Development of an International SMA Bulbar Assessment for Inter-professional Administration.

BACKGROUND: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits in SMA impedes the ability to monitor function, facilitate intervention, or detect treatment response. OBJECTIVE: To fill this void, an international multidisciplinary team gathered to develop an agreed upon consensus-derived assessment of bulbar function in SMA for inter-professional administration to enhance our ability to monitor disease progression, support clinical management, and evaluate treatment effects. METHODS: Fifty-six international clinicians experienced in SMA were invited and engaged using the Delphi method over multiple rounds of web-based surveys to establish consensus. RESULTS: Serial virtual meetings occurred with 42 clinicians (21 speech and language therapists, 11 physical therapists, 5 neurologists, 4 occupational therapists, and 1 dentist). Seventy-two validated assessments of bulbar function were identified for potential relevance to individuals with SMA (32 accessible objective, 11 inaccessible objective, 29 patient-reported outcomes). Delphi survey rounds (n = 11, 15, 15) achieved consensus on individual items with relevance and wording discussed. Key aspects of bulbar function identified included: oral intake status, oral facial structure and motor strength, swallowing physiology, voice & speech, and fatigability. CONCLUSIONS: Multidisciplinary clinicians with expertise in bulbar function and SMA used Delphi methodology to reach consensus on assessments/items considered relevant for SMA across all age groups. Future steps include piloting the new scale moving towards validation/reliability. This work supports the advancement of assessing bulbar function in children and adults with SMA by a variety of professionals.

Long-Term Follow-Up Study of Young Adults Treated for Unilateral Complete Cleft Lip, Alveolus, and Palate by a Treatment Protocol Including Two-Stage Palatoplasty: Speech Outcomes.

BACKGROUND: No consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP). METHODS: This was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ≥17 years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation. RESULTS: Forty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years). Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (P<0.001). In total, 36% showed mild to moderate hypernasality during the speech assessment, and 11%-17% of the patients exhibited increased nasalance scores, assessed through nasometry. CONCLUSIONS: The present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence.

Screening Solid Foods Infants 1 (SSFI-1) development of a screening tool to detect problems in the transition from milk to solid food in infants from six to nine months of age.

AIM: To establish the psychometric properties of a newly developed screening tool Screening Solid Foods Infants 1 (SSFI-1) used by early childhood professionals, to detect problems in the transition from milk to solid food of smooth consistency in infants 6-9 months of age. METHODS: The SSFI-1 score was filled out by the parents of a subgroup with term infants (n=35); healthy preterm infants (n=26); infants with comorbidity (n=17); infants with feeding problems (n=13). Internal consistency, reproducibility, construct, criterion and related validity was evaluated. RESULTS: The preterm subgroup differed significantly in age when starting with fruits/vegetables and period of experience (p<0.01). The SSFI-1 was sufficiently reliable for the total group and term subgroup (α=0.78 and 0.76), but not for the preterm and comorbidity/feeding problem subgroup (α=0.51 and 0.69). Inter-rater reliability was high for the total score (n=25, ICC r=0.93), and moderate to good for individual items (weighted kappa range 0.55-0.95). Validity was confirmed by significantly higher scores for the comorbidity/feeding problem subgroups and clinically distinguishable subgroups (p<0.05) and area under the curve values>0.78. The initial 10-item screening tool was modified to a seven item screening tool. A SSFI-1 score of 4, +2 SD of the term subgroup, had 76.9% sensitivity and 82.1% specificity, for detecting the presence of a feeding problem. CONCLUSION: The seven-item screening tool Screening Solid Foods 1 may be used as a screening tool for term infants. Further testing of the SSFI-1 in new infants is needed, to confirm reliability and validity both for term, preterm and (risk for) feeding problem infants.