• About
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  • CAS
    • Diagnosis of CAS
    • CAS Assessment
    • Reading, literacy and CAS
    • Lived Experience CAS
    • CAS Therapy
    • Genetics and CAS
  • AOS
    • AOS PPAOS Therapy
    • Acquired AOS Diagnosis
    • Lived experience AOS
  • PPAOS
    • PPAOS Diagnosis
    • Lived experience PPAOS
  • Other conditions
  • More
    • About
    • What we do
      • Events
      • Membership
      • Learning Platform
      • Latest news
      • Meet the team
    • CAS
      • Diagnosis of CAS
      • CAS Assessment
      • Reading, literacy and CAS
      • Lived Experience CAS
      • CAS Therapy
      • Genetics and CAS
    • AOS
      • AOS PPAOS Therapy
      • Acquired AOS Diagnosis
      • Lived experience AOS
    • PPAOS
      • PPAOS Diagnosis
      • Lived experience PPAOS
    • Other conditions
  • About
  • What we do
    • Events
    • Membership
    • Learning Platform
    • Latest news
    • Meet the team
  • CAS
    • Diagnosis of CAS
    • CAS Assessment
    • Reading, literacy and CAS
    • Lived Experience CAS
    • CAS Therapy
    • Genetics and CAS
  • AOS
    • AOS PPAOS Therapy
    • Acquired AOS Diagnosis
    • Lived experience AOS
  • PPAOS
    • PPAOS Diagnosis
    • Lived experience PPAOS
  • Other conditions
Speech Apraxia UK

Giving a voice to individuals with apraxia of speech

Giving a voice to individuals with apraxia of speechGiving a voice to individuals with apraxia of speechGiving a voice to individuals with apraxia of speech

Other conditions,genetics,literacy

Here is a range of resources and links
Conditions that co-existGenetic testing +supportGenetic, metabolic. mitochondrial conditionsAAC, Reading, writing and literacy

What comorbidities are commonly found with speech apraxia?

Can apraxia of speech be present alone?

yes, Speech apraxia can be present on its own with no other conditions.

What other co-occuring conditions can there be?

With developmental apraxia of speech, people may find speech is a struggle generally, with conditions such as general dyspraxia common. Later acquired apraxia of speech commonly coincides with aphasia, stroke, or neurological diseases. 

There may be less attention given to speech apraxia if individuals have conditions such as learning disabilities or communication impairments. We are against this ableism and feel everyone deserves the same access to speech apraxia assessment.


Speech apraxia is not often a diagnosis in isolation: it may be:

  • Idiopathic (isolated CAS) with no known cause.
     
  • Syndromic, when part of a broader neurogenetic or neurodevelopmental profile.
     
  • Acquired, following neurological damage or degeneration.

Other Speech conditions commonly found alongside


Unlike aphasia (language difficulty) or dysarthria (muscle weakness affecting speech), apraxia specifically impacts the brain's ability to coordinate the complex movements required for accurate speech production. Picture is from ASHA website


 Articulation disorders

Articulation disorders are due to difficulty making the correct movements for speech. It usually affects only a small number of sounds. Common examples in English are where the ‘s’ sound is said like a ‘th’ sound e.g. sing sounds like thing (a lisp) and ‘r’ sounds like ‘w’ e.g. ‘rabbit’ sounds like ‘wabbit’. The child finds it difficult to say the sound on its own and in words.  Some children find this impacts on their wellbeing and mental health. Referral to speech and language therapy can help. Some articulation disorders make speech very hard to understand. These children should be referred to speech and language therapy.


Phonological disorders


Phonological disorders are when the child has difficulty using sounds in the correct place in a word or is using the wrong sounds in words. The child can say the sound on its own but has difficulty saying it in words or misses out sounds e.g. the child can say ‘k’ and ‘g’ on their own, but says ‘teep’ instead of ‘keep’ or ‘pid’ instead of ‘pig’. These can make the child very difficult to understand to people outside their family and sometimes to close family members. These children should be referred to speech and language therapy.


 Speech Sound Disorders: Articulation and Phonology 


Dysarthria


Dysarthria is a condition characterized by impaired articulation of speech due to neurological or muscular dysfunction affecting the muscles used for speaking. Anarthria refers to a more severe form where speech is completely absent. These disorders are typically caused by conditions affecting the central or peripheral nervous system, such as stroke, traumatic brain injury, cerebral palsy, or neurodegenerative diseases (ICD-10-CM R47.1) 

Differences in voice quality (e.g., strained, breathy) - 

Reduced breath support and short phrases - 

Altered resonance (e.g., hypernasality) - Consistent, imprecise articulation - Prosody changes related to rate and volume 


 newcastle-ebp-dysarthria-assessment-tool-n-dat-dec-2015.pdf 


 Practical-resource-pack-for-someone-with-dysarthria.pdf 


Headway: communication problems after brain injury


Stroke Association: communication tools


Aphasia

Aphasia (also called dysphasia) is a condition that makes it difficult to communicate. It can make it hard to speak, read, write and understand others. It's often caused by a stroke or brain injury. There's no cure, but people usually improve with treatment

Neurodevelopmental and Neurological Conditions


Autism Spectrum Disorder (ASD) – CAS can co-occur in a subset of autistic children; some research suggests higher prevalence.
 

Global Developmental Delay / Intellectual Disability – CAS may be one component of a broader neurodevelopmental profile. 


Communication and people with the most complex  needs: What works and why this is essential  -report 1488642010_Communication_guide.pdf
 

Epileptic encephalopathies (e.g. Landau–Kleffner syndrome, West syndrome) – may involve acquired or developmental speech apraxia.
 

Cerebral palsy (particularly with basal ganglia involvement) – though more often dysarthric, CAS features may also appear.

Acquired Conditions Associated with Acquired apraxia of speech (in older children or adults)

Stroke or Brain Injury

  • Left hemisphere stroke, particularly in the inferior frontal gyrus, insula, or motor cortex areas responsible for speech planning.
     
  • Traumatic Brain Injury (TBI) – if speech motor planning areas are affected.

 Neurodegenerative Disorders

  • Primary Progressive Apraxia of Speech (PPAOS) – a distinct neurodegenerative motor speech disorder, often linked to tauopathies.
     
  • Primary Progressive Aphasia (PPA) – especially the non-fluent/agrammatic variant, where AOS may coexist.
     
  • Corticobasal degeneration – can include apraxia of speech among other motor planning deficits.

Conditions that can co-exist

Aphasia with acquired apraxia of speech

 It is rare to have acquired apraxia of speech without some degree of aphasia.

 

Aphasia, on the other hand, is a language disorder caused by damage to the brain's language centers. It affects the ability to understand, produce, read, or write language. Aphasia can be classified as motor (non-fluent) aphasia, where speech production is primarily affected, or sensory (fluent) aphasia, where comprehension is more impaired 


Co-Occurrence and Neural Basis


AOS and aphasia frequently co-occur, particularly after stroke or left hemisphere injury, because the brain regions responsible for speech motor planning and language processing are anatomically adjacent and sometimes overlapping Clinical studies show a double dissociation, meaning a person can have one disorder without the other, but they often appear together, especially in non-fluent aphasia
While aphasia primarily involves language networks, AOS involves motor planning networks for speech. This distinction is important for diagnosis: pure AOS occurs without language deficits, whereas aphasia can exist without motor speech impairment 


Clinical Implications


Diagnosis: Differentiating AOS from aphasia is critical because treatment approaches differ. AOS therapy focuses on motor planning and speech coordination, often using repetitive practice, metronome pacing, or visual cues 


. Aphasia therapy targets language comprehension and expression, including word retrieval, sentence formation, and reading/writing skills 


Treatment Prioritization: When both disorders are present, clinicians often address language deficits first to improve overall communication, while simultaneously incorporating motor speech exercises for AOS 


Assessment: Speech-language pathologists use specific tests to distinguish between AOS and aphasia, examining features like sequential motion rates, speech sound errors, and comprehension abilities


 Acquired Apraxia of Speech: Diagnosis and Treatment  Tactus Therapy



Auditory Processing disorder (APD)

 Research suggests there may be an overlap between Auditory Processing Disorder (APD) and Childhood Apraxia of Speech (CAS), as both can involve difficulties processing, perceiving and producing speech; however, they are distinct conditions, and a comprehensive assessment is important to identify whether one or both disorders are present. 


What is Auditory Processing Disorder?

 Central Auditory Processing Disorder 


  • Nemours KidsHealth – Auditory Processing Disorder


Auditory Processing Disorder Self-Screening

Online APD Screening

This free screening tool may help identify possible signs of Auditory Processing Disorder. It is not a diagnostic assessment.

If you suspect APD, arrange a comprehensive assessment with an audiologist. Management often involves a combination of audiology input, speech and language therapy, and, where appropriate, auditory training programmes.

  • Forbrain Auditory Processing Disorder Test

Speech Apraxia International discount:
10% off all Forbrain orders
Discount code: 3A9906634


Auditory Processing Disorder Checklist

How to use this checklist

Observe your child over several weeks rather than relying on a single day.

Try to observe them in different environments, including:

  • Home
  • School
  • Busy or noisy public places

Record how often each behaviour occurs (Never, Rarely, Sometimes, Often).

Tick each statement that applies, even if it only occurs occasionally.

Listening and Understanding

  • Difficulty identifying where sounds are coming from
  • Difficulty hearing when several people are talking
  • Easily distracted by background noise
  • Frequently misunderstands spoken information
  • Often asks for repetition ("What?" or "Pardon?")
  • Difficulty following multi-step spoken instructions
  • Difficulty joining conversations or classroom discussions
  • Reduced understanding of age-appropriate vocabulary
  • Difficulty understanding or remembering information that has been read
  • Difficulty recalling the order of events in stories or routines
  • Misunderstands meaning conveyed through tone of voice or intonation
  • Difficulty understanding humour, sarcasm, idioms or other non-literal language

Speaking and Communication

  • Slow to respond to spoken information
  • Difficulty answering verbal questions
  • Word-finding difficulties
  • Relies heavily on gestures or facial expressions
  • Frequently mispronounces words, particularly longer words
  • Difficulties using grammar correctly
  • Errors in word order
  • Uses short, simple sentences rather than more complex language
  • Gives inappropriate responses or fails to respond during conversation


Phonological Awareness


  • Confuses words with similar sounds
  • Difficulty recognising rhyming words
  • Difficulty identifying individual speech sounds
  • Difficulty identifying first or last sounds in words
  • Difficulty blending sounds together
  • Difficulty breaking words into individual sounds
  • Frequent spelling errors
  • Difficulty sounding out unfamiliar words when reading

Attention, Memory and Learning

  • Difficulty maintaining attention to spoken information
  • Appears to daydream or "switch off"
  • Difficulty following conversations
  • Difficulty remembering daily routines
  • Poor recall of verbal information
  • Delayed language development
  • Speech sound or phonological difficulties
  • Poor spelling
  • Poor reading and reading comprehension
  • Difficulty learning songs or nursery rhymes
  • Poor note-taking skills
  • Frequently forgets homework or verbal instructions
  • Requires extra time to complete schoolwork

Scoring

Record the number of items that apply in each section:

SectionScoreListening and Understanding___ /12Speaking and Communication___ /9Phonological Awareness___ /8Attention, Memory and Learning___ /13


Interpreting the Checklist


This checklist is not a diagnostic tool.

If approximately half or more of the items are present across several sections, consider seeking a comprehensive assessment by an audiologist experienced in Auditory Processing Disorder.

Following assessment, recommendations may include:

  • Audiological management
  • Speech and language therapy
  • Classroom accommodations
  • Listening strategies
  • Auditory training programmes where appropriate

 

ASHA Resources

  • ASHA Blog: Dig Deeper if Treating a Child With Suspected APD
  • ASHA Blog: Does Auditory Processing Disorder Meet the Criteria for a Legitimate Clinical Entity?
  • ASHA Leader: Don’t Wait to Diagnose Auditory Processing Disorder
  • ASHA Position Statement: (Central) Auditory Processing Disorders—The Role of the Audiologist
  • Central Auditory Processing and the Common Core
  • Coding for Reimbursement Frequently Asked Questions: Audiology—What code/s should I use for auditory processing (AP) evaluation and treatment?
  • Coding for Reimbursement Frequently Asked Questions: Speech-Language Pathology—What code/s should I use for auditory processing (AP) evaluation and treatment?
  • Focusing Care on Individuals and Their Care Partners
  • Hearing-Related Topics: Terminology Guidance
  • ICD-10-CM Coding FAQs for Audiologists and SLPs: What code should an audiologist use for CAPD?
  • ICD-10-CM Coding FAQs for Audiologists and SLPs: What ICD-10-CM code should I use for auditory processing (AP)?
  • Infection Control Resources for Audiologists and Speech-Language Pathologists
  • Interprofessional Education/Interprofessional Practice (IPE/IPP)
  • Tips for the Differential Diagnosis of Central Auditory Processing Disorder (CAPD) [ASHA Case Study Video; Ferre, 2016]
  • Understanding the Differences Between Auditory Processing, Speech and Language Disorders, and Reading Disorders [PDF]



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Autism Spectrum Disorder and childhood apraxia of speech

Corticobasal Degeneration /Progressive Supranuclear Palsy

 Autism and Childhood Apraxia of Speech (CAS) can occur together. Some autistic children are minimally verbal or non-speaking because of language, social communication or sensory differences, while others may also have a motor speech disorder such as CAS. Distinguishing between these presentations is essential, as intervention approaches may differ significantly.

This page brings together useful information, research and support for parents, professionals and researchers.


Parent Experiences


Lottie Berry' shares her family's journey as the mother of an autistic, non-speaking son with suspected Childhood Apraxia of Speech (CAS).

https://taptypetalk.com/


Childhood Apraxia of Speech and Minimally Verbal Autistic Children

Presentation by Speech and Language Therapist Ruth Jones.


https://www.patreon.com/SpeechApraxiaInternational/posts/childhood-of-and-162426264?utm_medium=clipboard_copy&utm_source=copyLink&utm_campaign=postshare_fan&utm_content=web_share


Speech and Language Development

Communication Development Center

Speech and language development in autism.

https://communicationdevelopmentcenter.com/


Video Resource-Fantastic Short Film About Autism

https://youtu.be/2aQqo1HaJWI?si=PbNFO6Et139ek0H1


Neurodiversity-Affirming Practice


  • https://onlinelibrary.wiley.com/doi/10.1111/dmcn.15214 (Neurodivergence-informed Therapy)
  • https://scholarworks.wmich.edu/ojot/vol10/iss4/6/ (Neurodiversity-Affirming Practices are a Moral Imperative for Occupational Therapy)
  • https://www.bps.org.uk/psychologist/neurodiversity-affirmative-education-why-and-how (Neurodiversity-Affirmative Education: Why and How?)


Autism Interventions


  • https://www.autismcrc.com.au/


Communication and Healthcare


  • https://pubmed.ncbi.nlm.nih.gov/37449320/ (Autistic SPACE Framework)


5 Good Communication Standards RCSLT

 www.rcslt.org/wp-content/uploads/media/Project/RCSLT/five-good-communication-standards.pdf 


  • https://www.rcslt.org/speech-and-language-therapy/clinical-information/autism/

  • https://www.bild.org.uk/

  • https://nationalautistictaskforce.org.uk/

Behaviour and Emotional Regulation

  • https://www.nice.org.uk/guidance/ng11

  • https://www.nice.org.uk/guidance/ng225

  • https://www.challengingbehaviour.org.uk/

  • https://www.gov.uk/government/publications

  • https://journals.sagepub.com/doi/10.1177/2156869320967399

Neurodevelopment and Diagnosis


  • https://www.thirdspace.scot/nait/


Autistic Masking

  • https://www.liebertpub.com/doi/10.1089/aut.2020.0083
  • https://www.sciencedirect.com/science/article/pii/S0272735821000920
  • https://www.liebertpub.com/doi/10.1089/aut.2020.0071
  • https://www.thirdspace.scot/nait/

Transition to Adulthood

  • https://www.ndti.org.uk/
  • https://www.local.gov.uk/

Co-production

  • https://journals.sagepub.com/
  • https://www.autistica.org.uk/
  • https://aaspire.org/
  • https://www.skillsforhealth.org.uk/
  • https://www.rcslt.org/speech-and-language-therapy/clinical-information/autism/

ASHA Autism Resources

https://www.asha.org/practice-portal/clinical-topics/autism/


Resources for Families

Early Years

  • https://autismnavigator.com/
  • https://firstwordsproject.com/
  • https://www.cdc.gov/ncbddd/actearly/
  • https://autisminternetmodules.org/


Adults

  • https://askjan.org/


General Autism Resources

  • https://www.autismparentingmagazine.com/
  • https://autisticadvocacy.org/
  • https://www.autismspeaks.org/
  • https://autismnow.org/
  • https://iancommunity.org/
  • https://nationalautismassociation.org/
  • https://www.asha.org/njc/
  • https://autismpdc.fpg.unc.edu/
  • https://iacc.hhs.gov/
  • https://www.easterseals.com/

Education

Understanding Autism

https://neuroinclusiveeducation.com/understanding-autism/


Autism and Childhood Apraxia of Speech can occur together. Every autistic child or adult with persistent speech difficulties should receive a comprehensive assessment that considers motor speech, language, hearing, sensory processing and overall communication, ensuring intervention is tailored to their individual profile.

Corticobasal Degeneration /Progressive Supranuclear Palsy

Corticobasal Degeneration /Progressive Supranuclear Palsy

Corticobasal Degeneration /Progressive Supranuclear Palsy

Corticobasal degeneration and progressive supranuclear palsy are most commonly responsible for primary progressive apraxia of speech. nature.com/articles/s41467-021-23687-8


  • PSPA (PSP Association UK)
    Information, support, local groups and practical advice for people living with PSP and corticobasal degeneration.
    https://pspassociation.org.uk
  • CurePSP
    International charity providing education, research updates and support for PSP, corticobasal degeneration and related disorders.
    https://www.psp.org 
  • NHS – Progressive Supranuclear Palsy
    Overview of symptoms, diagnosis and treatment.  Progressive supranuclear palsy - NHS 

Do you want to help research PSP?  If so you can join this register. Our work in congenital conditions and rare diseases - NDRS



Developmental Dyspraxia

Corticobasal Degeneration /Progressive Supranuclear Palsy

Developmental language disorder

 Developmental Dyspraxia (global apraxia). Developmental coordination disorder or dyspraxia refers to an overall motor incoordination which is commonly found alongside childhood apraxia of speech.

Developmental language disorder

Corticobasal Degeneration /Progressive Supranuclear Palsy

Developmental language disorder

People with CAS show elevated levels of antigliadin IgA antibodies and glutamate, along with reduced levels of GABA, unlike those with DLD.  


Dysfluency

Fredreich's Ataxia

Dysfluency

For individuals with apraxia of speech, periods of progress can be interrupted by sudden dysfluency, pauses, repetitions, or stuttering-like moments. Apraxia of speech and dysfluency are different conditions but can sometimes co-occur.

  

  

Literature review of what are the attitudes toward people who clutter, and can negative attitudes towards cluttering be changed? -  to read please email info@speechapraxia.co.uk







Stamma.org

Epilepsy

Fredreich's Ataxia

Dysfluency

Epilepsy, autism and apraxia of speech can sometimes co-occur due to genetic influence.

 

epilepsy.org.uk

Fredreich's Ataxia

Fredreich's Ataxia

 While dysarthria (slurred speech) is common in Friedreich’s ataxia, some individuals may also show signs of apraxia of speech. 



Mental Health

 Mable Therapy | The link between children's mental health and speech 


 RCSLT-briefing-Mental-Health-Bill-Committee-Stage-Briefing-January-2025.pdf 

Stroke/neurological injury/disease

Stroke/neurological injury/disease

You may acquire both apraxia of speech and ataxic dysarthria, particularly after complex neurological events like a cerebellar stroke, multi-focal brain injuries, or neurodegenerative diseases (e.g., Multiple System Atrophy or certain forms of progressive ataxia). In these cases, you may experience both impaired motor speech planning (speech apraxia) and motor execution/coordination difficulties (ataxia).  



Stroke Resources

Genetic, metabolic, or mitochondrial disorders

Cohen syndrome

49,XXXXY and Cornelia de Lange Syndrome

49,XXXXY and Cornelia de Lange Syndrome

 In Cohen syndrome severe speech delay is observed in most children over 5 years, highlighting the need to screen for speech apraxia early.   

Cohen association

49,XXXXY and Cornelia de Lange Syndrome

49,XXXXY and Cornelia de Lange Syndrome

49,XXXXY and Cornelia de Lange Syndrome

49,XXXXY and Cornelia de Lange syndrome (CdLS). Both conditions affect neurodevelopment, facial features, and motor skills. 49,XXXXY is associated with childhood apraxia of speech.  

Creatine Deficiency Syndromes

49,XXXXY and Cornelia de Lange Syndrome

Creatine Deficiency Syndromes


Creatine transporter deficiency can cause speech apraxia, not just language delay. Affected children may understand 

more than they can say, due to motor planning difficulties. Motor-based speech therapy is key. 

 L-Arginine:Glycine Amidinotransferase (AGAT) Deficiency

 Guanidinoacetate Methyltransferase (GAMT) Deficiency  

 Creatine Transporter Deficiency (CTD) 

#creatinedeficiency

 Association for Creatine Deficiencies - Advancing Creatine Disorder Research 

Down Syndrome

Creatine Deficiency Syndromes

Many individuals with Down syndrome experience difficulties with speech intelligibility   Recent parent-reported data shows that many people with down syndrome display hallmark features of apraxia, such as inconsistent speech errors and difficulty sequencing sounds. 


Resource

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Ectodermal dysplasia

Ectodermal dysplasias are a group of rare inherited conditions affecting structures such as teeth, hair, nails, and sometimes the ears and nerves. While speech apraxia is not a core feature, certain aspects of ectodermal dysplasia may increase the risk of motor speech difficulties. Oral differences, such as missing or malformed teeth and changes in palate shape, can make it harder for children to master precise speech movements. Hearing difficulties linked to inner ear development, may reduce the auditory feedback needed for speech learning. In rare cases, neurological involvement may affect the nerves or brain regions that coordinate speech planning. Repeated ENT issues and reduced oral-motor practice can further compound these challenges. Together, these factors may contribute to speech apraxia in some individuals.   


edsociety.co.uk

Fragile X

Homocystinuria

Galactosaemia

 Pragmatic difficulties, oral-motor coordination, attention deficits    Fragile X Syndrome: Causes, Symptoms, and Treatment of the Most Common Inherited Intellectual Disability • FRAXA Research Foundation - Finding a Cure for Fragile X Syndrome 



Galactosaemia

Homocystinuria

Galactosaemia

 Galactosemia, a rare inherited metabolic condition in which the body cannot properly break down galactose (sugar in dairy), has a high co-occurrence with speech apraxia

 

Galactosaemia.org

Homocystinuria

Homocystinuria

Hypomelanosis of Ito

 Children with homocystinuria, a rare metabolic disorder, can present with developmental delays, intellectual disability, and speech-language difficulties. Motor speech disorders, including childhood apraxia of speech (CAS), may occur due to the impact of homocystinuria on the nervous system and motor control. In such cases, apraxia therapy focuses on improving motor planning for speech, while also considering the broader cognitive, metabolic, and medical needs of the child.  (please note photo may not reflect syndrome)


Hypomelanosis of Ito

Hypomelanosis of Ito

  Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). Speech Apraxia-like profiles in some cases (speech motor planning difficulties) 

Joint hypermobility syndrome/Ehlers–Danlos syndrome

Individuals with joint hypermobility syndromes, including Ehlers–Danlos syndrome hypermobility type (EDS-HT), often experience a wider neurodevelopmental profile beyond joints and skin  and can extend to oral motor control. (Baeza-Velasco, 2021).  


   

Genetic and Acquired Disorders

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Genetic conditions which may have speech apraxia

Kabuki syndrome

7q11.23 duplication syndrome

Kabuki syndrome

Key characteristics include distinctive facial features such as arched eyebrows with thinning in the outer half, unusually shaped or prominent ears, and a depressed nasal tip; skeletal differences affecting the fingers or vertebrae; persistent fetal finger pads; mild to moderate intellectual disability; and short stature. In more than 70% of cases, the condition is linked to mutations in the MLL2 gene. Children may also present with speech features such as differences in resonance and prosody, alongside articulation difficulties, some of which may resemble or be described as apraxia of speech.

Kabukiuk.org.uk

Noonan syndrome

7q11.23 duplication syndrome

Kabuki syndrome

Noonan syndrome is a genetic condition usually caused by changes (mutations) in certain genes (e.g., PTPN11, SOS1, RAF1)..  It has wide-ranging features, including those that affect speech, language, and communication

 



Noonansyndrome.org.uk

7q11.23 duplication syndrome

7q11.23 duplication syndrome

7q11.23 duplication syndrome

 7q11.23 duplication syndrome is a rare genetic condition linked to developmental delays in motor, speech, and social skills, alongside neurologic features such as hypotonia, abnormal gait, and involuntary movements. Speech sound disorders are highly prevalent, with around 83% of children affected. The most common is childhood apraxia of speech (CAS), a motor planning disorder that makes accurate and consistent speech production difficult, followed by dysarthria and phonological disorders. Language profiles often show stronger vocabulary than grammar skills. Early, intensive speech-language therapy, particularly with systematic phonics approaches. supports better language and literacy outcomes. Behavioral challenges, anxiety, ADHD, and autism spectrum features may also be present. Distinctive facial features, congenital anomalies, and cardiovascular issues (notably aortic dilation) are common.  

PURA syndrome

Worster-Drought Syndrome

7q11.23 duplication syndrome

 PURA syndrome is caused by mutations in the PURA gene, located on chromosome 5  leading to significant neurodevelopmental challenges and profound impacts on communication. A key feature is the high prevalence of Childhood Apraxia of Speech (CAS), a motor speech disorder that disrupts the brain’s ability to plan and sequence the precise movements needed for speech. Many individuals with PURA syndrome are non-speaking, highlighting the severity of expressive language impairment. In contrast, receptive language skills—understanding speech—are often relatively stronger, suggesting a clear expressive–receptive gap. Alongside CAS, phonological and articulation difficulties may also be present. Early diagnosis and targeted intervention by a multidisciplinary team are vital, with speech and language therapy focusing on alternative communication strategies to support expressive communication. 

PURA Association

Rubinstein-Taybi

Worster-Drought Syndrome

Worster-Drought Syndrome

The only way to know if someone has the condition is by noting the characteristic physical features. The facial features include a small head size, thick scalp hair which may extend onto the forehead, down-slanting eyes, a prominent nose, a a small mouth, and a high-arched palate. Additionally, the thumbs and first toes are broad and sometimes angulated. Speech problems are present in about 90% of patients. 

Worster-Drought Syndrome

Worster-Drought Syndrome

Worster-Drought Syndrome

Worster-Drought Syndrome (WDS), also known as congenital suprabulbar paresis, is a rare form of cerebral palsy  

The underlying cause is often linked to abnormalities in the perisylvian cortex, sometimes due to congenital bilateral perisylvian polymicrogyria. Differential diagnosis is crucial, as WDS can be confused with childhood apraxia of speech or structural anomalies. Unlike apraxia, WDS shows clear neuromotor signs and persistent bulbar involvement. Early recognition is vital to plan interventions, manage feeding and communication, and support families long-term. 

www.wdssg.org

Other genetic conditions

Other genetic conditions

Other genetic conditions

Search for reputable, evidence-

based sources – NIH

• GeneReviews – NORD

– OMIM

• Patient/professional organizations – Affiliated with reputable national 

orgs/societies – Medical Advisory Board

– Centers of Excellence

www.wdssg.org

Coexisting conditions

Sensory Processing Difficulties

Visual processing disorder /apraxia

Visual processing disorder /apraxia

Emerging evidence suggests a link between sensory processing and speaking.


 Björelius, H., Tükel, S., Tsilingaridis, G., Malmenholt, A., & Terband, H. (2025). Sensory profiles in children with speech sound disorders. Folia Phoniatrica et Logopaedica. Advance online publication. https://doi.org/10.1159/000548782 


Visual Processing and Speech - Christine Nearchou Patreon- Speech Apraxia Interantional


https://www.patreon.com/SpeechApraxiaInternational/posts/sensory-and-are-160015086?utm_medium=clipboard_copy&utm_source=copyLink&utm_campaign=postshare_fan&utm_content=web_share


 Visual Processing Disorder (VPD) & Information Dysfunction 

Visual processing disorder /apraxia

Visual processing disorder /apraxia

Visual processing disorder /apraxia

 Visual gaze apraxia


This is the only organisation in the world that focuses on eye glaze dyspraxia


About us - Our goals | For Small Steps ODV Sardinia 


Visual processing disorder and learning difficulties


  https://youtu.be/dnLpQvODZik?si=0xSRv5q8IzeCDzCF 


 showPdf 


 Visual Cognition Assessment Tool for Children 





Other factors

Enabling communication

 Sign up to Communication Access

 

Home - Communication Access UK 


Informing and Profiling Augmentative and Alternative  Communication (AAC) Knowledge and Skills 

 ipaacks.pdf 




Eating and drinking

Speech Apraxia does not usually effect eating, drinking or swallowing. However other co-occuring conditions might.


 

Support may include:

  • adapting food textures, 
  • pacing strategies, 
  • oral motor support, 
  • posture advice, 
  • environmental changes, 
  • and exercises targeting coordination and control.

Buy Picky eaters

Hearing impairements

Children and adults can have both speech apraxia and hearing loss. Unfortunately, one condition can sometimes mask the other, meaning speech apraxia may go undiagnosed or be mistaken for difficulties caused solely by hearing loss.

Hearing assessment should be a routine part of every speech and language evaluation, and individuals with hearing loss who have persistent speech difficulties should also be assessed for speech apraxia.

 

Why This Matters


  • Hearing checks should be a standard part of every speech and language assessment. 
  • Speech apraxia can occur alongside hearing loss. 
  • Hearing loss does not rule out Childhood Apraxia of Speech (CAS) or acquired apraxia of speech. 
  • Speech apraxia is often overlooked in deaf and hard of hearing individuals. 
  • Early diagnosis allows appropriate therapy and better long-term communication outcomes. 

Assessment


A comprehensive assessment should include:


Audiology


  • Full hearing assessment 
  • Hearing aid review 
  • Cochlear implant review (where appropriate) 
  • Functional listening assessment 

Speech and Language


  • Assessment for Childhood Apraxia of Speech (CAS) 
  • Assessment for acquired apraxia of speech (where appropriate) 
  • Speech sound assessment 
  • Oral motor examination 
  • Language assessment 
  • Functional communication assessment 

Multidisciplinary Team

Assessment is often most effective when professionals work together, including:

  • Speech and Language Therapist 
  • Audiologist 
  • Teacher of the Deaf 
  • ENT specialist 
  • Cochlear implant team 
  • Educational professionals 
  • Parents and carers 

Therapy and Intervention


Treatment should always be individualised and may include:

  • Motor speech therapy 
  • Listening and spoken language therapy 
  • Auditory verbal therapy 
  • British Sign Language (BSL) or other sign language support 
  • AAC (Augmentative and Alternative Communication) 
  • Hearing aid or cochlear implant support 
  • Home practice programmes 
  • School support 

UK Professional Guidance

The Royal College of Speech and Language Therapists (RCSLT) provides detailed guidance for professionals working with deaf and hard of hearing people.


RCSLT Deafness Overview

Start here:

  • RCSLT Deafness Overview 

Professional Guidance

  • RCSLT Position Statement on Deafness (PDF) 
  • RCSLT & BATOD Collaborative Working Guidance 
  • Appendix 2 – Establishing Roles and Responsibilities (Word) 
  • RCSLT & NDCS Recommendations for England 
  • Specialist SLT Person Specification (England) 
  • Commissioning and Service Model (Cheshire & Merseyside) 
  • RCSLT Recommendations for Scotland 
  • Specialist SLT Person Specification (Scotland) 

UK Professional Organisations

  • Royal College of Speech and Language Therapists (RCSLT) 
  • British Academy of Audiology (BAA) 
  • British Society of Audiology (BSA) 
  • British Association of Teachers of the Deaf (BATOD) 
  • British Cochlear Implant Group (BCIG) 

Deaf Organisations

  • National Deaf Children's Society (NDCS) 
  • RNID 
  • British Deaf Association (BDA) 
  • Royal Association for Deaf People (RAD) 
  • Hearing Link Services 
  • SignHealth 
  • Sense 
  • deafscotland  deafscotland - YouTube  
  • Life and Deaf  Life and Deaf UK | Deaf Awareness, Support & Inclusive Living 
  • Wales Council for Deaf People 

Family Support

  • Hear Together 
  • The Elizabeth Foundation 
  • Cochlear Implanted Children's Support (CICS) 
  • Microtia UK 
  • Auditory Verbal UK (AVUK) 
  • Cued Speech UK 

Hearing Technology

  • Advanced Bionics 
  • Cochlear UK 
  • MED-EL UK 
  • Oticon 
  • Phonak 

UK Reports

RNID  Social research reports - RNID 

The Hearing Matters reports describe the impact of hearing loss across the UK.

  • Hearing Matters Reports (England, Scotland, Wales & Northern Ireland) 

National Deaf Children's Society

  • Right from the Start Report (PDF)  Right-from-the-Start-campaign-report-FINAL.pdf 


International Organisations

  • Alexander Graham Bell Association 
  • American Cochlear Implant Alliance 
  • American Society for Deaf Children 
  • Hands & Voices 
  • Hearing First 
  • Language First 
  • National Association of the Deaf (USA) 
  • National Center for Hearing Assessment and Management (NCHAM) 
  • National Deaf Center on Postsecondary Outcomes 
  • Supporting Success for Children with Hearing Loss 
  • Visual Language and Visual Learning Center (VL2) 

A diagnosis of hearing loss does not exclude speech apraxia, and a diagnosis of speech apraxia does not exclude hearing loss. Individuals with both conditions benefit from early identification, multidisciplinary assessment, collaborative working, and evidence-based intervention that addresses both their hearing and speech motor needs


 

Speech to text

  • Live Transcribe
    https://play.google.com/store/apps/details?id=com.google.audio.hearing.visualization.accessibility.scribe 
  • Otter.ai
    https://otter.ai 
  • Microsoft Dictate
    https://dictate.ms 

Text to speech

  • NaturalReader
    https://www.naturalreaders.com

Literacy, writing and phonological awareness

APAR - Assessment of Phonological Awareness and Reading - Home page 


 List  of resources for reading difficulty GaabLab_DyslexiaResourcePacket_December2025.pdf 


Charity promoting an education system where all children are taught literacy regardless of their label

www.teachustoo.org.uk


Modified reading assessment for children with complex needs

 Modified Bridge Table format Feb 2017 

Development writing scale for children with complex needs (Sturm et al 2012)

 TLD200121 


 Word identification and decoding | Literacy Instruction for Students with Significant Disabilities 

 

Find printable and interactive curricular resources

 Symbols for All 


 Literacy and AAC - TalkSense 

101 ideas for  literacy +AAC


Mechanism of speech

 


 The Vocal Sub-Systems - VoiceFit 

Multilinguilism and speech sound disorders in children

Buy on Amazon

Phonics +words

 Literacy and AAC - TalkSense 

101 ideas for  literacy +AAC


 Free phonics resources


 Phase 1 Online Games – Letters and Sounds 


 Word identification and decoding | Literacy Instruction for Students with Significant Disabilities 


 





Multilinguilism and speech apraxia

 This website has speech resources in over 100 languages.

Overview - Multilingual Children's Speech 

Languages of the UK

 2-indigenous-languages.pdf 


Typical speech processes experienced by adults with bilingualism

 4-typical-processes-bilingual-adults.pdf 


https://www.youtube.com/playlist?list=PLRXcSAl_dA7arRMrE0qdxLuzGChY1LgY2

Bilingual aphasia test

https://www.bellfoundation.org.uk/resources/eal-assessment-framework/


 best-practice-cyp-bilingual-settings.pdf 


Sharynne McLeod’s multilingual speech website

SPAA-C (Speech Participation and Activity of Children)

Speech Sounds in the World’s Languages

  • Speech Accent Archive – George Mason University


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Information on this page is for general education and guidance only and is not a substitute for individual professional, legal, clinical or educational advice.. SEND and EHCP information relates mainly to England; arrangements differ elsewhere in the UK and internationally. Support should always be based on the individual needs of the child or young person.

We aim to keep information accurate and current, but guidance, legislation and professional recommendations may change. Please check official sources or seek appropriate professional advice where needed.

External links are provided for information only and do not necessarily imply endorsement.


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