Speech Therapy for Sanfilippo Syndrome

Sanfilippo syndrome is a rare genetic disorder related to the metabolism of a large sugar molecule called heparan sulfate. The buildup of heparan sulfate causes damage to the brain and spinal cord. The damage leads to developmental delays including speech impairment. Speech therapy may help some patients living with the disease.

What is speech therapy?

Speech is the process of verbal communication through words and sounds. It incorporates articulation (how we use our mouth, lips, and tongue to shape the sounds), voice (how we use our vocal cords and breath to make sounds), and fluency (the rhythm of speech with correct emphasis).

Speech therapy is the treatment of patients who have trouble with verbal communication. It usually involves exercises to increase strength and coordination of the mouth, throat, and jaw to aid patients with making words and sounds.

Speech problems in children with Sanfilippo

Children with Sanfilippo syndrome have typical language development until around 24 months when they begin to slow down and eventually regress. Regression may be slow or fast.

Despite early language development, children with Sanfilippo syndrome usually have delayed speech. Many children have imprecise articulation. Some children may not develop speech at all.

Hearing impairment also is common in children with Sanfilippo syndrome, which could interfere with their speech and language development.

What to expect at a speech therapy appointment

During the first appointment, a speech-language pathologist (SLP) will evaluate your child’s strength, coordination, and range of motion in their mouth, jaw, and neck. The therapist will discuss what issues your child has been having and how their condition will affect their speech development.

Since children with Sanfilippo syndrome have delayed speech development, which eventually will begin to regress, the SLP will work with you to set some goals for the development and retention of speech for as long as possible.

After the initial assessment and goal-setting, the SLP will guide you and your child through some exercises they can practice at home. The exercises may include playing games, singing songs, or reading books aloud, depending on their age.

What should I bring to an appointment?

You should bring information about what medications your child is taking and their past medical history to the appointment.

You also should bring a list of questions that you may have to ask the SLP. Make sure to bring a notebook to take notes during the session.

Last updated: Nov. 3, 2020

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Sanfilippo Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.