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

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Regression in Persons with Down Syndrome

Author: Down Syndrome Medical Interest Group - USA - Current Consensus Update for Families

Regression in Persons with Down Syndrome: Current Consensus Update for Families   In January 2023, the Down Syndrome Medical Interest Group - USA (DSMIG-USA) shared a consensus update for fam

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Decline in Skills and Regression in Adolescents and Adults with Down Syndrome Webinar Recording (8/31/2022)

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

The video below is a recording of a webinar presented by Brian Chicoine, MD of the Adult Down Syndrome Center. Individuals with Down syndrome may experience decline in skills for many reasons

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Constipation in Down Syndrome

Author: Samantha Ghanayem-Bouikidis, MD and Brian Chicoine, MD - Family Medicine, Advocate Lutheran General Hospital

Constipation is a common problem in people with Down syndrome as well as the general population. Studies show that chronic constipation affects between 2 and 27% of the general population. It is thoug

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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

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Electroconvulsive Therapy, Catatonia, and Regression in People with Down Syndrome

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

Electroconvulsive therapy (ECT) is a treatment that involves sedating an individual with anesthesia and then inducing a seizure with a short electrical stimulation of the brain (more information can b

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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

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Irritable Bowel Syndrome

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

Irritable bowel syndrome (IBS) is a health issue in the intestines (bowels). It is not clear how common it is in people with Down syndrome (DS).  However, we suspect that IBS is more common i

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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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Swallowing Problems (Dysphagia)

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

Swallowing problems (dysphagia) are common in people with Down syndrome (DS). In our large cohort study that reviewed health data from people cared for within Advocate Health, swallowing problems were

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Possible Causes of Regression in People with Down Syndrome during the COVID-19 Pandemic

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

We received a question about a man with Down syndrome in his late 30s. His family shared that he developed catatonia, was hearing people speaking in his head, and lost a significant amount of weight.

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Regression in Down Syndrome Support Group

Author: Eileen Quinn, MD - Moderator

The link below takes you to a closed Facebook page for families, caregivers, and professionals who support individuals with Down syndrome who have experienced or are experiencing regression. If you cl

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Use of Probiotics by People with Down Syndrome

Author: Adult Down Syndrome Center - Resource

What are probiotics? Probiotics are foods or supplements that contain live microorganisms (e.g., bacteria). Foods with labels that say "live and active cultures" contain probiotics.

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

Author: Down Syndrome-Autism Connection - Website

  Learn about co-occurring Down syndrome and Autism Spectrum Disorder (DS-ASD) on the page linked here . The information is provided by the Down Syndrome-Autism Connection, an organization wh

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Liver Fibrosis

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

Fibrosis of the liver can be thought of as a "scar" in the liver that results from chronic liver injury. It is similar to scarring that may form on the skin or in the lung or other o

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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

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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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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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Treating Gastroesophageal Reflux Disease with Surgery

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

We were asked about surgical options for treating gastroesophageal reflux disease (GERD). GERD occurs when stomach contents, including acid, go "backwards" from the stomach up into t

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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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Colon Cancer Screening for People with Down Syndrome

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

Is colon cancer screening recommended for people with Down syndrome? Please note that this handout discusses screening colonoscopies (i.e. colonoscopies performed to identify pre-symptomatic or unreco

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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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Lactose Intolerance

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

People with Down syndrome can experience a variety of gastrointestinal issues. One of them is intolerance to foods containing lactose. Lactose is a sugar found in dairy products like milk and ice crea

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Celiac Disease

Author: Robert Campbell, DO - Family Medicine Resident, Advocate Lutheran General Hospital

What is celiac disease? Celiac disease is characterized by inflammation of the lining of the small intestine that occurs when the intestine is exposed to gluten (see more on gluten below). Specificall

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Gastroesophageal Reflux Disease

Author: Allison Schnitzler, MD - Family Medicine Resident, Advocate Lutheran General Hospital

Gastroesophageal Reflux Disease (GERD), also known as acid reflux and heartburn, is common among people both with and without Down syndrome. One study showed that as many as 44% (almost one half!) of

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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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