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Disease Profile

Childhood apraxia of speech

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CAS; Developmental apraxia of speech; Developmental verbal apraxia;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls.[1] Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech.[2] In many cases, the underlying cause of childhood apraxia of speech is unknown (idiopathic).[1][2][3] Some cases are associated with a known neurological cause (such as intrauterine or early childhood stroke, infection, trauma, brain cancer or tumor resection, traumatic brain injury, etc.), and other cases occur as part of a complex neurobehavioral disorder (such as autism, epilepsy, fragile X syndrome, galactosemia, Rett syndrome, Prader-Willi syndrome or certain types of chromosome abnormalities).[1] In some cases, researchers have found alterations (mutations) in the FOXP2 gene or loss of genetic material involving this gene.[4] Treatment of childhood apraxia of speech involves speech therapy with a speech-language pathologist. Those with more severe cases will require more therapy than those with mild cases.[2] The goal of therapy is to increase speech production and intelligibility. In some cases, augmentative and alternative forms of communication may be needed.[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal speech prosody
0031434
Dysarthria
Difficulty articulating speech
0001260
Expressive language delay
0002474
Grammar-specific speech disorder
0006977
Incomprehensible speech
0002546
Poor fine motor coordination
0007010
Poor speech
0002465
Receptive language delay
0010863
Specific learning disability
0001328
Speech apraxia
0011098
5%-29% of people have these symptoms
Caudate atrophy
0002340
Delayed social development
0012434
Drooling
Dribbling
0002307
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Poor gross motor coordination
0007015
1%-4% of people have these symptoms
Autistic behavior
0000729
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Horizontal eyebrow
Flat eyebrow
Straight eyebrow

[ more ]

0011228
Overfolded helix
Overfolded ears
0000396
Submucous cleft hard palate
0000176
Percent of people who have these symptoms is not available through HPO
Abnormality of the basal ganglia
0002134
Abnormality of the face
Abnormal face
Facial abnormality

[ more ]

0000271
Autosomal dominant inheritance
0000006
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Oromotor apraxia
0007301

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Apraxia of Speech. National Institute on Deafness and Other Communication Disorders (NIDCD). https://www.nidcd.nih.gov/health/voice/pages/apraxia.aspx. Accessed 1/4/2016.
        2. A Beginner’s Start Guide to Childhood Apraxia of Speech (CAS). The Childhood Apraxia of Speech Association of North America. https://www.apraxia-kids.org/guides/family-start-guide/. Accessed 1/4/2016.
        3. Childhood Apraxia of Speech. American Speech-Language-Hearing Association. https://www.asha.org/Practice-Portal/Clinical-Topics/Childhood-Apraxia-of-Speech/. Accessed 1/4/2016.
        4. Morgan A, Fisher SE, Scheffer I, et al. FOXP2-Related Speech and Language Disorders. GeneReviews. 2017; https://www.ncbi.nlm.nih.gov/books/NBK368474/.