Isolated childhood apraxia of speech

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ORPHA:209908OMIM:602081F80.0
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Overview

Isolated childhood apraxia of speech (CAS), also known as developmental verbal dyspraxia or developmental apraxia of speech, is a rare neurological speech sound disorder that affects a child's ability to plan and coordinate the precise movements needed for speech production. Unlike other speech disorders caused by muscle weakness or paralysis, CAS involves a disruption in the brain's motor planning pathways that control the sequencing and timing of movements of the lips, tongue, jaw, and palate required for intelligible speech. The disorder primarily affects the nervous system's speech-motor programming centers. Key clinical features include inconsistent speech sound errors, difficulty achieving and maintaining articulatory configurations, inappropriate prosody (especially in the realization of lexical or phrasal stress), groping or searching oral movements when attempting speech, limited consonant and vowel repertoire, and significant gaps between receptive language abilities (which are often relatively preserved) and expressive speech abilities. Children with CAS may say the same word differently each time they attempt it, and longer or more complex words and phrases are typically more difficult to produce. Some children may also exhibit fine and gross motor coordination difficulties, though the speech impairment is the defining feature. There is no cure for isolated childhood apraxia of speech, but early and intensive speech-language therapy is the cornerstone of management. Evidence-based treatment approaches focus on improving motor planning and programming for speech through frequent, intensive practice of speech movements, often incorporating multisensory feedback (tactile, visual, and auditory cues). Approaches such as Dynamic Temporal and Tactile Cueing (DTTC), the Nuffield Dyspraxia Programme, and Rapid Syllable Transition Treatment (ReST) have shown effectiveness. Some cases of CAS have been associated with variants in the FOXP2 gene, though many cases remain idiopathic. Prognosis varies depending on severity and the intensity of intervention, but many children make significant progress with appropriate therapy.

Also known as:

Clinical phenotype terms— hover any for plain English:

Expressive language delayHP:0002474Incomprehensible speechHP:0002546Deficit in grammarHP:0006977Receptive language delayHP:0010863Speech apraxiaHP:0011098Abnormal prosodyHP:0031434Abnormal caudate nucleus morphologyHP:0002339Caudate atrophyHP:0002340Poor gross motor coordinationHP:0007015Delayed early-childhood social milestone developmentHP:0012434
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated childhood apraxia of speech.

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No specialists are currently listed for Isolated childhood apraxia of speech.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

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Common questions about Isolated childhood apraxia of speech

What is Isolated childhood apraxia of speech?

Isolated childhood apraxia of speech (CAS), also known as developmental verbal dyspraxia or developmental apraxia of speech, is a rare neurological speech sound disorder that affects a child's ability to plan and coordinate the precise movements needed for speech production. Unlike other speech disorders caused by muscle weakness or paralysis, CAS involves a disruption in the brain's motor planning pathways that control the sequencing and timing of movements of the lips, tongue, jaw, and palate required for intelligible speech. The disorder primarily affects the nervous system's speech-motor p

At what age does Isolated childhood apraxia of speech typically begin?

Typical onset of Isolated childhood apraxia of speech is childhood. Age of onset can vary across affected individuals.