Childhood apraxia of speech

Title

Other Names:

CAS; Developmental apraxia of speech; Developmental verbal apraxia; CAS; Developmental apraxia of speech; Developmental verbal apraxia; Developmental verbal dyspraxia; DAS; Articulatory apraxia; Speech and language disorder with orofacial dyspraxia; Speech-language disorder type 1; Speech-language disorder-1 See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary 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]

Last updated: 5/30/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the basal ganglia	-
Abnormality of the face	-
Autosomal dominant inheritance	-
Delayed speech and language development	-
Incomprehensible speech	-
Oromotor apraxia	-

Last updated: 9/1/2017

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Childhood apraxia of speech. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

American Speech-Language-Hearing Association (ASHA)
2200 Research Boulevard
Rockville, MD 20850-3289
Toll-free: 800-638-8255
Telephone: 301-296-5700
TTY: 301-296-5650
Fax: 301-296-8580
E-mail: http://www.asha.org/Forms/National-Office-Contact-Form/
Website: http://www.asha.org/
Childhood Apraxia of Speech Association of North America (CASANA)
416 Lincoln Avenue 2nd Fl.,
Pittsburgh, PA 15209
Website: http://www.apraxia-kids.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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

The American Speech-Language-Hearing Association has an information page that discusses Childhood apraxia of speech on their Web site. Click on the link to view this information page.
The Center for Parent Information and Resources has a page on Speech and Language Impairment which includes information about Childhood apraxia of speech. Click on the link to view this information.
The Childhood Apraxia of Speech Association of North America (CASANA) has a resource called the Family Start Guide which has information about Childhood apraxia of speech. Click on the link to access this information.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic.

In-Depth Information

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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

Related Diseases Related Diseases

The following diseases are related to Childhood apraxia of speech. If you have a question about any of these diseases, you can contact GARD.

Apraxia

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References References

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