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Objective Pediatric brain tumor survivors (PBTS) experience deficits in social functioning. Facial expression and identity recognition are key components of social information processing and are widely studied as an index of social difficulties in youth with autism spectrum disorder (ASD) and other neurodevelopmental conditions. This study evaluated facial expression and identity recognition among PBTS, youth with ASD, and typically developing (TD) youth, and the associations between these face processing skills and social impairments. Methods PBTS (N = 54; ages 7–16) who completed treatment at least 2 years prior were matched with TD (N = 43) youth and youth with ASD (N = 55) based on sex and IQ. Parents completed a measure of social impairments and youth completed a measure of facial expression and identity recognition. Results Groups significantly differed on social impairments (p < .001), with youth with ASD scoring highest followed by PBTS and lastly TD youth. Youth with ASD performed significantly worse on the two measures of facial processing, while TD youth and PBTS were not statistically different. The association of facial expression recognition and social impairments was moderated by group, such that PBTS with higher levels of social impairment performed worse on the expression task compared to TD and ASD groups (p < .01, η2 = 0.07). Conclusions Variability in face processing may be uniquely important to the social challenges of PBTS compared to other neurodevelopmental populations. Future directions include prospectively examining associations between facial expression recognition and social difficulties in PBTS and face processing training as an intervention for PBTS.

Holoprosencephaly (HPE), a common developmental forebrain malformation, is characterized by failure of the cerebrum to completely divide into left and right hemispheres. The etiology of HPE is heterogeneous and a number of environmental and genetic factors have been identified. Cytogenetically visible alterations occur in 25% to 45% of HPE patients and cytogenetic techniques have long been used to study copy number variants (CNV) in this disorder. The karyotype approach initially demonstrated several recurrent chromosomal anomalies, which led to the identification of HPE-specific loci and, eventually, several major HPE genes. More recently, higher-resolution cytogenetic techniques such as subtelomeric multiplex ligation-dependent probe amplification (MLPA) and chromosomal microarray have been used to analyze chromosomal anomalies. By using chromosomal microarray, we sought to identify submicroscopic chromosomal deletions and duplications in patients with HPE. In an analysis of 222 individuals with HPE, a deletion or duplication was detected in 107 individuals. Of these 107 individuals, 23 (21%) had variants that were classified as pathogenic or likely pathogenic by board-certified medical geneticists. We identified multiple patients with deletions in established HPE loci as well as three patients with deletions encompassed by 6q12–q14.3, a CNV previously reported by Bendavid et al. In addition, we identified a new locus, 16p13.2, that warrants further investigation for HPE association. Incidentally, we also found a case of Potocki-Lupski Syndrome, a case of Phelan-McDermid Syndrome, and multiple cases of 22q11.2 deletion syndrome within our cohort. These data confirm the genetically heterogeneous nature of HPE, and also demonstrate clinical utility of chromosomal microarray in diagnosing patients affected by HPE.

Survivors of pediatric brain tumors often have neurodevelopmental late effects, such as inattention. Symptoms may mirror those of attention-deficit/hyperactivity disorder (ADHD), which affects ~ 5–8% of the general population. This retrospective study of survivors followed at a large tertiary care center examined the prevalence of a clinical diagnosis of ADHD, and risk factors associated with ADHD diagnosis and ADHD-related medication use. A retrospective chart review of brain tumor survivors (n = 528), diagnosed between 2000 and 2015, who were at least 6 years old and 2 years from the end of tumor-directed therapy or from diagnosis, if no interventions were received. Clinical and demographic data were extracted from the medical record. Survivors were 55.7% male with mean age 8.15 ± 4.4 (0.0–16.0) years at brain tumor diagnosis. The most common diagnoses were low-grade glioma, medulloblastoma, and craniopharyngioma, with 52.5% of tumors supratentorial. Of the survivors, 81.3% received surgery, 40.0% radiation therapy, and 36.6% chemotherapy. Sixty-nine survivors (13.1%) had ADHD diagnoses, 105 (19.9%) had symptoms of ADHD without diagnoses, and 64 (12.1%) had ADHD medication use. ADHD diagnosis was associated with younger age at tumor diagnosis (p = 0.05) and supratentorial tumor location (p = 0.001). ADHD diagnosis was not associated with gender, tumor type, or treatment type. Survivors of brain tumors are at increased risk of ADHD and related symptoms. The greatest increase in risk occurs for survivors with diagnoses at younger ages and supratentorial tumors. Additional research is warranted, as select survivors may benefit from behavioral or pharmacologic ADHD treatments to optimize functioning.

157 Background: Pediatric brain tumor survivors (PBTS) often experience late effects in social functioning that mirror those seen in children with autism spectrum disorder (ASD). This study evaluated group differences in facial processing abilities and social functioning between school-aged PBTS, children with ASD, and typically developing children (TDC). Methods: PBTS(n=40;65% male; mean age=13.9 years; mean age at diagnosis=5.8 years)were at least 5 years from tumor diagnosis,2 years from end of tumor-directed therapy and absent a multi-system genetic disorder or developmental delay before tumor diagnosis. Participants completed measures of IQ, facial affect/identity recognition(Victoria/Yale Face Processing Battery), and social functioning(Children’s Communication Checklist-2, Vineland Adaptive Behavior Scales,2nd Ed. and Social Responsiveness Scale, 2nd Ed.).PBTS data were compared to a previously collected sample of age, gender, and IQ-matched children with ASD(n=41)and TDC (n=39).One-way ANOVA evaluated differences between groups with Tukey post-hoc tests.Results: IQ for PBTS(m=100.9; SD=16.27),ASD(m=100.17; SD=17.09),and TDC(m=104.72; SD=14.0)were all in the average range.One-way ANOVA revealed group differences for facial identity recognition[ F (2,114)=4.8 η²=.09 , p=.01],facial affect recognition[ F (2, 114)=3.8 , η²=.07, p=.024],and all social functioning measures[ p=.000].Tukey tests revealed PBTS facial affect recognition to be significantly worse than TDC(p < .05)and more comparable to youth with ASD for both facial affect and identity recognition.PBTS also showed worse social functioning than TDC and better than ASD youth across social measures( p’s < .01).Conclusions: Findings suggest PBTS demonstrate impairments in facial affect and identity recognition and social functioning compared to TDC.PBTS facial processing abilities appear similar to those of youth with ASD.PBTS may benefit from multi-disciplinary interventions similar to those used in ASD to improve social functioning. Screening facial processing abilities may identify those at higher risk for social functioning deficits.

Background: Attention-deficit/hyperactivity disorder (ADHD) affects 5-10% of children in the US. Practice guidelines for management of ADHD include the use of standardized rating scales (RS) to monitor treatment. However, many subspecialty providers, including Developmental and Behavioral Pediatricians (DBP), do not use a standardized approach for follow-up management. Phase 1 of this project found that our DBP division’s new visits were more likely to include documentation of parent rating scale (PRS) and teacher rating scale (TRS) data (56% and 47%) than follow-up visits (8% and 22%). Clinicians requested RS for the next visit …

10572 Background: Pediatric brain tumor survivors (PBTS) often have neurodevelopmental late effects, including attention and concentration deficits, which may impact cognitive and academic functioning. Such symptoms are also seen in attention-deficit/hyperactivity disorder (ADHD), which affects ~5-8% of children and adolescents. This study examined the prevalence of ADHD diagnosis and ADHD medication use in PBTS and identified higher risk subsets of patients. Methods: A retrospective chart review was completed of PBTS (n = 106), diagnosed from 1999-2013, who were at least 2 years from the end of tumor-directed therapy (surgery, chemotherapy and/or radiation therapy) and without a multi-system genetic disorder or severe developmental delay prior to brain tumor diagnosis. Subjects were already screened for or enrolled in 3 other studies of PBTS late effects. Statistical analysis involved chi-squared analysis. Results: Among the 106 patients, 55.7% were male, with an average age at time of brain tumor diagnosis of 5.9 years (0-12.2 years). The most common tumor types were glioma (51.9% with 47.2% low grade, 4.7% high grade), medulloblastoma (13.2%) and ependymoma (11.3%), with 50% of tumors supratentorial, 46.2% infratentorial and 3.8% either extending or multifocal across the tentorium. Of the patients, 42.5% received radiation therapy, 38.7% chemotherapy and 86.8% surgery. Nineteen patients (17.9%) had ADHD diagnoses, and 20 (18.9%) had been on ADHD medications. Clinical factors associated with an ADHD diagnosis were supratentorial vs. infratentorial tumors (28.3% vs. 6.1%, p = 0.013), no radiation therapy vs. radiation therapy (27.9% vs. 4.4%, p = 0.002) and no chemotherapy vs. chemotherapy (24.6% vs. 7.3%, p = 0.024). ADHD diagnosis was not associated with age of brain tumor diagnosis or surgical treatment. Conclusions: Our study suggests that PBTS have over twice the ADHD prevalence as the general population, most notably in patients with supratentorial tumors or without a history of radiation therapy or chemotherapy. The results suggest that a closer look at this population is warranted and that select patients may benefit from behavioral or pharmacologic ADHD treatments to optimize functioning.