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Purpose. The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. Methods. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited functional characterisation of pathogenic variants in ASXL3 and discuss current understanding of the consequences of the different ASXL3 variants. Results. In this comprehensive analysis of ASXL3-related syndrome, we define its natural history and clinical evolution occurring with age. We report familial ASXL3 pathogenic variants, characterise the phenotype in mildly affected individuals and discuss non-penetrance. We also discuss the role of missense variants in ASXL3. We delineate a variable but consistent phenotype. The most characteristic features are neurodevelopmental delay with consistently limited speech, significant neuro-behavioural issues, hypotonia and feeding difficulties. Distinctive features include down-slanting palpebral fissures, hypertelorism, tubular nose with a prominent nasal bridge and low-hanging columella. Conclusion. The presented data will inform clinical management of individuals with ASXL3-related syndrome and improve interpretation of new ASXL3 sequence variants.

A amputação do membro inferior constitui evento traumático físico e emocional para quem o sofre, pois perde-lo acarreta grande repercussão física, tal que a reabilitação é o procedimento para o indivíduo amputado voltar a realizar a marcha mais naturalmente. O estudo almeja verificar a resposta dinâmica dos pés protéticos, durante a marcha, em um indivíduo amputado. Realizou-se a avaliação da marcha de uma voluntaria com 36 anos, amputada transtibial, adaptada a prótese e utilizando aparelho sensor inercial, marca Free4act, com a utilização de dois tipos de pés protéticos: pé SACH e pé Dinâmico, ambos da marca OttoBock. A coleta ocorreu em duas etapas: primeiramente, a voluntária realizou caminhada em esteira com os pés selecionados por 5 minutos para familiarização; posterior, caminhou em linha reta por 15 metros com o sensor ligado. Os resultados da velocidade, cadência, comprimento do passo, porcentagem da fase de apoio e balanço foram anotados numa tabela para posterior comparação. O pé SACH aumenta a velocidade e a cadência da marcha, porém quando comparado com o membro inferior não amputado, este apresenta menor comprimento do passo. O pé dinâmico possui melhor resposta comparado ao pé SACH, de modo que se assemelha com o membro inferior não amputado, como também com o pé humano. A avaliação espaço-temporal da marcha, por sensor inercial, demonstrou-se útil, ao passo que gerou dados quantitativos reprodutíveis. Logo, há necessidade de realizar um estudo com amostragem maior e com diferentes níveis de amputações para obter dados mais significativos. The amputation of the lower limb is physically and emotionally traumatic event for those who suffer, because it loses it brings great physical impact, such that rehabilitation is the procedure for the amputee to return to perform walking more naturally. The study aims to verify the dynamic response of prosthetic feet during gait in an amputee individual. This was the assessment of gait of a voluntary 36, amputated transtibial adapted the prosthesis and using inertial sensor device, Free4act brand, with the use of two types of prosthetic feet: SACH foot and dynamic foot, both Ottobock brand. The collection took place in two stages: first, voluntary held walk on a treadmill with the feet selected for 5 minutes for familiarization; later, she walked straight for 15 meters with the connected sensor. The results of speed, cadence, stride length, percentage of the stance phase and balance sheet were recorded in a table for comparison. The SACH foot increasing the speed and cadence gait, but not when compared to the lower limb non-amputee, that presents a smaller length step. The dynamic foot has better response compared to SACH foot, so that resembles the non-amputee leg as well as the human foot. Conclusion: The evaluation spatiotemporal gait by the inertial sensor, proved to be useful, while generating reproducible quantitative data. Therefore, there is a need to conduct a study with more patients and with different levels of amputations for more meaningful data.