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

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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.  Me

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

Author: Miles et al. - 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-

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Flat Feet in People with Down Syndrome

Author: Lorri Riley, DPM - j1 insoles

The website at the link below discusses flat feet and Down syndrome. The website also contains information about j1 insoles, a line of medical grade insoles for adults and children that are less expen

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Attention-Deficit/Hyperactivity Disorder in Individuals with Down Syndrome Video

Author: Joseph Pereira - Harvard Medical School, MassGeneral Hospital for Children

The video below was narrated and presented by Joseph Pereira, a 4th year medical student at Harvard Medical School, as part of his work with the MGH Down Syndrome Program . He shares information about

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Seizures in People with Down Syndrome and Alzheimer's Disease

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We were sent a question about seizures in a person with Down syndrome who developed Alzheimer’s disease. The individual continued to experience seizures despite being treated with l

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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 f

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Seizures

Author: Aashima Ghai, DO - Family Medicine Resident, Adult Down Syndrome Center

Definition: Seizures are waves of abnormal electrical activity in the brain. The brain has multiple nerve cells that create and receive electrical impulses which help the cells communicate with each o

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Sport Preparticipation Screening for Asymptomatic Atlantoaxial Instability in Patients with Down Syndrome

Author: Tomlinson et al. - Clinical Journal of Sport Medicine (2018)

Abstract Down syndrome (DS) is a clinical syndrome comprising typical facial features and various physical and intellectual disabilities due to extra genetic material on chromosome 21, with one in eve

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Ligamentous Laxity

Author: Peter Waller, DO - Family Medicine Resident, Advocate Lutheran General Hospital

Ligaments are bands of fibrous connective tissue in our body that connect one bone to another bone and provide support to our joints. In people with Down syndrome, these ligaments tend to be loose lea

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Atlantoaxial Instability Screening

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Atlantoaxial instability (AAI) is subluxation or slippage of the first neck vertebrae in relation to the second. It is more common in people with Down syndrome (DS) and there are unique screening cons

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Strokes and Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Strokes occur when the blood supply to the brain is compromised, which deprives the brain of needed oxygen and glucose. Strokes can be caused by atherosclerotic disease (a disease in which the inside

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Startle Reflex and Myoclonus

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We were asked a question about increased “startle reflex” in a 30-year-old. Please note: The information below is for educational purposes only and is not intended to serve as a su

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Catatonia in Down Syndrome: A Treatable Cause of Regression

Author: Ghaziuddin et al. (2015) - Neuropsychiatric Disease and Treatment (2015)

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

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Knee Pain from Patellofemoral Syndrome

Author: Julia Howell, MD - Family Medicine Resident, Advocate Lutheran General Hospital

People with Down syndrome can often have laxity, or looseness, of the ligaments that support joints. The knee is no exception. The patella, or knee cap, attaches to the muscles of the upper and lower

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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. Curre

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Please note: The information on this site is for educational purposes only and is not intended to serve as a substitute for a medical, psychiatric, mental health, or behavioral evaluation, diagnosis, or treatment plan by a qualified professional. We recommend you review the educational material with your health providers regarding the specifics of your health care needs.

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