Portia Thorman: Hello everyone and welcome to this webinar. Today we’re gonna be talking about some research that’s going on into the development of cognition and communication skills in SMA. Now, I know this is a topic that really interests a lot of members of the SMA community. So I’d like to… Our guests to introduce themselves. I’m sure that we all know our first guest well, Giovanni, would you like to introduce yourself? 

 

Giovanni Baranello: Yeah. Hi everyone. Thank you, Portia. My name is Giovanni Baranello, and I’m a pediatric neurologist by training, and professor of neuromuscular diseases at UCL Great Ormond Street Hospital. And I am developing interest in looking at these aspects of communication and cognition development along with our speech therapies colleagues. 

 

Portia Thorman: And over to you, Alison. 

 

Alison Felton: Hi, everybody. I am Alison Felton, I’m a speech and language therapist, and I work at Alder Hey Children’s Hospital. And I am the lead for neuro muscle and speech therapy there. Yeah, I treat children clinically and I have some academic time as well at the moment. So that’s all, all good. [laughter]? 

 

Portia Thorman: You’re a busy lady, I’m sure. 

 

Alison Felton: Yeah, busy. [laughter] 

 

Portia Thorman: Thank you so much for joining us. I didn’t actually introduce myself, I’m Portia Thorman, Advocacy Lead at SMA UK, and I’m also mom of a little boy who… And nearly seven now, who lives with SMA Type 1. Now, Giovanni, I really remember when we got our diagnosis, one of the first questions I asked our neurologist is, will he be cognitively able? Will he be able to speak to us? Will he be able to access mainstream school? And we were reassured that, yes, that… And I remember her saying, Pete, children with SMA seem to be very bright, sometimes usually more bright than average. So, what is the evidence now that’s coming about? Is this still the case? If you could… Yeah. Tell us a little bit more about what you’re finding out. That’d be really great. 

 

Giovanni Baranello: Thank you, Portia. This really gives me the… Paved way to my… To share my… A few slides that I had prepared, and just to set up the scene of our discussion today. And these are the key points because, as you were rightly saying, even during our medical training, we have been trained with the concept that essentially SMA does not affect cognition, and actually it’s really the daily experience that some of the individuals, the adult with SMA also, have independent life, they even play important roles in the day-to-day activities, and also there are some studies that had been conducted in the early ages, comparing, for example, the SMA population with other neuromuscular conditions like Duchenne Muscular Dystrophy where the brain involvement, the cognitive delay, or other behavioral aspects were much more common. 

 

But now we know that much less is somehow known about how cognition develop, how social interaction, how communication, how language develop in the SMA1 treated population that is now surviving longer, and we have the possibility to interact with them, to… Also to assess them, to look after them, and to see if there is any sign that somehow deflects from the… What we would expect from our typically developing child. So these are all somehow points that we want to, really to somehow reassure you about today, but also to discuss and to give you some, possibly some tips on what to look at here today with Alison. Just to show you, a few years ago, just anticipating somehow the fact that in a few years time, there will be a bunch of children that will be growing and going to school and having nearly the normal daily day-to-day life. 

 

We performed this analysis of the… What had been published until this, this is dated, until December 2019, and the paper has been, I think it’s been published 2021, looking at what was the published evidence regarding brain involvement, language development, cognition development, in, of course, untreated SMA1 patients. And actually we realized that there was very little, of course, the main reason was that these patients did not use to survive in the past, and it was impossible to evaluate them properly, also because they were fast deteriorating, and they were very sick and very weak. So when they were at that testing age, and it was very difficult, so there was very little, but if we look, for example, at one of these papers, this is a study that essentially looked at 96 patients, 18 of them were SMA1, but if you look at the notes and the description basically, these were the strongest Type 1 we can define type, that they were all Type-1C because they were longer survivor with laser onset of the disease. And when they were compared with the non-affected siblings, and also with healthy control, essentially, they didn’t find any difference. 

 

So their cognitive development, their intelligence was similar to their siblings and their healthy control, but potentially there were even some aspects in which they were even smarter because all aspects that were so-called mediated by experience or by the interaction with the environment, in all these aspects, they were smarter. And when they were teenagers, they were performing even better because probably they, how those authors were saying is that probably they had developed some adaptation. So they were performing, they were adapting to the situation. And they were even better in some situations when they, had grown up, compared to their siblings or their healthy control. 

 

And then we did another study also with my colleagues in Italy, specifically looking at a cohort of 22 kids with SMA1. As you see here, there is a good representation of both the more, severe ones, type-1A and type-1B and type-1C aged between three and 11 years that, should have been able to communicate with a yes or a no, so that they could somehow, undertake, this assessment. And, this were some tests that, measure essentially, cognitive development. There was a test that is this ALS severity score that is developed, for ALS that looks specifically at the, articulation of speech and how comprehensible or understandable this is. 

 

Then there was a test looking more at the ability to, comprehend the spoken language. And, overall we found that the general intelligence as assessed by this test and the comprehension of the language was within a normal range. What was mostly affected was the articulation and the intelligibility of speech. And this was strictly related, of course, to the severity of the global motor impairment. But that is, an important point because we adapted those tests, to make them, accessible to patients with, a severe motor disability. Because, this is another bias, that I will explain in a few minutes. The available tests are not specifically designed for patients with SMA or for patients with a higher level of motor disability. 

 

And now of course, specifically for the type-1, we are seeing that these patients are, have been treated, they are developing novel phenotypes. There is a lot of, discussion about how they differ from the natural history. And although somehow the new classifications between, non-sitter, sitter, walker may somehow help, we know that a type-1, treated child who is able to see it will not be a type-2 untreated child. They present with an a range of different comorbidities of different problems. So although the classification somehow, help, but, we cannot simplify because each child is different and we have their own, needs and they will require this particular adaptation and so on. 

 

And we all know, if, the treatments matter, if the type of treatment received matter, we still don’t know if time matters. We know that time is motor neurons. So we are advocating for newborn screening in the UK, and we have seen that if we start treating the patients when they are pre-symptomatically from the motor perspective, they may develop even similar to a typically developing child. Now, we don’t know if this will also impact their overall cognition, their overall, speech and communication development, and also the fact that they are becoming stronger. They are becoming more, capable of doing things. 

 

They are more engaged in the usual activities. They go to the nursery, they are participating through the, day-to-day life. Is this giving, different experience a different, moratorium of things that we can build on? You know? And so this is the question is the nature. So is this something that we notice missing, like the SMN protein that is important for motor neurons or is the lack of experience and opportunities that somehow shapes the way in which they behave or they develop? 

 

And I like this, example, it’s like when you do this testing or you use, testing that are not validated for that specific level of disabilities, like that, you ask the fish to climb the tree, of course, they will feel, stupid because you’re asking something that is not adapted to their own ability. And this is what we found in that paper that I just presented. If we adapt also the testing and the way in which we look at the children, possibly we are able also to capture other strength is very important to look at the environment, the social context, where the child is growing, because these are all resources that we can build on to further develop and to further promote their global development. So that… 

 

This is my final slide showing that we can change from a vicious cycle of reduced experience, reduced stimuli, reduced participation, to a virtuous cycle where we can give opportunities. These children are improving in the way in which they articulate language, in which they manipulate objects, in which they make new motors, milestone achievement. And of course, this needs to be in a synergistic way, combined with all the possible experience and the work that our colleagues in the community are doing with the family, the environment, with school and so on. And I will stop sharing now. 

 

Portia Thorman: So lots of work to be done really and lots of unknowns. So we don’t know if it’s the environment where they’ve been brought up, whether it’s a lack of SMN protein, maybe that affects them. The testing methods possibly aren’t fair. There’s still lots to be done by the sounds of it. 

 

Giovanni Baranello: Yeah, definitely. It’s a moving target, but it’s important, I think, to raise the awareness in the community because the families are very quick at communicating each other, and we see, if there are concerns, and we need to provide clear answers in order to have a sort of proactive approach and say, we are looking at this, but there are some things that you can already start doing by looking at simple things, in your child. 

 

Portia Thorman: Yeah. And over to you Alison, so you’re a speech language therapist working in Alder Hey Hospital. I’m sure you have lots of information to share with our community. 

 

Alison Felton: Yeah, absolutely. And I will share some slides, which you should be able to see. Can you see those Portia? 

 

Portia Thorman: Yeah, I’m good. 

 

Alison Felton: Perfect. Okay. So, like I said, I’m a speech and language therapist. I work at Alder Hey Children’s Hospital, and I’m the lead for neuro muscle up here and amongst other things. And I’m doing a bit of academic work at the moment as well. And my special interest is SMA1, so hopefully I’ve learned something over the last couple of years while I’ve been doing this, but time will tell, won’t it. So okay. So now, there we go. Perfect. 

 

You moved it out. Should move out the way there. Okay, perfect. So what I’ve got here is a bit of a slide and I think sometimes if you are reading something on speech and language, it can always, it can seem like a little bit overwhelming. So I’m hoping that some of this stuff will help you while you’re reading about things and talking about things kind of come to a bit of an understanding and just get familiar with some of the words that I used about now as speech therapist we try really hard not to use jargon. We spend lots of years learning lots of jargon and then unlearning it so that we can communicate with people ironically, but this is kind of, I’ve done it this way. And this is sort of based on something from the speech and language UK used to be called I CAN. 

 

And they’ve got some lovely resources there, and I think SMA UK are gonna be putting some resources attached to this webinar. So you can have a little look at that. So speech sounds, so if you think about speech sounds, this first column here, so that’s made of things like the muscles you need to make sounds. Okay. So how do the muscles work? Sometimes you hear the word dysarthria used and that basically is a type of speech which results from often a weakness in muscles and the muscles not being able to kind of get where they need to go, or they get very tired and that’s also linked to bulbar function. 

 

I know everyone says bulbar function is a hot topic. And I think sometimes you think, oh, actually it’s bulbar function, what does that mean? And so it talks about the muscles we use to make sounds. Okay, the messages to the brain to make speech sounds. So that’s sometimes called dyspraxia or apraxia, which is more familiar these days and learning to use sounds to make words. So putting sounds in the right order and how that pattern works in the language that you are being raised in, whatever language that is. If you’re English or non-English, the sounds that you use will have a pattern. And that’s sometimes called phonology. Okay. So how those sounds kind of are put in the right order. Okay. Next column is understanding others. So actually comprehension sometimes that’s referred to and involves listening in attention, your auditory skills, words and concepts. So concepts can kind of be non-verbal, but actually what does that mean? And can you attach a word to it, or can you understand the word that’s attached to that concept? 

 

Understanding sentences and memory. Okay. Memory is important. I’m not very good at it these days, but that’s something that we do need in order to remember what someone’s told us in the past. Okay reducing language, obviously vocabulary, forming sentences, organizing our sentences into something sort of coherent. So, and again, memory comes into that. What I already said, what’s going to be said? And remembering where you’re up to, really? Which does happen sometimes we’ll have a bit forget what we’re talking about. But in terms of our creating language memory is really important and using language appropriately. 

 

So pragmatic sometimes that’s referred to, and that comes down to sort of, well, there’s rules of… There’s rules isn’t there, in terms of conversation it’s very difficult. We don’t really know, a lot of the time we don’t acknowledge why these rules are there, but they’re sometimes there aren’t they? When they’re always there. So the fact that I might come up to say Portia and say, hi Portia, how are you doing? And she’d say, fine, thanks Alison. And that would be it. Now we don’t really know if Portia is fine. 

 

But that’s a little sort of, oh God, I add a little couple of phrases that people say to each other all the time and it’s just a kind of, I don’t know… How are you, I’m just checking in with you. I’m just sort of being polite. I’m acknowledging you are there kind of stuff. It kind of acknowledges a lot… I suppose when we say that we wouldn’t necessarily be saying and how are you and expecting to hear somebody’s deepest, darkest secrets necessarily. But there’s those little pairs of things and there’s just a little rule of conversation that that’s what you do. Generally speaking, if you ask a question, most of the time someone’s waiting for a response if it’s not rhetorical. So there’s lots of little rules there. And that’s… And along with your nonverbal skills that kind of, we have these little rules and they vary sometimes culturally. Things like eye contact will vary and what’s appropriate, nodding or shaking your head will vary culturally. 

 

But it can be quite confusing if someone does the opposite of what you think [laughter] Okay. So as a speech therapist what we generally look at is all these areas, now we’re doing an assessment. And what I’m sort of interested in, and particularly in SMA1 is, well, is one of those things worse or lower than the others? And it could be any of those. So you could be really, really good at understanding language and what’s said to you. You could really, really understand that very well. But your speech sounds might be really poor. Okay? So you can have really poor speech sounds just on their own. And so, I’m particularly that’s particularly difficult if you’re trying to use a lot of language and sentences, and you had a language burst and you’ve got a lot to say. Little children have a lot to say, but if your speech sounds aren’t very clear, then, that that makes that quite difficult for the person that’s trying to understand them. Alternatively, yes… 

 

Portia Thorman: Sorry, the one that is affected by muscles in your face. 

 

Alison Felton: Yeah, by muscles or it’s that first column. So actually if there was an naproxen element, or actually if it was the sound patterning phonology could make speech really quite un-intangible, but you’re trying really hard to know what you’re gonna say, but it’s just not very clear. 

 

Portia Thorman: It’s not being the right thing. Yeah? 

 

Alison Felton: Yeah. It’s just not kind of getting there. Alternatively, that first column might be great. What you might say might be absolutely crystal clear and great, but you just not, might not say very much of it. So you might have great speech sounds, understand what everyone’s saying to you, but only have a couple of words there for some reason, or they all might be grand except your appropriacy of language. So you might be a right old chatterbox, but you just don’t know when to not talk or when to talk or when to interrupt and not interrupt things about being rude and politeness, which is hugely complicated. 

 

And what I’d be looking at as a speech therapist is are these all the same developmentally or is one or two of them particularly out of kilter with the others? And if you go for a speech and language assessment, that’s what speech therapists should be looking for. They’re very… And I think it’s particularly important when we’re looking at targeted therapy. Lots of children don’t have a lot of language, but you wouldn’t necessarily target very specifically their oral motor skills only if that was a particular problem for them. So if you go for individual assessment, that’s what we’d be looking for. Are they all at the same level or is one out of kilter with the others? And I think particularly when you get to school age, again, the educational psychologist will help with that in assessing, excuse me, whether that’s in line with their general level of learning or no. 

 

So there is a signs and symptoms checker in part of the resources that we’ve put on the webinar. So you can have another look at that if that’s gonna be helpful to you. And I’m hoping that this has just given a bit of an idea of some of the things that we kind of look for and some things to think about. Obviously this is on the webinar, so you can come back to that slide if you want, but also speech and language UK have got more detail on this and you can kind of have a good old look and think about your own child in their own particular way, [laughter] doing what they particularly want. Okay. So if we skip on, come on. Yay. Okay, fine. So when we’ve kind of looked at some of the studies, I think Giovanni is kind of covered some of this. When we are looking particularly at Bulbar. 

 

So that’s the muscles and general communication outcomes. They’re really not very specific. A lot of these studies and they’re often looking at something completely different. So they might be looking at can children walk or not. And then sometimes we call them a secondary endpoint, which means it’s… Well it’s the second thing they’re looking at, but it might not even be a secondary endpoint. It might be just a tag on the end, oh, when they were talking or, oh they weren’t talking and it’s a really kind of common thing. I think the number, we’ve not found many, we’ve done sort of quite a systematic review over the last, well since 2010 and really you’re looking at between 10 and 15 papers with any mention of communication skills in this group. So, which is absolutely nothing if you think about all the research that’s perhaps I know goes on in other kind of types of disorders that over that period of time is very small, particularly with the new treatments that are coming out. You’d like to think [laughter], maybe I’m just nerdy ’cause I like the speech and language side of it, [laughter], but I think there’s a kind of more, very much more on walking and motor movement than there is about communication. 

 

So, yeah, so that’s a bit of an issue and in a lot of the studies as well, when we do a review, we actually, ’cause there’s different ways of grading studies and we call that a quality indicator. So, it’s a strong, so high quality, medium, low quality, normally three rankings and there’s lots of different tools that researchers use to kind of look at that and grade the quality of the paper. A lot of the papers actually don’t come into high quality papers at all, those ones. So, they’re sort of moderate to low, and although it’s quite problematic because it might be a really, really good study. So, it might actually be a high quality study, but just the bit about speech and language and bulbar function isn’t very, isn’t very high quality, that’s tagged on to the end. So, a few of them, just as an example, they use the measurement of a four-year-old, can say a single word and that would be a pass on that kind of for them. Now, obviously, four-year-olds normally, so unless you’re thinking about school entry, four-year-olds should be able to say a single word. 

 

So, that’s not a great measure really. Another measure was, could the child use two separate vowel sounds? And again, very little babies can use two separate vowel sounds. 

 

So, these measures are quite problematic and I think Giovanni has talked about some of the measures that they looked at, and which is grand. And actually, yeah, they need to be appropriate to the group really, and not borrowing adult assessments for very young children, and which is really not very helpful either. I think… Sorry? 

 

Portia Thorman: Lots of work to be done. 

 

Alison Felton: Loads, absolutely. I’m looking at about 50 years of research. 

 

Portia Thorman: Wow. 

 

Alison Felton: As Giovanni said, it’s a moving target as well, which makes it hard ’cause things are changing so rapidly. I think we have some evidence that there’s a strength in receptive language over expressive language. That would be a relative strength. And I think, as Giovanni was saying, is it reduced experience? Is it part of the actual condition itself? We’ve known for many, many years in cerebral palsy that reduced life experience will reduce your communication, and lots of different kind of, and it stands to reason in itself that actually, if you’re not exposed to speech and language and communication, you can have a reduction in that. 

 

So, actually, if you’ve not had a great experience or you’ve been in hospital for a long time, not had the same experiences as other children, and plus we’ve got COVID as well at the moment, so that’s not helpful. A lot of our COVID babies haven’t quite had the same experience they would have had otherwise. They have talked about Dysarthria, which is that weakness, so that kind of, it’s almost slurred speech. That’s not a surprise, I don’t think, in terms of this group, so that is, has been noted. Also, jaw opening, sometimes that’s called Trismus, which is another word which people have started to use. Now, that comes up across other groups, so SMA3s, SMA2s, I think particularly going into adulthood, obviously because the children with SMA1 are still very young, we haven’t really got any evidence on that at all at the moment. 

 

So, we don’t even, we don’t know the pathophysiology, which means, like, why would you have jaw opening issues? I don’t think we’ve really established that in itself. So, if we don’t even know why it happens, we don’t know what to do about it. I think there are a number of things being used with older children, and not very evidence based, but, people are just trying them to see, to see if they work. So, to try and kind of stretch the muscles around the temporomandibular joint, which is the little joint that waggles in front of your ear that makes your jaw go up and down and side to side. So, that’s something that you might read about if you start looking at SMA, jaw opening might be something that’s caused, sort of mentioned, really, just to be aware of, but again, not massively. Yeah, there’s not a lot of evidence around that at the moment. And again, it’s something else we need to look into. 

 

It’s another 10 years of research. So, I think one of the things I did want to talk about, again, is just independence, frustration, quality of life, and again, getting on to alternative and augmentative communication that will promote quality of life and independence. I think we might be talking about that a little bit later as well, but it’s often called AAC, and that’s using an alternative device or process. So, for example, signing or could be using an electronic device, eye gaze device, using switches to communicate, and we use all sorts. 

 

We’ve got talking photograph albums, but you press a button and it says what’s on the photograph, point boards, picture exchange. There’s all sorts that can be used to support speech and language. And again, at the end, attached to the webinar, there is a resource link there for anyone who wants to go and have a look at other ways of talking. I think in terms of the research, what’s interesting is obviously some of those devices are quite expensive to use if we go for those. And it’s actually really hard to research what the barriers are because in different countries, they’re paid for in different ways. And so obviously in America, their funding system for any kind of medical device, as they would be called, would be entirely different to how that was done in the UK. 

 

And so in terms of looking across countries, that’s a bit problematic. But generally speaking, we use a variety of ways. We would use speech and we’d use gesture, we’d use signs, symbols, whatever the child is able to use on an individual basis. We would maximise that really. 

 

Okay, so in practice and what I’m seeing at the moment is a huge variance I have to say in my caseload. Again, depending on the age of treatments and the presentation, so how the child was before they were treated, as well, can influence sort of what’s going on with them at a later stage really. So I have some children that talk really quite well and quite intelligibly. And then I have others who really find that quite a challenge and need quite a lot of support. And why particularly those children, I have to say we don’t know. I think we kind of, assuming earlier treatment is better, we’re assuming that, that that’s kind of gonna be better, but obviously need to look into that more. 

 

And again, I think the other thing to sort of mention is it’s not necessarily linked to swallowing. ‘Cause I’m a speech and language therapist, I have to try really hard not to talk about swallowing and only to talk about communication ’cause that’s like my main sort of thing. So, I think sometimes we have children that communication skills and their swallowing skills are quite different from each other. So just ’cause you have a deficit in one doesn’t mean you’ll necessarily have a deficit in another. And I think it’s just quite important to say that because actually I think if you go to a speech therapist, they potentially will also have their swallowing head on, while they’re assessing your child’s communication. So it’s worth kind of bearing that in mind. So again, we come back to individual assessment, best way forward and see how your child’s doing and get some specific advice tailored to them really. And I think that’s the end of my slides, so I’m gonna stop sharing. 

 

Portia Thorman: Thanks. It’s really great to hear just an explanation of all those words that you come across in a, when you’ve been newly diagnosed or even a little bit further down the road, like Boulder and yeah, it’s really great to have a clear explanation of what all those things mean. And you’re right, ’cause I think that sometimes in SMA you do focus on the motor skills and when you’ve got things like breathing and swallowing, which are so key to staying alive, speech and language… 

 

Portia Thorman: Sometimes you don’t think about until a little bit later on. So from our SMA UK Family Networks, we’ve heard about families that are concern that their children maybe aren’t talking as soon as they would’ve thought they would be. They, like crying all the time. There’s been quite a lot of that. 

 

They’ve noticed that they’re not recognizing their own name when they think they should do and maybe not making eye contact and all these kinds of things are really worrying some families. Alison, I mean we all know that any child develops at different rates. And I think when you have a child with, special needs, you are hyper aware of things. So what sort of side do you think that families should be looking for? For example, what ages should families expect their children to start talking maybe? And if they are concerned about anything, what should they be doing? 

 

Alison Felton: Okay, that’s a really good question. [laughter] It’s good, it’s cool from the community. So it’s gonna be a good question, isn’t it really [laughter] So yeah, I think that’s important to notice that all children do develop slightly differently at different rates. And so, and I think particularly if you’re anxious and looking for things that can kind of almost put you on a bit of hyper alert to kind of different things. And obviously if you have a child that you know is gonna have special needs that there’s, you can assume that you’re gonna be anxious about that to some degree. So initially the thing and I think for me, people sort of talk about like a child that talks a child that doesn’t. And actually for, as a speech therapist point of view, before speech happens, there’s an awful lot that goes on before talking, which is really important. 

 

So all those communication skills that I think we probably take for granted and don’t really look at in a kind of, not a very serious way or we just kind of assumed that we can all do it ’cause we just learned how to do it. So things like making eye contact and nonverbal stuff, sharing attention and things like pointing actually is quite important. So is your child pointing towards something? Now, it may be that actually they’re not, they don’t have the upper limb movement ability to do that. So they might not be pointing, but the intention should be there. So I’d say sort of if your child sort of looking towards something and maybe sort of just, it might be a whole hand point, it might be a reach towards something, it there may be an articulation with that. 

 

There may not, and looking at you, that actually is a sign that communication is developing. So they’re drawing your attention to something and you’re sharing your attention on a particular item. And particularly the way to kind of look at that really as you follow what they’re looking at, rather than, we always try and get the children to do what we want, don’t we, [laughter] look at the thing we want to talk about and actually really we should see what they’re interested, what are they looking at? And what are they telling us? Is sort of quite important really. And if we go into sort of norms and things like that, there’s lots of lovely kind of, things like progress checkers and things like that, which I know we’re gonna be attaching to this webinar, from speech and language UK And they have a lovely like, progress checker. 

 

So if you are worried about your child’s communication skills, you can go on that progress checker and have a look and kind of see some, there’s ideas on there as well. They’re not specific to SMA type one, they are generic, however, they’re still quite robust. So it’s great to have a little look on there. Generally speaking, I’d say babbling about six to nine months old. We should be seeing some babble that might be varied. Might be not. So it might just be one sound, ma ma ma ma ma ma or changing sounds, which you know is grand. We’ll we’ll take both. 

 

And then they should be coming to be some sort of word in 9-12 months. Now, when we talk about words, these might be words that you understand the parents and very close sort of family members kind of recognize, but it’s not necessarily something that, a stranger would recognize. So they might have a special word for something. So they might say Bobo for bottles, for example, or I don’t know. I’m think I’m trying to, my nephew used to say Gaga for Paddington Bear, and we never really got to the bottom of why he did that. I’m sure he’d be delighted to know now that he’s nearly 30. I’m talking about him on a webinar. But so why Paddington became Gaga and he used that really regularly, really consistently for that item. 

 

Not everyone’s gonna know what that word is, but as long as parents are recognizing, “Oh yeah, that noise is a specific thing,” and you should then start single words until nine, 12 to 18 months, we should start seeing them. Now there’s a big jump then because children as we know are generally fantastic and just do things sometimes without much help from us, [laughter] but they don’t have like a bit of a spurt. So then if we leap onto two years, we’d be thinking about joining two words together and having a vocabulary of about 50 words. Okay. So that’s quite a big jump from 18 months to two years. If the child is using some alternatives, so if they’re using sign, then they could be joining two signs together. If they’re using speech, then it’ll be two spoken words at that age. 

 

I think one of the things that I kind of really kind of try and emphasize is play because I think it’s one of those really very ordinary things that we do that actually is really quite extraordinary and I think we cannot separate how out play from language and communication just cognitively and developmentally, those two things are so enmeshed in each other that we’re saying play is one thing and communication is another, is actually incredibly difficult to do. So actually play. And those things that you do with your child on a regular basis are really, really super important. And there’s lots of people that can kind of help out with that sort of thing. So for example, your occupational therapist, particularly if your child’s had problems with access and upper limb movement, the occupational health therapist can help you with that. Or if you’re very, very lucky in your area, you’ll have something called Portage. 

 

And Portage is fabulous and I always say to parents, if you are offered Portage, grab it with both hands. It’s something that’s really, really fabulous. And what they do is they kind of assess your child and work on and give you ideas across the board. So not just speech and communication, they do things on motor skills, define motor general developmental stuff, and it’s a really, really good service if it’s in your area. It’s not in everyone’s area. I will admit. It’s one of those things that I think unfortunately comes and goes, but if it’s in your area and you’re offered, I would be like, just give me that [laughter], I would take it. And the usual, your children’s center will have access to things like communication, playgroups, parent groups and things like that, and training for speech and language. 

 

So all those things are going to be relevant. They’re not all necessarily very targeted for SMA one, but they still have a use and a place. And you were talking about, “Oh, I’m trying because that was three questions in one Porsche,” you snuck one in there, didn’t you? [laughter] the other one. You’re talking about what to ask for the local team? I think so if you go to the local team for speech cycle, well what should we be asking for? And I’d be saying very much they should be doing an individualized assessment for your child. Particularly because the research is, the research we’ve got is indicative of potentially, having a discrepancy between different parts of speech and language. We shouldn’t assume that this is all just a general developmental delay. So they should be doing an individual assessment for your child and targeting any input to those needs really. 

 

Is the speech and language coming out at a different level to cognition generally in their general level of learning. And actually as a child gets older and particularly going into school and things like that, the educational psychologist would will be really, really helpful kind of helping pick out those things. And that should be something that going into school age and entering school that, would be really, really helpful to a lot of families. And again, universal services in terms of schooling, a whole language enrichment for the whole environment should be going on and there’s no reason why that shouldn’t be done ’cause that’s benefits all children in the classroom. So, a language rich environment is only gonna benefit, it’s gonna benefit that one child with SMA1, but it’s also gonna benefit everybody else as well. So there’s no reason why that’s not gonna be a good thing for everybody. I think it’ll be hard to argue against that really, that actually we can have a language poor environment, I don’t think anybody would advocate for that really. Yeah, so I think I kind of think that answers your question, I think. 

 

Portia Thorman: Yeah, absolutely. And I’m glad you brought up Portage because it was my little boy where they had Portage, I’d never heard of it before at all. Didn’t really know what I was being offered and because he’d been so very poorly when he was little and I mean we wanted to protect him from germs and going to like mother and toddler groups and things like that weren’t really an option for us. So to have someone come to our house and bring lots of wonderful resources and sing to him and, and play with him and yeah it was really great. And they also wrote up a report when he was old enough to go to nursery in turn term three. That really helps him access mainstream school as well. So it was really useful. 

 

Alison Felton: Fabulous. Yeah, and I think it’s really important actually, if you’re in a prolonged stay in hospital as well. Not to undervalue the stuff that you do with your child, if you are singing and, nursery rhymes and looking at books and playing with pictures and talking about things and showing them different things, that’s actually really important. All that play stuff. So that shouldn’t really be devalued. You don’t need sort of, for a lot of that stuff to go on. You don’t need some swizzy speech therapist, although I’d say we’re all fantastic. So obviously, I’m not gonna downplay [laughter] kind of what we do as a profession, but in terms of parenting, that’s all amazing. That’s the extraordinary stuff that goes on every single day in people’s homes and in, on the wards and stuff so that’s really important. 

 

Portia Thorman: Yeah, yeah. And I am also guilty of an over-reliance on iPads ’cause it’s very easy for a young child who doesn’t have the mobility to run around and entertain themselves. Having an iPad is a really, really accessible, easy way for them to entertain themselves. So I do try, try not by the limit. 

 

Alison Felton: It’s so difficult, isn’t it? ‘Cause it’s so readily available these days. 

 

Portia Thorman: So for families about getting, where their children are getting older, finding strategies to support the communication. There’s lots out there, aren’t there? From Eye Gaze to Makaton to personal communication books. Can either of you suggest anything that has been particularly successful strategies in SMA? 

 

Alison Felton: So I think there’s gonna be one of the resources that’s on the, which is going to be attached to this webinar is something called different ways of talking. And that’s produced by the Communication Trust. It’s a really good little booklet you can get it on. I call it a booklet ’cause I’m old fashioned, but it’s online., it’s an actual electronic resource. And that kind of has got lots of different things in it in terms of the choices for a slightly old child, if you’re looking for alternatives. So we refer to alternative and augmented communication. So for children who are having difficulty speaking, this can be an alternative entirely. Or there can be something that would augment their communication. So sometimes it’s called AAC. You might hear things like that. So generally speaking, I’d advocate to use a number of things at once. So just ’cause you’re using one of those things doesn’t mean that you would discount everything else. 

 

So, just ’cause you use some sort of electronic device or symbols or something like that doesn’t mean that we stop talking. And I know a lot of parents kind of have sort of anxieties about, what if we start using an alternative? Are they not going to talk then? And actually really, not in the SMA group, but largely in the rest of the groups, what we know is actually if you use an alternative, they are more likely to talk verbally than if you don’t. Because they actually accept, they take on all that lovely communication stuff. The quality of life is better and they’re less frustrated. And actually they want to communicate with you. So in the end, they actually talk more, some of those children, obviously within sort of their potential. So you can, so there’s some very swizzy things about, and we do use these sometimes. So we talk about eye gaze devices. So that’s a device that you would use where you would look at a screen and the screen can pick up on your retina. And you can look at the screen and either pictures or letters, find them and you can communicate through the computer. And they’re often seen in adults actually. So, normally I think if you Google that, you’ll often see a lot of adults who’ve lost the ability to talk using those sorts of things. 

 

And you can get very, very excited about using something like that. And I have to kind of almost keep that staff calm about it. It’s gonna be amazing. But actually that’s not necessarily the best for a lot of children. And I think we’ve got to take the child as an individual and in a family, a child isn’t born into just a vacuum, they’re born into a family. So there’s going to be things that are going to be suitable for one family and child that are not going to be suitable for somebody else. I remember talking to one family, talking about, sort of electronic devices that were back then hugely expensive. They’re still not cheap now, but they were hugely expensive. And the mum just said to me, look, that’s just not gonna work for us. It’s one, it’s a big expensive device. And really our boys are so like, big, they’re into sports. They throw him around, they practically use him like a rugby ball. This child was just getting so much kind of stimulation from the other siblings. It’s gonna be broken within, five minutes. And actually what he wants to say, we can figure out from something very, very simple. And that kind of managed him emotionally as well as communication wise. 

 

So you have to kind of take all those things kind of into consideration. Plus also, you can’t take an electronic device into the shower and things like that. Or you can’t if you’re, for example, me turning overnight, which some children do. If you turn them, then you have to sort out the device and get the device in front of them. Or it’s actually just like a board with yes, no, go away is does a lot for a lot of children, actually, and takes over a lot of electronics. I think in terms of other things, you can talk about sign a little bit to support kind of spoken speech and language. I think I would always go for something like general gesture. And I would go for something like that and sort of nursery rhymes and kind of in the very, certainly in the very early days, see what you get. I think it’s quite difficult. I think then if you have a child that doesn’t have a lot of upper limb movement, it’s not necessarily going to be great for them. It wouldn’t necessarily be my first choice. 

 

I’m a big advocate of sign to support speech and language. But if that might not be the correct choice for an individual child, so we kind of have to take that into account, really. So there’s signs, which is what you would use with your hands, whereas a symbol would be a written like a written tile. So and you see these in lots of schools and things. So it’s sort of like a pre literacy thing. Or you could use photographs, drawn pictures, things like that to supplement whatever else is going on. And again, you would continue talking. And I think at the moment, it’s really important to expect change and look for change and not assume that the levels that a child is at at one point is gonna be the same forever. I think, we have to look. Look with expectation is what I say to families. I expect to change. Look for it. And then you can support it if you see it. Whereas if I think if we stop looking, sometimes and we could have a chance of missing things, really. So, yeah, certainly signs, symbols, electronic devices, communication books as picture exchange, if that’s appropriate for the child. There’s a number of things and actually a speech therapist will help you out with that. 

 

Finding out which which is going to be the most appropriate for your child and along with, parents interaction as well, skills and stuff like that. So I think that answers that one. Does it? 

 

Portia Thorman: Yes, it does. Thank you. So it’s just really individual, I guess. 

 

Alison Felton: Yeah, I think it is. Yeah, I think it’s fair enough, really. 

 

Portia Thorman: Yeah. So, I mean at the moment we’re in this sort of Guinea pig generation, if you like, the SMA type one family. So we’ve been, the children have been mainly treated asymptomatically. Some living even with complex knees, some lucky enough to be treated a bit earlier. So living with less complex knees. But we’re really hoping, as you said, Giovanni, that newborn screening is going to come to the UK, as soon as possible. Do you think that that will change what we are seeing, in future? 

 

Giovanni Baranello: Yeah, I think that, definitely yes. We know that the SMN protein is important for different organs and I believe that there might be a role also in the brain development. So the fact that they are exposed to a possible treatment quite soon after birth, will have, positive impact also on their global, development. And we know that, if they develop, somehow normally, in terms of, acquisition of new milestones, ability to interact and speak this in turn will affect, positively their development. So definitely, yes. So I would also, include this as one of the reasons why we should advocate, even strongly for the implementation as quickly as possible of newborn screening programs. Because, if we see that, of course, the children who are treated when they already display some symptoms of the disease of having some delays, or they struggle a little bit even more, it becomes important, to treat early, immediately after diagnosis, immediate immediately after birth actually. So definitely I would say yes, that would be an important achievement. 

 

Portia Thorman: Is there any way of finding out if it’s SMA that’s giving some children these, can I say autistic tendencies? Is that fair? Is there any way of ever figuring that out or we have to wait and see what happens when newborn screening and… 

 

Giovanni Baranello: Yeah. 

 

Portia Thorman: On scientific way would we figure that out. 

 

Giovanni Baranello: I mean there are, some, scientists that are trying to, disentangle if this is right, the case. There is a lot of ongoing discussion about the fact that SMA actually start before birth, and this is why it’s important that, we don’t delay any treatment and we try to understand if the early treatment affect also brain development. There are, scientists looking at the animal model, scientists looking at the other cellular models, that there is all this stuff with, I don’t know if you have heard about organoids, that kind of trying to re-product at the cellular levels of how brain look like or spinal cord look like in the lab. So there is the ongoing work that is trying to look at that, but I think that we will need to wait a little bit to have the answers. 

 

Portia Thorman: That’s always the answer I get. We have to wait. Well thank you. That’s really interesting and it’s good to know that scientists are on it. So we at SMA UK have been thinking about the possibility of setting up a parent support network for families who are struggling to support their child’s cognitive and communication development. Do you think this would be a good idea? And if so, do you think you will be able to support a group like that in any way? 

 

Giovanni Baranello: Alison, do you want to… 

 

 

Alison Felton: Go ahead. That’s fine. I think it’s a really good idea. And I think really, I think I’d be sort of quite keen on SMA UK leading that. And kind of showing that kind of leadership and stuff. Obviously in terms of work and things, we have some sort of governance issues around that, but certainly in terms of kind of me being a resource for that, if you needed any kind of help that then that’s kind of grand. And I think probably I would think we’d need some sort of psychology, input if we’re gonna start looking at cognition, we’d need some psychology input into that as well. I think that would be quite valuable. So, yeah, so potentially yes, it’s a great idea. [laughter] Working out quite how that kind of would work and things is obviously as always is the problem, isn’t it? But yeah, certainly. 

 

Giovanni Baranello: I think that also the work that you are doing, with the new diagnosis and providing, like clear and simple explanations of what you have to expect, we can probably include also, the past of monitoring. When they grow up, what are the things that Alison was mentioning that you should, look at and how you could possibly stimulate, facilitate the progression of their development. That would be also well because well. Is it helpful for the families, especially when they go back to the sources and when they have somehow digested, the new diagnosis and the communication and all the process going through the treatment and so on, they will have more and more questions. So it’s important to provide them with the right answers and where to look at well. 

 

Portia Thorman: Well, yeah, definitely. Absolutely. And maybe that messaging at diagnosis that I got just needs to change a little bit. Just say we don’t really know. 

 

Giovanni Baranello: Yeah. 

 

Portia Thorman: Yeah, [laughter] Well, absolutely. 

 

Alison Felton: Well, fantastic. 

 

Portia Thorman: Well, thank you for joining us. It’s been really, really informative and I’m sure you will have, helped a lot families out there. 

 

Alison Felton: Hopefully. Great. 

 

Portia Thorman: Right. Thanks so much. That’s right. 

 

Giovanni Baranello: Thank you. Thank you.