ABSTRACT
OBJECTIVES@#To analyze the clinical and genetic characteristics of children with autosomal dominant neurodevelopmental disorders caused by kinesin family member 1A (KIF1A) gene variation.@*METHODS@#Clinical and genetic testing data of 6 children with KIF1A gene de novo heterozygous variation diagnosed in Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine from the year 2018 to 2020 were retrospectively analyzed. Pathogenic variants were identified based on whole exome sequencing, and verified by Sanger sequencing. Moreover, the effect of variants on three-dimensional structure and stability of protein was analyzed by bioinformatics.@*RESULTS@#Among 6 patients there were 4 males and 2 females, and the age of consultation varied from 7 months to 18 years. All cases had varying degrees of motor developmental delay since childhood, and 4 of them had gait abnormalities or fell easily. In addition, 2 children were accompanied by delayed mental development, epilepsy and abnormal eye development. Genetic tests showed that all 6 cases had heterozygous de novo variations of KIF1A gene, including 4 missense mutations c.296C>T (p.T99M), c.761G>A (p.R254Q), c.326G>T (p.G109V), c.745C>G (p.L249V) and one splicing mutation c.798+1G>A, among which the last three variants have not been previously reported. Bioinformatics analysis showed that G109V and L249V may impair their interaction with the neighboring amino acid residues, thereby impacting protein function and reducing protein stability, and were assessed as "likely pathogenic". Meanwhile, c.798+1G>A may damage an alpha helix in the motor domain of the KIF1A protein, and was assessed as "likely pathogenic".@*CONCLUSIONS@#KIF1A-associated neurological diseases are clinically heterogeneous, with motor developmental delay and abnormal gait often being the most common clinical features. The clinical symptoms in T99M carriers are more severe, while those in R254Q carriers are relatively mild.
Subject(s)
Male , Female , Humans , Child , Retrospective Studies , China , Mutation , Epilepsy/genetics , Neurodevelopmental Disorders/genetics , Kinesins/geneticsABSTRACT
RESUMOObjetivo:identificar a influência da musicoterapia no comportamento e qualidade de vida de crianças portadoras de retardo do desenvolvimento neuropsicomotor (RDNPM).Método:pesquisa experimental, com aplicações de musicoterapia (em um grupo de crianças) realizada na associação especializada em Cruz das Almas - Bahia, composta por 17 crianças portadoras de RDNPM com idade entre 5 a 12 anos. Foi observado o comportamento das crianças envolvendo aspectos emocionais, físicos, sociais e escolares.Resultados:houve evolução em todos os aspectos, sendo esta melhora significativa para os domínios Capacidade Emocional e Capacidade Escolar, mostrando os efeitos benéficos da musicoterapia.Conclusão:a terapia através da música torna-se uma opção de tratamento para crianças com RDNPM, melhorando a sua qualidade de vida.
RESUMENObjetivo:identificar la influencia de la musicoterapia en las alteraciones de la calidad de vida en niños portadores de retardo del desarrollo neuropsicomotor (RDPM).Método:se trata de pesquisa experimental con aplicaciones de musicoterapia realizada en una asociación especializada en la ciudad de Cruz das Almas - Bahia, compuesta de 17 niños portadores de RDPM con edad entre 5 y 12 años. Ha sido observado el comportamiento de niños, involucrando aspectos emocionales, físicos, sociales y escolares.Resultados:hubo evolución en todos los aspectos, con mejoría significativa para Capacidad Emocional y Escolar, mostrando los efectos benéficos de la musicoterapia.Conclusión:la terapia através de la música se vuelve una opción de tratamiento para niños con RDPM, mejorando así la calidad de vida.
ABSTRACTObjective:to identify the influence of music therapy on the behavior and quality of life of children with neuropsychomotor development delay (NPMDD).Method:experimental research, with applications of music therapy (in a group of children) held in the specialized association in Cruz das Almas - Bahia, composed of 17 children with NPMDD aged 5 to 12 years. The behavior of children involving emotional, physical, social and school aspects was observed.Results:there was an evolution in all aspects, being this improvement significant to Emotional Capacity and School Capacity domains, showing the beneficial effects of music therapy.Conclusion:music therapy becomes a treatment option for children with NPMDD, improving their quality of life.
ABSTRACT
Este trabajo de investigación tiene como principal propósito Indagar acerca de la situación en la que se encuentran niños y jóvenes discapacitados integrados en la escuela común: si son víctimas de maltrato por parte de sus compañeros que no tienen algún tipo de discapacidad; si son objeto de algún tipo de victimización por parte de los adultos-padres y/ o maestros y si, por todo ello, son doblemente víctimas de la violencia.En función del propósito enunciado, los objetivos que se han establecido son: Determinar y caracterizar la existencia de maltrato en niños y adolescentes discapacitados integrados en la escuela común, en función de sus características gemográficas. Se realizó un estudio exploratorio de niños y adolescentes con algún tipo de discapacidad, del 2º Ciclo de Educación General Básica (EGB.), Ciclo Básico Unificado (CBU) y Ciclo de Especialización, integrados en escuelas oficiales y privadas de la ciudad de Córdoba (Capital), con edades comprendidas entre los 10 y 17 años. Se seleccionaron por sorteo 50 alumnos discapacitados en las escuelas involucradas y se conformó un grupo control de 50 niños y adolescentes no discapacitados de edad y sexo similares, que permitieron la comparación entre ambos gruposSe aplicaron entrevistas a docentes de grado, maestros integradores y personal de los equipos técnicos de las escuelas relevadas. A través de los resultados obtenidos se pudo comprobar que los niños y adolescentes con discapacidad, objeto de nuestro estudio, padecen maltrato por parte de sus compañeros, maltrato que se correlaciona positivamente con la edad, ya que, a medida que crecen se incrementan, se sienten menos ligados, menos contenidos por los compañeros de su misma edad. Se observan además factores de riesgo familiares, sociales y ambientales que refuerzan este doble proceso de victimización...
This work of investigation has as principal intention Investigate brings over of the situation in which there are children and young disabled persons integrated to the common school: if theyare victims of mistreatment that their companions who do not have any type of disability; if they are an object of some type of victimization on the part of the adults - parents y/or main and if, forall this, they are doubly victims of the violence. Depending on the purpose set out the objectives that have been established are: To determine and to characterize the existence of mistreatment in children and teen disabled persons integrated to the common school, depending on their demographic characteristics. There was realized an exploratory study of children and teenagers by some type of disability, of 2 º Cycle of General Basic Education (EGB.), Basic Unified Cycle (CBU) and Cycle of Specialization, integrated in official and private schools of the city of Córdoba(Cardinal), withages included between 10 and 17 years.50 disabled pupils were selected by drawing in the involved schools and a group conformed control of 50 children and not disabled similar teenagers of age and sex, who allowed the comparison between both groups.Interviews were applied to teachers of degree, integration teachers and personnel of the technical equipments of the relieved schools. Through the results obtained it was possible to verify that the children and teenagers with disability, object of our study, suffer mistreatment on the part of their companions, mistreatment that is correlated positively by the age, since, as they grow they increase. They feel fewer ligatures, fewer contents for the companions of the same age. Are observed in addition: familiar, social and environmental factors of risk that reinforce this double process of victimization...
Subject(s)
Humans , Child , Adolescent , Adolescent , Battered Child Syndrome , Child Abuse , Crime Victims , Intellectual Disability , Child Abuse/psychology , Psychology, Child , Battered Child Syndrome/therapy , Violence/psychology , Disability Evaluation , Schools , Systems IntegrationABSTRACT
This study reviews the main approaches of the functional alterations that may explain language alterations in children with Specific Language Impairment (SLI). It is estimated that at least 7.4% of the children have difficulties in their language development and most of them do not have other developmental delay. Although the linguistic difficulties could apparently be resolved in children with SLI, there is a group of children for whom the impairment persists across time and throughout their school age, mostly related with reading and writing difficulties; as a consequence, several barriers in their social and academic achievement may appear. Two theoretical positions pretend to explain functional alterations in the language of children who suffer the Specific Language Impairment: the processing and the linguistic approaches. The processing view suggests that the core disturbance is related to the working memory, while the lingüistic view proposes that the inherited grammar abilities explain the language difficulties. Lastly it is possible to conclude that children with Specific Language Impairment may show difficulties as in non word repetition tests as in grammatical language abilities that may explain the processing and the linguistic marker views, respectively. The understanding of the functional alterations in Specific Language Impairment may lead to design the therapeutic and educational strategies in this group of children.
Este estudio revisa los principales enfoques de las alteraciones que pueden explicar las alteraciones del lenguaje en los niños con Trastornos Específicos del Desarrollo del Lenguaje (TEDL). Se estima que en por lo menos en un 7.4% de los niños tienen dificultades en su desarrollo del lenguaje y la mayoría de ellos no tienen otro retraso en el desarrollo. Aunque las dificultades lingüísticas aparentemente podrían ser resultas en niños con TEDL, hay un grupo de niños en los que el daño persiste a través del tiempo y a través de la edad escolar y la mayoría está relacionado con las dificultades de la lectura y la escritura; como consecuencia, pueden aparecer algunas barreras en su logro social y académico. Dos posiciones teóricas pretenden explicar las alteraciones funcionales del lenguaje de los niños que sufren Trastornos Específicos del Desarrollo del Lenguaje: el enfoque de procesamiento y el lingüístico. La visión del procesamiento sugiere que el principal problema está relacionado con la memoria operativa, mientras la visión lingüística propone que las habilidades gramaticales heredadas explican las dificultades del lenguaje. Por último, es posible concluir que los niños con Trastornos Específicos del Desarrollo del Lenguaje pueden mostrar dificultades tanto en las pruebas de repetición tanto en las habilidades gramaticales del lenguaje que puedan explicar los marcadores de las visiones del procesamiento y lingüísticas, respectivamente. La comprensión de las alteraciones en los Trastornos Específicos del Desarrollo del Lenguaje puede llevar al diseño de Estrategias Terapéuticas y educativas en los grupos de niños.