Down Syndrome

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... 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 ...

Association of Down's syndrome and testicular cancer.

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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.

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

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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.

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

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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.

Caries in Portuguese children with Down syndrome

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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.

Caries in Portuguese children with Down syndrome.

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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.

Neurofibromatosis, Down's syndrome, and acquired abnormalities

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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.

Roentgenologic abnormalities in Down's syndrome

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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.

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.)

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.)

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

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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

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 ...

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

Periodontal disease in individuals with Down Syndrome: genetic focus

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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.

Down Syndrome = Sindrome de Down.

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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…

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)

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

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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…

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

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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

Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation

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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.

Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation.

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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.

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

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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.

Facts about Down Syndrome

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... 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 ...

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

Bone health in Down syndrome.

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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.

Macular structural characteristics in children with Down syndrome.

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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.

Down Syndrome (For Kids)

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... 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 ...

Stigma in Iranian Down Syndrome

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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.

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

Incidence and outcome of renal anomalies in children with down syndrome

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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.

Down syndrome preleukemia and leukemia.

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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.

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

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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.

Endocrine manifestations of Down syndrome.

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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.

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.)

Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

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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.

Depression and Anorexia Nervosa of Persons with Down Syndrome.

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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…

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

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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

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

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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

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

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

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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…

Impairment of circulating endothelial progenitors in Down syndrome

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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

Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

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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.

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

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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.

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

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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

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)

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

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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.

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

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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.)

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.)

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...

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...

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

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)

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

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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

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)

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...

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.)

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 ...

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

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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

Mastoid abnormalities in Down syndrome

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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.

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.)

Pericentrin expression in Down's syndrome.

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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.

Binaural masking release in children with Down syndrome.

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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

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

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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.

Gait patterns in Prader-Willi and Down syndrome patients

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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.

Bilateral condylar resorption in down syndrome.

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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.

Dancing with Down Syndrome: A Phenomenological Case Study

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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;…

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

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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.

Pre-Menstrual Syndrome in Women with Down Syndrome

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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…

Call for change in prenatal counseling for Down syndrome.

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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.

Memory and Neuropsychology in Down Syndrome

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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…

Incontinence in persons with Down Syndrome.

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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.

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

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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.

Amniotic Fluid Cells Proliferation in Normal and Down Syndrome Subjects

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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.

Risikovurdering for Downs syndrom i Danmark--sekundaerpublikation

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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....

Pain in Down's Syndrome

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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

What Are Common Symptoms of Down Syndrome?

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... 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 ...

Down Syndrome and Alzheimer's Disease

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... 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 ...

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

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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

Down syndrome and ionizing radiation.

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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.

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

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

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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.

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

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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.)

Ophthalmic Disorders in Adults with Down Syndrome

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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.

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

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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.

Breastfeeding children with Down syndrome

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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...

Major congenital anomalies in babies born with Down syndrome

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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...

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

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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.

Down syndrome: coercion and eugenics.

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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.

The Dental Needs and Treatment of Patients with Down Syndrome.

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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.

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

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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.

Prenatal treatment of Down syndrome: a reality?

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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.

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

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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.

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

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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.

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.

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

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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.

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)

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

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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.

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

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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...

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

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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.

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...

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.)

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

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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.

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

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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.

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

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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.

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

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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.

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

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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…

Prenatal treatment prevents learning deficit in Down syndrome model.

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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.

What Causes Down Syndrome?

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... 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, ...

Aging and Down Syndrome

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... 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 ...

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

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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.

Clinical Characteristics of Dysphagia in Children with Down Syndrome.

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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.

Fine motor skills in children with Down syndrome

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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.

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

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

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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.

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

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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.

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

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

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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.

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.)

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 ...

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.

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.

[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.

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.

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...

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....

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.

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.

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.

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.

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.

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....

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...

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.

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

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

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

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.

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.

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

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

Directory of Open Access Journals (Sweden)

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.

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 ...

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.

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.

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 ...

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...

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

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...

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.

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.

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.

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,…

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…

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

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

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...

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",…

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.

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...

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

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

Directory of Open Access Journals (Sweden)

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.

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.)

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.

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.

[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.

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…

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 ...

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.

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),…

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....

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.

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)

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…

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…

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

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.

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

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 ...

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

Directory of Open Access Journals (Sweden)

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.

STATUS GIZI DAN STATUS IODIUM PADA BALITA DENGAN SUSPECT DOWN SYNDROME

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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

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…

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

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…

INCIDENCE OF STUTTERING IN SCHOOL-AGE CHILDREN WITH DOWN SYNDROME

Directory of Open Access Journals (Sweden)

Nevzeta SALIHOVIĆ

2012-03-01

Full Text Available The main purpose of this study was to examine the incidence (frequency and stuttering severity in the school-age children with Down syndrome. The sample was consisted of 37 school-age children with Down syndrome, both male and female. The study was conducted in the following institutions: Institute of Special Education and Rehabilitation for Children with Intellectual Disabilities "Mjedenica"; Centre for Education, Training and Employment of Mentally Retarded Children, Children with Autism and Cerebral palsy "Vladimir Nazor" in Sarajevo; Primary School of Special Education „Zenica“; Primary school "Kovačići" Sarajevo; "Association of United Civic Actions – DUGA" in Sarajevo; and The Association "Be my friend" in Ilijaš. All of the subjects were individually examined. The results showed that 13,51 % of the children with Down syndrome stuttered, and the total result of stuttering severity indicates a moderate stuttering. These results show that children with Down syndrome should be enrolled intensively in speech therapy in order to help them overcome their stuttering, to facilitate their everyday communication and to teach them how to cope with stuttering.

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

Directory of Open Access Journals (Sweden)

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.

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)

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.

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)…

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.

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...

Children with Down Syndrome: Life Stories of Parents

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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.

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.

Outcome of acute lymphoblastic leukemia in children with down syndrome-Polish pediatric leukemia and lymphoma study group report.

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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.

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

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

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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.

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....

Down Syndrome and the aging process: a systematic review

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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”.  

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...

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...

Score of Fine Motor Skill in Children with Down Syndrome using Nintendo Wii

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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.

Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test.

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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.

Quality of life of parents with Down syndrome children

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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.

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.

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...

Down syndrome screening methods in Iranian pregnant women

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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.

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.

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…

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…

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…

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.

[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.

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

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.

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

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.)

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…

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.

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...

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.

Immunological efficacy of Vaccination against Measles in Children with Down syndrome

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S. P. Kaplina

2011-01-01

Full Text Available The data of current vaccination process of cellular, humoral immunity and specific antibody formation in 41 children with Down syndrome at the age of 1 year to 6 years old is observed. To prevent easles used measles vaccine (n=12, divaccine -measles-mumps (n=21 and or Priorix vaccine (n=8. The comparison group consisted of 63 children without Down syndrome. The post-vaccination period in 97,6% of children with Down syndrome cases are asymptomatic, only 2,4% of children mentioned layering of intercurrent diseases. The immunological status in children with Down syndrome is characterized by a significant decrease in the  umber leucocytes, lymphocytes, CD3+, CD4+, CD8+ and absolute number of CD20+, but functional activity of the cells is preserved. By 30 days after immunization they have increased leucocytes, lymphocytes, CD 95+cells. The number of antibodies significantly increased (6,63±0,33 compared to 5,79±0,32 log2, р < 0,05.

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...

[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.

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…

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…

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

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.

Early increased density of cyclooxygenase-2 (COX-2 immunoreactive neurons in Down syndrome

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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.

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

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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…

Perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome

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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

Reduced salivary flow and colonization by mutans streptococci in children with Down syndrome

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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.

Parent-reported health-related quality of life of children with Down syndrome: a descriptive study.

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Shields, Nora; Leonard, Helen; Munteanu, Shannon; Bourke, Jennifer; Lim, Polly; Taylor, Nicholas F; Downs, Jenny

2018-04-01

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. A cross-sectional survey was conducted with parents of 75 children and adolescents (43 males, 32 females) with Down syndrome aged 5 to 18 years (mean age 13y 2mo, SD 4y 8mo). The proxy-report KIDSCREEN-27 questionnaire was administered and five dimensions of health-related quality of life were measured. Data were analysed descriptively and compared with normative data. Total group mean scores for psychological well-being, autonomy and parent relation, and school environment dimensions were within normal threshold values, whereas mean scores for physical well-being, and social support and peers dimensions, were poorer. For participants with Down syndrome aged 8 to 18 years, the difference with normative data for proxy-reported physical well-being, psychological well-being, and social support and peers dimensions favoured typically developing children. Adolescents (13-18y) with Down syndrome scored poorer on all dimensions than children (5-12y) with Down syndrome. Our findings assist a better understanding of the lived experiences of children and adolescents with Down syndrome, as perceived by their parents, and suggest aspects of health that could be influenced to optimize their quality of life. Proxy-reported psychological well-being and autonomy were within the normal range for children with Down syndrome. Physical well-being and social support scores were significantly lower than normative data. Proxy-reported scores for adolescents with Down syndrome were consistently poorer than for children with Down syndrome and the differences were clinically important. © 2018 Mac Keith Press.

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 ...

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

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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.

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…

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)

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.

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,

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)

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…

[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.

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.

Acomparative Study Comparing Low-dose Step-up Versus Step-down in Polycystic Ovary Syndrome Resistant to Clomiphene

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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.

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

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.

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…

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)

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

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.

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...

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,

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…

Congenital Chylothorax in a Newborn with Down Syndrome

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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.

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.

Psychological Support for Young Adults with Down Syndrome: Dohsa-Hou Program for Maladaptive Behaviors and Internalizing Problems

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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.

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...

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.

Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

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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.

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

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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…

Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

Energy Technology Data Exchange (ETDEWEB)

Biko, David M. [Pennsylvania Hospital, Department of Radiology, Philadelphia, PA (United States); Schwartz, Michael; Anupindi, Sudha A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Altes, Talissa A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); University of Virginia, Charlottesville, VA (United States)

2008-03-15

Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

International Nuclear Information System (INIS)

Biko, David M.; Schwartz, Michael; Anupindi, Sudha A.; Altes, Talissa A.

2008-01-01

Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

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

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…

Levendefødte i Norge 1967-76 med diagnosen Down syndrom – en registerstudie

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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

Physical activity patterns of youth with Down syndrome.

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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.

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 ...

TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult

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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.

Bone mineral density in adults with Down`s syndrome

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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.

The relation between salivary sIgA level and caries incidence in Down syndrome children

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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

Pharmacological interventions for cognitive decline in people with Down syndrome.

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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

Pain sensitivity of children with Down syndrome and their siblings: quantitative sensory testing versus parental reports.

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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.

Language and Verbal Short-Term Memory Skills in Children with Down Syndrome: A Meta-Analytic Review

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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…

A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

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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…

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

Mathematics interventions for children and adolescents with Down syndrome: a research synthesis.

Science.gov (United States)

Lemons, C J; Powell, S R; King, S A; Davidson, K A

2015-08-01

Many children and adolescents with Down syndrome fail to achieve proficiency in mathematics. Researchers have suggested that tailoring interventions based on the behavioural phenotype may enhance efficacy. The research questions that guided this review were (1) what types of mathematics interventions have been empirically evaluated with children and adolescents with Down syndrome?; (2) do the studies demonstrate sufficient methodological rigor?; (3) is there evidence of efficacy for the evaluated mathematics interventions?; and (4) to what extent have researchers considered aspects of the behavioural phenotype in selecting, designing and/or implementing mathematics interventions for children and adolescents with Down syndrome? Nine studies published between 1989 and 2012 were identified for inclusion. Interventions predominantly focused on early mathematics skills and reported positive outcomes. However, no study met criteria for methodological rigor. Further, no authors explicitly considered the behavioural phenotype. Additional research using rigorous experimental designs is needed to evaluate the efficacy of mathematics interventions for children and adolescents with Down syndrome. Suggestions for considering the behavioural phenotype in future research are provided. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

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

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...

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.

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

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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…

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.

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

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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…

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…

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 ( ...

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

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.…

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)

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…

Is the Good-Imitator-Poor-Talker Profile Syndrome-Specific in Down Syndrome?: Evidence from Standardised Imitation and Language Measures

Science.gov (United States)

Vanvuchelen, M.; Feys, H.; De Weerdt, W.

2011-01-01

The emergence of the Down syndrome (DS) behavioural phenotype during early development may be of great importance for early intervention. The main goal of this study was to investigate the good-imitator-poor-talker developmental profile in DS at preschool age. Twenty children with Down syndrome (DS; mean nonverbal mental age NMA 1 y10 m) and 15…

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.

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.

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.

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.

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

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

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…

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

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.

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.

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

Predicting the presence of sleep-disordered breathing in children with Down syndrome.

Science.gov (United States)

Nehme, Joy; LaBerge, Robert; Pothos, Mary; Barrowman, Nick; Hoey, Lynda; Monsour, Andrea; Kukko, Madelaine; Katz, Sherri Lynne

2017-08-01

Sleep-disordered breathing (SDB) is highly prevalent in children with Down syndrome. Given the scarcity of resources and the presence of risk factors for SDB in this population, the objective of this study is to identify the clinical predictors of SDB, which would assist prioritization of children with Down syndrome for SDB evaluation. A retrospective cohort study was conducted on children enrolled in the Down syndrome clinic at CHEO who underwent polysomnography in 2004-2014. Total apnea-hypopnea index (AHI) or obstructive AHI (OAHI) > 5 events/hour was considered clinically significant. Associations between SDB and concurrent diagnoses, referral reasons, and sleep symptoms assessed by questionnaire were examined using Pearson's chi-square test or Fisher's exact test as appropriate. Univariate and multivariate logistic regression analyses were used to examine the predictors of SDB. SDB was present in 42.9% of 119 children, with its highest prevalence at age 8 years. Symptoms were not significantly associated with AHI > 5 events/hour or OAHI > 5 events/hour. Gastroesophageal reflux was associated with lower odds of OAHI > 5 events/hour on univariate testing (odds ratio 0.16, 95% CI 0.04-0.72; p = 0.02) and multivariate analysis (odds ratio 0.05, 95% CI 0.0006-0.50; p = 0.002). SDB is highly prevalent at all ages in children with Down syndrome. Symptoms did not predict SDB in this population, although gastroesophageal reflux may mimic SDB, which indicates that clinicians should continue to perform ongoing surveillance for SDB throughout the lifespan of children with Down syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

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…

Homocysteine, an indicator of methylation pathway alternation in Down syndrome and its regulation by folic acid therapy

Directory of Open Access Journals (Sweden)

Hala M El-Gendy

2007-06-01

Full Text Available

BACKGROUND: Down syndrome (DS is a complex genetic disease. Some clinical features of patients with this syndrome could be related to functional folate deficiency. The purpose of this study was to evaluate the total homocysteine (T-Hcy metabolism in DS children and to determine whether the supplementation with folic acid therapy would shift the genetically induced metabolic imbalance or not.

RESULTS: Our results revealed that Down syndrome children had a significant decrease in serum plasma T-Hcy level after the treatment with folic acid [11.79 ± 0.92 vs. 14.41 ± 4.93 μmol/L]. A significant negative correlation was found between T-Hcy and folic acid serum levels [r = -0.112; P<0.05].

Hippotherapy and respiratory muscle strength in children and adolescents with Down syndrome

Directory of Open Access Journals (Sweden)

Valéria Sovat de Freitas Costa

Full Text Available Introduction Individuals with Down syndrome may have decreased respiratory muscle strength due to hypotonia, a common characteristic in this population. Objective To analyze the effects of a hippotherapy program on respiratory muscle strength in individuals with Down syndrome. Materials and methods The study included 41 subjects, 20 of which were in the hippotherapy practicing group (PG and 21 of which were in the non-practicing group (NPG. Study subjects were of both sexes, aged 7-13 years, and all diagnosed with Down syndrome. A manovacuometer was used to measure respiratory muscle strength, following the protocol proposed by Black and Hyatt (23. Statistical analysis was performed by means of descriptive distribution. After verifying normality and homoscedasticity of the variables, the Mann-Whitney test was used to determine differences between the means of the two groups (PG and NPG, and the Spearman’s rank correlation coefficient test was used to view possible relationships with age and time practicing hippotherapy. Significance was set at p < 0.05. Results and discussion Individuals who practiced hippotherapy showed improvements in both inspiratory and expiratory respiratory muscle strength, although no significant difference was demonstrated. Conclusion This study demonstrates that hippotherapy benefits respiratory muscle strength in individuals with Down syndrome, and that the youngest subjects had the best results.

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…

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.

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

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....

Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

Science.gov (United States)

Visootsak, Jeannie; Huddleston, Lillie; Buterbaugh, Allison; Perkins, Adrienne; Sherman, Stephanie; Hunter, Jessica

2016-02-01

To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome. This was a cross-sectional study that consisted of 57 children with Down syndrome - 20 cases and 37 controls - of ~12-14 months of age. In both groups, we assessed the development of the child, the quality of the child's home environment, and parenting stress. Compared with the Down syndrome without CHD group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (pneurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a CHD.

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.

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

Efficacy of Noninvasive Ventilation in a Patient with Hypercapnic Respiratory Failure Complicating Eisenmenger’s Syndrome

Directory of Open Access Journals (Sweden)

Ana Jaureguizar Oriol

2017-08-01

Full Text Available Eisenmenger’s syndrome is a severe type of congenital heart disease characterized by severe pulmonary arterial hypertension. In the cases that the pressure in pulmonary circulation exceeds the systemic pressure, there appears a right-to-left shunting of blood. Consequently, the syndrome exists hypoxemia and cyanosis. Hypercapnia is not common in these patients; however, it might coexist with hypoxemic failure if there are other restrictive pathologies associated. Meanwhile, it has been described high prevalence of sleep disorders in Down syndrome. There is no evidence about the role of noninvasive ventilation in the management of these patients. We present a 39-year-old man, suffering of Down and Eisenmenger’s syndrome with multiple cardiac decompensations and obstructive sleep apnea (OSA, who was admitted to hospital due to severe somnolence, edema, and dyspnea. We observed a hypercapnic respiratory acidosis that ameliorated with noninvasive ventilation (NIV. The patient returned home with nocturnal NIV as a new treatment, and no further admission to hospital was seen in the following two years. To our knowledge, this is the first report about the utility of NIV in Eisenmenger’s and Down syndrome patients.

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…

Single stage reduction and stabilization of basilar invagination after failed prior fusion surgery in children with Down's syndrome.

Science.gov (United States)

Hedequist, Daniel; Bekelis, Kimon; Emans, John; Proctor, Mark R

2010-02-15

We describe an innovative single-stage reduction and stabilization technique using modern cervical instrumentation. We hypothesis modern instrumentation has made more aggressive surgical corrections possible and has reduced the need for transoral resection of the odontoid and traction reduction in children with basilar invagination. Craniocervical junction abnormalities, including atlantoaxial instability and progressive basilar invagination, are relatively common phenomenon in Down's syndrome patients, and can lead to chronic progressive neurologic deficits, catastrophic injury, and death. This patient population also can be a difficult one in which to perform successful stabilization and fusion. We reviewed the records and films on 2 children with Down's syndrome and atlantoaxial instability who had undergone prior occipital-cervical fusion and then presented with symptomatic progressive basilar invagination due to atlantoaxial displacement. In both cases, the children had progressive symptoms of spinal cord and brain stem compression. Multiple approaches for surgical correction, including preoperative traction and transoral odontoid resection, were considered, but ultimately it was elected to perform a single stage posterior operation. In both patients, we performed fusion takedown, intraoperative realignment with reduction of the basilar invagination, and stabilization using modern occipito-cervical instrumentation. In both children, excellent cranio-cervical realignment was achieved; along with successful fusion and improvement in clinical symptoms. In this article we will discuss the clinical cases and review the background of craniocervical junction abnormalities in Down's syndrome patients. We hypothesis modern instrumentation has made more aggressive surgical corrections possible and has reduced the need for transoral resection of the odontoid and traction reduction in children with basilar invagination.

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.

Science.gov (United States)

Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-10-01

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study.

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.

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....

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,…

Celiac disease in patients with Williams-Beuren syndrome.

Science.gov (United States)

Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

2015-01-01

Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

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.

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

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

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)

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,…

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…

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…

Core vocabulary of young children with Down syndrome

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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

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?

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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...

The effect of induced abortion on the incidence of Down's syndrome in Hawaii.

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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.

Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

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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.

Convergent validity of actigraphy with polysomnography and parent reports when measuring sleep in children with Down syndrome.

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Esbensen, A J; Hoffman, E K; Stansberry, E; Shaffer, R

2018-04-01

There is a need for rigorous measures of sleep in children with Down syndrome as sleep is a substantial problem in this population and there are barriers to obtaining the gold standard polysomnography (PSG). PSG is cost-prohibitive when measuring treatment effects in some clinical trials, and children with Down syndrome may not cooperate with undergoing a PSG. Minimal information is available on the validity of alternative methods of assessing sleep in children with Down syndrome, such as actigraphy and parent ratings. Our study examined the concurrent and convergent validity of different measures of sleep, including PSG, actigraphy and parent reports of sleep among children with Down syndrome. A clinic (n = 27) and a community (n = 47) sample of children with Down syndrome were examined. In clinic, children with Down syndrome wore an actigraph watch during a routine PSG. In the community, children with Down syndrome wore an actigraph watch for a week at home at night as part of a larger study on sleep and behaviour. Their parent completed ratings of the child's sleep during that same week. Actigraph watches demonstrated convergent validity with PSG when measuring a child with Down syndrome's total amount of sleep time, total wake time after sleep onset and sleep period efficiency. In contrast, actigraph watches demonstrated poor correlations with parent reports of sleep, and with PSG when measuring the total time in bed and total wake episodes. Actigraphy, PSG and parent ratings of sleep demonstrated poor concurrent validity with clinical diagnosis of obstructive sleep apnoea. Our current data suggest that actigraph watches demonstrate convergent validity and are sensitive to measuring certain sleep constructs (duration, efficiency) in children with Down syndrome. However, parent reports, such as the Children's Sleep Habits Questionnaire, may be measuring other sleep constructs. These findings highlight the importance of selecting measures of sleep related to

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

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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.

Symbolic interactionism: a perspective for understanding parent-nurse interactions following the birth of a child with Down syndrome.

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van Riper, M; Pridham, K; Ryff, C

1992-01-01

The birth of a child with Down syndrome is a challenge to parental and societal expectations. Feelings of shock, sadness, confusion, denial, fear, anger, guilt, and helplessness may be evoked. In this paper, the impact of stigma on individuals with Down syndrome and their families will be reviewed to clarify why interactions between parents and others need to be explored. Next, the central concepts important to the symbolic interactionist perspective will be reviewed. Then, qualitative data from an ongoing study of 90 parents of children with Down syndrome (ages 3 months to 18 years) will be presented to illustrate how symbolic interactionism can be applied to the to care of children with Down syndrome and their families. Finally, implications for nurses working with families that include a child with Down syndrome will be addressed.

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

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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

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

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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

Parenting of children with Down syndrome compared to fragile X syndrome.

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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.

Evidence for preserved novel word learning in Down syndrome suggests multiple routes to vocabulary acquisition.

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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.

Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999.

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Dolk, H; Loane, M; Garne, E; De Walle, H; Queisser-Luft, A; De Vigan, C; Addor, M C; Gener, B; Haeusler, M; Jordan, H; Tucker, D; Stoll, C; Feijoo, M; Lillis, D; Bianchi, F

2005-11-01

EUROCAT is a network of population-based registries for the epidemiologic surveillance of congenital anomalies covering approximately one quarter of births in the European Union. Down syndrome constitutes approximately 8% of cases of registered congenital anomaly in Europe, with over 7000 affected pregnancies in the 15 current member states of the European Union each year. In this paper, we aim to examine trends in the live birth prevalence of Down syndrome in Europe in the light of trends in maternal age and in prenatal diagnosis. Descriptive analysis of data from 24 EUROCAT registries, covering 8.3 million births 1980-99. Cases include live births, stillbirths and terminations of pregnancy following prenatal diagnosis. Since 1980, the proportion of births to mothers of 35 years of age and over has risen quite dramatically from 8 to 14% for the European Union as a whole, with steeper rises in some regions. By 1995-1999, the proportion of "older" mothers varied between regions from 10% to 25%, and the total prevalence (including terminations of pregnancy) of Down syndrome varied from 1 to 3 per 1000 births. Some European regions have shown a more than twofold increase in total prevalence of Down syndrome since 1980. The proportion of cases of Down syndrome which were prenatally diagnosed followed by termination of pregnancy in 1995-1999 varied from 0% in the three regions of Ireland and Malta where termination of pregnancy is illegal, to less than 50% in 14 further regions, to 77% in Paris. The extent to which terminations of pregnancy were concen trated among older mothers varied between regions. The live birth prevalence has since 1980 increasingly diverged from the rising total prevalence, in some areas remaining approximately stable, in others decreasing over time. The rise in average maternal age in Europe has brought with it an increase in the number of pregnancies affected by Down syndrome. The widespread practice of prenatal screening and termination of

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

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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…

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

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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.

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

Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates.

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Corder, Jennifer Price; Al Ahbabi, Fatima Jaber Sehmi; Al Dhaheri, Hind Saif; Chedid, Fares

2017-09-01

The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital. Key demographic findings include mean maternal age of 37 years, among the highest described in the literature. Sixty-two percent of mothers are >35 years. Over 90% of mothers received post-natal diagnosis of Down syndrome. High sex ratio, parental consanguinity, and large family size also characterize the group. The spectrum of many co-occurring conditions mirrors that of previously described populations, with some notable differences. Cardiovascular malformations are well represented, however, atrioventricular canal is not the most common. Genitourinary conditions are common, as evidenced by 12% of males with hypospadias and 15% with undescended testes. Glucose-6-phosphate dehydrogenase deficiency, alpha thalassemia trait, hypovitaminosis D, and dental caries are common in our cohort. This study describes a large hospital-based group with Down syndrome presenting to a new dedicated Down syndrome clinic in the UAE, highlighting unique demographic and co-occurring conditions found in that population. © 2017 Wiley Periodicals, Inc.

Treating Speech Comprehensibility in Students with Down Syndrome

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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…

Reported Sensory Processing of Children with Down Syndrome

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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…

Speech & Language Therapy for Children and Adolescents with Down Syndrome

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... 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 ...

Optical mapping of the brain activity in children with Down's syndrome

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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.

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

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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,…

Has prenatal screening influenced the prevalence of comorbidities associated with Down syndrome and subsequent survival rates?

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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.

Dual-Task Processing as a Measure of Executive Function: A Comparison between Adults with Williams and Down Syndromes

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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…

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

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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.

Role of metal ions in the cognitive decline of Down syndrome

Directory of Open Access Journals (Sweden)

Nakisa eMalakooti

2014-06-01

Full Text Available Down syndrome (DS, caused by trisomy of whole or part of chromosome 21 is the most common mental impairment. All Down syndrome (DS individuals suffer from cognitive decline and develop Alzheimer’s disease (AD by the age of forty. The appearance of enlarged early endosomes, followed by Amyloid β peptide deposition, the appearance of tau-containing neurofibrillary tangles and basal forebrain cholinergic neuron (BFCN degeneration are the neuropathological characteristics of this disease. In this review we will examine the role of metal ion dyshomeostasis and the genes which may be involved in these processes, and relate these back to the manifestation of age-dependant cognitive decline in DS.

Trainee teachers' attitudes to inclusive education for children with Down's syndrome.

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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.

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

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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.

Spine concerns in the Special Olympian with Down syndrome.

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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.

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