Rare neurodevelopmental disorders: your guide
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Rare neurodevelopmental disorders: your guide

Pavan Amara Nurse, midwife and health journalist

How families can be key in boosting learning disability nurses’ understanding of rare neurodevelopmental disorders

One complex area of learning disability nursing relates to caring for people with rare neurodevelopmental disorders, which often affect physical health, mental health, social activities and family life.

Learning Disability Practice. 27, 1, 10-13. doi: 10.7748/ldp.27.1.10.s5

Published: 08 February 2024

However, the myriad conditions that fall within the definition mean it is difficult for nurses to have a detailed understanding of all of the rarer neuro-developmental disorders.

Prevalence in UK

In the UK, 3.5 million people are affected by what are classified as rare diseases.

The prevalence of neurodevelopmental conditions among children is between 3% and 4% in England. Some of these conditions, such as attention deficit hyperactivity disorder, are well known, but nurses might only have a basic understanding of others.

‘There are hundreds of rarer neurodevelopmental disorders,’ says RCN professional lead in learning disabilities nursing Jonathan Beebee.

‘During learning disability nursing training, you’re given the basics on genetics, how genetic conditions affect people and how they’re caused. You’ll learn about the biopsychosocial aspects, which will include the physical cause of some conditions, how the genes can affect the body, how a condition affects people’s ability to make friends and social contacts.

‘The psychological part can include knowing about how some conditions cause premature ageing or a higher risk of early onset dementia or depression. But you can’t know all the information for each condition.’

Mr Beebee recommends that nurses make use of resources from Contact, the charity that works for families with disabled children, to learn about rarer neurodevelopmental disorders when necessary.

‘Too often, it’s the family of a patient who make sure various departments are communicating. They follow up appointments and make sure tests are ordered’

Zoe Morrison, syndrome without a name paediatric clinical nurse specialist, Cardiff and Vale University Health Board

Its website has an A-Z of medical conditions section, which lists pages of conditions.

Making a diagnosis

‘Diagnosis can be a challenge,’ says Mr Beebee, ‘Some conditions are easily identifiable. For example, although Down’s syndrome is a common condition, you can tell most people who have it by looking at them – diagnosis is easier.


Some conditions, such as Prader Willi or fragile X, have genetic causes

Picture credit: iStock

‘A rarer form of the condition such as mosaic Down’s syndrome is harder to diagnose, because it doesn’t cause those same facial features, but it does have some of the associated health conditions.’

On average, it takes four years to receive a diagnosis of a rarer disease. People with Down’s syndrome are more likely to experience leukaemia, congenital heart problems, early onset dementia and others,’ he says.

‘By knowing what the prognosis is with syndromes and conditions, you can effectively put in a life plan for what health checks are needed for that person.

‘Every adult with a learning disability has annual health checks and if we can add syndrome-specific information then we can tailor it and say: “Let me check for thyroid disorders, let me check for constipation etc.”.’

Related illnesses

Associated conditions depend on the condition. For example, with Angelman syndrome, people may experience speech impairment, ataxia, seizures and other symptoms.

Those with Prader-Willi syndrome can develop eye problems, osteoporosis and poor muscle tone in the gut. Mr Beebee says that most learning disability nurses will learn about associated conditions as they work with different clients:

‘You may be a community nurse and someone with Angelman syndrome comes your way, and perhaps you’ve never heard of it before,’ he says. ‘If you know where to look, for example the Contact website, then you can do your research on it.

‘Then you learn what happens physiologically, psychologically and socially. You check for these things, talk to the family and the person about how these things could affect their life – that way you can develop person-centred care.

‘A person may have challenging behaviour, but once you have more information you have a better idea of why that started. For example, some conditions may affect the thyroid. If that person is also experiencing mental health problems, you may think to check their thyroid because that’s what could be affecting their mental health, as abnormal thyroid hormone levels can result in a fluctuating emotional state.’

According to the NHS, multiple factors can contribute to learning disabilities. These include the mother becoming ill during pregnancy, problems during the birth, illness or injury in early childhood, and certain genes being passed down from parents.

Some conditions such as Prader Willi or fragile X have genetic causes. Yet, in most cases, the cause of a learning disability will be unknown.

‘There are many potential causes, but if there is a genetic cause for a rarer condition then knowing about it can help nurses,’ says Mr Beebee.

‘If you have a patient with fragile X syndrome, knowing how it affects the X chromosome will be important to understanding why women and girls are less severely affected by it.

‘This is because women have another X chromosome, whereas men only have the one. If you’re seeing certain patterns in patients, such as more men being more severely affected by it, you’ll know why that is.’

Cardiff and Vale University Health Board syndrome without a name paediatric clinical nurse specialist Zoe Morrison provides care for children and families living with undiagnosed diseases She says that this patient population is likely to include children with neurodevelopmental disorders that have not been diagnosed due to their rarity.

‘The families of these patients still have to fulfil the roles and responsibilities of mum, dad, brother and sister,’ she says. ‘This can be difficult as it is, but add in a rare disease and those people also have to become experts in their loved one’s condition.

‘Too often, it’s the family who make sure departments are communicating. They chase appointments and make sure tests are ordered.

‘They become the experts on this rarer condition that the staff perhaps haven’t come into contact with. It takes a toll on their mental health and social life; they can feel guilty if they take time to themselves.’

Six rare neurodevelopmental syndromes

  • 1. Angelmansyndrome– caused by missing or altered genetic information. Individuals can have happy and excitable personalities but can also show aggressive behaviour, such as hair pulling. Associated health conditions include scoliosis and reduced mobility. Most people will have a severe to profound level of learning disability

  • 2. Kleefstrasyndrome– caused by missing chromosomal information. More than half of individuals with the syndrome are born with a structural heart defect with many experiencing delayed motor development. Some children prefer to be with adults, and over time their speech skills and sleep patterns may improve

  • 3. Fragile X syndrome – arises from a genetic mutation on the X chromosome and affects more males than females. Most people will have physical features of the syndrome, but these vary with age and sex, as do associated symptoms and behaviours. Repetitive behaviour, sleep problems and impulsive behaviour are common

  • 4. Prader-Willisyndrome – a rare genetic disorder. People with the syndrome may repetitively ask questions, insist on established routines, experience impaired satiety, which leads to excessive eating and an increased risk of obesity. Sleep problems and a later onset of puberty are also common

  • 5. Cornelia de Lange syndrome – caused by a genetic change on a single gene. Many people with the syndrome have striking facial characteristics and limb differences. Compulsive behaviours and social anxiety are common, and some exhibit selective mutism. More than half of individuals will engage in self-injury

  • 6. Rubinstein-Taybisyndrome – also caused by a genetic change on a single gene and physical characteristics include broad fingers and toes. Individuals are often friendly and sociable, and some experience mood changes, impulsivity and repetitive behaviours. Heart, kidney, skeletal, dental and eye problems are associated

Source: Further Inform Neurogenetic Disorders

Extra element of guilt

Mr Beebee says that if the learning disability has been passed down due to genetic or hereditary causes then ‘that can add an extra element of guilt because parents mistakenly think it is their fault that the child has the condition’.

Birmingham City University senior lecturer in learning disabilities nursing Helen Jones says that some conditions make it challenging for professionals to pick up mental health concerns and the family plays a large part in recognising symptoms.

‘With rarer neuro-developmental disorders, we’re usually talking about a moderate-to-severe learning disability,’ Dr Jones says. ‘Using standardised mental health assessment tools for this can be difficult.

‘Standard assessments won’t recognise the small changes to behaviour that carers or families will. Certain things may be attributed to physical health issues but could be about mental health.’

Even if concerns such as changes to eating habits are due to physical health problems, these can lead to mental health deterioration in the longer term and need to be identified quickly.


‘By knowing what the prognosis is with syndromes and conditions, you can effectively put in a life plan for what health checks are needed for that person’

Jonathan Beebee, RCN professional lead in learning disabilities nursing

‘If someone isn’t eating well or they’re not sleeping well or they are not being stimulated enough, it can lead to poor mental health,’ says Dr Jones.

If people can communicate problems to those around them, it reduces the reliance on family members.

‘That’s why good communication is the foundation to everything,’ she says. ‘If that person can make themselves heard, it is important for them and those around them.


Family members often become an expert on the rare condition of their loved one

Picture credit: Tim George

‘Many patients have a communication passport that outlines their communication style. Once you know that, you can more accurately assess their feelings, pain levels and their fears. With communication you can complete interventions more easily, as they can tell us if they’re happy to be touched.’

Respectful support

Mr Beebee says that supporting a person to develop their social skills has to be done with respect for their condition.

‘There is a man I work with who gets excited during coffee mornings. He asks lots of questions, and I’ll be in the middle of answering one when he starts asking me another. He has a lot of anxiety and if I was to say to him: “That’s a bad thing to do– I wish you wouldn’t do that,” he would start crying and tell you how sorry he is. It’s not helpful to upset him,’ he says.

‘But if you don’t challenge this at all, it won’t help him develop social skills; it won’t help him get a job or a girlfriend, which he wants. So if you say: “Oh I didn’t finish what I was saying,” he remains confident, but holds back on asking the next question until I’ve finished speaking.’

‘That is shaping his social skills in an environment that’s accepting – and that’s what people need.’

Further information

Contact: contact.org.uk

Read full article at rcni.com/rare-neuro

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