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Oral motor dysfunction and feeding difficulties in nephropathic cystinosis
D A Trauner1, R F Fahmy, D A Mishler
1Department of Neurosciences, UCSD School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093-0935, USA.
Pediatric Neurology
|August 23, 2001
Summary
Nephropathic cystinosis in children often causes feeding and oral motor issues. These problems correlate with broader neurological dysfunction, suggesting early signs of disease progression.
Area of Science:
- Pediatric Genetics
- Neurology
- Lysosomal Storage Disorders
Background:
- Nephropathic cystinosis is a genetic disorder causing lysosomal cystine accumulation and multiorgan dysfunction.
- Adults with cystinosis exhibit progressive neuromuscular issues, including bulbar and upper extremity weakness.
Purpose of the Study:
- To investigate early bulbar involvement in children with nephropathic cystinosis, indicated by feeding difficulties and oral motor dysfunction.
- To assess the association between feeding/oral motor problems and other neurological deficits.
Main Methods:
- Twenty-two children and adolescents with nephropathic cystinosis were evaluated.
- Parental questionnaires addressed feeding history and oral motor issues.
- Oral motor and comprehensive neurologic examinations were performed.
Main Results:
- A majority of children experienced feeding difficulties, with seven requiring gastrostomy tubes.
- Oral motor exam revealed hypotonia, abnormal gag reflex, and throaty voice.
- Neurologic exams showed hypotonia, muscle weakness, motor dysfunction, and ataxia.
Conclusions:
- Feeding difficulties and oral motor dysfunction are prevalent in pediatric cystinosis.
- These issues correlate with the overall degree of neurological dysfunction.
- Further research is needed to determine if early oral motor problems predict adult myopathy.