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.
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?
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 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.
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.
It is a real pleasure to serve under your chairship, Sir Jeremy. I thank the hon. Member for Thurrock (Jen Craft) for raising the issue, and for how she participates in all debates—with obvious knowledge, compassion and understanding. We thank her for that. Having this debate enables us to contribute.
I am going to give an example of a constituent in Newtownards who went through Down’s syndrome regression and describe the impact that that is having on mum, dad and child. The condition is not always understood—it is only understood by those it directly affects. Down’s syndrome regression disorder is a condition in which individuals with Down’s syndrome experience a sudden loss of previously acquired skills and abilities. I am going to explain that in relation to the couple in Newtownards and their child—she is a young lady now, to be fair. The condition may involve a change in eating patterns, such as not wanting to eat, and extreme slowness and low energy, which may or may not be associated with weight loss. These are things that their child never had before, but all of a sudden they do. There can be enhanced insomnia, obsessive-compulsive behaviours, a loss of independence in activities or a need for significant assistance with activities. Problematically, the person may also be aggressive, not because they are aggressive, but because their frustration sometimes leads to that. They may display anger or frustration, with or without behavioural outbursts. Those are all things that happened.
When I think about this condition, I think of a family I helped last year with their daughter’s disability living allowance renewal. They are in their late 70s and care for their daughter, who has Down’s syndrome. She walks the floors, night and day, in pain. She is in her 50s, and her joints are reacting to the continued walking. Because she is in pain, she has begun to lash out, not because that is her nature—that was never her nature. Her mum and dad have lovingly cared for her for more than 50 years, but their age and the regression mean that they cannot do so in the way that they did. They find it more difficult.
It is a pleasure to serve under your chairmanship, Sir Jeremy. I declare an interest as co-chair of the all-party parliamentary group on Down syndrome, along with the right hon. Member for East Hampshire (Damian Hinds).
I congratulate my hon. Friend the Member for Thurrock (Jen Craft) on securing this important and timely debate on Down syndrome regression disorder—a subject on which she always speaks with authority. I thank her for so eloquently explaining the devastating impact it has on families, the difficulties around its diagnosis, and the need for greater awareness and action.
We have already heard that Down syndrome regression disorder is a heartbreaking condition that affects around 1% to 2% of young people with Down syndrome, typically during adolescence and early adulthood. Despite the profound effects it has on many families across the country, it remains largely in the shadows and is widely under-recognised in our healthcare and support systems.
Down syndrome regression disorder is marked by a sudden and often severe loss of previously acquired skills—language, mobility, self-care and social interaction. Imagine a young person who once spoke fluently, dressed themselves and engaged joyfully with others suddenly becoming mute, withdrawn and dependent. For many families, this is not a nightmare: it is their reality. For them, it is like watching their loved one vanish before their eyes.
The emotional and psychological toll on these families is immense. A recent study published in the Orphanet Journal of Rare Diseases found that the caregivers of individuals with DSRD experience significantly higher levels of depression, financial strain and social isolation compared with the caregivers of individuals with other neurological conditions. Many parents described the experience as traumatic, grieving the loss of the child they once knew while navigating a healthcare system that often lacks answers. That is because in the UK awareness of DSRD is limited.
I rise to speak briefly in support of the case put so comprehensively and powerfully by the hon. Member for Thurrock (Jen Craft).
The APPG on Down syndrome, of which the hon. Member for Mid Cheshire (Andrew Cooper) and I are both members, was given a very striking presentation on Down syndrome regression disorder by Dr Ella Rachamim. We were told of the case of a young person with Down syndrome who went from being socially and physically active, able to get dressed, have a shower and enjoy swimming and playing basketball, to becoming stiff and catatonic, losing the ability to balance and walk upstairs, soiling and wetting himself frequently, and refusing food and drink to the extent that he became so dehydrated as to need hospitalisation.
As colleagues have said, Down syndrome regression disorder is a sudden loss of previously acquired and present social, motor and language skills. It is clearly a devastating development for any family, and it is often compounded by a lack of awareness and misdiagnosis. As the hon. Member for Thurrock said, it is taken for autism or early-onset dementia. We are all very grateful to the hon. Lady for securing this important debate, and to the Backbench Business Committee for granting it. I know that she intended to raise awareness of Down syndrome regression disorder in this debate, and she has certainly done so.
Clearly, more research is needed. Dr Rachamim shared with us various treatments, advocated for work-up and treatment plans to be put in place, along with trials and treatment options, and argued that to help this community, increasing professional awareness is key—key to preventing misdiagnosis and to ensuring that patients receive the right care and support. By increasing awareness of Down syndrome regression disorder, more support can be put in place both for the individuals affected and for the parents and carers who are so heavily impacted. This debate is part of that work. Again, I am grateful to the hon. Member for Thurrock, and I hope the Minister will take note.
It is a pleasure to serve under your chairmanship, Sir Jeremy. I thank my hon. Friend the Member for Thurrock (Jen Craft) for securing the debate, and for her opening words on Down’s syndrome regression disorder.
As we have heard, Down’s syndrome regression disorder is a little known but deeply distressing condition that affects between 1% and 2% of young people with Down’s syndrome, typically between the ages of 10 and 30. It is sudden and life altering. Young people who have developed essential social, motor and communication skills can rapidly lose those abilities, sometimes in a matter of weeks or even days.
One of the greatest challenges facing families is the lack of awareness. It is often misdiagnosed as early-onset Alzheimer’s, late-onset autism or schizophrenia. Without accurate diagnosis, access to the right treatment is often delayed, leaving families to navigate a terrifying and bewildering situation on their own.
I would like to share the story of one of my constituents, whose son Ewan experienced not just one but two severe episodes of this regression. Each time, his descent was sudden. He became consumed by paranoia, withdrew from his life, took to his bed and suffered significant mental health distress. His personality changed dramatically: once a happy, sociable young man, he became fearful and was convinced that Government agents were following him. His family described feeling shocked, heartbroken and completely unprepared. Despite persistent efforts, they struggled to get timely support. They battled to ensure that they were included in care decisions, and had to fight hard for regular reviews from the specialist.
While Ewan has since made a remarkable recovery—I pay tribute to him, and I am proud to say that he has just celebrated one year of work experience, part time at Lidl—and he is now once again his warm, bubbly self, his family’s ordeal has left a permanent impact. They now view his happiness as their priority, recognising his enduring vulnerability.
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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.
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.
This week, I had the awful news that the father has been diagnosed with cancer. The question for the family is this: how will they cope without their dad? I helped them with the DLA renewal—I understood the issues and tried to put them across as best I could—but I often wonder why someone has to have a DLA or personal independence payment renewal for Down’s syndrome. It is almost inconceivable to me that it happens. But the question is not just about that. What happens while the dad, nearing 80, is battling cancer? What happens if he passes on from this world? Those are questions not simply for that family in Newtownards, but for families throughout the United Kingdom of Great Britain and Northern Ireland who are ageing and wondering what the next step will be for their adult vulnerable child—an adult in so many ways, but also a child in others.
The underlying need for that family, and for so many others like theirs, is support. They do not know how to handle their child who has stopped responding to them, and feel alone with the changes. As a society, we have rightly moved away from institutionalising Down’s syndrome children. But, with great respect, I believe we have also abdicated our responsibility towards adults with Down’s syndrome and their families—and that needs to change.
In Northern Ireland, the incidence of Down’s syndrome is one in 770 births. That shows the level of support needed for families, and for us back home. My gut feeling is that the numbers are probably the same over here on the mainland. It is not acceptable to throw PIP at a family and walk away. They need respite care for weeks, maybe longer, and day support classes to give their child routine and something to live for.
I am involved with an organisation called East Coast Day Opportunities. It is run by two ladies, Janine Patton and Llewellyn McClurg, in Portavogie in the Ards peninsula where I live. They worked for 20 years at the Tor Bank special school and were touched by the fact that after their education ended at the age of 18, vulnerable adults were left at home all day, so they fought for a form of funding.I know it is not the Minister’s responsibility—it is not about that—but they are still fighting to ensure that individual young people receive their funding. There should be no battle. Dedicated support should be available to enable families to keep their child at home with them. I think in particular of that family in Newtownards who are under such pressure.
In conclusion, support and succour are needed, and that is what we look to the Minister to provide. Regression must not necessarily mean the end of home care. The only way around this is to acknowledge that we have a hard obligation that we must do better in fulfilling.
We have excellent support networks for individuals with Down syndrome, but DSRD falls into a blind spot. There are no standard diagnostic criteria in current NHS guidelines, research funding is scarce, and few clinicians are trained to recognise or treat the disorder. The referral pathways are often unclear, leaving families in limbo during what may be the most frightening period of their lives.
We must recognise that this is not just a medical issue; it is a human one too. One of the greatest challenges with DSRD is the difficulty in diagnosing it. For many parents, their first concern is dismissal by medical professionals. When a young person with Down syndrome begins to show signs of regression, the common response is often that it is simply part of their developmental journey—a phase that will pass. Concerns are too often brushed aside, leaving families feeling unheard and helpless. This dismissive attitude can delay proper diagnosis and treatment, worsening the young person’s condition.
Medical professionals, although experts in their field, may not be aware of this specific disorder and, as a result, may not recognise the signs when they appear. For parents who already face the complexities of raising a young person with Down syndrome, having their worries minimised is an additional burden. Their instinct is to protect and advocate for their child, yet they find themselves in a constant struggle for acknowledgment.
But there is hope, if we act. We need more research in the UK that investigates how this disorder presents in our healthcare and social environments. We must also push for clinical trials in the UK, because similar trials in other countries, particularly the US, have shown that with the right interventions it is possible to help children with this condition to return to their baseline level of functioning.
We need clear diagnostic and treatment pathways to be developed by the NHS and the National Institute for Health and Care Excellence, in collaboration with experts in Down syndrome. Doctors and mental health professionals must be trained to identify the early signs of regression and respond with urgency and compassion.
We must listen to parents. When they voice concerns, we need to take them seriously. They are experts on their children, and dismissing their worries can delay crucial intervention. Families deserve real support, not dismissal. They need practical guidance, better access to care and peer networks that they can turn to during moments of crisis.
The public need to hear more about this condition, because the more we talk about it, the closer we get to funding solutions and saving futures. Every person with Down syndrome deserves the chance to thrive without fear of losing the progress they have made, and every family deserves to be believed, supported and empowered when regression strikes. Let us give Down syndrome regression disorder the attention it desperately needs before more voices are silenced, more smiles fade and more potential is lost.
Research into DSRD remains limited. Though the condition has been recognised since as far back as 1946, there is still no national diagnostic pathway, no agreed treatment protocol and very little professional training. However, 80% of those who receive appropriate and timely treatment show significant improvement. To get there, we need to raise awareness. We must improve diagnostic clarity and ensure that support services are properly resourced and accessible, and that families are listened to, because they know their young people best.
Today, along with colleagues, I am calling for greater clinical awareness of DSRD across health and social care; the development of UK-wide diagnostic and treatment guidelines; and investment in further research to better understand this condition and its triggers. For the families affected, timely intervention can mean the difference between recovery and long-term suffering. I hope that this debate will be a step towards giving young people like Ewan and their families the understanding, support and hope that they deserve.