Disease

SPEECH LANGUAGE DISORDER

(APRAXIA, DYSPRAXIA)

Brief Summary

Source

Image:

Affected child undergoing a checkup

A condition marked by extreme orofacial dyspraxia that results in speech that is essentially incomprehensible.

Frequency

The total frequency of apraxia appears to be 1 to 2 in 1,000 individuals. In the Philippines, it is the most common childhood disability, affecting this disorder affects 1% to 32% of the population.

the most common of childhood disabilities and affect about 1 in 12 children or 5% to 8% of preschool children

Inheritance

Speech-language disorder is inherited in an autosomal dominant manner.

History of Disease

The speech-language disorder was first reported in the scientific literature in April 1990. The paper was published by Hurst, Baraitser, Auger, Graham, and Norel in their study “An extended family with a dominantly inherited speech disorder”. A family with 16 members spanning 3 generations had a severe developmental verbal dyspraxia with normal hearing and intelligence. Inheritance was autosomal dominant, with full penetrance. Intelligence and hearing are normal.

Brief Summary

History of Disease

Pathogenesis

Achondroplasia is caused by a mutation in the FGF3 gene in chromosome 4 at 4p 16.3. This mutation causes a decreased production of fibroblast growth factor receptor 3 which is crucial in the conversion of cartilage into bone which is vital in the proper development of a person. This mutation is inherited in an autosomal dominant manner. More than 80 percent of people with achondroplasia have parents with normal characteristics and are born with achondroplasia due to a recent (de novo) gene modification (mutation).

Pathogenesis

Speech and language abnormality (SPCH1) is caused by heterozygous mutation in the FOXP2 gene (605317) on chromosome 7q31.

Source

Image:

Location of FOXP2 gene on chromosome 7

Symptoms

Inability to produce smooth, fluent speech; an interruption in the smooth flow of speech as by a pause or the repetition of a word or syllable.

Having difficulties in automatically and accurately sequencing speech sounds into syllables, syllables into words, and words into sentences with the correct prosody

Difficulty planning or programming oral movements on command

Reading and spelling impairments

More preserved non-verbal IQ compared to verbal IQ

Making words longer, tension in the voice or sounds

Frustration with attempts to communicate

Head jerking while talking

Difficulty coughing, sneezing, and/or clearing their throats

Brain imaging of patients with speech-language disorder exhibits functional defects in the cortical and subcortical motor-related areas of the frontal lobe. Structural abnormalities in the basal ganglia, especially caudate, can also be observed.

Social Concerns

With speech-language disorder, social challenges arise for diagnosed patients. This is due to their inability to properly express themselves and difficulty interacting with peers even in small groups. This would then lead to limited social interactions with peers, and hence, temporarily or permanently hinder the development of pragmatic language skills. Thus, patients with speech-language disorder will also encounter difficulties with "pragmatics" which is also known as the social use of language.

Treatment

Biochemical techniques use for diagnosis of SPCH1 are:

Chromosomal microarray analysis (CMA)
Sequence analysis
Methylation testing (to detect UPD)
Karyotype (to detect structural variants)

Available clinical treatment:

Speech-language disorder caused by genetic abnormalities has no cure but with appropriate, intensive intervention, people with the disorder can improve significantly. Speech therapy can manage speech-language disorder and could help with more severe symptoms or any speech problems that do not improve.

Source

Image:

Speech therapy to manage the disorder

Clinical Trials

Title:

Effect of mCIMT Casting on Speech-language Outcomes in Children With Hemiparesis

Intervention:

Behavioral: Speech-language therapy (SLT)

Phase:

Not applicable

Procedure:

Age-appropriate play activities with speech-language pathologist (SLP) to elicit speech, using stimulation strategies including but not limited to recasts, expansion, parallel talk, interactive modeling, communication temptations, and phrase completions. Activities will include an age-appropriate story, pretend play (i.e., house with people, playing with a baby doll), an assembly task (i.e., building blocks, making pretend pizza), and a highly motivating, clinician-controlled activity (i.e., blowing bubbles, swinging, pushing cars down a ramp).

Goals:

The goal of this project is to investigate whether combining mCIMT with speech and language treatment (SPT) will enhance speech outcomes when compared with SPT alone. We will examine (1) whether it is feasible and effective to deliver (SPT) and mCIMT simultaneously, and (2) whether providing mCIMT simultaneously with SPT leads to greater gains in speech-language outcomes than SPT alone? Such information could add valuable evidence-based treatment options for children with hemiplegia and comorbid speech-language deficits, change the way in which we plan patients' care, and help justify co-treating patients who get mCIMT. We hypothesize that forced use of the impaired limb in therapeutic tasks would have spread effects resulting in increased rate of speech-language improvement during treatment intervals when the patient is casted.

Further details at:

https://clinicaltrials.gov/ct2/show/NCT04259814?cond=Speech+Language+Disorder&draw=2&rank=3

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