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Contains fulltext : 51161.pdf (Publisher’s version ) (Open Access) Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patients have provided different conclusions on the nature of the motor disorder. The current study includes the results of a multi-centre international prospective study of the motor disorder in the largest cohort of patients studied to date. A total of 44 patients ranging from 2 to 38 years presented a characteristic motor syndrome that involved severe action dystonia superimposed on baseline hypotonia. Although some patients also displayed other extrapyramidal or pyramidal signs, these were always less prominent than dystonia. These results are compared with a comprehensive review of 122 prior reports that included a total of 254 patients. Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia.

Reports describing the neurological features of Lesch-Nyhan disease (LND) vary widely, thereby implying the involvement of different neurological substrates. The movement abnormalities in 20 patients with LND were investigated. Dystonia was the most frequent and severe movement disorder. At rest, hypotonia was more frequent than hypertonia. These findings are compatible with basal ganglia dysfunction in LND.

The problems adults with disabilities face obtaining quality primary care services are persistent and undermine national efforts to improve the health status of this group. Efforts to address this issue by providing disability-related training to physicians are hampered by limited information about what generalist physicians need to know to care for patients with disabilities. The authors consider the desired outcomes of disability-related training for generalists by exploring the contributions of the domains of knowledge, attitudes, and skills to patient-directed behavior and summarizing the empirical data.Because disability reflects a complex interplay among individual, interpersonal, institutional, community, and societal factors, generalist physicians can promote and protect the health of adults with disabilities by interventions at multiple levels. Thus, the authors use the social-ecological framework, an approach to health promotion that recognizes the complex relationships between individuals and their environments, to delineate the recommended knowledge, attitudes, and skills in the context of primary care. The importance of role models who demonstrate the three domains, the interactions among them, and issues in evaluation are also discussed. This clear delineation of the recommended educational outcomes of disability-related training in terms of knowledge, attitudes, and skills will support efforts to better prepare generalist physicians-in training and in practice-to care for adults with disabilities and to evaluate these training strategies.

Cultural competence extends beyond understanding those values, beliefs, and needs that are associated with patients' age or gender or with their racial, ethnic, or religious backgrounds. People hold many simultaneous cultural associations, and each have implications for the care process. The "culture of disability" is a pan-ethnic culture for which a set of physician competencies are required to ensure appropriate, culturally sensitive care to persons with congenital or acquired disabilities. Such competencies include communicating with patients who have deficits in verbal communication and avoidance of infantilizing speech; understanding the values and needs of persons with disabilities; the ability to encourage self-advocacy skills of patients and families; acknowledging the core values of disability culture including the emphasis on interdependence rather than independence; and feeling comfortable with patients with complex disabilities. Medical schools have developed programs to increase students' exposure to persons with disabilities and it is suggested that such programs are most effective when they are the result of collaboration with community-based facilities or organizations that serve persons with disabilities in the natural environment. Combining lecture-based instruction and structured experiences with the opportunity for students to interact with patients in their natural environments may facilitate development of competencies with respect to patients with disabilities. The culture of disability should be included as one of the many cultures addressed in cultural competence initiatives in medical school and residency curricula.

Reports describing the neurological features of Lesch‐Nyhan disease (LND) vary widely, thereby implying the involvement of different neurological substrates. The movement abnormalities in 20 patients with LND were investigated. Dystonia was the most frequent and severe movement disorder. At rest, hypotonia was more frequent than hypertonia. These findings are compatible with basal ganglia dysfunction in LND.

Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a survey of 64 families in the USA and abroad regarding the self-injury of their family members who have LND. The individuals with LND ranged in age from 1 to 40 years (mean 16 years 7 months, SD 11 years 2 months) and, with the exception of one, were males. The most common initial mode of self-mutilation, and the most frequently cited past or current behavior, was biting of lips and/or fingers. Other behaviors, in order of frequency, included head banging, extension of arms when being wheeled through doorways, tipping of wheelchairs, eye-poking, fingers in wheelchair spokes, and rubbing behaviors. Hierarchical cluster analysis identified patterns of association among the types of self-mutilation. Modes of self-mutilation in which external surfaces (such as a wheelchair component) served as instruments of self-injury tended to co-occur, as did biting of lips and fingers.

Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fixation was interrupted by frequent unwanted saccades toward minor visual distractions. Voluntary saccades were associated with an initial head movement and/or eyeblink in all of these patients. When head motion was prevented, voluntary saccades were often delayed and sometimes absent. In contrast, saccade speed, reflexive saccades, and other reflexive eye movements appeared clinically normal. Four patients with severe enzyme deficiency also experienced mild blepharospasm, and two had ocular tics. These disturbances of ocular motility are consistent with dysfunction of the basal ganglia or its connections with ocular motor centers in the prefrontal cortex or midbrain.