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Neurocognitive functioning in individuals with congenital central hypoventilation syndrome

التفاصيل البيبلوغرافية
العنوان: Neurocognitive functioning in individuals with congenital central hypoventilation syndrome
المؤلفون: Maria Caldas-Vasquez, H. Emanuel, R.A. Mosquera, Kelly T. Macdonald, Kimberly Rennie, Aravind Yadav
المصدر: BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-8 (2020)
سنة النشر: 2020
مصطلحات موضوعية: Adult, Adolescent, CCHS, Population, Context (language use), Congenital central hypoventilation syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Cognitive skill, education, Child, Neurocognition, Homeodomain Proteins, education.field_of_study, business.industry, 05 social sciences, Neuropsychology, lcsh:RJ1-570, 050301 education, Infant, Cognition, lcsh:Pediatrics, Hypoventilation, PARMs, medicine.disease, Sleep Apnea, Central, 030228 respiratory system, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, business, 0503 education, Psychosocial, Neurocognitive, Clinical psychology, Transcription Factors, Research Article
الوصف: Background Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by respiratory system abnormalities, including alveolar hypoventilation and autonomic nervous system dysregulation. CCHS is associated with compromised brain development and neurocognitive functioning. Studies that evaluate cognitive skills in CCHS are limited, and no study has considered cognitive abilities in conjunction with psychosocial and adaptive functioning. Moreover, the roles of pertinent medical variables such as genetic characteristics are also important to consider in the context of neurocognitive functioning. Methods Seven participants with CCHS ranging in age from 1 to 20 years underwent neuropsychological evaluations in a clinic setting. Results Neurocognitive testing indicated borderline impaired neurocognitive skills, on average, as well as relative weaknesses in working memory. Important strengths, including good coping skills and relatively strong social skills, may serve as protective factors in this population. Conclusion CCHS was associated with poor neurocognitive outcomes, especially with some polyalanine repeat expansion mutations (PARMS) genotype. These findings have important implications for individuals with CCHS as well as medical providers for this population.
تدمد: 1471-2431
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edf299b5caa12b857287f50b8afa38ea
https://pubmed.ncbi.nlm.nih.gov/32375736
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....edf299b5caa12b857287f50b8afa38ea
قاعدة البيانات: OpenAIRE
الوصف
تدمد:14712431