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Down Syndrome

Regression (DSDD/URDS)

Often parents and other caregivers seek consultation from diagnosticians related to early onset dementia when an adult in his or her teens or 20s begins to show significant decline in function and behavior (such as mood changes), and cognition. The behavioral changes often manifest in changes in motor skills, unusual movements, changes in speech capabilities, and problems with oral intake.

As these symptoms often mimic those seen in adults with Down syndrome in their 50s or 60s, they are often misdiagnosed as related to Alzheimer's disease. 

 

Clinicians are now noting that this phenomenon in young adults with Down syndrome is not a form of early-onset Alzheimer's disease, but a heretofore previously undefined brain neuropathology. Generally, this condition has been termed a form of 'regression', but is now known clinically as 'Down syndrome disintegrative disorder' or DSDD -- among other terms. Core features include regression in adaptive function (such as changes in functional activities of daily living [ADLs], speech, and social skills), cognitive–executive function (such as functional skills, declarative memory, procedural memory, learning memory, planning/organizing, and attention), and motor control (such as stereotyped movements, extrapyramidal, initiation–motivation, and catatonia).

A working group of the US Down Syndrome Medical Interest Group (DSMIG-USA) charged with examining the science and clinical aspects of this condition published an article in Genetics in Medicine. In its 2019 paper, they refer to this condition via a clinically descriptive term -- “Unexplained Regression in Down Syndrome” (URDS). Other groups have also explored this condition and some of their reports are noted below under Down Syndrome "Regression" Resources.

Regression in Persons with Down Syndrome: Current Consensus Update for Families

Down Syndrome Medical Interest Group-USA has issued an updated summary of what is known about this phenomenon and which provides highly useful information on 'what is regression?", 'what are some some of the symptoms associated with Down syndrome regression?", "How to get evaluated", "What are other causes of regression", "what test are available?", and is there a treatment?".  To read this update, click here.

Down Syndrome "Regression" Resources

These article are not an exhaustive listing of publications related to this topic.

Acute regression in Down syndrome
Acute regression in Down syndrome

Journal article

Regression in Persons with Down Syndrome: Current Consensus Update for Families
Regression in Persons with Down Syndrome: Current Consensus Update for Families

Resource document

Regression (Down Syndrome)
Regression (Down Syndrome)

Book chapter

Down syndrome disintegrative disorder: A clinical regression syndrome of increasing importance
Down syndrome disintegrative disorder: A clinical regression syndrome of increasing importance

Journal article

Regression and loss of skills in adolescents and adults with Down syndrome
Regression and loss of skills in adolescents and adults with Down syndrome

Resource video

New definition of unexplained regression in Down syndrome proposed
New definition of unexplained regression in Down syndrome proposed

Journal article

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Journal article

Regression in adolescents and adults with Down syndrome
Regression in adolescents and adults with Down syndrome


Book chapter

Acute regression in young people with Down syndrome
Acute regression in young people with Down syndrome

Journal article

Catatonia in Down Syndrome: A Treatable Cause of Regression
Catatonia in Down Syndrome: A Treatable Cause of Regression

Journal article

Down syndrome disintegrative disorder: New-onset autistic regression, dementia, and insomnia in older children and adolescents with Down syndrome
Down syndrome disintegrative disorder: New-onset autistic regression, dementia, and insomnia in older children and adolescents with Down syndrome

Journal article

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