Balana, Javier Menendez

    2009-01-01

    The marked delay in acquisition of fine motor skills in trisomic-21/Down's syndrome children is undeniable. In this study, we began with an affirmation that the cause of this deficit could be found in a different environment for which early intervention is essential. A sample of 30 Down's syndrome children was used to study at different ages: six…

  18. Peer-Related Social Competence of Young Children with Down Syndrome

    Science.gov (United States)

    Guralnick, Michael J.; Connor, Robert T.; Johnson, L. Clark

    2011-01-01

    The peer-related social competence of children with Down syndrome was examined in an observational study. Dyadic interactions with peers of children with Down syndrome were compared with the dyadic interactions of matched groups of typically developing children and with playmates differing in both familiarity and social skills. Results suggested…

  19. Study of Different Social Rewards Used in Down's Syndrome Children's Early Stimulation

    Science.gov (United States)

    Sanz, Teresa; Menendez, Javier; Rosique, Teresa

    2011-01-01

    This article describes the results obtained with two types of social rewards used in early stimulation of Down's syndrome children. In the study we focus on the efficiency of the employment of the social rewards or reinforcements used in the early stimulation, bearing in mind that the children with Down's syndrome possess a social development…

  20. Exploring the Participation of Children with Down Syndrome in Handwriting without Tears

    Science.gov (United States)

    Patton, Sandra; Hutton, Eve

    2017-01-01

    Children with Down Syndrome typically experience difficulties with attention to task and lack motivation when learning to write. This article provides an evaluation of the HWT (Handwriting Without Tears) method applied as an intervention to promote handwriting among children with Down Syndrome attending mainstream school in the Republic of…

  1. Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome

    NARCIS (Netherlands)

    Blom, Nico A.; Ottenkamp, Jaap; Wenink, Arnold G. C.; Gittenberger-de Groot, Adriana C.

    2003-01-01

    Data on the morphogenesis of atrioventricular septal defect (AVSD) in Down syndrome are lacking to support molecular studies on Down syndrome heart critical region. Therefore, we studied the development of complete AVSD in human embryos and fetuses with trisomy 21 using 3-dimensional graphic

  2. Face Processing and Facial Emotion Recognition in Adults with Down Syndrome

    Science.gov (United States)

    Barisnikov, Koviljka; Hippolyte, Loyse; Van der Linden, Martial

    2008-01-01

    Face processing and facial expression recognition was investigated in 17 adults with Down syndrome, and results were compared with those of a child control group matched for receptive vocabulary. On the tasks involving faces without emotional content, the adults with Down syndrome performed significantly worse than did the controls. However, their…

  3. Identifying the Barriers and Facilitators to Participation in Physical Activity for Children with Down Syndrome

    Science.gov (United States)

    Barr, M.; Shields, N.

    2011-01-01

    Background: Many children with Down syndrome do not undertake the recommended amount of daily physical activity. The aim of this study was to explore the barriers and facilitators to physical activity for this group. Methods: Eighteen in-depth interviews were conducted with 20 parents (16 mothers, 4 fathers) of children with Down syndrome aged…

  4. Links between Sleep and Daytime Behaviour Problems in Children with Down Syndrome

    Science.gov (United States)

    Esbensen, A. J.; Hoffman, E. K.; Beebe, D. W.; Byars, K. C.; Epstein, J.

    2018-01-01

    Background: In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and…

  5. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults with Down Syndrome

    Science.gov (United States)

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley, T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30-53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure…

  6. Auditory and Visual Memory Span: Cognitive Processing by TMR Individuals with Down Syndrome or Other Etiologies.

    Science.gov (United States)

    Varnhagen, Connie K.; And Others

    1987-01-01

    Auditory and visual memory span were examined with 13 Down Syndrome and 15 other trainable mentally retarded young adults. Although all subjects demonstrated relatively poor auditory memory span, Down Syndrome subjects were especially poor at long-term memory access for visual stimulus identification and short-term storage and processing of…

  7. Tardive or Atypical Tourette's Disorder in a Population with Down Syndrome?

    Science.gov (United States)

    Myers, Beverly; Pueschel, Siegfried M.

    1995-01-01

    In a population of 425 individuals with Down's syndrome, 5 persons (1.2%) were identified as having Tourette's disorder. The lack of interrelationship between Down's syndrome and Tourette's disorder argues against an atypical Tourette's disorder. Diagnoses of tardive Tourette's disorder were based on absence of family history of Tourette's, late…

  8. The Impact of Periodontal Disease on the Quality of Life of Individuals with Down Syndrome

    Science.gov (United States)

    Loureiro, Ana Cristina Amaral; Costa, Fernando Oliveira; da Costa, Jose Eustaquio

    2007-01-01

    Objective: This study aimed to determine the prevalence of periodontal disease among children and adolescents with Down syndrome and the possible repercussions of such pathology in the quality of life of the group in question. Method: The sample consists of 93 individuals with Down syndrome 6-20 years old, living in Brazil (Minas Gerais).…

  9. A Study of Auditory Preferences in Nonhandicapped Infants and Infants with Down's Syndrome.

    Science.gov (United States)

    Glenn, Sheila M.; And Others

    1981-01-01

    Eleven infants with Down's syndrome and 10 of 11 nonhandicapped infants operated an automatic device which enabled them to choose to listen to nursery rhymes sung or played on musical instruments. Both groups preferred the singing, and the Down's Syndrome infants had much longer response durations for the more complex auditory stimuli. (Author/DB)

  10. Understanding of Parents and Adults on the Down Syndrome Female Sexual Reproductive Health

    Science.gov (United States)

    Zhagan, Madhya

    2013-01-01

    The purpose of this study is to determine the understanding of reproductive health among parents and female adolescents with Down syndrome. This cross-sectional study involved 22 parents and 22 female adolescents with Down syndrome in Kuala Lumpur, Malaysia. The parents were required to fill up the socio-demographic information in questionnaire…

  11. Employment in Adults with Down Syndrome in the United States: Results from a National Survey

    Science.gov (United States)

    Kumin, Libby; Schoenbrodt, Lisa

    2016-01-01

    Background: There is no current data about employment/unemployment of adults with Down syndrome in the United States. The data that exists includes adults with Down syndrome as part of the larger group of people with disabilities or people with intellectual disability. Method: This study used a survey to investigate paid and volunteer employment,…

  12. Role of Verbal Memory in Reading Text Comprehension of Individuals with Down Syndrome

    Science.gov (United States)

    Levorato, Maria Chiara; Roch, Maja; Florit, Elena

    2011-01-01

    This study analyzed the relationship between verbal memory and reading text comprehension in individuals with Down syndrome. The hypothesis that verbal memory provides unique contribution to reading text comprehension after controlling for verbal skills was tested. Twenty-three individuals with Down syndrome (ages 11 years, 2 months-18 years, 1…

  13. How Do Object Size and Rigidity Affect Reaching and Grasping in Infants with Down Syndrome?

    Science.gov (United States)

    de Campos, Ana Carolina; Francisco, Kelly Regina; Savelsbergh, Geert J. P.; Rocha, Nelci Adriana Cicuto Ferreira

    2011-01-01

    Reaching and grasping skills have been described to emerge from a dynamic interaction between intrinsic and extrinsic factors. The purpose of the present study was to investigate the interaction between such an intrinsic factor, Down syndrome, and extrinsic factors, such as different object properties. Seven infants with Down syndrome and seven…

  14. Mother-Child Play: Children with Down Syndrome and Typical Development

    Science.gov (United States)

    Venuti, P.; de Falco, S.; Esposito, G.; Bornstein, Marc H.

    2009-01-01

    Child solitary and collaborative mother-child play with 21 children with Down syndrome and 33 mental-age-matched typically developing children were compared. In solitary play, children with Down syndrome showed less exploratory but similar symbolic play compared to typically developing children. From solitary to collaborative play, children with…

  15. Assessment of Prevalence of Persons with Down Syndrome: A Theory-Based Demographic Model

    Science.gov (United States)

    de Graaf, Gert; Vis, Jeroen C.; Haveman, Meindert; van Hove, Geert; de Graaf, Erik A. B.; Tijssen, Jan G. P.; Mulder, Barbara J. M.

    2011-01-01

    Background: The Netherlands are lacking reliable empirical data in relation to the development of birth and population prevalence of Down syndrome. For the UK and Ireland there are more historical empirical data available. A theory-based model is developed for predicting Down syndrome prevalence in the Netherlands from the 1950s onwards. It is…

  16. Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals with Down Syndrome

    Science.gov (United States)

    Cuskelly, Monica

    2016-01-01

    The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data…

  17. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    Science.gov (United States)

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-01-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years and in 20 healthy men aged 45-64 years. All subjects were at rest with eyes covered and ears plugged. Mean hemispheric CMRglc in the older Down's syndrome subjects was significantly less, by 23%, than in the young Down's syndrome group; statistically significant decreases in regional metabolism (rCMRglc) also were present in all lobar regions. Comparison of the younger control group with the older control group showed no difference in CMRglc or any rCMRglc (p greater than 0.05). Assessment of language, visuospatial ability, attention and memory showed significant reductions in test scores of the old as compared with the young Down's syndrome subjects. These results show that significant age differences in CMRglc and rCMRglc occur in Down's syndrome but not in healthy controls, and that, although only some older Down's syndrome subjects are demented, significant age reductions in neuropsychologic variables occur in all of them. PMID:2956363

  18. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    Science.gov (United States)

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-06-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years and in 20 healthy men aged 45-64 years. All subjects were at rest with eyes covered and ears plugged. Mean hemispheric CMRglc in the older Down's syndrome subjects was significantly less, by 23%, than in the young Down's syndrome group; statistically significant decreases in regional metabolism (rCMRglc) also were present in all lobar regions. Comparison of the younger control group with the older control group showed no difference in CMRglc or any rCMRglc (p greater than 0.05). Assessment of language, visuospatial ability, attention and memory showed significant reductions in test scores of the old as compared with the young Down's syndrome subjects. These results show that significant age differences in CMRglc and rCMRglc occur in Down's syndrome but not in healthy controls, and that, although only some older Down's syndrome subjects are demented, significant age reductions in neuropsychologic variables occur in all of them.

  19. Responsiveness of the Test of Basic Motor Skills of Children with Down Syndrome

    Science.gov (United States)

    van den Heuvel, Marieke E.; de Jong, Inge; Lauteslager, Peter E. M.; Volman, M. J. M.

    2009-01-01

    The aim of this study was to examine the responsiveness of the Test of Basic Motor Skills for Children with Down Syndrome (BMS). Forty-one children with Down Syndrome, 3 to 36 months of age, participated in the study. Gross motor skills were assessed three times using the BMS and the Gross Motor Function Measure (GMFM) before and after a baseline…

  20. Down Syndrome and Dementia: Is Depression a Confounder for Accurate Diagnosis and Treatment?

    Science.gov (United States)

    Wark, Stuart; Hussain, Rafat; Parmenter, Trevor

    2014-01-01

    The past century has seen a dramatic improvement in the life expectancy of people with Down syndrome. However, research has shown that individuals with Down syndrome now have an increased likelihood of early onset dementia. They are more likely than their mainstream peers to experience other significant co-morbidities including mental health…

  1. Problem behavior of individuals with down syndrome in a nationwide cohort assessed in late adolescence

    NARCIS (Netherlands)

    Gameren-Oosterom, H.B.M.; Fekkes, M.; Wouwe, J.P. van; Detmar, S.B.; Oudesluys-Murphy, A.M.; Verkerk, P.H.

    2013-01-01

    OBJECTIVE: To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability. STUDY DESIGN: Cross-sectional data of a Dutch nationwide cohort of Down syndrome children aged 16-19 years were collected using a written parental

  2. Tetralogy of fallot in down syndrome (trisomy 21) - an uncommon association

    International Nuclear Information System (INIS)

    Rashid, A.K.M.M.; Basu, B.; Rahman, M.M.

    2009-01-01

    Down Syndrome (trisomy 21) is the common disorder among chromosomal anomalies. This is frequently associated with congenital a cyanotic heart disease. Tetralogy of fallot is an uncommon event in the trisomy 21. Tetralogy of fallot presents with cyanosis usually in the later part of infancy, but cyanosis is present since birth if Tetralogy of Fallot is accompanied with Down Syndrome. (author)

  3. Demographic differences in Down syndrome livebirths in the US from 1989 to 2006.

    Science.gov (United States)

    Egan, James F X; Smith, Kathleen; Timms, Diane; Bolnick, Jay M; Campbell, Winston A; Benn, Peter A

    2011-04-01

    To explore demographic differences in Down syndrome livebirths in the United States. Using National Center for Health Statistics (NCHS) birth certificate data from 1989 to 2006 we analyzed Down syndrome livebirths after correcting for under-reporting. We created six subsets based on maternal age (15-34 and 35-49 years old); US regions, that is, Northeast, Midwest, South and West; marital status, (married, unmarried); education, ( ≤ 12 years, ≥ 13 years); race, (white, black); and Hispanic ethnicity, (non-Hispanic, Hispanic). We estimated expected Down syndrome livebirths assuming no change in birth certificate reporting. The percentage of expected Down syndrome livebirths actually born was calculated by year. There were 72 613 424 livebirths from 1989 to 2006. There were 122 519 Down syndrome livebirths expected and 65 492 were actually born. The Midwest had the most expected Down syndrome livebirths actually born (67.6%); the West was lowest (44.4%). More expected Down syndrome livebirths were born to women who were 15 to 34 years old (61 vs 43.8%) and to those with ≤ 12 years education (60.4 vs 46.9%), white race (56.6 vs 37%), unmarried (56.0 vs 52.5%), and of Hispanic ethnicity (55.0 vs 53.3%). The percentage of expected Down syndrome livebirths actually born varies by demographics. Copyright © 2011 John Wiley & Sons, Ltd.

  4. Mental Health Problems in Adults with Down Syndrome and Their Association with Life Circumstances

    Science.gov (United States)

    Mallardo, Mariarosa; Cuskelly, Monica; White, Paul; Jobling, Anne

    2014-01-01

    This study focused on current life circumstances, previous life events, and engagement with productive and enjoyable activities. It examined the association of these variables with mental health problems and mood in a cohort of young adults with Down syndrome. Participants were 49 adults with Down syndrome (age range 20-31 years) and their…

  5. Effects of Sampling Context on Spontaneous Expressive Language in Males with Fragile X Syndrome or Down Syndrome

    Science.gov (United States)

    Kover, Sara T.; McDuffie, Andrea; Abbeduto, Leonard; Brown, W. Ted

    2012-01-01

    Purpose: In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. Method: Participants with fragile X syndrome (n = 27), ages 10-17 years, were matched groupwise on…

  6. Investigation on Down's syndrome in the children living in high background radiation area

    International Nuclear Information System (INIS)

    Zha Yongru

    1989-01-01

    After the survey in 1975 and 1979 of Down's syndrome in the children living in high background radiation area, we made a follow-up investigation in 1985 and 1986. All the obtained data are analysed. 25258 children in high background radiation area were examined and 22 children with Down's syndrome were identified, the morbidity rate being 0.87%. 21837 children in control area were examined and four children with Down's syndrome were identified, the morbidity being 0.18%. There was a statistically significant difference between the two groups. It was noted that the occurrence of Down's syndrome was related to the maternal age but there was no evidence suggesting a close relationship between high background radiation and the development of Down's syndrome

  7. Current demand of paediatric otolaryngology input for children with Down's syndrome in a tertiary referral centre.

    Science.gov (United States)

    Khalid-Raja, M; Tzifa, K

    2016-11-01

    This study aimed to evaluate the activity of paediatric otolaryngology services required for children with Down's syndrome in a tertiary referral centre. A review of the paediatric otolaryngology input for children with Down's syndrome was performed; data were obtained from the coding department for a two-year period and compared with other surgical specialties. Between June 2011 and May 2013, 106 otolaryngology procedures were performed on children with Down's syndrome. This compared to 87 cardiac and 81 general paediatrics cases. The most common pathologies in children with Down's syndrome were obstructive sleep apnoea, otitis media, hearing loss and cardiac disease. The most common otolaryngology procedures performed were adenoidectomy, tonsillectomy, grommet insertion and bone-anchored hearing aid implant surgery. ENT manifestations of Down's syndrome are common. Greater provisions need to be made to streamline the otolaryngology services for children and improve transition of care to adult services.

  8. Violence: heightened brain attentional network response is selectively muted in Down syndrome.

    Science.gov (United States)

    Anderson, Jeffrey S; Treiman, Scott M; Ferguson, Michael A; Nielsen, Jared A; Edgin, Jamie O; Dai, Li; Gerig, Guido; Korenberg, Julie R

    2015-01-01

    The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural responses to potential threat differ in Down syndrome is not known. We performed functional MRI scans of 15 adolescent and adult Down syndrome and 14 typically developing individuals, group matched by age and gender, during 50 min of passive cartoon viewing. Brain activation to auditory and visual features, violence, and presence of the protagonist and antagonist were compared across cartoon segments. fMRI signal from the brain's dorsal attention network was compared to thematic and violent events within the cartoons between Down syndrome and control samples. We found that in typical development, the brain's dorsal attention network was most active during violent scenes in the cartoons and that this was significantly and specifically reduced in Down syndrome. When the antagonist was on screen, there was significantly less activation in the left medial temporal lobe of individuals with Down syndrome. As scenes represented greater relative threat, the disparity between attentional brain activation in Down syndrome and control individuals increased. There was a reduction in the temporal autocorrelation of the dorsal attention network, consistent with a shortened attention span in Down syndrome. Individuals with Down syndrome exhibited significantly reduced activation in primary sensory cortices, and such perceptual impairments may constrain their ability to respond to more complex social cues such as violence. These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated

  9. Prognostic factors in children and adolescents with acute myeloid leukemia (excluding children with Down syndrome and acute promyelocytic leukemia): univariate and recursive partitioning analysis of patients treated on Pediatric Oncology Group (POG) Study 8821.

    Science.gov (United States)

    Chang, M; Raimondi, S C; Ravindranath, Y; Carroll, A J; Camitta, B; Gresik, M V; Steuber, C P; Weinstein, H

    2000-07-01

    The purpose of the paper was to define clinical or biological features associated with the risk for treatment failure for children with acute myeloid leukemia. Data from 560 children and adolescents with newly diagnosed acute myeloid leukemia who entered the Pediatric Oncology Group Study 8821 from June 1988 to March 1993 were analyzed by univariate and recursive partitioning methods. Children with Down syndrome or acute promyelocytic leukemia were excluded from the study. Factors examined included age, number of leukocytes, sex, FAB morphologic subtype, cytogenetic findings, and extramedullary disease at the time of diagnosis. The overall event-free survival (EFS) rate at 4 years was 32.7% (s.e. = 2.2%). Age > or =2 years, fewer than 50 x 10(9)/I leukocytes, and t(8;21) or inv(16), and normal chromosomes were associated with higher rates of EFS (P value = 0.003, 0.049, 0.0003, 0.031, respectively), whereas the M5 subtype of AML (P value = 0.0003) and chromosome abnormalities other than t(8;21) and inv(16) were associated with lower rates of EFS (P value = 0.0001). Recursive partitioning analysis defined three groups of patients with widely varied prognoses: female patients with t(8;21), inv(16), or a normal karyotype (n = 89) had the best prognosis (4-year EFS = 55.1%, s.e. = 5.7%); male patients with t(8;21), inv(16) or normal chromosomes (n = 106) had an intermediate prognosis (4-year EFS = 38.1%, s.e. = 5.3%); patients with chromosome abnormalities other than t(8;21) and inv(16) (n = 233) had the worst prognosis (4-year EFS = 27.0%, s.e. = 3.2%). One hundred and thirty-two patients (24%) could not be grouped because of missing cytogenetic data, mainly due to inadequate marrow samples. The results suggest that pediatric patients with acute myeloid leukemia can be categorized into three potential risk groups for prognosis and that differences in sex and chromosomal abnormalities are associated with differences in estimates of EFS. These results are tentative and

  10. Oral findings of Down syndrome children in Chennai city, India

    Directory of Open Access Journals (Sweden)

    Asokan Sharath

    2008-01-01

    Full Text Available Purpose: To assess the common oral findings and anomalies of Down syndrome (DS children in Chennai city, India. Materials and Methods: Among the 130 DS children examined, 102 children aged 15 years and below were included in the study. There were 57 male children and 45 female children in the total study sample. A specially prepared case record was used to record the following findings in each child: a brief family and personal history; anomalies of soft tissues, teeth, occlusion, and temporomandibular joint. Age wise and sex wise comparisons of the findings were done. Results: About 97 children (95% had the habit of regular tooth brushing. Everted lower lip (66%, retained primary teeth (31%, and midface deficiency (76% were the most commonly seen soft tissue, dental, and occlusion anomalies, respectively. Conclusions: Midface deficiency was the most common orofacial anomaly seen in these children, followed by everted lower lip and retained primary teeth. Almost all the children had a regular tooth brushing habit. All the children examined were offered free dental treatment in our dental college.

  11. Effects of Weight Resistance Training on Swimmers with Down Syndrome

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    Fabián Víquez Ulate y Andrea Mora Campos

    2011-01-01

    Full Text Available The objective of this study was to determine the effect of weight resistance training on strength in swimmers with Down Syndrome (DS. Seven swimmers with DS participated in the study: 6 men and 1 woman, 23.14 years of age ± 4.59 and with 6.14 years ± 2.34 years of swimming. Instruments: One repetition maximum (RM test to determine the individual’s maximum muscular strength. Procedure: the study was conducted for 10 weeks (2 weeks at baseline, 6 weeks of treatment and 2 weeks to see the effects of retention. Results: significantly positive changes were detected in the maximum strength of pectoral muscles (F=5.768; p=0.006, dorsal muscles (F = 26.770; p=7.45e-007, femoral biceps (F = 32.530; p=1.76e-007, quadriceps (F = 8.391; p=0.001, triceps (F = 11.217; p=0.0002 and these adjustments were maintained with no significant changes for two weeks, while the biceps muscle (F=4.145; p=0.021 behaved differently since it suffered no significant adjustments during the program.

  12. Assessing pragmatic communication in children with Down syndrome.

    Science.gov (United States)

    Smith, Elizabeth; Næss, Kari-Anne B; Jarrold, Christopher

    2017-07-01

    Successful communication depends on language content, language form, and language use (pragmatics). Children with Down syndrome (DS) experience communication difficulties, however little is known about their pragmatic profile, particularly during early school years. The purpose of the present study was to explore the nature of pragmatic communication in children with DS. Twenty-nine six-year-old children with DS were assessed, in the areas of 1) initiation, 2) scripted language, 3) understanding context and 4) nonverbal communication, as reported by children's parents via the Children's Communication Checklist-2 (Bishop, 2003). Additionally, the relationships between pragmatics and measures of vocabulary, nonverbal mental ability and social functioning were explored. Children with DS were impaired relative to norms from typically developing children in all areas of pragmatics. A profile of relative strengths and weaknesses was found in the children with DS; the area of nonverbal communication was significantly stronger, while the area of understanding context was significantly poorer, relative to the other areas of pragmatics assessed in these children. Relationships between areas of pragmatics and other linguistic areas, as well as aspects of vocabulary and social functioning were observed. By the age of six children with DS experience significantly impaired pragmatic communication, with a clear profile of relative strengths and weaknesses. The study highlights the need to teach children with DS pragmatic skills as a component of communication, alongside language content and form. Copyright © 2017. Published by Elsevier Inc.

  13. Measuring feeding difficulties in toddlers with Down syndrome.

    Science.gov (United States)

    van Dijk, Marijn; Lipke-Steenbeek, Wilma

    2018-07-01

    Early feeding problems occur frequently across the population, but have a higher incidence in children with Down syndrome (DS). Early identification can possibly be improved with the help of a valid screening instrument based on caregiver reports. In a previous study, we investigated the concurrent validity of the Dutch version of the Montreal Children's Hospital Feeding Scale (MCH-FS, SEP in Dutch) in a sample of typically developing toddlers, and we found a correlation between the score on the instrument and observed behavior during a regular meal. The current pilot study was a replication in a sample of children with DS (aged 1; 0-3; 0) and their primary caregivers (n = 32). The results showed that children in the sample did not score higher on the SEP than children in their respective norm groups. In addition, when caregivers reported more symptoms of feeding problems on the SEP, children showed more food refusal and negative affect during the observed meal. This suggests that the screening instrument is particularly associated with negative mealtime interactions. This is in contrast with earlier results, which mainly indicated a relation with eating skills. Copyright © 2018 Elsevier Ltd. All rights reserved.

  14. Eyewitness recall and suggestibility in individuals with Down syndrome.

    Science.gov (United States)

    Collins, D; Henry, L

    2016-12-01

    Many criminal justice professionals perceive the eyewitness skills of individuals with intellectual disabilities to be weaker than those of typically developing (TD) individuals. Down syndrome (DS) is one of the most common genetic causes of intellectual disabilities, yet there is no research addressing eyewitness skills in this population. This study examined the eyewitness recall and suggestibility of young people with DS. Young people with DS and mental age-matched TD children viewed a video of a non-violent petty crime and were subsequently asked to freely recall the event before being asked general and specific questions incorporating both misleading and non-leading prompts. Compared with mental age-matched TD individuals, young people with DS produced as much information, were just as accurate and were no more suggestible. The eyewitness memory skills of young people with DS are comparable to those of mental age-matched TD children. The implications of these findings for the forensic context and eyewitness memory are discussed. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  15. Profile of physiotherapy intervention for Down syndrome children

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    Késia Damascena Winter de Morais

    Full Text Available Abstract Introduction: Down Syndrome (DS is a genetic disorder that causes global delay in development, including motor function, language and cognitive. Physiotherapy is offered from birth in order to stimulate the acquisition of motor skills. Early intervention presents most benefits, as neural plasticity is at its peak in the first months of life. Objective: This study aimed to investigate the profile of physiotherapy intervention for children with DS during their first three years in specialized institutions. Methods: Data for this qualitative study were collected through semi-structured interviews, with 11 physiotherapists who worked in São Paulo coastal and metropolitan areas. Results: Results indicate that, although most professionals use the internet as a means to being up-to-date, and doing specialized courses, not always in pediatric neurology, they felt safe to work in the area shortly after graduation, using the principles of Bobath Concept, characterized by 30-minute therapies, with a frequency of once to twice per week to guide treatment. Conclusion: Data should serve as a basis for parents' reflections, who must seek to know the experience of therapists who attend to their children, as well as institutions to encourage professionals to update their knowledge and search for appropriate expertise, in order to optimize therapy.

  16. Otitis media with effusion in children with in Down syndrome.

    Science.gov (United States)

    Austeng, Marit Erna; Akre, Harriet; Øverland, Britt; Abdelnoor, Michael; Falkenberg, Eva-Signe; Kværner, Kari Jorunn

    2013-08-01

    To determine the prevalence of otitis media with effusion (OME) in children with Down syndrome (DS), and the associated to hearing loss at the age of 8 years. A national population based clinical study of all children with DS born in Norway in 2002. OME was found in 20 out of 52 (38%) children. Those with OME had a significant lower hearing level with a mean pure tone average (PTA) of 33.4 dB HL compared to children with no OME whose mean PTA was 21.7 dB HL (p children with DS as current otitis media was found in one of three. This reduced hearing ability in children with DS due to OME at age of 8 strongly emphasizes the need for optimal treatment and follow up to optimize hearing rehabilitation. The findings are further supported by the population based study design, the focus on the narrow age band and the high response rate. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  17. The Participation Patterns of Youth with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Megan MacDonald

    2016-11-01

    Full Text Available Purpose: The purpose of this paper was to investigate the participation patterns of children with Down syndrome (DS using the construct of participation as defined by the International Classification of Functioning Disability and Health (ICF. Method: Sixty-two children with DS were recruited between the ages of 9- 17 years. All participants were given an interview-administered version of the Children's Assessment of Participation and Enjoyment (CAPE to measure participation.38 Results: Children with DS participated the most often, based on frequency, in recreational activities (p < 0.001; social activity-types represented the greatest extension into the community based on with whom the children participated with (p < 0.05; finally, physical and social activities represented the greatest extension into the community geographically (p < 0.001. In addition, children with DS are significantly more active in activities that are informal in nature. Conclusions: Children with DS participate in a number of activities however, the extent of their participation within these activities differs depending on the participation pattern examined. Implications for educational and community-based programs are discussed.

  18. Physical activity patterns in children with and without Down syndrome.

    Science.gov (United States)

    Whitt-Glover, Melicia C; O'Neill, Kristen L; Stettler, Nicolas

    2006-01-01

    To describe physical activity (PA) patterns in children with Down syndrome (DS) compared to their unaffected siblings. Children with DS (n = 28) and their siblings (n = 30), between 3-10-years (mean +/- SD 7.1 +/- 2.1 years) participated in a nutrition and growth study. PA was measured over 7 days using accelerometers. Children with DS were younger (6.6 vs. 7.1 years) and heavier (BMI 18.4 vs. 16.7 kg m(-2)) than their siblings (p children. Children with DS accumulated less VPA than their siblings (49.5 vs. 68.6 minutes per day; p = 0.04) and for shorter bouts (2.5 vs. 5.1 minutes per bout; p Children with DS participated in less total and sustained VPA and had higher BMI levels compared with their siblings. Because children with DS have a tendency toward childhood obesity, increasing participation in VPA may be appropriate for prevention of obesity and promotion of lifelong health.

  19. Down syndrome and the high background radiation areas of Kerala

    International Nuclear Information System (INIS)

    Jaikrishan, G.; Ramachandran, E.N.; Karuppasamy, C.V.; Sudheer, K.R.; Andrews, V.J.; Soren, D.C.; Anil Kumar, V.; Koya, P.K.M.; Cheriyan, V.D.; Seshadri, M.

    2010-01-01

    Down syndrome (DS) or trisomy-21 is a complex human clinical entity compromising several functional, structural and developmental features with wide variation in expression levels. The diagnosis is confirmed in majority of the cases by an extra dose of chromosome 21 by cytogenetics and occasionally it may be due to either chromosomal translocation or mosaicism (different cell lines in the same individual). The extra chromosome 21 is usually formed by non-disjunction during meiosis and is the most common numerical chromosomal anomaly compatible with life, as chromosome 21 is one of the smallest with relatively fewer genes most of which are reckoned to be non lethal. Though exact causative factors and pathogenesis is not fully understood, a rise in maternal age at conception coupled with deleterious environmental influence on an ageing ovum is a recognized risk factor. The de novo nature of trisomy-21 and its relatively higher frequency makes it a reliable indicator to assess the role of chronic high background radiation in inducing germ line mutation and congenital malformation. Many other relatively common congenital malformations with multifactorial origin may not have this de novo property and associating its incidence with the prevailing natural background radiation become more complex. In vitro studies have shown association between high intensity radiation and genetics effects but such a relationship so far was not established between DS and radiation

  20. Improving Memory and Cognition in Individuals with Down Syndrome.

    Science.gov (United States)

    Rafii, Michael S

    2016-07-01

    Down syndrome (DS), often due to trisomy 21, is the most common genetic cause of intellectual disability (ID). In addition, virtually all individuals with DS develop the neuropathology of Alzheimer's disease (AD) by the age of 40 years and almost 60 % will manifest symptoms of AD dementia by the age of 65 years. Currently, there are no pharmacological treatments available for ID in individuals with DS and only limited symptomatic treatments for AD dementia. Advances in our understanding in both the molecular basis of ID and the pathogenesis of AD have created opportunities to study potential therapeutic targets. Recent studies in animal models of DS continue to provide a rational basis for translating specific compounds into human clinical trials. However, target and compound selection are only initial steps in the drug development pathway. Other necessary considerations include appropriate study designs to assess efficacy in the DS population, as well as operational aspects specifically tailored to assess cognition in this population. We discuss recent progress in the development of compounds for both ID and AD in individuals with DS, as well as concepts for the design and conduct of clinical trials with such compounds.

  1. Cachexia Syndrome, anorexia patient

    International Nuclear Information System (INIS)

    Roldán, G.; Musé, I.

    2004-01-01

    Introduction: Two thirds of patients (ptes) cancer present slimming recognized a negative prognostic factor. Anorexia cachexia syndrome (SCA) results from the interaction of multiple factors and causes death of 22% of these patients. Nutritional support produces a moderate recovery weight without affecting the underlying metabolic disorders. Objectives: Conduct a review of current knowledge of the underlying pathophysiology and management the cachexia-anorexia syndrome in cancer patients. Designing indications possible policy interventions in the management of these patients. Method: Performed an a literature review on SCA. Conclusions: We identify patients at risk for early implementation of non-pharmacological measures preventive. The control side effects to treatment oncospecific with particular attention to the need for antiemetics, laxatives / antidiarrheal control dental and proper pain management is fundamental. Keep track enteral is a priority. In those with swallowing disorders or dysphagia, nasogastric feeding tube should be considered early. Indications for gastrostomy / jejunostomy and total parenteral nutrition (TPN) are very limited. The NPT is a complementary treatment maneuver a temporary and reversible complication, in order to prevent deterioration

  2. Coordinated Pediatric and Periodontal Dental Care of a Child with Down syndrome.

    Science.gov (United States)

    Byrd, Gentry; Quinonez, Rocio B; Offenbacher, Steven; Keels, Martha Ann; Guthmiller, Janet M

    2015-01-01

    The purpose of this report was to describe the management of an eight-year-old Bulgarian male with Down syndrome presenting with periodontitis as a manifestation of systemic disease in the early mixed dentition. Treatment involved full-mouth mechanical debridement and extraction of hopeless teeth under general anesthesia followed by systemic antibiotics and chemical adjunctive therapy. Microbial culture and sensitivity testing aided in diagnosis and guided treatment decisions. This case report demonstrates a multidisciplinary approach in the management of aggressive periodontal disease in an internationally adopted pediatric patient with special health care needs.

  3. Optical mapping of the brain activity in children with Down's syndrome

    Science.gov (United States)

    Yuan, Zhen; Lu, Fengmei

    2018-02-01

    Down's syndrome (DS) has been shown to be associated with many neurological complications, including cognitive deficits, seizures, early-onset dementia that resembles Alzheimer's disease, and neurological complications of systemic disorders. DS patients show to have poor performance in executive functions (EF) and fine motor skills. In this study, we examined the brain hemodynamic responses and brain activation patterns of DS children during the completion of EF tasks. Revealing its neural mechanism of DS is not only able to contribute to the early intervention of this children with DS, but also increase understanding of developmental cascades in childhood.

  4. Congenital leukemoid reaction followed by fatal leukemia. A case with Down's syndrome.

    Science.gov (United States)

    Lin, H P; Menaka, H; Lim, K H; Yong, H S

    1980-10-01

    A serial clinical, hematologic, and cytogenetic study was done on a baby with Down's syndrome in whom a myeloid leukemoid reaction developed at birth that spontaneously regressed within a month only to relapse two years later to an acute undifferentiated stem cell leukemia. He died 1 1/2 months after onset. The unresolved controversy of the diagnosis of the congenital leukemia-like state is discussed. The importance of following up such patients with apparent remission of their congenital leukemia-like disorder is emphasized.

  5. Outcome of acute lymphoblastic leukemia in children with down syndrome-Polish pediatric leukemia and lymphoma study group report.

    Science.gov (United States)

    Zawitkowska, Joanna; Odój, Teresa; Drabko, Katarzyna; Zaucha-Prażmo, Agnieszka; Rudnicka, Julia; Romiszewski, Michał; Matysiak, Michał; Kwiecińska, Kinga; Ćwiklińska, Magdalena; Balwierz, Walentyna; Owoc-Lempach, Joanna; Derwich, Katarzyna; Wachowiak, Jacek; Niedźwiecki, Maciej; Adamkiewicz-Drożyńska, Elżbieta; Trelińska, Joanna; Młynarski, Wojciech; Kołtan, Andrzej; Wysocki, Mariusz; Tomaszewska, Renata; Szczepański, Tomasz; Płonowski, Marcin; Krawczuk-Rybak, Maryna; Ociepa, Tomasz; Urasiński, Tomasz; Mizia-Malarz, Agnieszka; Sobol-Milejska, Grażyna; Karolczyk, Grażyna; Kowalczyk, Jerzy

    2017-05-01

    Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3. All patients were treated according to ALLIC 2002 protocol. The median observation time of all patients was 6.1 years, and in patients with DS 5.3 years. Five-year overall survival (OS) was the same in all patients (86% vs 86%, long-rank test, p = .9). The relapse-free survival (RFS) was calculated as 73% in patients with DS and 81% in patients without DS during a median observation time (long-rank test, p = .3). No statistically significant differences were found in the incidence of nonrelapse mortality between those two groups of patients (p = .72). The study was based on children with ALL and Down syndrome who were treated with an identical therapy schedule as ALL patients without DS, according to risk group. This fact can increase the value of the presented results.

  6. Pain sensitivity of children with Down syndrome and their siblings: quantitative sensory testing versus parental reports.

    Science.gov (United States)

    Valkenburg, Abraham J; Tibboel, Dick; van Dijk, Monique

    2015-11-01

    The aim of this study was to compare thermal detection and pain thresholds in children with Down syndrome with those of their siblings. Sensory detection and pain thresholds were assessed in children with Down syndrome and their siblings using quantitative testing methods. Parental questionnaires addressing developmental age, pain coping, pain behaviour, and chronic pain were also utilized. Forty-two children with Down syndrome (mean age 12y 10mo) and 24 siblings (mean age 15y) participated in this observational study. The different sensory tests proved feasible in 13 to 29 (33-88%) of the children with Down syndrome. These children were less sensitive to cold and warmth than their siblings, but only when measured with a reaction time-dependent method, and not with a reaction time-independent method. Children with Down syndrome were more sensitive to heat pain, and only 6 (14%) of them were able to adequately self-report pain, compared with 22 (92%) of siblings (pChildren with Down syndrome will remain dependent on pain assessment by proxy, since self-reporting is not adequate. Parents believe that their children with Down syndrome are less sensitive to pain than their siblings, but this was not confirmed by quantitative sensory testing. © 2015 Mac Keith Press.

  7. Abnormal serum IgG subclass pattern in children with Down's syndrome.

    Science.gov (United States)

    Annerén, G; Magnusson, C G; Lilja, G; Nordvall, S L

    1992-05-01

    Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concentrations of IgG1 and IgG3 were significantly raised among children with Down's syndrome in all three age groups studied (that is 1-2.5, 4-8, and 9-12 years). The serum concentrations of IgG2 were normal in the first two groups but significantly reduced in the third age group. In contrast, the concentrations of IgG4 among children with Down's syndrome were significantly reduced in all three age groups. Moreover, among the children with Down's syndrome aged 4-12 years 68% (15/22) had IgG4 concentrations below 2 SDs of the geometrical mean of the controls. The results may partially explain the proneness of children with Down's syndrome to infections with encapsulated bacteria. Although the underlying cause of these abnormalities is unknown, IgG subclass determination seems relevant in the clinical evaluation of children with Down's syndrome.

  8. Working memory in children and adolescents with Down syndrome: evidence from a colour memory experiment.

    Science.gov (United States)

    Laws, Glynis

    2002-03-01

    This paper reports information on the visual and verbal short-term memory of individuals with Down syndrome. Colour memory in 16 children and adolescents with Down syndrome was compared with that of 16 typically developing children matched for receptive vocabulary. It was suggested that focal colours should be remembered more successfully than non-focal colours on the basis that the former could be remembered using a verbal recoding strategy. However, children with Down syndrome, for whom a deficit in verbal short-term memory makes the use of such a strategy unlikely, should remember focal and non-focal colours equally well. More importantly, if individuals with Down syndrome have more developed visual memory abilities than control children, they should outperform them in recognising non-focal colours. Although the group with Down syndrome demonstrated significantly better Corsi blocks performance than controls, and displayed similar levels of colour knowledge, no advantage for colour memory was found. Non-focal colours were remembered by individuals with Down syndrome as successfully as focal colours but there was no indication of a visual memory advantage over controls. Focal colours were remembered significantly more successfully than non-focal colours by the typically developing children. Their focal colour memory was significantly related to digit span, but only Corsi span was related to focal colour memory in the group with Down syndrome.

  9. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  10. TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult

    Directory of Open Access Journals (Sweden)

    Anne-Sophie Gauchez

    2010-01-01

    Full Text Available Background. For unknown reasons, the prevalence of thyroid autoimmune disorders is higher in patients with Down's syndrome than in the general population. The present case strongly supports a recent evaluation of propagating screening for thyroid disease in this group of patients to assure early diagnosis of hypothyroidism. Methods. In a 25-year-old man diagnosed with Down's syndrome, clinical manifestations of hypothyroidism were lacking, but profound biochemical abnormalities were found with particularly high levels of thyroid stimulating hormone (TSH. Antigenic properties of TSH were characterized using a panel of anti-TSH antibodies. Results. Technical problems not infrequently associated with TSH measurements are convincingly ruled out. Antigenic characterization of the patient's circulating TSH revealed circulating forms of TSH different from pituitary TSH which closely resembled TSH recombinant human hormone. Conclusions. It appears counterintuitive that the bioactivity of TSH decreases in the hypothyroid state as higher bioactivity of TSH is anticipated in hypothyroidism promoted by an increased hypothalamic TRH drive. In contrast, diminished negative thyroid hormone feedback will enhance posttranslational glycosylation of TSH subunits and increase sialylation of the carbohydrate side chains. Both exert a negative effect on TSH bioactivity, only compensated by the very high levels of the hormone as in the present case.

  11. [Ethical aspects of disclosing information on prenatal screening for Down's syndrome].

    Science.gov (United States)

    Tóth, Adél; Szabó, János

    2005-02-06

    Giving detailed information on prenatal screening for Down's syndrome is considered as paramount since this medical procedure intends to enhance the patient's self-governance in reproductive issues. Not only the respect for autonomy, but also the increased maternal anxiety and the reproductive decisions following the positive test result demand from the genetic professional to offer the test through genetic counselling. The counsellor's awareness about the expectations of pregnant women and the clarification of her own attitude concerning the screening can contribute to the effectiveness of counselling. The content of information embraces the technical aspects of screening and its consequences, like the description of Down's syndrome, the method of screening, the way of risk assessment, the detection rate, the false positive and false negative test results, the diagnostic procedures, and the termination of pregnancy. Written information leaflets should be completed by personal communication as the combination of these two forms has proved to be the most useful. The process of consultation is influenced by the communication skill of the genetic professional and the information seeking activity of the patient, so doctors should be trained to communicate better and patients should be encouraged to get more information about the screening.

  12. Language and Verbal Short-Term Memory Skills in Children with Down Syndrome: A Meta-Analytic Review

    Science.gov (United States)

    Naess, Kari-Anne B.; Lyster, Solveig-Alma Halaas; Hulme, Charles; Melby-Lervag, Monica

    2011-01-01

    This study presents a meta-analytic review of language and verbal short-term memory skills in children with Down syndrome. The study examines the profile of strengths and weaknesses in children with Down syndrome compared to typically developing children matched for nonverbal mental age. The findings show that children with Down syndrome have…

  13. Identifying Network Structure, Influencers and Social Mood in Digital Spheres: A Sentiment and Content Analysis of Down Syndrome Awareness

    Science.gov (United States)

    Sani-Bozkurt, Sunagul

    2018-01-01

    Down syndrome is a sensitive subject and one that requires efforts being made to improve conditions for individuals with Down syndrome across multiple dimensions. Social awareness is one of the important dimensions for the inclusion of individuals with Down syndrome. Online spaces, as well as offline spaces, are an important part of our daily…

  14. A survey of speech and language pathology services for Down syndrome: state of the art.

    Science.gov (United States)

    Kumin, L

    1986-01-01

    This article summarizes current trends in speech and language pathology services to individuals with Down syndrome. Data was collected through the use of a questionnaire mailed to speech and language pathologists who regularly serve clients with Down syndrome. Most widely used assessment instruments, therapy materials, sources of information, and need for materials to be developed are presented as they relate to services for birth-3 year olds, 3-5 year olds, school-age-14 year olds, prevocational-18 year olds, and above-age-18 adult services. The discussion addresses specific needs for research and needed direction for evaluation and treatment with the Down syndrome population.

  15. Direct analysis of thymic function in children with Down's syndrome

    Directory of Open Access Journals (Sweden)

    Meschiari Liviana

    2005-02-01

    Full Text Available Abstract Background Down's syndrome (DS is characterized by several immunological defects, especially regarding T cell compartment. DS is considered the best example of accelerated ageing in humans. Direct observations of the thymus have shown that in DS this organ undergoes severe histological and morphological changes. However, no data on its capacity to generate T cells are present in the literature. Here, using a new technology based upon real time PCR, we have investigated the capacity of the thymus to produce and release newly generated T lymphocytes (the so called "recent thymic emigrants", RTE in children with DS. Methods We studied 8 children affected by DS, aged 2–7 years, compared with 8 age- and sex-matched healthy controls. Flow cytometry was used to determine different lymphocytes subsets. Real time PCR with the Taqman system was used to quantify the amount of RTE, i.e. peripheral blood lymphocytes that express the T cell receptor rearrangement excision circles (TREC. Results In comparison with control children, those with DS had a significant lower number of TREC+ peripheral blood cells. Moreover, in DS children but not in controls, a strong negative correlation between age and the levels of TREC+ cells was found. Conclusions The direct measure of thymic output indicates that the impairment of the organ results in a reduced production of newly generated T cells. This observation could suggest that cytokines able to modulate thymic function, such as interleukins, could be useful to improve the functionality of the organ and to treat the immunodeficiency present in DS subjects.

  16. Down syndrome: Cognitive and behavioral functioning across the lifespan.

    Science.gov (United States)

    Grieco, Julie; Pulsifer, Margaret; Seligsohn, Karen; Skotko, Brian; Schwartz, Alison

    2015-06-01

    Individuals with Down syndrome (DS) commonly possess unique neurocognitive and neurobehavioral profiles that emerge within specific developmental periods. These profiles are distinct relative to others with similar intellectual disability (ID) and reflect underlying neuroanatomic findings, providing support for a distinctive phenotypic profile. This review updates what is known about the cognitive and behavioral phenotypes associated with DS across the lifespan. In early childhood, mild deviations from neurotypically developing trajectories emerge. By school-age, delays become pronounced. Nonverbal skills remain on trajectory for mental age, whereas verbal deficits emerge and persist. Nonverbal learning and memory are strengths relative to verbal skills. Expressive language is delayed relative to comprehension. Aspects of language skills continue to develop throughout adolescence, although language skills remain compromised in adulthood. Deficits in attention/executive functions are present in childhood and become more pronounced with age. Characteristic features associated with DS (cheerful, social nature) are personality assets. Children are at a lower risk for psychopathology compared to other children with ID; families report lower levels of stress and a more positive outlook. In youth, externalizing behaviors may be problematic, whereas a shift toward internalizing behaviors emerges with maturity. Changes in emotional/behavioral functioning in adulthood are typically associated with neurodegeneration and individuals with DS are higher risk for dementia of the Alzheimer's type. Individuals with DS possess many unique strengths and weaknesses that should be appreciated as they develop across the lifespan. Awareness of this profile by professionals and caregivers can promote early detection and support cognitive and behavioral development. © 2015 Wiley Periodicals, Inc.

  17. Down syndrome--genetic and nutritional aspects of accompanying disorders.

    Science.gov (United States)

    Mazurek, Dominika; Wyka, Joanna

    2015-01-01

    Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases. It is caused by having a third copy of chromosome 21, and there exist 3 forms; Simple Trisomy 21, Translocation Trisomy and Mosaic Trisomy. Symptoms include intellectual disability/mental retardation, early onset of Alzheimer's disease and the appearance of various phenotypic features such as narrow slanted eyes, flat nose and short stature. In addition, there are other health problems throughout the body, consisting in part of cardiac defects and thyroid function abnormalities along with nutritional disorders (ie. overweight, obesity, hypercholesterolemia and deficiencies of vitamins and minerals). Those suffering DS have widespread body frame abnormalities and impaired brain development and function; the latter leading to impaired intellectual development. Many studies indicate excessive or deficient nutrient uptakes associated with making inappropriate foodstuff choices, food intolerance, (eg. celiac disease) or malabsorption. DS persons with overweight or obesity are linked with a slow metabolic rate, abnormal blood leptin concentrations and exhibit low levels of physical activity. Vitamin B group deficiencies and abnormal blood homocysteine levels decrease the rate of intellectual development in DS cases. Zinc deficiencies result in short stature, thyroid function disorders and an increased appetite caused by excessive supplementation. Scientific advances in the research and diagnosis of DS, as well as preventing any associated conditions, have significantly increased life expectancies of those with this genetic disorder. Early dietary interventions by parents or guardians of DS children afford an opportunity for decreasing the risk or delaying some of the DS associated conditions from appearing, thus beneficially impacting on their quality of life.

  18. Pain and Cognitive Functioning in Adults with Down Syndrome.

    Science.gov (United States)

    de Knegt, Nanda C; Lobbezoo, Frank; Schuengel, Carlo; Evenhuis, Heleen M; Scherder, Erik J A

    2017-07-01

    The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain (i.e., affirmative answer to the question whether the individual feels pain) and experience of pain (i.e., intensity and affect) in adults with Down syndrome (DS). Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) in the Netherlands. File-based medical information was evaluated. Self-reported presence and experience of pain were assessed during a test session, both in rest and after movement (affect with the facial affective scale [FAS], intensity with the numeric rating scale [NRS]). Neuropsychological tests for memory and executive functioning were used. Participants with lower memory scores were more likely to report the presence of pain, while controlling for age, gender, physical conditions that may cause pain, language comprehension, and vocabulary ( p  = .030, 58.4% classification rate, N  = 154). No statistically significant associations were found between executive functioning and self-reported presence of pain or between cognitive functioning and self-reported pain experience. Memory seems to be related to the self-reported presence of pain in adults with DS after explicit inquiry, although the clinical use of this model is yet limited. Therefore, further research is needed for insight into the role of cognitive processes in self-report (e.g., involving aspects such as acquiescence and repeated measurements) to evaluate whether neuropsychological examination could contribute to pain assessment in DS. © 2016 American Academy of Pain Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  19. The perception of friendship in adults with Down syndrome.

    Science.gov (United States)

    Watt, K J; Johnson, P; Virji-Babul, N

    2010-11-01

    Measuring the perception of friendship in adults with Down syndrome (DS) has long been a research challenge. While there have been studies investigating the number of friends children with DS have in, the study of how adults with DS view the concept of friendship has been relatively unexplored. The aim of this study was to evaluate the perception of friendship in adults with DS using a visually based scale. Sixty-six individuals participated in this study: 22 adults with DS, 22 typical mental age (MA) matched children and 22 typical adults matched for chronological age (CA). We administered a visually based Friendship scale made up of photographs depicting social interactions between individuals or groups. The scale was composed of two parts. In Part 1 participants were shown two photographs and asked to select the photograph that best depicted friends. In Part 2 participants were asked to view one photograph and asked, 'Is it okay for friends to do this?' Adults with DS scored lower on the Friendship scale in comparison with the CA and MA matched groups. Adults with DS made more errors in identifying 'friends' from 'non-friends' but were equally able to distinguish friendly behaviours and actions from non-friendly behaviours as their CA and MA matched peers. Individuals with DS were more likely to incorrectly identify photographs depicting a teacher, or a mother with a child as friends. Actions or behaviours that depicted subtle negative emotions were also incorrectly identified. These results are an important first step in understanding the perception of friendship and social behaviours related to friendship in adults with DS. © 2010 The Authors. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd.

  20. Allocentric spatial learning and memory deficits in Down syndrome.

    Directory of Open Access Journals (Sweden)

    Pamela A Banta Lavenex

    2015-02-01

    Full Text Available Studies have shown that persons with Down Syndrome (DS exhibit relatively poor language capacities, and impaired verbal and visuoperceptual memory, whereas their visuospatial memory capacities appear comparatively spared. Individuals with DS recall better where an object was previously seen than what object was previously seen. However, most of the evidence concerning preserved visuospatial memory comes from tabletop or computerized experiments which are biased towards testing egocentric (viewpoint-dependent spatial representations. Accordingly, allocentric (viewpoint-independent spatial learning and memory capacities may not be necessary to perform these tasks. Thus, in order to more fully characterize the spatial capacities of individuals with DS, allocentric processes underlying real-world navigation must also be investigated. We tested 20 participants with DS and 16 mental age-matched, typically developing (TD children in a real-world, allocentric spatial memory task. During local cue (LC trials, participants had to locate three rewards marked by local color cues, among 12 locations distributed in a 4 m X 4 m arena. During allocentric spatial (AS trials, participants had to locate the same three rewards, in absence of local cues, based on their relations to distal environmental cues. All TD participants chose rewarded locations in LC and AS trials at above chance level. In contrast, although all but one of the participants with DS exhibited a preference for the rewarded locations in LC trials, only 50% of participants with DS chose the rewarded locations at above chance level in AS trials. As a group, participants with DS performed worse than TD children on all measures of task performance. These findings demonstrate that individuals with DS are impaired at using an allocentric spatial representation to learn and remember discrete locations in a controlled environment, suggesting persistent and pervasive deficits in hippocampus

  1. Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

    Science.gov (United States)

    Wilde, Lucy; Mitchell, Anna; Oliver, Chris

    2016-06-01

    Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings provide insight into the nature of social motivation in SMS and support an argument for nuanced consideration of motivation.

  2. Parenting of children with Down syndrome compared to fragile X syndrome.

    Science.gov (United States)

    Sterling, Audra; Warren, Steven F

    2018-01-01

    Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS. The mothers differed in their use of gestures and redirecting the child's attention. Overall, mothers in both groups of children appeared to adapt appropriately to their children's developmental needs.

  3. Dual-Task Processing as a Measure of Executive Function: A Comparison between Adults with Williams and Down Syndromes

    Science.gov (United States)

    Kittler, Phyllis M.; Krinsky-McHale, Sharon J.; Devenny, Darlynne A.

    2008-01-01

    Behavioral phenotypes of individuals with Williams syndrome and individuals with Down syndrome have been contrasted in relation to short-term memory. People with Down syndrome are stronger visuospatially and those with Williams syndrome are stronger verbally. We examined short-term memory, then explored whether dual-task processing further…

  4. Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study.

    Science.gov (United States)

    Corrado, Bruno; Sommella, Nadia; Ciardi, Gianluca; Raiano, Enza; Scala, Iris; Strisciuglio, Pietro; Servodio Iammarrone, Clemente

    2018-02-19

    The development of both gross and fine motor skills in a child with Down syndrome is generally delayed. The most seriously affected stage is the achievement of independent walking ability, which influences the onset of all following motor and cognityive skills. The study objectives were (a) to assess the time taken to achieve independent walking ability in a cohort of children with Down syndrome, (b) to examine differences in walking onset by patient characteristics, (c) to verify the effect of early physical therapy (Neurodevelopmental Treatment on the basis of Bobath Concept practised within the first months of life) in the achievement of that skill. A retrospective study was carried out on a cohort of 86 children with Down Syndrome. The knowledge of the exact age of walking onset and information about comorobities and rehabilitation practised since birth were the eligibility criteria. The average age at which walking began in the sample was 26 months (Standard Deviation = 9.66). Some patient characteristics proved to be related negatively to the walking onset: gender male, trisomy 21, improved joint ligamentous laxity. When practised, early physical therapy was able to contrast the delay in walking. NDT-Bobath is a well-known and valid instrument for a child with Down syndrome to attain his highest possible psychomotor functioning level. This study pointed out for the first time ever its capability to contrast the delay on walking onset, which can influences positively the development of the following motor and cognitive skills.

  5. Speech Timing and Verbal Short-Term Memory: Evidence for Contrasting Deficits in Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Jarrold, Christopher; Cowan, Nelson; Hewes, Alexa K.; Riby, Deborah M.

    2004-01-01

    This study explored the degree of verbal short-term memory deficit among individuals with Down syndrome and Williams syndrome, and the extent to which any such impairment could be accounted for by a relative slowing of rehearsal and output processes. Measures of serial recall and detailed assessments of speeded articulation for short and long…

  6. The Development of Route Learning in Down Syndrome, Williams Syndrome and Typical Development: Investigations with Virtual Environments

    Science.gov (United States)

    Purser, Harry R. M.; Farran, Emily K.; Courbois, Yannick; Lemahieu, Axelle; Sockeel, Pascal; Mellier, Daniel; Blades, Mark

    2015-01-01

    The ability to navigate new environments has a significant impact on the daily life and independence of people with learning difficulties. The aims of this study were to investigate the development of route learning in Down syndrome (N = 50), Williams syndrome (N = 19), and typically developing children between 5 and 11 years old (N = 108); to…

  7. Impact of a new national screening policy for Down's syndrome in Denmark

    DEFF Research Database (Denmark)

    Ekelund, Charlotte K; Jørgensen, Finn Stener; Petersen, Olav Bjørn

    2008-01-01

    OBJECTIVES: To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down's syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates...... and newborn infants with Down's syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants...... with a postnatal diagnosis of Down's syndrome. RESULTS: The number of infants born with Down's syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection...

  8. Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study

    DEFF Research Database (Denmark)

    Ekelund, Charlotte K; Jørgensen, Finn Stener; Petersen, Olav Bjørn

    2008-01-01

    OBJECTIVES: To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down's syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates...... and newborn infants with Down's syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants...... with a postnatal diagnosis of Down's syndrome. RESULTS: The number of infants born with Down's syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection...

  9. Maintenance electroconvulsive therapy for depression with catatonia in a young woman with Down syndrome.

    Science.gov (United States)

    Torr, Jennifer; D'Abrera, Juan Carlos

    2014-12-01

    To describe and discuss the use of maintenance electroconvulsive therapy (ECT) in a young woman with Down syndrome and depression with catatonia. Clinical case report. A 23-year-old woman with Down syndrome (mosaic type) and a 4-year history of depressed mood triggered by adverse life events presented with mutism, psychomotor retardation, and compromised oral intake. Multiple trials of antidepressant medications were either ineffective or complicated by adverse reactions. She improved rapidly with a course of bilateral ECT but required maintenance ECT to sustain recovery. A series of premorbid, morbid, and post-treatment drawings by the young woman highlight the efficacy of treatment. Electroconvulsive therapy was found to be a safe and effective treatment for life-threatening mental illness in a young woman with Down syndrome who had failed multiple trials of antidepressant medications. This case highlights the importance of considering catatonia as a diagnosis in persons with Down syndrome and the effectiveness of electroconvulsive treatment.

  10. Limited Evidence on the Management of Respiratory Tract Infections in Down's Syndrome : A Systematic Review

    NARCIS (Netherlands)

    Manikam, Logan; Reed, Kate; Venekamp, Roderick P; Hayward, Andrew; Littlejohns, Peter; Schilder, Anne; Lakhanpaul, Monica

    2016-01-01

    AIMS: To systematically review the effectiveness of preventative and therapeutic interventions for respiratory tract infections (RTIs) in people with Down's syndrome. METHODS: Databases were searched for any published and ongoing studies of respiratory tract diseases in children and adults with

  11. Auditory and Visual Sequential Memory of Down Syndrome and Nonretarded Children.

    Science.gov (United States)

    Marcell, Michael M.; Armstrong, Virginia

    1982-01-01

    Results of three studies involving Down syndrome students suggested that the auditory-visual recall difference evidenced by nonretarded but not by retarded Ss may have been due to the differential use of information in echoic memory. (Author)

  12. Divorce in families of children with Down syndrome: a population-based study.

    Science.gov (United States)

    Urbano, Richard C; Hodapp, Robert M

    2007-07-01

    In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group, however, a higher proportion occurred within the first 2 years after the child's birth. Mothers and fathers of children with Down syndrome were much more likely to divorce if they were younger, had not graduated from high school, and if fathers were less educated and lived in a rural area. Few effects on divorce were noted for a variety of family structure variables.

  13. Parent Stress and Perceptions of Language Development: Comparing Down Syndrome and Other Developmental Disabilities

    Science.gov (United States)

    Smith, Ashlyn L.; Romski, MaryAnn; Sevcik, Rose A.; Adamson, Lauren B.; Barker, R. Michael

    2013-01-01

    This study extended research on the Down syndrome advantage by examining differences in parent stress and parent perceptions of language development between 29 parents of young children with Down syndrome and 82 parents of children with other developmental disabilities. Parents of children with Down syndrome reported lower levels of total stress, child-related stress, and stress surrounding the parent-child interaction. Parents of children in both groups reported that they felt successful in their ability to impact their children’s communication development but did differ on perceptions of difficulty such that parents of children with Down syndrome perceived their children’s communication difficulties as less severe despite the children exhibiting similar language skills. Finally, after accounting for potential explanatory confounding variables, child diagnosis remained a significant predictor of parent stress and perceptions of language development. Results highlight the importance of considering etiology when assisting families raising a child with a disability. PMID:24753637

  14. [Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age].

    Science.gov (United States)

    Sarimski, Klaus

    2017-11-01

    Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age Research suggests that parenting stress is elevated in parents of children with intellectual disabilities. However, data are inconsistent if this holds true for parents of children with Down syndrome. As part of the Heidelberg Down syndrome study, 52 mothers of children with Down syndrome (mean age: 5 years) completed the German adaptation of the Parenting Stress Index. These results show significantly elevated stress scores in scales measuring demanding and less acceptable behavior of the children (child characteristics). Scores in scales measuring parent characteristics do not differ significantly from the norms. Global stress scores are associated with the degree of behavioral problems (SDQ) and adaptive competence (VABS-II). A regression analysis points to optimism as a dispositional trait of the mother which makes a significant contribution to the prediction of parenting stress scores. The implications for early intervention are discussed.

  15. Acomparative Study Comparing Low-dose Step-up Versus Step-down in Polycystic Ovary Syndrome Resistant to Clomiphene

    Directory of Open Access Journals (Sweden)

    S Peivandi

    2010-03-01

    Full Text Available Introduction: Polycystic ovary syndrome(PCOS is one of the most common cause of infertility in women. clomiphene is the first line of treatment. however 20% of patients are resistant to clomiphene. because of follicular hypersensitivity to gonadotropins in pcod, multiple follicular growth and development occurs which is cause of OHSS and multiple pregnancy. Our aim of this random and clinical study was comparation between step-down and low dose step-up methods for induction ovulation in clomiphene resistant. Methods: 60 cases were included 30 women in low-dose step-up group and 30 women in step-down group. In low-dose step-up HMG 75u/d and in step-down HMG 225u/d was started on 3th days of cycle, monitoring with vaginal sonography was done on 8th days of cycle. When follicle with>14 mm in diameter was seen HMG dose was continued in low-dose step-up and was decreased in step-down group. When follicle reached to 18mm in diameter, amp HCG 10000 unit was injected and IUI was performed 36 hours later. Results: Number of HMG ampules, number of follicles> 14mm on the day of HCG injection and level of serum estradiol was greater in low dose step up protocol than step down protocol(p<0/0001. Ovulation rate and pregnancy rate was greater in lowdose step up group than step down group with significant difference (p<0/0001. Conclusion: Our study showed that low-dose step-up regimen with HMG is effective for stimulating ovulation and clinical pregnancy but in view of monofollicular growth, the step down method was more effective and safe. In our study multifolliular growth in step-up method was higher than step-down method. We can predict possibility of Ovarian Hyperstimulation Syndrome syndrome in highly sensitive PCOS patients.

  16. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Gwang Jun; Lee, Eun Sil [Chung-Ang University School of Medicine, Seoul (Korea, Republic of)

    2009-04-15

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28{sup +3} weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

  17. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults With Down Syndrome

    OpenAIRE

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30–53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure activities, with low participation in physical and mentally stimulating leisure activities. Residence and time spent with primary caregiver were assoc...

  18. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    International Nuclear Information System (INIS)

    Kim, Gwang Jun; Lee, Eun Sil

    2009-01-01

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28 +3 weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management

  19. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

    OpenAIRE

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

    2011-01-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of m...

  20. Score of Fine Motor Skill in Children with Down Syndrome using Nintendo Wii

    Directory of Open Access Journals (Sweden)

    Puspasari Sinaga

    2016-09-01

    Full Text Available Background: Down syndrome occurs due to an extra chromosome 21, known as Trisomy 21. In addition to delayed cognitive and speech development, children with Down syndrome may also experience delayed gross and fine motor development. Virtual Reality Therapy, such as Nintendo Wii is a computer-based technology that allows users to interact with a virtual three-dimensional scenario and the most innovative physical rehabilitation method. High scores indicate that the player has a good motor skill. This study aimed to examine the difference between the score of fine motor skill in children with and without Down syndrome. Methods: An analytic cross-sectional study was conducted from August to November 2015 to 40 children aged between 9–12 years old who came from public primary schools and special needs schools in Bandung, West Java. They were divided into 2 groups using random gender and age pairing; one group was children with Down syndrome and another other group was normal children. The children’ scores of Nintendo Wii game were collected three times. The collected data were statistically analyzed by Chi-Square test. Results: The proportion of children with low-grade fine motor skill in Down syndrome group was larger than those with high-grade fine motor skill. In the other hand, in normal children group, the proportion was reversed compared to Down syndrome group. There was a significant difference in score of fine motor skill between children with Down syndrome and normal children (p=0.000. Conclusions: The fine motor skill of children with Down syndrome is poorer than normal children’s.

  1. Development of Walking and Self-sufficiency Ability Related to Nutrition among People with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Brantmüller Éva

    2015-05-01

    Full Text Available Development of the walking ability and self-care of patients with Down syndrome is affected by their body weight determining their lifestyle to a great extent. Objectives: The study aimed at the determination of body mass index for persons living in residential institutions and families, exploration its impact on walking and self-care as two, objective factors of life quality. Method: Data collection of persons aged 3-35 with Down syndrome living in families covered seven counties, while those of living in residential institutions covered thirteen counties in Hungary. In the 183 cases studied 76 people in residential institutions, 107 people lived in families. The cross-sectional study was processed by non-random sample selection. The questionnaires were filled out by health visitors and care takers edited by their own. Results: 50.6% of adults and 26.1% of children belonged to the overweight or obese category. Their residence showed a significant correlation with the body mass index (p< 0.001. Overweight and obese persons in families, while thin ones were more prevalent in institutions. Regarding the walking ability and self-care of the persons living in families a significantly higher level of development was achieved (p< 0.001. Walking ability (p = 0.001 and self-care (p = 0,008 were worsened by less body weight significantly, while overweight or obesity influenced it less negatively. Discussion: The claim is not further acceptable whereas persons with Down syndrome are more prone to obesity than average people. However unfavourable weight gain in adults draws attention to the necessity to a healthy diet and regular exercise. The people living in residential institutions with significantly lower body mass index and the associated low development of walking ability and self-care envisages an urgent reform of residential institutions. Life in the institutions negatively affects the walking ability and self-care, and thus significantly reduces

  2. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  3. How Do Families of Children with Down Syndrome Perceive Speech Intelligibility in Turkey?

    Directory of Open Access Journals (Sweden)

    Bülent Toğram

    2015-01-01

    Full Text Available Childhood verbal apraxia has not been identified or treated sufficiently in children with Down syndrome but recent research has documented that symptoms of childhood verbal apraxia can be found in children with Down syndrome. But, it is not routinely diagnosed in this population. There is neither an assessment tool in Turkish nor any research on childhood verbal apraxia although there is a demand not only for children with Down syndrome but also for normally developing children. The study examined if it was possible to determine oral-motor difficulties and childhood verbal apraxia features in children with Down syndrome through a survey. The survey was a parental report measure. There were 329 surveys received. Results indicated that only 5.6% of children with Down syndrome were diagnosed with apraxia, even though many of the subject children displayed clinical features of childhood verbal apraxia. The most frequently reported symptoms of childhood verbal apraxia in literature were displayed by the children with Down syndrome in the study. Parents could identify childhood verbal apraxia symptoms using parent survey. This finding suggests that the survey can be developed that could serve as a screening tool for a possible childhood verbal apraxia diagnosis in Turkey.

  4. Guidelineness of the parameters using integrated test in down syndrome risk prediction

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin Won [Graduate School of Catholic University of Pusan, Busan (Korea, Republic of); Go, Sung Jin; Kang, Se Sik; Kim, Chang Soo [Dept. Radiological Science, College of Health Sciences, Catholic University of Pusan, Busan (Korea, Republic of)

    2016-12-15

    This study was an evaluation of the significance of each parameter through aimed at pregnant women subjected to screening test(integrated test) in predicting risk of Down syndrome. We retrospectively analysed the correlation of risk of Down's syndrome with Nuchal Translucency(NT) images measured by ultrasound, Pregnancy Associated Plasma Protein A(PAPP-A), alpha-fetoprotein(AFP), unconjugated estriol(uE3), human chorionic gonadotrophin(hCG) and Inhibin A by maternal serum. As a result, a significant correlation with NT, uE3, hCG, Inhibin A is revealed with Down's syndrome risk(P<.001). In ROC analysis, AUC of Inhibin A is analysed as the biggest predictor of Down's syndrome(0.859). And the criterion for cut-off was inhibin A 1.4 MoM(sensitivity 81.8%, specificity 75.9%). In conclusion, Inhibin A was the most useful in parameters to predict Down's syndrome in the integrated test. If we make up for the weakness based on the cut-off value of parameters they will be able to be used as an independent indicator in the risk of Down's syndrome screening.

  5. Bone mineral density in children with Down's syndrome detected by dual photon absorptiometry

    International Nuclear Information System (INIS)

    Kao, C.H.; Chen, C.C.; Wang, S.J.; Yeh, S.H.

    1992-01-01

    Bone mineral density (BMD) in ten children with Down's syndrome (seven boys, three girls; aged 10-16 years) was measured by dual photon absorptiometry (DPA) using an M and SE Osteo Tech 300 scanner. The BMD of the 2nd to 4th lumbar vertebrae was measured and the mean density presented as g cm -2 . The BMD of Down's syndrome was compared with the BMD of normal Chinese children of the same age group. The results showed that the BMD in Down's syndrome was significantly lower compared to that found in normal children. The percentage of decreased BMD is 8.47 ± 2.69% (mean ± 1 S.E.M.) in Down's syndrome compared to normal children of the same age group. The distribution curve of BMD against ages in Down's syndrome has a delay of 2.3 ± 0.5 (mean ± 1 S.E.M.) years compared to normal children. In our conclusion, the children with Down's syndrome have lower BMD than the normal children of the same age group. (Author)

  6. Guidelineness of the parameters using integrated test in down syndrome risk prediction

    International Nuclear Information System (INIS)

    Lee, Jin Won; Go, Sung Jin; Kang, Se Sik; Kim, Chang Soo

    2016-01-01

    This study was an evaluation of the significance of each parameter through aimed at pregnant women subjected to screening test(integrated test) in predicting risk of Down syndrome. We retrospectively analysed the correlation of risk of Down's syndrome with Nuchal Translucency(NT) images measured by ultrasound, Pregnancy Associated Plasma Protein A(PAPP-A), alpha-fetoprotein(AFP), unconjugated estriol(uE3), human chorionic gonadotrophin(hCG) and Inhibin A by maternal serum. As a result, a significant correlation with NT, uE3, hCG, Inhibin A is revealed with Down's syndrome risk(P<.001). In ROC analysis, AUC of Inhibin A is analysed as the biggest predictor of Down's syndrome(0.859). And the criterion for cut-off was inhibin A 1.4 MoM(sensitivity 81.8%, specificity 75.9%). In conclusion, Inhibin A was the most useful in parameters to predict Down's syndrome in the integrated test. If we make up for the weakness based on the cut-off value of parameters they will be able to be used as an independent indicator in the risk of Down's syndrome screening

  7. Reliability and Validity of the Footprint Assessment Method Using Photoshop CS5 Software in Young People with Down Syndrome.

    Science.gov (United States)

    Gutiérrez-Vilahú, Lourdes; Massó-Ortigosa, Núria; Rey-Abella, Ferran; Costa-Tutusaus, Lluís; Guerra-Balic, Myriam

    2016-05-01

    People with Down syndrome present skeletal abnormalities in their feet that can be analyzed by commonly used gold standard indices (the Hernández-Corvo index, the Chippaux-Smirak index, the Staheli arch index, and the Clarke angle) based on footprint measurements. The use of Photoshop CS5 software (Adobe Systems Software Ireland Ltd, Dublin, Ireland) to measure footprints has been validated in the general population. The present study aimed to assess the reliability and validity of this footprint assessment technique in the population with Down syndrome. Using optical podography and photography, 44 footprints from 22 patients with Down syndrome (11 men [mean ± SD age, 23.82 ± 3.12 years] and 11 women [mean ± SD age, 24.82 ± 6.81 years]) were recorded in a static bipedal standing position. A blinded observer performed the measurements using a validated manual method three times during the 4-month study, with 2 months between measurements. Test-retest was used to check the reliability of the Photoshop CS5 software measurements. Validity and reliability were obtained by intraclass correlation coefficient (ICC). The reliability test for all of the indices showed very good values for the Photoshop CS5 method (ICC, 0.982-0.995). Validity testing also found no differences between the techniques (ICC, 0.988-0.999). The Photoshop CS5 software method is reliable and valid for the study of footprints in young people with Down syndrome.

  8. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale : Comprehensive Assessment of Psychopathology in Down Syndrome

    NARCIS (Netherlands)

    Dekker, Alain D; Sacco, Silvia; Carfi, Angelo; Benejam, Bessy; Vermeiren, Yannick; Beugelsdijk, Gonny; Schippers, Mieke; Hassefras, Lyanne; Eleveld, José; Grefelman, Sharina; Fopma, Roelie; Bomer-Veenboer, Monique; Boti, Mariángeles; Oosterling, G Danielle E; Scholten, Esther; Tollenaere, Marleen; Checkley, Laura; Strydom, André; Van Goethem, Gert; Onder, Graziano; Blesa, Rafael; Zu Eulenburg, Christine; Coppus, Antonia M W; Rebillat, Anne-Sophie; Fortea, Juan; De Deyn, Peter P

    2018-01-01

    People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of

  9. Sex and Genes, Part 1: Sexuality and down, Prader-Willi, and Williams Syndromes

    Science.gov (United States)

    Watson, Shelley Lynn; Richards, Deborah A.; Miodrag, Nancy; Fedoroff, J. Paul

    2012-01-01

    Specific genetic syndromes affect individuals' sexual development, experiences, and fertility. Individuals with specific syndromes can also display inappropriate sexual behavior resulting from vulnerabilities presented by their genetic makeup. Using clinical case studies, we discuss the specific impact that Down, Prader-Willi, and Williams…

  10. The Quality of Mainstreaming in Preschool: The Views of Parents of Children with Down Syndrome

    Science.gov (United States)

    Kayhan, Nilay; Özaydin, Latife

    2018-01-01

    Down syndrome (DS), one of the developmental (cognitive) deficits, is the most common syndrome that arises from genetic disorders. The mothers of children with DS who encounter the most intense emotional situations since the tendency to take responsibility the children's care and development usually belongs them. Among these intensive feelings,…

  11. Poor Phonemic Discrimination Does Not Underlie Poor Verbal Short-Term Memory in Down Syndrome

    Science.gov (United States)

    Purser, Harry R. M.; Jarrold, Christopher

    2013-01-01

    Individuals with Down syndrome tend to have a marked impairment of verbal short-term memory. The chief aim of this study was to investigate whether phonemic discrimination contributes to this deficit. The secondary aim was to investigate whether phonological representations are degraded in verbal short-term memory in people with Down syndrome…

  12. Pharmacodynamics and Pharmacokinetics of Morphine After Cardiac Surgery in Children With and Without Down Syndrome

    NARCIS (Netherlands)

    Valkenburg, Abraham J.; Calvier, Elisa A. M.; van Dijk, Monique; Krekels, Elke H. J.; O'Hare, Brendan P.; Casey, William F.; Mathôt, Ron A. A.; Knibbe, Catherijne A. J.; Tibboel, Dick; Breatnach, Cormac V.

    2016-01-01

    To compare the pharmacodynamics and pharmacokinetics of IV morphine after cardiac surgery in two groups of children-those with and without Down syndrome. Prospective, single-center observational trial. PICU in a university-affiliated pediatric teaching hospital. Twenty-one children with Down

  13. A study of new potential risk factors for Down syndrome in Upper Egypt

    African Journals Online (AJOL)

    The well-established risk factor, advanced maternal age, was not found in many of the Down syndrome cases in Egypt, while other possible risk factors have not been well studied yet. In view of this, we have conducted the present study to clarify that issue and throw some lights on other potential risk factors in Down ...

  14. Cross-trimester repeated measures testing for Down's syndrome screening: an assessment.

    LENUS (Irish Health Repository)

    Wright, D

    2010-07-01

    To provide estimates and confidence intervals for the performance (detection and false-positive rates) of screening for Down\\'s syndrome using repeated measures of biochemical markers from first and second trimester maternal serum samples taken from the same woman.

  15. Palivizumab use in infants with Down syndrome-report from the German Synagis™ Registry 2009-2016.

    Science.gov (United States)

    Simon, Arne; Gehrmann, Susanne; Wagenpfeil, Gudrun; Wagenpfeil, Stefan

    2018-06-01

    Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis™ Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4.8 per patient and season). The median gestational age and the birth weight in patients without and with DS were 31 versus 37 weeks (P versus 2750 g, respectively (P heart disease (CHD), siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. The RSV-related hospitalization rate in patients with DS was 1.20%; the hospitalization rate in patients without DS was 0.71%. Data from 249 children with DS receiving palivizumab prophylaxis in seven consecutive RSV seasons (2009-2016) in Germany reveal important differences between patients with and without DS concerning the main indication for palivizumab use and additional risk factors. Bearing in mind the limitations of an uncontrolled postmarketing observational study, the results confirm the field effectiveness of palivizumab prophylaxis in this special population. What is Known: • Recent studies describe the Down syndrome as independent risk factor for a complicated clinical course in infants with RSV infection. What is New: • Compared with other infants receiving palivizumab prophylaxis, patients with Down syndrome significantly more often had congenital heart disease, siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. • In infants with palivizumab prophylaxis breakthrough, RSV-related hospitalization rates were not significantly higher in those with Down syndrome.

  16. The relation between salivary sIgA level and caries incidence in Down syndrome children

    Directory of Open Access Journals (Sweden)

    Rosdiana Rosdiana

    2012-06-01

    Full Text Available Background: Down syndrome or Trisomy 21 is a genetic disorder caused by extra chromosome on chromosome 21. Down syndrome child, however, has good resistance against caries, and some of them even are caries-free. It is because the level of salivary sIgA in Down syndrome children is equal or even higher than that in normal children. Purpose: This review was aimed to review the relation between salivary sIgA level and caries incidence in Down syndrome children. Reviews: Down syndrome is a collection of symptoms caused by chromosomal abnormality that has a number of physical and mental disorders. Down syndrome children, nevertheless, have significantly lower incidence of caries than normal children. These conditions are thought to relate to characteristics of oral cavity and the level of salivary sIgA in Down syndrome children. Caries is a disease of dental hard tissues caused by the fermentation of sucrose into glucans by glucosyltransferase enzymes (GTF of Streptococcus mutans (S. mutans. One of proteins in saliva that acts as a defense mechanism is imunoglubulin. Secretory immunoglobulin A (sIgA inhibits the activity of S. mutans as bacteria causing caries forming glucan. This immunoglobulin, sIgA, is the most abundant immunoglobulin in saliva. The level of salivary sIgA in Down syndrome children is significantly higher than that in normal children. Conclusion: Besides factors of tooth eruption delays, wide spaces among teeth, microdontia, pH, and high saliva contents (calcium, sodium, bicarbonate, the low incidence of caries in Down syndrome children is also related with the higher level of salivary sIgA in Down syndrome children than that in normal children.Latar belakang: Sindroma Down atau Trisomi 21 merupakan kelainan genetik yaitu adanya kromosom ekstra pada kromosom 21. Anak sindroma Down memiliki resistensi yang baik terhadap karies dan sebagian dari mereka bebas karies. Kadar sIgA saliva anak sindroma Down sama atau bahkan lebih tingi

  17. Raising a child with down's syndrome: perspectives from South ...

    African Journals Online (AJOL)

    chromosomal abnormalities rather than attribution of the syndrome to a fault of their own. Despite the ..... children diagnosed with Attention Deficit/Hyperactivity. Disorder. Masters in Education University of Kwazu- ... Social Policy Research Unit.

  18. Do the MTHFR gene polymorphism and Down syndrome pregnancy ...

    African Journals Online (AJOL)

    Srinivasan Muthuswamy

    2015-09-28

    Sep 28, 2015 ... syndrome pregnancy association stands true? A case–control study of Indian population and meta-analysis. Srinivasan Muthuswamy ... Various clinical as well as experimental evidences have linked DNA hypomethylation to ...

  19. Reduced salivary flow and colonization by mutans streptococci in children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Areias

    2012-09-01

    Full Text Available OBJECTIVES: Although individuals with Down syndrome have considerable oral disease, the prevalence of dental caries in this group is low. The present study aimed to compare known risk factors for dental caries development in children with Down syndrome and a matched population (siblings. In both populations, the number of acidogenic microorganisms, such as mutans streptococci, lactobacilli and Candida species, and the paraffin-stimulated pH, flow rate and IgA concentration in whole saliva were evaluated and compared. METHOD: Saliva was collected, and the caries index was evaluated in 45 sibling pairs aged between 6 and 18 years old. The salivary IgA concentration was determined by immunoturbidimetry. Salivary mutans streptococci, lactobacilli and Candida species were quantified on mitis salivarius agar containing bacitracin and 20% sucrose, rogosa agar supplemented with glacial acetic acid and sabouraud agar supplemented with chloramphenicol, respectively. RESULTS: Down syndrome children had a higher caries-free rate (p<0.05 and lower salivary mutans streptococci counts (p<0.03 compared to their siblings. Similar numbers of lactobacilli and Candida species were found in both groups. Salivary flow rates were 36% lower in Down syndrome children compared to their siblings (p<0.05. The salivary pH did not differ between Down syndrome children and controls. The Down syndrome children had an IgA secretion rate 29% lower than that of their siblings, but this difference was not statistically significant. CONCLUSIONS: In conclusion, the lower number of mutans streptococci in the saliva may be one of the factors contributing to the lower caries rate observed in Down syndrome children, despite evidence of hyposalivation.

  20. Has prenatal screening influenced the prevalence of comorbidities associated with Down syndrome and subsequent survival rates?

    Science.gov (United States)

    Halliday, Jane; Collins, Veronica; Riley, Merilyn; Youssef, Danielle; Muggli, Evelyne

    2009-01-01

    With this study we aimed to compare survival rates for children with Down syndrome in 2 time periods, 1 before prenatal screening (1988-1990) and 1 contemporaneous with screening (1998-2000), and to examine the frequency of comorbidities and their influence on survival rates. Record-linkage was performed between the population-based Victorian Birth Defects Register and records of deaths in children up to 15 years of age collected under the auspice of the Consultative Council on Obstetric and Pediatric Mortality and Morbidity. Cases of Down syndrome were coded according to the presence or absence of comorbidities by using the International Classification of Diseases, Ninth Revision classification of birth defects. Kaplan-Meier survival functions and log rank tests for equality of survival distributions were performed. Of infants liveborn with Down syndrome in 1998-2000, 90% survived to 5 years of age, compared with 86% in the earlier cohort. With fetal deaths excluded, the proportion of isolated Down syndrome cases in the earlier cohort was 48.7% compared with 46.1% in the most recent cohort. In 1988-1990 there was at least 1 cardiac defect in 41.1% of cases and in 45.4% in 1998-2000. There was significant variation in survival rates for the different comorbidity groupings in the 1988-1990 cohort, but this was not so evident in the 1998-2000 cohort. Survival of children with Down syndrome continues to improve, and there is an overall survival figure of 90% to at least 5 years of age. It is clear from this study that prenatal screening technologies are not differentially ascertaining fetuses with Down syndrome and additional defects, because there has been no proportional increase in births of isolated cases with Down syndrome.

  1. Lynch syndrome: the patients' perspective

    NARCIS (Netherlands)

    Seppen, Jurgen; Bruzzone, Linda

    2013-01-01

    People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted

  2. Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder.

    Science.gov (United States)

    Martin, Gary E; Barstein, Jamie; Hornickel, Jane; Matherly, Sara; Durante, Genna; Losh, Molly

    The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages. Youth with FXS without ASD and those with idiopathic ASD did not differ from controls. No sex differences were detected in any group. Findings contribute to current knowledge of pragmatic profiles in different forms of genetically-based neurodevelopmental disorders associated with intellectual disability, and the role of sex in the expression of such profiles. Upon completion of this article, readers will have learned about: (1) the social-communicative profiles of youth with FXS, DS, and ASD, (2) the importance of signaling noncomprehension in response to a confusing message, and (3) the similarities and differences in noncomprehension signaling in youth with FXS (with and without ASD), DS, idiopathic ASD, and TD. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study.

    Science.gov (United States)

    Martínez-Castilla, Pastora; Burt, Michael; Borgatti, Renato; Gagliardi, Chiara

    2015-01-01

    In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.

  4. Developmental delays in phonological recoding among children and adolescents with Down syndrome and Williams syndrome.

    Science.gov (United States)

    Danielsson, Henrik; Henry, Lucy; Messer, David; Carney, Daniel P J; Rönnberg, Jerker

    2016-08-01

    This study examined the development of phonological recoding in short-term memory (STM) span tasks among two clinical groups with contrasting STM and language profiles: those with Down syndrome (DS) and Williams syndrome (WS). Phonological recoding was assessed by comparing: (1) performance on phonologically similar and dissimilar items (phonological similarity effects, PSE); and (2) items with short and long names (word length effects, WLE). Participant groups included children and adolescents with DS (n=29), WS (n=25) and typical development (n=51), all with average mental ages around 6 years. The group with WS, contrary to predictions based on their relatively strong verbal STM and language abilities, showed no evidence for phonological recoding. Those in the group with DS, with weaker verbal STM and language abilities, showed positive evidence for phonological recoding (PSE), but to a lesser degree than the typical group (who showed PSE and WLE). These findings provide new information about the memory systems of these groups of children and adolescents, and suggest that STM processes involving phonological recoding do not fit with the usual expectations of the abilities of children and adolescents with WS and DS. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Infectious Complications in Children With Acute Myeloid Leukemia and Down Syndrome: Analysis of the Prospective Multicenter Trial AML-BFM 2004.

    Science.gov (United States)

    Hassler, Angela; Bochennek, Konrad; Gilfert, Julia; Perner, Corinna; Schöning, Stefan; Creutzig, Ursula; Reinhardt, Dirk; Lehrnbecher, Thomas

    2016-06-01

    Children with acute myeloid leukemia (AML) and Down syndrome have high survival rates with intensity-reduced chemotherapeutic regimens, although the optimal balance between dose intensity and treatment toxicity has not been determined. We, therefore, characterized infectious complications in children with AML and Down syndrome treated according to AML-BFM 2004 study (ClinicalTrials.gov NCT00111345; amended 2006 for Down syndrome with reduced intensity). Data on infectious complications were gathered from the medical records in the hospital where the patient was treated. Infectious complications were categorized as fever without identifiable source (FUO), or as microbiologically or clinically documented infections. A total of 157 infections occurred in 61 patients (60.5% FUO, 9.6% and 29.9% clinically and microbiologically documented infections, respectively). Almost 90% of the pathogens isolated from the bloodstream were Gram-positive bacteria, and approximately half of them were viridans group streptococci. All seven microbiologically documented episodes of pneumonia were caused by viruses. Infection-related mortality was 4.9%, and all three patients died due to viral infection. Our data demonstrate that a reduced-intensity chemotherapeutic regimen in children with AML and Down syndrome is still associated with high morbidity. Although no patient died due to bacteria or fungi, viruses were responsible for all lethal events. Future studies, therefore, have to focus on the impact of viruses on morbidity and mortality of patients with AML and Down syndrome. © 2016 Wiley Periodicals, Inc.

  6. First-trimester maternal serum human thyroid-stimulating hormone in chromosomally normal and Down syndrome pregnancies

    NARCIS (Netherlands)

    Pratt, JJ; de Wolf, BTHM; Mantingh, A

    Maternal serum human thyroid-stimulating hormone (TSH) levels were investigated in chromosomally normal and Down syndrome pregnancies to determine whether TSH can be used as a marker for Down syndrome in the first trimester. Measurements were conducted on stored serum samples collected from 23 Down

  7. Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.

    Science.gov (United States)

    Leiva Portocarrero, Maria Esther; Garvelink, Mirjam M; Becerra Perez, Maria Margarita; Giguère, Anik; Robitaille, Hubert; Wilson, Brenda J; Rousseau, François; Légaré, France

    2015-09-24

    Prenatal screening tests for Down syndrome (DS) are routine in many developed countries and new tests are rapidly becoming available. Decisions about prenatal screening are increasingly complex with each successive test, and pregnant women need information about risks and benefits as well as clarity about their values. Decision aids (DAs) can help healthcare providers support women in this decision. Using an environmental scan, we aimed to identify publicly available DAs focusing on prenatal screening/diagnosis for Down syndrome that provide effective support for decision making. Data sources searched were the Decision Aids Library Inventory (DALI) of the Ottawa Patient Decision Aids Research Group at the Ottawa Health Research Institute; Google searches on the internet; professional organizations, academic institutions and other experts in the field; and references in existing systematic reviews on DAs. Eligible DAs targeted pregnant women, focused on prenatal screening and/or diagnosis, applied to tests for fetal abnormalities or aneuploidies, and were in French, English, Spanish or Portuguese. Pairs of reviewers independently identified eligible DAs and extracted characteristics including the presence of practical decision support tools and features to aid comprehension. They then performed quality assessment using the 16 minimum standards established by the International Patient Decision Aids Standards (IPDASi v4.0). Of 543 potentially eligible DAs (512 in DALI, 27 from experts, and four on the internet), 23 were eligible and 20 were available for data extraction. DAs were developed from 1996 to 2013 in six countries (UK, USA, Canada, Australia, Sweden, and France). Five DAs were for prenatal screening, three for prenatal diagnosis and 12 for both). Eight contained values clarification methods (personal worksheets). The 20 DAs scored a median of 10/16 (range 6-15) on the 16 IPDAS minimum standards. None of the 20 included DAs met all 16 IPDAS minimum standards

  8. Levendefødte i Norge 1967-76 med diagnosen Down syndrom – en registerstudie

    Directory of Open Access Journals (Sweden)

    Tor Bjerkedal

    2009-10-01

    Full Text Available Diagnoser av Down syndrom registrert i Medisinsk fødselsregister (MFR er sammenholdt med diagnoser registrert i stønadsregistrene i Ny arbeids- og velferdsetat (NAV, tidligere Rikstrygdeverket for alle levendefødte i årene 1967-76, i alt 629 928. Formålet med studien har vært å vurdere hvor ofte diagnosen Down syndrom registreres i MFR i forhold til forekomsten av tilstanden og validiteten av diagnosene, og å følge opp sannsynlige tilfeller av Down syndrom til ung voksen alder i forhold til overlevelse, utdanning, arbeidsaktivitet, uførepensjonering og familiedannelse. Oppfølgingen er muliggjort ved registerkoblinger, godkjent av Datatilsynet og utført av Statistisk sentralbyrå. Totalt var diagnosen Down syndrom registrert i 784 tilfeller, 1,25 per 1000 levendefødte, noe høyere for gutter, 1,31, enn for piker 1,19. Falske positive i MFR utgjorde 4,9 prosent mens falske negative er anslått til 27,8 prosent. Det vil si at 72,2 prosent av Down syndrom tilfellene blir diagnostisert ved fødsel og registrert i MFR. Dette anslag er beheftet med atskillig usikkerhet. Usikkerheten skyldes omfanget av fosterindisert abort, uensartet diagnostikk, varierende meldefrekvens og mangelfull registrering. Å redusere usikkerheten ville kreve systematisk tilgang til relevante helseregistre og at helsevesenets samlede kunnskap om personer med definerte lidelser kan innhentes løpende. Personvern, slik dette forståes og praktiseres i dag, vil sannsynligvis hindre en slik løsning. En systematisk oppfølging er imidlertid viktig for velferden for utsatte grupper i vårt samfunn. I foreliggende undersøkelse kan det dokumenteres at personer med Down syndrom ikke oppnår den arbeidsaktivitet som utdanningen de har gjennomført skulle tilsi. At noen få tilfeller ikke synes å være uførepensjonert før 30-års alderen kan også være et interessant funn. En avklaring på dette forhold kunne gi nyttig informasjon for velferdsarbeidet for personer med

  9. Simple View of Reading in Down's syndrome: the role of listening comprehension and reading skills.

    Science.gov (United States)

    Roch, Maja; Levorato, M Chiara

    2009-01-01

    According to the 'Simple View of Reading' (Hoover and Gough 1990), individual differences in reading comprehension are accounted for by decoding skills and listening comprehension, each of which makes a unique and specific contribution. The current research was aimed at testing the Simple View of Reading in individuals with Down's syndrome and comparing their profiles with typically developing first graders. Listening comprehension and the ability to read both words and non-words was compared in two groups with the same level of reading comprehension: 23 individuals with Down's syndrome aged between 11 years 3 months and 18 years 2 months and 23 first-grade typically developing children aged between 6 years 2 months and 7 years 4 months. The results indicate that at the same level of reading comprehension, individuals with Down's syndrome have less developed listening comprehension and more advanced word recognition than typically developing first graders. A comparison of the profiles of the two groups revealed that reading comprehension level was predicted by listening comprehension in both groups of participants and by word-reading skills only in typically developing children. The Simple View of Reading model is confirmed for individuals with Down's syndrome, although they do not show the reading profile of typically developing first graders; rather, they show an atypical profile similar to that of 'poor comprehenders' (Cain and Oakhill 2006). The crucial role of listening comprehension in Down's syndrome is also discussed with reference to the educational implications.

  10. Association of Down's syndrome and water fluoride level: a systematic review of the evidence

    Directory of Open Access Journals (Sweden)

    McDonagh Marian

    2001-07-01

    Full Text Available Abstract Background A review of the safety and efficacy of drinking water fluoridation was commissioned by the UK Department of Health to investigate whether the evidence supported a beneficial effect of water fluoridation and whether there was any evidence of adverse effects. Down's syndrome was one of the adverse effects reported. The aim of this review is to examine the evidence for an association between water fluoride level and Down's syndrome. Methods A systematic review of research. Studies were identified through a comprehensive literature search, scanning citations and online requests for papers. Studies in all languages which investigated the incidence of Down's syndrome in areas with different levels of fluoride in their water supplies were included. Study inclusion and quality was assessed independently by 2 reviewers. A qualitative analysis was conducted. Results Six studies were included. All were ecological in design and scored poorly on the validity assessment. The estimates of the crude relative risk ranged from 0.84 to 3.0. Four studies showed no significant associations between the incidence of Down's syndrome and water fluoride level and two studies by the same author found a significant (p Conclusions The evidence of an association between water fluoride level and Down's syndrome incidence is inconclusive.

  11. Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome.

    Science.gov (United States)

    Caraci, Filippo; Iulita, M Florencia; Pentz, Rowan; Flores Aguilar, Lisi; Orciani, Chiara; Barone, Concetta; Romano, Corrado; Drago, Filippo; Cuello, A Claudio

    2017-12-15

    Individuals with Down syndrome are at increased risk of developing Alzheimer's disease due to increase gene dosage resulting from chromosome 21 triplication. Although virtually all adults with Down syndrome will exhibit the major neuropathological hallmarks that define Alzheimer's disease, not all of them will develop the clinical symptoms associated with this disorder (i.e. dementia). Therefore, a good understanding of the pathophysiology of Alzheimer's disease in Down syndrome will be crucial for the identification of novel pharmacological targets to develop disease-modifying therapies for the benefit of Down syndrome individuals and for Alzheimer's sufferers alike. The study of biomarkers will also be essential for the development of better screening tools to identify dementia at its incipient stages. This review discusses the best-validated pharmacological targets for the treatment of cognitive impairment and Alzheimer's disease in Down syndrome. We further examine the relevance of newly discovered biological markers for earlier dementia diagnosis in this population. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

  12. STATUS GIZI DAN STATUS IODIUM PADA BALITA DENGAN SUSPECT DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    Hastin Dyah K.

    2012-10-01

    Full Text Available Background: Nutritional status is one of the factor that determines the human resources and quality of life. Toddlers are one of vulnerable groups for nutritional problems. One of the nutrition problem in Indonesia is Iodine deficiency disorder. Clinical manifestations are not only endemic goiter and cretins, but also abortion, stillbirth, and congenital abnormalities. Congenital abnormalities are commonly found in areas ofendemic iodine deficiency disorder such as Down Syndrome. Objectives: This study aims to determine the iodine nutrition status of children under jive with Down Syndrome Suspect in endemic areas ofiodine deficiency disorder. Method: This research is descriptive study with cross sectional design. The study was conducted in Magelang district, which is endemic iodine deficiency disorder. Total sample of30 under jive years old with Down Syndrome Suspect. Result: The result showed that the nutritional status of respondents based on the weight/age index was 50% had good nutritional status. According to height/age index as much as 70% are short and very short. Based on weight/height index was 73,3% with normal nutritional status. At least 33% of children with Down Syndrome Suspect accompanied hypothyroidism.  Keywords: Suspect Down Syndrome, Nutritional Status, Iodine Status

  13. Pain perception in people with Down syndrome: a synthesis of clinical and experimental research

    Science.gov (United States)

    McGuire, Brian E.; Defrin, Ruth

    2015-01-01

    People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain perception of people with Down syndrome. In this review paper, we evaluated the available clinical and experimental evidence. Some experimental studies of acute pain have indicated that pain threshold was higher than normal but only when using a reaction time method to measure pain sensitivity. However, when reaction time is not part of the calculation of the pain threshold, pain sensitivity in people with Down syndrome is in fact lower than normal (more sensitive to pain). Clinical studies of chronic pain have shown that people with an intellectual disability experience chronic pain and within that population, people with Down syndrome also experience chronic pain, but the precise prevalence of chronic pain in Down syndrome has yet to be established. Taken together, the literature suggests that people with Down syndrome experience pain, both acute and chronic, with at least the same frequency as the rest of the population. Furthermore, the evidence suggests that although acute pain expression appears to be delayed, once pain is registered, there appears to be a magnified pain response. We conclude by proposing an agenda for future research in this area. PMID:26283936

  14. Evidence for preserved novel word learning in Down syndrome suggests multiple routes to vocabulary acquisition.

    Science.gov (United States)

    Mosse, Emma K; Jarrold, Christopher

    2011-08-01

    Three studies investigated novel word learning, some requiring phonological production, each involving between 11 and 17 individuals with Down syndrome, and between 15 and 24 typically developing individuals matched for receptive vocabulary. The effect of stimuli wordlikeness and incidental procedure-based memory demands were examined to see whether these may account for an apparent impairment in word learning in Down syndrome demonstrated in earlier research. Paired associate word and nonword learning tasks were presented, requiring participants to learn the names of novel characters. The nonword stimuli varied in the degree of wordlikeness in 2 studies. A third study investigated extraneous task demand. Across 3 studies, there was no suggestion of a word learning deficit associated with Down syndrome (η(2)(p) for the main effect of group of .03, .11, and .03, respectively), despite the level of phonological representation required. There was evidence that novel word learning by participants with Down syndrome exceeded that which their verbal short-term memory capacity would predict. Vocabulary acquisition in Down syndrome may not rely on verbal short-term memory to the same extent as in typically developing children, lending support to the suggestion that new word learning may be underpinned by an additional memory process.

  15. Early increased density of cyclooxygenase-2 (COX-2 immunoreactive neurons in Down syndrome

    Directory of Open Access Journals (Sweden)

    Maria Mulet

    2017-06-01

    Full Text Available Neuroinflammation is one of the hallmarks of Alzheimer’s disease. One of the enzymes involved in neuroinflammation, even in early stages of the disease, is COX-2, an inducible cyclooxygenase responsible for the generation of eicosanoids and for the generation of free radicals. Individuals with Down syndrome develop Alzheimer’s disease early in life. Previous studies pointed to the possible overexpression of COX-2 and correlated it to brain regions affected by the disease. We analysed the COX-2 expression levels in individuals with Down syndrome and in young, adult and old mice of the Ts65Dn mouse model for Down syndrome. We have observed an overexpression of COX-2 in both, Down syndrome individuals and mice. Importantly, mice already presented an overexpression of COX-2 at postnatal day 30, before neurodegeneration begins; which suggests that neuroinflammation may underlie the posterior neurodegeneration observed in individuals with Down syndrome and in Ts65Dn mice and could be a factor for the premature appearance of Alzheimer’s disease.

  16. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

    Science.gov (United States)

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

    2011-02-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  17. Sleep disorders and their clinical significance in children with Down syndrome.

    Science.gov (United States)

    Stores, Gregory; Stores, Rebecca

    2013-02-01

    Our aim was to review basic aspects of sleep disorders in children with Down syndrome in the light of present-day findings of such disorders in children in general, including other groups of children with developmental disabilities. A literature search of adverse developmental effects of sleep disturbance, types of sleep disturbance in children with Down syndrome, their aetiology, including possible contributions of physical and psychiatric comorbidities and medication effects, principles of assessment and diagnosis, and treatment issues, was carried out. Sleep disturbance is particularly common in children with developmental disorders including Down syndrome. Although there are just three basic sleep problems (sleeplessness or insomnia, excessive daytime sleepiness, and parasomnias) there are many possible underlying causes (sleep disorders), the nature of which dictates the particular treatment required. In children with Down syndrome, in addition to the same influences in other children, various comorbid physical and psychiatric conditions are capable of disturbing sleep. Possible adverse medication effects also need to be considered. Screening for sleep disorders and their causes should be routine; positive findings call for detailed diagnosis. Management should acknowledge the likely multifactorial aetiology of the sleep disorders in Down syndrome. Successful treatment can be expected to alleviate significantly the difficulties of both child and family. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  18. The effect of rehabilitation exercises on the gait in people with Down syndrome

    Directory of Open Access Journals (Sweden)

    M Marchewka

    2008-12-01

    Full Text Available Objective: The following question was set: Do special exercises decrease disturbances of gait in people with Down syndrome and allow for spacio-temporal parameters closer in values to the variables achieved by healthy people? The research involved 10 persons with Down syndrome, including 9 male pupils and 1 female pupil of the Complex of Special Schools in Cracow, Poland, aged 16-22, with the average age of 17.8±2.69. All the subjects had documented moderate and considerable mental handicap, with the average IQ equalling 37.6±4.29, measured in the Terman-Merrill scale. Background: People with Down syndrome have problems with keeping their balance, both while standing and walking. The dysfunction of lower extremities, manifesting itself in a gait different from the norm of healthy people, releases compensation mechanisms levelling disturbances and leading to unavoidable overloads, and in consequence to the damage of different segments of the locomotor system. Methods: Vicon 250, a computerized system of a three-dimensional analysis of motion, connected with five video cameras working in infrared was implemented to assess the parameters of gait. Results: All the spacio-temporal parameters of gait in people with Down syndrome were significantly improved after the period of rehabilitation, and in the case of step frequency equalled the norm of healthy people. Interpretation. The implementation of additional exercises affects the improvement of the gait parameters of mentally handicapped people, suffering from Down syndrome.

  19. Normal obstetric ultrasound reduces the risk of down syndrome in fetuses of older mothers

    International Nuclear Information System (INIS)

    Anderson, N. G.; Luehr, B.; Ng, R.

    2006-01-01

    The objective of this study is to determine whether a normal fetal morphology ultrasound scan in women older than 35 years reduces the risk of aneuploidy. We reviewed the results of amniocentesis and second trimester sonogram in all women older than 35 years from 1991 to 1995. None had prior screening. We excluded fetuses with structural anomalies. We determined the sensitivity and specificity of minor markers in detecting Down syndrome and also determined the reduction in risk of a normal sonogram. Among the 2060 women older than 35 years giving birth during the study period, 16 (0.78%) delivered an infant with Down syndrome. Of the 16 fetuses, two had no prenatal testing or ultrasound, two had invasive testing but no second trimester sonogram, five had a normal sonogram and seven had one or more sonographic markers of Down syndrome. At least 17% of women older than 35 years did not participate in prenatal testing or ultrasound. Ultrasound detected Down syndrome with a sensitivity of 59% (95% confidence interval: 45-72%), a false-positive rate of 10.6% (9.4-11.8%) and a positive predictor value of 1 in 9. The likelihood of having normal karyotype if the sonogram was normal was 0.46 (0.31-0.61). In women older than 35 years, a normal second trimester sonogram reduces the risk of Down syndrome by more than 50%. At least 17% of women older than 35 years do not participate in prenatal testing or ultrasound

  20. Students with Down syndrome in primary education in the Netherlands: regular or special? : effects of school placement on the development and the social network of children with Down syndrome and conditions for inclusive education

    OpenAIRE

    de Graaf, Gerrit

    2014-01-01

    Since the 1980s in the Netherlands more and more children with Down syndrome are entering regular schools. Three research questions were explored. 1. What does the development of Down syndrome regular elementary school placement look like expressed in numbers? In chapter 2 and chapter 3, a demographic model for birth and population prevalence of Down syndrome was developed and validated. For the Netherlands, birth prevalence currently is estimated at 14 per 10,000 with around 275 total annual...

  1. Induced pluripotent stem cells as a cellular model for studying Down Syndrome

    Directory of Open Access Journals (Sweden)

    Brigida AL

    2016-11-01

    Full Text Available Down Syndrome (DS, or Trisomy 21 Syndrome, is one of the most common genetic diseases. It is a chromosomal abnormality caused by a duplication of chromosome 21. DS patients show the presence of a third copy (or a partial third copy of chromosome 21 (trisomy, as result of meiotic errors. These patients suffer of many health problems, such as intellectual disability, congenital heart disease, duodenal stenosis, Alzheimer's disease, leukemia, immune system deficiencies, muscle hypotonia and motor disorders. About one in 1000 babies born each year are affected by DS. Alterations in the dosage of genes located on chromosome 21 (also called HSA21 are responsible for the DS phenotype. However, the molecular pathogenic mechanisms of DS triggering are still not understood; newest evidences suggest the involvement of epigenetic mechanisms. For obvious ethical reasons, studies performed on DS patients, as well as on human trisomic tissues are limited. Some authors have proposed mouse models of this syndrome. However, not all the features of the syndrome are represented. Stem cells are considered the future of molecular and regenerative medicine. Several types of stem cells could provide a valid approach to offer a potential treatment for some untreatable human diseases. Stem cells also represent a valid system to develop new cell-based drugs and/or a model to study molecular disease pathways. Among stem cell types, patient-derived induced pluripotent stem (iPS cells offer some advantages for cell and tissue replacement, engineering and studying: self-renewal capacity, pluripotency and ease of accessibility to donor tissues. These cells can be reprogrammed into completely different cellular types. They are derived from adult somatic cells via reprogramming with ectopic expression of four transcription factors (Oct3/4, Sox2, c-Myc and Klf4; or, Oct3/4, Sox2, Nanog, and Lin28. By reprogramming cells from DS patients, it is possible to obtain new tissue with

  2. Prevalence of Dental Anomalies in Permanent Dentition of Brazilian Individuals with Down Syndrome.

    Science.gov (United States)

    Cuoghi, Osmar Aparecido; Topolski, Francielle; Perciliano de Faria, Lorraine; Occhiena, Carla Machado; Ferreira, Nancy Dos Santos Pinto; Ferlin, Camila Ribeiro; Rogério de Mendonça, Marcos

    2016-01-01

    The aim of this study was to evaluate the incidence of dental anomalies in the permanent dentition of individuals with Down Syndrome (DS) to increase the knowledge on the dental issues in this syndrome. One hundred and five panoramic X-rays of patients with DS (61 males and 44 females), aged 7 to 42 years were used. The data were statistically analyzed using bivariate analyses test ( p Dental anomalies were observed in 50.47% of the sample. More than one anomaly was observed in 9.52% of the individuals. The most frequent dental anomalies were hypodontia and microdontia (16.19%), followed by retained tooth (10.47%), taurodontism (9.52%), supernumerary teeth (5.71%), macrodontia (2.85%) and root dilaceration (0.95%). There was no statistically significant difference between genders for any of the anomalies. A high prevalence of dental anomalies was observed in individuals with DS. The results of the present study reinforce the importance of good dental care, offering a greater basis for professionals who provide dental service to these patients.

  3. Implicit Procedural Learning in Fragile X and Down Syndrome

    Science.gov (United States)

    Bussy, G.; Charrin, E.; Brun, A.; Curie, A.; des Portes, V.

    2011-01-01

    Background: Procedural learning refers to rule-based motor skill learning and storage. It involves the cerebellum, striatum and motor areas of the frontal lobe network. Fragile X syndrome, which has been linked with anatomical abnormalities within the striatum, may result in implicit procedural learning deficit. Methods: To address this issue, a…

  4. Processos cognitivos e plasticidade cerebral na Síndrome de Down Cognitive processes and brain plasticity in Down Syndrome

    Directory of Open Access Journals (Sweden)

    Maria de Fátima Minetto Caldeira Silva

    2006-04-01

    Full Text Available muito tem se falado sobre a Síndrome de Down. Mas um ponto se destaca: suas dificuldades cognitivas. Quais as áreas mais afetadas? Como potencializá-las? Essas são perguntas que instigam muitos pesquisadores. Com a efetivação da inclusão escolar, ampliaram-se as buscas por respostas, uma vez que, nas últimas décadas, ficou evidente que pessoas com Síndrome de Down têm potencial cognitivo a desenvolver. Deixamos claro aqui que não estamos negando a constatação de lesões em função de alterações genéticas, mas a possibilidade de minimizá-las. Esse artigo tem o intuito de abordar e discutir algumas das descobertas relacionadas aos processos cognitivos na Síndrome de Down, procurando evidenciar a importância da plasticidade cerebral no desenvolvimento e na aquisição da aprendizagem. Assim, procuraremos fazer um apanhado dos processos cognitivos na Síndrome de Down, correlacionando-os com os conceitos gerais de plasticidade cerebral e verificar como esses conhecimentos podem favorecer a aprendizagem. Temos plena consciência de que não esgotaremos o tema, mas pretendemos iniciar uma reflexão. Para isso, faremos uma revisão de literatura, contemplando as pesquisas, desde as mais antigas até as mais recentes, numa tentativa de entender melhor como fazer uso dessas descobertas.much has been said about Down Syndrome. But one aspect stands out: their cognitive difficulties. Which areas are most affected? How can they be enhanced? Such questions have instigated many researchers. As inclusion in the schools is being achieved, such issues have augmented the search for answers, since, during the last decades have shown that people with Down Syndrome do have cognitive potential to develop. We would like to point out at this time that we don't intend to deny the evidence of real lesions due to genetic alterations, but rather to highlight the possibility of minimizing their negative effect. The aim of this article is to address and

  5. What factors influence health professionals to use decision aids for Down syndrome prenatal screening?

    Science.gov (United States)

    Lépine, Johanie; Leiva Portocarrero, Maria Esther; Delanoë, Agathe; Robitaille, Hubert; Lévesque, Isabelle; Rousseau, François; Wilson, Brenda J; Giguère, Anik M C; Légaré, France

    2016-09-05

    Health professionals are expected to engage pregnant women in shared decision making to help them make informed values-based decisions about prenatal screening. Patient decision aids (PtDAs) foster shared decision-making, but are rarely used in this context. Our objective was to identify factors that could influence health professionals to use a PtDA for decisions about prenatal screening for Down syndrome during a clinical pregnancy follow-up. We planned to recruit a purposive sample of 45 health professionals (obstetrician-gynecologists, family physicians and midwives) involved in the care of pregnant women in three clinical sites (15 per site). Participating health professionals first watched a video showing two simulated consecutive prenatal follow-up consultations during which a pregnant woman, her partner and a health professional used a PtDA about Down syndrome prenatal screening. Participants were then interviewed about factors that would influence their use of the PtDA. Questions were based on the Theoretical Domains Framework. We performed content analyses of transcribed verbatim interviews. Out of 42 eligible health professionals approached, 36 agreed to be interviewed (86 % response rate). Of these, 27 were female (75 %), nine were obstetrician-gynecologists (25 %), 15 were family physicians (42 %), and 12 were midwives (33 %), with a mean age of 42.1 ± 11.6 years old. We identified 35 distinct factors reported by 20 % or more participants that were mapped onto 10 of the 12 of the Theoretical Domains Framework domains. The six most frequently mentioned factors influencing use of the PtDA were: 1) a positive appraisal (n = 29, 81 %, beliefs about consequences domain); 2) its availability in the office (n = 27, 75 %, environmental context and resources domain); 3) colleagues' approval (n = 27, 75 %, social influences domain); 4) time constraints (n = 26, 72 %, environmental context and resources domain); 5) finding it a

  6. [Foetal therapy for Down syndrome: a pro-active ethical reflection].

    Science.gov (United States)

    de Wert, G M W R; Dondorp, W J

    2016-01-01

    Prenatal screening for Down syndrome has to date focused on facilitating the informed choice to continue or not with a pregnancy. The non-invasive prenatal test (NIPT) for Down syndrome does potentially offer the option to apply foetal neurocognitive therapy for Down syndrome (FTDS). Current research in animal models looks promising and therefore a proactive ethical reflection in relation to clinical trials is urgently needed. This discussion includes an exploration of the ethical aspects of FTDS. There seem to be no convincing a priori objections on the basis of the social model of disability. Arguments in terms of (respect for) autonomy, wellbeing and justice seem to in principle support such therapy. Still, both the conditions for sound clinical trials and the implications of possible effective therapy for current prenatal screening need further scrutiny.

  7. The effect of induced abortion on the incidence of Down's syndrome in Hawaii.

    Science.gov (United States)

    Smith, R G; Gardner, R W; Steinhoff, P; Chung, C S; Palmore, J A

    1980-01-01

    There was a decrease in the recorded number of cases and in the incidence rate of Down's syndrome in Hawaii between 1963-1969 and 1971-1977. Independent of all other factors, induced abortion accounted for 43 percent of the decline in the number of cases, based on the assumption that a substantial number of clandestine abortions were being performed in Hawaii before the 1970 legalization of abortion. However, if we assume that very few illegal abortions were performed prior to 1970, there would have been an actual 3.5 percent increase in the number of cases of Down's syndrome in the absence of legal abortion. Declining pregnancy rates and decreasing age-specific incidence rates of Down's syndrome also contributed to the drop in the number of cases between 1963-1969 and 1971-1977.

  8. Emotion Recognition in Children With Down Syndrome: Influence of Emotion Label and Expression Intensity.

    Science.gov (United States)

    Cebula, Katie R; Wishart, Jennifer G; Willis, Diane S; Pitcairn, Tom K

    2017-03-01

    Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched, typically developing children (all groups N = 21) under four conditions: veridical vs. exaggerated emotions and emotion-labelling vs. generic task instructions. In all groups, exaggerating emotions facilitated recognition accuracy and speed, with emotion labelling facilitating recognition accuracy. Overall accuracy and speed did not differ in the children with Down syndrome, although recognition of fear was poorer than in the typically developing children and unrelated to emotion label use. Implications for interventions are considered.

  9. Care demands on mothers caring for a child with Down syndrome: Malaysian (Sarawak) mothers' perspectives.

    Science.gov (United States)

    Chan, Kim Geok; Lim, Khatijah Abdullah; Ling, How Kee

    2015-10-01

    This paper examines the experiences of mothers caring for a child with Down syndrome in the Malaysian (Sarawak) context. Qualitative interviews were conducted with 26 biological mothers of children with Down syndrome aged 18 years and below. They were accessed through selected child health clinics, community-based rehabilitation centres and schools using purposive sampling within two regions in Sarawak, one of the two Borneo States of Malaysia. Major themes emerging within the context of care demands were children's health, developmental delays, daily needs and behaviour issues. The insights obtained into the care demands experienced by mothers of children with Down syndrome have several implications for practice by care professionals. © 2014 Wiley Publishing Asia Pty Ltd.

  10. Equine Assisted Therapy and Changes in Gait for a Young Adult Female with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Katherine J. Coffey

    2015-10-01

    Full Text Available The purpose of this study was to examine the effects of equine assisted therapy on selected gait parameters in a person with Down syndrome. One female participant with Down syndrome completed two therapeutic horseback riding programs, each consisting of six riding sessions. Specific gait characteristics were analyzed with a trend analysis of the data by examining the means of the different variables. The trend analysis revealed a difference in stride length as well as hip and knee angle. These results indicate that over the course of the two therapeutic horseback riding programs, changes in gait occurred. Therefore, therapeutic horseback riding may have the potential to benefit gait characteristics and stability in young adult females with Down syndrome; however, further research is warranted.

  11. Self-reported stress among adolescent siblings of individuals with autism spectrum disorder and Down syndrome.

    Science.gov (United States)

    Shivers, Carolyn M; McGregor, Casey; Hough, Ashlea

    2017-11-01

    Despite the prevalence of studies showing increased stress among mothers of individuals with autism spectrum disorders, few studies have examined general stress among typically developing siblings. This study used an online survey to compare the levels of self-reported stress between adolescent siblings of individuals with autism spectrum disorder and Down syndrome. Sibling of individuals with autism reported significantly more overall stress than did siblings of individuals with Down syndrome, as well as more stress specifically attributed to the brother/sister with autism. The two groups did not differ on perceived social support from family and friends. In linear regression models, the disability group (autism vs Down syndrome) was significantly related to sibling stress above and beyond target child behavior problems, perceived social support, and demographic factors. These results help shed light on the daily experiences of adolescent siblings of individuals with autism and call for more research into potential interventions to address increased stress levels.

  12. Down syndrome and personalized medicine: changing paradigms from genotype to phenotype to treatment.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2013-03-01

    Personalized Medicine represents a paradigm shift in the conceptual framework of research and clinical care. This shift argues that Down syndrome is a treatable condition, and therefore we must invest in research to improve outcomes. Individuals with Down syndrome have varying levels of increased risk for a number of co-morbidities, including infantile spasms and early onset Alzheimer's disease. We will review research in these associated conditions to show how investigators are attempting to identify biomarkers, including genomic, epigenomic, proteomic and metabolomic "signatures" that will predict who may be at risk to develop a specific co-morbidity prior to onset and will provide novel targets for therapeutic development. This Personalized Medicine approach will permit predictive and preventive approaches for individuals at increased risk for co-morbidities. The support for clinical trials among individuals with Down syndrome is beginning to overcome the "culture of intractability" that has surrounded this disorder. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  13. Thyroid dysfunction in Down's syndrome and screening for hypothyroidism in children and adolescents using capillary TSH measurement.

    LENUS (Irish Health Repository)

    Murphy, J

    2008-02-01

    Thyroid dysfunction is more common in individuals with Down\\'s syndrome (DS) than in the general population, whose clinical features can mask the presenting signs and symptoms of hypothyroidism. Biochemical screening is necessary; however, venepuncture may be difficult.

  14. [A patient with Noonan syndrome].

    Science.gov (United States)

    Bins, A; Gortzak, R A Th

    2013-12-01

    Noonan syndrome is a relatively common autosomal dominant genetic disorder which is characterised by typical facial features, congenital heart diseases and small stature. In 50% of the cases the syndrome is caused by a mutation on the PTPN11-gen. The expression of symptoms associated with Noonan syndrome can be very mild in nature and facial features usually become less pronounced with age, which can sometimes make a correct diagnosis more difficult. Despite a wide range of associated symptoms most adults with Noonan syndrome can be self-sustaining, with a good quality of life. It is important that the dentist is well-informed about this syndrome due to the heart diseases and bleeding disorders which can be present with these patients and may influence a dentist's choice of therapy when invasive treatment is indicated.

  15. Links between sleep and daytime behaviour problems in children with Down syndrome.

    Science.gov (United States)

    Esbensen, A J; Hoffman, E K; Beebe, D W; Byars, K C; Epstein, J

    2018-02-01

    In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports of daytime behaviour problems among school-age children with Down syndrome. Thirty school-age children with Down syndrome wore an actigraph watch for a week at home at night. Their parent completed ratings of the child's sleep during that same week. Their parent and teacher completed a battery of measures to assess daytime behaviour. Parent reports of restless sleep behaviours on the Children's Sleep Habits Questionnaire, but not actigraph-measured sleep efficiency, was predictive of parent and teacher behavioural concerns on the Nisonger Child Behaviour Rating Form and the Vanderbilt ADHD Rating Scales. Actigraph-measured sleep period and parent-reported sleep duration on the Children's Sleep Habits Questionnaire was predictive of daytime parent-reported inattention. Actigraph-measured sleep period was predictive of parent-reported hyperactivity/impulsivity. The study findings suggest that sleep problems have complex relationships to both parent-reported and teacher-reported daytime behaviour concerns in children with Down syndrome. These findings have implications for understanding the factors impacting behavioural concerns and their treatment in school-age children with Down syndrome. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  16. Short-term memory in Down syndrome: applying the working memory model.

    Science.gov (United States)

    Jarrold, C; Baddeley, A D

    2001-10-01

    This paper is divided into three sections. The first reviews the evidence for a verbal short-term memory deficit in Down syndrome. Existing research suggests that short-term memory for verbal information tends to be impaired in Down syndrome, in contrast to short-term memory for visual and spatial material. In addition, problems of hearing or speech do not appear to be a major cause of difficulties on tests of verbal short-term memory. This suggests that Down syndrome is associated with a specific memory problem, which we link to a potential deficit in the functioning of the 'phonological loop' of Baddeley's (1986) model of working memory. The second section considers the implications of a phonological loop problem. Because a reasonable amount is known about the normal functioning of the phonological loop, and of its role in language acquisition in typical development, we can make firm predictions as to the likely nature of the short-term memory problem in Down syndrome, and its consequences for language learning. However, we note that the existing evidence from studies with individuals with Down syndrome does not fit well with these predictions. This leads to the third section of the paper, in which we consider key questions to be addressed in future research. We suggest that there are two questions to be answered, which follow directly from the contradictory results outlined in the previous section. These are 'What is the precise nature of the verbal short-term memory deficit in Down syndrome', and 'What are the consequences of this deficit for learning'. We discuss ways in which these questions might be addressed in future work.

  17. Trainee teachers' attitudes to inclusive education for children with Down's syndrome.

    Science.gov (United States)

    Wishart, J G; Manning, G

    1996-02-01

    The attitudes of 231 trainee teachers towards inclusive education for children with Down's syndrome were surveyed in two UK colleges of education, one in Scotland and one in Northern Ireland. While the right to educational integration for children with special educational needs was widely endorsed, considerable reservations were expressed about its implementation in practice. Only 13% of respondents indicated that they would welcome the opportunity to teach in an integrated setting and 96% felt that their professional training did not prepare them to meet this challenge. Many underestimated potential levels of achievement in children with Down's syndrome and over half wrongly associated the condition with very short life expectancy.

  18. Investigation and analysis of etiology of down's syndrome in children of high background radiation area

    International Nuclear Information System (INIS)

    Zha Yongru

    1985-01-01

    In order to find out what caused the differences in incidences of Down's syndrome between the children in high background radiation area and those in control area, investigation and analysis were carried ou in 5 aspects based on the original data and the information from the previous survey. These are: the incidences of congenital malformations in normal areas, the age distribution of children examined, the maternal age, the dates of birth of afflicted children, and the radiation exposure of mothers. The results suggested that the higher incidence of Down's syndrome in high background area might be related to the materal age. Further studies are needed to arrive at a conclusion

  19. Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

    Science.gov (United States)

    Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

    2016-05-15

    Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.

  20. Augmentative and alternative communication in children with Down's syndrome: a systematic review.

    Science.gov (United States)

    Barbosa, Renata Thaís de Almeida; de Oliveira, Acary Souza Bulle; de Lima Antão, Jennifer Yohanna Ferreira; Crocetta, Tânia Brusque; Guarnieri, Regiani; Antunes, Thaiany Pedrozo Campos; Arab, Claudia; Massetti, Thaís; Bezerra, Italla Maria Pinheiro; de Mello Monteiro, Carlos Bandeira; de Abreu, Luiz Carlos

    2018-05-11

    The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of 'augmentative and alternative communication' used in children with Down's syndrome. This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication. Studies published in English were selected if they met the following inclusion criteria: (1) study of children with a diagnosis of DS, and (2) assistive technology and/or augmentative and alternative communication analysis in this population. A total of 1087 articles were identified. Thirteen articles met the inclusion criteria. The instruments most used by the studies were speech-generating devices (SGDs) and the Picture Exchange Communication System (PECS). Twelve instruments that provided significant aid to the process of communication and socialization of children with DS were identified. These instruments increase the interaction between individuals among this population and their peers, contributing to their quality of life and self-esteem.

  1. Hearing impairment in genotyped Wolfram syndrome patients.

    NARCIS (Netherlands)

    Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

  2. Memory profiles of Down, Williams, and fragile X syndromes: implications for reading development.

    Science.gov (United States)

    Conners, Frances A; Moore, Marie S; Loveall, Susan J; Merrill, Edward C

    2011-06-01

    The purpose of this review was to understand the types of memory impairments that are associated with intellectual disability (ID, formerly called mental retardation) and the implications of these impairments for reading development. Specifically, studies on working memory, delayed memory and learning, and semantic/conceptual memory in Down syndrome, Williams syndrome, and fragile X syndrome were examined. A distinct memory profile emerged for each of the 3 etiologies of ID. Memory profiles are discussed in relation to strengths and weaknesses in reading skills in these three etiologies. We suggest that reading instruction be designed to capitalize on relatively stronger memory skills while providing extra support for especially challenging aspects of reading.

  3. Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test.

    Science.gov (United States)

    Jarrold, Christopher; Baddeley, Alan D; Phillips, Caroline

    2007-02-01

    Previous studies have suggested that Williams syndrome and Down syndrome may be associated with specific short-term memory deficits. Individuals with Williams syndrome perform relatively poorly on tests of visuo-spatial short-term memory and individuals with Down syndrome show a relative deficit on verbal short-term memory tasks. However, these patterns of impairments may reflect the impact of generally impaired visuo-spatial processing skills in Williams syndrome, and verbal abilities in Down syndrome. The current study explored this possibility by assessing long-term memory among 15 individuals with Williams syndrome and 20 individuals with Down syndrome using the Doors and People test, a battery which assesses recall and recognition of verbal and visual information. Individuals' performance was standardised for age and level of intellectual ability with reference to that shown by a sample of 110 typically developing children. The results showed that individuals with Down syndrome have no differential deficits in long-term memory for verbal information, implying that verbal short-term memory deficits in this population are relatively selective. Instead both individuals with Down syndrome and with Williams syndrome showed some evidence of relatively poor performance on tests of long-term memory for visual information. It is therefore possible that visuo-spatial short-term memory deficits that have previously been demonstrated in Williams syndrome may be secondary to more general problems in visuo-spatial processing in this population.

  4. Perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Siti Fitria Ulfah

    2016-12-01

    Full Text Available Background: The number of children with down syndrome in Surabaya has reached 924 children. Prevalence of gingivitis and dental caries (91% and 93.8%, respectively occurs in children with down syndrome aged 6 to 20 years. Oral and dental health problems are found in children with down syndrome because they have physical and motoric limitation in maintaining oral and dental hygiene, thus require parental care from mother. Perceived parenting style includes responsiveness and demandingness. Perceived parenting is crucial for mother whose children have Down syndrome in order to guide their health behavior, particularly to maintain oral and dental health. Purpose: The study aimed to analyze correlation between perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome. Method: This cross sectional analytical study involved 40 mothers of children aged 7-13 years with Down syndrome enrolled in Special Education Elementary Schools Surabaya and Association of Parents of Children with Down syndrome Surabaya. Data of perceived parenting style (responsiveness and demandingness and mother’s behavior in maintaining dental health were obtained by questionnaire. Composition of each item in questionnaire of perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome was passed through validity and reliability test. Data analysis was carried out using multiple linear regression correlation test. Result: This present study showed that perceived parenting style is significantly correlated with mother’s behavior in maintaining dental health of children with Down syndrome (R = 0.630, p = 0.000, with perceived parental responsiveness as a strong predictor. Mean score and standard deviation of perceived parental responsiveness and demandingness were 33.00±2.99 and 15.55±1.99, respectively. Conclusion: Perceived maternal parenting style in children with Down

  5. A calcineurin inhibitory protein overexpressed in Down's syndrome interacts with the product of a ubiquitously expressed transcript

    Directory of Open Access Journals (Sweden)

    H.C.S. Silveira

    2004-06-01

    Full Text Available The Down's syndrome candidate region 1 (DSCR1 protein, encoded by a gene located in the human chromosome 21, interacts with calcineurin and is overexpressed in Down's syndrome patients. As an approach to clarifying a putative function for this protein, in the present study we used the yeast two-hybrid system to identify DSCR1 partners. The two-hybrid system is a method that allows the identification of protein-protein interactions through reconstitution of the activity of the yeast GAL 4 transcriptional activator. The gene DSCR1 fused to the GAL 4 binding domain (BD was used to screen a human fetal brain cDNA library cloned in fusion with the GAL 4 activation domain (AD. Three positive clones were found and sequence analysis revealed that all the plasmids coded for the ubiquitously expressed transcript (UXT. UXT, which is encoded in human Xp11, is a 157-amino acid protein present in both cytosol and nucleus of the cells. This positive interaction of DSCR1 and UXT was confirmed in vivo by mating the yeast strain AH109 (MATaexpressing AD-UXT with the strain Y187 (MATalpha expressing BD-DSCR1, and in vitro by co-immunoprecipitation experiments. These results may help elucidate a new function for DSCR1 and its participation in Down's syndrome pathogenesis.

  6. Psychological Support for Young Adults with Down Syndrome: Dohsa-Hou Program for Maladaptive Behaviors and Internalizing Problems

    Directory of Open Access Journals (Sweden)

    Haruo Fujino

    2017-09-01

    Full Text Available Psychological and psychiatric dysfunction is a major problem in a substantial proportion of young adults with Down syndrome. Some patients develop psychiatric issues, such as depressive, obsessive-compulsive, or psychotic-like disorders, in their late adolescence or young adulthood. Furthermore, these individuals may experience moderate to severe emotional and psychological distress. Development of a psychosocial treatment to address these issues is needed in addition to psychotropic medication. The current study reports two cases of young adults with Down syndrome, who presented psychiatric symptoms and marked disruption in their daily lives. These individuals participated in a Dohsa-hou treatment program. Following treatment, adaptive levels, maladaptive behaviors, and internalizing problems were evaluated by the Vineland Adaptive Behavior Scales-II. Participants showed improvement in maladaptive behaviors and internalizing problems; however, improvement in these areas may be influenced by baseline severity of the problems. This case report suggests that Dohsa-hou could be an effective therapeutic approach for maladaptive and internalizing problems in adults with Down syndrome.

  7. Audio-visual speech perception in infants and toddlers with Down syndrome, fragile X syndrome, and Williams syndrome.

    Science.gov (United States)

    D'Souza, Dean; D'Souza, Hana; Johnson, Mark H; Karmiloff-Smith, Annette

    2016-08-01

    Typically-developing (TD) infants can construct unified cross-modal percepts, such as a speaking face, by integrating auditory-visual (AV) information. This skill is a key building block upon which higher-level skills, such as word learning, are built. Because word learning is seriously delayed in most children with neurodevelopmental disorders, we assessed the hypothesis that this delay partly results from a deficit in integrating AV speech cues. AV speech integration has rarely been investigated in neurodevelopmental disorders, and never previously in infants. We probed for the McGurk effect, which occurs when the auditory component of one sound (/ba/) is paired with the visual component of another sound (/ga/), leading to the perception of an illusory third sound (/da/ or /tha/). We measured AV integration in 95 infants/toddlers with Down, fragile X, or Williams syndrome, whom we matched on Chronological and Mental Age to 25 TD infants. We also assessed a more basic AV perceptual ability: sensitivity to matching vs. mismatching AV speech stimuli. Infants with Williams syndrome failed to demonstrate a McGurk effect, indicating poor AV speech integration. Moreover, while the TD children discriminated between matching and mismatching AV stimuli, none of the other groups did, hinting at a basic deficit or delay in AV speech processing, which is likely to constrain subsequent language development. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome.

    Science.gov (United States)

    Saida, Satoshi; Watanabe, Ken-ichiro; Sato-Otsubo, Aiko; Terui, Kiminori; Yoshida, Kenichi; Okuno, Yusuke; Toki, Tsutomu; Wang, RuNan; Shiraishi, Yuichi; Miyano, Satoru; Kato, Itaru; Morishima, Tatsuya; Fujino, Hisanori; Umeda, Katsutsugu; Hiramatsu, Hidefumi; Adachi, Souichi; Ito, Etsuro; Ogawa, Seishi; Ito, Mamoru; Nakahata, Tatsutoshi; Heike, Toshio

    2013-05-23

    Transient abnormal myelopoiesis (TAM) is a clonal preleukemic disorder that progresses to myeloid leukemia of Down syndrome (ML-DS) through the accumulation of genetic alterations. To investigate the mechanism of leukemogenesis in this disorder, a xenograft model of TAM was established using NOD/Shi-scid, interleukin (IL)-2Rγ(null) mice. Serial engraftment after transplantation of cells from a TAM patient who developed ML-DS a year later demonstrated their self-renewal capacity. A GATA1 mutation and no copy number alterations (CNAs) were detected in the primary patient sample by conventional genomic sequencing and CNA profiling. However, in serial transplantations, engrafted TAM-derived cells showed the emergence of divergent subclones with another GATA1 mutation and various CNAs, including a 16q deletion and 1q gain, which are clinically associated with ML-DS. Detailed genomic analysis identified minor subclones with a 16q deletion or this distinct GATA1 mutation in the primary patient sample. These results suggest that genetically heterogeneous subclones with varying leukemia-initiating potential already exist in the neonatal TAM phase, and ML-DS may develop from a pool of such minor clones through clonal selection. Our xenograft model of TAM may provide unique insight into the evolutionary process of leukemia.

  9. Using Visual Strategies to Support Verbal Comprehension in an Adolescent with Down Syndrome

    Science.gov (United States)

    Lecas, Jean-Francois; Mazaud, Anne-Marie; Reibel, Esther; Rey, Arnaud

    2011-01-01

    It has been frequently reported that children with Down syndrome have deficits in verbal short-term memory while having relatively good performance in visual short-term memory tasks. Such verbal deficits have a detrimental effect on various high-level cognitive processes, most notably language comprehension. In this study, we report the case of an…

  10. Sleep Disturbance and Expressive Language Development in Preschool-Age Children with Down Syndrome

    Science.gov (United States)

    Edgin, Jamie O.; Tooley, Ursula; Demara, Bianca; Nyhuis, Casandra; Anand, Payal; Spanò, Goffredina

    2015-01-01

    Recent evidence has suggested that sleep may facilitate language learning. This study examined variation in language ability in 29 toddlers with Down syndrome (DS) in relation to levels of sleep disruption. Toddlers with DS and poor sleep (66%, n = 19) showed greater deficits on parent-reported and objective measures of language, including…

  11. Verbal Short-Term Memory Performance in Pupils with Down Syndrome

    Science.gov (United States)

    Abdelhameed, Hala; Porter, Jill

    2010-01-01

    Research has shown that verbal short-term memory span is shorter in individuals with Down syndrome than in typically developing individuals of equivalent mental age, but little attention has been given to variations within or across groups. Differences in the environment and in particular educational experiences may play a part in the relative…

  12. Relationship between family quality of life and day occupations of young people with Down syndrome.

    Science.gov (United States)

    Foley, Kitty-Rose; Girdler, Sonya; Downs, Jenny; Jacoby, Peter; Bourke, Jenny; Lennox, Nick; Einfeld, Stewart; Llewellyn, Gwynnyth; Parmenter, Trevor R; Leonard, Helen

    2014-09-01

    To explore relationships between family quality of life, day occupations and activities of daily living (ADL) of young persons with Down syndrome. Data were collected from 150 families with a young person with Down syndrome aged 16-30 years participating in the Down syndrome "Needs Opinions Wishes" database. Data described the young person's characteristics (including functional abilities, behaviour and day occupations) and family characteristics (including income, family and community supports and quality of life). Compared to families of young people attending open employment, families of young people participating in sheltered employment tended to report poorer family quality of life, after adjusting for personal characteristics, behaviour and income (coeff -6.78, 95 % CI -14.38, 0.81). Family supports reduced this relationship (coeff -6.00, 95 % CI -12.76, 0.76). Families of young people with greater functioning in ADL reported better family quality of life regardless of personal and environmental factors (coeff 0.45, 95 % CI 0.05, 0.85) and inclusion of family factors such as family supports reduced this association (coeff 0.29, 95 % CI -0.10, 0.67). Participation of young people with Down syndrome in open employment may positively influence family quality of life. Services that facilitate functioning in ADL and assist the families in accessing suitable family supports have the potential to positively influence family quality of life.

  13. Sentence Memory of Individuals with Down's Syndrome and Typically Developing Children

    Science.gov (United States)

    Seung, H.-K.; Chapman, R.

    2004-01-01

    Individuals with Down's syndrome (DS) have an auditory short-term memory span disproportionately shorter than the non-verbal mental age (MA). This study evaluated the Baddeley model's claim that verbal short-term memory deficits might arise from slower speaking rates (and thus less material rehearsed in a 2 s passive store) by using the sentence…

  14. Respite Care, Stress, Uplifts, and Marital Quality in Parents of Children with Down Syndrome

    Science.gov (United States)

    Norton, Michelle; Dyches, Tina Taylor; Harper, James M.; Roper, Susanne Olsen; Caldarella, Paul

    2016-01-01

    Parents of children with disabilities are at risk for high stress and low marital quality; therefore, this study surveyed couples (n = 112) of children with Down syndrome (n = 120), assessing whether respite hours, stress, and uplifts were related to marital quality. Structural equation modeling indicated that respite hours were negatively related…

  15. Cognitive coping strategies and stress in parents of children with Down syndrome: a prospective study

    NARCIS (Netherlands)

    van der Veek, Shelley M. C.; Kraaij, Vivian; Garnefski, Nadia

    2009-01-01

    The purpose of this study was to explore the cross-sectional and prospective relationships between cognitive coping strategies and parental stress in parents of children with Down syndrome. A total of 621 participants filled out questionnaires, including the Cognitive Emotion Regulation

  16. Brain Size and Cerebral Glucose Metabolic Rate in Nonspecific Retardation and Down Syndrome.

    Science.gov (United States)

    Haier, Richard J.; And Others

    1995-01-01

    Brain size and cerebral glucose metabolic rate were determined for 10 individuals with mild mental retardation (MR), 7 individuals with Down syndrome (DS), and 10 matched controls. MR and DS groups both had brain volumes of about 80% compared to controls, with variance greatest within the MR group. (SLD)

  17. Systematic Review of Cognitive Development across Childhood in Down Syndrome: Implications for Treatment Interventions

    Science.gov (United States)

    Patterson, T.; Rapsey, C. M.; Glue, P.

    2013-01-01

    Background: There is conjecture regarding the profile of cognitive development over time in children with Down syndrome (DS). Characterising this profile would be valuable for the planning and assessment of intervention studies. Method: A systematic search of the literature from 1990 to the present was conducted to identify longitudinal data on…

  18. Growing up with Down syndrome : The developing child and its parents

    NARCIS (Netherlands)

    Marchal, J.P.

    2017-01-01

    This thesis consists of two parts. The first part describes the results of a follow-up study concerning early life thyroid hormone treatment in children with Down syndrome. The purpose of this treatment during the first two years of life was to stimulate development and growth. Beside the results of

  19. Simultaneous Treatment of Grammatical and Speech-Comprehensibility Deficits in Children with Down Syndrome

    Science.gov (United States)

    Camarata, Stephen; Yoder, Paul; Camarata, Mary

    2006-01-01

    Children with Down syndrome often display speech-comprehensibility and grammatical deficits beyond what would be predicted based upon general mental age. Historically, speech-comprehensibility has often been treated using traditional articulation therapy and oral-motor training so there may be little or no coordination of grammatical and…

  20. Expressive Vocabulary in Young Children with Down Syndrome: From Research to Treatment.

    Science.gov (United States)

    Kumin, Libby; Councill, Cheryl; Goodman, Mina

    1999-01-01

    Expressive vocabulary was studied in 130 children (ages 1 to 5 years) with Down syndrome. Although there was continuous growth in expressive referential vocabulary from birth through 5 years, age 5 was found to be an important developmental marker for multiword combinations and grammatical vocabulary. (Author/CR)