Dataset Information

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

ABSTRACT: Oro-pharyngeal dysphagia commonly occurs in patients with infantile onset Pompe disease (IOPD), which is a rare recessive neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. Without treatment, death occurs by 1 year of age from cardiorespiratory failure. Enzyme replacement therapy (ERT) has been used to increase life expectancy, however emerging developmental and medical morbidities have become apparent. A case file review of the feeding outcomes of 12 patients with IOPD, managed at a single tertiary centre, was undertaken. Two types of assessment had been completed: clinical feeding assessment (CFA) and instrumental videofluoroscopy swallow study (VFSS). A rating of functional oral intake at every Speech and Language Therapy feeding assessment from initial diagnosis to the most recent assessment was applied using the functional oral intake scale (FOIS).Results indicate, initial diagnosis VFSS predicts long-term feeding outcomes. Even if a patient had an improvement in oral feeding after diagnosis, over a period of time their oral intake returned to the initial diagnosis VFSS level or below. All patients (8/8) who required non-oral feeding support under 6 months of age went on to require non-oral feeding support, even if they had periods of full oral feeding. CRIM negative status predicted significant oral feeding difficulties. An evidence-based follow-up protocol was developed. The information is used at diagnosis to counsel families regarding feeding prognosis and consideration of early gastrostomy when cardiac status allows safe anaesthesia. The results reinforce that feeding changes over time and patients require on-going dysphagia monitoring.

SUBMITTER: Swift G

PROVIDER: S-EPMC5413449 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Swift Gyani G Cleary Maureen M Grunewald Stephanie S Lozano Sonia S Ryan Martina M Davison James J

JIMD reports 20160626

Oro-pharyngeal dysphagia commonly occurs in patients with infantile onset Pompe disease (IOPD), which is a rare recessive neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. Without treatment, death occurs by 1 year of age from cardiorespiratory failure. Enzyme replacement therapy (ERT) has been used to increase life expectancy, however emerging developmental and medical morbidities have become apparent. A case file review of the feeding outcomes of 12 pat ...[more]

PMID: 27344650

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Project description:BACKGROUND:Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in Thailand. METHODS:Twelve patients with infantile-onset Pompe disease (IOPD) including 10 Thai and two other Asian ethnicities were enrolled. To examine the molecular characteristics of Pompe patients, GAA gene was analyzed by PCR amplification and direct Sanger-sequencing of 20 exons coding region. The novel mutations were transiently transfected in COS-7 cells for functional verification. The severity of the mutation was rated by study of the GAA enzyme activity detected in transfected cells and culture media, as well as the quantity and quality of the proper sized GAA protein demonstrated by western blot analysis. The GAA three dimensional structures were visualized by PyMol software tool. RESULTS:All patients had hypertrophic cardiomyopathy, generalized muscle weakness, and undetectable or?<?1% of GAA normal activity. Three patients received enzyme replacement therapy with variable outcome depending on the age of the start of enzyme replacement therapy (ERT). Seventeen pathogenic mutations including four novel variants: c.876C?>?G (p.Tyr292X), c.1226insG (p.Asp409GlyfsX95), c.1538G?>?A (p.Asp513Gly), c.1895?T?>?G (p.Leu632Arg), and a previously reported rare allele of unknown significance: c.781G?>?A (p.Ala261Thr) were identified. The rating system ranked p.Tyr292X, p. Asp513Gly and p. Leu632Arg as class "B" and p. Ala261Thr as class "D" or "E". These novel mutations were located in the N-terminal beta-sheet domain and the catalytic domain. CONCLUSIONS:The present study provides useful information on the mutations of GAA gene in the underrepresented population of Asia which are more diverse than previously described and showing the hotspots in exons 14 and 5, accounting for 62% of mutant alleles. Almost all mutations identified are in class A/B. These data can benefit rapid molecular diagnosis of IOPD and severity rating of the mutations can serve as a partial substitute for cross reactive immunological material (CRIM) study.

Dataset Information

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Publications

Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

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