Giving a voice to individuals with apraxia of speech
Genetic Testing, Associated Conditions and Support
Red flag for genetic condition
Red flag for genetic condition
Red flag for genetic condition
Child Apraxia of Speech (CAS) may be due to unknown cause, trauma or genetic cause.
Research has identified CAS is a Red flag for a genetic (rare) condition, identifying 1 in 3 cases are due to genetic cause.
Over 30 genes have been identified linked to CAS
as_fact_sheet_07-06-23_translationalcentreforspeechdisorders_flyertemplate.pdf
Genetic Testing
Red flag for genetic condition
Red flag for genetic condition
If you are considering genetic testing, contact your GP or Paediatrician.
This guide from Genetic Alliance UK and the NHS UK website explains more
Genetic services and testing - Genetic Alliance
Genetic and genomic testing - NHS
For lots of information about Genetics of Speech, The Translational Centre for Speech Disorders, part of The Murdoch Children's Research Centre
website is an excellent place to start
Home - Centre of Research Excellence in Speech and Language
This includes factsheets, research, and resources
Rare Disease Genomic Testing
https://www.genomicseducation.hee.nhs.uk/education/online-courses/genomics-in-the-nhs-a-clinicians-guide-to-genomic-testing-for-rare-disease/
Rare conditions
Charities and support
Charities and support
Conditions associated with candidate genes for childhood apraxia of speech - Centre of Research Excellence in Speech and Language
Other conditions we have studied that include speech and language disorder presentations - Centre of Research Excellence in Speech and Language
Rare Diseases (conditions) affect 1 in 2000 people. Rare Diseases are individually rare but collectively common. There are over 3.5 million people in the UK with a rare condition. 1 in 17 people will be affected by a rare disease at some point in their life I Am Number Seventeen - 1 in 17Medics For Rare Disease is a registered charity driving an attitude change towards rare disease amongst medical students and doctors in training.
England Rare Diseases Action Plan 2025: main report - GOV.UK
Charities and support
Charities and support
Charities and support
Rare Disease Day is the last day of February, the rarest day of all. Rare Disease Day 2026 - raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and carers.
Unique - Unique | Understanding Rare Chromosome and Gene Disorders
Is a UK charity which supports families across the world with rare chromosome and gene disorders.
Their website has free disorder guides on conditions, practical guides, and genetics.
A closed Facebook group supports families, as well as the opportunity to register the genetic informationn, for free, to the Unique database.
There is also the possibility of contacting other families with the same condition.
Emerging Genetic Associations with Childhood Apraxia Speech
What is happening in genetic research?
Genetic research into childhood apraxia of speech is developing rapidly. A growing number of gene variants have been identified in children with CAS. For some genes there is strong evidence that CAS forms part of the condition, while others have currently been identified in only a small number of individuals. An association with CAS should therefore not be interpreted as meaning that everyone with a variant in that gene will have childhood apraxia of speech
ANKRD12
Encodes a protein involved in regulating gene transcription. Variants are associated with neurodevelopmental difficulties including developmental delay and intellectual disability. Its relationship with CAS is still emerging.
BRPF1
Important in chromatin regulation and therefore the control of gene activity during development. BRPF1-related disorders can involve developmental delay, intellectual disability and speech/language difficulties. Evidence linking BRPF1 with CAS is currently considered moderate
CAPRIN1
Encodes an RNA-binding protein important for the regulation of proteins within cells, including neurons. Variants have been associated with neurodevelopmental disorders involving language impairment, ADHD and autism. Its specific relationship with CAS remains under investigation.
DDX59
Involved in RNA processing and normal cellular development. Pathogenic variants have been associated with developmental disorders, sometimes involving neurological and congenital abnormalities. Evidence specifically connecting it with CAS remains limited.
ERF
A transcriptional regulator best known for its association with craniosynostosis and related developmental conditions. A pathogenic ERF variant was identified in a child recruited specifically because of CAS, making it an emerging candidate for speech motor development.
HNRNPK
An important RNA-binding protein involved in gene expression, transcription and RNA processing. Pathogenic variants cause Au-Kline syndrome, which can include intellectual disability, developmental delay, speech impairment and congenital abnormalities. CAS has been identified in genetic CAS research.
KDM5C
Encodes a protein involved in regulating chromatin and gene expression. Pathogenic variants cause an X-linked neurodevelopmental disorder that can involve intellectual disability, speech difficulties, behavioural differences, epilepsy and motor problems. Its specific CAS association remains preliminary.
KMT2A
A major regulator of gene expression through chromatin modification. Pathogenic variants cause Wiedemann-Steiner syndrome, commonly involving developmental delay, intellectual disability, hypotonia and speech/language difficulties. Evidence for CAS specifically is still developing.
PHF21A
Regulates gene expression by interacting with chromatin. PHF21A-related neurodevelopmental disorders can involve intellectual disability, hypotonia, autism, ADHD, epilepsy and speech/language delay. Current independent evidence specifically for CAS is limited.
PURA
PURA plays important roles in DNA/RNA regulation and brain development. PURA syndrome can cause significant developmental delay, hypotonia, epilepsy and severely delayed or absent speech. PURA variants have been identified in CAS cohorts, although independent CAS evidence remains limited. PURA.org has a range of support.
SETD1B
Encodes a histone methyltransferase involved in regulating gene expression. SETD1B-related neurodevelopmental disorder is associated with developmental delay, intellectual disability, language difficulties, behavioural differences and frequently epilepsy. A high-confidence variant has been identified in a CAS cohort.
Emerging Genetic Associations of Childhood Apraxia Speech
SPAST
SPAST
SPAST
Encodes spastin, a protein important for the neuronal cytoskeleton. SPAST is best known as a cause of hereditary spastic paraplegia type 4. A pathogenic variant was identified in CAS research, but whether CAS is a consistent feature of SPAST-related disease remains uncertain.
TAOK2
SPAST
SPAST
A brain-development gene located within the 16p11.2 region, itself strongly associated with CAS. TAOK2 contributes to neuronal development, dendrite growth and synaptic function. Variants are associated with autism and speech/language difficulties, but evidence for TAOK2 specifically causing CAS remains emerging.
TET3
SPAST
TRIP12
Involved in epigenetic regulation—controlling how genes are switched on and off during development. Pathogenic variants cause a neurodevelopmental disorder that can include intellectual disability, developmental delay and speech/language difficulties. Its CAS association requires further study.
TRIP12
TRIP12
Regulates proteins involved in important cellular and developmental processes. Pathogenic variants cause Clark-Baraitser syndrome/TRIP12-related neurodevelopmental disorder, frequently involving intellectual disability, autism and speech/language impairment. TRIP12 was identified as a high-confidence finding in a CAS cohort.
UPF2
Plays an important role in RNA quality control through nonsense-mediated mRNA decay. Variants have been associated with neurodevelopmental disorders involving developmental and communication difficulties. UPF2 was identified in one of the major CAS gene-discovery cohorts
ZNF142
Encodes a zinc-finger protein involved in regulating gene activity. Pathogenic variants can cause a neurodevelopmental disorder characterised by developmental delay, intellectual disability and substantial speech impairment. Evidence supporting an association with CAS is currently considered moderate.
Resources linking genetics and speech apraxia
GeneReviews – FOXP2-Related Speech and Language Disorder
Detailed clinical information about FOXP2-related speech and language disorder, including CAS, inheritance, diagnosis, management and genetic counselling.
OMIM – Online Mendelian Inheritance in Man
Professional database for looking up individual genes and genetic disorders. Useful when investigating genes associated with CAS
Orphanet
International information resource for rare diseases and genetic syndromes, including clinical descriptions, genes and specialist services.
Unique – Rare Chromosome Disorder Support Group
UK organisation providing family-friendly guides and support for people affected by rare chromosome and gene disorders.
Gene people
UK charity supporting people and families affected by genetic conditions and providing understandable information about genetics.
Genetic Alliance UK
UK organisation providing information, advocacy and support relating to genetic, rare and undiagnosed conditions.
NHS Genomics Education Programme
NHS educational resource covering genetics and genomics for healthcare professionals. Includes extensive free learning material.
GeNotes
Free NHS genomics reference designed for healthcare professionals. Helps clinicians recognise when a presentation may have a genetic basis and understand genomic testing pathways.
Genomics 101
Short NHS learning resources introducing fundamental concepts in genetics and genomics. Particularly suitable for SLTs wanting a basic introduction.
Wellcome Connecting Science – Genomics Courses and Resources
Wellcome Connecting Science – Genomics Courses and Resources
Educational resources and courses covering genomics, genetic variation and genomic medicine. Useful for professionals wanting to develop their knowledge further.
MedlinePlus Genetics
Wellcome Connecting Science – Genomics Courses and Resources
MedlinePlus Genetics
Free, accessible explanations of genes, chromosomes, inheritance and genetic conditions. Particularly useful for families who find professional genetics resources too technical.