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Evaluation of Upper Airway Stimulation for Adolescents with Down Syndrome and Obstructive Sleep Apnea

Author: Yu et al. (2022) - JAMA Otolaryngology-Head & Neck Surgery

Abstract Importance :  Patients with Down syndrome have a high incidence of persistent obstructive sleep apnea (OSA) and limited treatment options. Upper airway hypoglossal stimulation has be

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Down Syndrome and Autism Spectrum Disorder (DS-ASD)

Author: Autism Speaks and DSMIG-USA DS-ASD Workgroup - Website

It is estimated that about 16-18% of people with Down syndrome also have autism spectrum disorder (ASD). The Down Syndrome Medical Interest Group-USA DS-ASD Workgroup collaborated with Autism Speaks t

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Unexplained Weight Loss

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

What can cause unexplained weight loss? We were sent a question about unexplained weight loss. We are sharing some information here for general knowledge and/or information that can be used in consult

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Possible Causes of Hair Loss

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

Hair loss can occur for many reasons. Some of these may include:  Age is a common cause not only for men but for women, too. Alopecia is an autoimmune condition (condition in which the body&a

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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

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Stroke and Vascular Disease in Down Syndrome Webinar Recording

Author: Jonathan Santoro, MD - Director of Neuroimmunology and Demyelinating Disorders Program at Children's Hospital Los Angeles, Assistant Professor of Neurology at the Keck School of Medicine at the University of Southern California

The webinar below was hosted by the Down Syndrome Association of Los Angeles. The topic was "Stroke and Vascular Disease in Down Syndrome: How to Identify and Prevent." The presenter

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Co-Occurring Down Syndrome and Autism Spectrum Disorder (DS-ASD)

Author: Down Syndrome-Autism Connection - Website

It is estimated that 16-18% of people with Down syndrome also have autism spectrum disorder. The Down Syndrome-Autism Connection  is a nonprofit organization that provides s

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Tourette Syndrome and Down Syndrome

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

Tourette syndrome (TS) is a hereditary, chronic neuromuscular condition consisting of motor and vocal tics. Tics are sudden, involuntary, brief, repetitive movements and vocalizations.* Motor tics can

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Behavior Changes in Adolescents and Adults with Down Syndrome Webinar Recording (4/28/2020)

Author: Brian Chicoine, MD and Katie Frank, PhD, OTR/L - Webinar

The video below is a recording of a webinar presented by Brian Chicoine, MD and Katie Frank, PhD, OTR/L on April 28, 2020. Dr. Chicoine is the co-founder and medical director of the Adult Down Syndrom

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Refusal to Eat Solid Foods

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

We received a question about a person with Down syndrome who was refusing to eat solids. He was found to have dental disease. He needed several fillings and had a couple baby teeth removed. The dentis

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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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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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Self-Reported Presence and Experience of Pain in Adults with Down Syndrome

Author: de Knegt et al. - Pain Medicine (2017)

Abstract Objective: The aim was to examine whether the presence of pain (based on physical conditions and participants’ report) and self-reported pain experience in adults with Down syndrome

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Down Syndrome and Autism

Author: National Down Syndrome Society - Website

The  Down Syndrome and Autism    page on the National Down Syndrome society's website has information and resources about the dual diagnosis of Down syndrome and aut

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Pain Perception in People with Down Syndrome: A Synthesis of Clinical and Experimental Research

Author: McGuire & Defrin - Frontiers in Behavioral Neuroscience (2015)

Abstract 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 pe

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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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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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