This will be a lengthy guide, but that is because I want it, and you need it, to be extremely all-embracing. I will try to make it as logical as possible but there is also a menu you can use to jump to specific sections should you need it.
There is a lot of overlap between each section, this is because there are a number of ways to get on the autism pathway and because looking for autism is meant to be an interdisciplinary approach.
The Health Visitor
Logically, let’s begin with age. When you have a baby you begin to see a health visitor. Every single time the health visitor communicates with you, even by text, they are making a record of the conversations and observations and they record this on an electronic system. In Scotland the system is called EMIS, I am not sure about the rest of the UK but I assume it is likely the same.
TIP: health visitors, doctors, dentists, specialists etc do not all use the same one online system for recording information about you, your child, etc. This is important to know because one tip I have involves getting hold of the medical records for whoever you have concerns about autism for.
Accessing the health visitors records
This means, should they witness any behaviours of concern they will make note of this on their system (at least they should be doing this). If you get to a point where the health visitor is not taking the action they should, or not passing information on as they told it to you in the past, you can get a copy of medical records by doing a subject access request. Where I live, the health visiting team are part of the local hospital group, this means that is who I need to request medical records from them and not my local doctors surgery. The easiest way to find out what to do is type into Google something like this: “NHS (health board name) subject access request.”
Developmental testing
Children are constantly being assessed for development, even from a very young age. Our midwives and health visitors do certain checks and tests on baby to make sure they are meeting their milestones, and this becomes more formal as our children age.
ASQ questionnaires
The health visitor should be keeping a record of your child’s development, and they do so by using standardised testing questionnaires like the ASQ. This seems to be what is used throughout the UK and you can learn how to score and grade these yourself by typing into Google something like this: “ASQ 12 months scoring sheet.”
The results of the ASQ questionnaire are almost always what initially sets people on the autism pathway. The ASQ questionnaires look for differences in development and behaviour compared to the standard for the specific age group. The final page, that you usually won’t see will give your child a score. Certain scores are cause for concern and will indicate which children need referred for further checks. It is important to take these forms very seriously and actually try all of the things on it (where possible) so that an accurate record of development is kept.
TIP: it is worth knowing that the biggest indicators that help medical professionals look for autism in young children are actually development delays. That is why it is important to highlight any development concerns you have or you may find it a barrier to support in the future.
Some health visitors may not be doing the ASQ questionnaires when they should. Or you may feel like they aren’t happening often enough once you already have concerns. You can find these online yourself and download them and do them and ask for a copy to be added to records. Simply type something like this into Google: “ASQ questionnaire 15 months.”
You should get a couple of options at times, as some cover up to 14 months 30 days, for example, and then the age group above that. Do both if you feel like the child could go into either group.
I am not sure about everyone else, but our health visitors have never automatically shared our children’s scoring with us. Simply ask for it if you feel comfortable, or do a subject access request.
SOGS
One of the only other ones I have good experience of (I am not sure how many formats exist or are used in the UK) is the SOGS: Schedule of Growing Skills. This is a lot more in depth than the ASQ and requires a trained person/s to administer it and grade the child on their skills.
The important thing to know if you haven’t had one is:
- you can request one to be undertaken
- it isn’t something to worry about and is just a more hands on version of the ASQ
- the outcome of it can only be the same as the possible outcomes of doing the ASQ at home: your child may be fine and nothing happens, the health visitor may decide to wait and redo it after a period of time or they may send the child for referral for more specialist input
I would type into Google something like this if I was getting a SOGS test for my child: “Schedule of growing skills manual” and read how they use it and score it. My health visitor scored my sons sheet wrong, after lying about the results when we were in person. I requested a paper copy to show a doctor and saw the true results on the page. The results were also incorrectly placed meaning that my son who she claimed did not have enough delays to warrant a referral (absurd since one delay was 15 months, a couple at 9 months and a few more and they are advised to use their judgement if there are multiple delays across the board), actually met the criteria set out in the manual to be referred for significant delays.
EYCAT
EYCAT is the name given to this type of development test in my local health board, and I think it will have different names in different locations. It stands for Early Years Co-ordination & Assessment Team. It is a team of professionals who do something similar to the SOGS assessment – a hands on test with different activities and prompts to see how your child will react. The difference is that this has a larger group of mixed professionals and is not undertaken by just one person. For example, at my sons EYCAT development check we had a paediatrician, occupational therapist and a speech therapist.
It is important to remember that this is not an autism assessment – we were led to believe this for 6 months as we had specifically asked for that. It wasn’t that and we only found out AFTER it had taken place. This is another type of developmental assessment which will look for delays or differences that stand out in your child.
TIP: We were advised that any children without very obvious, stereotypical autism will not be diagnosed at this stage. Paediatricians can diagnose autism, that is the case where I live anyway, but they can only diagnose it in very obvious cases.
Other developmental testing
There are other development tests that can be done. My personal theory on them is that sometimes they happen naturally as part of specific age-related development checks (e.g. my son did a SOGS test as part of his 27 month check). But they also happen as a next-step after ASQ questionnaires if there are reasons to consider a month in-depth test. No matter what type of development test is undertaken, the results should be recorded somewhere and there will also be guidance on what scoring warrants a referral for more specialist support. Make sure to ask to see the scoring and keep a record for yourself.
Keeping and collecting other records
Medical records are very helpful, and I’ve noted a few important types of record above so you know what information you can ask for yourself if you need to present your case to a medical professional who can help pursue a diagnosis for your child.
It is important to remember that your experience, your words, your records are all evidence too, no matter how inferior you are made to feel. There are a few ways you can keep records to back up what you are saying:
- Keep a diary, record down any triggers and types of behaviours you see
- Do a sleep record, record down how long it takes to get ready for bed, how long they sleep, what times they are up (if you are in Scotland you can also work with Sleep Scotland, this means you are a step ahead when discussing sleep concerns because they will tell you all of the ‘right’ ways to do bedtime)
- Record videos or take pictures
- Do ASQ questionnaires by downloading them from the internet
- Seek independent advice
Childcare
Having your child in the care of another person can help you in your search for answers about autism too. There are probably two main types of childcare so I will split them up and discuss each one individually:
‘Professional’ childcare
This is by someone trained to take care of your child. In this type of childcare there should be more records kept and they will be in a professional style too (hopefully). The opinion of ‘professionals’ is highly regarded by others in the medical world and their opinion can make or break getting an official assessment for autism.
Nurseries and schools under the local authority have to keep proper paperwork – and this is great for you because it means you can ask for a copy of it. Again, this is called a subject access request. You can type into Google something like: “subject access request + (name of your local authority)” to find out how to do it. Typically, it is just asking in any form of writing for what you want.
I have put together a template letter for asking for a subject access request, but keep in mind that this won’t work for any organisation which wants it in a specific format (for example, my health board only accept subject access requests based off a document they give you to fill in, but the local doctors surgery are happy to take any written request).
Download my subject access request template: Subject Access Request Template Letter
Nurseries are also required to keep incident and accident reports, like schools should be doing. In nursery, for my kids anyway, we often got a little slip of paper to document accidents. Keep these too, because they are also evidence that can help you fight for the right assessment for your child. Children with autism often lack danger awareness, or will put themselves in danger to meet sensory needs. Make sure to find out why an accident happened and keep records of all of the accidents. With ADHD in mind, ADHD children are impulsive and often act before thinking through the consequences. This is why accident slips are an important source of evidence.
TIP: in my personal case, accident reports often did not line up with what we were being told face-to-face and having this evidence was an additional support to explain why we thought the nursery weren’t quite giving the full picture to medical professionals involved.
Family and friends childcare
This is more informal, but their observations and opinions are still valid. You can ask anyone who has taken care of your child to come with you if you intend to speak with a GP, meet with the school or speak with a specialist about an autism assessment. You can also ask for written statements from them or even keep emails or texts about things they have observed.
TIP: I highly recommend creating your child a gmail address. Why? Because this comes with a Google Drive. I keep a copy of everything I could possibly need for my children in a Google Drive so I can access it any time and I will never lose it.
Other NHS professionals
The next step I would take if I was not being taken seriously by the NHS about my concerns that my child could have autism (or a different neurodevelopmental concern) is to involve any other professionals (where appropriate).
What I mean by that is, checking which professionals you can self-refer to, or have anyone who is backing up what you are saying refer you to. For example, when looking on the website of my local NHS Board (to find this type something like this into Google: “NHS + (your local area)), I found out that I could refer my son to occupational therapy, speech and language therapy, physiotherapy and podiatry. In the beginning, I referred only to occupational therapy for my son. It took a while to get my referral taken seriously but when it was they were one of the most valuable helps in getting my son the help he needed.
When your child attends an appointment with any of these people, they write notes about their observations and they also may highlight issues you never knew existed. My son was diagnosed with hypermobility by the podiatrist, she told us he also has flat feet. She recognised muscular weakness particularly in his core, and this has been invaluable in helping him understand why he can’t ride a bike yet.
Outside of finding concerns you did not even realise existed, they may make note of any behaviour or observations about your child that could help you fight your case for an autism assessment. During podiatry, our practitioner noticed Luke having a meltdown, arching his back and going floppy when his Dad tried to take him out of the room to leave the appointment. She noted this in his records and I always refer medical professionals to look at that if they don’t observe that behaviour for themselves.
Private care
Another route you can take is to consider private appointments if you think they will help. In the end, after years of waiting for a CAMHS referral for my oldest son from his school, I eventually loaded all of my money into a private assessment for my son for ADHD. This freaked out his teacher and the management team in the school and they finally pushed their referral through to CAMHS. My son was in a lot of distress, at crisis point by this time. He was now privately medicated for his newly diagnosed ADHD and his teacher reported to CAMHS that I ‘bought drugs off the internet’ and gave them to my son so his CAMHS referral was pushed right up the list from 2 years to 2 weeks. This won’t work for everyone, but it certainly expedited my sons case within the NHS system.
We have also undertaken private autism assessments for myself and my youngest son. This is because after his EYCAT assessment they continued to notice delays and couldn’t call it autism because it was not ‘obvious’ but they have agreed they see some of the signs. It isn’t obvious enough for a paediatrician to diagnose and the process in my local NHS board is that anyone under 5 is sent to a GP for consideration of their symptoms. The NHS will not refer to CAMHS until the child is 5 years old. They then have to sit on the waiting list until an assessment is carried out (current wait times are around 2 years).
My NHS board has stopped doing any adult assessments for ADHD or autism.
Guidelines
In the UK, there are sets of guidelines for what is expected for the minimum standard of care within the NHS. These are not actually legally binding but they do like to know that NHS staff are using them so we can use them to our advantage.
- In England the guidelines are called NICE guidelines.
- In Scotland we use SIGN guidelines, but where these do not exist we can refer to NICE guidelines.
For autism specifically, here are the NICE and SIGN guidelines for you to check out:
These guidelines are truly your best friend. They may seem overwhelming but go through them in little bursts or focus on areas you really need to know.
Using NICE and SIGN guidelines
If you are in the beginning stage and think your child might have autism, you will probably head to the section about what they should be doing in order to recognise and refer people to find out if they have autism.
Here is an example of how I would use this information to help me:
- Section 1.2.1 states that development concerns should really also be considered with autism as a reason as to why there are concerns. This would help me if someone was dismissing my concerns about autism and explaining it away as something else.
- Section 1.2.2 the parents or young persons concerns about autism should be taken into consideration. If someone is dismissing your concerns you can quote this guideline and ask them why they are not taking the guideline seriously/
- Section 1.2.4 states that they should consult the list of autistic behaviours, but should also not dismiss autism if the exact features are not evident. This is helpful for those people who think autism only looks a certain way or says ‘but they don’t rock back and forth’, for example.
- Section 1.2.5 states that autism is under-recognised in girls. I would use this guideline to fight for any girl who is being dismissed by medical professionals.
- Section 1.2.6 states that autism should not be ruled out due to using eye contact or smiling and using affection to family members. Eye contact is often a reason that many children are dismissed by people who do not know enough about autism. Btw, my oldest son was often dismissed by medical and teaching professionals because of his eye contact, but as soon as a psychiatrist did an autism assessment with him they noticed right away that he was not using it appropriately – he masks his autism very well.
Filter through every part of the guidelines that are relevant and make notes, especially on your phone or computer so you can print them multiple times and give them to the professionals who are dismissing you.
Submitting your own evidence
Now this isn’t an official thing you can do, but I learned from my sons medical records that the NHS will try to upload anything you send them – including emails and texts. I began to print things out and give them to people at appointments.
When I realised not everyone was taking my information seriously I began to verbally ask that they be added to medical records at the end of the appointment. When I realised people were not taking that seriously I began to add a cover letter to any documentation I was adding that stated my request, when I requested it and also ask for a written confirmation of why they won’t add if it they decided not to do that. Then sign and date the letter.
I’ve drafted a template letter that works really well, it asks for a statement of reasons for refusal to document anything which really puts medical professionals into a mindset of helping rather than preventing.
Download my letter to request adding evidence to a medical record: Add Evidence Letter Template
Something I recommend you do is do regular ASQ questionnaires and then request they be added to medical records. You can also do this with any recognised autism questionnaires that are meant to highlight possible autistic traits. Make sure they ones you use are recognised by the NHS or at least written by professionals.
TIP: There are two types of ASQ questionnaire. There is the ASQ3 questionnaires which look at the overall development of a child at the specific age group the questionnaire covers. There is also the ASQ SE-2 questionnaire which looks at the social and emotional development of the child. Certain parts of the ASQ3 are more likely to indicate autism, and the ASQ SE-2 can help identify areas that are consistent with autistic behaviour.
The diagnostic manual
There are two manuals that are used globally to diagnose autism. Which one is used, doesn’t really matter – they are both very well respected.
The two manuals that are used are:
- The DSM 5 (online you may see it with Roman numerals as the DSM V)
- ICD 11
The DSM 5
The DSM 5 stands for the The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. This was written by the American Psychiatric Association and was most recently updated in 2022.
The ICD 11
The ICD 11 stands for International Classification of Diseases 11th Revision. It was written by the World Health Organisation.
You can see that both are written by equally respected and deserving groups, which is why both are widely used around the world and it usually depends on the place/person diagnosing to decide which one they use.
These books can be complex and hard to understand, but you do not need to be a medical professional to buy are read them. I actually bought my copy from eBay. It can be easy to get caught out by the more fun and colourful books that include the letters DSM – but be mindful that the DSM is a medical manual and isn’t designed to be fun and colourful. The version I have, without the update (I believe) is purple. The updated text is blue. I will link some reliable copies of the manuals below:
I’ve not personally bought the ICD 11, or the ICD 10 (which seems to be on eBay and looks legit) so I won’t recommend which ones to go for on eBay because I don’t know which one is the actual diagnostic manual.
Inside the manual there is a breakdown of each mental health diagnosis (I know that autism isn’t considered a mental health concern, but I am just using the terminology the manual uses to describe what it is about). There is a set of criteria to be met, anything that is required for the diagnosis and other potential differential diagnosis’ (a differential diagnosis is the term used to describe an alternative that should be explored and ruled out as the diagnosis before the other one is given).
I felt empowered when I read the DSM 5 because it helped me solidify what I knew, and I could speak to medical professionals in their own language. It also empowered me to correct people who would give me false information about the criteria for diagnosis and I could say something like “well, the diagnostic manual used to diagnose autism doesn’t actually agree with that statement.”
The assessment
As I mentioned before, some paediatricians can diagnose autism if it is ‘obvious.’ This shows us that an official assessment is not the only way to diagnose autism. I can also tell you from reading my sons medical records that this is true – because before he was given an actual assessment (ADOS assessment) they stated in his records that he doesn’t have ADHD and that they have done an assessment. As you may recall, I had taken my son to a private ADHD assessment by this time and I was absolutely sure he did have it. I mention this because the term ‘assessment’ seems to cover a range of scenarios, such as:
- Reviewing paperwork and observing the child and everything else in-between and making an ‘assessment’ of the information gathered
- Doing a formal autism assessment to draw out specific and unique behaviours while adhering to a firm set of guidelines on how to mark the behaviour in comparison to the information on the assessment sheet
In my sons case, I guess they reviewed paperwork from myself, school and everything else that had, paired it with their observations of him in class and then assessed that from what they had he did not meet the diagnostic criteria for autism.
TIP: If you get to that point too, where you are told your child doesn’t have the things you are sure they do – do not just accept the answer without asking some questions. What areas did they not meet diagnostic criteria? Did the school information match what you provided? When you know this, you know how to go back to them with more evidence to fight for your child.
We were told that my sons school did not match what we were saying. Actually, they said specifically that he wasn’t hyper and luckily I had a billion emails to confirm otherwise so I collected the information and evidence I had been saving from the school into a document for the doctor in charge of my son. They had already arranged to do a formal autism assessment. The assessment paired with my additional evidence gave them what they needed to confirm a diagnosis of both autism and ADHD.
My son did an ADOS assessment for autism. ADOS stands for Autism Diagnostic Observation Schedule. This assessment is very specific and draws out desired responses and then grades them on whether they are typical or not. There are different levels of ADOS assessment and which one your child will do depends mostly on how verbal they are. It takes around an hour, and you can sometimes get the result on the same say.
My son did not do a formal assessment for ADHD. He was diagnosed based off the evidence CAMHS had and their observations during the ADOS assessment.
ADOS is not the only assessment type for autism, but it is what will likely be used for your child as it is the ‘gold standard’ test for autism. Myself and my younger son both also did ADOS assessments at our private assessment appointments.
ADOS and levels of autism
The ADOS assessment is literally a paper booklet that the examiner works through and grades based on your child’s reaction to the question, action or other prompt. At the end of the booklet there is a page where the assessment can be scored. The scores are used to mark the level of autism and this is why some people say things like ‘he has level 3 autism.’
It seems like in the UK the professionals involved in ADOS assessments are trying to move away from giving a level value to autism. This is for multiple reasons, but most importantly it is because saying ‘level 1’ autism might give the impression that there are less struggles for this individual, not only that it doesn’t identify where the struggles are and where the strengths are and this is what is truly important.
The levels of autism are as below:
| Level of Autism | Diagnosis | Level of Support Needed |
| Level 1 | Autism Spectrum Condition | Some support is needed. |
| Level 2 | Autism Spectrum Condition | Substantial support is needed. |
| Level 3 | Autism Spectrum Condition | Very substantial support is needed. |
| Any score above 10 | Autism | Very substantial support is needed. |
What the support will look like at each level really depends on the individual. Each person with autism is unique and different, just like people without autism. They cope differently with different things.
We found that the best person to recognise the support our son needed was an occupational therapist and also the well-being and inclusion team from the local authority. Other people who may be able to identify individual needs are:
- Well-being and inclusion teams
- Autism outreach + specialist autism teachers
- Occupational therapists
- Speech and language therapists
- Coaches
- Neurodevelopmental nurses
- Psychiatrists and psycholgists
- Special education needs teachers or support staff
- Sensory play specialists
- Health visitors
- Additional needs assistants
Don’t forget that you as a parent are a valuable resource, and your opinion should be taken into account when planning what support your child needs. It can be hard to identify where our children are struggling, what is normal and what is not… especially if the parent is also autistic.
Knowing why your child has autism
It can be scary to find out your child has something different about them… and sometimes we want more answers. Like why? Why does my child have autism?
Many people find themselves asking this, and also asking if they themselves have autism…
As I mentioned above, parents can also be autistic and this can be unknown to them until they do the research to find out why their child is struggling so much. It is known that autism can be genetic. There is so much garbage information out there, and even doctors are wording things in a way that confuses parents even more.
It is important to know this:
- Autism can be genetic
- Genetic tests from the NHS only look at a selection of genes based off what they think the answer could be, meaning a lot goes untested
- If a genetic cause for autism is not found on your genetic tests, it could still be genetic because 1) all the genetic causes for autism aren’t known yet and 2) the NHS are not testing all of your genes when they do tests (they will do this in some instances, but it is rare)
- There is no ONE reason someone could have autism
- Autism can be extremely different in different people, and this is still relatively unknown and the lead cause of so many people having their concerns invalidated
There is a reason autism looks so different in different people… and I will explain that in the next section.
Genetics
I want to reiterate that there is many genetic causes for autism. Some are more common than others because of the way genetics work. Some are more common in boys due to the nature of genetics and chromosomes and passing on the X or Y.
Understanding autism and it’s link to genetics
I think it is important to try to understand what autism is, what it means, when I had a ‘penny drop’ moment where it clicked, the entire link to genetics made sense for me.
I like to explain it this way, as this is how it made sense to me:
Autism is a neurodevelopmental condition. This means that there is a development problem, or delay that is linked to the brain. In the medical world, anything with ‘neuro’ in it has something to do with the brain. This does not mean that if you dig out your kids brain it won’t look like how it should or be the right size. It just means that somewhere in there something happened that prevented your child from developing neurologically in the ‘typical’ way.
Now, I hope that makes sense because that explanation is the basis for how I am going to explain the next part: what part of my child’s brain didn’t develop as expected?
The brain is made up of different parts. This is important to remember when we think about why autism looks so different between different people. We aren’t usually told which part of our child’s brain didn’t develop as expected, but if we did know, we could probably much more easily predict the symptoms they would have as part of their autism. Each part of the brain is responsible for different functions of the body… So it depends which part was effected, this dictates which struggles and strengths they will have throughout their life.
I hope that is making sense too, because I am about to add genetics into the mix.
When thinking about genetics, the easiest way to imagine it, or make sense of it, is to know that each gene has a job. The jobs can vary significantly, some genes work on processing bilirubin, some work on processing the vitamins we need, some to work on creating collagen to keep our skin stretchy and our muscles strong.
There are a lot of genes, and they are all doing their different jobs. When all of the genes are doing their job well and correctly, we have a fully functioning body and brain that works the way it should. When a gene has a mutation it means that the way they do their job is interrupted, or they can’t do their job at all. This means that whatever ‘thing’ they are responsible for in our body is also interrupted and won’t work the way it should.
Here is an example:
I am not aware of all genetic conditions and their associated gene and link to autism, but I think I remember a discussion in a parent’s group on Facebook about Vitamin B6 (I could be wrong, but my description of why it matters works all the same). If the gene responsible for vitamin b6 has a mutation of some kind, the way the body processes and uses b6 can be interrupted. How your child is affected depends on the type and extent of the mutation (there are different types but the information is complex and probably beyond what you need to know to understand what I am trying to say). There may be a minor interruption in the gene which could cause very little symptoms for the person with the genetic change. Or entire sections of gene could be missing, making the symptoms more pronounced. The people with the same genetic changes will often have similar symptoms, their severity can vary depending on how big and what type of genetic change they have. If the gene is responsible for vitamin b6 but the gene isn’t working how it should then the child could benefit from taking a vitamin b6 supplement. Their autism won’t disappear but they could see an improvement in some of the associated symptoms.
This is why so many people think that you can give supplements or do a detox of some kind and then think it will help everyone with autism, but it won’t. You really need to know what the underlying cause is to be able to try to alleviate some of the symptoms experienced.
More about genetic causes for autism
There is a really good book called the A-z of Genetics Factors in Autism by Kenneth Aitken. I highly recommend reading this because it gives a breakdown of a lot of genetic conditions known to cause autism and includes other symptoms you’d see in them. You can buy this book on eBay here. This will give you a good idea about the more common genetic conditions linked to autism and gives a good background into genetics in general and the hope for research to highlight more genetic causes for autism in the future.
It can be good to know about genetic conditions linked to autism, because there may be other symptoms in your child that you haven’t even noticed… for example something as miniscule as a little overlap of the skin in the corner of the inside of the eye can be a genetic marker for a few genetic conditions but it is probably something you’d never notice until it is pointed out. Knowing other symptoms to look out for can give you more of a basis to fight for an autism assessment and/or genetic testing for causes of autism.
TIP: The guidelines in the UK list multiple situations where genetic testing should be offered to people with an autism diagnosis. You can check out the NICE guidelines medical investigations section here.
Genetic testing in autistic patients
As I mentioned above, the NHS will likely test a set of genes known to cause a specific condition. This is often referred to as a gene panel. Sometimes you’ll hear the term whole exome sequencing. Whole exome sequencing tests all of the protein-coding region. It is more extensive than gene panel testing. You may also hear the term whole genome sequencing. Whole genome sequencing tests absolutely everything there is to test within the genes and leaves no room to miss anything.
It helps to know the difference between the types of genetic tests because many parents who have have gene panels done, and then they come back with no findings, think that this means there is no genetic cause for their child’s autism. This is not true, but there was no genetic cause detected in the panel of genes that they expected to find the answer in. This can sometimes lead to further genetic tests being carried out which check more areas of the genome for answers.
It is really good to get a grasp on the difference between gene panels, whole exome sequencing and whole genome sequencing because it means you can keep asking questions and demanding answers if you are told there was nothing there on a gene panel. It also means you can help educate other parents who are being misinformed.
It is easier for geneticists to detect more common causes for autism, like Fragile X. This is because it is known and well-documented as a cause of autism. The genes that are less well-known are harder to confirm as a genetic cause for autism. There is a reason for this:
- When 3000 people present with the same symptoms and then have the same genetic mutation then it is easy to say with confidence that the genetic mutation is the cause of those symptoms.
- When 2 people have the same genetic mutation and present with the same autistic traits, or general autistic traits that don’t quite align with each other, it is much harder to say that that genetic mutation is the cause for their autism.
The more people present with a genetic mutation and the same symptoms, the more confident medical professionals become to say that is the cause of their autism.
There are so many genetic causes of autism that are deemed to have a low confidence level, so often those genetic conditions aren’t even looked for by the NHS.
Private genetic tests
It is important to know that genetic tests that are mostly about ancestry will not give you answers about any rarer genetic conditions. They look at a number of genes and ignore others.
If you want a complete investigation then you need to have whole genome sequencing done. You can get private genetic tests online but it is a minefield and very confusing.
To save you time, trust me and go with Sequencing.com. I already did months of research and had all of the headaches and I’ve now done the genetic tests with sequencing.com and had our results back in December 2023. I have the entire genome sequenced for myself, David and our three kids.
The results are confusing and you need to be confident in learning about how to filter and study them if you want to do this type of testing. You can also look into hiring a private genetic counsellor to filter the results and give you a more detailed and understandable answer that links to the symptoms experienced.
TIP: The NHS will ignore any private genetic tests but it is worth it for your own peace of mind or for pursuing more specialised support for your child.
Private autism assessments
The final thing I want to discuss is private autism assessments, because this is the final string of hope after we try everything above to pursue an NHS diagnosis.
TIP: In England, patients have the ‘right to choose’ which means that you can tell the GP you do not want to wait for an NHS assessment and ask to be referred to a private provider who they have vetted and deemed capable of doing autism assessments on their behalf. The NHS pays for the assessment for you.
In Scotland, we do not have the ‘right to choose’ and unfortunately that means that any private assessment will cost us money and could be disregarded by the NHS. There are some steps we can take to try to choose a company that the NHS will favour:
- Investigate who the NHS in England use as right to choose partners, if NHS England trusts them, you have more of a case for NHS Scotland to accept their diagnosis
- Make sure any assessment follows the SIGN/NICE guidelines
- You can check if the practitioners are registered anywhere as qualified and fit to do the assessments they are offering
- Check medical credentials and qualifications of the people who will be present at the assessment
TIP: The NHS will almost always refuse a private ADHD diagnosis because ADHD can be medicated with controlled medication so they want to do their own assessments.
Both the NHS and local authority can refuse to take a private assessment into account. The local authority should listen, as they have no basis for refusing a diagnosis wherever it comes from. Be prepared to fight because if they are resistant and have ignored your concerns thus far, they will likely refuse to accept a private diagnosis and provide the support and adjustments your child deserves.
This is a LOT of information – I know. But I wanted to make you aware of all of the ways you can fight and evidence the need for an autism assessment for your child. I hope it helps!