Can there be a risk of developing heart issues later in life if there are none at the moment?

Not usually. You may want to check out our webinar on heart issues in NS.

Can HCM cause sudden death? Are there any warning signs to look out for?

In a small number of patients, HCM can cause sudden death, although this is much rarer in Noonan syndrome/RASopathies than in other forms of HCM. We have found that certain markers on echo and the history can help identify which patients with HCM have a higher risk and would benefit from implantation of an ICD – the cardiologist will be looking at these markers and will be best placed to decide whether there are any markers of increased risk

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.

Our son was diagnosed at the age of 8, and he has a severely concave pectus or chest. Is this purely an aesthetic issue, as the specialists say? Should consideration of treatment wait until he reaches puberty or older so that it’s his decision, and is there a relevant connection with Noonan’s?

The panel’s understanding was that this was generally and usually a cosmetic issue rather than something that would cause a problem with the heart. It’s very unusual for such a condition to compress the heart and cause a problem. Occasionally problems with the chest wall can cause problems with lung development. The chest wall continues to develop as the child grows so it’s often a good idea to wait until the child has stopped growing before making a decision.

Is a child’s auditory neuropathy (hearing loss in which the outer hair cells within the cochlea are present and functional, but sound information is not faithfully transmitted to the auditory nerve and brain properly) a result of having Noonan Syndrome?

Some children with Noonan Syndrome have problems with hearing, most commonly “glue ear”. It’s possible that the child’s condition was linked to Noonan Syndrome but more information was needed. There were genetic tests which should be able to tell if the condition was linked causally. People with Leopard Syndrome, closely related to NS, often suffered hearing problems.

Our baby was born with extreme hydrops (increased fluid around the pregnancy). The obstetrician basically did a quick “Google” search as he had no guidelines for pregnancies for Noonan Syndrome and didn’t find anything that could go wrong but we wondered if there were plans to write any guidelines?

The problem is that hydrops occurs in a lot of different conditions so the problem for the obstetrician is what the underlying cause is. They may look for a number of causes – infections for example – and Noonan Syndrome comes a long way further down the line and sometime doing the test can take some time in getting the results. Certainly, a number of labs will offer the PTFN11 test for Noonan Syndrome if they think that’s a possible diagnosis in the womb. Hydrops is due to lymphatic problems so there have been a number of examples where Noonan Syndrome cases have presented with hydrops. Hopefully there a paper will be produced on this and particularly regarding prognosis and what’s best to do in the prenatal period.

Can the gene change over time?

No – the change in the gene is fixed at the time the egg and sperm fuse and the gene does not change with time.

Any advice about feeding problems?

Feeding problems are difficult but do improve with time – best to have input from a speech and language therapist.

My understanding is that in Noonan’s puberty can be delayed in boys, but is it the same for girls? My fifteen-and-a-half year old girl is a physically fully developed young woman but hasn’t had her period yet. She is PTPN11 with a pulmonary valve stenosis.

I don’t think we recognise progressive liver disease as a common association with Noonan Syndrome. If there’s no sign of any auto-immune issues then I think the liver team should treat you as they would anybody presenting to the liver clinic. They like to do lots of tests and that would seem to be the sensible approach in this case.

Are respiratory problems quite common with Noonan Syndrome? My daughter has pulmonary stenosis, HCM and an ASD but everything that keeps putting her in hospital is respiratory. Any infection turns into a major infection on her chest and hospitalises her. She’s been admitted thirty-two times in two years.

It’s sometimes very difficult to distinguish lung related causes and heart related causes in this situation and we also know that respiratory infections that might be very well tolerated in individuals without heart disease often are much less well tolerated in children who have cardiac involvement, particularly when there’s a combination of things. So if you have hypertrophic cardiomyopathy and pulmonary valve stenosis and an ASD, these are three different things that effect the heart in slightly different ways and so we’ve certainly seen that children who present with chest infections that you wouldn’t normally expect to cause significant symptoms, take a lot longer to get better, and often children feel much worse with them during that time. I’m sure that they’re right that the cause of the deterioration is respiratory – a lung related issue but I’m sure that the heart is contributing in that it’s making things worse. Individuals with a cardiac condition are eligible for an immunisation for the RSV virus which is worth exploring. Another thing to think about here is family history of respiratory conditions. For a child to be admitted thirty-two times is quite marked, there’s something going on there that does need to be evaluated. There could be some immunological investigations that could be helpful. It may also be a consequence of small micro-aspirations that she has now developed a condition whereby she is oxygen dependent. Again, its things we can address and she could grow out of but we need to know the causes so there will be all sorts of tests like speech, language and swallow assessments.

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.