ABSTRACT
Introducción: Aproximadamente el 60% de las personas con síndrome de X frágil también reciben un diagnóstico de trastorno del espectro autista. Entre estos trastornos existen tantas semejanzas como diferencias, que provocan cuadros clínicos distintos, por lo que es importante el diagnóstico diferencial temprano, de cara a conocer los déficits y fortalezas de cada niño y ajustar el tipo de intervención lo mejor posible. El presente estudio tiene como objetivo realizar una aproximación al conocimiento de la relación y las diferencias de ambas condiciones, y contribuir al diagnóstico diferencial y la posterior intervención.Materiales y métodos: Siguiendo el protocolo PRISMA-ScR, se realizaron búsquedas en las bases de datos de PsycInfo, Medline, SCOPUS y Web of Science, incluyendo los artículos científicos empíricos centrados en la etapa de los 0 a los 6 años desde 2010 a 2020.Resultados: Se seleccionaron 22 estudios en los que se trata el desarrollo inicial de estos dos trastornos y su confluencia. Los resultados se reagruparon en función de cambios morfológico-estructurales, y de las áreas cognitivas, comunicativas, socioemocionales y sensoriomotoras.Conclusiones: A nivel morfológico-estructural, parecen existir ciertos patrones de crecimiento cerebral diferenciadores entre estos trastornos. Asimismo, existen ciertas señales de alarma en las distintas áreas del desarrollo que son indicativas de comorbilidad o permiten la discriminación entre patologías, y existe cierto debate en torno a algunas de ellas, como el nivel atencional o los manierismos repetitivos.(AU)
Introduction: Nearly 60% of those diagnosed with fragile X syndrome show comorbidity with autism. Thus, there are similarities and differences between both conditions that lead to very different clinical manifestations. However, an early differential diagnosis may help professionals to detect deficits and enhance strengths to apply the best suitable intervention. The purpose of this scoping review was to provide a comprehensive overview of the relation and the differences between autism and fragile X syndrome to orientate diagnosis and intervention. Materials and methods: The research for articles was carried out in PsycInfo, Medline, SCOPUS and Web of Science, including scientific articles published from 2010 to 2020 and children aged 0-6 years. The scoping review followed the PRISMA-ScR criteria. Results: 22 studies were selected. Results were reviewed in terms of structural and morphological changes and cognitive, communicative, social-emotional and sensory-motor skills. Conclusions: Different growing cerebral patterns are observed in both conditions. Besides, there are early signs from the different developmental areas studied that show comorbidity or allow early differentiation. However, attentional function or repetitive mannerisms, among others, need further research.(AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Early Diagnosis , Autism Spectrum Disorder , Cognition , Communication , Emotions , Comorbidity , Neurology , Nervous System DiseasesABSTRACT
RESUMEN Se realizó un estudio descriptivo a una familia de Cali, Colombia, en el cual se evaluaron nueve pacientes, tres de los cuales presentaban discapacidad intelectual sin diagnóstico etiológico anterior. El caso índice fue diagnosticado con el síndrome X frágil mediante pruebas moleculares de ADN. Se realizaron pruebas en cascada a todos los miembros de la familia disponibles, identificando dos individuos adicionales con la mutación completa y cuatro portadores del alelo con pre mutación. Con este informe pretendemos contribuir a la epidemiología colombiana del síndrome y destacamos la importancia del diagnóstico etiológico de la discapacidad intelectual y proporcionar un tratamiento integral y específico a las personas afectadas. Además se busca identificar a los portadores de la pre mutación o mujeres con mutación completa sin fenotipo clásico para el asesoramiento genético y la educación sobre posibles patologías asociadas.
SUMMARY A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis. The proband was diagnosed with Fragile X syndrome by DNA molecular testing and, cascade testing, performed on all available family members, identifying two additional individuals with the full mutation and four carriers of a premutation allele. With this report we seek to contribute to Colombian epidemiology of the syndrome and emphasize the importance of diagnosis to provide a comprehensive and specific treatment to those affected. Further we seek to identify premutation carriers in their families or women with a full mutation without the classic phenotype for genetic counseling and education about potential associated pathologies.
Subject(s)
Humans , Fragile X Syndrome , Intellectual Disability , ColombiaABSTRACT
INTRODUCTION: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS. CLINICAL OBSERVATION AND METHODS: CGG mutation dynamics of the FMR1 gene were studied in DNA samples from peripheral blood from the index case and other relatives of first, second and third degree by TP-PCR, and the percentage methylation. RESULTS: Diagnosis of FXS was confirmed in three patients (21.4%), eight patients (57.1%) were confirmed in the premutation range transmitters, one male patient with full mutation/permutation mosaicism (7.1%) and two patients (14.3%) with normal study. Of the eight permutated patients, three had FXPOI and one male patient had FXTAS. DISCUSSION: Our study suggests the importance of making an early diagnosis of SXF in order to carry out a family study and genetic counselling, which allow the identification of new cases or premutated patients with FMR1 gene- associated syndromes (FXTAS, FXPOI).
Subject(s)
Ataxia/genetics , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Primary Ovarian Insufficiency/genetics , Tremor/genetics , Trinucleotide Repeats , Adolescent , Adult , Aged , Ataxia/diagnosis , Child , Child, Preschool , Female , Fragile X Syndrome/diagnosis , Genetic Markers , Genetic Testing , Humans , Male , Middle Aged , Mutation , Primary Ovarian Insufficiency/diagnosis , Tremor/diagnosisABSTRACT
Se presenta el caso de un niño de cinco años, portador de un síndrome de X frágil con epilepsia; consultan los padres motivados principalmente por las manifestaciones disruptivas y dificultades en el lenguaje. Se exponen fragmentos de las sesiones con el niño, particularmente su forma de relación y modo lúdico, entrevistas familiares y trabajo escolar, con la intención de analizar la fantasmática parental en relación a la organicidad y la ligazón convulsión-muerte que anudan la historia de Exequiel.(AU)
The case of a five-year-old child, carrier of fragile X syndrome with epilepsy,is presented. His parents consult primarily motivated by disruptive behaviorsand difficulties in language Fragments of sessions with the child are exposed, particularly his relationalpatterns and ludic mode, family interviews and school work. This is done inorder to analyse the fantasies of the parents in relation to organ damage andthe link convulsion-death that ties ExequielÆs history. (AU)
Subject(s)
Psychoanalysis , Child , SymbiosisABSTRACT
Se presenta el caso de un niño de cinco años, portador de un síndrome de X frágil con epilepsia; consultan los padres motivados principalmente por las manifestaciones disruptivas y dificultades en el lenguaje. Se exponen fragmentos de las sesiones con el niño, particularmente su forma de relación y modo lúdico, entrevistas familiares y trabajo escolar, con la intención de analizar la fantasmática parental en relación a la organicidad y la ligazón convulsión-muerte que anudan la historia de Exequiel.
The case of a five-year-old child, carrier of fragile X syndrome with epilepsy,is presented. His parents consult primarily motivated by disruptive behaviorsand difficulties in language Fragments of sessions with the child are exposed, particularly his relationalpatterns and ludic mode, family interviews and school work. This is done inorder to analyse the fantasies of the parents in relation to organ damage andthe link convulsion-death that ties Exequiels history.
