Childhood Apraxia of Speech explained

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Childhood Apraxia of Speech (CAS) is a rare neurodevelopmental condition that can make it impossible for a child to say what they’re thinking and equally difficult for parents to understand them

Affecting around just 0.15 per cent of the population, Childhood Apraxia of Speech (CAS) is an uncommon neurodevelopmental condition that can be diagnosed with the help of genetic testing so children have the best chance of learning how to communicate 

What is Childhood Apraxia of Speech (CAS)?

“CAS is a rare speech disorder occurring in around one to two children per thousand,” says Professor Angela Morgan, group leader of speech and language at Murdoch Children’s Research Institute. “It’s quite different to other speech disorders due to the severity of the condition.”

According to The Royal Children’s Hospital Melbourne, “CAS affects the ability of a child to produce speech.” It doesn’t improve naturally with age and without help, children won’t be able to make themselves understood which has lasting implications for their development and education.

“Children know the word they want to say, but they have great difficulty in organising all of the sounds, accurately sequencing them together and also having the accurate pattern of speech as well,” Professor Morgan says. “If mum and dad, grandparents and other family members are really not understanding the child then that can be a red flag they have quite a severe speech disorder that needs structured therapy.” 

Does my child have Childhood Apraxia of Speech (CAS)?

As well as children not being able to pronounce the word they want to say, Professor Morgan says flat, robotic speech and inconsistency of speech are other features of CAS.

Another feature of CAS is inconsistency of speech. For example, if a child was asked to say the same word three times, the repeated productions of the word may be quite different and not said the same way, which can be quite surprising. 

What causes Childhood Apraxia of Speech (CAS)?

“Apraxia is a neurodevelopmental condition – the brain regions that support speech and language development have grown differently so they’re not allowing the child to easily learn speech and language,” Professor Morgan explains, adding there’s now a known genetic link.

“One in three children have a genetic cause for neurodevelopmental apraxia. It doesn’t mean that the other two-thirds of children don’t have a genetic cause, it just means at the moment we’re only able to pick it up in about one in three children. Even when the cases are genetic, it’s often not inherited from mom or dad. That’s called a de novo gene change, which just means there’s been a spontaneous gene change that’s occurred in the child sometime around birth. Nothing could have been done to avoid that change. It’s just something that spontaneously happened in the child’s body.”

How is Childhood Apraxia of Speech (CAS) treated?

Once diagnosed, children require treatment with a speech pathologist who can help them to learn to make the correct speech patterns. According to The Royal Children’s Hospital Melbourne, “as CAS is a motor speech disorder affecting planning and programming of speech movements, it is important that treatment also focuses upon improving motor control and motor patterns”. 

Additionally, some children with CAS will need to learn sign language and/or use digital communication aids.

“Use of communication devices can be really helpful if a child does find it hard to generate and quickly say particular words,” Professor Morgan says. “And the other really important part of communication is gesture or sign language. Children can often develop a good sign based system earlier than they’re able to produce speech sounds so siblings and family members can learn sign language or learn to use the communication aid alongside the children to really help support that part of their speech development.” 

How does Childhood Apraxia of Speech (CAS) differ to other childhood speech difficulties?

“It is quite different because those other speech sounds conditions, things like lisps, are very common in the general population” Professor Morgan says. “About five per cent of young children have what we call articulation or phonological speech disorders where they may have a little bit of a distorted ‘s’ sound or swap around speech patterns, saying ‘w’ for ‘r’ in rabbit or ‘free’ for ‘three’ and ‘s’ for ‘th’ sounds. These are really typical patterns that many children experience, but they tend to grow out of them around four or five years of age.” 

What makes CAS so different is that even with a lisp or rearranging sounds, parents are usually able to understand what their child is saying: “A really big red flag for apraxia is where children are just not able to be understood even by their parents,” Professor Morgan says.

How can parents find out if their child has Childhood Apraxia of Speech (CAS)?

With babies making babbling sounds as early as three to six months and words from about 12 months, the age children begin speaking varies enormously, making it difficult to diagnose speech disorders until children are slightly older. 

“Often we diagnose apraxia of speech around three years of age because until then, there’s a really wide variability of speech and language development,” Professor Morgan says. “But when we see children who are about three and their parents and other family members really have trouble understanding them, well, that’s a red flag for apraxia.”

The usual path to diagnosis starts at the GP and along with a referral to a speech pathologist, may also include seeing a neurologist to exclude other conditions that can affect speech development including epilepsy.

How can my child have genetic testing for Childhood Apraxia of Speech (CAS)?

“At the moment it’s a bit tricky because Medicare doesn’t necessarily fund genetic testing for children with speech apraxia,” Professor Morgan says. “They will only fund genetic testing if the child has other significant difficulties like learning difficulties, global developmental delay or significant autism.”

Instead, parents can ask their GP about whether they might be able to access testing through a CAS research program.

“There are some of those available in Australia at the moment,” Professor Morgan says. “At The Royal Children’s Hospital Melbourne we’re able to take referrals nationally and we have funding to run the clinic til about mid-2024.

“For families who may have a gene identified that’s been affected and has caused the speech disorder, we have a clinical geneticist, a speech pathologist and a psychologist at our clinic as well as a genetic counsellor. We are quite hopeful that we’ll be able to obtain ongoing funding because families have found that coordinated clinical care to be so useful.”

What happens if my child has a genetic diagnosis of Childhood Apraxia of Speech (CAS)?

“It can really help families in advocating for National Disability Insurance Scheme (NDIS) or other sources of funding,” Professor Morgan says. “It shows that this is going to be a chronic condition that will need a lot of support.” 

Other benefits of diagnosis include community support for your child and the rest of the family, too.

“Having a genetic diagnosis can unlock the support of other families who have children with that same diagnosis,” Professor Morgan says. “And that can be really a wonderful support to meet others who have a child experiencing the same features or symptoms, difficulties, strengths. Families report that’s really a helpful part of their journey for understanding the condition better from other families too and starting to move forward in planning better therapies.” 

When should parents consider genetic testing for Childhood Apraxia of Speech (CAS)?

“Around three years of age is a good time,” Professor Morgan says. “But because children’s speech and language development is very variable, sometimes parents might like to seek help earlier. If children really aren’t developing first words by 18 months to two years, they might like to seek some support.”

How does Childhood Apraxia of Speech (CAS) affect emotional development in children?

An inability to make themselves understood can be deeply upsetting for children and their parents.

“It can have a really challenging impact,” Professor Morgan says, adding that problems increase with age as children become more independent. “As children start to get a little bit older, say about four or five years of age, you start to see behavioural difficulties because the children get very frustrated that they’re not able to be understood. They might be acting out a little bit and becoming quite frustrated.”

Frustration combined with not being able to make themselves understood can make it difficult for children to connect with others too.

“They might act out with peers at childcare, kindergarten or school,” Professor Morgan says. “Ultimately until we can get the child getting more communication success, you do see that frustration and sadness. Difficulties making peer relationships have social impacts, as well.” 

What happens if childhood apraxia of speech is undiagnosed and untreated? 

“We know that children who have apraxia of speech are at risk for other language and literacy problems,” Professor Morgan says.

Being able to express thoughts, feelings and ideas is essential to a child’s development and the implications of not meeting milestones can have lasting implications.

“If you haven’t had had a really great early start with understanding sounds and use of sounds, we know that you’re at risk for literacy and reading disorders,” Professor Morgan says. “So it is important to get that help before school age so that children can be supported in speech therapy or in other ways to learn more about sounds and language so that when they do get to school, even in the presence of apraxia, we’ve been working on those other skills to make sure they don’t fall behind in other areas as well.” 

As with all conditions that can affect a child’s ability to participate at school, Professor Morgan says early diagnosis can make a world of difference: “It’s good to get a very clear diagnosis early because the sooner you understand the basis of the speech problem, the better targeted therapies a speech pathologist can apply and therapy will be more efficient.” 

How can parents, grandparents and siblings support a child with Childhood Apraxia of Speech (CAS)?

“It’s really tempting sometimes to talk for our siblings or children when they’re having difficulty,” Professor Morgan says. “But it can be really good to just make sure children have strategies where they can have a voice and they can be encouraged to communicate.”

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