Comparison of auditory event-related potentials between children with benign childhood epilepsy with centrotemporal spikes and children with temporal lobe epilepsy.

The abnormal brain discharges observed in benign childhood epilepsy with centrotemporal spikes (BECTS) and temporal lobe epilepsy (TLE) are located close to areas responsible for auditory and language processing. This study aimed to analyze the results of auditory event-related potentials (P300) in children with BECTS and TLE in order to assess whether the epileptic activity in centrotemporal and temporal regions may compromise the integrity and physiology of auditory system structures. This was a prospective, comparative, and cross-sectional study. Group I (GI) consisted of 13 children diagnosed with BECTS, group II (GII), 7 children diagnosed with TLE, and control group (GIII), 16 healthy children, with no hearing or academic complaints. After neurological and basic audiological assessments, P300 was applied. The P300 latency and amplitude were compared between groups. Regarding latency, GI showed 324.1 (+31.5) ms, GII 336.3 (+23.5) ms, and GIII 318 (+27.7) ms. Amplitudes were 4.80 (+3.2) µV in GI, 4.7 (+2.5) µV in GII, and 5.8 (+2.4) µV in GIII. Although children with BECTS showed prolonged latencies and reduced amplitudes, these differences were not considered statistically significant. Children with TLE showed statistically significant prolonged P300 latency compared with the control group (P=0.037). We speculate that abnormal electrical discharges in centrotemporal and temporal regions led to the slowing of auditory processing in our sample.

Characterization of language and reading skills in familial polymicrogyria.

Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination, giving the cortical surface an irregular and gross appearance. The severity of clinical manifestations correlates with the extent of cortical involvement. The objective of the present study was to describe three families with linguistic features of developmental language disorder and reading impairment, and to establish a neuroanatomic correlation through neuroimaging. Subjects have been submitted to a comprehensive protocol including psychological assessment, language evaluation, neurological examination, and neuroimaging investigation. In our families, children usually had the diagnosis of developmental language disorder while adults had the diagnosis of reading impairment. MRI showed perisylvian polymicrogyria in several subjects of each family. Our data support the idea that there is a co-occurrence of developmental language disorder and reading impairment and both conditions may be associated with polymicrogyria.

Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior.

We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals.

Specific language impairment: linguistic and neurobiological aspects.

Specific language impairment (SLI) occurs when children present language maturation, at least 12 months behind their chronological age in the absence of sensory or intellectual deficits, pervasive developmental disorders, evident cerebral damage, and adequate social and emotional conditions. The aim of this study was to classify a group of children according to the subtypes of SLI and to correlate clinical manifestations with cortical abnormalities. Seventeen children with SLI were evaluated. Language assessment was based on standardized test (Peabody) and a non-standardized protocol, which included phonological, syntactical, semantical, pragmatical and lexical aspects of language. All children, except one, had abnormal MRI. Thirteen children presented perisylvian polymicrogyria. The MRI findings in the remaining three patients were: right frontal polymicrogyria, bilateral fronto-parietal atrophy, and hypogenesis of corpus callosum with Chiari I. The data show that patients with posterior cortical involvement tended to present milder form of SLI (no sign of articulatory or bucofacial praxis disturbance), while diffuse polymicrogyric perisylvian cortex usually was seen in patients who presented severe clinical manifestation, mainly phonological-syntactic deficit. In conclusion, SLI may be associated with perisylvian polymicrogyria and clinical manifestation may vary according to the extent of cortical anomaly.

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders.

Fragile X syndrome is a frequent genetic disease associated to developmental disorders, including learning disability, mental retardation, behavioral problems and pervasive developmental disorders (autism and related conditions). We studied a sample of 82 individuals (69 males and 13 females) presenting with pervasive developmental disorders using three techniques for the diagnosis of fragile X syndrome (FXS). Cytogenetic analysis detected the fragile site in four males, but only one showed a consistent positive rate. Molecular study based on the PCR technique was inconclusive for most females (92.3%), which where latter submitted to Southern blotting analysis, and for one male (1.4%), excluding the FRAXA mutation in the remaining male individuals (98.6%). Molecular tests using the Southern blotting technique confirmed only one positive case (1.2%) in a male subject. These results showed that Southern blotting analysis of the FRAXA mutation has the best sensitivity and specificity for the diagnosis of FXS but also validated the PCR technique as a confinable screening test.

[Characterization of the linguistic profile of a family with Perisylvian Syndrome]. / Caracterização das manifestações lingüísticas de uma família com Síndrome Perisylviana.

BACKGROUND: Perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical spectrum includes subtle language disturbances on one end and more severe characteristics such as prominent pseudobulbar signs and refractory epilepsy on the other end. Other studies have already associated perisylvian polymicrogyria with developmental language disorders or specific language impairment. AIM: to describe the language deficits of four members of a family with Perisylvian Syndrome, and to correlate these deficits to neuroimaging data. METHOD: The patients underwent neuroimaging investigation, psychological assessment using the Weschler Intelligence Scales, and specific speech-language evaluation. The following tests were used for the assessment of vocabulary, phonology, syntax, pragmatics, reading and writing: Thematical Pictures of Yavas, ABFW-Child Language Test, Peabody Picture Vocabulary Test (PPVT), and other specific protocols. RESULTS: Magnetic resonance imaging revealed perisylvian polymicrogyria in all of the subjects, with varied locations and extensions. Speech-language assessment indicated significant oral and written language deficits in all of the subjects. CONCLUSION: The obtained data indicate that language impairment can co-exist with reading deficits in members of the same family. Neuroimaging findings reveal cortical alterations that are associated to specific language impairments within the spectrum of the Perisylvian Syndrome. Another important aspect evidenced by this study is the similarities in the language profiles of siblings and mother, suggesting that a variety of linguistic manifestations exist within the spectrum of the syndrome. Perisylvian polymicrogyria can be one of the neurobiological malformations involved in the manifestation of these deficits.

Effects of age and cognition on a cross-cultural paediatric adaptation of the Sniffin' Sticks Identification Test.

OBJECTIVES: To study the effects of age and cognition on the performance of children aged 3 to 18 years on a culturally adapted version of the 16 item smell identification test from Sniffin' Sticks (SS16). METHODS: A series of pilots were conducted on 29 children aged 3 to 18 years old and 23 adults to produce an adapted version of the SS16 suitable for Brazilian children (SS16-Child). A final version was applied to 51 children alongside a picture identification test (PIT-SS16-Child) to access cognitive abilities involved in the smell identification task. In addition 20 adults performed the same tasks as a comparison group. RESULTS: The final adapted SS16-Child was applied to 51 children with a mean age of 9.9 years (range 3-18 years, SD=4.25 years), of which 68.3% were girls. There was an independent effect of age (p<0.05) and PIT-SS16-Child (p<0.001) on the performance on the SS16-Child, and older children reached the ceiling for scoring in the cognitive and olfactory test. Pre-school children had difficulties identifying items of the test. DISCUSSION/CONCLUSIONS: A cross-culturally adapted version of the SS16 can be used to test olfaction in children but interpretation of the results must take age and cognitive abilities into consideration.

Twin-twin transfusion syndrome: neurodevelopmental screening test.

OBJECTIVE: To assess the neurodevelopmental functions (cognition, language and motor function) of survivors of twin-twin transfusion syndrome (TTTS). METHOD: Observational cross-sectional study of a total of 67 monochorionic diamniotic twins who underwent fetoscopic laser coagulation (FLC) for treatment of TTTS. The study was conducted at the Center for Investigation in Pediatrics (CIPED), Universidade Estadual de Campinas. Ages ranged from one month and four days to two years four months. Bayley Scales of Infant and Toddler Development Screening Test-III, were used for evaluation. RESULTS: Most children reached the competent category and were classified as having appropriate performance. The preterm children scored worse than term infants for gross motor subtest (p = 0.036). CONCLUSION: The majority of children reached the expected development according to their age. Despite the good neurodevelopment, children classified at risk should be monitored for development throughout childhood.

Brief report: acrocallosal syndrome and autism.

The authors describe a boy presenting with acrocallosal syndrome and autism. Clinical features included craniofacial dysmorphisms, polydactyly, and mental retardation, besides behavioral symptoms compatible with autism. Neuroimaging revealed hypoplasia of the corpus callosum and cerebellar abnormalities. The role of this entity and other associated conditions in autism may be coincidental or reveal new clues to the understanding of autism as a behavioral syndrome.

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.

With the aim of analyzing which complementary tests are relevant in the diagnostic evaluation of individuals with pervasive developmental disorders, a protocol of clinical and laboratory evaluation was applied in 103 outpatients. The protocol included chromosomal analysis, screening for inborn errors of metabolism, cytogenetic and molecular study of the FRAXA, FRAXE, and FRAXF mutations, EEG, SPECT, and magnetic resonance imaging study. Eighty-four subjects concluded the complementary tests and were classified either as having autism, atypical autism or Asperger syndrome according to the DSM-IV criteria. Sixteen individuals, all bellonging to the two autistic groups, presented genetic or enviromental factors that may have lead to the behavioral disorders, showing the importance of diagnostic evaluation in this group of conditions. Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.

Self-esteem, social support perception and seizure controllability perception in adolescents with epilepsy.

OBJECTIVE: Compare the self-esteem of adolescents with epilepsy and adolescents without epilepsy and relate it to social support and seizure controllability perception. METHOD: The study sample consisted: case participants (34 subjects) attending the pediatric epilepsy clinic of University Hospital and control participants (30 subjects) from public schools in Campinas-SP. The instruments utilized were: identification card with demographic and epilepsy data, a semi-structured interview on aspects of the disease, and a Self-Esteem Multidimensional Scale. RESULTS: There was no significant difference between the two groups but majority of adolescents with epilepsy presented higher self esteem rate, have knowledge about epilepsy, presented high levels of social support and seizure controllability perception. There was no significant relationship between social support and seizure controllability perception with self-esteem. CONCLUSION: Knowledge about epilepsy, social support such good controllability seizure perception seem are important contingencies for a better evaluation of self esteem in adolescents with epilepsy.

Auditory processing disorder in patients with language-learning impairment and correlation with malformation of cortical development.

Malformations of cortical development have been described in children and families with language-learning impairment. The objective of this study was to assess the auditory processing information in children with language-learning impairment in the presence or absence of a malformation of cortical development in the auditory processing areas. We selected 32 children (19 males), aged eight to 15 years, divided into three groups: Group I comprised 11 children with language-learning impairment and bilateral perisylvian polymicrogyria, Group II comprised 10 children with language-learning impairment and normal MRI, and Group III comprised 11 normal children. Behavioral auditory tests, such as the Random Gap Detection Test and Digits Dichotic Test were performed. Statistical analysis was performed using the Kruskal-Wallis test and Mann-Whitney test, with a level of significance of 0.05. The results revealed a statistically significant difference among the groups. Our data showed abnormalities in auditory processing of children in Groups I and II when compared with the control group, with children in Group I being more affected than children in Group II. Our data showed that the presence of a cortical malformation correlates with a worse performance in some tasks of auditory processing function.

Temporal auditory processing: correlation with developmental dyslexia and cortical malformation.

BACKGROUND: Temporal auditory processing and developmental dyslexia. AIM: To characterize the temporal auditory processing in children with developmental dyslexia and to correlate findings with cortical malformations. METHOD: Twenty school-aged children, ranging in age from 8 to 14 years were evaluated. These children were divided into two groups: the experimental group (EG) was composed by 11 children (eight were male) with developmental dyslexia and the control group (CG) was composed by nine normal children (six were male). After neurological assessment and verification of the intellectual level, language, reading and writing skills in order to determine the diagnosis, children underwent a peripheral audiological evaluation and Random Gap Detection Test and/or Random Gap Detection Test Expanded. RESULTS: A statistically significant difference between children in the EG and CG were observed, with children in the EG presenting worst performances. Most of the children in the EG presented perisylvian polymicrogyria. CONCLUSION: Children with developmental dyslexia may present temporal auditory processing disorders with deficits in phonological processing. Cortical malformations may be the anatomical substrate of these disorders.

School performance and praxis assessment in children with Rolandic Epilepsy.

BACKGROUND: Rolandic Epilepsy is the most common form of childhood epilepsy. It is classified as idiopathic, age-related epileptic syndrome with benign evolution. The absence of neuropsychological impairment is part of the criteria of benignity of this epilepsy syndrome. Recently, however, several deficits related to attention and language have been suggested. AIM: to assess school performance and to investigate praxis problems in patients with rolandic epilepsy in comparison to a control group of normal children, paired by age, gender and educational level. METHOD: nineteen patients aged between 7 and 12 years underwent clinical neurological evaluation, psychological assessment, through the Weschsler Scales of Intelligence, and language evaluation, to assess the academic performance and to investigate the presence or absence of praxis difficulties. RESULT: the obtained data indicate that although intellectual efficiency (measured through the Intelligence Quatient - IQ) was within average, children with rolandic epilepsy presented a significantly poorer performance when compared to the control group in tests involving writing, arithmetic and reading. Another important aspect was the absence of orofacial apraxia in children with epilepsy. CONCLUSION: the results of the study suggest that the assessment of children with epilepsy is necessary to investigate specific deficits that require appropriate professional assistance. Regarding the presence of oral language and/or writing disorders in these children, academic, social and emotional deficits can be avoided. The prognosis of epileptic syndrome does not exclusively depend on the control of the crises, since social or cultural problems can interfere in life quality as much as the crisis.

Auditory processing disorder in perisylvian syndrome.

We hypothesized that the processing of auditory information by the perisylvian polymicrogyric cortex may be different from the normal cortex. To characterize the auditory processing in bilateral perisylvian syndrome, we examined ten patients with perisylvian polymicrogyria (Group I) and seven control children (Group II). Group I was composed by four children with bilateral perisylvian polymicrogyria and six children with bilateral posterior perisylvian polymicrogyria. The evaluation included neurological and neuroimaging investigation, intellectual quotient and audiological assessment (audiometry and behavior auditory tests). The results revealed a statistically significant difference between the groups in the behavioral auditory tests, such as, digits dichotic test, nonverbal dichotic test (specifically in right attention), and random gap detection/random gap detection expanded tests. Our data showed abnormalities in the auditory processing of children with perisylvian polymicrogyria, suggesting that perisylvian polymicrogyric cortex is functionally abnormal. We also found a correlation between the severity of our auditory findings and the extent of the cortical abnormality.

Twin-twin transfusion syndrome: neurodevelopmental screening test / Síndrome de transfusão feto-fetal: teste de triagem do desenvolvimento neurológico

Objective To assess the neurodevelopmental functions (cognition, language and motor function) of survivors of twin-twin transfusion syndrome (TTTS). Method Observational cross-sectional study of a total of 67 monochorionic diamniotic twins who underwent fetoscopic laser coagulation (FLC) for treatment of TTTS. The study was conducted at the Center for Investigation in Pediatrics (CIPED), Universidade Estadual de Campinas. Ages ranged from one month and four days to two years four months. Bayley Scales of Infant and Toddler Development Screening Test-III, were used for evaluation. Results Most children reached the competent category and were classified as having appropriate performance. The preterm children scored worse than term infants for gross motor subtest (p = 0.036). Conclusion The majority of children reached the expected development according to their age. Despite the good neurodevelopment, children classified at risk should be monitored for development throughout childhood. .

Objetivo Avaliar as funções do desenvolvimento neurológico (cognição, linguagem e motricidade) de sobreviventes da síndrome de transfusão feto-fetal (STFF). Método Estudo transversal observacional, total de 67 gêmeos diamnióticos monocoriônicos submetidos à coagulação a laser por fetoscopia para o tratamento da STFF. O estudo foi realizado no Centro de Investigação em Pediatria (CIPED), Universidade Estadual de Campinas. A idade variou entre um mês e quatro dias a dois anos e quatro meses. Foram utilizadas as Bayley Scales of Infant and Toddler Development Screening Test-III para avaliação. Resultados A maioria das crianças atingiu a categoria competente e foi classificada como tendo desempenho adequado. As crianças prematuras obtiveram desempenho inferior quando comparadas às nascidas a termo no subteste motor global (p = 0,036). Conclusão A maioria das crianças alcançou o desenvolvimento esperado de acordo para idade. Apesar do bom desenvolvimento neurológico, crianças classificadas na categoria de risco devem ser monitoradas para o desenvolvimento, durante a infância. .

Use of risperidone in children with epilepsy.

OBJECTIVE: Although the atypical antipsychotic medications appear to be safe in patients with epilepsy, few studies have specifically addressed the use of risperidone in children with seizures. The objective of this study was to evaluate behavior improvement and seizure outcome in children with epilepsy and behavioral disorders (self-injurious, aggressive, or destructive behavior) after introduction of risperidone. METHODS: In this prospective study, 54 patients were evaluated, 38 boys and 16 girls, aged 2-18 (mean=10). The dose of risperidone ranged from 0.01 to 0.14 mg/kg/day (mean=0.038 mg/kg/day). Risperidone was introduced gradually. The titration rate was determined by clinical response. The data were collected from patients' follow-up visits and clinical files. Exacerbation of seizures was established as an increase in seizure frequency after introduction of risperidone, with return to baseline seizure frequency after risperidone withdrawal. RESULTS: Seizure frequency was not affected by risperidone in 51 patients (94.5%). Only two (4%) patients experienced seizure exacerbation after the introduction of risperidone. In one patient, the effect of risperidone on seizure control could not be established. After introduction of the risperidone, 38 (70.4%) patients manifested improvement in behavior. CONCLUSION: Our data suggest that risperidone can be used in pediatric patients with epilepsy and that seizure outcome is not changed in most children with epilepsy and psychiatric comorbidity. In addition, behavior improvement is usually achieved in most patients.

Self-esteem, social support perception and seizure controllability perception in adolescents with epilepsy / Autoestima, percepção de suporte social e percepção de controlabilidade de crises em adolescentes com epilepsia

OBJECTIVE: Compare the self-esteem of adolescents with epilepsy and adolescents without epilepsy and relate it to social support and seizure controllability perception. METHOD: The study sample consisted: case participants (34 subjects) attending the pediatric epilepsy clinic of University Hospital and control participants (30 subjects) from public schools in Campinas-SP. The instruments utilized were: identification card with demographic and epilepsy data, a semi-structured interview on aspects of the disease, and a Self-Esteem Multidimensional Scale. RESULTS: There was no significant difference between the two groups but majority of adolescents with epilepsy presented higher self esteem rate, have knowledge about epilepsy, presented high levels of social support and seizure controllability perception. There was no significant relationship between social support and seizure controllability perception with self-esteem. CONCLUSION: Knowledge about epilepsy, social support such good controllability seizure perception seem are important contingencies for a better evaluation of self esteem in adolescents with epilepsy.

OBJETIVO: Comparar a autoestima de adolescentes com epilepsia e adolescentes sem epilepsia e relacioná-la com percepção de suporte social e controlabilidade de crises. MÉTODO: A amostra do estudo consiste: grupo caso (34 sujeitos) atendidos no ambulatório de epilepsia infantil do Hospital Universitário e grupo controle (30 indivíduos) de escolas públicas de Campinas-SP. Os instrumentos utilizados foram: cartão de identificação com dados demográficos e de epilepsia, entrevista semiestruturada sobre os aspectos da doença e Escala Multidimensional de autoestima. RESULTADOS: Não houve diferença significativa entre os dois grupos, mas a maioria dos adolescentes com epilepsia apresentou maior pontuação de autoestima, conhecimento sobre epilepsia, altos níveis de suporte social e percepção de controlabilidade das crises. Não houve relação significativa entre suporte social e percepção de controlabilidade das crises com a autoestima. CONCLUSÃO: Conhecimento sobre a epilepsia, percepção de apoio social assim como boa controlabilidade de crises parecem ser contingências importantes para uma melhor avaliação da autoestima em adolescentes com epilepsia.

Voxel-based morphometry reveals excess gray matter concentration in patients with focal cortical dysplasia.

PURPOSE: Many patients with focal cortical dysplasia (FCD) continue to have seizures after surgical treatment. The usual explanation for the poor surgical outcome is the presence of residual dysplastic tissue missed by the preoperative neuroimaging investigation and therefore not resected during surgery. We apply a voxel-based morphometry (VBM) analysis to the magnetic resonance imaging (MRI) scans from patients with epilepsy and visually detected FCD to investigate whether (a) VBM is able to detect gray-matter concentration (GMC) abnormalities in patients with FCD, and (b) whether the extent of GMC abnormalities in the brain of these patients differs from the regions observed by using visual inspection. METHODS: We studied 11 patients with visually detected FCD (eight of them with histologic confirmation of FCD). The GMC from each one of these patients was compared with the mean GMC from a control group of 96 normal healthy subjects by using an optimized VBM protocol. RESULTS: Ten of 11 patients showed statistically significant GMC excess, and among patients with GMC excess, only one showed GMC excess that was not exactly correspondent to the visually detected FCD. Seven patients exhibited excess in GMC extending beyond the area of visually detected FCD. CONCLUSIONS: This preliminary neuroimaging study suggests that (a) VBM can detect GMC excess in patients with FCD, and (b) GMC excess in these patients can extend to brain areas not visually defined as abnormal. Abnormal areas detected by VBM can possibly correspond to mild malformations of cortical development, supporting the notion that the surgical refractoriness observed in patients with FCD can be due to the incomplete resection of the dysplastic tissue.