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Intellectual disability affects approximately 1–3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle‐income countries. The present study estimated the prevalence of genetic causes related to intellectual disability in a cohort of children from a city in south Brazil who were followed from birth. Children who showed poor performance in development and intelligence tests at the ages of 2 and 4 were included. Out of 4,231 liveborns enrolled in the cohort, 214 children fulfilled the inclusion criteria. A diagnosis was established in approximately 90% of the children evaluated. Genetic causes were determined in 31 of the children and 19 cases remained unexplained even after extensive investigation. The overall prevalence of intellectual disability in this cohort due to genetic causes was 0.82%. Because this study was nested in a cohort, there were a large number of variables related to early childhood and the likelihood of information bias was minimized by collecting information with a short recall time. This study was not influenced by selection bias, allowing identification of intellectual disability and estimation of the prevalence of genetic causes in this population, thereby increasing the possibility of providing appropriate management and/or genetic counseling. © 2015 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

first cluster there were 15 cases characterized by 1p and/or 16p . CREBBP and STAT6 were the most frequently mutated genes (67%), followed by TNFRSF14 (62%). Clinically, there was a female predominance (12/15; 80%), and inguinal presentation (10/15; 67%) with a frequent diffuse growth pattern (6/15; 40%). The second cluster comprised 14 cases without 1p or 16p CNN-LOH but 5 cases showed 1p deletion. CREBBP was the most frequently mutated gene (77%) followed by STAT6 (57%), KMT2D (50%), TNFRSF14 (43%) and EZH2 (36%) mutations. Clinically, there was a female predominance (9/14; 64%), some inguinal presentation (6/13; 46%) but diffuse growth pattern was rare (3 cases). In the third cluster there were 15 cases characterized by low number of genetic alterations. CREBBP was not mutated and CNN-LOH was not identified.Clinically, no sex predilection and rare inguinal presentation was observed. The BCL6 translocated cases were equally distributed among the three groups.Conclusions: BCL2-negative FLs are genetically and clinically a heterogeneous disease. Three different genetic profiles were identified that correlated with some clinical features. Groups 1 and 2 had in common the frequent occurrence of STAT6 and CREBBP mutations; however, they differed in the extent of 1p and 16p CNN-LOH and deletions. Group 3 showed low mutational level and different clinical features. MAP2K1 mutations were not identified in any of the cases indicating that BCL2-negative FL and pediatric-type FL are two different entities. Introduction: Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is an uncommon subtype of HL; the optimal management of stage I-II remains undefined. Methods: We conducted a multi-center retrospective study including patients (pts) ≥16 years (yr) with CD20+ stage I-II NLPHL diagnosed from 1995-2018. Management included observation after excision, single agent rituximab (R), chemotherapy (CT), radiation therapy (RT), and combined modality therapy (CMT=RT+systemic therapy). Primary outcomes were progression-free survival (PFS, by clinical, radiographic or pathologic progression) and overall survival (OS). Outcomes were measured with the Kaplan-Meier method with uni-and multivariable analyses (MVA) conducted with Cox regression. Results: We identified 437 pts with stage I-II NLPHL with median age 38 yr (range, 16-90) and median follow up of 5 yr (interquartile range=2.0-8.2). The majority were male (n=307 [70%]), had stage I (n=241 [55%]), ECOG 0-1 (n=366 [84%]), and were staged by PET-CT (n=295 [68%]). The 5-yr PFS and OS were 86.7% and 97.6%, respectively. 5-yr PFS by treatment were: 89.7% for RT (n=199 [46%], median dose 36 Gy), 92.5% for CMT (n=160 [37%]), 69.9% for CT ABSTRACT 145 (n=37 [8%]), 92.9% for observation (n=29 [7%]), and 33.3% for R (n=12 [3%]). CT only regimens were ABVD (n=27, 3 with R), R-CHOP (n=9), and R-COMP (n=1). CMT systemic therapies were ABVD (n=116, 19 with R), R-CHOP (n=24), R (n=15), MOPP (n=3), BEACOPPesc (n=1), and CVP (n=1). On univariable analysis, stage II (p=0.008), age (continuous...

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