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Telehealth and telemedicine have encountered explosive growth since the beginning of the COVID-19 pandemic, resulting in increased access to care for patients located far from medical centers and clinics. Subspecialty clinicians in behavioral neurology & neuropsychiatry (BNNP) have implemented the use of telemedicine platforms to perform cognitive examinations that were previously office based. In this perspective article, BNNP clinicians at Massachusetts General Hospital (MGH) describe their experience performing cognitive examinations via telemedicine. The article reviews the goals, prerequisites, advantages, and potential limitations of performing a video- or telephone-based telemedicine cognitive examination. The article shares the approaches used by MGH BNNP clinicians to examine cognitive and behavioral areas, such as orientation, attention and executive functions, language, verbal learning and memory, visual learning and memory, visuospatial function, praxis, and abstract abilities, as well as to survey for neuropsychiatric symptoms and assess activities of daily living. Limitations of telemedicine-based cognitive examinations include limited access to and familiarity with telecommunication technologies on the patient side, limitations of the technology itself on the clinician side, and the limited psychometric validation of virtual assessments. Therefore, an in-person examination with a BNNP clinician or a formal in-person neuropsychological examination with a neuropsychologist may be recommended. Overall, this article emphasizes the use of standardized cognitive and behavioral assessment instruments that are either in the public domain or, if copyrighted, are nonproprietary and do not require a fee to be used by the practicing BNNP clinician.
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COVID-19 , Neurologia , Neuropsiquiatria , Telemedicina , Humanos , Hospitais Gerais , Pandemias , Atividades Cotidianas , Massachusetts , CogniçãoRESUMO
OBJECTIVE: Effective screening tools can help providers with treatment decisions, including when to refer patients for neuropsychological evaluations, which are the gold standard for cognitive assessment of neurodegenerative disease. The authors examined whether performance on the Addenbrooke's Cognitive Examination-Third Edition (ACE-III), a readily available cognitive screening tool for older adults, predicted performance on subsequent neuropsychological evaluations. METHODS: In total, 217 patients referred for neurocognitive concerns completed a neuropsychological evaluation, including the ACE-III. Patients were diagnosed as having normal cognition (NC, N=67), mild neurocognitive disorder (mild NCD, N=105), or major NCD (N=45). Regression analyses were used to determine whether ACE-III subscale scores predicted performance on neuropsychological measures assessing similar constructs. Logistic regression was used to assess whether ACE-III total score and overall neuropsychological test performance predicted diagnosis. Separate analyses compared those with higher and lower educational attainments. ACE-III subscales and total scores were compared by diagnostic group. RESULTS: Across all groups, ACE-III subscale scores predicted within-construct neuropsychological performances with moderate to strong effects (p<0.001) but were less predictive for those with lower educational attainment. ACE-III total score was less sensitive than overall neuropsychological test performance in predicting neurocognitive disorders. ACE-III subscale and total scores distinguished diagnostic groups (NC>mild NCD>major NCD, p<0.001). CONCLUSIONS: ACE-III subscale scores predicted performance on neuropsychological measures assessing similar constructs. However, overall performance on neuropsychological testing was more sensitive than ACE-III total score in predicting neurocognitive disorder diagnosis. Total ACE-III score differed by level of cognitive impairment. Comprehensive neuropsychological testing is recommended for patients who have lower educational status or complex symptom presentations or are younger.
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Disfunção Cognitiva , Demência , Doenças Neurodegenerativas , Humanos , Idoso , Demência/psicologia , Testes Neuropsicológicos , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/psicologia , Cognição , Reprodutibilidade dos Testes , Curva ROCRESUMO
OBJECTIVE: Neuropsychological assessment via video conferencing has been proposed during the COVID-19 pandemic. Existing literature has demonstrated feasibility and acceptance of neuropsychological measures administered by videoconference, although few studies have examined feasibility and patient acceptance of TNP visits directly to patients' homes (DTH-TNP). METHODS: We modified a previously published patient satisfaction survey for DTH-TNP and developed a clinician feasibility survey to examine experiences during DTH-TNP. RESULTS: Seventy-two patients (age range: preschool-geriatric) evaluated by DTH-TNP for cognitive problems at an academic medical center responded to voluntary surveys between April 20, 2020, and August 19, 2020, and 100% indicated satisfaction. Fifty-nine percent of patients reported limitations (e.g., technological concern) during the appointment. 134 clinician surveys were collected and indicated that clinicians achieved the goal of their appointment in 90% of encounters. CONCLUSIONS: These qualitative data suggest that patients and clinicians found DTH-TNP to be satisfactory during the COVID-19 pandemic, while also recognizing limitations of the practice. These results are limited in that voluntary surveys are subject to bias. They support the growing body of literature suggesting that DTH-TNP provides a valuable service, though additional research to establish reliability and validity is needed.
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COVID-19 , Telemedicina , Idoso , Pré-Escolar , Estudos de Viabilidade , Humanos , Neuropsicologia , Pandemias , Reprodutibilidade dos Testes , SARS-CoV-2RESUMO
Ataxia-telangiectasia (AT) is an autosomal recessive, multisystem disease causing cerebellar ataxia, mucocutaneous telangiectasias, immunodeficiency, and malignancies. A pilot study reported cognitive and behavioral manifestations characteristic of the cerebellar cognitive affective / Schmahmann syndrome (CCAS). We set out to test and further define these observations because a more comprehensive understanding of the spectrum of impairments in AT is essential for optimal management. Twenty patients (12 males; 9.86 ± 5.5 years, range 4.3 to 23.2) were grouped by age: AT-I (toddlers and preschoolers, n = 7, 4.3-5.9 years), AT-II (school children, n = 7, 5.9-9.8 years), AT-III (adolescents/young adults, n = 6, 12.6-23.2 years). Standard and experimental tests investigated executive, linguistic, visual-spatial, and affective/social-cognitive domains. Results were compared to standard norms and healthy controls. Cognitive changes in AT-I were limited to mild visual-spatial disorganization. Spatial deficits were greater in AT-II, with low average scores on executive function (auditory working memory), expressive language (vocabulary), academic abilities (math, spelling, reading), social cognition (affect recognition from faces), and emotional/psychological processing. Full Scale IQ scores were low average to borderline impaired. AT-III patients had the greatest level of deficits which were evident particularly in spatial skills, executive function (auditory working memory, sequencing, word/color interference, set-shifting, categorization errors, perseveration), academic achievement, social cognition (affect recognition from faces), and behavioral control. Full Scale IQ scores in this group fell in the impaired range, while language was borderline impaired for comprehension, and low average for expression. Cognitive deficits in AT at a young age are mild and limited to visual-spatial functions. More widespread cognitive difficulties emerge with age and disease progression, impacting executive function, spatial skills, affect, and social cognition. Linguistic processing remains mildly affected. Recognition of the CCAS in children with AT may facilitate therapeutic interventions to improve quality of life.
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Afeto , Ataxia Telangiectasia/psicologia , Disfunção Cognitiva , Adolescente , Ataxia Telangiectasia/genética , Criança , Pré-Escolar , Cognição , Disfunção Cognitiva/genética , Estudos de Coortes , Feminino , Estudos de Associação Genética , Humanos , Masculino , Testes Neuropsicológicos , Qualidade de Vida , Síndrome , Adulto JovemRESUMO
Cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome) is characterized by deficits in executive function, linguistic processing, spatial cognition, and affect regulation. Diagnosis currently relies on detailed neuropsychological testing. The aim of this study was to develop an office or bedside cognitive screen to help identify CCAS in cerebellar patients. Secondary objectives were to evaluate whether available brief tests of mental function detect cognitive impairment in cerebellar patients, whether cognitive performance is different in patients with isolated cerebellar lesions versus complex cerebrocerebellar pathology, and whether there are cognitive deficits that should raise red flags about extra-cerebellar pathology. Comprehensive standard neuropsychological tests, experimental measures and clinical rating scales were administered to 77 patients with cerebellar disease-36 isolated cerebellar degeneration or injury, and 41 complex cerebrocerebellar pathology-and to healthy matched controls. Tests that differentiated patients from controls were used to develop a screening instrument that includes the cardinal elements of CCAS. We validated this new scale in a new cohort of 39 cerebellar patients and 55 healthy controls. We confirm the defining features of CCAS using neuropsychological measures. Deficits in executive function were most pronounced for working memory, mental flexibility, and abstract reasoning. Language deficits included verb for noun generation and phonemic > semantic fluency. Visual spatial function was degraded in performance and interpretation of visual stimuli. Neuropsychiatric features included impairments in attentional control, emotional control, psychosis spectrum disorders and social skill set. From these results, we derived a 10-item scale providing total raw score, cut-offs for each test, and pass/fail criteria that determined 'possible' (one test failed), 'probable' (two tests failed), and 'definite' CCAS (three tests failed). When applied to the exploratory cohort, and administered to the validation cohort, the CCAS/Schmahmann scale identified sensitivity and selectivity, respectively as possible exploratory cohort: 85%/74%, validation cohort: 95%/78%; probable exploratory cohort: 58%/94%, validation cohort: 82%/93%; and definite exploratory cohort: 48%/100%, validation cohort: 46%/100%. In patients in the exploratory cohort, Mini-Mental State Examination and Montreal Cognitive Assessment scores were within normal range. Complex cerebrocerebellar disease patients were impaired on similarities in comparison to isolated cerebellar disease. Inability to recall words from multiple choice occurred only in patients with extra-cerebellar disease. The CCAS/Schmahmann syndrome scale is useful for expedited clinical assessment of CCAS in patients with cerebellar disorders.awx317media15678692096001.
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Doenças Cerebelares/complicações , Doenças Cerebelares/diagnóstico , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/etiologia , Índice de Gravidade de Doença , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Função Executiva , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Testes Neuropsicológicos , Escalas de Graduação Psiquiátrica , Aprendizagem Verbal , Percepção Visual , Adulto JovemRESUMO
Emotion attribution (EA) from faces is key to social cognition, and deficits in perception of emotions from faces underlie neuropsychiatric disorders in which cerebellar pathology is reported. Here, we test the hypothesis that the cerebellum contributes to social cognition through EA from faces. We examined 57 patients with cerebellar disorders and 57 healthy controls. Thirty-one patients had complex cerebrocerebellar disease (complex cerebrocerebellar disease group (CD)); 26 had disease isolated to cerebellum (isolated cerebellar disease group (ID)). EA was measured with the Reading the Mind in the Eyes test (RMET), and informants were administered a novel questionnaire, the Cerebellar Neuropsychiatric Rating Scale (CNRS). EA was impaired in all patients (CD p < 0.001, ID p < 0.001). When analyzed for valence categories, both CD and ID missed more positive and negative stimuli. Positive targets produced the highest deficit (CD p < 0.001, ID p = 0.004). EA impairments correlated with CNRS measures of deficient social skills (p < 0.05) and autism spectrum behaviors (p < 0.005). Patients had difficulties with emotion regulation (CD p < 0.001, ID p < 0.001), autism spectrum behaviors (CD p < 0.049, ID p < 0.001), and psychosis spectrum symptoms (CD p < 0.021, ID p < 0.002). ID informants endorsed deficient social skills (CD p < 0.746, ID p < 0.003) and impaired attention regulation (CD p < 0.144, ID p < 0.001). Within the psychosis spectrum domain, CD patients were worse than controls for lack of empathy (CD p = 0.05; ID p = 0.49). Thus, patients with cerebellar damage were impaired on an EA task associated with deficient social skills and autism spectrum behaviors and experienced psychosocial difficulties on the CNRS. This has relevance for ataxias, the cerebellar cognitive affective/Schmahmann syndrome, and neuropsychiatric disorders with cerebellar pathology.
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Doenças Cerebelares/psicologia , Percepção Social , Habilidades Sociais , Adolescente , Adulto , Atenção , Transtorno do Espectro Autista/psicologia , Doenças Cerebelares/complicações , Cognição , Inteligência Emocional , Empatia , Função Executiva , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Escalas de Graduação Psiquiátrica , Inquéritos e Questionários , Adulto JovemRESUMO
BACKGROUND: In this prospective study, the authors evaluated potential treatment toxicity and progression-free survival in patients with low-grade glioma who received treatment with proton radiation therapy. METHODS: Twenty patients with World Health Organization grade 2 glioma who were eligible for radiation therapy were enrolled in a prospective, single-arm trial of proton therapy. The patients received proton therapy at a dose of 54 Gy (relative biological effectiveness) in 30 fractions. Comprehensive baseline and regular post-treatment evaluations of neurocognitive function, neuroendocrine function, and quality of life (QOL) were performed. RESULTS: All 20 patients (median age, 37.5 years) tolerated treatment without difficulty. The median follow-up after proton therapy was 5.1 years. At baseline, intellectual functioning was within the normal range for the group and remained stable over time. Visuospatial ability, attention/working memory, and executive functioning also were within normal limits; however, baseline neurocognitive impairments were observed in language, memory, and processing speed in 8 patients. There was no overall decline in cognitive functioning over time. New endocrine dysfunction was detected in 6 patients, and all but 1 had received direct irradiation of the hypothalamic-pituitary axis. QOL assessment revealed no changes over time. The progression-free survival rate at 3 years was 85%, but it dropped to 40% at 5 years. CONCLUSIONS: Patients with low-grade glioma tolerate proton therapy well, and a subset develops neuroendocrine deficiencies. There is no evidence for overall decline in cognitive function or QOL.
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Cognição , Glioma/radioterapia , Terapia com Prótons , Adulto , Neoplasias Encefálicas/patologia , Cognição/efeitos da radiação , Intervalo Livre de Doença , Feminino , Glioma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estudos Prospectivos , Terapia com Prótons/efeitos adversos , Qualidade de VidaAssuntos
Afasia Primária Progressiva/etiologia , Degeneração Lobar Frontotemporal/patologia , Lobo Temporal/patologia , Idoso , Autopsia , Encéfalo/diagnóstico por imagem , Química Encefálica , Proteínas de Ligação a DNA/análise , Feminino , Degeneração Lobar Frontotemporal/complicações , Degeneração Lobar Frontotemporal/diagnóstico , Humanos , Tomografia por Emissão de PósitronsAssuntos
Cognição/efeitos dos fármacos , Cognição/fisiologia , Hormônio do Crescimento Humano/farmacologia , Obesidade Abdominal/fisiopatologia , Adulto , Método Duplo-Cego , Função Executiva/efeitos dos fármacos , Função Executiva/fisiologia , Feminino , Humanos , Testes Neuropsicológicos , Projetos Piloto , Fatores de Tempo , Resultado do TratamentoRESUMO
INTRODUCTION: Teleneuropsychology (TNP) became a critical means for providing care during the COVID-19 pandemic and may continue as an option for delivery of neuropsychological services. To understand how patient characteristics impact clinician decisions and service models, this study examines practice patterns within a lifespan outpatient neuropsychology center before, during and post-pandemic. METHODS: Patient volume, demographics, and characteristics were compared across four, 3-month time intervals in 2019-2020. Two baseline intervals when the center was physically open (PO) were compared to one interval when the center was physically closed (PC) (all evaluations were conducted via direct-to-home TNP) and a fourth interval when the center was physically reopened (RO) and evaluations were conducted in one of the three modalities: in-person, virtual only or hybrid (both virtual/in-person). RESULTS: A total of 1,459 total neuropsychological evaluations were conducted with a 64.6% reduction during PC. At RO, the number of evaluations returned to pre-COVID baseline during which in-person (72.4%) evaluations were conducted at a higher rate than hybrid (7.1%) or virtual only (20.4%). Across the lifespan, mean number of appointments to complete evaluations was significantly greater during PC (p< .001) than at other time intervals, and during RO, hybrid evaluations required significantly more appointments (p < .001) than in-person and virtual. The majority of evaluations were conducted with adult patients (71.4%). For adult patients, neurodegenerative/memory disorders received TNP evaluations at a higher rate during PC and RO. Pediatric patients were significantly older during PC (p < .001); neurodevelopmental referrals received more hybrid and virtual evaluations. CONCLUSIONS: Results indicate that patient characteristics, especially age and referral categories, impact the feasibility of TNP. Data from the RO period suggest that in-person evaluations not surprisingly remain the mainstay; however, for adult patients, and especially older adults with neurodegenerative/memory disorders, TNP may provide an important option for delivery of neuropsychological evaluations.
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COVID-19 , Telemedicina , Idoso , Criança , Humanos , Longevidade , Neuropsicologia , Pandemias , SARS-CoV-2RESUMO
PURPOSE OF REVIEW: When evaluating an older adult for a possible neurodegenerative disease, the role of premorbid specific learning disabilities or attention-deficit hyperactivity disorder (ADHD) should be considered. These neurodevelopmental conditions can manifest as lifelong weaknesses and variability in cognitive functions that complicate assessment of cognitive decline. There is also accumulating evidence that certain neurodevelopmental disorders may entail greater risk for specific neurodegenerative disorders. RECENT FINDINGS: We describe clinical cases where diagnosis of neurodegenerative disease was influenced by preexisting neurodevelopmental disorders. We also present a questionnaire to assist with screening for premorbid learning disabilities and ADHD in older adults. SUMMARY: This article offers clinical guidance for practicing neurologists in the identification and assessment of neurodevelopmental disorders in older adult patients, which informs management and treatment. Consideration of lifetime functioning has become increasingly important with research linking neurodevelopmental disabilities to increased risk of specific neurodegenerative diseases.
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Encéfalo/patologia , Lipofuscinoses Ceroides Neuronais/patologia , Adulto , Encéfalo/diagnóstico por imagem , Córtex Cerebral/patologia , Transtornos Cognitivos/etiologia , Diagnóstico Diferencial , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Evolução Fatal , Feminino , Genes Dominantes , Humanos , Lipofuscinoses Ceroides Neuronais/complicações , Lipofuscinoses Ceroides Neuronais/diagnóstico , Lipofuscinoses Ceroides Neuronais/genética , Testes Neuropsicológicos , Linhagem , Radiografia , Convulsões/etiologiaRESUMO
BACKGROUND: Patients with low-grade gliomas (LGG) can survive years with their illness. Proton radiotherapy (PRT) can reduce off-target dose and decrease the risk of treatment-related morbidity. We examined long-term morbidity following proton therapy in this updated prospective cohort of patients with LGG. METHODS: Twenty patients with LGG were enrolled prospectively and received PRT to 54â¯Gy(RBE) in 30 fractions. Comprehensive baseline and longitudinal assessments of toxicity, neurocognitive and neuroendocrine function, quality of life, and survival outcomes were performed up to 5â¯years following treatment. RESULTS: Six patients died (all of disease) and six had progression of disease. Median follow-up was 6.8â¯years for the 14 patients alive at time of reporting. Median progression-free survival (PFS) was 4.5â¯years. Of tumors tested for molecular markers, 71% carried the IDH1-R132H mutation and 29% had 1p/19q co-deletion. There was no overall decline in neurocognitive function; however, a subset of five patients with reported cognitive symptoms after radiation therapy had progressively worse function by neurocognitive testing. Six patients developed neuroendocrine deficiencies, five of which received Dmax ≥20â¯Gy(RBE) to the hypothalamus-pituitary axis (HPA). Most long-term toxicities developed within 2â¯years after radiation therapy. CONCLUSIONS: The majority of patients with LGG who received proton therapy retained stable cognitive and neuroendocrine function. The IDH1-R132H mutation was present in the majority, while 1p/19q loss was present in a minority. A subset of patients developed neuroendocrine deficiencies and was more common in those with higher dose to the HPA.
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Neoplasias Encefálicas/radioterapia , Glioma/radioterapia , Transtornos Neurocognitivos/etiologia , Sistemas Neurossecretores/efeitos da radiação , Terapia com Prótons/métodos , Lesões por Radiação/etiologia , Adulto , Neoplasias Encefálicas/patologia , Progressão da Doença , Feminino , Glioma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Sistemas Neurossecretores/patologia , Intervalo Livre de Progressão , Estudos Prospectivos , Terapia com Prótons/efeitos adversos , Qualidade de VidaRESUMO
OBJECTIVE: To evaluate alterations in apparent axon diameter and axon density obtained by high-gradient diffusion MRI in the corpus callosum of MS patients and the relationship of these advanced diffusion MRI metrics to neurologic disability and cognitive impairment in MS. METHODS: Thirty people with MS (23 relapsing-remitting MS [RRMS], 7 progressive MS [PMS]) and 23 healthy controls were scanned on a human 3-tesla (3T) MRI scanner equipped with 300 mT/m maximum gradient strength using a comprehensive multishell diffusion MRI protocol. Data were fitted to a three-compartment geometric model of white matter to estimate apparent axon diameter and axon density in the midline corpus callosum. Neurologic disability and cognitive function were measured using the Expanded Disability Status Scale (EDSS), Multiple Sclerosis Functional Composite (MSFC), and Minimal Assessment of Cognitive Function in MS battery. RESULTS: Apparent axon diameter was significantly larger and axon density reduced in the normal-appearing corpus callosum (NACC) of MS patients compared to healthy controls, with similar trends seen in PMS compared to RRMS. Larger apparent axon diameter in the NACC of MS patients correlated with greater disability as measured by the EDSS (r = 0.555, P = 0.007) and poorer performance on the Symbol Digits Modalities Test (r = -0.593, P = 0.008) and Brief Visuospatial Memory Test-Revised (r = -0.632, P < 0.01), tests of interhemispheric processing speed and new learning and memory, respectively. INTERPRETATION: Apparent axon diameter in the corpus callosum obtained from high-gradient diffusion MRI is a potential imaging biomarker that may be used to understand the development and progression of cognitive impairment in MS.
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Axônios/patologia , Disfunção Cognitiva/patologia , Corpo Caloso/patologia , Esclerose Múltipla/patologia , Adulto , Imagem de Difusão por Ressonância Magnética , Avaliação da Deficiência , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Crônica Progressiva/patologia , Esclerose Múltipla Recidivante-Remitente/patologiaRESUMO
Posterior Cortical Atrophy (PCA) is a neurodegenerative syndrome that typically presents with predominant visual and spatial impairments. The early diagnostic criteria specify a relative sparing of functioning in other cognitive domains, including executive functions, language, and episodic memory, yet little is known of the cognitive profile of PCA as the disease progresses. Studies of healthy adults and other posterior cortical lesion patients implicate posterior parietal and temporal regions in executive functions of working memory and verbal fluency, both of which may impact episodic memory. Relatively little has been reported about these cognitive functions in PCA, and to our knowledge there has not yet been a study of the impact of such deficits on memory function in PCA. We sought to examine PCA patients' performance on tests of executive function and the associations to verbal episodic memory encoding, storage, and delayed recall. Nineteen individuals with PCA underwent neuropsychological and neuroimaging evaluations as part of a comprehensive clinical assessment. We developed a novel consensus rating method-the Neuropsychological Assessment Rating (NAR) scale-to grade the severity of test performance impairments in selected cognitive domains and subdomains. Hypothesis-driven analyses demonstrated relative deficits in working memory and lexical-semantic retrieval. Preliminary analyses suggested associations between both deficits and atrophy in the left-hemisphere inferior parietal lobule. These executive deficits were also associated with impairments in verbal encoding and delayed recall, but not with recognition discriminability. We conclude that deficits in verbal executive functions impact verbal episodic memory in PCA. Our findings also support theories emphasizing the role of the posterior parietal cortex in supporting executive and lexical-semantic contributions to verbal episodic memory.
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Atrofia/patologia , Função Executiva/fisiologia , Transtornos da Memória/fisiopatologia , Memória de Curto Prazo/fisiologia , Rememoração Mental/fisiologia , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/fisiopatologia , Atrofia/fisiopatologia , Cognição/fisiologia , Feminino , Humanos , Masculino , Transtornos da Memória/patologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Lobo Parietal/fisiopatologia , Aprendizagem Verbal/fisiologiaRESUMO
BACKGROUND: Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condition has not been well characterized. METHODS: We performed comprehensive neurological and neuropsychological evaluations in three adult brothers with JS, ages 32, 27, and 25 years. RESULTS: They all exhibited impaired motor control, global developmental delay most evident in executive function, affect regulation, and social skill set, and similar patterns of neuropsychiatric symptoms. CONCLUSIONS: These findings provide new insights into the intellectual and neurobehavioral phenotype of JS, which we regard as a developmental form of the cerebellar cognitive affective / Schmahmann syndrome (CCAS). These observations have direct clinical relevance for the diagnosis and care of patients with JS, and they help further the understanding of the multiple manifestations of atypical cerebrocerebellar development.
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Tumor Carcinoide/patologia , Encefalite Límbica/diagnóstico , Neoplasias do Mediastino/patologia , Idoso , Doença de Alzheimer/diagnóstico , Tumor Carcinoide/complicações , Tumor Carcinoide/cirurgia , Confusão/etiologia , Diagnóstico Diferencial , Encefalite/diagnóstico , Evolução Fatal , Humanos , Encefalite Límbica/complicações , Pulmão/diagnóstico por imagem , Pulmão/patologia , Imageamento por Ressonância Magnética , Masculino , Neoplasias do Mediastino/complicações , Neoplasias do Mediastino/cirurgia , Mediastino/diagnóstico por imagem , Mediastino/patologia , Transtornos da Memória/etiologia , Testes Neuropsicológicos , Lobo Temporal/patologia , Tomografia Computadorizada por Raios XRESUMO
Cerebellar lesions can cause motor deficits and/or the cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome). We used voxel-based lesion-symptom mapping to test the hypothesis that the cerebellar motor syndrome results from anterior lobe damage whereas lesions in the posterolateral cerebellum produce the CCAS. Eighteen patients with isolated cerebellar stroke (13 males, 5 females; 20-66 years old) were evaluated using measures of ataxia and neurocognitive ability. Patients showed a wide range of motor and cognitive performance, from normal to severely impaired; individual deficits varied according to lesion location within the cerebellum. Patients with damage to cerebellar lobules III-VI had worse ataxia scores: as predicted, the cerebellar motor syndrome resulted from lesions involving the anterior cerebellum. Poorer performance on fine motor tasks was associated primarily with strokes affecting the anterior lobe extending into lobule VI, with right-handed finger tapping and peg-placement associated with damage to the right cerebellum, and left-handed finger tapping associated with left cerebellar damage. Patients with the CCAS in the absence of cerebellar motor syndrome had damage to posterior lobe regions, with lesions leading to significantly poorer scores on language (e.g. right Crus I and II extending through IX), spatial (bilateral Crus I, Crus II, and right lobule VIII), and executive function measures (lobules VII-VIII). These data reveal clinically significant functional regions underpinning movement and cognition in the cerebellum, with a broad anterior-posterior distinction. Motor and cognitive outcomes following cerebellar damage appear to reflect the disruption of different cerebro-cerebellar motor and cognitive loops.
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Doenças Cerebelares/patologia , Doenças Cerebelares/fisiopatologia , Doenças Cerebelares/psicologia , Acidente Vascular Cerebral/complicações , Adulto , Afeto , Idoso , Isquemia Encefálica/complicações , Isquemia Encefálica/patologia , Ataxia Cerebelar/etiologia , Ataxia Cerebelar/patologia , Ataxia Cerebelar/fisiopatologia , Ataxia Cerebelar/psicologia , Doenças Cerebelares/etiologia , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/patologia , Função Executiva , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atividade Motora , Transtornos Motores/etiologia , Transtornos Motores/patologia , Testes Neuropsicológicos , Acidente Vascular Cerebral/patologia , Adulto JovemRESUMO
OBJECTIVE: To determine the association between adiposity, hormones, and cognition in young men with abdominal obesity. METHODS: In this cross-sectional observational study, 53 nondiabetic men with abdominal obesity (mean body mass index, 37.3 kg/m(2) ; age, 22-45 years) and normal intelligence underwent detailed measures of body composition, hormonal profiles, and cognition. Age- and education-adjusted performance in five cognitive domains was examined. RESULTS: Total fat percentage was negatively associated with visuospatial skills (P = 0.002) and visual memory (P = 0.012). Insulin resistance (homeostatic model assessment of insulin resistance) was also negatively associated with these domains (P = 0.05 and trend, P = 0.06, respectively). Total testosterone levels were negatively associated with executive function and verbal learning and memory (P = 0.04 for each), but free testosterone was not. Sex hormone-binding globulin (SHBG) was also inversely associated with performance in these domains (P = 0.015 and trend, P = 0.09, respectively). In a stepwise regression model including percentage fat, homeostatic model assessment of insulin resistance, SHBG, and free testosterone, SHBG was the only variable selected for executive function (P = 0.05) and showed a trend for verbal learning and memory (P = 0.09). CONCLUSIONS: Adiposity and insulin resistance were associated with worse function in visual domains. An unexpected negative association is reported between SHBG and cognitive measures, which seemed to be independent of free testosterone levels.