Data_Sheet_1_Remote data collection speech analysis in people at risk for Alzheimer's disease dementia: usability and acceptability results.docx

IntroductionDigital cognitive assessments are gathering importance for the decentralized remote clinical trials of the future. Before including such assessments in clinical trials, they must be tested to confirm feasibility and acceptability with the intended participant group. This study presents usability and acceptability data from the Speech on the Phone Assessment (SPeAk) study.MethodsParticipants (N = 68, mean age 70.43 years, 52.9% male) provided demographic data and completed baseline and 3-month follow-up phone based assessments. The baseline visit was administered by a trained researcher and included a spontaneous speech assessment and a brief cognitive battery (immediate and delayed recall, digit span, and verbal fluency). The follow-up visit repeated the cognitive battery which was administered by an automatic phone bot. Participants were randomized to receive their cognitive test results acer the final or acer each study visit. Participants completed acceptability questionnaires electronically acer each study visit.ResultsThere was excellent retention (98.5%), few technical issues (n = 5), and good interrater reliability. Participants rated the assessment as acceptable, confirming the ease of use of the technology and their comfort in completing cognitive tasks on the phone. Participants generally reported feeling happy to receive the results of their cognitive tests, and this disclosure did not cause participants to feel worried.DiscussionThe results from this usability and acceptability analysis suggest that completing this brief battery of cognitive tests via a telephone call is both acceptable and feasible in a midlife-to-older adult population in the United Kingdom, living at risk for Alzheimer's disease.</p

Clinical features of study subjects with 20q13.33 microdeletions.

<p>“+”: feature present; “-”: feature absent; DD: developmental delay; DF: dymorphic features; MRI: magnetic resonance imaging; NA: not available; *patient is deceased.</p

Molecular findings of study subjects with 20q13.33 microdeletion.

<p>Molecular findings of study subjects with 20q13.33 microdeletion.</p

Microarray-based characterization of microdeletions at 20q13.33.

<p>(<b>A–F</b>) Microarray results for study subjects 1–6, respectively. Study subject 1 was analyzed using a SNP microarray; study subjects 2–6 were analyzed using an oligonucleotide CGH-based array. For study subject 1, Copy Number Analyser for GeneChip (CNAG) version 3.0 <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0012462#pone.0012462-Nannya1" target="_blank">[30]</a> was used for the analysis. For study subjects 2–6, results were visualized using custom aCGH analysis software (Genoglyphix; Signature Genomic Laboratories). Study subject 5 had a concurrent duplication at 20q13.33 (<b>E</b>). Probes are arranged with the most proximal 20q13.31 probes on the left and the most distal 20q13.33 probes on the right. (<b>G</b>) Schematic representation of deletions in study subjects 1–6 and in previously reported study subjects. Blue boxes represent genes of interest within the region.</p

Dysmorphic features in individuals with microdeletions at 20q13.33.

<p>(<b>A,B</b>) Study subject 1 at age 8 years. No dysmorphic facial features were noted. (<b>C</b>) Study subject 2 at age 4 years. Note bitemporal narrowing, bulbous nose, and upslanting palpebral fissures. (<b>D</b>) Study subject 3 at age 3 years 3 months. Note bifrontal prominence, prominent forehead, triangular shape, mild hypertelorism, epicanthal folds, and ptosis. (<b>E</b>) Hand of study subject 2.</p

Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants are grouped together. Inheritance has been indicated where familial samples were available: negative indicates negative for variant and N/A sample not available. De novo events have only been noted where both parental samples were available and found to be negative for the change. Previously reported refers to a variant being described in either ClinVar, HGMD, or a publication in a peer-reviewed journal via a PubMed search. Variants were classified consistent with previous MPS publications of DSD cohorts [8, 10] which were based on ACMG guidelines [15]. VUS were called for three reasons: 1 = fits phenotype but predicted to be benign; 2 = damaging but doesn’t fit phenotype; or 3 = variant in the AR repetitive region. Patients marked with an asterisk were identified to have two or more diagnostic gene variants. Null variants (frameshifts, splice sites mutations, and premature stop codons) are shown in bold. Patients have been classified based on clinical notes provided, according to the recommended classification of DSD in the Chicago consensus report. Classifications: CGD complete gonadal dysgenesis, DASA disorders of androgen synthesis or action, DSD DSD of “unknown” origin; hypospadias, LCH Leydig cell hypoplasia, OT ovotesticular DSD, PGD partial gonadal dysgenesis, PMDS persistent Müllerian duct syndrome; syndromic, T testicular DSD. Related affected individuals are indicated. File is in Excel spreadsheet format. (XLSX 47 kb