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18 results

  • Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome

  • Rebecca M. Pollak, Esra Sefik, Katrina Aberizk, Kuaikuai Duan, Roberto Espana, Ryan M. Guest, Adam E. Goldman-Yassen, Katrina Goines, Derek M. Novacek, Celine A. Saulnier, Cheryl Klaiman, Stormi Pulver, Joseph F. Cubells, T. Lindsey Burrell, Sarah Shultz, Elaine F. Walker, Melissa M. Murphy, Jennifer G. Mulle
  • Journal:
    Psychological Medicine / Volume 54 / Issue 14 / October 2024
    Published online by Cambridge University Press:
    04 October 2024, pp. 3876-3887
    • Article
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  • Background

    3q29 deletion syndrome (3q29del) is a rare (~1:30 000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function (EF) deficits in 47% of individuals with 3q29del; however, the nuances of EF in this population have not been described.

    Methods

    We used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world EF in a cohort of 32 individuals with 3q29del (62.5% male, mean age = 14.5 ± 8.3 years). All participants were also evaluated with gold-standard neuropsychiatric and cognitive assessments. High-resolution structural magnetic resonance imaging was performed on a subset of participants (n = 24).

    Results

    We found global deficits in EF; individuals with 3q29del scored higher than the population mean on the BRIEF global executive composite (GEC) and all subscales. In total, 81.3% of study subjects (n = 26) scored in the clinical range on at least one BRIEF subscale. BRIEF GEC T scores were higher among 3q29del participants with a diagnosis of attention deficit/hyperactivity disorder (ADHD), and BRIEF GEC T scores were associated with schizophrenia spectrum symptoms as measured by the Structured Interview for Psychosis-Risk Syndromes. BRIEF GEC T scores were not associated with cognitive ability. The BRIEF-2 ADHD form accurately (sensitivity = 86.7%) classified individuals with 3q29del based on ADHD diagnosis status. BRIEF GEC T scores were correlated with cerebellar white matter and subregional cerebellar cortex volumes.

    Conclusions

    Together, these data expand our understanding of the phenotypic spectrum of 3q29del and identify EF as a core feature linked to both psychiatric and neuroanatomical features of the syndrome.

Gupta and Gelb's Essentials of Neuroanesthesia and Neurointensive Care
  • 2nd edition
  • Edited by Arun Gupta, Adrian Gelb, Derek Duane, Ram Adapa
  • Published online:
    19 June 2018
    Print publication:
    21 June 2018
  • This updated second edition of Gupta and Gelb's Essentials of Neuroanesthesia and Neurointensive Care contains the ideal combination of updated information for the practitioner, presented in easy-to-digest short chapters. With an essential clinical focus on key neuroanesthesia and neurointensive care knowledge, it is a practical guide for any practitioner of neuroanesthesia, beginner, occasional or experienced. The user-friendly format contains bullet points to ensure retention of important data, key points to summarize the take-home messages, suitable images to enhance understanding, and pertinent and appropriate references to allow for further exploration of the topics. This book is ideal for residents and others undergoing neuroanesthesia training. It is also a great tool for Operating Room nurses and other OR support workers, neurosurgical residents and neurointensive care professionals. This will also be a useful book to supplement knowledge for postgraduate fellowship and Board examinations.

  • 31 - Ethical and legal issues

  • from Section 4 - Neurointensive care
  • Edited by Basil F. Matta, David K. Menon, Martin Smith
  • Book:
    Core Topics in Neuroanaesthesia and Neurointensive Care
    Published online:
    05 December 2011
    Print publication:
    13 October 2011, pp 475-487

  • Summary

    Non-neurological complications are common after brain injury and their importance as independent contributors to morbidity and mortality are well recognized. This chapter reviews the aetiology of systemic complications in critically ill neurological patients, identifies options for their prevention and treatment, and considers their effects on outcome. Several central nervous system (CNS)-driven changes contribute to systemic organ dysfunction after brain injury. These include catecholamine- and inflammatory- related effects, as well as endocrine and coagulation abnormalities. The chapter outlines the sequelae of brain injury that are related to endogenous catecholamine release, activation of adrenoceptors and neuroinflammation. It also considers the neuroendocrine and electrolyte disturbance, and other causes of non-neurological organ dysfunction. The complex interaction between the brain and immune system, including the systemic effects of neuroinflammation, is mediated through neuroendocrine pathways including the hypothalamic-pituitary-adrenal axis and autonomic nervous system. Haematological complications, particularly coagulopathy, occur in 20-36% of patients after brain injury.