Neurodevelopmental Outcomes in Extracorporeal Membrane Oxygenation Patients: A Pilot Study.

In this pilot study, we evaluated the long-term neurodevelopmental outcomes in neonatal and pediatric patients supported by extracorporeal membrane oxygenation (ECMO) and aimed to identify the role of post-ECMO magnetic resonance imaging (MRI) in predicting neurodevelopmental outcomes. Twenty-nine patients were evaluated using the Ages and Stages Questionnaire, Third Edition (ASQ-3) screening tool. Thirteen were evaluated during their visit at the neurodevelopmental clinic and 16 were interviewed via phone. We also reviewed the post-ECMO MRI brain of these patients and scored the severity of their injury based on the neuroimaging findings. In our cohort of 29 patients, 10 patients (34%) had developmental delay. Of those with developmental delay, 80% were newborns. Sixty-seven percent of patients with developmental delay had moderate to severe MRI abnormalities as compared with only 18% with no developmental deficits (p = 0.03). The younger the age at the time of placement on ECMO, the higher the chances of impaired neurodevelopmental outcome. Long-term follow-up of patients who have survived ECMO, with standardized neuropsychologic testing and post-ECMO imaging, should become the standard of care to improve long-term outcomes. Significant abnormalities on brain MRIs done before discharge correlated with developmental delay on follow-up.

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals. The first carries a small deletion but does not exhibit the typical facial features nor the typical pattern of developmental delay. The second exhibits typical facial features, but has attained more advanced motor and verbal skills than other reported cases to date. The third displays typical features of PTHS, however inherited a large chromosomal duplication involving TCF4 from his unaffected father with somatic mosaicism. To the authors' knowledge, this is the first chromosomal duplication case reported to date.

Learning disabilities do not go away: 20- to 25-year study of cognition, academic achievement, and affective illness.

This study was undertaken to establish how the current level of cognitive and academic functioning in adults might correlate with the previous testing performed at a small private school in Dallas, Texas, that serves students with learning disabilities. Each of the 40 participants had been evaluated as students 20 to 25 years previously using the standard cognitive and achievement tests accepted in practice during the 1970s. Additionally, the medical director of the school, a neurologist, had evaluated each student for neurologic and behavioral disorders. At the time of follow-up, the participants were administered a battery of intellectual and achievement measures commensurate with the previous testing and a detailed neurologic and neurobehavioral examination was performed. A significant correlation was found between the original and the current test scores, confirming both that learning disabilities persist into adulthood and that children with affective illness have a significant risk for later recurrent affective illness episodes.