Neuropsychological profile and social cognition in congenital central hypoventilation syndrome (CCHS): Correlation with neuroimaging in a clinical case
| Autor: | Emily M. Briceño, Borja Esteso Orduña, Javier Melero Llorente, María de la Concepción Fournier Del Castillo, Raquel Seijas Gómez, Elena García Esparza |
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| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty Neuroimaging Congenital central hypoventilation syndrome Neuropsychological Tests Hippocampus Correlation Social Skills 03 medical and health sciences 0302 clinical medicine Social cognition 030225 pediatrics medicine Humans Gliosis Longitudinal Studies Psychiatry Child Correlation of Data Default mode network Neuropsychology Genetic disorder Brain Hypoventilation medicine.disease Magnetic Resonance Imaging Sleep Apnea Central Clinical Psychology Memory Short-Term Neurology Disease Progression Homeobox Parahippocampal Gyrus Neurology (clinical) Psychology Metacognition 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Journal of clinical and experimental neuropsychology. 40(1) |
| ISSN: | 1744-411X |
| Popis: | Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder due to paired-like homeobox gene (PHOX2B) mutations. CCHS patients suffer from dysregulation of the autonomic nervous system characterized by the absence of or extremely reduced response to hypercapnia and hypoxia, with neuropsychological deficits. The aim of this exploratory study is to describe the longitudinal neuropsychological profile and its correlations with magnetic resonance imaging (MRI) of a child with CCHS with a PHOX2B mutation.A comprehensive neuropsychological evaluation was conducted serially at age 7 years 4 months and 10 years 3 months, including assessment of intellectual functioning (IQ), motor functioning, perception, attention, executive functions, language, memory, social cognition, academic skills, and psychopathology. Reliable change index (RCI) scores were used to assess changes between assessments. We collected spin lattice relaxation time (T1)-weighted, fluid-attenuated inversion recovery (FLAIR), and spin spin lattice relaxation time (T2)-weighted images from the child at age 10 years 3 months using a 1.5-tesla MRI scanner.IQ, processing speed index (PSI), social cognition (theory of mind and facial emotion recognition), selective attention, naming, academic skills (reading/comprehension), and manual speed with right hand declined in the second evaluation relative to the initial evaluation, while visuoconstructional praxis, receptive vocabulary, working memory, and arithmetic skill improved. The patient showed a remarkable global deterioration in executive functions (planning, task flexibility, behavioral regulation, and metacognition) as revealed by parental report and clinical evaluation. MRI revealed gliosis from the head to tail of the hippocampus and thinning of parahippocampal gyri.In a clinical case of CCHS, serial evaluation revealed deterioration of executive functions and social cognition over a 3-year interval. These changes corresponded to hippocampal damage as revealed in MRI, which may have affected social cognition through its role in the default mode network. Serial neuropsychological assessment is clinically useful in managing the needs of these patients. |
| Databáze: | OpenAIRE |
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