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

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Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder

Author: Santoro et al. - Translational Psychiatry (2023)

Abstract Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness

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Incidence and Clinical Outcomes of Pneumonia in Persons with Down Syndrome in the United States

Author: Janoff et al. - Vaccine (2023)

Abstract Background:  Persons with Down syndrome (DS) experience an increased risk of pneumonia. We determined the incidence and outcomes of pneumonia and relationship to underlying comorbidi

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Co-Occurring Conditions in Children with Down Syndrome and Autism: A Retrospective Study

Author: Spinazzi et al. - Journal of Neurodevelopmental Disorders (2023)

Abstract Background:  Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditi

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Keratoconus in People with Down Syndrome

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

We received a question about treatment of keratoconus in people with Down syndrome.  What is keratoconus? Keratoconus is an eye condition in which the cornea (the clear part in the front of t

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Regression & Down Syndrome

Author: National Down Syndrome Society - Website

The Regression & Down Syndrome page on the National Down Syndrome Society's website has information about Down syndrome regression disorder including symptoms, treatment, and resources

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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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Hypoglycemia (Low Blood Sugar)

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

What is hypoglycemia? Hypoglycemia is the medical term for low blood sugar or low glucose. Blood sugar or glucose levels can be measured with a blood test. Healthcare providers make the diagnosis of h

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Blood Counts in Children with Down Syndrome

Author: Harvey et al. - Pediatric Blood & Cancer (2022)

Abstract Background:  Children with Down syndrome (DS) are more likely to have hematologic and immunologic abnormalities compared to their typically developing peers, but normal ranges have n

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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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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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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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Vitamin B12 Deficiency

Author: Brian Chicoine, MD - Adult Down Syndrome Center

Vitamin B12 deficiency is an issue that we often check for in individuals who receive medical care at the Adult Down Syndrome Center. We usually get enough vitamin B12 from the foods we eat. Vitamin B

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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

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Testicular Cancer

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

While many solid tumor cancers are  less  common in people with Down syndrome compared to people without Down syndrome, testicular cancer is one type of solid tumor cancer that is&am

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Surgery to Correct Eye Crossing (Strabismus)

Author: Brian Chicoine, MD - "Ask Dr. Chicoine" LuMind IDSC Foundation

We were asked about recurrence of strabismus that had been corrected by surgery in childhood. Strabismus is crossing of the eyes. The eyes of an individual with strabismus are not lined up properly an

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Breast Cancer and Breast Cancer Screening for Women with Down Syndrome

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

Breast cancer screening recommendations have varied over time and continue to vary. Organizations have different recommendations for when women should start being screened for breast cancer and how of

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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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Dysgerminomas in Women with Down Syndrome

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

We received a request for information on dysgerminomas in women with Down syndrome. Dysgerminomas are germ cell tumors that typically occur in the ovary. Testicular cancer is the comparable cancer in

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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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Prostate Cancer Screening in Men with Down Syndrome

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

Should men with Down syndrome (DS) undergo prostate specific antigen (PSA) blood testing for prostate cancer screening? The United States Preventive Services Task Force  (USPSTF) recommends t

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Pneumonia and Respiratory Infections in Down Syndrome: A Scoping Review of the Literature

Author: Santoro et al. - American Journal of Medical Genetics Part A (2020)

Abstract Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature

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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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