A scoring system of swallowing difficulties may be a simple and valuable way of staging neurological decline in infants with type 2 Gaucher disease, which is useful to guide clinical care and evaluate potential therapies, a post-hoc study has found.
The study with the findings, “Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2,” was published in the journal Molecular Genetics and Metabolism.
Gaucher disease (GD) is classified into three types based on the absence or presence, and extent, of neurological complications. Gaucher disease type 1, also known as non-neuronopathic, does not involve the central nervous system (brain and spinal cord), while type 2 and type 3 are marked by neurological complications that develop and progress slower in type 3.
“Currently, there is no clear standard for evaluating, staging, and counseling regarding neurological decline in GD type 2,” researchers emphasized.
Drawing on the high prevalence of swallowing difficulties, or dysphagia, in patients with GD type 2, a team of researchers tried to identify swallow function indicators that could serve as markers of disease progression.
For that purpose, they did a post-hoc analysis of modified barium swallow (MBS) studies — a kind of X-ray imaging to see how food or liquid progresses through the oral cavity during swallowing — which were available for 11 infants with GD type 2, ages 6 weeks to 4 years, who were enrolled in a natural history study (NCT00001215).
MBS is the gold standard for diagnosing patients suspected of dysphagia with a neurological origin.
Six parameters of swallowing were scored — aspiration and/or laryngeal penetration (food or liquid enters the lungs), ability to eat, oral phase dysphagia, head extension, desynchronization (of suck, swallow, and breathing) and vocal/speech development — but only five (vocal/speech development was excluded) had enough data to be used in further analysis.
All patients had swallowing problems, with 10 having oral phase difficulties (food pooling in the mouth), seven experiencing pharyngeal dysphagia (food did not move swiftly through the pharynx), and eight having aspiration/penetration issues.
Researchers then performed a series of analyses to determine how accurate MBS-based swallowing scores could be as a proxy for neurological decline.
First, no significant association was noted between swallowing scores and patients’ age, supporting the clinical observation that rate of neurological decline is not associated with age in GD type 2 patients.
Further, the results indicated that a large part of how much swallowing difficulties varied among patients could be explained by how they scored.
Actually, scores of four of the parameters — ability to eat, aspiration, oral phase dysphagia, and desynchronization — could identify two disease states — state 1 (milder) and state 2 (more severe). According to the researchers, state 2 appears to represent “end-stage disease.”
Swallowing scores could also give an idea of whether a patient was in the process of transitioning from state 1 to state 2.
“By evaluating the MBS using this five-parameter scoring system, the physician and speech-language pathologist can provide important objective insights that can help to guide clinical care,” researchers stated.
They stressed the systems may also work as “an additional prognostic tool to assess neurological function when physical examination alone may not fully reflect the trajectory of the clinical course.”
“Since this five-parameter scoring system assesses swallow function as a proxy for neurological decline, it can also be used to inform studies for other infantile neurodegenerative disorders and provide new insights into disease progression,” they concluded.