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For people with Down syndrome, family members, caregivers and professionals.

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Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus

Author: Santoro et al. (2022) - Frontiers in Neurology

Abstract Objective:  To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background:  The

Evidence of Neuroinflammation and Immunotherapy Responsiveness in Individuals with Down Syndrome Regression Disorder

Author: Santoro et al. (2022) - Journal of Neurodevelopmental Disorders

Abstract Background:  Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abn

Down Syndrome EyeWiki

Author: American Academy of Ophthalmology - Eye Encyclopedia

EyeWiki is an Eye Encyclopedia developed by the American Academy of Ophthalmology with content contributed by ophthalmologists (eye physicians and surgeons). There is a Down syndrome page wit

Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

Author: Altuna, Gimenez, & Fortea - Journal of Clinical Medicine (2021)

Abstract Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living

Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance

Author: Rosso et al. - Pediatrics (2020)

Abstract Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adapt

Unexplained Regression in Down Syndrome: 35 Cases from an International Down Syndrome Database

Author: Santoro et al. - Genetics in Medicine (2019)

Abstract: Purpose:  An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease.  M

Cancer Screening in Adults with Down Syndrome: A Proposal

Author: Rethore, Rousse, Satge - European Journal of Medical Genetics (2019)

Abstract Background : The specific distribution of cancers in Down syndrome (DS) calls into question the validity of screening policies for cancer surveillance as implemented for the general populatio

Catatonia in Down Syndrome: Systematic Approach to Diagnosis, Treatment and Outcome Assessment Based on a Case Series of Seven Patients

Author: Miles, Takahashi, Muckerman, Nowell, Ithman - Neuropsychiatric Disease and Treatment - 2019

Abstract Objective:  The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-

Benefits and Harms of Mammography Screening for Women with Down Syndrome

Author: Alagoz et al. - Journal of General Internal Medicine (2019)

Abstract: Background:  Women with Down syndrome have a lower breast cancer risk and significantly lower life expectancies than women without Down syndrome. Therefore, it is not clear whether

The Pattern of Malignancies in Down Syndrome and Its Potential Context with the Immune System

Author: Satge & Seidel - Frontiers in Immunology (2018)

Abstract The immune surveillance theory of cancer posits that the body's immune system detects and destroys randomly occurring malignant cells. This theory is based on the observation of the i

Regression in Adolescents and Adults with Down Syndrome

Author: Chicoine & Capone - Chapter in Physical Health of Adults with Intellectual and Developmental Disabilities

Abstract: There has been a growing number of clinical case reports of regression in adolescents and adults with Down syndrome who have shown unexpected and severe regression in cognitive and adaptive

Low Risk of Solid Tumors in Persons with Down Syndrome

Author: Hasle, Friedman, Olsen, & Rasmussen - Genetics in Medicine (2016)

Abstract Purpose:  The aim of this study was to investigate cancer incidence in a large cohort of persons with Down syndrome.  Methods:  Down syndrome was identified from th

Breast Cancer Screening for Women with Down Syndrome

Author: Chicoine, Roth, Chicoine, & Sulo - Intellectual and Developmental Disabilities (2015)

Abstract: This study examined mammogram reports of women with Down syndrome (DS) treated in the largest medical facility specifically serving adults with DS in the United States. Records of 684 women

Catatonia in Down Syndrome: A Treatable Cause of Regression

Author: Ghaziuddin, Nassiri, & Miles (2015) - Neuropsychiatric Disease and Treatment

Abstract Objective:  The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression

Neurobehavioral Disorders in Children, Adolescents, and Young Adults with Down Syndrome

Author: Capone et al. - American Journal of Medical Genetics Part C (2006)

Abstract: The term dual-diagnosis refers to a person with mental retardation and psychiatric disorder. Most children with Down syndrome (DS) do not have a psychiatric or neurobehavioral disorder. Curr

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