Orthodontic care benefits young girl with infantile Pompe disease
Case report details how treatment resolved speech, swallowing problems
Orthodontic treatment successfully addressed speech and swallowing problems in a young girl with infantile-onset Pompe disease (IOPD), according to a case report from Italy.
“The approach outlined in this paper serves as an illustrative example of orthodontic treatment for addressing speech and swallowing difficulties in patients with Pompe Disease,” researchers wrote in the case study, “Results of orthodontic procedure in a patient with classic infantile Pompe disease,” which was published in the Italian Journal of Pediatrics.
Infantile Pompe disease is more severe form
Pompe disease is a genetic disorder characterized by a deficiency in the acid alpha-glucosidase enzyme, which results in the accumulation of glycogen, a complex sugar molecule, within cells. Eventually, glycogen reaches toxic levels, causing damage to various organs, including the heart, skeletal muscles, liver, and nervous system.
IOPD refers to patients with little to no enzyme activity, with the disease emerging in the first year of life and typically being more severe than when it appears later in life. Individuals with some enzyme activity typically have less severe late-onset Pompe disease, which usually develops between childhood and adulthood.
Muscles around the face and neck can also be affected, leading to impairments in speech, swallowing, and hearing. Weakness in these muscles can persist even in patients treated since birth with high doses of enzyme replacement therapy (ERT), which provides patients with a lab-made source of the enzyme.
“Even in patients with a good response to [ERT], weakness of orofacial muscles persists, and it has a great impact on daily life in terms of school and social activities,” wrote researchers in Italy who described the case of a 7-year-old girl with IOPD who was experiencing speech and swallowing difficulties.
Parents say treatment improved girl’s quality of life
At 10 months old, tests revealed hypertrophic cardiomyopathy, or a thickening of the heart muscle, which is a common early sign of IOPD. She also had an enlarged liver (hepatomegaly), low muscle tone in the trunk (axial) muscles, and poor facial expression.
Genetic analysis revealed two severe mutations in the gene that encodes the acid alpha-glucosidase enzyme, confirming a diagnosis of IOPD. She was promptly treated with ERT at 11 months at 20 mg/kg/week. Due to an incomplete response at about 2 years of age, including the development of clubfeet, the dose was increased to 40 mg/kg/week.
As a consequence of weakness in facial and neck muscles, she progressively developed swallowing problems and hypernasality, or too much airflow through the nasal cavity when speaking.
At the age of 7, she was referred to an orthodontist for an examination of her mouth. She had a mild open bite, when the upper and lower front teeth don’t make contact when the mouth is closed, and signs of an altered tongue position during swallowing. Her third molars were missing, and she had maxillary transverse deficiency, a condition marked by an underdeveloped upper jaw in terms of width.
While developing a standardized technique may not be feasible at present due to the variations in orofacial characteristics among children with Pompe Disease, incorporating orthodontic care early in its management can significantly improve functional and quality-of-life outcomes for these patients
To improve bite, she underwent a rapid maxillary expansion using a personalized expander device to widen the upper jaw. The device was expanded once daily for 26 consecutive days, then left in place for an additional seven months to stabilize the treatment, which was well tolerated.
After the orthodontic intervention, the open bite was resolved, which improved her speech, particularly for plosives (“p”, “b”, and “t” sounds) and fricatives (“f”, “s”, “v”, and “z” sounds). Her teachers and peers confirmed these improvements, and the patient and her parents reported a marked improvement in her quality of life.
“While developing a standardized technique may not be feasible at present due to the variations in orofacial characteristics among children with Pompe Disease, incorporating orthodontic care early in its management can significantly improve functional and quality-of-life outcomes for these patients,” the researchers concluded.
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