Direct participation of people with communication disabilities in research on poverty and disabilities in low and middle income countries: A critical review.

INTRODUCTION: An estimated 1 billion people with disabilities live in low and middle income countries, a population that includes people with communication disabilities (PwCD). PwCD are a heterogenous group with a wide range of abilities who may be underrepresented in research due to the communication demands involved in research participation. METHODS: A critical analysis of 145 studies from a previously published systematic review was undertaken with the aim of documenting the opportunities for direct participation of PwCD in research on poverty and disability in low- and middle- income countries. RESULTS: The key finding was the high risk of underrepresentation of PwCD in research on poverty and disability in LMICs, despite low rates of explicit exclusion (n = 8; 5.5%). A total of 366 uses of data collection tools were analysed (255 unique tools). The majority of data collection tools had high communication demands (92.9%), including those measuring disability (88.6%) and those assessing poverty (100%). Only 22 studies (15.2%) specifically included PwCD. A subset of these studies (n = 14) presented disaggregated data in a way that allowed for analysis of outcomes for PwCD, suggesting a clear intersection between poverty and communication disability, with findings related to general poverty indicators, reduced access to education, low levels of employment, and additional expenditure. CONCLUSIONS: The findings suggest a systematic underrepresentation of PwCD in research on poverty and disability with substantial implications for future policy and program planning, directly affecting the availability and provision of services and resources for this population. A failure to provide adequate opportunity for participation of PwCD in research risks leaving those with communication disabilities behind in the pursuit of global poverty eradication.

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.

BACKGROUND: Deletions or duplications of chromosome 19 are rare and there is no previous report in the literature of a ring chromosome derived from proximal 19p. Copy Number Variants (CNVs) responsible for complex phenotypes with Social Communication Disorder (SCD), may contribute to improve knowledge about the distinction between intellectual deficiency and autism spectrum disorders. CASE PRESENTATION: We report the clinical and cytogenetic characterization of a patient (male, 33 years-old, first child of healthy Portuguese non-consanguineous parents) presenting with a complex phenotype including SCD without intellectual deficiency and carrying a mosaic supernumerary ring chromosome 19p. Microarray-Based Comparative Genomic Hybridization and Fluorescence in situ Hybridization were performed. Genetic analysis showed a large mosaic interstitial duplication 19p13.12p12 of the short arm of chromosome 19, spanning 8.35 Mb. Our data suggested a putative association between psychosocial dysfunction and mosaic pure trisomy 19p13.2p12. CONCLUSION: This clinical report demonstrated the need to analyze more discreet trait-based subsets of complex phenotypes to improve the ability to detect genetic effects. To address this question and the broader issue of deciphering the yet unknown genetic contributors to complex phenotype with SCD, we suggest performing systematic psychological and psychiatric assessments in patients with chromosomal abnormalities.

Translating birdsong: songbirds as a model for basic and applied medical research.

Songbirds, long of interest to basic neuroscience, have great potential as a model system for translational neuroscience. Songbirds learn their complex vocal behavior in a manner that exemplifies general processes of perceptual and motor skill learning and, more specifically, resembles human speech learning. Song is subserved by circuitry that is specialized for vocal learning and production but that has strong similarities to mammalian brain pathways. The combination of highly quantifiable behavior and discrete neural substrates facilitates understanding links between brain and behavior, both in normal states and in disease. Here we highlight (a) behavioral and mechanistic parallels between birdsong and aspects of speech and social communication, including insights into mirror neurons, the function of auditory feedback, and genes underlying social communication disorders, and (b) contributions of songbirds to understanding cortical-basal ganglia circuit function and dysfunction, including the possibility of harnessing adult neurogenesis for brain repair.

Predicting comorbidities with neuroimaging in children with cerebral palsy.

A population-based registry was used to ascertain whether neuroimaging findings of children with cerebral palsy could predict the occurrence of certain comorbidities. Neuroimaging findings and comorbidities data were extracted from the Quebec Cerebral Palsy Registry for children born in a 4-year birth interval (1999-2002) covering half of the province's population. Neuroimaging studies were classified into 10 mutually exclusive categories (periventricular white matter injury/leukomalacia, cerebral malformation, cerebral vascular accident, deep gray matter injury, superficial gray matter injury, diffuse gray matter injury, intracranial hemorrhage, infection, nonspecific findings, and normal). Comorbidities studied included cortical blindness, severe auditory impairment, inability to communicate verbally, assisted feeding, and the presence of afebrile seizures in the prior 12 months. Neuroimaging results were available for a total of 213 children. Only deep gray matter injury (defined as signal abnormality or volume loss in subcortical gray matter, n = 9) was significantly (P < 0.05) linked with the occurrence of both the inability to communicate verbally (n = 5, 55.6% vs n = 46, 22.5%, P = 0.04) and with a higher mean number of comorbidities (1.67 vs 0.70, P < 0.01), and therefore with increased burden of comorbidities. These findings may improve our ability to prognosticate the outcome of children with cerebral palsy, enabling targeted early direct interventions.

Network analysis detects changes in the contralesional hemisphere following stroke.

Changes in brain structure occur in remote regions following focal damage such as stroke. Such changes could disrupt processing of information across widely distributed brain networks. We used diffusion MRI tractography to assess connectivity between brain regions in 9 chronic stroke patients and 18 age-matched controls. We applied complex network analysis to calculate 'communicability', a measure of the ease with which information can travel across a network. Clustering individuals based on communicability separated patient and control groups, not only in the lesioned hemisphere but also in the contralesional hemisphere, despite the absence of gross structural pathology in the latter. In our highly selected patient group, lesions were localised to the left basal ganglia/internal capsule. We found reduced communicability in patients in regions surrounding the lesions in the affected hemisphere. In addition, communicability was reduced in homologous locations in the contralesional hemisphere for a subset of these regions. We interpret this as evidence for secondary degeneration of fibre pathways which occurs in remote regions interconnected, directly or indirectly, with the area of primary damage. We also identified regions with increased communicability in patients that could represent adaptive, plastic changes post-stroke. Network analysis provides new and powerful tools for understanding subtle changes in interactions across widely distributed brain networks following stroke.

Evaluation of the psychometric properties and the clinical feasibility of a Chinese version of the Doloplus-2 scale among cognitively impaired older people with communication difficulty.

BACKGROUND: Several behaviourally observed tools have been developed to assess pain among cognitively impaired older people with communication difficulty. However, no adequate pain observation instrument is available for this group in Taiwan. OBJECTIVE: The study was undertaken to translate the French version of the Doloplus-2 scale into Chinese and to evaluate the psychometric properties and the clinical feasibility of the translated instrument. DESIGN: A prospective, descriptive design was used. SETTINGS: Five dementia special care units in the Northern Taiwan were used. PARTICIPANTS: Two hundred and forty-one residents with dementia and 14 registered nurses in charge of these residents were recruited. METHODS: The Doloplus-2 scale was translated into Chinese using the back-translation technique and pilot testing was performed to determine the comprehensibility and the initial psychometric characteristics. Internal consistency and inter-rater reliability were evaluated by Cronbach's alpha and intra-class correlation coefficient, respectively. Based on the known correlated validity model, the association between C-Doloplus-2 and empirically supported correlates of pain such as the past pain history, the presence of pain related condition, functional disability, agitation and depression were examined using Pearson's correlation coefficient for validating the construct validity. Furthermore, factor structure was investigated using Principal Components Analysis. RESULTS: The internal consistency was adequate for the total scale (alpha 0.74) and the subscales (alpha range 0.67-0.87). The intra-class correlation coefficient of the total scale was 0.81 and of the subscales ranged from 0.60 to 0.81. The association between pain latent variable and disability or depression was demonstrated, partially supporting the construct validity. Three factors were extracted to confirm the original three-dimensional structure perfectly, accounting 65% of the total variance. CONCLUSIONS: The psychometric qualities of Chinese Doloplus-2 were supported. Further research is needed to assess the clinical value of the translated scale performed in the institutions.

Autistic features in girls from a psychiatric sample are strongly associated with a low 2D:4D ratio.

Autistic features such as deficits in social interactions and communication have been associated with a low 2D:4D ratio in normal children.This study assessed this association in a large sample of children with a variety of psychiatric disorders (n = 35 girls and n = 147 boys). Autistic features were assessed with a highly valid and reliable measure (Autism Diagnostic Observation Schedule-Generic). Correlations between the 2D:4D ratio and autistic features were computed separately for boys and girls. Some small negative correlations (r = -0.17 and r = -0.19) were found in the right hand for boys; however, particularly in girls, large negative correlations (r = -0.51 to r = -0.64) were found in the left hand. A low 2D:4D ratio in girls was highly predictive of the presence of autistic features. Thus, a low ratio could possibly be used as a diagnostic predictor in clinical practice.

Amygdala enlargement in toddlers with autism related to severity of social and communication impairments.

BACKGROUND: Autism is a heterogeneous neurodevelopmental disorder of unknown etiology. The amygdala has long been a site of intense interest in the search for neuropathology in autism, given its role in emotional and social behavior. An interesting hypothesis has emerged that the amygdala undergoes an abnormal developmental trajectory with a period of early overgrowth in autism; however this finding has not been well established at young ages nor analyzed with boys and girls independently. METHODS: We measured amygdala volumes on magnetic resonance imaging scans from 89 toddlers at 1-5 years of age (mean = 3 years). Each child returned at approximately 5 years of age for final clinical evaluation. RESULTS: Toddlers who later received a confirmed autism diagnosis (32 boys, 9 girls) had a larger right (p < .01) and left (p < .05) amygdala compared with typically developing toddlers (28 boys, 11 girls) with and without covarying for total cerebral volume. Amygdala size in toddlers with autism spectrum disorder correlated with the severity of their social and communication impairments as measured on the Autism Diagnostic Interview and Vineland scale. Strikingly, girls differed more robustly from typical in amygdala volume, whereas boys accounted for the significant relationship of amygdala size with severity of clinical impairment. CONCLUSIONS: This study provides evidence that the amygdala is enlarged in young children with autism; the overgrowth must begin before 3 years of age and is associated with the severity of clinical impairments. However, neuroanatomic phenotypic profiles differ between males and females, which critically affects future studies on the genetics and etiology of autism.

Comunicación oral: aspectos básicos de su desarrollo, patología y tratamiento / Oral comunication: main aspects of its pathology and treatment

Se presenta una perspectiva interdisciplinaria actual incluyendo una introducción a los fundamentos para el diagnóstico y tratamiento de los problemas de la comunicación oral. Está destinada a médicos generales, otorrinolaringólogos pediatras y profesores, en formación. Se hace especial hincapié en aquellos trastornos derivados de problemas auditivos y se presentan los medios actuales avanzados. Asimismo se explica la importancia de promover la creación de nuevas unidades multidisciplinarias para diagnosticar y tratar estos problemas.

A current interdisciplinary perspective including an introduction to the fundamentals of the approach to diagnostic and treatment of speech communication disorders is presented. The diagnostic and therapeutic procedures are presented with special emphasis on those advanced and related to hearing problems. Additionally the importance of promoting new multidisciplinary units is pointed out. The work is destined to general practitioners pediatricians, ENTs, and primary school teachers, under education process.

Dendritic and spinal pathology in the acoustic cortex in Alzheimer's disease: morphological and morphometric estimation by Golgi technique and electron microscopy.

CONCLUSIONS: The morphological and morphometric estimation of the dendrites and the dendritic spines in the acoustic cortex in Alzheimer's disease revealed substantial alterations of the dendritic arborization and marked loss of the dendritic spines. This may be related to communication impairment even in early cases of Alzheimer's disease. OBJECTIVES: Alzheimer's disease is characterized by progressive loss of memory, impairment of judgment, and decline in communication and speech eloquence. In the present study we attempted to describe the morphological and morphometric alterations of the dendrites and the dendritic spines in the acoustic cortex in early cases of Alzheimer's disease, in order to approach the communication impairment of patients suffering from Alzheimer's disease, from the neuropathological point of view. MATERIALS AND METHODS: We studied the acoustic cortex in 22 cases of Alzheimer's disease by Golgi technique and electron microscopy. RESULTS: The morphological and morphometric estimation of the acoustic cortex revealed loss of Cajal-Retzius cells in layer I, as well as an impressive abbreviation of the dendritic fields associated with loss of dendritic spines in all layers of the cortex. Numerous distorted, dystrophic and degenerated dendritic spines were also seen, which were intermixed with a considerable number of giant spines. The dendritic and spinal alterations were closely associated with mitochondrial alterations.

[Communication disorders: differential diagnosis]. / Trastornos de la comunicación: diagnóstico diferencial.

OBJECTIVE: To evaluate components of clinical semiology in the differential diagnosis of communication disorders (TC) and their possible biological markers. We consider two groups, according to the communication disorders themselves and their effects on social interaction. In the first case both aspects are affected in parallel and in the second it is predominantly social interaction which is affected. DEVELOPMENT: In the first groups we studied dyslalias, dyrhrythmias, acquired aphasias, TC relation to epilepsy, types of seizures and EEG discharges. The dysphasia of development and epilepsy may be associated by chance, as a result of the same cause or the epilepsy be responsible for the TC, either because of seizures or continuously (acquired epileptic aphasia, SLK). Based on personal data and the literature we studied the semiology, possible biological markers and differential diagnosis. We consider disorders of neurone migration and metabolic alterations of initial neuropsychological semiology and cerebellar anomalies involved in cognitive functions. In the second group we assessed autism, generalized disorders of development and particular syndromes with semantic pragmatic TC. CONCLUSIONS: The development of language cannot be separated from other aspects of neurological maturation. One cannot affirm that there is a direct relationship between epilepsy and TC, although this does occur in some cases. We accept the hypothesis that SLK, POCSL and atypical EPB are clinical forms of the same syndrome of epilepsy. Recognition of the cognitive affective cerebellar syndrome by its involvement in social executive function, language and personality characterizes certain conditions (Williams, Asperger, fragile X, autism). A progressive rational battery of complementary studies on clinical data is essential to determine biological markers in syndromes which still lack them.

Accessibility of spoken, written, and sign language in Landau-Kleffner syndrome: a linguistic and functional MRI study.

Landau-Kleffner syndrome (LKS) is an acquired aphasia which begins in childhood and is thought to arise from an epileptic disorder within the auditory speech cortex. Although the epilepsy usually subsides at puberty, a severe communication impairment often persists. Here we report on a detailed study of a 26-year old, left-handed male, with onset of LKS at age 5 years, who is aphasic for English but who learned British Sign Language (BSL) at age 13. We have investigated his skills in different language modalities, recorded EEGs during wakefulness, sleep, and under conditions of auditory stimulation, measured brain stem auditory-evoked potentials (BAEP), and performed functional MRI (fMRI) during a range of linguistic tasks. Our investigation demonstrated severe restrictions in comprehension and production of spoken English as well as lip-reading, while reading was comparatively less impaired. BSL was by far the most efficient mode of communication. All EEG recordings were normal, while BAEP showed minor abnormalities. fMRI revealed: 1) powerful and extensive bilateral (R > L) activation of auditory cortices in response to heard speech, much stronger than when listening to music; 2) very little response to silent lip-reading; 3) strong activation in the temporo-parieto-occipital association cortex, exclusively in the right hemisphere (RH), when viewing BSL signs. Analysis of these findings provides novel insights into the disturbance of the auditory speech cortex which underlies LKS and its diagnostic evaluation by fMRI, and underpins a strategy of restoring communication abilities in LKS through a natural sign language of the deaf (with Video)

The effect on risk estimates of excluding cases from a case-control study of ischemic stroke.

There is limited information about the effect on stroke risk estimates of excluding cases who are unable to respond to interviews. A case-control study of ischemic stroke between 1988 and 1990 in Shreveport, La., USA, provided a basis for studying this question. Of 197 consecutively admitted cases of ischemic stroke, 77 were excluded due to dementia, aphasia or impaired consciousness. Information about risk factors and stroke characteristics was obtained from hospital records. Excluded cases had more left hemispheric (52 versus 19%) and fewer vertebrobasilar (12 versus 29%) and lacunar (5 versus 13%) infarcts than included cases. Excluded cases were also older (p < 0.01), and they had larger infarcts (p < 0.01), multiple strokes (p < 0.01) and congestive heart failure (p < 0.01) more often than included cases. Cases were matched to hospital controls by age, sex, race, and date of admission. Odds ratios (ORs) were higher for excluded cases for 5 of 6 exposures with a significantly higher OR for congestive heart failure (p < 0.01). The ORs changed by as much as 63% when excluded cases were added. These results emphasize the importance of acquiring information about excluded cases and considering selection bias when interpreting stroke studies that exclude cases who are unable to respond to interviews.