RESUMO
Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies. Non-right-handedness (NRH) frequency was assessed in N = 2503 cases with reading and/or language impairment and N = 4316 sex-matched controls identified from 10 distinct cohorts (age range 6-19 years old; European ethnicity) using a priori set criteria. A meta-analysis (Ncases = 1994) showed elevated NRH % in individuals with language/reading impairment compared with controls (OR = 1.21, CI = 1.06-1.39, p = .01). The association between reading/language impairments and NRH could result from shared pathways underlying brain lateralization, handedness, and cognitive functions.
Assuntos
Lateralidade Funcional , Leitura , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Prevalência , Idioma , EncéfaloRESUMO
Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 different single-nucleotide variants. A nonsynonymous polymorphism in DCDC2 (corrected P = 0.002) and a noncoding variant in S100B (corrected P = 0.016) showed a significant association with spelling performance in families of German origin. No significant association was found for the variants neither in the Finnish case-control sample set nor in the Finnish family sample set. Our findings further strengthen the role of DCDC2 and implicate S100B, in the biology of reading and spelling.
Assuntos
Dislexia/genética , Proteínas Associadas aos Microtúbulos/genética , Subunidade beta da Proteína Ligante de Cálcio S100/genética , Estudos de Casos e Controles , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
Comprehensive models of learning disorders have to consider both isolated learning disorders that affect one learning domain only, as well as comorbidity between learning disorders. However, empirical evidence on comorbidity rates including all three learning disorders as defined by DSM-5 (deficits in reading, writing, and mathematics) is scarce. The current study assessed prevalence rates and gender ratios for isolated as well as comorbid learning disorders in a representative sample of 1633 German speaking children in 3rd and 4th Grade. Prevalence rates were analysed for isolated as well as combined learning disorders and for different deficit criteria, including a criterion for normal performance. Comorbid learning disorders occurred as frequently as isolated learning disorders, even when stricter cutoff criteria were applied. The relative proportion of isolated and combined disorders did not change when including a criterion for normal performance. Reading and spelling deficits differed with respect to their association with arithmetic problems: Deficits in arithmetic co-occurred more often with deficits in spelling than with deficits in reading. In addition, comorbidity rates for arithmetic and reading decreased when applying stricter deficit criteria, but stayed high for arithmetic and spelling irrespective of the chosen deficit criterion. These findings suggest that the processes underlying the relationship between arithmetic and reading might differ from those underlying the relationship between arithmetic and spelling. With respect to gender ratios, more boys than girls showed spelling deficits, while more girls were impaired in arithmetic. No gender differences were observed for isolated reading problems and for the combination of all three learning disorders. Implications of these findings for assessment and intervention of learning disorders are discussed.
Assuntos
Deficiências da Aprendizagem/epidemiologia , Criança , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Matemática , Prevalência , Leitura , Fatores Sexuais , Classe Social , RedaçãoRESUMO
BACKGROUND: The relationship between phoneme awareness, rapid automatized naming (RAN), verbal short-term/working memory (ST/WM) and diagnostic category is investigated in control and dyslexic children, and the extent to which this depends on orthographic complexity. METHODS: General cognitive, phonological and literacy skills were tested in 1,138 control and 1,114 dyslexic children speaking six different languages spanning a large range of orthographic complexity (Finnish, Hungarian, German, Dutch, French, English). RESULTS: Phoneme deletion and RAN were strong concurrent predictors of developmental dyslexia, while verbal ST/WM and general verbal abilities played a comparatively minor role. In logistic regression models, more participants were classified correctly when orthography was more complex. The impact of phoneme deletion and RAN-digits was stronger in complex than in less complex orthographies. CONCLUSIONS: Findings are largely consistent with the literature on predictors of dyslexia and literacy skills, while uniquely demonstrating how orthographic complexity exacerbates some symptoms of dyslexia.
Assuntos
Conscientização , Comparação Transcultural , Dislexia/diagnóstico , Memória de Curto Prazo , Fonética , Semântica , Comportamento Verbal , Aprendizagem Verbal , Criança , Europa (Continente) , Feminino , Humanos , Masculino , Testes Neuropsicológicos/estatística & dados numéricos , Psicolinguística , Psicometria , Valores de Referência , VocabulárioRESUMO
OBJECTIVE: The objective of this survey was to investigate undergraduate German medical students' attitudes toward child and adolescent psychiatry (CAP) and to describe the characteristics of students considering CAP as a possible career choice. METHODS: The authors conducted a cross-sectional, multicenter survey of medical students (at the time of their first CAP lecture) at seven German medical schools. The students completed an anonymous self-report questionnaire, asking about their attitude toward CAP and their view of CAP as a possible career choice. RESULTS: Of the 574 students, 42.9% had "high" or "very high" interest in CAP, and 59.4% rated CAP basic knowledge as "highly" or "very highly" relevant for their prospective work as physicians. CAP was a possible career choice for 25.4%. The most frequently mentioned reasons for choosing CAP were interesting clinical cases (65.8%), helping ill children (52.1%), and close patient-physician contact (50.7%). The most frequently mentioned reasons against this decision were a definite decision for another subspecialty (54.8%), expected difficulties in working with parents and family members (35.3%), and an expected high emotional burden (29.6%). In addition to the highly significant correlation with general interest in CAP, students with previous experience in general psychiatry and CAP clinical courses, as well as female students and students with relatives or acquaintances with CAP-related disorders, showed the highest interest in CAP as a possible career choice. CONCLUSION: The majority of the students surveyed showed a positive attitude toward CAP and considered CAP basic knowledge to be relevant for their future work. When designing recruitment strategies, it may be helpful to consider that CAP exposure early in the curriculum might be decisive and that students with previous clinical courses in this field, as well as female students, showed the highest interest in CAP as a possible career choice.
Assuntos
Psiquiatria do Adolescente , Escolha da Profissão , Psiquiatria Infantil , Seleção de Pessoal/métodos , Estudantes de Medicina/psicologia , Psiquiatria do Adolescente/educação , Adulto , Atitude , Psiquiatria Infantil/educação , Estudos Transversais , Feminino , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Inquéritos e Questionários , Recursos HumanosRESUMO
Dyslexia affects 5-10% of school-aged children and is therefore one of the most common learning disorders. Research on auditory event related potentials (AERP), particularly the mismatch negativity (MMN) component, has revealed anomalies in individuals with dyslexia to speech stimuli. Furthermore, candidate genes for this disorder were found through molecular genetic studies. A current challenge for dyslexia research is to understand the interaction between molecular genetics and brain function, and to promote the identification of relevant endophenotypes for dyslexia. The present study examines MMN, a neurophysiological correlate of speech perception, and its potential as an endophenotype for dyslexia in three groups of children. The first group of children was clinically diagnosed with dyslexia, whereas the second group of children was comprised of their siblings who had average reading and spelling skills and were therefore "unaffected" despite having a genetic risk for dyslexia. The third group consisted of control children who were not related to the other groups and were also unaffected. In total, 225 children were included in the study. All children showed clear MMN activity to/da/-/ba/contrasts that could be separated into three distinct MMN components. Whilst the first two MMN components did not differentiate the groups, the late MMN component (300-700 ms) revealed significant group differences. The mean area of the late MMN was attenuated in both the dyslexic children and their unaffected siblings in comparison to the control children. This finding is indicative of analogous alterations of neurophysiological processes in children with dyslexia and those with a genetic risk for dyslexia, without a manifestation of the disorder. The present results therefore further suggest that the late MMN might be a potential endophenotype for dyslexia.
Assuntos
Dislexia/fisiopatologia , Potenciais Evocados Auditivos/fisiologia , Adolescente , Estudos de Casos e Controles , Criança , Dislexia/genética , Dislexia/psicologia , Eletroencefalografia , Endofenótipos , Potenciais Evocados Auditivos/genética , Feminino , Humanos , Inteligência , Masculino , Fenômenos Fisiológicos do Sistema Nervoso , Irmãos/psicologiaRESUMO
OBJECTIVE: In child and adolescent psychiatry (CAP) lectures are the most common teaching format for medical students. Besides conveying basic knowledge and skills related to the medical management of children and adolescents with mental health problems, lectures also play a decisive role in the recruitment of future residents for this discipline. Thus, knowledge of the expectations of medical students of lectures is a crucial factor. METHOD: 1,029 medical students at ten German medical schools were surveyed with a questionnaire in a cross-sectional design. RESULTS: Items perceived as most important were knowledge of disorders (73 %), medical skills in handling children and adolescents (61 %), and differential diagnosis of normal and abnormal child behaviour in children and adolescents (59 %). 71 % set a high value on patient presentation, while 41 % expressed ethical concerns about presenting mentally ill minors in lectures. CONCLUSIONS: The expectations of medical students toward CAP lectures are mainly related to the transfer of specialty-related knowledge and generic skills. The important area of teaching attitudes could best be covered via patient presentations, which are desired by most students. However, ethical concerns over patient presentation also need to be discussed with students.
Assuntos
Psiquiatria do Adolescente/educação , Atitude do Pessoal de Saúde , Psiquiatria Infantil/educação , Estudantes de Medicina/psicologia , Adolescente , Adulto , Criança , Currículo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto JovemRESUMO
Four genes, DYX1C1, ROBO1, DCDC2 and KIAA0319 have been studied both genetically and functionally as candidate genes for developmental dyslexia, a common learning disability in children. The identification of novel genes is crucial to better understand the molecular pathways affected in dyslectic individuals. Here, we report results from a fine-mapping approach involving linkage and association analysis in Finnish and German dyslexic cohorts. We restrict a candidate region to 0.3 Mb on chromosome 7q33. This region harbours the gene diacylglycerol kinase, iota (DGKI) which contains overlapping haplotypes associated with dyslexia in both Finnish and German sample sets.
Assuntos
Alelos , Mapeamento Cromossômico , Cromossomos Humanos Par 7/genética , Diacilglicerol Quinase/genética , Dislexia/genética , Estudos de Associação Genética , Variação Genética/genética , Genética Populacional , Polimorfismo de Nucleotídeo Único/genética , Criança , Estudos de Coortes , Feminino , Finlândia , Marcadores Genéticos/genética , Genótipo , Alemanha , Haplótipos , Humanos , Estudos Longitudinais , Masculino , FenótipoRESUMO
In a genome-wide linkage scan, we aimed at mapping risk loci for dyslexia in the German population. Our sample comprised 1,030 individuals from 246 dyslexia families which were recruited through a single-proband sib pair study design and a detailed assessment of dyslexia and related cognitive traits. We found evidence for a major dyslexia locus on chromosome 6p21. The cognitive trait rapid naming (objects/colors) produced a genome-wide significant LOD score of 5.87 (P = 1.00 × 10â»7) and the implicated 6p-risk region spans around 10 Mb. Although our finding maps close to DYX2, where the dyslexia candidate genes DCDC2 and KIAA0319 have already been identified, our data point to the presence of an additional risk gene in this region and are highlighting the impact of 6p21 in dyslexia and related cognitive traits.
Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 6/genética , Cognição , Dislexia/genética , Predisposição Genética para Doença , Locos de Características Quantitativas/genética , Criança , Feminino , Ligação Genética , Marcadores Genéticos , Humanos , MasculinoRESUMO
A multi-marker haplotype within GRIN2B, a gene coding for a subunit of the ionotropic glutamate receptor, has recently been found to be associated with variation in human memory performance [de Quervain and Papassotiropoulos, 2006]. The gene locus is located within a region that has been linked to a phonological memory phenotype in a recent genome scan in families with dyslexia [Brkanac et al., 2008]. These findings may indicate the involvement of GRIN2B in memory-related aspects of human cognition. Memory performance is one of the cognitive functions observed to be disordered in dyslexia patients. We therefore investigated whether genetic variation in GRIN2B contributes to specific quantitative measures in a German dyslexia sample by genotyping 66 SNPs in its entire genomic region. We found supportive evidence that markers in intron 3 are associated with short-term memory in dyslexia, and were able to demonstrate that this effect is even stronger when only maternal transmission is considered. These results suggest that variation within GRIN2B may contribute to the genetic background of specific cognitive processes which are correlates of the dyslexia phenotype.