{"id":2227,"date":"2024-06-11T23:16:57","date_gmt":"2024-06-11T21:16:57","guid":{"rendered":"https:\/\/kleefstrasyndrome.com\/?p=2227"},"modified":"2026-08-21T06:58:00","modified_gmt":"2026-08-21T04:58:00","slug":"kleefstra-speech-language-communication-2024","status":"publish","type":"post","link":"https:\/\/kleefstrasyndrome.com\/en\/kleefstra-speech-language-communication-2024\/","title":{"rendered":"Speech, language and communication in Kleefstra syndrome: what an international study of 103 individuals showed"},"content":{"rendered":"
\n

Speech delay is one of the features most frequently reported in Kleefstra syndrome. For many years, however, scientific descriptions were limited to general statements such as \u00absevere speech delay,\u00bb \u00ablimited speech,\u00bb or \u00abnon-verbal communication.\u00bb This left important questions unanswered for families and therapists: Is the difficulty primarily in language or in the production of sounds itself? Do children understand more than they can say? How common is speech apraxia? When should Augmentative and Alternative Communication be introduced? And does the use of an AAC system hinder a child from developing spoken language?;<\/p>\n\n\n\n

A large international study published in 2024 in Journal of Medical Genetics<\/em> try to answer these questions systematically. The work of Lottie D. Morison, Angela T. Morgan, Tjitske Kleefstra and colleagues<\/strong> assess speech, language, non-verbal communication, and cognitive function 103 individuals with molecularly confirmed Kleefstra syndrome<\/strong>.<\/p>\n\n\n\n

And one of its most important conclusions can be summarized in a single sentence:<\/p>\n\n\n\n

A person having difficulty speaking does not necessarily mean they do not understand or that they do not have things to communicate.<\/strong><\/p>\n\n\n\n

An international team of 103 people with Kleefstra<\/h2>\n\n\n\n

The study involved 103 people from 26 countries<\/strong>, aged from about 19 months to 43.5 years, with a median age of 9.5 years. 40 were male. From a genetic perspective, 52 had a deletion of the 9q34.3 region, 50 had an intragenic pathogenic variant of EHMT1<\/em> and one person had a balanced chromosomal translocation that disrupted the EHMT1<\/em>.<\/p>\n\n\n\n

This is important because the researchers did not study just one very specific genetic subtype. They included individuals with different molecular mechanisms and with very different ages and levels of functionality.<\/p>\n\n\n\n

Standardized tools for language, cognitive and adaptive function, social communication, and speech production were used for the assessment, while information on the use of Augmentative and Alternative Communication was also collected \u2014 Augmentative and Alternative Communication, AAC<\/strong>.<\/p>\n\n\n\n

The cognitive picture is much more diverse than previously thought<\/h2>\n\n\n\n

Of the 79 individuals for whom cognitive assessment was available, 67 had some degree of intellectual disability. However, the severity varied significantly: 16 individuals had mild, 38 moderate, and 12 severe intellectual disability, while in one individual the degree had not been determined.<\/p>\n\n\n\n

The striking finding was that 12 of the 79 individuals, or approximately 15%, had cognitive function in the average range<\/strong>, although five of them reported borderline cognitive function. One of the study participants had even completed postgraduate university studies, while another was attending a general school at the expected level for his age.<\/p>\n\n\n\n

This finding reinforces what more recent genetic studies also show: the KLEFS1 spectrum is much broader than the older picture of a syndrome associated almost exclusively with moderate or severe intellectual disability<\/strong>.<\/p>\n\n\n\n

However, an even more interesting element appears here.<\/p>\n\n\n\n

Speech and language are not the same thing<\/h2>\n\n\n\n

In everyday life, we often use the words \u00abspeech,\u00bb \u00ablanguage,\u00bb and \u00abtongue\u00bb as if they mean the same thing. Clinically, however, they are not the same.<\/p>\n\n\n\n

\u0397 language<\/strong> it concerns, among other things, whether a person understands words and sentences and can form and convey meanings.<\/p>\n\n\n\n

\u0397 speech<\/strong> it concerns the physical production of these words: the planning and coordination of movements of the mouth, tongue, jaw, and breathing, the articulation of sounds, voice, rhythm, and prosody.<\/p>\n\n\n\n

And the study by Morison and colleagues showed that this distinction is particularly important in Kleefstra<\/strong>.<\/p>\n\n\n\n

Of the individuals who could be evaluated for speech and used oral communication, 48 out of 49 \u2014 98% \u2014 had a speech disorder<\/strong>. Even more interesting is that such impairments were also present in certain individuals whose language and cognitive function were at a much better level.<\/p>\n\n\n\n

In other words, a person can he knows what he wants to say and understands much more than his spoken speech allows him to express<\/strong>.<\/p>\n\n\n\n

This is perhaps one of the most important messages of the study for parents, educators, and therapists.<\/p>\n\n\n\n

Dysarthria and childhood apraxia of speech were very common<\/h2>\n\n\n\n

The researchers didn't just limit themselves to recording that \u00abspeech was delayed.\u00bb They tried to determine what kind of speech disorder was there<\/strong>.<\/p>\n\n\n\n

Among the 49 verbal items evaluated in detail:<\/p>\n\n\n\n

34 of the 49 (69%) exhibited dysarthria<\/strong>, while
29 of the 49 (59%) had childhood apraxia of speech (CAS)<\/strong>.<\/p>\n\n\n\n

In 16 people, meaning about one-third of this specific group, dysarthria and apraxia coexisted<\/strong>. Articulatory disorders and phonological difficulties were also recorded.<\/p>\n\n\n\n

\u0397 dysarthria<\/strong> it concerns difficulties in the neuromuscular control of speech. Voice volume, rate, articulation, breathing, or prosody may be affected.<\/p>\n\n\n\n

\u0397 childhood apraxia of speech<\/strong>, on the contrary, it is primarily a disorder of speech motor planning and programming: the child may know the word they want to say, but the brain has difficulty accurately planning and organizing the sequence of movements required to produce it.<\/p>\n\n\n\n

The fact that both speech motor disorders appeared so frequently led the authors to argue that the Motor speech disorders are a core part of the Kleefstra communication phenotype<\/strong>.<\/p>\n\n\n\n

This also has practical significance: a general assessment that \u00abthe child has a speech delay\u00bb is not always enough. It is necessary, when possible, specialized evaluation of speech production itself<\/strong>, so that the intervention is adapted to the actual mechanism of the difficulty.<\/p>\n\n\n\n

How understandable was the speech?;<\/h2>\n\n\n\n

The study also showed something that many families likely recognize from their daily lives.<\/p>\n\n\n\n

Individuals with Kleefstra syndrome typically became much easier to understand by the people who knew them well<\/strong>. Parents and primary caregivers reported that they usually understood their speech. However, intelligibility decreased when the interlocutor was a member of the extended family or a friend, and decreased even further when it was an acquaintance or a stranger. Only five participants were characterized as \u00abalways\u00bb intelligible.<\/p>\n\n\n\n

This shows why functional communication should not be assessed only within the home or in a therapeutic environment where everyone already knows the child.<\/p>\n\n\n\n

A child can communicate effectively with their mother or father and at the same time experience great difficulty when trying to make themselves understood at school, in the community, or from a stranger<\/strong>.<\/p>\n\n\n\n

The language also exhibited tremendous variability<\/h2>\n\n\n\n

Language proficiency was not the same for everyone.<\/p>\n\n\n\n

In the 90 individuals for whom relevant data were available, overall communicative performance ranged from severe difficulty to the average range. Ten individuals had communication scores in the average range.<\/strong><\/p>\n\n\n\n

Another interesting finding was that the researchers did not find a significant difference between receptive and expressive language<\/strong> at the group level. That is, a simple generalization of the type \u00abin Kleefstra comprehension is always much better than expression\u00bb was not confirmed.<\/p>\n\n\n\n

This does not mean that for a specific child, comprehension cannot be clearly better than their expression. It means that when the entire group was examined, there was no single standard that applied to everyone<\/strong>.<\/p>\n\n\n\n

And this is yet another reminder that in Kleefstra, individual assessment has greater value than general predictions.<\/p>\n\n\n\n

The 59% used Augmentative and Alternative Communication<\/h2>\n\n\n\n

One of the most important findings of the study concerns Augmentative and Alternative Communication (AAC)<\/strong>.<\/p>\n\n\n\n

Overall, 61 of the 103 individuals \u2014 59% \u2014 had used some form of AAC<\/strong>.<\/p>\n\n\n\n

AAC does not just mean electronic devices. In the study, it included gestures and signs, boards or other low-tech systems, as well as speech-generating devices and other technological systems.<\/p>\n\n\n\n

More than half of the participants, 53\/103<\/strong>, they had used signs. 37\/103<\/strong> they had used an aided AAC system, either low or high tech. One individual was even in the process of learning an eye-gaze controlled system.<\/p>\n\n\n\n

And here is a very important element:<\/p>\n\n\n\n

AAC was not only used by non-verbal individuals.<\/strong><\/p>\n\n\n\n

Of the participants who used sign language or some aided AAC system, several were also able to speak \u2014 and 22 of the 103 people were even able to use spoken sentences<\/strong>.<\/p>\n\n\n\n

So AAC should not be treated exclusively as a \u00abspeech replacement.\u00bb.<\/p>\n\n\n\n

It might work alongside the speech<\/strong>, offering a second, more reliable way of communication when oral expression is not sufficiently understandable or when the person has difficulty expressing more complex messages.<\/p>\n\n\n\n

\u00abIf we give him AAC, won't he try to speak?\u00bb<\/h2>\n\n\n\n

The study also recorded a concern that exists in many families.<\/p>\n\n\n\n

Out of the 94 caregivers who answered the relevant question, 19 \u2014 approximately 20% \u2014 believed that the use of AAC could hinder the development of natural speech<\/strong>.<\/p>\n\n\n\n

The authors address this perception with particular clarity. They point out that AAC should not be considered an obstacle to speech development and that it can instead support essential communication skills, such as turn-taking, symbolic communication, and the ability to express one's needs and choices.<\/p>\n\n\n\n

Therefore, one of the central conclusions of the paper is the need for early access to media communication<\/strong>, without waiting first for it to be proven that oral speech \u00abwill not come.\u00bb The authors believe that early access to AAC can support communication and quality of life.<\/p>\n\n\n\n

This point is particularly important for Kleefstra, precisely because an individual may have greater linguistic or cognitive ability than is apparent from his speech<\/strong>.<\/p>\n\n\n\n

Communication is not just about \u00abasking for something\u00bb<\/h2>\n\n\n\n

In a subgroup of 41 participants, the Communication Matrix<\/strong>, a tool that examines different functions of communication.<\/p>\n\n\n\n

The greatest relative capabilities were identified in communication for denial<\/strong> of one thing and for the acquisition or the request<\/strong> of something. On the contrary, communication for social reasons and especially for the exchange of information was more difficult.<\/p>\n\n\n\n

This has practical value for the design of the intervention.<\/p>\n\n\n\n

The goal of a communication system should not only be to enable a child to say \u00abI want water\u00bb, \u00abI want food\u00bb or \u00abno\u00bb.<\/p>\n\n\n\n

Communication also means:<\/p>\n\n\n\n

to narrate something that happened, to ask a question, to share a thought, to comment, to express an emotion, to participate in a conversation and to build social relationships.<\/p>\n\n\n\n

The study therefore supports the need to address communication much broader than the simple expression of basic needs<\/strong>.<\/p>\n\n\n\n

What did the study find regarding the loss of previously acquired skills?;<\/h2>\n\n\n\n

The paper also examined the issue of developmental and functional regression.<\/p>\n\n\n\n

Out of the 80 people for whom the relevant questionnaire was completed, 11 \u2014 14% \u2014 had experienced a loss of previously acquired skills<\/strong>. The loss most frequently involved language (9\/11), but was also recorded in social, fine motor, and gross motor skills.<\/p>\n\n\n\n

The age of onset varied significantly. In six individuals, remission began between 12 and 28 years of age, while in five it had appeared before 4 years of age. In several individuals it occurred later partial skills recovery<\/strong>seven of the nine individuals who had lost language skills regained at least some of them.<\/p>\n\n\n\n

Parents reported illness, epileptic seizures, or significant life changes as potentially temporally associated events. However, these were retrospective family reports and do not prove a causal relationship<\/strong>. The authors themselves emphasize that the mechanism of functional regression in Kleefstra remains unknown and that prospective natural history studies are required.<\/p>\n\n\n\n

Another interesting finding was that four individuals started using AAC again when the loss of skills affected their speech and language.<\/p>\n\n\n\n

This highlights yet another reason why AAC can be lifelong communication tool and not just an intervention for early childhood<\/strong>.<\/p>\n\n\n\n

Can we predict speech from genetic variation?;<\/h2>\n\n\n\n

Generally speaking, no.<\/p>\n\n\n\n

Despite the wide variety of genetic alterations included in the study, the researchers they did not identify a clear new genotype-phenotype relationship<\/strong> which could explain the wide variation in speech and language among individuals. Nor could age explain to a significant degree the variability in communicative ability.<\/p>\n\n\n\n

However, the earlier observation that the larger deletions over 1 Mb<\/strong> tend to be associated with a more severe overall phenotype. For the smaller deletions and the various intragenic variants of EHMT1<\/em>, however, the picture was much more variable.<\/p>\n\n\n\n

Again, this means that the result of a genetic test it cannot tell us with certainty today how a specific child's communication will develop<\/strong>.<\/p>\n\n\n\n

\n

What do all these mean for a child with Kleefstra?;<\/h2>\n\n\n\n

Perhaps the most important message of this specific work is that We must not judge a person's capabilities solely by how clearly or how much they speak.<\/strong>.<\/p>\n\n\n\n

In Kleefstra, speech production appears to be a particularly vulnerable function. A child may have significant difficulty planning or executing speech movements, while at the same time understanding more, knowing more, and having a much greater need for communication than what they can show through their voice. The fact that a speech disorder was recorded even in individuals with average cognitive and language functioning is one of the strongest findings of the study.<\/p>\n\n\n\n

Therefore, the intervention should not have as its sole objective the \u00abto speak\u00bb<\/strong>.<\/p>\n\n\n\n

The real goal is for the individual to can communicate<\/strong>.<\/p>\n\n\n\n

For some this will mean primarily spoken speech. For others signs. For others symbols, images or a voice output device. And for many it may mean a combination of all these<\/strong>, which varies according to their age and needs.<\/p>\n<\/div><\/div>\n\n\n\n

The need for early as well as lifelong support<\/h2>\n\n\n\n

The authors of the study do not propose a specific therapeutic protocol for all individuals with Kleefstra. Instead, they emphasize that the range of difficulties is so vast that the intervention must be personalized<\/strong>.<\/p>\n\n\n\n

A child with childhood apraxia of speech may need a different therapeutic approach than a child with a predominantly dysarthric pattern. An individual with minimal verbal speech may need a comprehensive AAC system, whereas a verbal child may also benefit from AAC as a supplementary mode of communication when they are not understood.<\/p>\n\n\n\n

And the needs do not stop when the child grows up.<\/p>\n\n\n\n

Researchers emphasize the need for lifelong access to personalized speech, language, and communication services<\/strong>, especially as needs change during school age, during the transition to adulthood, or in the event of a loss of already acquired skills.<\/p>\n\n\n\n

\n

An important message about communication in Kleefstra<\/h2>\n\n\n\n

The study by Morison, Morgan and colleagues fundamentally changes the way we can talk about communication in Kleefstra syndrome.<\/p>\n\n\n\n

The phrase is no longer enough:<\/p>\n\n\n\n

\u00abChildren with Kleefstra have delayed speech.<\/strong><\/p>\n\n\n\n

Reality is much more complex.<\/p>\n\n\n\n

There is a wide range of cognitive and linguistic abilities. Motor speech disorders \u2014 particularly dysarthria and childhood apraxia \u2014 appear to be a very significant part of the phenotype. The ability for verbal expression does not always reflect true linguistic or cognitive ability. And AAC is not an indication of treatment failure or abandonment of the effort to speak.<\/p>\n\n\n\n

It is Contact<\/strong>.<\/p>\n\n\n\n

And perhaps this is the most important message of the study for every family:<\/p>\n\n\n\n

A child does not need to wait until they can speak to have a voice.<\/strong><\/p>\n\n\n\n

Access to an effective means of communication can and should begin early, adapt to each person's capabilities, and accompany them as their needs evolve.<\/p>\n<\/div><\/div>\n\n\n\n

\n

Sources and related bibliography<\/h3>\n\n\n\n

Morison LD, Kennis MGP, Rots D, Bouman A, Kummeling J, Palmer E, Vogel AP, Liegeois F, Brignell A, Srivastava S, Frazier Z, Milnes D, Goel H, Amor DJ, Scheffer IE, Kleefstra T, Morgan AT.<\/strong> Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.<\/em> Journal of Medical Genetics. 2024;61(6):578\u2013585. doi:10.1136\/jmg-2023-109702. https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11148766\/pdf\/nihms-1973185.pdf<\/a><\/p>\n\n\n\n

The work was published online in early 2024 and in its final form in issue 61(6) of Journal of Medical Genetics<\/em>. It is also listed in PubMed 2025 erratum<\/strong> for the article.<\/p>\n<\/div><\/div>\n<\/div><\/div>","protected":false},"excerpt":{"rendered":"

Speech delay is one of the most frequently reported characteristics in Kleefstra syndrome\u2026.<\/p>","protected":false},"author":1,"featured_media":2491,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[9],"tags":[161,159,156,36,164,37,130,155,154,124,107,163,160,162,108,110,140,157,158,97],"class_list":["post-2227","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research","tag-aac","tag-childhood-apraxia-of-speech","tag-communication","tag-ehmt1","tag-functional-communication","tag-kleefstra-syndrome","tag-klefs1","tag-language","tag-speech","tag-124","tag-107","tag-163","tag-160","tag-162","tag-108","tag-110","tag-140","tag-157","tag-158","tag--kleefstra"],"yoast_head":"\n\u039f\u03bc\u03b9\u03bb\u03af\u03b1, 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