From zero to a hundred in a split second: understanding aggression in an eight-year-old child.
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Aggression↗
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Contemporary issues in audiology: a hearing scientist's perspective.
Audiology has developed significantly over the last 30 years leading to better identification and assessment of hearing loss and better habilitation services for both children and adults with congenital or acquired deafness. Advancement in the profession and its services has been largely dependent on the technological development of key methodologies such as the auditory brainstem response and otoacoustic emissions. These methodologies have been used for the identification and assessment of the severity of hearing loss. As a result, these methodologies have underpinned the emergence of service development initiatives such as hearing screening and provision of hearing aids, particularly for newborn babies and young children. This review identifies, describes and evaluates the key methodologies and services involved and presents a hearing scientist's perspective on the developments to date. The aim is to provide state-of-the-art information to those working with children and adults with communication disorders, particularly speech and language therapists.
Adult↗
Perceptions of speech and language therapy amongst UK school and college students: implications for recruitment.
BACKGROUND: Communication disorders affect both sexes and people from all ethnic groups, but members of minority ethnic groups and males in the UK are underrepresented in the speech and language therapy profession. Research in the area of recruitment is limited, but a possible explanation is poor awareness and understanding of speech and language therapy as a profession. AIMS: To investigate factors influencing attitudes to a career in speech and language therapy amongst UK school and college students focusing on the similarities and differences between males and females, and between minority ethnic and white students. METHODS & PROCEDURES: A total of 651 male and female school and college students from a range of ethnic groups and all close to selecting degree courses completed a questionnaire designed to examine the attitudes and awareness of speech and language therapy. Eleven semi-structured follow-up interviews were conducted to help understand the questionnaire findings. Quantitative and qualitative analyses examined differences in attitudes and the awareness of speech and language therapy amongst these groups. OUTCOMES & RESULTS: Overall, one-third of participants said they knew nothing about speech and language therapy, and males were significantly less familiar with it. Less than half the participants were aware that speech and language therapy is a degree course, and minority ethnic participants were significantly less likely to know this. Compared with males, females were almost five times as likely to say they would consider a career in speech and language therapy. Participants with relatives in health-related jobs were significantly more likely to consider speech and language therapy than those without such relatives. Compared with white participants, minority ethnic participants said they placed greater importance on studying for a degree, a profession and a scientific career, and were more influenced by a career's prestige and a high salary. CONCLUSIONS: In order to increase the ethnic and gender diversity of speech and language therapists, the profile of the profession needs to be raised with increased awareness of the degree level courses, the scientific, evidence-based nature of the work, and current salary scales.
Adolescent↗
Genomewide significant linkage to stuttering on chromosome 12.
Stuttering is a common and sometimes severe communication disorder, of unknown primary etiology, that exists in populations worldwide. Many types of evidence suggest a genetic contribution to stuttering; however, the complex inheritance of this disorder has hindered identification of these factors. We have employed highly inbred families to increase the power of linkage analysis of this disorder. Forty-four Pakistani families with documented or probable consanguinity, from the city of Lahore and surrounding areas, were included. Each family contained multiple cases of stuttering, which were diagnosed using the Stuttering Severity Instrument. Using the Marshfield Weber 9 marker panel, we performed a genomewide linkage scan focused on affected individuals and their parents. The analysis included 199 genotyped individuals, 144 affected and 55 unaffected. The Pedigree Relationship Statistical Test (PREST) was used to identify pedigrees that required additional specification of inbreeding. Initial nonparametric analysis gave evidence of linkage on chromosomes 1, 5, 7, and 12. Additional genotyping was performed on chromosome 12 to a 5-cM level of resolution, and 16 additional individuals were then included, bringing the number of families to 46. Analysis of the enlarged data set provided consistent evidence of linkage on chromosome 12: the S(homoz) scoring function gave a nonparametric LOD score of 4.61, and a LOD score of 3.51 was obtained using the S(all) scoring function. These results suggest that a locus on chromosome 12q may contain a gene with a large effect in this sample.
Chromosome Mapping↗
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
FOXP2, the first gene to have been implicated in a developmental communication disorder, offers a unique entry point into neuromolecular mechanisms influencing human speech and language acquisition. In multiple members of the well-studied KE family, a heterozygous missense mutation in FOXP2 causes problems in sequencing muscle movements required for articulating speech (developmental verbal dyspraxia), accompanied by wider deficits in linguistic and grammatical processing. Chromosomal rearrangements involving this locus have also been identified. Analyses of FOXP2 coding sequence in typical forms of specific language impairment (SLI), autism, and dyslexia have not uncovered any etiological variants. However, no previous study has performed mutation screening of children with a primary diagnosis of verbal dyspraxia, the most overt feature of the disorder in affected members of the KE family. Here, we report investigations of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia. We detected variants that alter FOXP2 protein sequence in three probands. One such variant is a heterozygous nonsense mutation that yields a dramatically truncated protein product and cosegregates with speech and language difficulties in the proband, his affected sibling, and their mother. Our discovery of the first nonsense mutation in FOXP2 now opens the door for detailed investigations of neurodevelopment in people carrying different etiological variants of the gene. This endeavor will be crucial for gaining insight into the role of FOXP2 in human cognition.
Alternative Splicing↗
Weight loss in Alzheimer disease.
BACKGROUND: Epidemiologic studies have shown that weight loss is commonly associated with Alzheimer disease (AD) and is a manifestation of the disease itself. The etiology of weight loss in AD appears multifactorial. Hypotheses to explain the weight loss have been suggested (eg, atrophy of the mesial temporal cortex, biological disturbances, and higher energy expenditure); however, none have been proven. OBJECTIVE: In the first part of this article, we describe weight loss in AD (epidemiologic data and hypotheses to explain weight loss and anorexia in AD). In the second part we report the results of a longitudinal study of the changes in nutritional variables in a cohort of patients with a probable diagnosis of AD. DESIGN: We followed subjects with AD (based on criteria of the National Institute of Neurological and Communicative Disorders and Stroke/Alzheimer's Disease and Related Disorders Association) who were recruited from the Alzheimer's Disease Center in Toulouse. All subject underwent a nutritional, neuropsychologic, and functional evaluation. The Zarit scales were used to assess caregiver burden and caregiver reactions to the patients' behavioral and autonomic disorders. RESULTS: We showed that only results of the Burden Interview and the Memory and Behavior Problems Checklist, which explored caregiver burden, predicted weight loss in AD. It is possible that caregivers who consider themselves overburdened by the disease process are not willing to invest adequate resources to allow AD patients to properly nourish themselves. CONCLUSION: Nutritional education programs for the caregivers of AD patients seem to be the best way to prevent weight loss and improve the nutritional status of these patients.
Alzheimer Disease↗
Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).
Ten affected individuals are described from a kindred with autosomal dominant familial Alzheimer's disease in which a mutation in the amyloid precursor protein gene results in a valine to glycine substitution at amyloid precursor protein 717 which co-segregates with the disease. The mean age at onset of symptoms was 52 years with a range from 40 years to 67 years. The median duration of the disease was 11 years, with a range of 7-16 years. All individuals fulfilled the National Institute for Neurological and Communicative Disorders and Stroke criteria for probable Alzheimer's disease. A homogeneous clinical and neuropsychological pattern was evident within the family. Myoclonic jerks, seizures, depression and a lack of insight were common features. Positron emission tomography demonstrated biparietal bitemporal hypometabolism in the one affected individual who was studied. The diagnosis was confirmed histopathologically in one individual.
Adult↗
Correlates of delayed referral for the diagnosis of dementia in an outpatient population.
BACKGROUND: Early diagnosis of dementia is critical, but there is usually a time lag between onset of symptoms and referral for neuropsychological testing and dementia diagnosis. We aimed to identify factors correlated with this delayed referral. METHODS: We studied 140 patients with cognitive deterioration referred to the Memory Clinic of the Catholic University (Rome) between 1995 and 1996. Alzheimer's disease or multi-infarct dementia was diagnosed according to National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA) criteria and Hachinski ischemic score. Global cognitive and neuropsychological functions were assessed with the Mini-Mental State Exam (MMSE) and the Mental Deterioration Battery. The performance on the Activities of Daily Living was used to measure physical function. The time between onset of signs of cognitive deterioration and referral for diagnosis (time to diagnosis: TTD) was estimated through a semistructured interview of the caregiver. Independent correlates of TTD were identified after adjustment for potential confounders and stratifying patients based on level of physical function. RESULTS: Of 127 eligible patients, 63% had Alzheimer's disease, 26% multi-infarct dementia, and 11% had dementia of other types. Mean age was 73.9 +/- 8.2 years, and 59% of patients were females. The mean TTD was 13.8 +/- 10.8 months and did not differ by gender, household composition, or type of dementia. For patients with normal physical function, increased age (beta = .50), female sex (beta = .51), and low MMSE score (beta = .36) were associated with longer TTD. Among patients with physical impairment, only MMSE score showed an association with TTD, but it was of opposite direction (beta = -.31). These associations were consistent by type of dementia. CONCLUSIONS: Age, gender, and degree of cognitive impairment are important correlates of the time between onset of signs/symptoms and referral for dementia diagnosis. These factors are independent of the type of dementia but are influenced by the level of physical function.
Activities of Daily Living↗
Clock drawing is sensitive to executive control: a comparison of six methods.
We examined six clock-drawing task (CDT) scoring systems relative to the Executive Interview (EXIT25, a measure of Executive Control Function [ECF]) and the Mini-Mental State Exam (MMSE). Subjects included n = 33 National Institute of Neurological, Communicative Disorders, and Stroke "probable" Alzheimer's disease (AD) cases and n = 52 independent living controls. AD cases and controls differed on the EXIT25, MMSE, and all CDTs. All CDTs were significantly correlated with the EXIT25 (ranging from r = .56 to r = .78). These associations generally persisted after adjusting for Age, Education, and MMSE scores. In backwards stepwise linear multivariate regression models, only CLOX: An Executive Clock-Drawing Task scores contribute significantly to EXIT25 scores (R2 = .68) and MMSE scores (R2 = .72). Clock drawing draws upon both executive and general cognitive resources. CLOX explains incrementally more variance in ECF than other CDTs.
Age Factors↗
Verbal learning and everyday functioning in dementia: an application of latent variable growth curve modeling.
This study used latent variable growth curve modeling to identify predictors and correlates of verbal learning over trials on a list-learning task in patients with dementia. Data from 116 patients evaluated at the Detroit satellite of the Michigan Alzheimer's Disease Research Center were incorporated in the present analyses. Patients were administered the Fuld Object Memory Evaluation, examined independently by a geriatrician, and, if appropriate, given a diagnosis of probable Alzheimer's disease according to criteria from the National Institute of Neurological and Communicative Disorders and Stroke/Alzheimer's Disease and Related Disorders Association. The presence of dementia significantly predicted both the intercept (i.e., level of performance) and the slope (i.e., learning over trials), with dementia patients demonstrating lower overall levels of performance and less verbal learning over trials. Rate of verbal learning over trials was a significant predictor of everyday functioning (instrumental activities of daily living) above and beyond general cognitive impairment and demographics.
Activities of Daily Living↗
Utilization of self-identity roles for designing interventions for persons with dementia.
To date, little research has systematically explored the retention of self-identity in dementia and its potential use for the individualization of care. The purpose of this study is to determine the impact of role-identity-based treatment for persons with dementia. We recruited a total of 93 elderly persons with dementia (mean Mini-Mental State Exam score = 10.58) for this study. Experimental (treatment) group participants were engaged in activities designed to correspond to each participant's most salient self-identity. The treatment group showed a significant increase in interest, pleasure, and involvement in activities, fewer agitated behaviors during treatment, and increased orientation in the treatment period. The experimental treatment had effects that were superior to those of the nonexperimental activities. The results highlight the powerful roles that perception of self and fulfillment of self-identity play in overall well-being.
Achievement↗
Maternal and gestational factors affecting the risk of cryptorchidism and inguinal hernia.
Case-control studies of cryptorchidism and inguinal hernia were undertaken on white males born within the cohort of the Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke. Significantly elevated risks of cryptorchidism were found for low birthweight, for a high maternal Quetelet's index and for oestrogens administered during gestation (R = 2.8). Similarly, in the case of inguinal hernia, significantly increased risk ratios were observed for low birthweight, for gestational use of progestins (RR = 2.1), and for breech labour (RR = 2.3). Because these malformations and testis cancer share many of the same risk factors, a common mechanism for production of these diseases is proposed which is mediated by testicular hypoplasia induced by excess exogenous or endogenous oestrogen in the mother.
Breech Presentation↗
Nitrosatable drug exposure during pregnancy and adverse pregnancy outcome.
Recent investigations have suggested that drugs that are amines can undergo endogenous or exogenous nitrosation reactions to form N-nitroso compounds. These compounds have been extensively characterized in animal models as carcinogens, mutagens and teratogens. In order to examine the possible effects of exposure to nitrosatable drugs during gestation on pregnancy outcome, data were utilized from the Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke. Pregnancy outcomes for 6061 pregnancies in which the mother ingested a drug known to undergo nitrosation were compared with 6921 randomly sampled pregnancies without such exposure. The major outcome factors of interest were birth defects, fetal, neonatal and infant death and birthweight. Our findings suggest that no significant increases in risk of fetal, neonatal and infant death or low birthweight were associated with nitrosatable drug exposure during pregnancy. However, the risk of a tumour in the offspring of exposed mothers was increased (relative risk, RR = 2.29; 95% Cl 0.99-5.26). Increases in relative risk of major malformations was also observed and this increase was greater when exposure during the first four months of pregnancy was examined separately (RR = 1.33; 1.11-1.58). There were specific individual malformations that were observed to have increased relative risks (for example: eye malformations, hydrocephaly, craniosynostosis and meningomyelocoele/meningocoele) but interpretation was difficult due to multiple comparisons and some of these observations were associated with wide confidence intervals. These types of adverse pregnancy outcomes were consistent with animal study outcomes.
Abnormalities, Drug-Induced↗
Controlling non-insulin-dependent diabetes mellitus in developing countries.
The epidemiological transition has brought an increasing burden of chronic non-communicable disorders to middle- and even low-income countries. This paper reviews the problem with particular reference to non-insulin-dependent diabetes mellitus (NIDDM) in the English-speaking Caribbean region. Surveys conducted over the last three decades have documented a high prevalence of NIDDM in a number of communities and evidence has accumulated to support the control of obesity and physical inactivity in the primary prevention of non-insulin-dependent diabetes. The problem of introducing and monitoring suitable interventions on a long-term basis in high-risk populations in different cultures has yet to be addressed. The impact of diabetes on health status in developing countries has not been well documented but it is clear that there are high levels of acute illness from disorders of glycaemic control, long-term disability from blindness and limb amputation and premature mortality from stroke, coronary heart disease and renal disease. Present evidence suggests that improving the quality of preventive clinical management can be the most immediately productive approach to controlling health problems from diabetes. Achieving this objective within the social, organizational and resource constraints of the Caribbean presents a range of problems. Identifying the most cost-effective means of improving existing services is therefore the most immediate research priority for NIDDM in the English-speaking countries of the Caribbean.
Delivery of Health Care↗
Preconception radiation, intrauterine diagnostic radiation, and childhood neoplasia.
Diagnostic X-ray examinations as a potential risk for neoplasia were investigated in a prospective study of 55,908 women who participated in the Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke. The X-ray exposure histories of 145 mothers whose children developed neoplasms and 290 matched controls were examined. Of the childhood neoplasms, 40 were malignant and 105 were benign. Generally, the data were consistent with increased risk of malignant neoplasms among children of women exposed to X-rays before and during pregnancy, with a somewhat higher relative risk estimate for preconception exposure. No significant association of X-ray exposure and benign neoplasms was detected.
Adult↗
Change in observed birth weight associated with change in maternal cigarette smoking.
Using data collected by the National Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke, the author paired on characteristics of their first study pregnancy 319 white women who reported a change in smoking habits for two successive pregnancies with 319 women who reported no change in smoking behavior. Matching was based upon similar birth weight, interval between births, smoking behavior, sex, and parity of the first of two study births. Divergent smoking behavior for each pair by the time of the second study birth allowed assessment of smoking as a treatment effect. Members of each pair who started smoking prior to the second birth while not smoking for the first, had infants with an average birth weight of 67 g less than infants of their controls who did not start smoking and 36 g less than their previous infant. Among infants whose mothers reported smoking prior to the first study birth, a significant increase in birth weight was observed over infants of controls for women who quit smoking prior to the second study birth (average, 169 g). Taken at face value, this rebound in birth weight is not consistent with an immutable, innate predisposition to lower birth weight among those disposed to smoking.
Adult↗
Social problem solving in schizophrenia.
The recent literature on social skills training has placed an increasing emphasis on the role of cognitive factors in social failure, as opposed to deficits in motoric skills. It has been hypothesized that schizophrenic patients are markedly deficient in social problem-solving abilities, and several programs have been developed to teach problem-solving skills. Despite high face validity, there is little empirical support for these training programs or the problem-solving model on which they are based. Research on information processing and problem solving in nonpatient populations is discussed, and it is concluded that the model used in these treatment programs is not a good representation of the problem-solving process. In particular, means-ends analysis is not an appropriate strategy for dealing with most interpersonal problems and conflicts. The difficulties experienced by schizophrenic patients in social situations might be due to a number of factors other than deficits in problem-solving skill, including sensitivity to negative affect and disordered communication. It is concluded that further research on problem-solving training programs is clearly warranted but that the validity of the problem-solving model and the utility of the training is uncertain.
Humans↗
Social/communication skills, cognition, and vocational functioning in schizophrenia.
Deficits in social/communications skills have been documented in schizophrenia, but it is unclear how these deficits relate to cognitive deficits and to everyday functioning. In the current study, social/communication skills performance was measured in 29 schizophrenia patients with a history of good vocational functioning (GVF) and 26 with a history of poor vocational functioning (PVF) using a role-play-based social skills assessment, the Maryland Assessment of Social Competence (MASC). A battery of standard cognitive tasks was also administered. MASC-indexed social skills were significantly impaired in PVF relative to GVF patients (odds ratio = 3.61, P < .001). Although MASC social skills performance was significantly associated with cognitive performance in domains of verbal ability, processing speed, and memory, the MASC nevertheless remained an independent predictor of vocational functioning even after controlling for cognitive performance. Social/communications skills predict vocational functioning history independently of cognitive performance, and social skills measures should be considered for inclusion in test batteries designed to predict everyday functioning in schizophrenia.
Activities of Daily Living↗