ABSTRACT
El Síndrome X Frágil (SXF) es la principal causa heredada de Discapacidad intelectual (DI) y Trastorno del espectro autista (TEA). Se caracteriza por presentar un fenotipo conductual asociado a hiperactividad, déficit atencional, impulsividad, ansiedad, trastornos conductuales, espectro autista y retraso global del desarrollo. No existe actualmente un tratamiento farmacológico para el trastorno genético de base. El tratamiento farmacológico se focaliza en los síntomas que interfieren con la calidad de vida y aprendizaje, entre ellos la irritabilidad e hiperactividad. OBJETIVO: Evaluar cambios conductuales a través de la escala conductual ABC, de pacientes masculinos con diagnóstico de SXF tratados con psicoestimulantes y/o antipsicóticos en comparación a controles. MÉTODO: Se evalúa a 40 pacientes hombres con diagnóstico de SXF entre los años 2014 y 2017. Se utiliza la evaluación de la conducta mediante el puntaje en la subescala de irritabilidad e hiperactividad de la encuesta ABC-C y el registro de fármacos indicados. Se compara la sintomatología conductual en pacientes que no utilizan fármacos, aquellos que utilizan antipsicóticos, los que usan psicoestimulantes y pacientes tratados con ambos fármacos. RESULTADOS: La mediana de edad fue de 15,1 (±9,3) años. Del total de pacientes, el 42,5% reportó uso de fármacos, de éstos el 35% utilizó psicoestimulantes, 35% antipsicóticos y 30% la combinación de ambos. Se observa que solo el grupo que recibe tratamiento con psicoestimulantes y antipsicóticos en forma simultánea presenta diferencias con el subgrupo sin tratamiento farmacológico. CONCLUSIONES: En más de la mitad de nuestros pacientes se decide no utilizar tratamiento farmacológico. Sin embargo, dichos pacientes igualmente presentan sintomatología de irritabilidad e hiperactividad. Los pacientes que recibieron terapia asociada de psicoestimulantes y antipsicóticos presentan puntajes significativamente más altos en la escala de irritabilidad que aquellos que no recibieron tratamiento farmacológico. Este grupo, que constituye el 12,5% del total de la muestra, presenta un fenotipo conductual que genera mayores dificultades en la calidad de vida del paciente y su entorno.
Fragile X Syndrome (FXS) is the main inherited cause of Intellectual Disability and Autism Spectrum Disorder. It characteristically presents as a behavioral phenotype asso- ciated with hyperactivity, attention deficit, impulsivity, anxiety, behavioral disorders, autistic spectrum and global developmental delay. There is currently no pharmacological treatment for the underlying genetic disorder. Pharmacological treatment targets symptoms that interfere with quality of life and learning, including irritability and hyperactivity.OBJECTIVE: To evaluate behavioral changes through the ABC behavioral scale of male patients diagnosed with FXS treated with psychostimulants and / or antipsychotics compared to controls. METHOD: 40 male patients with a diagnosis of FXS between 2014 and 2017 were evaluated. The behavioral assessment was done by scoring the irritability and hyperactivity subscale of the ABC-C survey and by registering the prescribed drug. Behavioral symptomatology was compared in patients who do not use drugs, those who use antipsychotics, those who use psychostimulants and patients treated with both drugs. RESULTS: The median age was 15.1 (± 9.3) years. Of the total of patients, 42.5% were prescribed drugs, of these 35% used psychostimulants, 35% antipsychotics and 30% the combination of both. It was observed that the group that received treatment with both psychostimulants and antipsychotics simultaneously presented differences with the subgroup without pharmacological treatment.CONCLUSIONS: In more than half of our patients no pharmacological treatment is prescribed. However, these patients also show symptoms of irritability and hyperactivity. Patients who received associated therapy of psychostimulants and antipsychotics have significantly higher scores on the irritability scale than those who did not receive pharmacological treatment. This group, which constitutes 12.5% of the total sample, has a behavioral phenotype that generates greater difficulties in the patient's quality of life and their environment.
Subject(s)
Humans , Male , Child , Adolescent , Young Adult , Antipsychotic Agents/therapeutic use , Fragile X Syndrome/psychology , Fragile X Syndrome/drug therapy , Central Nervous System Stimulants/therapeutic use , Irritable Mood , Patient Acceptance of Health Care , Surveys and Questionnaires , Checklist , Problem BehaviorABSTRACT
OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10), Prader-Willi syndrome (n = 11), and Fragile X syndrome (n = 13) from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III). Afterwards, a full-scale intelligence quotient (IQ), verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns. .
OBJETIVO: investigar o perfil cognitivo e comportamental, sintomas e transtornos psiquiátricos em crianças com três diferentes síndromes genéticas, com antecedentes socioculturais e socioeconômicos semelhantes. MÉTODOS: trinta e quatro crianças, entre 6 e 16 anos, com as síndromes de Williams-Beuren (n = 10), de Prader-Willi (n = 11) e do X-Frágil (n = 13), dos ambulatórios de Psiquiatria Infantil e Genética Médica, foram avaliadas cognitivamente pela Escala Wechsler de Inteligência para Crianças (WISC-III). Posteriormente, o QI total, o QI Verbal, o QI de Execução, os escores ponderados dos subtestes e a frequência de sintomas e transtornos psiquiátricos foram comparados entre as síndromes. RESULTADOS: diferenças significativas foram encontradas entre as síndromes quanto ao QI Verbal e os subtestes verbais e de execução. A análise Post-hoc demonstrou que os escores dos subtestes vocabulário e compreensão foram significativamente superiores na síndrome de Williams-Beuren em relação às síndromes de Prader-Willi e do X-Frágil, e os escores dos subtestes cubos e armar objetos foram significativamente superiores na síndrome de Prader-Willi em relação às síndromes de Williams-Beuren e do X-Frágil. Além disso, houve diferença significativa entre as síndromes quanto às características comportamentais e os sintomas psiquiátricos. O grupo com síndrome de Prader-Willi apresentou maior frequência de hiperfagia e comportamentos autolesivos. Já o grupo com síndrome do X-Frágil apresentou maior frequência do déficit da interação social. Esta diferença quase alcançou a significância estatística. CONCLUSÃO: as três síndromes genéticas ...
Subject(s)
Adolescent , Child , Female , Humans , Male , Cognition Disorders/psychology , Fragile X Syndrome/psychology , Intellectual Disability/psychology , Mental Disorders/psychology , Prader-Willi Syndrome/psychology , Williams Syndrome/psychology , Cognition , Cross-Sectional Studies , Cognition Disorders/genetics , Educational Status , Fragile X Syndrome/diagnosis , Income , Intellectual Disability/genetics , Mental Disorders/genetics , Prader-Willi Syndrome/diagnosis , Wechsler Scales , Williams Syndrome/diagnosisABSTRACT
OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III). Afterwards, a full-scale intelligence quotient (IQ), verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns.
Subject(s)
Cognition Disorders/psychology , Fragile X Syndrome/psychology , Intellectual Disability/psychology , Mental Disorders/psychology , Prader-Willi Syndrome/psychology , Williams Syndrome/psychology , Adolescent , Child , Cognition , Cognition Disorders/genetics , Cross-Sectional Studies , Educational Status , Female , Fragile X Syndrome/diagnosis , Humans , Income , Intellectual Disability/genetics , Male , Mental Disorders/genetics , Prader-Willi Syndrome/diagnosis , Wechsler Scales , Williams Syndrome/diagnosisABSTRACT
Indivíduos com desenvolvimento atípico apresentam, freqüentemente, atraso de desenvolvimento da fala, precisando, muitas vezes, de procedimentos de comunicação alternativa com estímulos visuais, como o PECS (Picture Exchange Communication System) . Este trabalho apresenta resultados de duas pesquisas independentes, que investigaram a eficácia do PECS em ensinar a comunicação por troca de figuras e seus efeitos colaterais sobre a freqüência de verbalizações e de outros comportamentos específicos (manter contato visual e ficar sentado para P1; subir e descer escadas para P2). P1, 11 anos, foi diagnosticado com Síndrome do X-Frágil com características autísticas; e P2, 23 anos, é portadora de Síndrome de Down. Os dados mostraram que P2 aprendeu a fase 1 do PECS mais rapidamente do que P1. Houve aumento na freqüência de verbalizações de ambos participantes e as características estruturadas e concretas do treino contribuíram para o aumento da freqüência dos comportamentos específicos.(AU)
Individuals with developmental disabilities usually show delay in their speech development, so they use alternative communication procedures with visual stimulus like PECS (Picture Exchange Communication System). This study shows the results from two independent researches that investigated the efficacy of PECS and its collateral effects over verbalization frequency and over other specific behaviors (keeping eye contact and sit down during activities for P1; and go up and down stairs for P2). P1, 11 years old, was diagnosed with Fragile X Syndrome with autistic characteristics; and P2, 23 years old, has Down Syndrome. Data showed that P2 learned the first phase of PECS faster than P1. Verbalization frequency was increased and concrete and structured characteristics of the training contributed to increase the frequency of other behaviors.(AU)
Subject(s)
Fragile X Syndrome/psychology , Down Syndrome/psychology , Verbal BehaviorABSTRACT
Indivíduos com desenvolvimento atípico apresentam, freqüentemente, atraso de desenvolvimento da fala, precisando, muitas vezes, de procedimentos de comunicação alternativa com estímulos visuais, como o PECS (Picture Exchange Communication System) . Este trabalho apresenta resultados de duas pesquisas independentes, que investigaram a eficácia do PECS em ensinar a comunicação por troca de figuras e seus efeitos colaterais sobre a freqüência de verbalizações e de outros comportamentos específicos (manter contato visual e ficar sentado para P1; subir e descer escadas para P2). P1, 11 anos, foi diagnosticado com Síndrome do X-Frágil com características autísticas; e P2, 23 anos, é portadora de Síndrome de Down. Os dados mostraram que P2 aprendeu a fase 1 do PECS mais rapidamente do que P1. Houve aumento na freqüência de verbalizações de ambos participantes e as características estruturadas e concretas do treino contribuíram para o aumento da freqüência dos comportamentos específicos.
Individuals with developmental disabilities usually show delay in their speech development, so they use alternative communication procedures with visual stimulus like PECS (Picture Exchange Communication System). This study shows the results from two independent researches that investigated the efficacy of PECS and its collateral effects over verbalization frequency and over other specific behaviors (keeping eye contact and sit down during activities for P1; and go up and down stairs for P2). P1, 11 years old, was diagnosed with Fragile X Syndrome with autistic characteristics; and P2, 23 years old, has Down Syndrome. Data showed that P2 learned the first phase of PECS faster than P1. Verbalization frequency was increased and concrete and structured characteristics of the training contributed to increase the frequency of other behaviors.
Subject(s)
Communication Aids for Disabled , Down Syndrome/psychology , Fragile X Syndrome/psychology , Verbal BehaviorABSTRACT
A síndrome do x-frágil é a principal causa de deficiência mental herdada, suplantada apenas pela síndrome de Down, sendo a mulher a principal transmissora. Indivíduos com a síndrome do X-frágil apresentam um conjunto de características que pode causar um impacto no sistema familiar. Este estudo investiga o estresse e o autoconceito em 15 pais e mães de meninos com a síndrome do X-frágil, 15 de meninos com Síndrome de Down e 15 de meninos com desenvolvimento típico, baseado no modelo biopsicossocial de Bradford. Os resultados revelaram uma diferença significativa no autoconceito (self pessoal) entre as mães de crianças com a Síndrome do X-frágil e as mães de crianças com desenvolvimento típico, mas não entre aquelas e o grupo S. de Down, sugerindo que o fator da transmissão por si só não explica as diferenças no autoconceito. Não houve diferença entre os grupos na medida de estresse.(AU)
The Fragile X Syndrome is the major inherited intellectual disability, superseded only by Down Syndrome, and it is transmitted mostly by females. Patients with Fragile X Syndrome show a set of physical, clinical, behavioral and cognitive features that may impact the family structures, especially the parental figures. This study investigates the stress and self-concept of 15 parents of boys with Fragile X Syndrome, 15 parents of boys with Down syndrome and 15 with typical development accordingly to the biopsychosocial model of Bradford. The results showed a significant difference of self-concept between mothers of children with Fragile X Syndrome and typical developmental groups, but not in those with Down Syndrome, suggesting that the transmission factor solely does not explain differences in self-concept.(AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Fragile X Syndrome/psychology , Down Syndrome/psychology , Stress, Physiological/psychology , Self Concept , Parents/psychology , Parent-Child RelationsABSTRACT
A síndrome do x-frágil é a principal causa de deficiência mental herdada, suplantada apenas pela síndrome de Down, sendo a mulher a principal transmissora. Indivíduos com a síndrome do X-frágil apresentam um conjunto de características que pode causar um impacto no sistema familiar. Este estudo investiga o estresse e o autoconceito em 15 pais e mães de meninos com a síndrome do X-frágil, 15 de meninos com Síndrome de Down e 15 de meninos com desenvolvimento típico, baseado no modelo biopsicossocial de Bradford. Os resultados revelaram uma diferença significativa no autoconceito (self pessoal) entre as mães de crianças com a Síndrome do X-frágil e as mães de crianças com desenvolvimento típico, mas não entre aquelas e o grupo S. de Down, sugerindo que o fator da transmissão por si só não explica as diferenças no autoconceito. Não houve diferença entre os grupos na medida de estresse.
The Fragile X Syndrome is the major inherited intellectual disability, superseded only by Down Syndrome, and it is transmitted mostly by females. Patients with Fragile X Syndrome show a set of physical, clinical, behavioral and cognitive features that may impact the family structures, especially the parental figures. This study investigates the stress and self-concept of 15 parents of boys with Fragile X Syndrome, 15 parents of boys with Down syndrome and 15 with typical development accordingly to the biopsychosocial model of Bradford. The results showed a significant difference of self-concept between mothers of children with Fragile X Syndrome and typical developmental groups, but not in those with Down Syndrome, suggesting that the transmission factor solely does not explain differences in self-concept.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Parents/psychology , Self Concept , Stress, Physiological , Down Syndrome/psychology , Fragile X Syndrome/psychology , Parent-Child RelationsABSTRACT
Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.
Subject(s)
DNA/analysis , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/diagnosis , Genetic Testing/methods , Mouth Mucosa/chemistry , Mutation/genetics , Adolescent , Adult , Child , Child, Preschool , Feasibility Studies , Fragile X Syndrome/genetics , Fragile X Syndrome/psychology , Humans , Male , Polymerase Chain ReactionABSTRACT
A Síndrome do cromossomo X frágil (SXF) é a segunda maior causa de deficiência mental conhecida, afetando cerca de 1 em 4000 nascidos vivos, afetando a todas as populações e todos os grupos étnicos. A SXF apresenta um variado espectro de envolvimento, variando de problemas emocionais ou de aprendizado leves, até todos os níveis de deficiência mental. Os achados clínicos são consistentes mas não exclusivos, fato este que muitas vezes torna difícil seu reconhecimento através do exame físico. A SXF é, em hipótese, devida à ausência do produto gênico de FMR1. O mecanismo da mutação que dá origem à sindrome em praticamente a totalidade dos casos é a variação do número de cópias de uma repetição instável de trinucleotídeos CGG na extremidade 5 não traduzida do gene FMR1, e que tende a aumentar a cada geração, principalmente através das meioses femininas. O que ocorre é a metilação das repetições expandidas correlacionadas com a regulação da transcrição de FMR1. O presente trabalho teve por objetivo analisar a segregação do gene FMR1 em uma grande genealogia com 325 indivíduos, comparar os achados clínicos, psicológicos, fonoaudiológicos e moleculares entre os indivíduos afetados e não afetados pela lololoo na genealogia. Foram realizados exames físicos em 98 indivíduos, testes psicológicos em 65, fonoaudiológicos em 82 e moleculares em 86. Foram confirmados 8 casos de mutação completa (FM) e 7 casos de pré-mutação (PM) no gene FMR1 em 6 dos 63 núcleos familiares. A análise estatística nesta genealogia revelou uma associação entre a presença de PM no gene FMR1 e o comprometimento fonoaudiológico, e associação entre a FM no gene FMR1 e presença de palato alto, deficiência mental e comprometimento fonoaudiológico
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Genetics, Medical , Fragile X Syndrome/diagnosis , Fragile X Syndrome/etiology , Fragile X Syndrome/genetics , Fragile X Syndrome/psychology , Chromosome Disorders/geneticsABSTRACT
BACKGROUND: X-Fragile Syndrome. AIM: To compile information about the language, cognitive and behavior alterations in the X-Fragile Syndrome, using the results of previously published studies and to present the standardized instruments used as testing materials. CONCLUSION: studies used formal and informal testing to assess language. The results present variability regarding the linguistic deficits, which are influenced by the level of the cognitive deficit and behavior alterations. Alterations of the oral praxes and of speech articulation are also expected.
Subject(s)
Cognition Disorders/psychology , Fragile X Syndrome/psychology , Language Disorders/psychology , Language Tests , Cognition Disorders/diagnosis , Fragile X Syndrome/physiopathology , Humans , Language , Language Disorders/diagnosis , PhoneticsABSTRACT
BACKGROUND: X-Fragile Syndrome. AIM: To compile information about the language, cognitive and behavior alterations in the X-Fragile Syndrome, using the results of previously published studies and to present the standardized instruments used as testing materials. CONCLUSION: studies used formal and informal testing to assess language. The results present variability regarding the linguistic deficits, which are influenced by the level of the cognitive deficit and behavior alterations. Alterations of the oral praxes and of speech articulation are also expected.
Tema: síndrome do X-Frágil. Objetivo: compilar informações sobre as alterações de linguagem, cognição e comportamento na Síndrome do X-Frágil por meio do resultado de estudobibliográfico e apresentar os instrumentos padronizados usados nas avaliações. Conclusão: os estudos utilizaram procedimentos formais e informais para a avaliação da linguagem. Os resultados apresentaram variabilidade quanto às alterações lingüísticas, sofrendo influênciaquanto ao grau de retardo mental, e distúrbios comportamentais. Alterações práxicas orais e fonoarticulatórias também são previstas.
Subject(s)
Humans , Fragile X Syndrome/psychology , Language Tests , Cognition Disorders/psychology , Language Disorders/psychology , Phonetics , Language , Fragile X Syndrome/physiopathology , Cognition Disorders/diagnosis , Language Disorders/diagnosisABSTRACT
Both fragile X (FRAXA) syndrome and fragile XE (FRAXE) disorder are caused by an expansion of a polymorphic trinucleotide repeat and are associated with mental impairment. Based on the size and methylation status of the expansion, individuals are classified as having normal, intermediate, premutation or full mutation alleles. Unlike individuals with full mutations, carriers of intermediate and premutated alleles should not exhibit obvious clinical symptoms, since the FMR1 (FRAXA) or FMR2 (FRAXE) genes are not transcriptionally silenced. However, there are data suggesting a phenotype consequence of the FRAXA premutation alleles. We have investigated a population consisted of 276 males with idiopathic mental retardation or learning disability and a control sample of 207 non-affected boys in order to determine if there was a possible phenotype consequence of the expanded unmethylated alleles for FRAXA/FRAXE loci. Direct molecular diagnosis for the FRAXA/FRAXE loci were performed in both populations by using PCR technique and sizing of the amplification products by electrophoresis in denaturing polyacrilamide gels. No FRAXA/FRAXE premutations or FRAXE mutated alleles were observed. The 25 FRAXA full mutations alleles detected were confirmed by Southern blot analysis. We found an excess of intermediate alleles for both FRAXA and FRAXE in the target population, but it did not reach statistically significant difference. This suggests that relatively large unmethylated repeats may not be associated with an abnormal cognitive and/or behavioral phenotype. However, recent evidence that FRAXA premutation alleles in males have increased FMR1 message levels emphasizes the need of more studies using large sample sizes and proper control population to resolve this contradictory observation.
Subject(s)
Fragile X Syndrome/genetics , Intellectual Disability/genetics , Nerve Tissue Proteins/genetics , Nuclear Proteins/genetics , RNA-Binding Proteins , Trans-Activators/genetics , Adolescent , Brazil , Child , Child, Preschool , DNA Methylation , Fragile X Mental Retardation Protein , Fragile X Syndrome/psychology , Humans , Male , Nerve Tissue Proteins/physiology , Nuclear Proteins/physiology , Trans-Activators/physiology , Trinucleotide Repeat Expansion/physiologyABSTRACT
We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum-basal frontal regions-parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with autism.
Subject(s)
Fragile X Syndrome/diagnosis , Adolescent , Adult , Brain/pathology , Child , Electroencephalography , Female , Fragile X Syndrome/psychology , Humans , Magnetic Resonance Imaging , Male , Neurologic Examination , Neuropsychological Tests , Tomography, Emission-Computed, Single-PhotonABSTRACT
We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior portions of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum - basal frontal regions - parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with austin.
Subject(s)
Adult , Child , Female , Humans , Adolescent , Brain/pathology , Fragile X Syndrome/pathology , Electroencephalography , Fragile X Syndrome/psychology , Magnetic Resonance Spectroscopy , Neurologic Examination , Neuropsychological Tests , Tomography, Emission-Computed, Single-PhotonABSTRACT
Speech/language disorders are common in the fragile X syndrome. [Howard-Peebles, 1979: Am J Hom Genet 31:214-222; Renier et al., 1983: J Ment Defic Res 27:51-59; Sparks, 1984: Birth Defects and Speech-Language Disorders, pp. 39-43; Hanson et al., 1986: Am J Med Genet 23:195-206]. Verbal paraphasias have been considered a rare feature and word-finding difficulties have seldom been reported. Here we report on ten Brazilian patients who were evaluated for speech/language disturbances and found that word-finding difficulties were present in 50% of the cases, which is a slightly higher frequency than that of clear dyspraxia. We suggest, therefore, that word-finding difficulties and verbal dyspraxia can be a common feature within the spectrum of this syndrome. Additional speech findings are discussed.