Outcomes of surgical treatment of patellar instability in children with Down syndrome.

BACKGROUND: patellar instability is a relatively frequent musculoskeletal disorder in children with Down syndrome (DS). However, such a condition has seldom been studied in the literature, even less its surgical treatment. Different techniques have been offered for this condition; the evidence for surgical options is scarce and primarily based on case reports or case series with few patients and heterogeneous techniques. Given this background, we aimed to evaluate the outcomes of a uniform kind of surgical procedure for such a condition that combined lateral soft tissue release, medial patellofemoral ligament (MPFL) reconstruction (using a partial-thickness quadriceps tendon autograft), the Roux-Goldthwait procedure, and V-Y quadricepsplasty (if needed). MATERIALS AND METHODS: This retrospective study involved 11 skeletally immature patients (12 knees; 9 males and 2 females), 5.5 to 14.1 years of age, with DS who had patellofemoral instability (PFI) and were managed by this technique between October 2018 and March 2020. Preoperative radiography, CT scan, and MRI were performed to evaluate the physis status, lower limb alignment, patellar height, trochlear morphology, and any associated knee pathology. A functional knee assessment was done by using the Kujala score and the modified Lysholm score. RESULTS: The mean time of follow-up (± SD) was 47.7 ± 5.8 months (range: 39-56). Pre-operatively, the Kujala score (± SD) was 52.6 ± 14.3 (range: (31-74), and at final follow-up, it was 92.2 ± 4.4 (range: (88-98), showing a significant improvement (P < 0.001). The preoperative modified Lysholm score (± SD) was 54.3 ± 8.1 (range: 39-62), and at final follow-up it was 92.4 ± 5.3 (range: 82-96), showing a significant improvement (P < 0.001). All patients had a stable patella without a recurrence of instability and regained full ROM. There was no incidence of a patellar fracture or femoral physis injury. CONCLUSIONS: Our proposed technique of combined soft tissue procedures, including lateral soft tissue release, MPFL reconstruction (using a partial-thickness quadriceps tendon autograft), the Roux-Goldthwait procedure, and V-Y quadricepsplasty, was an effective method for treating patellar instability in children with DS while avoiding physeal injury and patellar fracture. Functional scores and radiological outcomes were improved. LEVEL OF EVIDENCE: IV; retrospective case series.

Efficacy and safety of adenotonsillectomy in the management of obstructive sleep apnea syndrome in children with Down syndrome: A systematic review and meta-analysis.

Obstructive sleep apnea (OSA) is commonly observed in children with Down syndrome (DS) and may affect their physical and psychological development. Currently, adenotonsillectomy is the first line treatment option for paediatric patients with OSA. However, surgical outcomes for such patients are not satisfactory. In this study, we analysed the efficacy and safety of adenotonsillectomy in the treatment of children with obstructive sleep apnea and Down syndrome. We systematically searched the PubMed, Web of Science, EMBASE, and the Cochrane databases and pooled data from nine relevant studies involving 384 participants. Subsequently, we analysed four outcomes in polysomnography, namely: net postoperative changes in the apnea-hypopnea index (AHI), the minimum oxygen saturation, sleep efficiency, and arousal index. Meta-analysis of the AHI showed a decrease of 7.18 events/h [95% CI (-9.69, -4.67) events/h; p < 0.00001] and an increase in the minimum oxygen saturation of 3.14% [95% CI (1.44, 4.84) %; p = 0.0003]. There was no significant increase in sleep efficiency [MD 1.69%, 95% CI (-0.59, 3.98) %; p = 0.15], but the arousal index significantly decreased by -3.21 events/hour [95% CI (-6.04, -0.38) events/h; p < 0.03]. In addition, the overall success rate was 16% (95% CI, 12%-21%) for postoperative AHI < 1 and 57% (95% CI, 51%-63%) for postoperative AHI <5. The postoperative complications recorded included airway obstruction and bleeding. This study demonstrated the efficacy of adenotonsillectomy as a treatment option for OSA. However, it is important to note that residual OSA and potential postoperative complications require further attention in future studies.

Intracapsular Versus Total Tonsillectomy in Patients with Trisomy 21.

OBJECTIVES: Intracapsular tonsillectomy and adenoidectomy (iTA) has become a popular alternative to extracapsular tonsillectomy and adenoidectomy (TT) for the treatment of pediatric obstructive sleep apnea (OSA) due to improved recovery and fewer complications. The objective of this study was to compare surgical recovery and impact on OSA of iTA versus TT in patients with Trisomy 21 (T21). METHODS: This is a case series with chart review of all T21 patients who underwent iTA or TT at our institution between July 1, 2015 and August 15, 2022. Data collected included demographics, comorbidities, preoperative sleep studies, intraoperative data, complications and recovery, postoperative sleep studies, and follow-up data. RESULTS: There were 62 (21.7%) patients who underwent iTA and 224 (78.3%) patients who underwent TT. The iTA group had significantly lower pain scores (p < 0.001), decreased use of narcotics (p < 0.001), shorter length of stay (p = 0.003), and faster return to oral intake (p = 0.01) during their postoperative hospital admission, and fewer 30-day complications (p = 0.009) compared to the TA group. Both groups showed significant improvements in their sleep studies. For 41 (66.1%) of iTA patients who had follow-up, median follow-up was 1.8 years and for 169 (75.4%) TT patients, median follow-up was 2.6 years. At follow-up, 21 of 41 (51.2%) iTA patients and 83 of 169 (49.1%) TT patients exhibited OSA symptoms (p = 0.084) and tonsillar regrowth was not significantly different between the two groups (p = 0.12). CONCLUSION: Patients with T21 experience less pain and fewer postoperative respiratory complications from iTA than from TT. The short-term impact of iTA versus TT on OSA, as measured by poysomnography, does not differ between the two techniques. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:2430-2437, 2024.

Accuracy of parental perception of nighttime breathing in children with Down syndrome after adenotonsillectomy.

STUDY OBJECTIVES: Clinical practice guidelines recommend screening all children with Down syndrome for obstructive sleep apnea with polysomnography by age 4 years. Because persistent obstructive sleep apnea (obstructive apnea-hypopnea index > 1 event/h) following adenotonsillectomy (T&A) is common in children with Down syndrome, it is important to know whether clinicians can rely on parental assessment postoperatively. The primary objective is to identify accuracy of parental perception of nighttime breathing following T&A compared with preoperative assessment. METHODS: Patients with Down syndrome who underwent T&A along with polysomnography prior to and after the surgical procedure were included. Parents completed a 3-question pre- and postsurgery survey regarding nighttime symptoms. The responses were categorized into 3 groups: infrequent (< 3 nights/wk), sometimes (> 3 nights/wk but < 6 nights/wk), or frequent (≥ 6 nights/wk) on at least 1 question. The primary end point was identifying the accuracy of parental perception of nighttime breathing in children with Down syndrome following T&A. RESULTS: A total of 256 children met inclusion criteria, of which 117 (46%) were included. A total of 71 (68%) children had an obstructive apnea-hypopnea index > 5 events/h preoperatively compared with 55 (47%) postoperatively. There was no association between parents' perception of symptoms and obstructive sleep apnea categorization postoperatively (P > .05) or of parents' perception of symptoms improving and obstructive sleep apnea categorization improving postoperatively (P > .05). CONCLUSIONS: Despite previous experience, parents are unable to predict nighttime breathing patterns following a T&A. We recommend obtaining a polysomnogram rather than relying on parental assessment to determine whether a T&A has been successful. CITATION: Chabuz CA, Lackey TG, Pickett KL, Friedman NR. Accuracy of parental perception of nighttime breathing in children with Down syndrome after adenotonsillectomy. J Clin Sleep Med. 2024;20(2):237-243.

Patients With Down Syndrome and Total Hip and Total Knee Arthroplasty: Outcome Measures Show Increased Risk of Perioperative Complications.

BACKGROUND: Patients with Down syndrome (DS) are being considered for total joint arthroplasty. There is limited literature regarding outcomes of patients with DS after total hip arthroplasty (THA) and total knee arthroplasty (TKA). METHODS: Data were abstracted from the 2010 to 2021 Q1 PearlDiver M151 database. THA and TKA osteoarthritis adult patients with and without DS were identified. Patients were matched 1:10. Ninety-day postoperative events and 2-year revision rates were compared. RESULTS: For THA, 154 patients with DS were matched with 1,532 patients without DS. For TKA, 150 patients with DS were matched with 1,495 patients without DS. On multivariable logistic regression, THA and TKA patients with DS were at markedly greater odds of postoperative events including any adverse event, sepsis, minor adverse event, urinary tract infection (UTI), acute kidney injury (AKI), and pneumonia. For both THA and TKA, 2-year revision rates were not increased for those with DS. DISCUSSION: This study represents the largest cohorts for matched patients with DS undergoing THA or TKA through 90 days postoperatively. For both procedures, DS patients were found to have greater risk of several adverse events, but not 2-year revisions. These findings may help guide perioperative risk assessment, patient/family counseling, and care pathways.

Germline BRCA2 Pathogenic Variant in Primary Breast Cancer of a Down Syndrome Individual.

BACKGROUND Down syndrome (DS) is the most common genetic disorder, and individuals with DS are known to have a low risk for solid tumors, including breast cancer. In contrast, Breast Cancer Susceptibility Gene (BRCA) pathogenic variant can cause breast cancer. We report a case of primary breast cancer harboring a BRCA2 pathogenic variant in a 35-year-old woman with DS. CASE REPORT A 35-year-old woman with DS presented with a palpable 2-cm mass in the upper-inner quadrant of the left breast. A biopsy confirmed an invasive ductal carcinoma of the breast. Her clinical diagnosis was cT2, N0, M0, cStageIIA. A left modified radical mastectomy with axillary node dissection was performed. Her final pathological diagnosis was invasive ductal carcinoma (T2, pN1, M0, stageIIB), positive estrogen receptors, negative progesterone receptors, negative human epidermal receptor-2 status. She was started on adjuvant hormonal therapy. Unfortunately, 23 months after the operation, multiple metastases were detected. Testing for a BRCA pathogenic variant was performed, and a BRCA2 pathogenic variant was detected. Olaparib was orally administered, and the levels of tumor markers rapidly declined; however, the levels of the tumor markers started to increase again 5 months after the initiation of olaparib. Subsequently, she developed bilateral carcinomatous lymphangiomatosis and died 59 months after the operation. CONCLUSIONS This report highlights a rare case of primary breast cancer harboring a germline BRCA2 pathogenic variant in an individual with DS. Our study highlights the importance of genetic testing as part of breast cancer management in these patients.

The management of residual OSA post-adenotonsillectomy in children with down syndrome: The experience of a large tertiary sleep service.

INTRODUCTION: Obstructive Sleep Apnoea (OSA) is common in children with Down Syndrome (DS). Adenotonsillectomy is regarded as first line treatment for OSA but does not always lead to resolution of symptoms in this group of children. Management of residual OSA is variable with no existing recommendations to guide clinical practice. AIM: To describe the experience of a large tertiary sleep service in managing residual OSA in children with DS following upper airway surgery (adenotonsillectomy, adenoidectomy or tonsillectomy). METHODS: A retrospective study of children who were under evaluation at the Queensland Children's Hospital sleep medicine department between October 2013 to April 2022 for residual OSA, after upper airway surgery was undertaken. RESULTS: 148 children with DS who underwent polysomnography for evaluation of OSA were identified. 100 were included in this study and of these, 77 underwent adenotonsillectomy, 19 adenoidectomy, and 4 tonsillectomy. Post-surgical PSG data of all 100 children showed residual mixed sleep disordered breathing in 68 children. 41 were recommended CPAP following surgery, while 21 underwent further surgery. CONCLUSIONS: Residual OSA was confirmed to be highly prevalent in children with DS who had already undergone upper airway surgery for OSA. This study identified that CPAP is possible to establish in most children with DS and can be used to manage residual OSA in this population. Approximately one-third of this group were able to discontinue therapy at a median duration of 18 months, suggesting resolution of disease with time can occur in some children.

Outcome of Primary Monocanalicular Stent Placement in Pediatric Down Syndrome Patients with Congenital Nasolacrimal Obstruction.

PURPOSE: Congenital Nasolacrimal duct obstruction (CNLDO) is a relatively common problem in children with Down syndrome (DS). Probing and irrigation (PI) with monocanalicular stent intubation may be less successful than in non-DS patients, thus raising some concerns regarding the preferred treatment in this population. We aimed to analyze the surgical outcome of PI along with monocanalicular stent intubation in children with DS compared with non-DS patients. METHODS: Retrospective cohort study. Thirty-five eyes of 19 children with DS and 1,472 eyes of 1,001 children without DS underwent PI-monocanalicular stent intubation as a primary treatment for CNLDO. All patients were operated on by a single surgeon at the Children's Hospital of Philadelphia between 2009 and 2020. The main outcome measure was a surgical success, defined as the resolution of symptoms after surgery. RESULTS: A total of 1,020 patients were included, 48% females; mean age of 1.9 ± 1.4 years. The mean follow-up time was 35.0 months. The DS patients group consisted of 19 patients. Higher rates of right nasolacrimal duct obstruction and bilateral obstructions were observed in the DS group (100% vs. 73.2%; p = 0.006, and 84.2% vs. 46.8%; p = 0.001, respectively). Patients with DS had a lower success rate (57.1% vs. 92.4%; p < 0 .0001). The median time to failure was 3.1 months in the DS group, and 5.2 months in the group of patients without DS. The hazard ratio comparing DS to the no-DS outcome was 6.6 (95% CI: 3.2-13.7; p < 0.001). CONCLUSIONS: CNLDO in DS is more likely to be bilateral and less likely to resolve after primary monocanalicular stent placement.

Laparoscopic Repair of Morgagni Hernia in Children.

PURPOSE: This study aimed to evaluate our patients who underwent laparoscopic-assisted transabdominal repair for Morgagni hernia (MH). METHODS: We retrospectively reviewed patients who underwent laparoscopy-assisted transabdominal repair using loop sutures for MH between March 2010 and April 2021. Demographic data, symptoms, operative findings, operation methods, and postoperative complications of the patients were reviewed. RESULTS: A total of 22 patients with MH were treated with laparoscopy-assisted transabdominal repair using loop suture. There were 6 girls (27.2%) and 16 boys (72.7%). Two patients had Down syndrome, and two patients had cardiac defects (secundum atrial septal defect, patent foramen ovale). One patient had a V-P shunt due to hydrocephalus. One patient had cerebral palsy. The mean operation time was 45 min (30-86 min). The hernia sac was not removed, and a patch was not used in any of the patients. The mean hospitalization time was 1.7 days (1-5 days). One patient's defect was very large, and another patient's liver was densely attached to the liver sac, causing bleeding during dissection. In total, two patients were converted to open surgery. There was no recurrence during the follow-up. CONCLUSION: Laparoscopy-assisted transabdominal repair is an efficient and safe choice for the repair of MH. Leaving the hernia sac does not increase the recurrence, so there is no need to dissect the sac.

Decannulation in Trisomy 21 patients undergoing laryngotracheal reconstruction.

BACKGROUND: Down Syndrome (DS) patients are more susceptible to either congenital or acquired subglottic stenosis (SGS). This often creates a multilevel airway obstruction and can lead to tracheostomy dependence early in life. As a result, they may require Laryngotracheal Reconstruction (LTR) to achieve decannulation. The primary objective of this study was to assess decannulation rates, time to decannulation and potential barriers to decannulation in DS patients undergoing LTR. METHODS: We performed a retrospective chart review from 2008 to 2021 of 193 children who underwent LTR for treatment for laryngotracheal stenosis at a stand-alone tertiary children's hospital. The relationship between clinical data and decannulation status was evaluated using multivariable logistic regression and Fisher exact tests. Time to decannulation analysis was performed using Kaplan Meier analysis and evaluated with log-rank and Cox proportional hazards regression. RESULTS: We determined that DS patients carry an inherit risk for decannulation failure compared to the general population (OR: 6.112, P = . 044, CI 1.046-35.730). Of the 8 patients with DS only three were decannulated. Overall, patients with Trisomy 21 had a significantly increased time to decannulation when compared to all LTR patients (P = .008, Log-rank). We found that these patients are more likely to have both suprastomal collapse (P = .0004, Fischer's Exact) and Tracheomalacia (P = .034, Fischer's Exact) compared to all other LTR patients. While post-operative tracheomalacia did not significantly affect decannulation failure (P = .056, Fischer's Exact) it did significantly prolong decannulation in all LTR patients (P = .018, Log-rank). CONCLUSION: Trisomy 21 patients are at an increased risk for decannulation failure. Our study illustrates that these poor outcomes are likely a result of conditions more commonly found in this cohort including: narrow tracheal caliber, tracheomalacia and hypotonia.

Parental experience of hypoglossal nerve stimulator implantation in adolescents with Down Syndrome and obstructive sleep apnea.

PURPOSE: The purpose of this study is to explore the experience of parents in deciding whether to participate in a clinical trial of the insertion of the Hypoglossal Nerve Stimulator (HNS) to treat their adolescent with Down Syndrome (DS) and Obstructive Sleep Apnea (OSA). DESIGN AND METHODS: A qualitative descriptive design with interviews was used to gather parental experiences from those who consented to HNS for their adolescent with DS and OSA. Interviews were conducted, audiotaped, and transcribed. Basic content analysis was followed to interpret the data. Using a process of data debriefing/engagement, codes were generated, and field/reflective notes were used to assure trustworthiness of the data. RESULTS: Parents, 13 mothers/2 fathers, participated. Three themes were identified: Parents experience desperation about acceptance of standard of care for their adolescent with DS and OSA. This desperation led parents to seek information/insights from social media and they came to rely on those sites to explore options, ultimately leading them to HNS clinical trial. Finally, parents had a desire to share experience with HNS implantation. CONCLUSIONS: Parents described being desperate at acceptance of standards of care for OSA. They shifted reliance on experts and parents by searching social media pages to explore options for treatment of OSA. Parents wished to share experiences with the HNS implantation. PRACTICE IMPLICATIONS: Nurses play a role in preparing for the HNS by instructing/educating parents. Nurses can identify supportive social media sites for parents during the HNS decision and suggest ways to measure outcomes of HNS.

Prevalence and surgical management of cholesteatoma in Down Syndrome children.

OBJECTIVE: The objective was to report the outcomes of surgical management of cholesteatoma in Down Syndrome (DS) children and to determine the prevalence of cholesteatoma in DS children at three academic tertiary care centers. METHODS: A retrospective chart review was performed of all DS children diagnosed with cholesteatoma from three tertiary care academic centers. Demographic data, comorbidities, imaging findings, surgical management, and pre- and postoperative pure tone averages were collected. RESULTS: The prevalence of cholesteatoma in DS patients at these three institutions was calculated to be 8/802 (0.998%), 4/448 (0.893%), and 4/1016 (0.394%), with an average prevalence of 0.762%. Of the 16 patients with cholesteatoma identified, the average age of diagnosis was 10.8 years, and 5/16 (31%) had at least three sets of pressure equalizing tubes (PETs) placed. Of the 13 patients with preoperative CTs, 4/13 (30.8%) had blunting of the scutum, 4/13 (30.8%) had tegmen involvement, 1/13 (7.7%) had erosion of the semicircular canal, 2/13 had facial nerve dehiscence, and 7/13 (53.8%) had ossicular chain erosion. For surgical management, disease control was attained in 4/16 children with tympanoplasty only and canal wall up (CWU) tympanomastoidectomy in 11/16 patients. Available pre- and postoperative audiograms were evaluated; however, there was insufficient audiological data to contribute to outcomes. CONCLUSION: Cholesteatoma occurs in nearly 1% of DS patients, and the disease tends to be advanced with tegmen involvement in nearly a third of patients, and ossicular erosion seen in more than half the patients. A CWU procedure can be successful in managing DS patients with cholesteatoma when consistent long term follow-up is planned. Close monitoring and a high index of suspicion for cholesteatoma are essential to prevent delays in diagnosis and treatment of DS patients with a history of multiple sets of PET placement.

C-arm Free O-arm Navigated Posterior Atlantoaxial Fixation in Down Syndrome: A Technical Note.

The surgical treatment of pediatric atlantoaxial subluxation (AAS) in Down syndrome (DS) remains technically challenging due to radiation exposure and complications such as vertebral artery injury and nonunion. The established treatment is fixation with a C1 lateral mass screw and C2 pedicle screw (modified Goel technique). However, this technique requires fluoroscopy for C1 screw insertion. To avoid exposing the operating team to radiation we present here a new C-arm free O-arm navigated surgical procedure for pediatric AAS in DS. A 5-year-old male DS patient had neck pain and unsteady gait. Radiograms showed AAS with an atlantodental interval of 10 mm, and irreducible subluxation on extension. CT scan showed Os odontoideum and AAS. MRI demonstrated spinal cord compression between the C1 posterior arch and odontoid process. We performed a C-arm free O-arm navigated modified Goel procedure with postoperative halo-vest immobilization. At oneyear follow-up, good neurological recovery and solid bone fusion were observed. The patient had no complications such as epidural hematoma, infection, or nerve or vessel injury. This novel procedure is a useful and safe technique that protects surgeons and staff from radiation risk.

Is primary total hip arthroplasty in patients with Down's syndrome associated with increased complications at 2 years follow-up?

INTRODUCTION: Previous reports on primary total hip arthroplasty (THA) in patients with Down's syndrome (DS) are often small and/or lack a comparison cohort, and thus it is challenging to draw meaningful conclusions about this group. The purpose of this study was to report on the post-operative complications in patients with DS undergoing primary THA, compared to a non-DS cohort. METHODS: In this retrospective study, we evaluated patients from 2010 to 2018 using a national database. We assessed surgical complications: closed reduction for dislocation, revision, resection, periprosthetic fracture, and infection in patients with a diagnosis of DS undergoing primary THA and compared them to a THA group of patients without DS. Patients undergoing THA for hip fractures were excluded. Complications were evaluated at 90 days and 2 years. Multivariable logistic regression analysis was used to adjust for age, sex, body mass index, and Charlson comorbidity index. RESULTS: At 90 days patients with DS had an increased risk of revision (OR 3.1, CI 1.14-8.41), but no significant risk of resection (OR 5.24, CI 0.73-37.8), closed reduction (OR 2.03, CI 0.28-14.59), infection (OR 1.48, CI 0.6-3.62), or periprosthetic fracture (OR 1.97, CI 0.27-14.14). At 2 years patients with DS had an increased risk of periprosthetic fracture (OR 5.88, CI 1.84-18.78), but no significant increased risk of revision (OR 1.82, CI 0.66-5.01), resection (OR 2.37, CI 0.33-17.17), or infection (OR 0.65, CI 0.2-2.07). CONCLUSIONS: Primary THA in patients with DS is associated with increased 90-day revision, and periprosthetic fracture at 2 years.

The impact of inhalation anesthetics on early postoperative cognitive function and recovery characteristics in Down syndrome patients: a randomized, double - blind study.

BACKGROUND: Down syndrome (DS) is associated with intellectual disability. DS patients may be unable to cooperate and often require general anesthesia even for minor surgeries. Rapid recovery significantly contributes to fast-tracking. This prospective randomized, double - blind study investigates the impact of desflurane and sevoflurane on recovery and early postoperative cognitive function of these patients. METHODS: Forty-four patients undergoing dental surgery, were randomized to receive desflurane (DES-group) or sevoflurane (SEVO-group) for anesthesia maintenance. The primary outcome was postoperative cognitive function (Prudhoe Cognitive Function Test, PCFT) at 90 min and 4 h postoperatively. Secondary outcome measures were the time between volatile discontinuation and spontaneous breath, eye opening, extubation, orientation and response to commands, time to achieve an Aldrete score ≥ 9 in the Post-anesthesia Care Unit and time to fulfill discharge criteria (Post Anesthetic Discharge Scoring System, PADSS). RESULTS: At 90 min, PCFT scores significantly decreased from baseline in both groups. Nevertheless, at 4 h, in DES-group there was no significant change from baseline (p = 0.163), while in SEVO-group the decrease remained significant (p < 0.001). Desflurane was also found superior regarding recovery characteristics, such as time to eye opening (p = 0.021), spatial orientation (p = 0.004), response to commands (p = 0.004). Discharge criteria were met earlier in DES-group (p = 0.018 for Aldrete score / p < 0.001 for PADSS). CONCLUSIONS: Desflurane was found superior to sevoflurane in terms of faster recovery and better preserved postoperative cognitive function in DS patients undergoing dental surgery. We suggest that desflurane, as part of a multimodal anesthetic approach, could be a useful agent to enhance early discharge from hospital of ambulatory patients with intellectual disability. TRIAL REGISTRATION: Registered with ClinicalTrials.gov ( NCT02971254 , principal investigator: E.G; November 2016).

Predictors of OSA following adenotonsillectomy in children with trisomy 21.

OBJECTIVES: Given that 30%-50% of children with trisomy 21 have persistent obstructive sleep apnoea (OSA) after adenotonsillectomy, we evaluated whether demographic, clinical and polysomnographic factors predicted persistent OSA and OSA severity after adenotonsillectomy. DESIGN: Retrospective study. SETTING: Secondary care hospital. PARTICIPANTS: Retrospective review of 32 children with the diagnosis of trisomy 21 and OSA by polysomnography who underwent adenotonsillectomy, from January 2010 to December 2018. MAIN OUTCOME AND MEASURE: Non-parametric analysis was used to compare pre- and postoperative factors, and regression was used to model persistent OSA and OSA severity. RESULTS: Thirty-two children were included (17 males, median age 10.00 ± 8.00 years, median body mass index z-score 0.89 ± 1.25). Overall, adenotonsillectomy resulted in a significant improvement in median obstructive apnoea-hypopnoea index (oAHI) from 7.5 ± 8.95 to 4.40 ± 4.38 events per hour (P < .001) and in median OSA-18 score from 85.00 ± 12.00 to 61.00 ± 37.75 (P < .001). Persistent OSA was found in 56.25% of the children. Univariate regression suggests that postoperative OSA-18 score was associated with persistent OSA after adenotonsillectomy. Preoperative oAHI, preoperative oxygen desaturation index, pre- and postoperative OSA-18 scores correlated with OSA severity after adenotonsillectomy. However, in a multivariate model only the postoperative OSA-18 score correlated with OSA severity after adenotonsillectomy. CONCLUSIONS: Although adenotonsillectomy results in a significant improvement of OSA in children with trisomy 21, more than half of the children had persistent OSA. The postoperative OSA-18 score was associated both with persistent OSA and OSA severity after adenotonsillectomy.

Normal Pressure Hydrocephalus in Down Syndrome: The Report of Two Cases.

Down syndrome (DS) is the most common cause of intellectual disability in infants and has a well-known relationship with the Alzheimer's disease. The association between DS and the other pathologies of senescence, such as normal pressure hydrocephalus (NPH), has been poorly investigated. This series included two DS patients with NPH. In both cases, NPH symptoms were initially misdiagnosed as DS associated senescence. Patients were treated with ventricular-peritoneal shunt, showing a sustained improvement (1 and 4 years of follow-up). To our knowledge, this is the first description of the occurrence of NPH in adult patients with DS and surgical outcomes.

Rare Presentation: A Report of 2 Identical Cases with Thoracic Compressive Myelopathy in Down Syndrome.

BACKGROUND: Atlantoaxial instability, a common finding in patients with Down syndrome (DS), is attributed to laxity of ligamentous structures. Cervical spondylosis identified in these patients has a pathogenesis of ligament laxity and early degeneration compared with the normal population. No cases have been reported showing affection of thoracic or lower levels. CASE DESCRIPTION: Two adults with DS presented with progressive spastic paraparesis with hypertrophy of ligamentum flavum at the lower thoracic level, causing canal stenosis and myelopathy. Degenerative changes were seen in the entire spine. Both patients improved with canal decompression. CONCLUSIONS: Degenerative changes of the spine occur earlier in DS, probably due to increased movements across the vertebrae owing to laxity in the ligaments. Routine workup of patients with DS presenting in their adult lives should keep in mind the affection of lower spinal levels. Early identification of thoracic myelopathy and lumbar canal stenosis gives a chance of cure.

Endoscopic ear surgery in children with down syndrome.

INTRODUCTION: Children with Down syndrome (DS) have a high incidence of chronic middle ear disease. Surgery to manage this disease is challenging due to the severity of illness and narrow ear canal dimensions. Endoscopic ear surgery is used to manage tympanic membrane and middle ear disease with the advantages of improved visualization and avoidance of post-auricular incisions. However, its application in children with DS has not been reported. We aim to compare the outcomes of endoscopic versus microscopic ear surgery in children with DS. METHODS: All patients with DS who underwent tympanoplasty without mastoidectomy between 2012 and 2018 were identified, and their charts retrospectively reviewed. Rate of residual perforation, hearing, surgical time, and surgical details were recorded. RESULTS: 37 surgeries in 26 patients were identified that met inclusion criteria. Two subgroups were analyzed. The first included 14 cases that were done using traditional microscopic visualization (MV). The second included 17 cases that had substantial or exclusive use of endoscopic visualization (EES). Due to a learning curve, the number of cases done endoscopically increased over time. The average age in MV was 13.9 years vs 11.0 in EES. The MV cases included 2 with cholesteatoma vs 4 in EES. In cases with adequate follow up, residual perforations were found in 1/13 MV, and 4/17 EES. All of the residual perforation cases in EES used acellular porcine submucosa grafts. None of the cases in MV used this material. Average air bone gap reduction was seen in both groups; 4.2 dB in MV, 9.8 dB in EES. Average surgical time was similar between groups; 124 min in MV, 115 min in EES. All cases in MV required a post-auricular incision and approach to the middle ear. Only four cases in EES required this approach. Six cases in EES did not require any incision outside of the ear canal for either graft harvest or middle ear approach. CONCLUSION: Endoscopic and microscopic ear surgery in children with DS have similar outcomes. There were no statistical differences in hearing results, surgical times, or residual tympanic membrane perforations, although the rate of perforations in the endoscopic group trended higher. Most endoscopic cases did not require conversion to a post-auricular approach. Endoscopic surgery allows some DS patients to avoid any incision outside of the ear canal.