The total prevalence of apraxia is estimated to be 1 to 2 in 1,000 people. Some estimations suggest that Apraxia occurs in approximately 1-2% of the general population. Its occurrence can be more prevalent in certain specific groups, such as individuals with neurodegenerative diseases like Parkinson’s or Alzheimer’s, where the incidence might be higher due to the nature of these conditions affecting speech and motor functions.

Overall, due to the complexities involved in diagnosing and categorising Apraxia, as well as its frequent coexistence with other conditions, determining precise frequency remains a challenge and reliable population-level data for Apraxia incidence and prevalence are still limited.

Moreover, Apraxia is seen in around 50 to 80% of left hemisphere strokes, 30 to 50% of right hemisphere strokes, between 19 and 45% of traumatic brain injuries, about 25% of multiple sclerosis cases and 90% of dementia patients.

While the exact cause behind Apraxia of Speech has remained unknown, scientists claim that the suspected cause is due to a complex interaction between one’s genetic and brain makeup and their environmental influences. However, genetic insights have been gained since the discovery of the ‘FOXP2’ gene which is expressed in the areas of the brain that affects speech and language disorders and is the first gene associated with CAS.

Over 15 years following the groundbreaking discovery of FOXP2, advancements in genetic technologies now offer rapid and cost-efficient genetic testing methods. These innovative tools have unveiled additional genetic pathways associated with Childhood Apraxia of Speech (CAS). CAS may stem from alterations in single genes, like FOXP2 or may be connected to copy number variations (CNVs). CNVs refer to the presence of small or large deletions or duplications within sections of our chromosomes. These variations exist universally among humans. In apraxia specifically, a deletion occurs on chromosomes 7. While many individuals harbour CNVs without apparent physical or health implications, for some, these CNVs can prompt health conditions, including CAS. In contrast, single gene mutations involve interruptions or mutations in a sole gene on a chromosome, directly linked to CAS.

To delve deeper into the pivotal role of FOXP2 in apraxia, it’s important to note that heterozygous FOXP2 pathogenic variants, comprising complete or partial gene deletions, contribute significantly. This underlines the core phenotype associated with FOXP2-Speech and Language Disorder (SLD), prominently recognized as CAS.

There are certain red flags to be aware of if one’s child has apraxia of speech during early development. Being aware of these red flags aids in early intervention as well as diagnosis.

• Limited rise and fall of voice (pitch) when speaking (intonation)
• Words appear then disappear quickly.
• Late Onset of Speech
• Frustration or Strain During Communication
• Pronouncing words limited to those with straightforward syllable structures, typically characterised by a combination of consonants “C” and vowels “V.” A simplified syllable structure encompasses words composed of a single consonant and a single vowel (C-V), exemplified by words like “me” or “up”

Crucial Signs to note between birth and two years – 

• Saying their first consonant after 12 months
• Saying fewer than three consonants by 16 months
• Using a limited number of vowels and consonants
• No velar or posterior sounds where the tongue touches the roof of their mouth (K and D) by 24 months.
• Voicing errors, such as “pie” sounding like “bye”

The symptoms of Childhood Apraxia of Speech vary from child to child. Difficulties with regard to communication is one of the key symptoms.

• Distorting sounds – Misarticulation or alteration of specific sounds, making them unclear or unintelligible

• Difficulty Controlling Speech Movements – They may struggle to coordinate and execute the precise movements required to form sounds, resulting in distorted or unclear speech

• Challenges with Sequencing Sounds – Children may experience difficulty sequencing or arranging sounds in the correct order to form words or syllables

• Limited Repertoire of Sounds – CAS might limit the range of consonants and vowels a child can produce

• Making errors in the tone, stress or rhythm of speech – Children with Childhood Apraxia of Speech (CAS) may struggle not only with articulating individual sounds but also with the overall prosody, intonation, stress patterns, and rhythm of speech. Their speech may lack natural flow or melody, and they might experience difficulties in emphasising or stressing certain syllables

Attempting to say a word several times before saying it correctly – Children with Childhood Apraxia of Speech often demonstrate perseverance in their efforts to say a word accurately. They might make repeated attempts to produce a particular word, sometimes saying it incorrectly multiple times before finally articulating it correctly

After key signs are identified, one should seek professional guidance from a speech-language pathologist. To diagnose the disorder , the SLP will perform various tests, learn about your child’s history as well as advise a structured treatment plan. Genetic testing is also another key aspect to diagnosis of Childhood Apraxia Of Speech. To understand genetic testing in detail, it is crucial to have a major understanding of the genetic basis of apraxia.

FOXP2 is a pivotal gene extensively studied in the realm of speech and language. Variations or mutations within the FOXP2 gene have been linked to language-related challenges, including speech disorders such as Childhood Apraxia of Speech (CAS). This gene assumes a critical role in neural development, particularly contributing to the formation and function of brain regions intricately involved in speech and language processes.

Current research posits that speech disorders, including CAS, likely stem from a complex interplay of multiple genes rather than being solely dictated by a singular gene. Through comprehensive genome-wide analyses, studies have unveiled potential gene networks and pathways intimately associated with impairments in speech and language faculties.

CAS is considered to possess a diverse and heterogeneous genetic foundation, indicating its potential origins from an array of genetic modifications or interactions. These alterations may encompass changes within specific genes related to speech motor control, neural connectivity, or the broader development of brain structures fundamental to speech and language functions.

Genetic testing constitutes a medical examination aimed at detecting alterations in genes, chromosomes, or proteins. The outcomes of such testing serve to affirm or dismiss suspected genetic conditions and aid in assessing an individual’s likelihood of inheriting or developing a genetic disorder. Presently, over 77,000 genetic tests are employed in clinical settings with ongoing advancements in the development of additional tests.

Genetic testing involves looking for changes in:

• Genes: Gene tests study DNA sequences to identify variations (mutations) in genes that can cause or increase the risk of a genetic disorder, in this case Childhood Apraxia of speech. Gene tests can be narrow or large in scope, analysing an individual DNA building block (nucleotide), one or more genes, or all of a person’s genome
• Chromosomes: Chromosomal genetic tests analyse whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome or even a deletion that causes a genetic condition

Proteins: Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a rare genetic disorder.

Genetic testing is often done after an initial genetic consultation. Genetic tests are usually done on blood, skin, hair, amniotic fluid (the fluid surrounding the embryo during pregnancy) or other tissues.

After a sample is taken, it is sent to the laboratory where technicians look for certain changes in chromosomes, DNA, or proteins depending on the suspected genetic disorder. The laboratory reports the test reports to the doctor as well as the genetic counsellor.

Before a genetic test is performed, it is crucial to note the procedure, benefits and limitations as well as possible consequences. Seeking genetic counselling as a prenatal step is necessary.

The principal aim of genetic testing is to identify potential genetic origins contributing to Childhood Apraxia of Speech (CAS). For families navigating the diagnostic process seeking clarity surrounding their child’s CAS, a genetic diagnosis offers valuable insights into the condition’s underlying causes.

Furthermore, certain genetic diagnoses linked with CAS have been extensively studied, revealing associations with other health or neurodevelopmental conditions. These insights inform families and healthcare providers about varying symptom severity and long-term communication outcomes, enabling tailored support strategies based on this knowledge.

As compared to other speech disorders, CAS is more severe and requires a more intense form of treatment.

Seeking therapy from a speech-language pathologist to improve understanding as well as communication abilities is the first major step. Treatment time may vary from child to child depending on onset of speech as well as severity.

Treatment May Include:

• Enrolling in speech-language therapy to address words, syllables, phrases at a pace unique to a particular child
• The speech-language therapist may also collaborate with other professionals such as an occupational therapist, a behavioural therapist depending on the child’s symptoms

Offering support as well as guidance to your child is the best way to move forward. Speech-Language therapy is a must. The child will be participating in one-on sessions with SLP. The regularity of sessions will differ but once or twice a week is needed. It is important for the child to complete homework assignments and practice at home regularly. Following  up with your child’s SLP to keep track of how much your child is improving and offering encouragement along their journey helps.A child who has a positive response to working with a therapist on increasing his/her speech intelligibility has a better prognosis than the child who is resistant or ambivalent towards his/her therapy.

Additionally, children with apraxia do not have the opportunity to interact with peers and adults in a typical way, and so are at greater risk for developing/exhibiting social, behavioural, language, etc. delays and disorders as a ramification of the disorder. Therefore seeking other forms of counselling: occupational therapy, behavioural therapy etc may be required.