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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
If you would like to take the survey later, you can click on the link at the top "Register at BA"
Speech therapy is a form of therapy performed by a speech-language pathologist (SLP), who is responsible for the evaluation, prevention, intervention and study of communication disturbances (speech, written and non-verbal) and swallowing disorders. Anyone who aims to treat these types of disorders can benefit from speech therapy, from newborns to the elderly, improving their quality of life.

The SLP can act at several different levels:

Communication/Language (written and spoken) - It can be limited in children and adults by disturbances/delays in development, after a stroke or traumatic brain injury, neurodegenerative diseases, etc. The SLP can intervene in the acquisition or rehabilitation of speech and implement an enhancing and/or alternative communication system for both speech, writing and reading.

Articulation - The production of sounds and phonemes. In order to correctly articulate the sounds of any language, the face and mouth muscles must be healthy. Disorders such as tongue thrust and macroglossia can interfere with this aspect of speech.

Voice - Changes in vocal quality can indicate disturbances at the structural or movement level of the vocal cords, which can be corrected, depending on their origin.

Fluency - Which consists on the ability to connect sounds during speech in a continuous way, in order to produce a fluent, paused and rhythmic speech.

Swallowing - It can be disordered in such a way that eating needs extra care. In particular, people with achondroplasia who have macroglossia, tongue positioning can help make swallowing safer, as well as sleeping and speaking.

Face and mouth motricity - It is related to the development, perfecting and rehabilitation of the speech organs (tongue, palates, vocal cords, lips, etc.) and the cervical region, as well as their functions (eating, speaking and breathing) [1, 2].

In achondroplasia hearing loss due to recurrent otitis media and Eustachian tube dysfunction, macroglossia, tongue thrust, mouth size/proportions, and muscle hypotonicity are the main causes for speech delay and incorrect articulation. Macroglossia in particular can interfere with tongue tip sounds and can obstruct the airways, making sleeping and breathing more difficult [3].

The SLP's intervention should start as early as possible, to prevent and minimize the predicted difficulties and delays associated to achondroplasia. ALPE Foundation published a document with exercises that can be done at home to improve tongue motility and positioning, as well as other parameters of speech, which can be consulted here.


  1. Associação Portuguesa de Terapeutas da Fala. "áreas de intervenção." Retrieved 12/01, 2018.
  2. American Speech-Language-Hearing Association. "Speech-Language Pathologists." Retrieved 12/01, 2018.
  3. Kummer, A. W. Oropharyngeal Anomalies: Effects on Speech and Resonance - How what’s in the mouth affects what comes out of it!, Cincinnati Children's Hospital.
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