What is Down syndrome regression disorder?
Down syndrome regression disorder (or DSRD) is a rare condition that can affect people with Down syndrome. It is characterised by the sudden loss of skills that a person used to have. These changes usually happen quickly over a few weeks and can show as decline in communication, social interaction or? self-care abilities. It may also include symptoms of mood, behaviour and cognitive function. It typically affects people between the ages of 10 and 30 and can be misdiagnosed as late onset autism or early onset dementia. In this age group, that is unlikely to be the case.
Signs of DSRD
Signs of DSRD can include:
- loss of speech
- needing more help with eating, drinking and sleep
- social withdrawal, reduced eye contact and agitation
- mood changes, irritability, depression
- difficulty with movement, such as slowness, repetitive movements or difficulty initiating movements
- psychiatric symptoms such as hallucination or disordered thoughts.
Getting help
Getting help early is important. If you notice sudden changes and loss of skills, it is important to consult with a health care professional.
Our friends at Down Syndrome Australia and Down Syndrome Western Australia developed a DSRD checklist to help families to document changes. It can be helpful to bring your list to medical appointments.
Diagnosis involves an evaluation to rule out other potential medical and environmental causes. Evaluation may include:
- medical history
- physical examinations
- imaging.
The goal is to identify or rule out conditions that might seem like DSRD symptoms, such as thyroid, coeliac or sleep apnea.
Treatment strategies for DSRD are tailored to individuals’ specific needs and underlying causes. Approaches may include medical treatment, therapies and support aimed at restoring lost skills and improving quality of life.
If after consulting your paediatrician or treating doctor it is deemed that investigations to DSRD are indicated:
- if your child is under the age of 18, a referral to the T21 Assessment clinic at RCH is now available to Victorian families to provide further assessment and referral to other relevant clinics treating this condition
- if you are supporting someone over the age of 18, you can self-refer to the Centre for Developmental Disability Health.
Down Syndrome Victoria will continue to work closely with all our hospitals to ensure a better pathway to treatment exists and individuals gain access to the treatment and care they need.
If you need further information or support, please email us at info@dsav.asn.au.