FAQs · Intellectual Development

I have a 13-year-old daughter with quite mild Noonan Syndrome, but I am concerned she may have some learning difficulties and anxiety issues. A speech therapist has assessed her and is happy she is okay, but I am not so sure. Is this a trait of Noonan Syndrome?

You should ask your GP for a referral to a clinical psychologist so your daughter can get an appropriate assessment. If your daughter is already under the care of a specialist, such as an endocrinologist or a paediatrician, it might be faster and more effective to ask them to refer her instead. If not, then the GP or even your daughter’s school should support in getting her properly assessed.
Learning difficulties can be an issue for many Noonan Syndrome youngsters, so this is something to discuss with your GP, daughter’s school and/or specialist if you have one. Anxiety can stem from a range of issues, so whilst this might relate to NS issues, it isn’t a clinical feature of the syndrome itself. The best thing would be to get your daughter seen by a specialist who can look at her full medical history and make a considered assessment.

Our 25-year-old son with Noonan Syndrome is on testosterone therapy in the form of monthly injections. During his transition from childhood to adulthood, he received various treatments (topical gel, oral capsules, monthly injections) but since he’s been on the monthly injections, we’ve noticed a significant adverse change in his behaviour. From previously being a happy, contented and sociable young man, he has become increasingly aggressive, argumentative, sullen, is behaving inappropriately sexually and can’t understand the potential consequences of this. His endocrinologist says the medical needs for his testosterone (preventing osteoporosis etc.) far outweigh the negative behavioural effects, but an obstetrician friend has questioned why he’s receiving this treatment if it’s having such a negative impact on the quality of life. What can we do?

We are sorry to hear about the issues that seem to be arising from your son’s testosterone treatment. While we have not seen this specific situation before, it might be that asking for a referral to another consultant, perhaps in another hospital or in a more specialised setting, might be useful. A different view or a greater knowledge of the latest treatments and approaches can sometimes be found in a second opinion, though there is no guarantee that their view will differ from that of your current endocrinologist.
Developing a mature approach to relationships can be challenging, particularly for people with learning differences, and it might be worth speaking to Social Services or other support organisations about this. Local authorities sometimes have their own counsellors working with adults with learning disabilities, or they may be willing to signpost a local organisation providing this type of help. Mencap produce a guide (Sexuality and Relationships Resources) which may contain useful resource links.

My 20-year-old son was diagnosed with Noonan’s when he was 10 years old. With a lot of support and help he did reasonably well at school and college, but is now struggling to adapt to adult life out in the workplace. He finds it particularly difficult to express his feelings and emotions. I just wondered if you could recommend someone who might be able to help or offer advice.

It’s understandable there will be some challenges in moving from the safe and known environment of education into the new and at times confusing world of work. Mencap have produced a resource leaflet which may have some useful links for help with building relationships and expressing emotions. Keyworkers at support organisations are very experienced in working with these sorts of issues, and can offer advice to parents as well as directly support your son.
There are also organisations who support adults with learning difficulties in employment, acting as a bridge between the employee and employer to ensure the employee is fully supported with practical issues around employment (understanding HR and payroll etc.) as well as workplace relationships. If you do an internet search on ‘supported employment services’ in your area, you should find the organisations that help with this. They are also a useful point of contact for other activities and specialists in your area who may be able to provide specific support to you and your son.

I am a SENCo at a primary school and we have a child in year 5 with Noonan’s Syndrome. I was wondering if you could provide me with support or advice on how best to educate her on what to expect in puberty and teenage years?

We aren’t aware of any specially adapted resources in primary school in preparing for puberty (only the standard resources given to all children). In preparing for secondary school, if she has learning difficulties and/or autism and you feel she needs a more simplified version of puberty education, her mum could ask for this at the EHCP annual review and the school should be able to provide it. There are also sexual health charities who can support, such as Dhiverse, who have a programme for children (aged 11+) with learning difficulties or autism called ABC: https://www.dhiverse.org.uk/our-services/learning-disabilities-difficulties/. They produce a free booklet and a leaflet which is more simplistic with pictures and they run a workshop programme. You would need to search online to find something similar in your area. Mencap also produce a guide (Sexuality and Relationships Resources) which contains information and links that might be useful.
Girls with Noonan’s Syndrome tend to have delayed puberty and start their periods later. This is less so if they’re taking growth hormones, but even with those they will start their periods later than their peers, which could potentially cause stress if she doesn’t realise beforehand that this will most likely be the case. NS girls also tend to have heavy periods because of problems with blood clotting. There are options to deal with this that her mother could discuss with her GP if it causes issues with her school attendance and/or participation in activities.

My son’s paediatrician has suggested we get a WISC test for him. Please can you let me know if you have any recommendations for this.

The WISC test (Wescher Intelligence Scale for Children) is an intelligence test for children which generates an IQ score for the child. This is done by a clinical psychologist and can be used in evidence towards the Educational Health & Care Plan (EHCP) at school. Any consultant the child is seeing can make the referral, or the school might be able to organise an educational psychologist to do it. Our understanding is that it is best done in conjunction with other tests.

I need a bit of help as I have been tasked with writing a risk assessment and revised job description for a female employee with Noonan Syndrome working in a residential care home as a waitress. Is there anything specific I should include/ask that wouldn’t be apparent to someone unfamiliar with the condition?

Noonan Syndrome presents in different ways for different people, so risk assessing would need to be done on an individual basis. Talk to the employee to find out if there are any additional risks or requirements such as mobility issues and/or difficulties with fine motor control, which could present specific needs around lifting/carrying, or learning difficulties which might impact on how well the employee can understand instructions, express concerns, or ask questions of their employer. Many adults with NS have very few issues that would need additional risk assessment or changes to a job description.
There are charities that offer support—search online for ‘supported employment services’ to find organisations in your area who specifically work as a bridge between employer and employee, to support both parties where the employee has a long-term health condition or physical or learning disabilities. They will have lots of advice and information that you could find helpful, and they may also be able to step in and support this staff member during her employment too.

From early on, my child has had feeding difficulties and from that there has been an impact on language development and behaviour with food. Is there any advice?

It can be difficult getting a child to feed who might not be able to feed well or who has an aversion to feeding. It can become a bit of a family struggle and there can be a behavioural aspect developing from it. It’s useful to break down exactly what the problem is because it may be an immaturity in terms of swallowing, sometimes it can be tongue-thrusting – when you try to put food in, it’s pushed out. By analysing that, you can sometimes come to a programme of treatment with the therapist which will improve the feeding.
One parent found that giving a child with the tongue-thrusting issue, spicy and highly-flavoured food eventually led to him starting to enjoy his food although it took time. Speech and language involvement is extremely helpful for a personalised plan.

Where should a family go for support for a child with Noonan Syndrome and ADHD who hadn’t had success going to CAMHS and a psychologist whose only suggestion was medication such as Ritalin which their cardiologist said her daughter couldn’t have with her heart defect.

Obviously the specific answer depended on the specific cardiac manifestations that the child has. As a general rule it is true that medication like Ritalin can affect the heart – it can speed it up and it can sometimes cause abnormal heart rhythm. But one view is that it is a balance between how much the symptoms of ADHD are affecting the individual’s quality of life balanced against the possible risk of an abnormal heart rhythm with the medication. What normally happens is that if medication is considered the right treatment for the ADHD, the treatment is started with very close cardiac monitoring – ECG and perhaps 24 hour tape – and in the majority of cases there aren’t complications. Of course it depends on the specific condition and it’s vital to know what the specific heart condition is but ADHD plus Noonan Syndrome should be a caution not a contra-indication when it came to medication.
In terms of support, the family were going down the best route in that they had a psychologist involved and CAMHS but it was also important to get everyone to communicate well with each other which was a real key with behavioural issues. It isn’t easy but is the best approach.

My son has ASD/ADHD. Other than medication, what other routes are there?

This depends upon the age of your child and other circumstances. There are a range of psychological therapies for ASD. From early life really focusing on improving social communication, usually in a family or parent-child context is proving effective and has opened up some really interesting thinking about the flexibility of Autism symptoms. Psycho-social therapies are important including parent-child communication, and aiding social skills and social adaptation. The child can learn techniques and coping strategies and so-called social stories are very popular and are really quite effective. It is also important to consider the environment in relation to the child; the lives of these children can be made hugely better if the environment can be adapted round them and understands them. So, ways of managing and working out strategies for social situations when you find it difficult. For ADHD, it’s a slightly different picture, but environmental adaptation can be useful.

On social media, there’s a lot of discussion about sensory issues in children with Noonan’s. Is there any link to those sensory issues and behaviour and have there been any studies done on that?

What people usually mean by sensory issues are some atypicalities or unusualness in processing sensory information of all kinds – incoming visual, auditory or touch but also sensations from inside our own bodies, what we think of as proprioceptions. Children do vary on this and it is true that as part of the Autism spectrum complex, these kinds of sensory processing problems are often intrinsic to the difficulty. They also though occur outside autism as part of particular developmental difficulties. But they’re very real and they can be associated with behavioural difficulties for sure. The assessment of these is not as advanced as for some other areas of behaviour and development in the professional literature –
there’s not as much assessment and research work on this area. But I think it’s a growing one and yes often these things are related to behavioural difficulty and managing them can have really tremendous benefits on behaviour.

Last year my 15-year-old grand-daughter had an episode of seizures for two weeks and after much testing it was said she was having ‘pseudo-seizures’ so basically, they were saying it was psychosomatic. Since then she hasn’t had any more seizures but this year, we’ve had a couple of more problems. One, eating and drinking – she couldn’t swallow water without bringing it up. Having had many tests, again it was psychosomatic – there was nothing actually wrong with her. Then recently, about a week and a half ago, she had these awful stomach and leg pains, absolutely crying. Is this something that other people with Noonan Syndrome or family members have experienced? It seems to be about coping because although the symptoms are very real, the causes aren’t real?

There are quite a few psychological problems that sometimes occur in Noonan Syndrome. With any child who has symptoms that we can’t find an organic cause for, people might say they are psychosomatic. It’s very important to be aware that they could be a symptom of quite marked psychological distress for whatever reason, and if she’s had three episodes in a fairly short time then it might be worth getting a psychologist to see her. People need to remember that behaviour that’s perceived as bad or difficult is usually a symptom and with this type of illness, particularly as she’s had these three episodes, you just need to be confident there isn’t something underlying and distressing going on. The fact that there’s no organic cause for it and it’s been labelled as psychological doesn’t make it any less real. You have to bear in mind the impact it’s having on her and the people around her and psychology is a well-recognised area of medicine. We all have psychological issues on a spectrum so it’s learning how you can manage those things. What you need to be careful of is the fact that although she’s had three different areas that have been attributed to psychological issue you still need to be very sure that there wasn’t an organic cause for each of those in turn. We need to be careful that we’re not putting everything in the same basket as a psychological issue and failing to address something that does need treating. I think getting psychology input is something she has clearly demonstrated that she needs and you should try and push this with your GP or your local paediatric team. Clinical psychologists are available although waiting times are quite long.

Is there any link between sensory processing and toileting with Noonans? We have a seven-year-old who just cannot stand bright light, loud noises, and he just will not sit on the toilet.

Bearing in mind there are different spectrums of behavioural issues across the entire population we are probably coming to the upper age limit where those behaviours are relatively normal in terms of development, but clearly they are not quite right because they have carried on into slightly older childhood. It may be worth considering other diagnoses in that element. There are other conditions where children are overly sensitive to noises and other senses. It’s worth keeping an eye on; sometimes a general paediatric view, sometimes community paediatricians can be good a teasing out if those signs can be attributed to other diagnoses.

What is the best way of getting the right resources for a medical referral for psychiatric help?

It is a sad fact at the moment that there aren’t the resources to give people proper psychiatric assessments throughout the country. It’s very patchy – there are some excellent services and there are some areas of the country where the services are very thin on the ground. The Government do accept this in principle and have allocated extra money however the resources devoted to child health and child mental health specifically are a very small proportion of general health resources. If you need support the most valuable thing you can have is a good GP or a good general paediatrician who can advocate for you and knows their way round the system.

My son is six years old. If you’d asked me before if he had any traits of Autism, I’d have said no – he has lots of eye contact, you can tell if he’s sad or happy, has great emotional awareness but he’s totally fixated on cars and is very stubborn and I wondered if we should investigate this further, to make sure his medical practitioners and his school are aware that he might be on a spectrum of Autism.

You’re right that autism is a spectrum and a behavioural syndrome. It’s defined and assessed through understanding a pattern of child behaviour through development. We know that those patterns of behaviour tend to co-occur together over development and be quite persistent. Some children do have some bits of it and not others as it were but on the other hand there are also other reasons why a child might be interested in cars or might be struggling. So, you shouldn’t inevitably assume that one little bit of the collection of symptoms actually means it’s part of autism. Generally, in child behaviour, there are lots of different causes for a fairly limited range of behavioural presentations – there are lots of different causes so that’s where you need someone to make an assessment.

My child gets very stressed about any challenges that the teacher sets and I worry they aren’t receiving the right emotional support at school. Can I do anything?

One of the areas in the Code of Practice is social, emotional and mental health issues and emotional support is exactly what that covers. If she is having anxiety issues, school should be putting in strategies around that. If they don’t know what to do, they can get an Educational Psychologist to suggest strategies, but a lot of schools have buddying or mentoring groups that work in boosting self-esteem so there are things schools should be doing in addition to just “learning”.

My son has got Noonan Syndrome but his situation is complex. I am getting him ready to go to a special school for reception in September but I do not know what is or what isn’t the right funding for him. I am trying to understand what is the right type of support that my son needs and I am worried about the views of my local authority. Should I pay for an expert second opinion?

If you are going through the education health and care plan you have to have an education psychologist report and if necessary, speech and language report and / or OT reports which are all funded through the local authority. As some parents worry that the local authority is only putting in their reports what they think they can provide parents often do go for private assessments and get somebody from another organisation to come in and assess the child to see what they think professionally they need. The local authority has to look at those reports, however they don’t have to act upon them. If a family feel they have not been awarded adequate provision then the process would be to enter a tribunal. It shouldn’t cost anything to go to tribunal, there are lots of organisations that can support parents through the process, but it is a court of law. It is a stressful situation; it takes lot of work to put your case together and it is not an easy solution. It can be a challenging situation. There the funding cuts that are happening nationally, but most schools will try to do the very best for the children. However, it is important that your voice is heard and that you keep your voice heard.

Our daughter has an EHCP that has just gone through the review process and she has received a good amount of funding. We live in London in one borough and may be moving to another borough before school starts in September. How easy is it to transfer and will the funding automatically come with her or will the borough say no so you have to start again?

When the EHCP transfers, the new local authority would look at the current plan and they would put your child in the provision that would be the appropriate for them on that plan. However, within about a term they would then do a review of that plan as authorities have different ways of funding their special needs budget. If there is a local parents organisation for special education needs in the borough then these are very useful as often parents sometimes are the best source of information. Especially parents that have been in the situation and in the system for decades.

What can I do about my child in education who is borderline but not statemented for special needs?

Just because a child didn’t have a statement of educational needs or an Education & Health Care Needs assessment didn’t mean that their needs shouldn’t be met. Any child who is identified as having a special need or disability, is entitled under the Equalities Act to have education and support in school. It’s important to go back to the school and talk to them about it. It doesn’t matter if the child has a diagnosis or not, if they’ve identified some weak areas then the school should be addressing that through the SEN Support and should have a plan in place. They should have a cycle of assess/plan/do/review and the parent should be involved in designing and reviewing that plan.

Can partial ASD (Autistic Spectrum Disorder) be explained by the way other children treat them as a result of their differences and by their medicalised experience?

The simple answer would be no. ASD caused purely by the way a child is treated or by the way their peers treat them is not something that we see. ASD is a different kind of problem to that. Of course, the way a child is treated can exacerbate an underlying vulnerability and that can bring things out or make them worse but as a primary cause we don’t see that, no.

My daughter is in the process of going through an education health care needs assessment but her reports for health including OT are 5 years old. She has been re referred for therapies but the new reports will not be completed in time to be considered for the assessment.

Awaiting reports can cause a delay so to avoid this you would complete your EHCP and then when the reports come you then submit those to the local authority and you would ask them to make amendments to the EHCP to take into consideration those reports.