Purpose-To determine developmental outcomes and associated factors in patients with congenital diaphragmatic hernia (CDH) at two years of age.Methods-This is a multicenter prospective study of a CDH birth cohort. Clinical and socioeconomic data were collected. Bayley Scales of Infant Development (BSID-III) and Vineland Adaptive Behavior Scales (VABS-II) were performed at two years of age.Results-BSID-III and VABS-II assessments were completed on 48 and 49 children, respectively. The BSID-III mean cognitive, language, and motor scores were significantly below the norm mean with average scores of 93 +/− 15, 95 +/−16, and 95 +/− 11. Ten percent (5/47) scored more than two standard deviations below the norm on one or more domains. VABS-II scores were similar to BSID-III scores with mean communication, daily living skills, social, motor, adaptive behavior scores of 97 +/−14, 94+/−16, 93 +/− 13, 97+/− 10, and 94 +/− 14. For the BSID-III, supplemental oxygen at 28 days, a prenatal diagnosis, need for extracorporeal membrane oxygenation (ECMO) and exclusive tube feeds at time of discharge were associated with lower scores. At two years of age, history of hospital readmission and need for tube feeds were associated with lower scores. Lower socioeconomic status correlated with lower developmental scores when adjusted for significant health factors.

Significant differences noted on motor outcomes at the 6-8 month visit were no longer apparent in later visits. Referral to early intervention services is high in both the groups. These findings are important to those caring for infants with CHD because many of these patients may need referral for early intervention.

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Background: We analyze the safety and tolerability of trofinetide and provide a preliminary evaluation of its efficacy in adolescent and adult males with fragile X syndrome. Methods: This study was an exploratory, phase 2, multicenter, double-blind, placebo-controlled, parallel group study of the safety and tolerability of orally administered trofinetide in 72 adolescent and adult Conflicts of interest: E.B.-K. participated in the Neu-2566-FXS 001 trial, has been a consultant for Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan, Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, and Ovid Pharmaceuticals regarding conduct of clinical trials in FXS and other rare neurological diseases, is on the Scientific Advisory Board for Vtesse/Mallinckrodt to provide guidance on clinical trials in Niemann-Pick type C (NP-C), has received research funding to conduct clinical trials in FXS from Novartis, Roche, Seaside Therapeutics, Alcobra, Neuren, Ovid, and Zynerba to conduct a clinical trial in NP-C from Vtesse/ Mallinckrodt, and to develop FMR1 testing standards from Asuragen. She was also a participating principal investigator on a clinical trial in Rett syndrome sponsored by Neuren Pharmaceuticals. She has research finding through grants from NIH, CDC, FRAXA Research Foundation, International Rett Syndrome Foundation, and the Phelan McDermid Foundation. She was consultant to GCC on the project funded by Neuren Pharmaceuticals for the psychometric analysis of the FXRS. J.P.H. was an employee at Neuren Pharmaceuticals, Inc. during the conduct of the research. He is currently an employee at AMO Pharma Ltd., which was not involved in the clinical trial reported in this manuscript. N.T. participated in the Neu-2566-FXS 001 trial and has received research funding from NICHD and CDC, and for industrysponsored clinical trials in autism and/or fragile X from Seaside Therapeutics, Roche, Neuren, Alcobra, Zynerba, and Ovid. She has consulted with Zynerba and Ovid on clinical trial design and outcome measures in FXS. R.H. participated in the Neu-2566-FXS 001 trial and receives research funding from NICHD, Azrieli Foundation, Curemark, and Zynerba currently regarding studies in FXS, autism, or premutation involvement. She has consulted with Zynerba,