Deletion of 8p: a report of a child with normal intelligence

The case is presented of a female infant with a distal deletion of 8p (8p23.1 --> pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.

Does 'imprinting' with low prenatal vitamin D contribute to the risk of various adult disorders?

Hypovitaminosis D is a candidate risk-modifying factor for a diverse range of disorders apart from rickets and osteoporosis. Based on epidemiology, and on in vitro and animal experiment, vitamin D has been linked to multiple sclerosis, certain cancers (prostate, breast and colorectal), insulin-dependent diabetes mellitus and schizophrenia. I hypothesise that low pre- and perinatal vitamin D levels imprint on the functional characteristics of various tissues throughout the body, leaving the affected individual at increased risk of developing a range of adult-onset disorders. The hypothesis draws from recent advances in our understanding of the early origin of adult disease and proposes a 'critical window' during which vitamin D levels may have a persisting impact on adult health outcomes. Methods to test the hypothesis are outlined. If correct, the hypothesis has important implications for public health. Careful attention to maternal vitamin D status could translate into diverse improvements in health outcomes for the following generation. (C) 2001 Harcourt Publishers Ltd.

Articulatory dysfunction in multiple sclerosis: An electropalatographic study

Dysfunction of the articulatory subsystem (i.c.. the lips, tongue, and jaw) has bccn identified as a major contributor to the reduction in speech intelligibility experienced by a high proportion of people with multiple sclerosis (MS). In particular. consonant imprecision has been reported to be the articulatory deficit that contributes most to variations in overall intelligibility of MS speakers. Electropalatography(EPG) IS an instrurncntal technique that visually documents the location and timing of tongue-topalatc contacts during speech. Although such a technique would be valuablc in objectively assessing the articulatory disturbances exhibited by individuals with dysarthria ia motor speech disorder) associated with MS, to-date no such study ha< been reported. The aim of the present study was to use EPG to assess tongue-to-palate contact patterns and articulatory timing in patients with dysarthria associated with MS. A dysarthric participant with a diagnosis of definite MS was fitted with an acrylic EPG palate (Reading EPG.?) and asked to read aloud a list of single syllable words which contained lingual consonants in the word-initial position and in consonant clusters. Each mord was repeated five times. The EPG palate was specifically moulded to tit the participant's hard palate and contained 62 electrodes that detected the tongue contacts. A non-neurologically impaired participant matched for age and sex servcd as a control. The results of the study revealed that the tongue-to-palate contacts produced by the participant with MS varied from those produced by the control in a number of ways in regard to spatial configurations and timing characteristics exhibited. The rcsults arc discussed in relation to the neuropathophysiological effects of MS on speech production. The potcntial use of EPG in programs for treating speech disorders associated with MS will be highlightcd.

Subcortical brain mechanisms in speech and language

This paper reviews current research and contemporary theories of subcortical participation in the motor control of speech production and language processing. As a necessary precursor to the discussion of the functional roles of the basal ganglia and thalamus, the neuroanatomy of the basal ganglial-thalamocortical circuitry is described. Contemporary models of hypokinetic and hyperkinetic movement disorders based on recent neuroanatomical descriptions of the multi-segmented circuits that characterise basal ganglion anatomy are described. Reported effects of surgically induced lesions in the globus pallidus and thalamus on speech production are reviewed. In addition, contemporary models proposed to explain the possible contribution of various subcortical structures to language processing are described and discussed in the context of evidence gained from observation of the effects of circumscribed surgically induced lesions in the basal ganglia and thalamus on language function. The potential of studies based on examination of the speech/language outcomes of patients undergoing pallidotomy and thalamotomy to further inform the debate relating to the role of subcortical structures in speech motor control and language processing is highlighted. Copyright (C) 2001 S. Karger AG, Basel.

Changes in motor planning of feedforward postural responses of the trunk muscles in low back pain

Changes in trunk muscle recruitment have been identified in people with low-back pain (LBP). These differences may be due to changes in the planning of the motor response or due to delayed transmission of the descending motor command in the nervous system. These two possibilities were investigated by comparison of the effect of task complexity on the feedforward postural response of the trunk muscles associated with rapid arm movement in people with and without LBP. Task complexity was increased by variation of the expectation for a command to either abduct or flex the upper limb. The onsets of electromyographic activity (EMG) of the abdominal and deltoid muscles were measured. In control subjects, while the reaction time of deltoid and the superficial abdominal muscles increased with task complexity, the reaction time of transversus abdominis (TrA) was constant. However, in subjects with LBP, the reaction time of TrA increased along with the other muscles as task complexity was increased. While inhibition of the descending motor command cannot be excluded, it is more likely that the change in recruitment M of TrA represents a more complex change in organisation of the postural response.

Advances in the diagnosis of primary immunodeficiency disorders in childhood

Primary immunodeficiency disorders in childhood usually present as unusual, recurrent or severe infections, symptomatic infections with organisms of low pathogenicity, or as recognizable syndromes which are known to have associated immunological abnormalities. In many of the primary immunodeficiency disorders, there are known patterns of inheritance, and other family members may be affected. Some primary immunodeficiency disorders are relatively common, such as selective IgA deficiency, and often do not lead to major morbidity. Others, such as the severe combined immune deficiency syndromes, are relatively rare, and are fatal in early life if not recognized and treated early. Diagnosis of a primary immunodeficiency disorder depends on appropriate use of laboratory investigations. Often there will be abnormalities detected on a complete blood film and measurement of immunoglobulin isotypes. More complex investigations should be undertaken in conjunction with a paediatric immunology service. In recent years, many of the clinically defined primary immunodeficiency disorders have been shown to have associated specific gene defects. For some, this has led to the identification and characterization of defective or absent gene products. The consequences of this new knowledge are more accurate diagnosis, early diagnosis including antenatal diagnosis, detection of undiagnosed disease in other family members, and the potential for new therapies including gene or gene product therapy.

Brief opportunistic intervention: The role of psychologists in initiating self-change amongst problem drinkers

Excessive consumption of alcohol is a serious public health problem. While intensive treatments are suitable for those who are physically dependent on alcohol, they are not cost-effective options for the vast majority of problem drinkers who are not dependent. There is good evidence that brief interventions are effective in reducing overall alcohol consumption, alcohol-related problems, and health-care utilisation among nondependent problem drinkers. Psychologists are in an ideal position to opportunistically detect people who drink excessively and to offer them brief advice to reduce their drinking. In this paper we outline the process involved in providing brief opportunistic screening and intervention for problem drinkers. We also discuss methods that psychologists can employ if a client is not ready to reduce drinking, or is ambivalent about change. Depending on the client's level of motivation to change, psychologists can engage in either an education-clarification approach, a commitment-enhancement approach, or a skills-training approach. Routine engagement in opportunistic intervention is an important public-health approach to reducing alcohol-related harm in the community.

Gene-Environment Interaction Effects on Behavioral Variation and Risk of Complex Disorders: The Example of Alcoholism and Other Psychiatric Disorders

There have been few replicated examples of genotype x environment interaction effects on behavioral variation or risk of psychiatric disorder. We review some of the factors that have made detection of genotype x environment interaction effects difficult, and show how genotype x shared environment interaction (GxSE) effects are commonly confounded with genetic parameters in data from twin pairs reared together. Historic data on twin pairs reared apart can in principle be used to estimate such GxSE effects, but have rarely been used for this purpose. We illustrate this using previously published data from the Swedish Adoption Twin Study of Aging (SATSA), which suggest that GxSE effects could account for as much as 25% of the total variance in risk of becoming a regular smoker. Since few separated twin pairs will be available for study in the future, we also consider methods for modifying variance components linkage analysis to allow for environmental interactions with linked loci.

A Case Study of Partial Agenesis of the Corpus Callosum: Audiological Implications

This case study presents four and a half years of audiological observations, testing and aural habilitation of a female child with a partial agenesis of the corpus callosum (ACC). The ACC was diagnosed by MRI scan performed at 6 months of age to eliminate neurological causes for the developmental delay. This child was also born with a cleft palate and was diagnosed with Robinow Syndrome at 3 years and 3 months of age. The audiological results showed an improvement in hearing thresholds over the 4-year period. The child’s ophthalmologist also reported an improvement in visual skills over time. The most interesting aspect of the child’s hearing was the discrepancy between the monaural and the binaural results. That is, when assessed binaurally she often presented with a mild to moderate mixed loss and, when assessed monaurally, she showed a moderate to severe mixed loss for the right ear and a severe mixed loss for the left ear. Over time, the discrepancy between the monaural and binaural results changed. When assessed binaurally, the loss decreased to normal low frequency hearing sloping to a mild high frequency loss. When assessed monaurally, the most recent results showed a mild loss for the right ear and a moderate loss for the left ear. This discrepancy between binaural and monaural results was evident for both aided and unaided tests. For the most recent thresholds, the binaural results were consistent with the right monaural thresholds for the first time over the four and a half years. Parental reports of the child’s hearing were consistent with the binaural clinical results. This case indicates the need for audiologists to (1) carefully monitor the hearing of children with ACC, (2) obtain monaural and binaural hearing and aided thresholds results, and (3) compare these children’s functional abilities with the objective test results obtained. This case does question whether hearing aids are appropriate for children with ACC. If hearing aids are deemed to be appropriate, then hearing aids with compression characteristics should be considered.