Information & Resources
Regression
Overview
People with Down syndrome may present with regression , which can involve loss of skills or abilities or with a change in behaviour or mood. There are a number of possible contributors to such a presentation, which may include physical or psychiatric illness , or emotional and environmental issues Some of these factors may be more likely to occur in Down syndrome. Any person presenting with regression should be reviewed by a doctor for a thorough evaluation in order to look for physical causes such as illness, infection or pain. Depending on the findings of the clinical evaluation, certain investigations may be carried out. Scans such as MRI, CT or ultrasound may be used, depending on clinical findings, to look for physical causes of the symptoms, but in many cases are not helpful. Conditions such as dental pain, constipation and acid reflux should be specifically considered. Hearing and vision should be tested, if this hasn’t been done recently.
Blood tests may be carried out, such as a full blood count, thyroid function, coeliac screen, diabetes screen, liver function, kidney function, electrolytes, vitamin D, iron, folate and vitamin B12. A urine sample should be checked for infection.These investigations may reveal a cause for the symptoms, and lead to appropriate treatment.
A sleep study to look for disordered sleep or sleep apnoea should be considered in case associated tiredness might be causing or exacerbating the symptoms.
Anxiety and depression are very common in people with Down syndrome and these should certainly be considered in anyone with a change in character or behaviour. Anti-depressant medication may be used, although the type and dose may sometimes need to be adjusted until the right one is found.
It is important to consider whether any stressors in daily life can be adjusted to help the person – and whether there are activities, situations, things or people who may be unsettling or upsetting the person in some way.
There is also a specific type of regression, called DSRD (Down syndrome regression disorder) where the underlying cause is not clear. DSRD usually occurs in adolescence and early adulthood and can appear within weeks or a few months. This type of regression is rare, and it is estimated that there is a 1-3% lifetime risk for all individuals with Down syndrome. Note that dementia can present as regression, but it is highly unlikely to be the cause in a person aged 30 years or younger.
Treatment at present, in the UK, for DSRD is primarily symptomatic, with a focus on managing neuropsychiatric symptoms. Various other therapeutic interventions have or are being explored. Medications which have shown promise in studies include SSRI anti-depressants, anti-psychotic medications, anti-cholinergic medications (used also in Alzheimer’s disease) and immunoglobulin therapy.
Multidisciplinary care involving various medical specialties and the intellectual disability psychiatry team is important in management of this condition.
Updated July 2025 by Liz Marder with contribution from Ella Rachamim and Elizabeth Herrieven
DSMIG Guidance
Joint Statement by DSMIG and Down’ Syndrome Association on Regression in Adolescence and Early Adulthood experienced by people who have Down’s syndrome.
Presentations at DSMIG Meetings
Dr Shahid Zaman, Consultant Psychiatrist and Neuroscientist, University of Cambridge DSMIG symposium London 2023
Neurological Approach To Regression And Poor Developmental Progression In Down Syndrome
Dr Richard Newton , DSMIG Symposium , London 2019
Consultant Paediatric Neurologist, Manchester
Catatonic regression in adolescents with Down syndrome: case presentations and discussion
Dr Deirdre Cahalane, Consultant Child and Adolescent Psychiatrist, St Michael’s House, Dublin .DSMIG symposium London 2011
Additional Resources
Regression in Down’s syndrome Down’s Syndrome Association
A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome. Madeleine Walpert, Shahid Zaman, Anthony Holland, Brain Sci . 2021 Sep 10;11(9):1197.
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M, Vogel BN, Tanna R, Pagarkar D, Dhanani S, Ortega MDC, Partridge R, Stanley MA, Sanders JS, Christy A, Sannar EM, Brown R, McCormick AA, Van Mater H, Franklin C, Worley G, Quinn EA, Capone GT, Chicoine B, Skotko BG, Rafii MS. Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175 PMID: 35911905; PMCID: PMC9335003.
Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder Jonathan D Santoro et al , Journal of Neurodevelopmental Disorders volume 14, Article number: 35 (2022)