SATB2‐associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding‐related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals with SAS were mostly non‐verbal communicators (72.1%) with severe deficits in both language comprehension and expression. The majority of individuals had receptive vocabulary skills of a child younger than 3 years of age. Based on parent report, the average spoken lexicon was 28.6 (SD = 84.6, n = 55) with a range of 0 to 500 (median = 5 words). All of the individuals with SAS with enough verbal ability either showed signs of childhood apraxia of speech or already had a diagnosis (n = 40) and 73.3% exhibited problems with reliable communication with unfamiliar partners. Hypernasal resonance (17.8%) due to velopharyngeal insufficiency secondary to a history of cleft palate and/or apraxic palatal movement (60.0% of hypernasal patients with no history of cleft palate), problems with chewing (68.2%), overstuffing the mouth with solids (64.9%), pharyngeal phase dysphagia (60.8%), and sialorrhea (63.3%) were common in this population. Mutation type was not predictive of receptive or expressive language abilities. We developed language and communication treatment recommendations based on these findings.
Objective: Velopharyngeal insufficiency (VPI) is a common speech disorder in patients with a history of cleft palate (CP) or 22q11.2 deletion syndrome. Pharyngeal flap (PF) and sphincter pharyngoplasty (SP) are 2 common surgeries to treat this disorder by decreasing unwanted nasal air emission and hypernasal resonance. Because Eustachian tube dysfunction (ETD) in patients with CP may be more frequent after surgery for VPI, we examined whether ETD was associated with either type of surgery. Design: Retrospective cohort study. Setting: Children’s hospital-based tertiary referral center. Patients: A total of 225 children with VPI who underwent primary PF (201) or SP (24) between 2006 and 2017. Outcome measures: We examined differences in risk of ETD according to both surgical groups and proxies for postoperative nasal obstruction. These proxies included postoperative resonance measures and development of obstructive sleep apnea (OSA). Results: Both surgical groups had similar preoperative measures, except the PF group had higher hypernasality by PSA. Postoperatively, the PF group demonstrated lower hypernasal resonance by nasometry and PSA. There were no differences between PF and SP groups with regard to ETD. Proxies for postoperative nasal obstruction also were not predictive of postoperative ETD. Degree of CP and younger age were found to be risk factors for ETD. Conclusion: There was no significant difference in the effects of PF and SP on ETD in this study. Neither lower hypernasality nor incidence of OSA had any impact on ETD. Degree of CP and younger age were the only significant risk factors for ETD that this study identified.
Objective The addition of a uvular flap (PFU) was hypothesized to improve outcomes over standard pharyngeal flap (PF) for correction of velopharyngeal dysfunction. We report differences in outcomes of PF vs PFU at our institution. Design Retrospective cohort study. Setting Tertiary children's hospital. Patients Children who underwent PF or PFU with the three highest-volume surgeons at our institution in 2004-2017. Outcome measures We examined differences in complications between groups, frequency and type of revision surgery, and speech-related measures including nasometry, pressure-flow testing (PFT) and perceptual speech analysis (PSA). Results 160 patients were included, 41 PF and 119 PFU (including 18 with Hogan technique). Patients undergoing PFU were older (7.6 yr vs 6.0 yr; p = 0.037) and more likely to have cleft palate (63/119 vs 14/41; p = 0.047). There was no significant difference in complications. With PFU, a decrease in airspace contracting revision surgeries was noted, (4/119 vs 8/41; p = 0.002) which drove a reduction in revision surgery of all types (7/119 vs 13/41; p = 0.033). However, patients that did undergo revision surgery after PFU underwent more revision procedures (p = 0.032). PSA scores were found to be lower (less hypernasal) after PFU (p = 0.009) compared to PF. Objective speech measures had varying results, with nasometry demonstrating a significant difference between groups (p = 0.001), while PFT (p = 0.525) did not demonstrate a statistical difference. Conclusion The use of a uvular lining flap in pharyngeal flap surgery may be associated with improved long term surgical outcomes, including both improvements in subjective and objective testing and a lower rate of revision surgery, without increased complications.
Characterized by developmental delay with severe speech delay, dental anomalies, cleft palate, skeletal abnormalities, and behavioral difficulties, SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2. The SAS phenotype range of severity has been documented previously in large series. Using data from the SAS registry, we present the SAS severity score, a comprehensive scoring rubric that encompasses 15 different individual neurodevelopmental and systemic features. Higher (more severe) systemic and total (sum of neurodevelopmental and systemic scores) scores were seen for null variants located after amino acid 350 (the start of the CUT1 domain), the recurrent missense Arg389Cys variant (
n
=
10
), intragenic deletions, and larger chromosomal deletions. The Arg389Cys variant had the highest cognitive, verbal, and sialorrhea severity scores, while large chromosomal deletions had the highest expressive, ambulation, palate, feeding and growth, neurodevelopmental, and total scores. Missense variants not located in the CUT1 or CUT2 domain scored lower in several subcategories. We conclude that the SAS severity score allows quantitative phenotype morbidity description that can be used in routine clinical counseling. Further refinement and validation of the SAS severity score are expected over time. All data from this project can be interactively explored in a new portal.
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