Down’s Syndrome Regression Disorder

Jen Craft Excerpts

Tuesday 8th July 2025 Westminster Hall

[Jen Craft (Thurrock) (Lab)]

I beg to move,

That this House has considered Down’s syndrome regression disorder research.

I am honoured to serve under your chairship, Sir Jeremy.

Down’s syndrome regression in a mild form is not uncommon among people with Down’s syndrome. It represents the loss of previously acquired developmental skills, which can include a slight decline in the ability to speak, reduced interest in social activity, or increased dependency on caregivers. With the right care or behavioural support, people experiencing mild regression often make a complete recovery, and yet in a small proportion of people with Down’s syndrome, there is a much more dramatic and devastating loss of skills.

The regression such people experience is profound and the onset stark. Typically, it occurs in young adults, who almost overnight can retreat into themselves and become uncommunicative, catatonic and uninterested. As more medical professionals have encountered that aspect of Down’s syndrome in the past 20 years, it has become known as Down’s syndrome regression disorder.

[Josh Dean (Hertford and Stortford) (Lab)]

I am grateful to my hon. Friend for securing this important debate. My constituent Ruth’s son has DSRD, which has impacted his mobility, and means that he is prone to outbursts and is struggling to access education. It took a long time for Jude to be diagnosed. In the UK, I understand, no diagnostic or treatment plan is in place. Does my hon. Friend agree that research into the area is critical and that, were a neurotypical person to present with such regression, it would be treated as the medical emergency that it is?

[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.

[Several hon. Members rose—]

--- Later in debate ---

[Jen Craft]

I thank all colleagues who have taken part in today’s debate. I hope it has been a chance to raise awareness of this much overlooked and under-researched condition. I thank colleagues who shared stories of their individual constituents. My hon. Friend the Member for Portsmouth North (Amanda Martin) shared the story of Ewan, and my hon. Friend the Member for Hertford and Stortford (Josh Dean) shared Jude and Ruth’s moving story.

I also appreciate the contribution of the hon. Member for Strangford (Jim Shannon), who talked about the wider implications for families of caring for someone with Down’s syndrome, as well as the contribution from the hon. Member for Birmingham Perry Barr (Ayoub Khan), who raised the need for more awareness of Down’s syndrome regression disorder.

I thank the Liberal Democrat spokesperson, the hon. Member for Chichester (Jess Brown-Fuller), for her kind words and for talking about the need for co-ordinated care and lifelong support for those with Down’s syndrome. I am also grateful to the right hon. Member for East Hampshire (Damian Hinds) for his contribution. He spoke about the need for more research, and for better support and care for the families of people with Down’s syndrome.

My thanks also go to my hon. Friend the Member for Mid Cheshire (Andrew Cooper) for sharing a passionate plea to listen to parents and families, as we are the real experts. That is something I would like the Minister to embed in the guidance under the Down Syndrome Act—listening to those who are experts in the condition. Fairly often, when a person does not receive timely treatment for things like Down’s syndrome regression disorder, it is because those who know them best are not listened to. They are seen the way they have presented on the day, without their entire history being taken into account.

I also thank the shadow Health Secretary, the right hon. Member for Melton and Syston (Edward Argar), for saying that this is very much a cross-party issue. I hope we can move forward in that spirit and see it as something that is beyond the political sphere. We need to act on it so we can come to a resolution for those who are affected by this horrifying condition.

Finally, I thank the Minister for his comments, and particularly on his commitment to publishing the Down Syndrome Act guidance in the autumn, which I am sure will be welcomed by many. I hope there will be specific measures to raise awareness of Down’s syndrome regression disorder, and a pathway so that parents, carers and those with Down’s syndrome regression disorder can get support. Signposting can often be helpful in showing them where to go.

One thing that comes up time and again, when speaking to parents of children or young people with Down’s syndrome regression disorder, is that they are often unaware of it until it happens. It is helpful to understand that what is happening to their child is not unique, and that it is a recognised condition for which treatment is available. That is one of the more helpful things that the Government can do.

Again, I thank everyone for taking part in this debate, and I hope this is the start of real progress on the issue.

[Sir Jeremy Wright (in the Chair)]

I add my thanks to all who participated.

Question put and agreed to.

Resolved,

That this House has considered Down’s syndrome regression disorder research.