Difference and choice: exploring prenatal testing and the use of genetic information with people with learning difficulties

Developments in genetics have huge implications for disabled people (including people with learning difficulties) and their families. On the positive side, there is the potential for greater understanding of – and ultimately, perhaps, treatments for – serious conditions like cystic fibrosis and sickle cell anaemia, but there are also concerns about the negative implications, including the potential for discrimination in insurance, employment and even life itself. Yet, the voices of those most affected by these developments – people with learning difficulties and their families, and disabled people generally – have been conspicuously absent from these debates. The present article describes two workshops that explained the use of prenatal testing and genetic information to inform choices in pregnancy to people with learning difficulties, and then explored the issues with them and the contribution subsequently made by these people to a national conference on this subject. Methods for explaining the complex issues involved in an accessible way and exploring them in a supportive environment are described along with the views of people with learning difficulties on these issues.     

Erwin Gustav Niessl von Mayendorf and his impact on the conceptional history of aphasia

Throughout his life Erwin Gustav Niessl von Mayendorf (1873 -?1943) dealt with aphasia, yet so far his studies have been neglected in the historiography of the illness. Niessl followed a unique approach which stood in contrast to both theories that dominated discussion in the first half of the 20th century -?locationalism and antilocationalism. This may help explain why he fell prey to oblivion. Yet in fact it is worthwhile remembering his studies, in particular since they might enrich present-day discussions. Although supporting the notion that centres where signals and stimuli are perceived could be located in the brain, he strongly rejected the localisation of cognitive processes. For him these were the result of association. Furthermore Niessl stressed the role of the non-dominant and hence untrained right hemisphere for aphasic symptoms standing in to replace the injured or destroyed left one -?a fact that now may be found from recently published fMRI trials.     

Marc Dax and the discovery of the lateralisation of language in the left cerebral hemisphere

In 1836, Marc Dax presented a revolutionary conclusion based on both his clinical observations and reports from the literature: the localisation of language in the left hemisphere. Twenty-seven years later, his son, Gustave Dax, extended and enriched his work. Their involvement in 19th century neuropsychology is impressive and recognition should have been considerable. However, according to the vast majority of historians of neurology, neuropsychology and aphasiology, the priority in establishing the dominance of the left brain hemisphere for speech goes to Paul Broca in an undivided way. Is it possible that Marc Dax's and his son, Gustave Dax's works were entirely unknown? Were they known and utterly forgotten? Were they ignored? How did we get to know that they existed? The aim of the present paper is to try to answer those and other questions and to demonstrate that there is abundance of data pointing out that the priority of the discovery of left hemisphere dominance for speech ought to be, at least, shared by Dax and Broca.     

Visual hallucinations as the presenting symptom of dementia — A variant of the charles bonnet syndrome?

The presentation of functional symptoms with related behaviour disturbance in elderly patients may deflect the attention of clinicians from an underlying cognitive impairment. The objectives of the case presentation below are to demonstrate the relatively independent course of different symptoms within the natural history of a dementing disorder, and to look also at how they might have arisen: is there a single organic aetiology, or a more complex interplay between perceptual disturbance and the release of past experience? The intention is to discuss diagnostic issues and also to address the most appropriate investigation and management.     

Coexistence of posttraumatic stress disorder and traumatic brain injury: towards a resolution of the paradox.

The coexistence of posttraumatic stress disorder (PTSD) and traumatic head or brain injury (TBI) in the same individual has been proposed to be paradoxical. It has been argued that individuals who sustain a TBI and have no conscious memory of their trauma will not experience fear, helplessness and horror during the trauma, nor will they develop reexperiencing symptoms or establish the negative associations that underlie avoidance symptoms. However, single case reports and incidence studies suggest that PTSD can be diagnosed following TBI. We highlight critical issues in assessment, definitions, and research methods, and propose two possible resolutions of the paradox. One resolution focuses on ambiguity in the criteria for diagnosing PTSD. The other involves accepting that TBI patients do experience similar symptoms to other PTSD patients, but that there are crucial differences in symptom content.     

À propos de la folie à l’opéra

The author evokes the importance of the themes of insanity in opera works, since the l6th century up to the present time. Among those problems: what about the “lyrical delight” provoked by such madness scenes? What is the importance of those operatic arias, in particular since the romantic era? Is there a peculiar, specific, function of the women’s voices in relation to such symptoms?     

Cognitive symptoms,cervical range of motion and pain as prognostic factors after whiplash trauma

Borenstein P, Rosenfeld M, Gunnarsson R. Cognitive symptoms, cervical range of motion and pain as prognostic factors after whiplash trauma.
Acta Neurol Scand: 2010: 122: 278–285.
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objectives – To evaluate pain, cervical range of motion (CROM) and cognitive symptoms as predictors for poor prognosis defined as sick leave 3 years later. Material and methods – In 97 patients CROM, pain intensity and cognitive symptoms were measured immediately following trauma, at 6 months and 3 years. Patients were also asked at 3 years if they had been on sick leave the last 6 months. Results – Pain intensity and reduced CROM were not clinically useful as predictors of later sick leave. The best predictors were presence within 96 h after injury of the two cognitive symptoms ‘being easily distracted’ (odds ratio 8.7–50) and ‘easily irritated’ (odds ratio 5.3–31). Conclusions – Initial pain and reduced CROM may be related to minor tissue damage which often heals while late functionality is more dependent on other factors such as cognitive dysfunction. For patients with whiplash‐associated disorders two simple questions should be asked; ‘Are you currently easily irritated?’ and ‘Are you currently easily distracted (e.g. is it difficult for you to follow a conversation if several people are talking in the room at the same time)?’. An affirmative answer to any of these questions indicates an increased risk for poor prognosis defined as sick leave 3 years later.     

Ubi irritatio, ibi affluxus: a 19th century perspective on haemodynamic brain activity

The impact of cognitive operations on haemodynamic activity in the human brain is a cornerstone of modern cognitive neuroscience. This essay presents an early speculation about why there is increased blood flow following cognitive operations: Emil Harleß, a 19th century German physiologist, proposed that this blood flow responds to irritations caused by “the will” in order to restore homeostasis. Peculiar from a modern perspective, this speculation shows how neuroscientific concepts – and corresponding perspectives on cognitive function – have changed over the centuries.     

The clinical concept of epilepsy

This article reviews the history of clinical concepts of epilepsy and its classification, especially in the last 100 years. Throughout its recorded history of 3 to 4 millennia, epilepsy has always been defined by its most dramatic symptoms, for example, falling, motor activity or loss of consciousness, but separation from other causes of the same paroxysmal symptoms has always proved challenging. For over a century there has been some semantic confusion whether to call the various paroxysms fits, convulsions, seizures, or epilepsies. Since the middle of the 19th century a great unresolved debate has continued about whether recurrent seizures or epilepsy should be viewed as a separable symptom of underlying brain disease or as one or more idiopathic diseases or syndromes, with an inherent age-related natural history; or indeed viewed as both a symptom and a disease. A major advance in the 20th century is that vascular theories of epilepsy, which reached their peak with Turner in 1907, have been replaced by electromagnetic discharges, based especially on the work of Todd, Jackson, Berger, Lennox, and the Gibbs, culminating eventually in new ILAE classifications of seizures (1981) and epilepsy syndromes (1989). However 21st century uncertainties about symptomatic versus idiopathic or cross-sectional (seizures) versus longitudinal (epilepsy) approaches to the problem very much reflect similar divergences of view a century ago. More attention is now being directed at interseizure events and processes which may lead either to remission or intractability with associated cognitive and psychosocial consequences. The search for the elusive essence, diathesis or predisposition to epilepsy, including seizure threshold, continues.     

Parents with mental handicaps and adequate child care — a review

Although there has been much concern about people with mental handicaps as parents, available evidence shows that: they do not necessarily have children who are mentally handicapped; they have fewer or the same number of children as the norm; while some provide inadequate child care, others provide adequate care; and they can develop parenting skills. Despite these tentative conclusions, there is a critical need for additional research that systematically addresses parenting issues with this group of people and seeks to answer the following questions. What are the predictors of adequate parenting? What types and frequency of training are useful? How do other factors such as emotional disturbance, stress, and health-related problems influence acquisition and maintenance of parenting skills?     

Symptom expectation after minor head injury. A comparative study between Canada and Lithuania

OBJECTIVES: The purpose of the present study is to compare the frequency and nature of expected symptoms in Lithuania (a country where the chronic post-concussive syndrome is largely unknown) with that in Canada. METHODS: A symptom checklist was administered to two subject groups selected from local companies in Kaunas, Lithuania, and Edmonton, Canada, respectively. Subjects were asked to imagine having suffered head trauma with loss of consciousness in a motor vehicle accident, and to check off symptoms they expected might arise from the injury. For symptoms they anticipated, they were asked to select the period of time they expected those symptoms to persist. RESULTS: In both the Lithuanian and Edmontonian groups, the pattern of symptoms anticipated closely resembled the acute symptoms commonly reported by accident victims with minor head injury. Yet, while many Edmontonians also anticipated symptoms to last months or years, very few Lithuanian subjects selected any symptoms as being likely to persist in a chronic manner. CONCLUSIONS: In Lithuania, despite the frequent experience of minor head injury in motor vehicle accidents, there is a very low rate of expectation of any chronic sequelae from such an injury, contrasting greatly with the response shown in Canada, where the prevalence of the chronic post-concussive syndrome is higher. Symptom expectation in some countries may be an important factor in the development of the chronic post-concussive syndrome.     

Recommendations for the revision of DSM-IV diagnostic categories for co-morbid posttraumatic stress disorder and traumatic brain injury

The definitions in the Diagnostic and Statistical Manual-4th Ed.-TR [5] relating to posttraumatic stress disorder (PTSD) and traumatic brain injury (TBI) after mechanical accidents do not reflect the range of dysfunctions, the significance of patient differences, and fluctuating intensity, direction, and symptoms with increasing time since an injury. The considerable overlapping of symptoms is not considered at all, nor is concussion given a diagnosis. Some anatomical and physiological considerations for these frequently comorbid conditions are specified to increase diagnostic precision, or call attention to unavoidable ambiguities. The current definitions lead to diagnostic error since there are many that are based upon symptoms that are not trauma related although they resemble those of TBI. A Taxonomy of Neurobehavioral Disorders draws attention to a wide range of physiological and behavioral functions, with implications for more accurate recognition of symptoms, diagnosis, and treatment. Persistent posttraumatic disorders, more complex than PTSD, exist, due to the effects of unhealed tissues, impairment, and the social consequences of impairment and rejection. There are recommendations for the improvement of the definitions of PTSD and traumatic brain injury when both may be co-morbid after a mechanical injury.     

Persistent Post-Concussive Syndrome: A Proposed Methodology and Literature Review to Determine the Effects,if Any,of Mild Head and Other Bodily Injury

Following mild head injury, a subgroup of individuals exhibit a constellation of chronic symptoms, a condition Alexander (1995) labeled Persistent Post-Concussive Syndrome (PPCS). He implicated neurological factors in the initial phase of the syndrome but psychological factors in the maintenance of symptoms. However, it is unclear as to whether an initial mild head injury is necessary or sufficient to cause the symptoms of PPCS. We first outline a study design comparing a mild closed-head injury group to both a normal and an other injury control group to answer this question. Next, we review the literature since 1960 to determine the findings of any studies using this design. The results of the literature review indicate that few such studies exist. To date, those that have been done suggest that there is no strong evidence for a specific effect for mild head injury on cognitive functioning. We discuss directions for future research given these findings.     

Persistent Post-Concussive Syndrome: A proposed methodology and literature review to determine the effects, if any, of mild head and other bodily injury

Following mild head injury, a subgroup of individuals exhibit a constellation of chronic symptoms, a condition Alexander (1995) labeled Persistent Post-Concussive Syndrome (PPCS). He implicated neurological factors in the initial phase of the syndrome but psychological factors in the maintenance of symptoms. However, it is unclear as to whether an initial mild head injury is necessary or sufficient to cause the symptoms of PPCS. We first outline a study design comparing a mild closed-head injury group to both a normal and an other injury control group to answer this question. Next, we review the literature since 1960 to determine the findings of any studies using this design. The results of the literature review indicate that few such studies exist. To date, those that have been done suggest that there is no strong evidence for a specific effect for mild head injury on cognitive functioning. We discuss directions for future research given these findings.     

Fine motor skills in South African children with symptoms of ADHD: influence of subtype, gender, age, and hand dominance

Background

Motor problems, often characterised as clumsiness or poor motor coordination, have been associated with ADHD in addition to the main symptom groups of inattention, impulsiveness, and overactivity. The problems addressed in this study were: (1) Are motor problems associated with ADHD symptoms, also in African cultures? (2) Are there differences in motor skills among the subtypes with ADHD symptoms? (3) Are there gender differences? (4) Is there an effect of age? (5) Are there differences in performance between the dominant and non-dominant hand?

Method

A total of 528 children (264 classified as having symptoms of ADHD and 264 matched comparisons) of both genders and from seven different South African ethnic groups participated in the study. They were assessed with three simple, easy to administer instruments which measure various functions of motor speed and eye-hand coordination: The Grooved Pegboard, the Maze Coordination Task, and the Finger Tapping Test. The results were analysed as a function of subtype, gender, age, and hand dominance.

Results

The findings indicate that children with symptoms of ADHD performed significantly poorer on the Grooved Pegboard and Motor Coordination Task, but not on the Finger Tapping Test than their comparisons without ADHD symptoms. The impairment was most severe for the subtype with symptoms of ADHD-C (combined) and less severe for the subtypes with symptoms of ADHD-PI (predominantly inattentive) and ADHD-HI (predominantly hyperactive/impulsive). With few exceptions, both genders were equally affected while there were only slight differences in performance between the dominant and non-dominant hand. The deficiencies in motor control were mainly confined to the younger age group (6 – 9 yr).

Conclusion

An association between the symptoms of ADHD and motor problems was demonstrated in terms of accuracy and speed in fairly complex tasks, but not in simple motor tests of speed. This deficiency is found mainly in the children with ADHD-C symptoms, but also to a lesser degree in the children with symptoms of ADHD-PI and ADHD-HI.     

Parkinsonism and neurological manifestations of influenza throughout the 20th and 21st centuries

PurposeGiven the recent paper by Jang et al. on “A Highly Pathogenic H5N1 Influenza Virus” which reported a novel animal model of parkinsonism, we aimed to perform a complete historical review of the 20th and 21st century literature on parkinsonism and neurological manifestations of influenza.ScopeThere were at least twelve major flu pandemics reported in the literature in the 20th and 21st century. Neurological manifestations most prevalent during the pandemics included delirium, encephalitis, ocular abnormalities, amyotrophy, myelopathy, radiculopathy, ataxia and seizures. Very little parkinsonism was reported with the exception of the 1917 cases originally described by von Economo.ConclusionsTo date there have been surprisingly few cases of neurological issues inclusive of parkinsonism associated with influenza pandemics. Given the recent animal model of H5N1 influenza associated parkinsonism, the medical establishment should be prepared to evaluate for the re-emergence of parkinsonism during future outbreaks.     

Perception of illness: nonspecificity of postconcussion syndrome symptom expectation.

A growing number of studies show postconcussion syndrome (PCS) symptom report is influenced by factors other than head injury, suggesting symptoms typically associated with PCS may not be specific to head injury. Given the role that symptom expectation has been hypothesized to play in PCS symptom etiology, a comparison of symptoms expected for various disorders seems overdue. The present study asked 82 undergraduates to report the symptoms they currently experience, and then to report the symptoms they would expect to experience if they had had suffered either a head injury, an orthopedic injury, posttraumatic stress, or depression. No current differences in overall symptoms or in symptom subscales emerged. Results showed individuals portraying head injury, posttraumatic stress, and depression expected an increase in total symptoms, though individuals portraying an orthopedic injury did not expect such an increase. Results also showed simulators of head injury, posttraumatic stress, and depression expected equivalent rates of overall symptoms, memory/cognitive complaints, somatic concerns, and distracter symptoms, though head-injured individuals reported fewer affective symptoms than those portraying psychological disorders. In all, these findings suggest that individuals have a relative lack of specificity in symptom expectation for various disorders, with the implication that symptom checklists for "PCS" may not be useful for diagnosis.     

Multiple sclerosis in western Finland: evidence for a founder effect

We have previously demonstrated that there is a high-risk focus for multiple sclerosis (MS) in the southern Ostrobothnian region of western Finland (population 376121 in 1993). Of the two southern Ostrobothnian health-care districts, Vaasa and Sein?joki, the incidence and prevalence of MS were especially high in the latter. In recent genetic studies, we identified haplotypes of the myelin basic protein (MBP) gene in a group of MS patients originating from southern Ostrobothnia, suggesting a founder effect. This finding led us to explore the population history of the southern Ostrobothnia and correlate it with MS epidemiology. Southern Ostrobothnia can be divided into three distinct regions with respect to its historical settlement: Vaasa, Sein?joki-south, and Sein?joki-north. Vaasa, the coastal region was settled by Swedes, who immigrated during the 13th century. In Vaasa, the prevalence of clinically definite MS (CDMS) in 1993 was 107/10(5) (95% CI 90-124). Sein?joki-south was populated from the 13th century onwards from southwestern Finland, a region which has been recognised as a high-risk focus of MS. In Sein?joki-south, the prevalence of CDMS in 1993 was 219/10(5) (95% CI 190-247). Sein?joki-north was inhabited rather late starting in the 16th century from eastern Finland. In Sein?joki-north the prevalence of CDMS in 1993 was 136/10(5) (95% CI 108-164). The historical settlement pattern of the southern Ostrobothnia indicates that its population is quite heterogeneous. Sein?joki-south has a very high prevalence of MS, significantly higher than its two neighbouring regions. The distinctive settlement history of Sein?joki-south, the historical link with the other southwestern high-risk foci and molecular genetic evidence, suggest that a founder effect plays an important role in the high-risk of MS in western Finland.     

A cluster of multiple sclerosis cases in Lysvik in the Swedish county of Värmland

Objectives – When surveying the county of Värmland in Sweden in order to determine the prevalence of multiple sclerosis (MS), we observed an aggregation of MS cases originating from the parish of Lysvik in the local region called Fryksdalen. Our intention was to analyse this cluster thoroughly, confirming the MS diagnosis and seeing if a hereditary or environmental background was plausible. Methods – The medical files were studied and the cases were classified by a neurologist according to Poser's criteria. Hereditary factors were analysed. Results – Sixteen living cases of MS were found, either living in the parish (n = 6) or born or raised there and had later moved to another place (n = 10). All patients had clinically definite MS. Eleven patients had relatives with MS, all of these being descendants of the Suhoinen family. Another two cases were Suhoinen descendants who did not have relatives with MS. Other common ancestors were also identified. Two cases were adopted. Eleven deceased MS patients from Lysvik were found, 10 of them had Suhoinen ancestry. Conclusion – We report a cluster of MS cases with a common ancestry indicating heredity for MS in 85% of the cases. Lysvik is a parish where Finnish immigration was pronounced in the 17th century and there has been inbreeding to a certain extent through marriage between cousins. Thus, we interpret this aggregation as possibly being genetically based, and neurogenetic studies are now being performed. However, as two of the cases were adopted environmental factors must also be considered.     

Sleep symptoms and their clinical correlates in Machado-Joseph disease

Objective – To evaluate the presence of sleep symptoms in Machado–Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3). Subjects/methods – We used a sleep questionnaire and the Epworth Sleepiness Scale to compare 53 patients with MJD/SCA3 and 106 controls. Results – Patients with MJD/SCA3 reported more symptoms of insomnia, restless leg syndrome and REM sleep behavior disorder as well as nocturnal cramps, snoring and nocturnal apnea. Insomnia was the most frequently reported sleep‐related complaint in the MJD/SCA3 group. Conclusions – Our results indicate that sleep disorders are common in patients with MJD/SCA3 and probably have a multifactorial etiology, with components of a primary sleep disorder in addition to sleep‐disrupting symptoms such as nocturia and cramps.