A lesão medular espinhal está entre as lesões mais graves que uma pessoa pode ter como experiência. Os efeitos pessoais e sociais são profundamente significantes, pois conferem uma incapacidade permanente sobre as pessoas acometidas. Quando acontece uma agressão à medula espinhal, ocorre um déficit na inervação abaixo da lesão, por perda do controle supraespinhal. Muitas são as conseqüências advindas das mudanças ocorridas na mecânica respiratória, conseqüente da lesão medular acima do sexto segmento torácico, como a superficialidade da respiração, ineficiência da tosse e do espirro, alterações do clearence mucociliar e aumento da complacência abdominal. Tais fatores promovem alterações nos volumes, capacidades e pressões respiratórias, dificultando aos indivíduos tetraplégicos e paraplégicos, com lesão torácica alta, serem colocados em pé, com auxílio de dispositivos, como a mesa ortostática. Com o intuito de verificar o efeito do uso da cinta abdominal elástica na função respiratória, em indivíduos lesados medulares, na posição ortostática em angulações de 60° e 60°/90°, foram mensurados, a capacidade vital, volume corrente, pressão inspiratória e expiratória máxima e saturação de oxigênio. Participaram 56 indivíduos, com predomínio do gênero masculino, apresentando média de idade de 35,4 anos e maior freqüência motora de lesão em T4. Estes foram divididos em quatro grupos distintos em relação ao uso ou não da cinta e angulações da mesa ortostática. Os resultados encontrados para os parâmetros avaliados, não demonstraram significância estatística em relação ao uso ou não da cinta abdominal elástica entre os grupos. No entanto, as médias dos grupos com o uso da cinta, apresentaram-se mais altas em todas as avaliações. Podemos considerar que a cinta não interferiu na melhora significativa dos parâmetros respiratórios. Porém, muitos indivíduos referem utilizá-la como um suporte abdominal, proporcionando estabilização na postura do tronco quando em pé. Estudos com ensaios clínicos aleatórios devem ser propostos para mensurar o efeito que a cinta abdominal elástica proporciona aos indivíduos lesados medulares que a utilizam freqüentemente durante o posicionamento ortostático. / Spinal cord injury is one of the most severe injuries that someone can experience. The personal and social impacts are deeply significant as they cause a permanent disability to the injured person. When the spinal cord injury takes place it results in anervous deficit below the injury site by loss of upper spinal control. There are many consequences of the changes to the respiratory biomechanics, due to the injury above the sixth thoracic segment, such as the superficial respiratory capacity, cough and sneeze inefficiency, mucociliary clearance changes and abdominal complacence increase. These complications cause volume, capacity and pressure disturbances that make it difficult to put tetraplegic and paraplegic individuals with high thoracic injury into a standing up position, even with the assistance of devices like the orthostatic table. The vital capacity, the tidal volume, the maximum inspiratory and expiratory pressures and the oxygen saturation were measured to ascertain the effect of the elastic abdominal binder to the respiratory function of individuals with spinal cord injury at the orthostatic position on 60º and 60º/90º angulations. 56 individuals were chosen, mostly men, at the average age of 35.4 and higher motor frequency injury at the T4. They were divided into four different groups according to the binder use and the orthostatic table angulation’s. Results did not show statistic significance to using or not using the binder between the groups. However, the averages of the groups that used the binder were the highest in all the measurements. It can be said that the binder did not interfere to the significant improvement of the respiratory patterns. In spite of that, many people say they prefer to use the binder as an abdominal support that provides stability to the body when they are standing up. Randomized clinic studies should be done to measure the elastic abdominal binder effects provided to the individuals with spinal cord injuries that often use it into the orthostatic position.

A lesão medular espinhal está entre as lesões mais graves que uma pessoa pode ter como experiência. Os efeitos pessoais e sociais são profundamente significantes, pois conferem uma incapacidade permanente sobre as pessoas acometidas. Quando acontece uma agressão à medula espinhal, ocorre um déficit na inervação abaixo da lesão, por perda do controle supraespinhal. Muitas são as conseqüências advindas das mudanças ocorridas na mecânica respiratória, conseqüente da lesão medular acima do sexto segmento torácico, como a superficialidade da respiração, ineficiência da tosse e do espirro, alterações do clearence mucociliar e aumento da complacência abdominal. Tais fatores promovem alterações nos volumes, capacidades e pressões respiratórias, dificultando aos indivíduos tetraplégicos e paraplégicos, com lesão torácica alta, serem colocados em pé, com auxílio de dispositivos, como a mesa ortostática. Com o intuito de verificar o efeito do uso da cinta abdominal elástica na função respiratória, em indivíduos lesados medulares, na posição ortostática em angulações de 60° e 60°/90°, foram mensurados, a capacidade vital, volume corrente, pressão inspiratória e expiratória máxima e saturação de oxigênio. Participaram 56 indivíduos, com predomínio do gênero masculino, apresentando média de idade de 35,4 anos e maior freqüência motora de lesão em T4. Estes foram divididos em quatro grupos distintos em relação ao uso ou não da cinta e angulações da mesa ortostática. Os resultados encontrados para os parâmetros avaliados, não demonstraram significância estatística em relação ao uso ou não da cinta abdominal elástica entre os grupos. No entanto, as médias dos grupos com o uso da cinta, apresentaram-se mais altas em todas as avaliações. Podemos considerar que a cinta não interferiu na melhora significativa dos parâmetros respiratórios. Porém, muitos indivíduos referem utilizá-la como um suporte abdominal, proporcionando estabilização na postura do tronco quando em pé. Estudos com ensaios clínicos aleatórios devem ser propostos para mensurar o efeito que a cinta abdominal elástica proporciona aos indivíduos lesados medulares que a utilizam freqüentemente durante o posicionamento ortostático. / Spinal cord injury is one of the most severe injuries that someone can experience. The personal and social impacts are deeply significant as they cause a permanent disability to the injured person. When the spinal cord injury takes place it results in anervous deficit below the injury site by loss of upper spinal control. There are many consequences of the changes to the respiratory biomechanics, due to the injury above the sixth thoracic segment, such as the superficial respiratory capacity, cough and sneeze inefficiency, mucociliary clearance changes and abdominal complacence increase. These complications cause volume, capacity and pressure disturbances that make it difficult to put tetraplegic and paraplegic individuals with high thoracic injury into a standing up position, even with the assistance of devices like the orthostatic table. The vital capacity, the tidal volume, the maximum inspiratory and expiratory pressures and the oxygen saturation were measured to ascertain the effect of the elastic abdominal binder to the respiratory function of individuals with spinal cord injury at the orthostatic position on 60º and 60º/90º angulations. 56 individuals were chosen, mostly men, at the average age of 35.4 and higher motor frequency injury at the T4. They were divided into four different groups according to the binder use and the orthostatic table angulation’s. Results did not show statistic significance to using or not using the binder between the groups. However, the averages of the groups that used the binder were the highest in all the measurements. It can be said that the binder did not interfere to the significant improvement of the respiratory patterns. In spite of that, many people say they prefer to use the binder as an abdominal support that provides stability to the body when they are standing up. Randomized clinic studies should be done to measure the elastic abdominal binder effects provided to the individuals with spinal cord injuries that often use it into the orthostatic position.

O sujeito acometido pelo Trauma Raquimedular (TRM) seguido de lesão medular (LM) perde a sensibilidade e a motricidade de parte ou de quase todo o corpo, além do funcionamento do organismo ficar desregulado. Podem ser caracterizados em cinco grupos: Tetraplegia ou paraplegia, completas e incompletas, ou normal. Este trabalho foi uma proposta de revisitar, sob a luz das teorias freudo-lacanianas, o conteúdo dos atendimentos psicanalíticos a sujeitos com este acometimento, realizados no Hospital das Clínicas SP. A partir de relatos elaborados, recuperando evoluções e anotações dos Prontuários do Paciente e Protocolos do Serviço de Psicologia, de atendimentos a dez pacientes, foi possível não só re-investigar psicanaliticamente o material escutado das livres associações, como também construir mais sistematicamente o caminho traçado pelo atendimento psicanalítico nas especificidades da clínica de Lesão Medular. Para tanto, o alicerce de suporte foi o constructo silêncio, explorado teoricamente junto ao seu alcance na prática clínica, que em sua singularidade marcou este encontro analítico entre os pacientes com tetraplegia e o psicanalista em contexto hospitalar / The subject affected by Rachimedullary Trauma (RMT) followed by Spinal Cord Injury (SCI) loses the sensibility and the motor of part or of its entire body, and also suffers from the deregulation of its body`s functioning. These traumas can be characterized into five groups: Tetraplegia and paraplegia, complete and incomplete, or normal. This work is a proposal to revisit, under the freud-lacanian theories, the content of psychoanalytic care to subjects with this condition, performed at Hospital das Clínicas São Paulo. elaborate reports from recovered annotations of the Medical Records of Patients and Protocols of the Psychology Department, from the psychoanalytic care of ten subjects, it was not only possible to psychoanalytically re-investigate the heard material from the free associations, but also to build more systematically the route delineated by psychoanalytic care on the specificities of the clinical Spinal Cord Injury. For this purpose, the foundation supporting was the construct of silence, theoretically explored along its range in clinical practice, that in its singularity marked this analytic encounter between patients with tetraplegia and the psychoanalyst in a hospital context

O sujeito acometido pelo Trauma Raquimedular (TRM) seguido de lesão medular (LM) perde a sensibilidade e a motricidade de parte ou de quase todo o corpo, além do funcionamento do organismo ficar desregulado. Podem ser caracterizados em cinco grupos: Tetraplegia ou paraplegia, completas e incompletas, ou normal. Este trabalho foi uma proposta de revisitar, sob a luz das teorias freudo-lacanianas, o conteúdo dos atendimentos psicanalíticos a sujeitos com este acometimento, realizados no Hospital das Clínicas SP. A partir de relatos elaborados, recuperando evoluções e anotações dos Prontuários do Paciente e Protocolos do Serviço de Psicologia, de atendimentos a dez pacientes, foi possível não só re-investigar psicanaliticamente o material escutado das livres associações, como também construir mais sistematicamente o caminho traçado pelo atendimento psicanalítico nas especificidades da clínica de Lesão Medular. Para tanto, o alicerce de suporte foi o constructo silêncio, explorado teoricamente junto ao seu alcance na prática clínica, que em sua singularidade marcou este encontro analítico entre os pacientes com tetraplegia e o psicanalista em contexto hospitalar / The subject affected by Rachimedullary Trauma (RMT) followed by Spinal Cord Injury (SCI) loses the sensibility and the motor of part or of its entire body, and also suffers from the deregulation of its body`s functioning. These traumas can be characterized into five groups: Tetraplegia and paraplegia, complete and incomplete, or normal. This work is a proposal to revisit, under the freud-lacanian theories, the content of psychoanalytic care to subjects with this condition, performed at Hospital das Clínicas São Paulo. elaborate reports from recovered annotations of the Medical Records of Patients and Protocols of the Psychology Department, from the psychoanalytic care of ten subjects, it was not only possible to psychoanalytically re-investigate the heard material from the free associations, but also to build more systematically the route delineated by psychoanalytic care on the specificities of the clinical Spinal Cord Injury. For this purpose, the foundation supporting was the construct of silence, theoretically explored along its range in clinical practice, that in its singularity marked this analytic encounter between patients with tetraplegia and the psychoanalyst in a hospital context

Spinal Cord Injuries (SCIs) are debilitating injuries where damage to the spinal cord causes a loss of mobility and feeling in muscles innervated below the injury point. Tetraplegia refers to an SCI in the cervical region of the spinal cord that impacts on the functionality of all four limbs. ‘Complete’ tetraplegia results in complete paralysis of the legs, partial or complete paralysis of the arms and trunk, and in the most severe cases, the neck. The independence of people living with tetraplegia is heavily dependent on assistive and mobility devices. Understanding the strength characteristics of people with tetraplegia is crucially important for the suitable and effective design of mobility and rehabilitative devices such as wheelchairs. A study using a stationary dynamometer and video capture measured kinetic and kinematic characteristics of wheelchair propulsion for 15 subjects with C5-C7 tetraplegia. This study differentiated between subjects with different injuries, at two different test resistances, and was more comprehensive than other reported studies on MWC propulsion. Some of the subjects in the study with C5-C6 injuries had no elbow extension capability, while others had undergone a deltoids-to-triceps tendon transfer procedure called TROIDS, which restores some elbow extension capability. No differences were found in any of the push phase metrics between those who had undergone the TROIDs procedure, and those who had not, suggesting that TROIDs provides no significant benefit for mobility. As expected, subjects with C7 tetraplegia recorded velocity and power outputs significantly higher than those for subjects with C5-C6 tetraplegia. To better understand the strength characteristics over the full range of motion in the sagittal plane, and thus potentially modify the design of mobility devices to better suit these characteristics, a novel method for gathering strength data in multiple directions and positions was developed. This method had advantages over other commonly used methods. In particular, it was inclusive of complex muscle and joint interactions that would otherwise be very difficult to build into a model. Sagittal horizontal push strength was measured using this method for 8 able bodied and 4 tetraplegic subjects. There were clear trends in the data from the able-bodied subjects, and a fourth order polynomial (R-squared = 0.8) was fitted to the data for modelling purposes. Data for the tetraplegic subjects varied significantly from the able-bodied data, but inter-individual variation was such that no model would provide a satisfactory fit to the data indicating a very high degree of patient-specific behaviour. One multi-directional data set, consisting 1584 measurements in the sagittal plane, was gathered for an able-bodied subject. The main trends in this measured data were successfully captured by a model consisting of twelve fourth-order polynomials. Building on these measurements, and employing a human model in the constraint modelling environment, SWORDS, this thesis develops a conceptual design tool for comparing the effectiveness of different hand force paths. Initial simulations using hypothetical hand paths indicated that the proposed method for predicting the direction of the applied force needs to be verified, and likely refined, for hand paths that differ significantly from the traditional wheelchair push-rim path. This proposed procedure has the potential to be a powerful tool for optimising and modifying the design of wheelchairs or human powered devices to utilise previously untapped abilities for any given population.

Les travaux portant sur l’imagerie motrice (IM) ont montré l’identité des processus de production réelle et de représentation mentale du mouvement. Diverses voies expérimentales incluant la chronométrie mentale, les indices physiologiques (dont ceux issus de la neuroimagerie) ont été utilisées pour montrer que la représentation mentale de l’action repose sur les mêmes mécanismes que la préparation motrice et agirait sur la plasticité cérébrale. Le rôle de l’IM dans l’amélioration et l’apprentissage du mouvement, la récupération motrice après une lésion des effecteurs musculo-articulaires a été démontré chez le sujet sain. L’entraînement mental pourrait donc être intégré dans les protocoles thérapeutiques suite à une lésion centrale ou périphérique. Si plusieurs expériences ont montré son efficacité lorsqu’il est pratiqué après un accident vasculaire cérébral, aucune étude n’a porté sur son rôle dans la réadaptation fonctionnelle du patient médullo-lésé. L’hypothèse est que l’entraînement par IM associé à la rééducation classique peut facilement être intégrer dans les protocoles de réadaptation de ces patients et favoriserait la récupération et l’amélioration de la préhension chez les patients tétraplégiques / The mental representation of movement may help motor functions recovery after central or peripheral stroke. There is now ample evidence that motor performance and learning ma benefit from mental rehearsal in healthy subjects. However, whether the ability to perform motor imagery is preserved after spinal cord injury, the effectiveness of mental rehearsal on prehension rehabilitation has to be questioned. The review of relevant literature about motor imagery and rehabilitation show that integrating mental practice into the rehabilitation process may be a reliable tool. Traditional stroke rehabilitation therapies are usually based upon actual movement aimed at improving motor functions. However, this may be limited by muscle spasticity, muscle weakness, or persistent deficit in movement coordination. As motor imagery and actual movement share the same neural substrate, mental rehearsal may serve motor rehabilitation by involving cerebral plasticity and thus facilitating recovery. More specifically, it will be useful to elaborate guideline of mental practice in rehabilitation. Additional clinical issues, including brain mapping studies, need to be performed

La stimulation électrique fonctionnelle (FES) est présente depuis des décennies dans les centres de rééducation. Le principe de cette technique est de créer une dépolarisation de la membrane (potentiel d’action) des cellules excitables (axones ou myocytes) entrainant une contraction musculaire. Employée dans la plupart des cas pour le renforcement musculaire et la prévention des atrophies musculaires faisant suite à une lésion de la moelle épinière, la FES peut également être utilisée pour diminuer la spasticité et restaurer des mouvements des membres. Ainsi, certains dispositifs (neuroprothèses) utilisant la FES sont utilisés depuis plus de 25 ans, pour permettre à certains patients atteints de paralysies des membres supérieurs de pouvoir effectuer des préhensions. Les patients gagnent alors en autonomie dans les activités de la vie quotidienne ce qui limite leurs recours aux aides humaines. Cependant, bien que ce type de neuroprothèse se présente comme l’une des techniques les plus prometteuses pour le rétablissement de la fonction de préhension chez des sujets atteints d’une lésion de la moelle épinière, son utilisation reste limitée. En effet, les dispositifs de stimulation externe provoque des mouvements peu précis et les modes de pilote de cette stimulation, peu ergonomiques, ne sont pas accessibles à la plupart des patients lésés médullaires. Ces difficultés sont atténuées lorsque la stimulation est implantée et le mode de contrôle adapté à la pathologie. Parmi les dispositifs implantées, tous utilisent la stimulation des points moteurs pour rétablir des mouvements de main ce qui nécessite l’implantation de nombreuses électrodes et donc une opération chirurgicale lourde. Des complications liées aux matériels implantés peuvent apparaître au cours du temps. Ce travail de thèse propose une approche originale basée sur (i) la stimulation sélective nerveuse (à l’aide d’une électrode gouttière multi contact) pour rétablir des mouvements de préhension chez des patients tétraplégiques et (ii) l’utilisation de signaux émanant de muscles supra lésionnels pour le contrôle de cette stimulation. Des expérimentations humaines et animales réalisées en conditions aiguës ont démontré la faisabilité de notre approche. Ainsi, la stimulation du nerf sciatique par notre électrode gouttière a permis d’activer sélectivement plusieurs muscles antagonistes chez les 5 animaux de l’étude inclus dans l’étude. Une sélectivité intra fasciculaire est retrouvée chez 3 des 5 animaux. La stimulation du nerf médian chez un patient tétraplégique a permis d’activer sélectivement les muscles palmaris longuset flexor carpi radialis. Concernant le contrôle de la neuroprothèse, nous avons mis en évidence chez les 5 sujets tétraplégiques ayant participé aux expérimentations, une combinaison de muscles pouvant être utilisée pour piloter facilement un dispositif. Des contractions continues ou gradées de ces muscles peuvent être maintenues et ce, sans aucun apprentissage ou entrainement préalable. Les modalités de contrôle et les muscles préférentiels sont patient-dépendant. / Functional electrical stimulation (FES) is used for decades in rehabilitation centers. The principle of this technique is to create a membrane depolarization (action potential) of excitable cells (myocytes or axons) to cause a muscle contraction. Used in most cases for muscle strengthening and prevention of muscle atrophy following a spinal cord injury, FES can also be used to reduce spasticity and restore limb movement. For example, some devices (neuroprostheses) using FES are used for over 25 years, to allow some patients with paralysis of the upper limbs to perform hand movements. Patients then becoming more independent in activities of daily living which limits their use of human aid. However, although this type of neuroprosthesis stands as one of the most promising techniques for the recovery of the gripping function in subjects with spinal cord injury, its use is limited. Indeed, external stimulation devices cause imprecise movements and modes of control modes, not very ergonomic, are not accessible to most spinal cord injured patients. These difficulties are alleviated when the stimulation is implanted and control mode adapted to the pathology. Among the implanted devices all use the stimulation of motor pointsto restore hand movements which requires the implantation of many electrodes and therefore a major surgery. Complications related to the implanted materials can occur over time. This thesis proposes an original approach based on (i) selective nerve stimulation (using a multi contact cuff electrode) to restore gripping motion in tetraplegic patients and (ii) use of signals from supra lesional muscles to control this stimulation. Human and animal experimentations performed in acute conditions have demonstrated the feasibility of our approach. Thus, stimulation of the sciatic nerve by our cuff electrode allowed to selectively activate several antagonistic muscles in the 5 animals included in the study. Intra fascicular selectivity was found in 3 of 5 animals. The stimulation of the median nerve of a tetraplegic patient allowed to selectively activate the palmaris longus and flexor carpi radialis muscles. For the control of neuroprosthesis we demonstrated in the 5 tetraplegics subjects who participated in the experiments, a combination of muscles that can be used to easily control a device. Continuous or graded contractions of these muscles can be maintained, without any prior learning or training. The control modalities and preferential muscles are patient-dependent.

O estudo foi realizado com pessoas do sexo masculino e que viveram a experiência de sofrer um trauma que acarretou a lesão da medula espinal. Teve como objetivos: - compreender os significados que a pessoa atribui a sua experiência de ser lesado medular; - compreender a maneira como a dimensão atribuída ao significado de ser lesado medular se manifesta nas ações da pessoa; - desenvolver um modelo teórico representativo da experiência da pessoa que sofreu uma lesão traumática na medula espinal. Utilizou-se como referencial teórico o Interacionismo Simbólico e como referencial metodológico, a Teoria Fundamentada nos Dados. A estratégia para a obtenção dos dados foi a entrevista. Dos resultados emergiram dois fenômenos - Sobrevivendo ao Acidente e Vivendo uma Nova Realidade. Destes, identificou-se a categoria central - Re dimensionando limitações e possibilidades. A compreensão da experiência da pessoa que adquire uma lesão da medula espinal possibilitou reconhecer como as vivências, que ocorrem após a constatação da deficiência física, são percebidas por esses indivíduos, e como redimensionam os significados que vão atribuindo às situações diferentes que passam a vivenciar. O modelo teórico mostra que a experiência de ter se tornado um paraplégico ou um tetraplégico, é permeada pela vivência de limitações, e dependências, sentimentos e reações que vão sendo dimensionados e redimensionados à medida que vai re elaborando significados e valores, e desenvolvendo ações que lhe apontam possibilidades, as quais toma posse mediante as escolhas que faz para dar continuidade ou sentido à vida preservada, porém modificada / A study conducted with adult males who had undergone the experience of suffering trauma causing spinal cord injury (SCI). The aim was to: - understand the meaning patients gave to their experience of being an SCI bearer; - understand how the dimensions attributed to being a SCI bearer manifested itself in the person\'s behavior; - develop a theoretical model representative of the experience of the person who suffered SCI. The study used as a theoretical reference Symbolic Interactionism and used the Grounded Theory methodology. Data was collected through interviews. Two phenomena emerged from the findings: \"Surviving the Accident\" and \"Living a New Reality\". Of these the central category was identified as Re defining limits and possibilities. Understanding of the experience of SCI bearers made it possible to recognize how the events that occurred after the diagnosis of the physical deficiency is perceived by the persons and how they redefine the meaning attributed to the different situations they came to experience after suffering the acquired physical deficiency. The theoretical model reveals that the experience of having become a paraplegic or tetraplegic involved a lot of coping with limitations and dependency, emotions and reactions that go on being defined and redefined as the individual restructured values and developed actions that led to possibilities of overcoming, which were adopted through the choices made, so as to give continuity of meaning to the life that remained, although in its modified state

Following spinal cord injury (SCI), bladder management is of primary importance. As an activity of daily living (ADL), it affects community integration and quality of life (QOL). Women with SCI have neurogenic bladders that require self-catheterization, but they are unable to catheterize the native urethra, thus making bladder management physically and emotionally challenging. The purpose of this study was to understand the experiences of women with SCI who undergo urinary diversion surgery for bladder management. Qualitative data were collected using semistructured interviews from 10 women with SCI after urinary diversion surgery for bladder management. Qualitative Nvivo analysis of interview data was based on cognitive adaptation theory, which emphasizes adaptation to life-threatening events. Analysis showed improved quality of life among these 10 women, with improvements in independence, convenience, aesthetics, confidence, and sexuality. The women's lived experiences also showed enhanced privacy, dignity, normalcy, and safety. The lack of awareness in health care workers to offer this procedure was universally highlighted by participants. The social change implications include the need to advocate for women with SCI with bladder management needs who are unaware of this surgery option. Understanding the bladder management needs of women with SCI may help this population make choices for a better quality of life.

The Sjögren-Larsson syndrome (SLS) is a genetically determined syndrome with autosomal recessive inheritance originally and comprehensively described from Sweden. It is characterized by the three cardinal signs congenital ichthyosis, spastic di- or tetraplegia and mental retardation.The present investigation covers all 35 SLS patients alive in Sweden in 1978 and the genetic study all 58 SLS patients born in Sweden in 1886-1977. Forty-five of these were bom in a restricted area in the northeast of Sweden and five more had ancestors from this area. This concentration is probably the result of a founder effect — transmission of the SLS gene mutation from early immigrants to this area — followed by little migration to and from this area. Ancestors of SLS patients have been traced back to an early immigrant to this area in the 14th century.The mean yearly incidences of SLS per 100.000 newborn during the years 1901-1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 in the county of Norrbotten. The corresponding prevalence figures for SLS on 31 December 1978 were 0.4, 8.3 and 2.6 per 100.000 in these areas, respectively.The ichthyosis in the SLS was found to be congenital in the true sense of the word, as it was always seen at birth. The characteristic skin findings indicate that the use of replicas in ichthyotic patients may be a good complement to the clinical and histopathological examinations.All SLS patients had mental retardation and spastic di- or tetraplegia. The first observation of these symptoms was made between the age of 4 and 30 months.Small white glistening dots located in the ocular fundus were noted in all 30 SLS patients examined in this respect and seem to be pathognomonic for SLS.The fatty acid patterns of plasma phospholipids, cholesteryl esters, triglycerides and free fatty acids in SLS patients were examined. The results suggest that SLS is possibly a disorder of fatty acid metabolism leading to an altered composition of polyunsaturated fatty acids due to a disturbance in the A6-desaturation of essential fatty acids. / <p>Some photos have been censored.</p><p>En del foton har blivit censurerade.</p> / digitalisering@umu