Rare Pulmonology News
Disease Profile
Childhood apraxia of speech
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.
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Age of onset
Childhood
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
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 | |
|
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 |
| 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
-
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: https://www.asha.org/Forms/National-Office-Contact-Form/
Website: https://www.asha.org/ -
Childhood Apraxia of Speech Association of North America (CASANA)
Cardello Building
1501 Reedsdale Street, Suite 202
Pittsburgh, PA 15233
Telephone: +1-412-785-7072
E-mail: [email protected]
Website: https://www.apraxia-kids.org/
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.
- Genetics Home Reference (GHR) contains information on Childhood apraxia of speech. This website is maintained by the National Library of Medicine.
- 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
- 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
- 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.
- 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.
- 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.
- Morgan A, Fisher SE, Scheffer I, et al. FOXP2-Related Speech and Language Disorders. GeneReviews. 2017; https://www.ncbi.nlm.nih.gov/books/NBK368474/.