Down’s Syndrome Regression Disorder

Ayoub Khan Excerpts

Tuesday 8th July 2025 Westminster Hall

[Jen Craft]

Without wishing to get ahead of myself in my speech, I very much agree with my hon. Friend. I also add my thanks to Ruth for sharing her and Jude’s story. It had a significant impact on me when I heard it.

As I was saying, the condition is truly horrific, and it has been largely under-researched and overlooked. Existing studies of Down’s syndrome regression disorder are few and far between. A study in 2021, “A systematic review” by Walpert, Zaman and Holland, examined the existing body of work. It identified that cases of extreme regression have often been wrongly dismissed as a late diagnosis of autism or early-onset dementia, but the nature of those conditions and the age at which they present are categorically distinct from regression disorder. Symptoms of autism present in early childhood, while dementia typically causes a gradual loss of skills from the age of 40 upwards. Neither of those condition profiles matches the dramatic loss of developmental skills in young adulthood caused by Down’s syndrome regression disorder.

While no single cause has been identified, a clear trend is that significant life events can closely precede the onset of regression disorder. The 2021 review found that the most common example was a change in environment, such as leaving school, moving home or being separated from parents. Other life events, such as a death or serious illness, were also identified in the data. The lack of research presents challenges in diagnosis. There is no consistency in the naming and definition of regression, hindering the clinical recognition and study that is a necessary precursor to evaluating treatment. As a result, no condition-specific care is available in the NHS.

Without proper understanding and in the absence of treatment, the human impacts of the condition are terrifying. Families helplessly watch their child become almost unrecognisable in the space of months, weeks or even days. Young people who have previously held down jobs or voluntary positions, and who led rich lives with interests, hobbies and friends, lose everything.

I will mention the story of Fran, who had just started secondary school when she was involved in an incident when one of her peers hurt and threatened her. As her mum Cristina described, the altercation caused Fran to shut down. Over a few days, she refused to engage in anything. Cristina was alarmed and took her daughter to the GP, who found high thyroid levels. Fran was prescribed thyroxine, but that only made her condition worse. She soon stopped talking altogether, and she only signed. Having been attending a mainstream school, she lost her independence. She wanted to be held the whole time, would not make eye contact, and was vacant behind the eyes. Cristina said she looked lost and sad.

After many more blood tests the thyroxine was stopped, and a referral to Great Ormond Street hospital was made for specialist help. As time went on, Fran slowly began to talk, read and write again, but nowhere near her previous standard. Great Ormond Street has carried out further tests, and the doctors believe that she has suffered trauma, which has caused her regression. Cristina says she just wants the old Fran back.

For Olivia’s story, she was 16 when she began to display symptoms of regression. As her parents Dimitri and Viviana have set out, Down’s syndrome regression disorder transformed their once vibrant, semi-independent daughter into someone they barely recognised. Prior to the onset of symptoms, she was engaged in school, participating in swimming lessons and actively engaging in family life. Now, her parents say it is as if she exists in a parallel world, spending most of her time isolated in bed and disconnected from life. She becomes distressed doing basic daily tasks, with screaming and physical resistance. They said their happy, loving daughter who once thrived has disappeared.

Through research online, Dimitri and Viviana identified Olivia’s condition as potential regression, and found themselves in the unprecedented position of having to educate healthcare professionals about the condition. Since, the paediatrician and neurologists have agreed with that diagnosis. As the mother to a daughter with Down’s syndrome, I cannot begin to imagine the torture of seeing your child’s personality slip away before your eyes, to then be met with only confusion and uncertainty when seeking professional support.

Parents of children with regression disorder often describe being bounced around the system between NHS services and staff, as few practitioners have the expertise to diagnose properly. When they finally manage to speak to the right clinician, some are even told to take their child to A&E. I do not say that to criticise healthcare professionals, but rather to highlight that they need to be given the right tools for the job—the right guidance and training—and to suggest that doctors should be able to say, “I do not know what this is,” when faced with a seemingly unique condition, instead of attempting to rule out every practical possibility.

The challenges faced by parents of children with regression disorder speak to a wider point: people with learning disabilities can be treated differently by our healthcare system, with their needs all too readily overlooked and their symptoms far too often attributed to their disability by clinicians who simply do not know them. As we all know, if a neurotypical child stopped eating and speaking overnight, or if they became incontinent, catatonic and lost all their personality, they would be in an ambulance straight to the hospital and it would be treated as a medical emergency.

I am glad that the Minister is here today to hear these testimonies, and some that my other colleagues will be sharing, because it is important that we understand the terrible effects of this condition. I do not think it is an exaggeration to say that Down’s syndrome regression disorder is destroying lives.

[Ayoub Khan (Birmingham Perry Barr) (Ind)]

I thank the hon. Member for securing this debate. In Birmingham, we certainly have hundreds—I do not have an exact figure. Does she think that those who are suffering from Down’s syndrome should have a letter written to their GP outlining that there is this other condition—one of regression? This is so that, when and if the worst occurs, at least the general practitioner’s notes, which are now shared across the NHS, would reflect that potential scenario.

[Jen Craft]

I will just say with kindness that people do not suffer from Down’s syndrome—I know it was a turn of phrase—but we tend to say they have it. It is a condition; it is a disability and is part of the make-up of what makes a person a person. I think it is fair to say that people do suffer if they have Down’s syndrome regression disorder, and their families do as well.

The hon. Member touches on a wider point—the real need for education of healthcare professionals and those who come in contact with people with Down’s syndrome to be aware that this regression can occur, in order to spot the early signs, because the earlier they intervene, the better the outcomes. They need to understand that it might not be attributable to late autism or early dementia, but is something in and of itself, and we need to look at how we spread that knowledge more widely.

As I have said, Down’s syndrome regression disorder is destroying the lives of those it impacts, but there is hope for those affected. Trials of treatment in the USA have produced positive results: the use of intravenous immunotherapy was shown to help approximately 20% of individuals who are experiencing regression.

I will not wade into the complex debate about the merits or otherwise of specific types of medication or treatment, but what I am calling for, and asking of the Minister, is a commitment to action. We must work towards the creation of a clear assessment pathway, with uniform diagnostic criteria, to improve the identification and awareness of regression. Health and educational practitioners working in the space of special educational needs and disabilities need guidance to fill the current void in knowledge. Anyone who might come in contact with a young person with Down’s syndrome needs to be aware that regression can occur, whether in mild or more severe forms.

We desperately need to research regression further to understand its causes, investigate the mental health dimension of the condition, interrogate the efficacy of potential treatments and roll out treatments where they are determined to be effective. I look forward to hearing the Minister’s thoughts on how we might work together to achieve that, and I would welcome a determined commitment to meeting those who are already deeply involved in the research, treatment and experience of Down’s syndrome regression disorder.

I thank those who brought the condition to my attention, the Down’s Syndrome Association for its ongoing work in this space, and the Down Syndrome Medical Interest Group. I also thank the clinicians, including Dr Ella Rachamim for her work in this area, and my friends at Upwards with Downs. To the families who have shared such personal accounts of this horrifying condition, I hope that today is a start of a long-overdue and much-needed process of getting recognition of the condition and the treatment pathway that families and people with Down’s syndrome deserve.

--- Later in debate ---

[The Minister for Care (Stephen Kinnock)]

It is a pleasure to serve under your chairship, Sir Jeremy. I thank and pay tribute to my hon. Friend the Member for Thurrock (Jen Craft) for securing this important debate. I commend her for the work she is doing to raise such an important issue, and for sharing her personal experiences in a moving and powerful way, as a parent of a child with Down’s syndrome. I also pay tribute to all the hon. Members who have spoken so powerfully and movingly in this debate.

Last week, we launched our 10-year health plan for the NHS, which creates a new model of care, fit for the future. The neighbourhood health service will help to improve life outcomes for disabled people, including people with Down’s syndrome, by providing access to holistic, ongoing support that is closer to home. Through local commissioning, we will ensure that neighbourhood health services work in partnership with family hubs, schools, nurseries and colleges to offer timely support to children, young people and their families, including those with special educational needs and disabilities.

We have heard powerful testimonies about the challenges associated with Down’s syndrome regression disorder, both for people with Down’s syndrome and for their families and carers. As we have heard, regression describes the loss of previously acquired cognitive and developmental skills in an individual. Down’s syndrome regression disorder is a specific, rare type of regression, which usually presents in adolescence or early adulthood.

People with Down’s syndrome can live full lives pursuing their personal interests, taking up employment, and living independently. However, regression can have a devastating impact for people with Down’s syndrome; the loss of developmental skills can affect daily living, language, motor abilities or social interaction. We know that symptoms can often be overlooked, or misdiagnosed as dementia. We have heard that further awareness and understanding of the disorder is needed. Like with other support for people with Down’s syndrome, it is important that care for regression disorder is personalised and takes into account the specific needs of the individual.

As my hon. Friend the Member for Thurrock so clearly explained, there is currently limited understanding of Down’s syndrome regression disorder. We know that experts in the field have looked into regression and developed a position statement on regression in adolescence and early adulthood experienced by people who have Down’s syndrome. This includes recommended healthcare actions for people with Down’s syndrome who show signs of loss of skills or cognitive decline.

There has been some academic research into regression, but there is still much to learn about this disorder and why it happens to some people. We understand that many factors may come into play in causing regression, but the specific underlying cause of Down’s syndrome regression disorder is still unclear. Through its research delivery arm, the National Institute for Health and Care Research, the Department of Health and Social Care welcomes high-quality funding applications from researchers seeking to better understand this condition, and to inform enhanced management and care.

More broadly, patients will receive the most cutting-edge treatment years earlier than planned under the Government’s 10-year health plan, which will speed up clinical trials so that the UK becomes a hotbed of innovation. Millions of people will now be able to search for and sign up to life-changing clinical trials via the NIHR Be Part of Research service on the NHS app, allowing patients to browse and find the trials best suited to their interests and needs.

The Government are committed to improving life outcomes for people with Down’s syndrome, including those who have regression disorder. In order to achieve this, it is vital that we raise awareness of the needs of people with Down’s syndrome. We know that despite many positive developments, such as increased life expectancy, people with Down’s syndrome do not always receive the care and support they need to lead the lives they want to lead in their communities.

[Ayoub Khan]

First, I apologise to the hon. Member for Thurrock for using clumsy language—I meant no discourtesy. We have been discussing PIP and how it could impact many people who require care. Regression can happen very suddenly for people with Down’s syndrome, which is concerning because we are still looking at research and the methods for getting a final determination. Will the Government incorporate something, such as financial care packages and so forth, to deal with the additional care required by those individuals?

[Stephen Kinnock]

As the Government have made clear throughout the debate on reforming the welfare system, those who need to be supported and protected will be supported and protected, so I can reassure the hon. Gentleman on that point. There is clearly a lot of work to do through the review that will be led by the Minister for Social Security and Disability, my right hon. Friend the Member for East Ham (Sir Stephen Timms). This will be an important part of his work.

Through the implementation of the Down Syndrome Act 2022, we will improve awareness and understanding of the needs of people with Down’s syndrome and how to meet them. The Act requires the Secretary of State for Health and Social Care to give guidance to relevant authorities, including local authorities, education and housing services, on the appropriate steps they should be taking to meet the needs of people with Down’s syndrome in exercising their relevant functions.

Work to develop the statutory guidance under the Act is being taken forward as a priority, with a view to issuing it for consultation in the autumn. The shadow Minister, the right hon. Member for Melton and Syston (Edward Argar), asked about that. We looked at publishing it over the summer, but we received feedback from stakeholder groups that parents in particular are often busy with their kids over the summer, so it is better to wait until the autumn. That is what we are doing, and we will be publishing it as soon as the school holidays are over.

Officials have considered a range of evidence and engaged extensively with sector partners to inform the development of the guidance. This includes a national call for evidence, which received more than 1,500 responses. A summary report of its findings will be published ahead of, or alongside, issuing the draft guidance for consultation. Based on what we were told during the call for evidence and our subsequent engagement with sector partners and experts, a needs profile has been developed setting out the different needs of people with Down’s syndrome, including people with Down’s syndrome regression disorder. We intend to publish the needs profile paper alongside the draft guidance this autumn to ensure full transparency.

The guidance itself will raise awareness of the specific needs of people with Down’s syndrome, including health needs such as unexplained regression. The guidance will also set out practical steps that relevant authorities should take to meet the needs of people with Down’s syndrome.

We have made significant progress in developing the guidance. We are working closely with relevant Government Departments and sector partners to ensure that it is helpful, accurate and fully reflective of the latest developments in Government policy. Crucially, that engagement has involved people with lived experience of Down’s syndrome, as well as organisations that support people with Down’s syndrome, other conditions and/or a learning disability.

On 4 June, I met the all-party parliamentary group on Down syndrome and provided an update on the latest progress on the guidance. We discussed how we can ensure that the guidance is as effective and impactful as possible. The latest version of the draft guidance, which has had input from all relevant Government Departments, was also shared with sector partners in June for their feedback.

Officials are reviewing that feedback ahead of issuing the guidance for consultation this autumn, which will provide a further opportunity for individuals and organisations to share their views. We remain committed to delivering high-quality guidance that supports improved outcomes for people with Down’s syndrome, while bringing wider benefit where possible. To support implementation of the guidance, NHS England published statutory guidance on 9 May 2023 requiring that every integrated care board must have a named leader for Down’s syndrome.

The 10-year health plan will ensure a better health service for everyone, regardless of condition or service area. We want disabled people’s access to and experience of healthcare services to be equitable, effective and responsive to their needs. Significant engagement took place as part of the 10-year health plan’s development, and informed the final plan. That engagement included a roundtable on learning disability, at which we heard directly from people with Down’s syndrome about their experience of the NHS. We also received contributions from organisations that support and advocate for Down’s syndrome across the health and social care sector.

The 10-year health plan sets the vision for what good, joined-up care looks like for people with a combination of health and care needs, including people with Down’s syndrome regression disorder or other disabilities. The neighbourhood health service will support disabled people to be more active in the delivery and management of their own care. That includes increasing uptake of personal health budgets, which provide individuals with greater choice and flexibility on how their assessed wellbeing needs are met. We know that there are many disabled people, including people with Down’s syndrome, who want to work. The 10-year plan will break down barriers to opportunity by delivering the holistic support that people need to access and thrive in employment.

A number of hon. Members raised questions about training. The guidance will raise awareness of the specific needs of people with Down’s syndrome, including people with regression disorder. We understand that training is an important part of that picture. Under the Health and Social Care Act 2008 and the Health and Social Care Act 2008 (Regulated Activities) Regulations 2014, providers registered with the Care Quality Commission must ensure that staff receive appropriate professional development necessary for them to carry out their duties. Specific training on learning disability and autism, appropriate to the staff member’s role, is also mandated under the Health and Care Act 2022. We expect that providers should consider whether specific training on Down’s syndrome is required for their staff.

Members also raised questions about funding research into regression disorder. The Department funds health and social care research through the NIHR. The NIHR welcomes funding applications for research into any aspect of human health and care, including Down’s syndrome regression disorder. Such applications are subject to peer review and are judged in open competition, with awards made on the basis of the importance of the topic to patients and to health and care services, value for money, and scientific quality. That enables maximum flexibility, both in the amount of research funding that can be awarded to a particular area, and in the type of research that can be funded.

The NIHR works closely with other Government funders—including UK Research and Innovation, which is funded by the Department for Science, Innovation and Technology and includes the Medical Research Council—to fund research to improve care and prevent poor health outcomes for people with Down’s syndrome.

The shadow Minister asked a couple of specific questions. I think he mentioned Down’s Syndrome Association-supported research by Cambridge University, and the trials in the United States of America. If it is okay, I will write to him on those points. I am not in a position to address them today.

I hope I have addressed the points raised by hon. Members in this debate. I end by thanking all those who have committed so much time and effort to supporting the development of the guidance under the Down Syndrome Act. We are grateful for the invaluable input that individuals and organisations continue to provide on the draft guidance. Their feedback has been, and is, instrumental in helping us to ensure that the final guidance has maximum benefit. Officials will continue to work with sector partners to ensure that the communities they represent are aware of the forthcoming consultation and can share their views.

I once again thank my hon. Friend the Member for Thurrock for securing this important debate, and for all the incredibly important work that she is doing in this area. I also thank all hon. Members for their contributions.