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PURPOSE: To explore quantitative and qualitative features of anomia in participants with left-hemisphere stroke, Parkinson's disease, or multiple sclerosis. MATERIALS AND METHODS: This descriptive cross-sectional study compares signs of anomia within and across participants (n = 87), divided into four groups; moderate to severe anomia after stroke (MSAS, n = 19), mild anomia after stroke (MAS, n = 22), PD (n = 19) and MS (n = 27). Aspects analysed include naming accuracy and speed, the nature of incorrect responses, semantic and phonemic verbal fluency, information content in re-telling, and the relationship between test results and self-reports on word-finding difficulties and communicative participation. RESULTS: All groups had impaired verbal fluency, prolonged response times and reduced information content in re-telling. The MSAS group had significantly more signs of anomia than the other groups. Results from the other groups overlapped on a MAS-PD-MS continuum. Both semantically and phonologically incorrect responses were common in the stroke groups, while semantically incorrect ones predominated in the PD and MS groups. All four groups reported a similar negative impact on self-perceived communicative participation. Correlations between self-reports and test results were inconsistent. CONCLUSIONS: Anomia features have quantitative and qualitative similarities and differences across neurological conditions.
People with moderate or severe anomia after stroke not only exhibit more severe symptoms of word-finding difficulties but also manifest a wide variety of such symptoms, compared to people with Parkinson's disease or multiple sclerosis.The present findings underscore the need to ask patients about their self-perceived word-finding difficulties.Regardless of the degree of difficulties or the underlying condition, self-perceived word-finding difficulties can have a negative impact on communicative participation and should therefore be appropriately addressed.An assessment comprising aspects such as verbal fluency, connected-speech tasks and the measurement of response times in naming tasks may serve to affirm the self-reported word-finding difficulties.
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Objective: The cerebral substrates of apraxia of speech (AOS) recovery remain unclear. Resting state fMRI post stroke can inform on altered functional connectivity (FC) within cortical language networks. Some initial studies report reduced FC between bilateral premotor cortices in patients with AOS, with lowest FC in patients with the most severe AOS. However, longitudinal FC studies in stroke are lacking. The aims of the present longitudinal study in early post stroke patients with AOS were (i) to compare connectivity strength in AOS patients to that in left hemisphere (LH) lesioned stroke patients without a speech-language impairment, (ii) to investigate the relation between FC and severity of AOS, aphasia and non-verbal oral apraxia (NVOA) and (iii) to investigate longitudinal changes in FC, from the subacute phase to the chronic phase to identify predictors of AOS recovery. Methods: Functional connectivity measures and comprehensive speech-language assessments were obtained at 4 weeks and 6 months after stroke in nine patients with AOS after a LH stroke and in six LH lesioned stroke patients without speech-language impairment. Functional connectivity was investigated in a network for speech production: inferior frontal gyrus (IFG), anterior insula (aINS), and ventral premotor cortex (vPMC), all bilaterally to investigate signs of adaptive or maladaptive changes in both hemispheres. Results: Interhemispheric vPMC connectivity was significantly reduced in patients with AOS compared to LH lesioned patients without speech-language impairment. At 6 months, the AOS severity was associated with interhemispheric aINS and vPMC connectivity. Longitudinal changes in FC were found in individuals, whereas no significant longitudinal change in FC was found at the group level. Degree of longitudinal AOS recovery was strongly associated with interhemispheric IFG connectivity strength at 4 weeks. Conclusion: Early interhemispheric IFG connectivity may be a strong predictor of AOS recovery. The results support the importance of interhemispheric vPMC connection in speech motor planning and severity of AOS and suggest that also bilateral aINS connectivity may have an impact on AOS severity. These findings need to be validated in larger cohorts.
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INTRODUCTION: Anomia affects numerous persons with aphasia. Treatment effects of anomia group therapy have been reported, but the evidence is not comprehensive. This study aimed to explore treatment effects of a naming treatment compared with a non-naming treatment delivered in a group setting. METHODS: In a randomized controlled trial, 17 participants with chronic poststroke aphasia underwent group therapy, 2 hours a session, 3 times per week, for a total of 20 hours. The treatment given in the naming group was modified semantic feature analysis (SFA). Treatment content in the non-naming group comprised auditory comprehension, copying text, and reading. The primary outcome measure was accuracy in confrontation naming of participant-selected trained nouns and verbs. Generalization effects were evaluated in single-word naming, connected speech, and everyday communication. RESULTS: Participants in both groups significantly improved their naming of trained items. There were no differences between the groups. The treatment effect did not remain at follow-up 10 weeks after therapy. No other statistically significant changes occurred in either group. CONCLUSIONS: Group intervention can improve naming ability in individuals with chronic aphasia. However, similar treatment effects can be achieved using a non-naming treatment as using a naming treatment, such as modified SFA. Further research is warranted to identify the most important elements of anomia group therapy.
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Anomia , Afasia , Anomia/terapia , Afasia/terapia , Humanos , Terapia da Linguagem , Semântica , Resultado do TratamentoRESUMO
Purpose: To study the occurrence of speech features commonly associated with Childhood Apraxia of Speech (CAS) in Swedish children with suspected CAS (sCAS) or Speech Sound Disorder (SSD) related to Cleft Palate and/or Lip (CP ± L).Method: Thirty-four children (4.10-5.11) with SSD related to sCAS (n = 15) or repaired CP ± L (n = 19) participated. Consensus judgement of presence/absence of CAS features in single words were based on a checklist with operationalised definitions. Speech sound production measures were based on semi-narrow phonetic transcription. Intra- and inter-transcriber agreement was determined.Result: Twelve participants (ten with sCAS (67%) and two with CP ± L (11%)) shared a CAS profile of phonemic speech inconsistency for consonants and vowels and a set of four features: vowel error, voicing error, difficulty achieving initial articulatory configurations or transitionary movement gestures and stress errors. The most frequent speech difficulties in children with non-CAS CP ± L (n = 17) were consonant distortion (88%) and hypernasal resonance (76%). Prosodic impairment was rare.Conclusion: A distinct CAS speech feature profile was found for children with CAS, differing in number and distribution compared to children with CP ± L and SSD. CAS was found more frequently in CP ± L and SSD compared to reported estimates of clinical prevalence.
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Apraxias , Fissura Palatina , Transtornos do Desenvolvimento da Linguagem , Transtorno Fonológico , Gagueira , Apraxias/diagnóstico , Apraxias/etiologia , Criança , Pré-Escolar , Fissura Palatina/complicações , Humanos , Fonética , Fala , Medida da Produção da Fala , Transtorno Fonológico/diagnóstico , SuéciaRESUMO
The characteristics of children's eye movements during reading change as they gradually become better readers. However, few eye tracking studies have investigated children's reading and reading development and little is known about the relationship between reading- related eye movement measures and reading assessment outcomes. We recorded and analyzed three basic eye movement measures in an ecologically valid eye-tracking set-up. The participants were Swedish children (n = 2876) who were recorded in their normal school environment. The relationship between eye movements and reading assessment outcomes was analyzed in using linear mixed effects models. We found similar age-related changes in eye movement characteristics as established in previous studies, and that eye movements seem to correlate with reading outcome measures. Additionally, our results show that eye movements predict the results on several tests from a word reading assessment. Hence eye tracking may potentially be a useful tool in assessing reading development.
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Objective: Aphasia and apraxia of speech (AOS) after stroke frequently co-occur with a hand motor impairment but few studies have investigated stroke recovery across motor and speech-language domains. In this study, we set out to test the shared recovery hypothesis. We aimed to (1) describe the prevalence of AOS and aphasia in subacute stroke patients with a hand motor impairment and (2) to compare recovery across speech-language and hand motor domains. In addition, we also explored factors predicting recovery from AOS. Methods: Seventy participants with mild to severe paresis in the upper extremity were assessed; 50% of these (n = 35) had left hemisphere (LH) lesions. Aphasia, AOS and hand motor assessments and magnetic resonance imaging were conducted at 4 weeks (A1) and at 6 months (A2) after stroke onset. Recovery was characterized in 15 participants showing initial aphasia that also had complete follow-up data at 6 months. Results: All participants with AOS and/or aphasia had LH lesions. In LH lesioned, the prevalence of aphasia was 71% and of AOS 57%. All participants with AOS had aphasia; 80% of the participants with aphasia also had AOS. Recovery in aphasia (n = 15) and AOS (n = 12) followed a parallel pattern to that observed in hand motor impairment and recovery correlated positively across speech-language and motor domains. The majority of participants with severe initial aphasia and AOS showed a limited but similar amount of recovery across domains. Lesion volume did not correlate with results from behavioral assessments, nor with recovery. The initial aphasia score was the strongest predictor of AOS recovery. Conclusion: Our findings confirm the common occurrence of AOS and aphasia in left hemisphere stroke patients with a hand motor impairment. Recovery was similar across speech-language and motor domains, even in patients with severe impairment, supporting the shared recovery hypothesis and that similar brain recovery mechanisms are involved in speech-language and motor recovery post stroke. These observations contribute to the knowledge of AOS and its relation to motor and language functions and add information that may serve as a basis for future studies of post stroke recovery. Studies including neuroimaging and/or biological assays are required to gain further knowledge on shared brain recovery mechanisms.
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PURPOSE: There is a recognized need for a reliable assessment instrument for apraxia of speech (AOS) diagnosis for post stroke patients. In 2014, Strand and colleagues reported high to excellent intra- and interjudge reliability of the Apraxia of Speech Rating Scale (ASRS) in neurodegenerative speech and language disorders. Excellent interjudge reliability of the ASRS total score has also recently been reported in another study of individuals with chronic AOS after stroke, where the ratings were carried out by two experienced researchers not involved in the development of the instrument. However, it is still not fully determined whether the ASRS is a reliable instrument in assessment of patients in an early phase after stroke, where severe AOS is not uncommon. It is also not determined whether ASRS ratings can be performed reliably by practicing speech-language pathologists (SLPs) without long common experience and joint training. This study therefore addresses these questions. METHOD: The ASRS was administered to thirty-six individuals in the first six months after stroke. The assessment procedures were video recorded. Ten of the recordings were selected for the reliability study, representative of patients typically seen at the actual inpatient ward with varying degrees of AOS severity. Five SLPs from different hospital departments participated as raters. The raters viewed each video and independently rated the presence and severity of AOS using the ASRS. To study intrajudge reliability, a rescoring was performed after a minimum of three weeks. Reliability was calculated using the intraclass correlation coefficient (ICC). RESULTS: Intrajudge agreement for the ASRS total score varied from moderate to excellent (mean ICCâ¯=â¯0.69, 95 % CI [0.60, 0.77]) with most of the mean item level agreements within the categories 'moderate' or 'good. Interjudge reliability was poor for the ASRS total score (ICCâ¯=â¯0.42, 95 % CI [0.35, 0.50]). The item level results varied between moderate and poor, with lack of agreement on several items. CONCLUSIONS: For clinicians without expert knowledge of AOS and limited training using the ASRS, intra- and interjudge reliability of the ASRS is not satisfactory. Also, since some items in the protocol require a certain level of speech production to target the diagnostic marker, findings indicate that the ASRS in its present design has limitations in assessment of severe AOS. As suggested by Strand and colleagues, video examples that illustrate the ASRS characteristics could be one helpful alternative to support clinician training. A minor revision of response definitions of the scale may improve the applicability of the ASRS in severe AOS.
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Apraxias , Medida da Produção da Fala , Acidente Vascular Cerebral , Humanos , Reprodutibilidade dos Testes , FalaRESUMO
BACKGROUND: The Eating Assessment Tool is a self-rating questionnaire developed to assess symptom severity and treatment efficacy in swallowing disorders. The aim of this study was to investigate the structural validity of the Eating Assessment Tool and whether individual item scores differed between dysphagia secondary to neurological and structural/esophageal disorders, respectively. METHODS: This is a prospective cross-sectional questionnaire study. In total, 200 community-dwelling adults with suspected dysphagia referred for fiberoptic endoscopic examination of swallowing at Karolinska University Hospital, Stockholm, Sweden, completed the S-EAT-10. Patients' medical charts were reviewed in order to establish the type of dysphagia. Principal axis factoring was conducted to examine structural validity, and Mann-Whitney U tests were used to study differences in the S-EAT-10 score patterns between different types of dysphagia. RESULTS: One single factor explained 54% of the total variance in EAT-10 item scores. All ten items loaded substantially or strongly on this factor, supporting the single-factor solution (Cronbach's alpha = 0.90). Structural/esophageal dysphagia was associated with higher scores on six items and with a higher total EAT-10 score. CONCLUSIONS: The EAT-10 yields a unidimensional index of symptom severity in patients with dysphagia. Individual item scores reflect typical symptoms in neurogenic and structural/esophageal dysphagia, supporting its clinical relevance.
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Transtornos de Deglutição , Estudos Transversais , Deglutição , Transtornos de Deglutição/diagnóstico , Ingestão de Alimentos , Humanos , Estudos Prospectivos , Reprodutibilidade dos Testes , Inquéritos e Questionários , SuéciaRESUMO
OBJECTIVE: Knowledge about the long-term outcome of high-level language ability in awake surgery patients with low-grade gliomas or cavernomas in language eloquent regions is limited, particularly regarding subtle changes in high-level language abilities. PATIENTS AND METHODS: The study group consisted of 27 patients with LGG or cavernoma which involved language eloquent regions in the left hemisphere. A comprehensive assessment battery was used to target subtle changes in overall high-level language ability as well as in language sub skills. Assessments were made preoperatively and at 3 and 12 months postoperatively. RESULTS: The results showed that overall high-level language ability had not decreased significantly at group level at 3 or 12 months postoperatively. The proportion of patients with a decline of 5 percent or more at follow up 3 and 12 months were 13% and 9% respectively. There was a marked decline in semantic fluency (animals and verbs) at 3 and 12 months postoperatively. Phonemic fluency, while not significantly reduced at three months, improved markedly in the interval between 3 and 12 months. At 12 months, the only significant decline relative to preoperative scores were seen in semantic fluency for animals and verbs. Verbal cognitive speed did not decline significantly postoperatively but approximately 40% of the patients had a decline of 5% or more at 12 months. CONCLUSIONS: Overall high-level language ability was not significantly affected postoperatively at 3 and 12 months in LGG and cavernoma awake surgery patients. Semantic word fluency had deteriorated postoperatively at 3 and 12 months follow-up. Taken together our results indicate a decline in processing speed of verbal material postoperatively in the patient group.
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Neoplasias Encefálicas/cirurgia , Glioma/cirurgia , Hemangioma Cavernoso/cirurgia , Transtornos da Linguagem/etiologia , Transtornos da Linguagem/psicologia , Procedimentos Neurocirúrgicos/métodos , Complicações Pós-Operatórias/psicologia , Adolescente , Adulto , Mapeamento Encefálico , Feminino , Seguimentos , Humanos , Testes de Linguagem , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Semântica , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND/OBJECTIVE: It has been suggested that central auditory processing dysfunction might precede the development of cognitive decline and Alzheimer's disease (AD). The Dichotic Digits Test (DDT) has been proposed as a test of central auditory function. Our objective was to evaluate the predictive capacity of the DDT in conversion from mild cognitive impairment (MCI) to dementia. METHODS: A total of 57 participants (26 females) with MCI were tested at baseline with pure tone audiometry, speech in quiet and in noise, and the DDT. The cognitive outcome was retrieved from medical files after 5 years. Groupwise comparisons of the baseline DDT scores were performed and the relative risk was calculated. RESULTS: Altogether 22 subjects developed any kind of dementia. Of the original 57 individuals within the MCI group, 15 developed AD and 7 developed other types of dementia. There was no significant difference in baseline DDT scores between the participants who converted to AD and those who did not. However, the group who developed other types of dementia (especially frontotemporal dementia) had lower DDT scores in the left ear than those participants who did not develop dementia. With a baseline DDT score below 50% correct responses, the participants diagnosed with MCI had a 2.49-times-higher risk of developing dementia than those with scores of 50% or better. CONCLUSION: The DDT as a central auditory test may be suitable when evaluating cognitive decline.
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Doença de Alzheimer/diagnóstico , Disfunção Cognitiva/fisiopatologia , Audição/fisiologia , Idoso , Doença de Alzheimer/fisiopatologia , Audiometria de Tons Puros , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
BACKGROUND: A traditional curricular structure may challenge integration between foundational and clinical sciences in speech and language pathology (SLP) education. This project aimed to increase curriculum integration at a Swedish SLP education programme. METHODS: Learning outcomes in the existent curriculum were copied from their original courses and re-structured with reference to vertical tracks, in order to address them within and across years of study. A content analysis of interviews with teachers and students was conducted for the evaluation of curricular change. RESULTS: Among the changes were earlier introduction to clinical science and revisiting of foundational sciences later in the education. Theme concepts were defined to scaffold horizontal integration, whereas revisited use of documented material was formalized to ensure vertical integration. In evaluation interviews, multiple examples were provided of how the new curriculum was perceived as being more integrated, with horizontal themes and vertical tracks providing structure. Concerns raised highlight the importance of appointing clear responsibilities. CONCLUSIONS: The concepts "gaps" and "overlaps" may guide remediation of areas where increased curricular integration is warranted. Serial child observations running through the curriculum may provide a platform for both horizontal and vertical integration. For maintenance of curricular integration, clear responsibilities are needed, stretching across course and semester boundaries.
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Patologia da Fala e Linguagem , Fala , Atitude do Pessoal de Saúde , Criança , Currículo , Humanos , Patologia da Fala e Linguagem/educação , SuéciaRESUMO
Screening tests can be performed to identify stroke patients who require further assessment of swallowing function. The Repetitive Saliva Swallowing Test (RSST) is a screening test during which the patient is asked to swallow saliva as many times as possible for 30 s, while deglutition is counted through palpation of the larynx. This study aimed to establish normative values for three age groups of non-patients (total N = 120) on RSST. One patient group (N = 40) was also recruited from a geriatric stroke unit to assess whether RSST scores predicted outcomes on the Standardised Swallowing Assessment-Svenska (SSA-S), a clinical screening tool here used as a reference test. Since the RSST involves the swallowing of saliva, this study also measured the participants' saliva secretion in order to examine its effect on RSST performance. This study showed that RSST results vary with age (lower among older) and gender (higher for men than women), while the number of doctor-prescribed medications, objective saliva secretion and self-assessed dryness of mouth did not affect the performance significantly. In comparison to a more extensive clinical screening procedure (SSA-S), the RSST correctly predicted 93% of negative cases and 69% of positive cases. This suggests that patients who show signs of aspiration according to SSA-S have a lower probability of detection with RSST.
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Transtornos de Deglutição/diagnóstico , Deglutição/fisiologia , Técnicas de Diagnóstico do Sistema Digestório/estatística & dados numéricos , Salivação/fisiologia , Acidente Vascular Cerebral/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Transtornos de Deglutição/etiologia , Feminino , Humanos , Laringe/fisiopatologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Valores de Referência , Saliva , Acidente Vascular Cerebral/complicações , Adulto JovemRESUMO
BACKGROUND/AIM: Central auditory processing disorder (CAPD) might precede the onset of Alzheimer's disease (AD). A method of evaluating CAPD is the dichotic digits test (DDT). The aim was to address this in a longitudinal setting. METHODS: A total of 136 individuals were assessed with peripheral and central hearing tests at baseline and at 5-year follow-up. RESULTS: Subjects with AD showed a significant decline in DDT scores of the right ear from baseline to follow-up. The other groups retained high DDT scores. Peripheral auditory function declined as expected according to age. CONCLUSIONS: Our study indicates that DDT performance reflects an ongoing process resulting in dementia.
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INTRODUCTION: Psychotic experiences are associated with later substance use disorder and suicidal behavior, but individual psychotic experiences have not been examined in a longitudinal data set. Also, the potential dose-response relationship between these phenomena remains unknown. METHOD: Cohort study including 9242 adolescents who participated in The Child and Adolescent Twin Study in Sweden (CATSS). At ages 15 and/or 18, seven psychotic experiences (auditory and visual hallucinations, and five delusions) were assessed via questionnaires. Outcomes at follow-up were physician-assigned diagnoses of substance use disorder and suicide attempts ascertained from the Swedish Patient Register. Associations were estimated with Cox regressions and expressed as hazard ratios. RESULTS: All psychotic experiences were associated with later substance use disorder and/or suicide attempts, with hazard ratios ranging from 1.6 to 3.0. A dose-response relationship was observed between psychotic experiences and later substance use disorder, and suicide attempt. DISCUSSION: Auditory and visual hallucinations as well as delusions in adolescence are associated with later development of substance use disorder and suicide attempt, and there is a dose-response relationship between the load of psychotic experiences and these adverse outcomes. Clinicians should assess subclinical hallucinations as well as delusions in psychiatric evaluations of adolescents.
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Delusões/epidemiologia , Alucinações/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Tentativa de Suicídio , Adolescente , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Modelos de Riscos Proporcionais , Estudos Prospectivos , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/psicologia , Sistema de Registros , SuéciaRESUMO
Conclusion The Swedish Eating Assessment Tool (S-EAT-10) is a reliable and valid self-administered tool in assessment of dysphagia in adult Swedish patients with high internal consistency, reliability, and discriminative validity. The normative data show that a score of 3 or more is abnormal. S-EAT-10 is recommended to be used in preliminary diagnostics of dysphagia. Objective To translate and adapt the EAT-10 for use in the Swedish patient population, and to present norms and measures of discriminative validity and reliability of a Swedish version of the Eating Assessment Tool-10 (S-EAT-10). Methods Prospective consecutive clinical study. In total, 134 community-dwelling adult respondents/controls without dysphagia completed the S-EAT-10, as did 119 patients referred for fiberendoscopic evaluation of swallowing at Karolinska University Hospital, Stockholm, Sweden. Patient vs control status was used as the criterion for discriminative validity assessment by logistic regression analysis. Results The mean S-EAT-10 score was 0.2 (range = 0-3) for controls and 18 (range = 0-38) for patients. Based on a cut-off score of ≥ 3 which was considered to be reflective of abnormalities, sensitivity was 98.5% and specificity 94.1%. Internal consistency reliability was high (Cronbach's alpha = 0.88), as was test-re-test reliability (ICC = 0.90).
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Transtornos de Deglutição/diagnóstico , Ingestão de Alimentos , Comportamento Alimentar , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Transtornos de Deglutição/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Inquéritos e Questionários , Adulto JovemRESUMO
Few comprehensive spelling tests are available in Swedish, and none have been validated in adults with reading and writing disorders. The recently developed STAVUX test includes word and pseudoword spelling subtests with high internal consistency and adult norms stratified by education. This study evaluated the convergent and diagnostic validity of STAVUX in adults with dyslexia. Forty-six adults, 23 with dyslexia and 23 controls, took STAVUX together with a standard word-decoding test and a self-rated measure of spelling skills. STAVUX subtest scores showed moderate to strong correlations with word-decoding scores and predicted self-rated spelling skills. Word and pseudoword subtest scores both predicted dyslexia status. Receiver-operating characteristic (ROC) analysis showed excellent diagnostic discriminability. Sensitivity was 91% and specificity 96%. In conclusion, the results of this study support the convergent and diagnostic validity of STAVUX.
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Dislexia/diagnóstico , Testes de Linguagem , Leitura , Redação , Adulto , Área Sob a Curva , Estudos de Casos e Controles , Compreensão , Dislexia/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Curva ROC , Reprodutibilidade dos Testes , Adulto JovemRESUMO
Studies suggest associations between childhood autistic traits and adolescent psychotic experiences. However, recent research suggests that a general neuropsychiatric problems factor predicts adverse outcomes better than specific diagnostic entities. To examine if the alleged association between autistic traits and psychotic experiences could rather be explained by a general neuropsychiatric problems factor comprising symptoms of ADHD, tic disorder, developmental coordination disorder, and learning disorder, we conducted a prospective cohort study based on the Child and Adolescent Twin Study in Sweden. In addition, we examined the genetic and environmental influences on the associations. A total of 9,282 twins with data on childhood autistic traits and other neuropsychiatric problems, and follow-up data on psychotic experiences at ages 15 and/or 18 years were included. First, psychotic experiences were regressed on autistic traits and second, the general neuropsychiatric problems factor was added to the model. Auditory hallucinations were analyzed separately from the other psychotic experiences. Finally, twin analyses were employed to disentangle genetic from environmental influences in the observed associations. Replicating prior research, significant associations were found between autistic traits in childhood and auditory hallucinations at ages 15 and 18. However, after controlling for the general neuropsychiatric problems factor, the associations between autistic traits and auditory hallucinations disappeared, whereas the association between the general neuropsychiatric problems factor and auditory hallucinations persisted after controlling for autistic traits. Twin analyses revealed that the association between the general neuropsychiatric problems factor and auditory hallucinations was driven by shared genetic influences. © 2015 Wiley Periodicals, Inc.
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Transtorno Autístico/complicações , Neuropsiquiatria , Transtornos Psicóticos/complicações , Adolescente , Criança , Feminino , Alucinações/complicações , Humanos , Masculino , Fenótipo , Análise de RegressãoRESUMO
OBJECTIVES: Darier disease is an autosomal dominant skin disorder caused by mutations in the ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2) gene and previously reported to cosegregate with bipolar disorder and schizophrenia in occasional pedigrees. It is, however, unknown whether these associations exist also in the general population, and the objective of this study was to examine this question. METHODS: We compared a national sample of individuals with Darier disease and their first-degree relatives with matched unexposed individuals from the general population and their first-degree relatives, respectively. To examine risks for bipolar disorder and schizophrenia, risk ratios and 95% confidence intervals (CIs) were estimated using conditional logistic regressions. RESULTS: Individuals with Darier disease had a 4.3 times higher risk of being diagnosed with bipolar disorder (95% CI: 2.6-7.3) and a 2.3 times higher risk of being diagnosed with schizophrenia (95% CI: 1.1-5.2) than matched individuals from the general population. Relatives of individuals with Darier disease had a 1.6 times higher risk of having bipolar disorder (95% CI: 1.1-2.5) than relatives of matched individuals from the general population, but no increased risk of schizophrenia (risk ratio = 0.8, 95% CI: 0.4-1.8). CONCLUSIONS: The association between Darier disease and bipolar disorder is manifest also in the population, and our data suggest that genetic variability within the ATP2A2 gene that causes Darier disease also confers susceptibility for bipolar disorder. The Darier-causing mutations merit additional attention in molecular genetic research on bipolar disorder.
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Transtorno Bipolar/genética , Doença de Darier/genética , Sistema de Registros , ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/genética , Esquizofrenia/genética , Transtorno Bipolar/epidemiologia , Estudos de Coortes , Doença de Darier/epidemiologia , Predisposição Genética para Doença , Humanos , Razão de Chances , Linhagem , Risco , Esquizofrenia/epidemiologia , Suécia/epidemiologiaRESUMO
Supraspan verbal list learning is widely used to assess dementia and related cognitive disorders where declarative memory deficits are a major clinical sign. While the overall learning rate is important for diagnosis, serial position patterns may give insight into more specific memory processes in patients with cognitive impairment. This study explored these patterns in a memory clinic clientele. One hundred eighty three participants took the Rey Auditory-Verbal Learning Test (RAVLT). The major groups were patients with Alzheimer's disease (AD), Vascular Dementia (VD), Mild Cognitive Impairment (MCI), and Subjective Cognitive Impairment (SCI) as well as healthy controls (HC). Raw scores for the five trials and five serial partitions were factor analysed. Three memory factors were found and interpreted as Primacy, Recency, and Resistance to Interference. AD and MCI patients had impaired scores in all factors. SCI patients were significantly impaired in the Resistance to Interference factor, and in the Recency factor at the first trial. The main conclusion is that serial position data from word list testing reflect specific memory capacities which vary with levels of cognitive impairment.
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Envelhecimento/psicologia , Transtornos Cognitivos/diagnóstico , Disfunção Cognitiva/diagnóstico , Memória/fisiologia , Fatores Etários , Idoso , Transtornos Cognitivos/psicologia , Disfunção Cognitiva/psicologia , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Psicometria , Índice de Gravidade de Doença , Fatores SexuaisRESUMO
Morphology of the corpus callosum is a useful biomarker of neuronal loss, as different patterns of cortical atrophy help to distinguish between dementias such as Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD). We used a sophisticated morphometric analysis of the corpus callosum in FTLD subtypes including frontotemporal dementia (FTD), semantic dementia (SD), and progressive non-fluent aphasia (PNFA), and compared them to AD patients and 27 matched controls. FTLD patient subgroups diverged in their callosal morphology profiles, with FTD patients showing marked widespread differences, PNFA patients with differences largely in the anterior half of the callosum, and SD patients differences in a small segment of the genu. AD patients showed differences in predominantly posterior callosal regions. This study is consistent with our previous findings showing significant cortical and subcortical regional atrophy across FTLD subtypes, and suggests that callosal atrophy patterns differentiate AD from FTLD, and FTLD subtypes.