title: A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease.
abstract: Type III Gaucher disease is one of the three recognized subtypes of Gaucher disease, an inherited deficiency of lysosomal glucocerebrosidase. Phenotypically there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, the neurological manifestations remain a more challenging obstacle. There is an unfulfilled need to reliably monitor neurological disease and its response to treatment. A severity scoring tool was developed through neurological domain identification, item generation and tool formation. Domain identification was established based on a retrospective single centre study (n = 15) and a systematic review of publications. Forty-seven patients with neuronopathic Gaucher disease were then assessed using the tool to establish the clinical and statistical reliability of each domain. Judgement quantification of the tool was established through a process of content validity involving five European experts. Content validity is considered to be most effective when undertaken systematically. Concurrent validity and feasibility of the tool was also highlighted. This process allowed a revised and validated version of the tool to be developed.
authors: Metabolic Medicine, Great Ormond Street Hospital NHS Trust Biochemistry Research Group, Clinical & Molecular Genetics Unit, University College London Institute of Child Health, London, UK. E.Davies@ich.ucl.ac.uk
authors: E H
authors: EH
authors: Davies
authors: R
authors: R
authors: Surtees
authors: C
authors: C
authors: DeVile
authors: I
authors: I
authors: Schoon
authors: A
authors: A
authors: Vellodi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005060:Europe; D005240:Feasibility Studies; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D010865:Pilot Projects; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012720:Severity of Illness Index; D016896:Treatment Outcome