Table 6. [Treatment of Manifestations in Individuals with Mucopolysaccharidosis Type III]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Seizures	ASM as determined by neurologist
Neurodevelopmental delays	Supportive therapies (e.g., speech therapy, PT, OT)
Psychiatric/ behavioral issues	Treatment as determined by psychiatrist Creation of physically safe environment at home	Behavioral therapy is unlikely to be effective, especially since any improvements are often lost w/disease progression. Risperidone can be considered for treatment of hyperactivity [Kalkan Ucar et al 2010]. Antipsychotic drugs may also be effective.
Sleep disorders	Consider use of melatonin or other medication [Mahon et al 2014]. Consider polysomnogram if suspicion of sleep apnea.	Treating sleep disorders is, overall, difficult. Consider referral to pulmonologist if concern for sleep apnea. Home modifications may be helpful for children to avoid falls or injuries at night.
Musculoskeletal manifestations	Treatment as determined by orthopedist PT or hydrotherapy for joint stiffness Vitamin D therapy in the context of low BMD [Nur et al 2017]	Decisions about surgical intervention should be made in the context of disease course & quality of life. Therapies may be useful, but should not be intensive, especially if they cause pain.
Hearing loss	Ear tube insertion or hearing aid use
Recurrent ENT/respiratory infections	Treatment as determined by otolaryngologist Consider airway clearance therapy, particularly in later disease stages.	The importance of routine immunizations & annual influenza vaccines should be emphasized. Pneumococcal vaccine may be considered.
Cardiovascular anomalies	Treatment as determined by cardiologist	Consider bacterial endocarditis prophylaxis for patients w/cardiac abnormalities.
Feeding difficulties w/resulting malnutrition	Gastrostomy tube (G-tube) placement	Difficulty chewing & swallowing, &/or dysphagia are common in later stages of disease. Aspiration may ↑ risk for pulmonary infection.
Visual impairment	Treatment as determined by ophthalmologist
Palliative care specialist	Per palliative care specialist	See Palliative Care.

Manifestation/
Concern

Treatment

Considerations/Other

Seizures

ASM as determined by neurologist

Neurodevelopmental delays

Supportive therapies (e.g., speech therapy, PT, OT)

Psychiatric/
behavioral issues

Treatment as determined by psychiatrist
Creation of physically safe environment at home

Behavioral therapy is unlikely to be effective, especially since any improvements are often lost w/disease progression. Risperidone can be considered for treatment of hyperactivity [Kalkan Ucar et al 2010]. Antipsychotic drugs may also be effective.

Sleep disorders

Consider use of melatonin or other medication [Mahon et al 2014].
Consider polysomnogram if suspicion of sleep apnea.

Treating sleep disorders is, overall, difficult. Consider referral to pulmonologist if concern for sleep apnea. Home modifications may be helpful for children to avoid falls or injuries at night.

Musculoskeletal manifestations

Treatment as determined by orthopedist
PT or hydrotherapy for joint stiffness
Vitamin D therapy in the context of low BMD [Nur et al 2017]

Decisions about surgical intervention should be made in the context of disease course & quality of life. Therapies may be useful, but should not be intensive, especially if they cause pain.

Hearing loss

Ear tube insertion or hearing aid use

Recurrent ENT/respiratory infections

Treatment as determined by otolaryngologist
Consider airway clearance therapy, particularly in later disease stages.

The importance of routine immunizations & annual influenza vaccines should be emphasized.
Pneumococcal vaccine may be considered.

Cardiovascular anomalies

Treatment as determined by cardiologist

Consider bacterial endocarditis prophylaxis for patients w/cardiac abnormalities.

Feeding difficulties
w/resulting malnutrition

Gastrostomy tube (G-tube) placement

Difficulty chewing & swallowing, &/or dysphagia are common in later stages of disease. Aspiration may ↑ risk for pulmonary infection.

Visual impairment

Treatment as determined by ophthalmologist

Palliative care specialist

Per palliative care specialist

See Palliative Care.

From: Mucopolysaccharidosis Type III

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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