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Gait analysis and Bobath physiotherapy in adults with Down syndrome
Publication date: Available online 4 February 2016 Source:International Medical Review on Down Syndrome Author(s): I. Navas Vinagre, M.M. Bermejo Cámara, J.C. Bonito Gadella Introduction Down syndrome (DE) is a chromosomal disorder with variable phenotypic expression, although different patients share some common features. Among them, hypotonia, ligament laxity and delayed psychomotor development stand out. These traits can improve with early therapy, but remain as gait instability and pathologic compensatory strategies in adult patients. Pathological gait in DS patients has been studied previously, but the treatment...
Source: International Medical Review on Down Syndrome - February 6, 2016 Category: Disability Source Type: research

Association of Down syndrome and tuberous sclerosis and their similarities in m-TOR pathway overactivation. About a case
Conclusions Neurological and cardiac implications in patients with DS/TSC association lead to a difficult therapeutic scenario with a high rate of complications, partially due to symptomatic refractoriness. New drugs aimed at the m-TOR signalling pathway could be very useful in this picture, given its relationship to improvement of cognitive impairment and tumours associated with these two entities.
Source: International Medical Review on Down Syndrome - June 17, 2016 Category: Disability Source Type: research

Previable premature rupture of membranes with a Down syndrome foetus
We report the case of a DS Pregnancy with severe oligohydramnios since the 17th week of gestational age due to Previable Premature Rupture of Membranes. She delivered at the gestational age of 33 weeks and 3 days a healthy DS baby without signs or symptoms of neonatal pulmonary hypoplasia, skeletal abnormalities or infectious morbidity. In Previable Premature Rupture of Membranes, foetal death is common. When a viable gestational age is reached, respiratory complications and other morbidities such as sepsis are frequent. Newborns with DS have an increased risk of respiratory tract infections, what added to the risk of cong...
Source: International Medical Review on Down Syndrome - January 17, 2017 Category: Disability Source Type: research

Postural control in children, adolescents and adults with Down syndrome
Conclusions Individuals with DS have a deficit of postural control and low development of this skill as the individual matures in age.
Source: International Medical Review on Down Syndrome - January 17, 2017 Category: Disability Source Type: research

Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder.
Abstract The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls t...
Source: Journal of Communication Disorders - January 25, 2017 Category: Speech Therapy Authors: Martin GE, Barstein J, Hornickel J, Matherly S, Durante G, Losh M Tags: J Commun Disord Source Type: research

Early warning signs of autism spectrum disorder in people with Down syndrome
Conclusion Certain “warning signs” may lead to a diagnosis of ASD in the first years of life in children with DS.
Source: International Medical Review on Down Syndrome - March 6, 2017 Category: Disability Source Type: research

Assessing Down syndrome BMI and body composition
Conclusion The WHO BMI z-score in patients with DS has a correspondence with the body composition only in individuals classified as overweight or obese by BMI z-score. It was concluded that BMI is not an appropriate tool to infer the body composition in children with DS.
Source: International Medical Review on Down Syndrome - September 23, 2017 Category: Disability Source Type: research

Distinct Patterns of Repetition Suppression in Fragile X Syndrome, Down Syndrome, Tuberous Sclerosis Complex and Mutations in SYNGAP1.
Abstract Sensory processing is the gateway to information processing and more complex processes such as learning. Alterations in sensory processing is a common phenotype of many genetic syndromes associated with intellectual disability (ID). It is currently unknown whether sensory processing alterations converge or diverge on brain responses between syndromes. Here, we compare for the first time four genetic conditions with ID using the same basic sensory learning paradigm. One hundred and five participants, aged between 3 to 30 years old, composing four clinical ID groups and one control group, were recruited : F...
Source: Brain Research - November 12, 2020 Category: Neurology Authors: Côté V, Lalancette È, Knoth IS, Côté L, Agbogba K, Vannasing P, Major P, Barlaam F, Michaud J, Lippé S Tags: Brain Res Source Type: research

Hormone therapy may boost brain function for people with Down ’s syndrome, study finds
Men given a dose of gonadotropin-releasing hormone every two hours showed improvements in cognitive function in small-scale trialRegular doses of a hormone may help to boost cognitive skills in people with Down ’s syndrome, a pilot study has suggested.Researchers fitted seven men who have Down ’s syndrome with a pump that provided a dose of GnRH, a gonadotropin-releasing hormone, every two hours for six months.Continue reading...
Source: Guardian Unlimited Science - September 1, 2022 Category: Science Authors: Nicola Davis Tags: Down's syndrome Health Medical research Science Source Type: news

Doctors develop 'transformational' new DNA test for Down's syndrome
New test more accurate than current screening in detecting Down ’s, Edwards and Patau syndromes and could simplify screening process, say researchersDoctors have developed a more accurate test for Down ’s syndrome and two rarer genetic disorders that are so serious the children often die soon after birth.UK hospitals that adopted the test as part of a medical project found that it picked up nearly all affected pregnancies and slashed the number of women who wrongly tested positive, sparing them the anxiety of needless follow-up tests.Continue reading...
Source: Guardian Unlimited Science - November 9, 2017 Category: Science Authors: Ian Sample Science editor Tags: Down's syndrome Science Reproduction Pregnancy Genetics Health & wellbeing Society NHS Medical research Source Type: news

Pediatrics, Down's syndrome and allergic disease
Publication date: March 2011 Source:International Medical Review on Down Syndrome, Volume 15, Issue 1 Author(s): F. Muñoz-López Allergic diseases have a genetic basis (atopy), meaning that inheritance is a determining factor in the development of these processes. Respiratory pathologies are the most common, although reactions to foods and drugs also occur. The most common clinical manifestations occur in the skin and digestive tract, and generalised reactions (anaphylaxis) can often occur that can be severe or even fatal. The increase in respiratory pathologies in recent years has been linked to a reduction in infectio...
Source: International Medical Review on Down Syndrome - November 3, 2014 Category: Disability Source Type: research

Translating molecular advances in Down syndrome and Fragile X syndrome into therapies
Ongoing treatments for genetic developmental disorders of the central nervous system are mostly symptomatic and do not correct the genetic cause. Recent identification of common mechanisms between diseases has suggested that new therapeutic targets could be applied across intellectual disabilities with potential disease-modifying properties. The European Down syndrome and other genetic developmental disorders (DSG2D) network joined basic and clinical scientists to foster this research and carry out clinical trials.
Source: European Neuropsychopharmacology - June 7, 2018 Category: Psychiatry & Psychology Authors: Victor Faundez, Ilario De Toma, Barbara Bardoni, Renata Bartesaghi, Dean Nizetic, Rafael de la Torre, Roi Cohen Kadosh, Yann Herault, Mara Dierssen, Marie-Claude Potier, The Down Syndrome and Other Genetic Developmental Disorders ECNP Network Tags: REVIEW Source Type: research

Parental views on special educational needs provision: Cross-syndrome comparisons in Williams Syndrome, Down Syndrome, and Autism Spectrum Disorders
Conclusions and implicationsIn contrast to previous studies, educational provision and satisfaction with educational provision are syndrome-specific. These results also highlight the need for training and raising awareness about the specific needs of children with neurodevelopmental disorders. In addition, our findings suggest improved communication between parents and the school is required about the type of support children with SEND are receiving.
Source: Research in Developmental Disabilities - July 6, 2018 Category: Disability Source Type: research

Observatory: Protein in Alzheimer’s Linked to Down Syndrome
Scientists investigating Alzheimer’s found that mice lacking the protein SNX27 had the same learning and memory defects as mice with Down syndrome.
Source: NYT Health - April 8, 2013 Category: Consumer Health News Authors: By DOUGLAS QUENQUA Tags: Genetics and Heredity Research Down Syndrome Source Type: news