Comprehensive Manometric Evaluation of Dysphagia in Patients with Down Syndrome.

Dysphagia is a common symptom in children with Down syndrome and is conventionally evaluated with imaging and endoscopy; high-resolution manometry is not routinely utilized. The aim of this study was to describe and correlate pharyngeal and esophageal manometry findings with contrast studies and endoscopy in patients with Down syndrome and dysphagia. Electronic medical records of patients with Down syndrome with dysphagia seen at our center between January 2008 and January 2022 were reviewed. Data collected included demographics, co-morbidities, symptoms, imaging, endoscopy, and manometry. Twenty-four patients with Down syndrome [median age of 14.9 years (IQR 7.6, 20.5), 20.8% female] met inclusion criteria. Common presenting symptoms of dysphagia included vomiting or regurgitation in 15 (62.5%) patients, and choking, gagging, or retching in 10 (41.7%) patients. Esophageal manometry was abnormal in 18/22 (81.2%) patients. The most common findings were ineffective esophageal motility in 9 (40.9%) followed by esophageal aperistalsis in 8 (36.4%) patients. Rumination pattern was noted in 5 (22.8%) patients. All 6 (25%) patients who previously had fundoplication had esophageal dysmotility. Strong agreement was noted between upper gastrointestinal studies and high-resolution esophageal manometry (p = 1.0) but no agreement was found between pharyngeal manometry and video fluoroscopic swallow studies (p = 0.041). High-resolution pharyngeal and esophageal manometry provide complementary objective data that may be critical in tailoring therapeutic strategies for managing patients with Down syndrome with dysphagia.

Long-term seizure outcomes after pediatric temporal lobectomy: does brain MRI lesion matter?

OBJECTIVE: There is emerging data that adults with temporal lobe epilepsy (TLE) without a discrete lesion on brain MRI have surgical outcomes comparable to those with hippocampal sclerosis (HS). However, pediatric TLE is different from its adult counterpart. In this study, the authors investigated if the presence of a potentially epileptogenic lesion on presurgical brain MRI influences the long-term seizure outcomes after pediatric temporal lobectomy. METHODS: Children who underwent temporal lobectomy between 2007 and 2015 and had at least 1 year of seizure outcomes data were identified. These were classified into lesional and MRI-negative groups based on whether an epilepsy-protocol brain MRI showed a lesion sufficiently specific to guide surgical decisions. These patients were also categorized into pure TLE and temporal plus epilepsies based on the neurophysiological localization of the seizure-onset zone. Seizure outcomes at each follow-up visit were incorporated into a repeated-measures generalized linear mixed model (GLMM) with MRI status as a grouping variable. Clinical variables were incorporated into GLMM as covariates. RESULTS: One hundred nine patients (44 females) were included, aged 5 to 21 years, and were classified as lesional (73%), MRI negative (27%), pure TLE (56%), and temporal plus (44%). After a mean follow-up of 3.2 years (range 1.2-8.8 years), 66% of the patients were seizure free for ≥ 1 year at last follow-up. GLMM analysis revealed that lesional patients were more likely to be seizure free over the long term compared to MRI-negative patients for the overall cohort (OR 2.58, p < 0.0001) and for temporal plus epilepsies (OR 1.85, p = 0.0052). The effect of MRI lesion was not significant for pure TLE (OR 2.64, p = 0.0635). Concordance of ictal electroencephalography (OR 3.46, p < 0.0001), magnetoencephalography (OR 4.26, p < 0.0001), and later age of seizure onset (OR 1.05, p = 0.0091) were associated with a higher likelihood of seizure freedom. The most common histological findings included cortical dysplasia types 1B and 2A, HS (40% with dual pathology), and tuberous sclerosis. CONCLUSIONS: A lesion on presurgical brain MRI is an important determinant of long-term seizure freedom after pediatric temporal lobectomy. Pediatric TLE is heterogeneous regarding etiologies and organization of seizure-onset zones with many patients qualifying for temporal plus nosology. The presence of an MRI lesion determined seizure outcomes in patients with temporal plus epilepsies. However, pure TLE had comparable surgical seizure outcomes for lesional and MRI-negative groups.