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1.
Epilepsy Behav ; 102: 106673, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31770716

RESUMO

BACKGROUND: This prospective study aimed to evaluate long-term neurodevelopmental outcomes and risk factors of the previously reported cohort, at their school age. METHOD: We included neonates whose seizures were directly observed by the child neurologist or neonatologist based on clinical observations. They were assessed for cognitive and neurological outcomes at the age of 9-11 years. The test battery included a neurological examination, the Wechsler Intelligence Scale for Children-Revised (WISC-R) test, and patients with the diagnosis of cerebral palsy (CP) were graded according to the Gross Motor Function Classification System (GMFCS). The primary outcome of this study was to determine risk factors for the long-term prognosis of neonatal seizures. RESULTS: For the long-term follow-up, 97 out of 112 patients of the initial cohort were available (86.6%). We found that 40 patients (41%) have the normal prognosis, 22 patients (22.7%) have the diagnosis of CP, and 30 patients (30.9%) were diagnosed as having epilepsy. Twelve out of 22 patients with CP had the diagnosis of epilepsy. The WISC-R full-scale IQ scores were <55 points in 27 patients (27.8%) and were >85 points in 40 patients (41.2%). According to GMFCS, 10 patients were classified as levels 1-2, and 12 patients were classified as levels 3-5. In multivariate regression analyses, 5-min APGAR score <6 was found to be an independent risk factor for CP, and 5-min APGAR score <6 and neonatal status epilepticus were independent risk factors for epilepsy. CONCLUSIONS: This prospective cohort study reveals that abnormal school age outcome after neonatal seizures are significantly related to 5-min APGAR score <6 and neonatal status epilepticus.


Assuntos
Doenças do Recém-Nascido/psicologia , Exame Neurológico/normas , Estado Epiléptico/psicologia , Estudantes/psicologia , Escalas de Wechsler/normas , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/fisiopatologia , Masculino , Exame Neurológico/métodos , Prognóstico , Estudos Prospectivos , Fatores de Risco , Estado Epiléptico/diagnóstico , Estado Epiléptico/fisiopatologia
2.
Pediatr Int ; 61(2): 166-174, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30449056

RESUMO

BACKGROUND: The aim of this study was to retrospectively assess short-term neurological outcomes in pediatric stroke with regard to patient characteristics. METHODS: Children aged 28 days-18 years with arterial ischemic stroke (AIS), cerebral sinovenous thrombosis (CSVT), and hemorrhagic stroke (HS) between 2007 and 2013 were evaluated. Neurological findings in the first 3 months were accepted as short-term prognosis, and modified Rankin scale was used. RESULTS: A total of 33 patients (62%) with AIS, 12 (23%) with HS, and eight (15%) with CSVT were included. Moya moya syndrome was the most common new diagnosis in AIS. Stroke recurred in five (15%); and one AIS patient with posterior circulation infarct died (3%). Prognosis in AIS was favorable for 20 patients (61%) and poor for 13 patients (39%). Forty-two percent of HS were of vascular origin. Seven patients (70%) with HS had good prognosis and three (30%) had poor prognosis with no death. Homocysteine-related hypercoagulability was most frequently noted in the etiology of CSVT. Synchronous systemic thrombosis was observed in three CSVT patients (37.5%) and death occurred in two (25%). Prognosis was evaluated as favorable for three CSVT patients (37.5%) and poor for five (62.5%). For thrombophilia, thrombosis panel was performed fully in 83% of AIS and CSVT patients. CONCLUSIONS: Pediatric stroke is associated with a poor prognosis in a substantial number of patients in the short term, with CSVT having the worst prognosis. Detailed patient characteristics are listed not only for ischemic but also for hemorrhagic stroke; and a full thrombosis panel was achieved for most ischemic stroke patients.


Assuntos
Acidente Vascular Cerebral/diagnóstico , Adolescente , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/mortalidade , Isquemia Encefálica/terapia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/mortalidade , Hemorragias Intracranianas/terapia , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/mortalidade , Acidente Vascular Cerebral/terapia , Turquia/epidemiologia
3.
J Obstet Gynaecol Res ; 45(8): 1472-1478, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31155818

RESUMO

AIM: We evaluated the ability of fetal neurosonography and magnetic resonance imaging (MRI) to asses callosal anomalies (CA) and associated cranial malformations. We also aimed to determine the long-term prognosis of the cases. METHODS: Thirty-six cases of CA diagnosed combined with neurosonography and MRI between January 2012 and October 2017 were retrospectively reviewed. RESULTS: Seventeen of 36 fetuses were diagnosed complete agenesis of corpus callosum (CACC) (47.2%), 9 had partial agenesis of corpus callosum (PACC) (25%) and 10 was dysgenesis of the corpus callosum (DCC) (27.2%) at ultrasonography (US) examination. Fetal MRI reported 16 of cases as CACC (44.4%), 11 PACC (30.5%) and nine (25%) DCC. The overall consistency between neurosonography and MRI in the definition of CA were 91% of cases. Sulcation anomalies were present in 9 cases in the US (25%) and 11 cases in MRI (30.4%). Seven of cases showed posterior fossa abnormalities in the US (19.4%) and eight cases in MRI (22.1%). Neonatal MRI added new findings to fetal MRI and neurosonography including grade-1 intraventricular hemorrhage and periventricular leukomalacia in two cases (12.5%). Eighteen cases were terminated (50%), 17 cases were followed up and mean follow up interval was 39 ± 5.1 months. The neurologic outcome was abnormal in seven (41.7%) patients. Presence of associated brain anomalies worsened the prognosis. CONCLUSION: Fetal neurosonography has a comparable performance with MRI in the diagnosis of CA and associated anomalies. It should be used in collaboration with MRI to achieve accurate diagnosis which is crucial for counseling.


Assuntos
Agenesia do Corpo Caloso/diagnóstico por imagem , Fossa Craniana Posterior/diagnóstico por imagem , Imageamento por Ressonância Magnética/normas , Ultrassonografia Pré-Natal/normas , Adulto , Fossa Craniana Posterior/anormalidades , Feminino , Seguimentos , Humanos , Gravidez , Prognóstico , Estudos Retrospectivos
4.
Minerva Pediatr ; 69(3): 194-199, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26041000

RESUMO

BACKGROUND: The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FSs) in a tertiary center in Turkey. METHODS: A retrospective study of 632 children with FS was conducted from January 1995 to January 2002 in the pediatric neurology and general pediatrics departments of Istanbul University, Istanbul Medical School. Patients data was collected and eligible patients were included in the study. RESULTS: There were 386 male (61.1%) and 246 female (38.9%) patients, with a male-to-female ratio of 1.57. Twenty six (4.1%) patients had prenatal, 104 (16.5%) patients had perinatal-neonatal problems. Age at first seizure was 3-72 months with an average of 20.1 months. While 193 patients (30%) were admitted with two seizures, 246 (39%) were admitted with three or more. Out of 632 patients, 501 (79.2%) had recurrences. In an average of 5.8 years (4-8.8), 30 out of 632 patients (4.7%) were diagnosed with epilepsy. First degree relative with FS, age at first FS less than 18 months, height of peak temperature (<38.5 °C), less than 1 or 3 hours between onset of fever and seizure, complex first seizure, complex FS were all related to febrile seizure recurrence in a statistically significant way. Some risk factors for subsequent epilepsy development included complex FS and less than one hour of fever before FS. No patient with FS had died. CONCLUSIONS: Complex FS and less than 1 hour of fever before FS are common risk factors for both epilepsy and FS recurrence.


Assuntos
Epilepsia/epidemiologia , Saúde da Família , Convulsões Febris/epidemiologia , Idade de Início , Criança , Pré-Escolar , Epilepsia/etiologia , Feminino , Humanos , Lactente , Masculino , Prognóstico , Recidiva , Estudos Retrospectivos , Fatores de Risco , Convulsões Febris/complicações , Centros de Atenção Terciária , Fatores de Tempo , Turquia
5.
Nature ; 467(7312): 207-10, 2010 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-20729831

RESUMO

The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging.


Assuntos
Encefalopatias/genética , Encéfalo/anormalidades , Análise Mutacional de DNA/métodos , Proteínas do Tecido Nervoso/genética , Animais , Sequência de Bases , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologia , Encefalopatias/patologia , Proteínas de Ciclo Celular , Feminino , Genes Recessivos , Humanos , Masculino , Camundongos , Microcefalia/genética , Microcefalia/patologia , Dados de Sequência Molecular , Mutação , Proteínas do Tecido Nervoso/metabolismo , Linhagem
6.
J Med Virol ; 87(11): 1831-8, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25966820

RESUMO

Human bocavirus (HBOV) has been reported as a worldwide distributed respiratory pathogen. It has also been associated with encephalitis recently by detection of the virus in cerebrospinal fluid (CSF) of patients presented with encephalitis. This retrospective study aimed to present clinical features of HBOV infections in children with respiratory symptoms and describe unexplained encephalopathy in a subgroup of these patients. Results of 1,143 pediatric nasal samples from mid-December 2013 to July 2014 were reviewed for detection of HBOV. A multiplex real time polymerase chain reaction assay was used for viral detection. Medical records of the patients were retrospectively analyzed. HBOV was detected in 30 patients (2.6%). Median age was 14 months (5-80). Clinical diagnoses were upper respiratory tract infection (n = 10), bronchopneumonia (n = 9), acute bronchiolitis (n = 5), pneumonia (n = 4), acute bronchitis (n = 1), and asthma execarbation (n = 1). Hospitalization was required in 16 (53.3%) patients and 10 (62.5%) of them admitted to pediatric intensive care unit (PICU). Noninvasive mechanical ventilation modalities was applied to four patients and mechanical ventilation to four patients. Intractable seizures developed in four patients while mechanically ventilated on the 2nd-3rd days of PICU admission. No specific reason for encephalopathy was found after a thorough investigation. No mortality was observed, but two patients were discharged with neurological sequela. HBOV may lead to respiratory infections in a wide spectrum of severity. This report indicates its potential to cause severe respiratory infections requiring PICU admission and highlights possible clinical association of HBOV and encephalopathy, which developed during severe respiratory infection.


Assuntos
Encefalopatias/etiologia , Encefalopatias/patologia , Bocavirus Humano/isolamento & purificação , Infecções por Parvoviridae/patologia , Infecções Respiratórias/complicações , Infecções Respiratórias/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Reação em Cadeia da Polimerase Multiplex , Cavidade Nasal/virologia , Reação em Cadeia da Polimerase em Tempo Real , Estudos Retrospectivos
7.
Epilepsy Res ; 205: 107399, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39003968

RESUMO

OBJECTIVES: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT). METHODS: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers. RESULTS: In this study, 93.3 % of patients were female, with typical RTT found in 70 % of cases. Genetic etiology revealed MECP2, FoxG1, and CDKL5 in 93.8 %, 2.7 %, and 1.8 % of cases, respectively. Atypical RTT clinics were observed in 50 % of male cases, with the first EEG being normal in atypical RTT cases (p = 0.01). Generalized tonic-clonic and myoclonic epilepsy were the most common seizure semiologies, while absence and focal epilepsy were less prevalent. Valproate, levetiracetam, lamotrigine, and clobazam were the most commonly used antiepileptic drugs, affecting the severity and frequency of seizures (p = 0.015, p=<0.001, p = 0.022, and p=<0.001, respectively). No significant differences were observed in EEG findings. The initiation of anti-seizure medications significantly altered seizure characteristics (Table 4). A ketogenic diet and vagal nerve stimulation (VNS) correlated with a 50 % improvement in cognitive function, while steroid treatment showed a 60 % improvement. Remarkably, seizures were substantially reduced after VNS application. CONCLUSION: This study underscores the importance of genetic diagnosis in RTT cases with a clinical diagnosis. These preliminary results will be further validated with the inclusion of clinically diagnosed RTT cases in our ongoing study.


Assuntos
Anticonvulsivantes , Eletroencefalografia , Imageamento por Ressonância Magnética , Proteína 2 de Ligação a Metil-CpG , Síndrome de Rett , Convulsões , Humanos , Síndrome de Rett/genética , Síndrome de Rett/fisiopatologia , Feminino , Masculino , Estudos Retrospectivos , Eletroencefalografia/métodos , Criança , Imageamento por Ressonância Magnética/métodos , Pré-Escolar , Convulsões/genética , Convulsões/fisiopatologia , Anticonvulsivantes/uso terapêutico , Adolescente , Proteína 2 de Ligação a Metil-CpG/genética , Lactente , Mutação/genética , Proteínas do Tecido Nervoso/genética , Fatores de Transcrição Forkhead/genética , Proteínas Serina-Treonina Quinases
8.
Neuropediatrics ; 44(5): 252-6, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23771848

RESUMO

OBJECTIVE: The studies about autonomic nervous system (ANS) disorders in adult migraineurs show conflicting results with limited data on ANS function in childhood and adolescence. This study aimed to investigate ANS function in childhood migraine. PATIENTS AND METHODS: The migraine and control groups consisted of 35 migraineurs and 30 healthy children, respectively. In both groups, heart rate interval variation (RRIV) and sympathetic skin response (SSR) were used as noninvasive ANS function tests. RESULTS: No significant differences in age and gender distribution were found between the study and control groups. A family history of migraine was seen in 65% patients in the study group and 20% in the control group. The duration, quality, frequency, and location of pain were variable; only 14.1% of the patients had sensory and visual aural symptoms. There was neither a significant difference in RRIV and SSR between migraine and control groups (p > 0.05) nor in heart rate responses to deep breathing (p = 0.83). The mean amplitude of SSR in children with migraine was smaller than that in the control group, but it did not reach a level of statistical significance. CONCLUSIONS: In children with migraine, our results demonstrate no abnormal ANS function related to either the sympathetic or the parasympathetic nervous system.


Assuntos
Doenças do Sistema Nervoso Autônomo/complicações , Frequência Cardíaca/fisiologia , Transtornos de Enxaqueca/diagnóstico , Adolescente , Sistema Nervoso Autônomo/fisiopatologia , Criança , Feminino , Resposta Galvânica da Pele/fisiologia , Humanos , Masculino , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/fisiopatologia , Tempo de Reação/fisiologia
9.
Int J Dev Disabil ; 69(2): 179-189, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37025343

RESUMO

Autism spectrum disorder (ASD) is an etiologically heterogeneous neurodevelopmental condition that eludes a single explanation or cure. Epidemiological studies reveal risk factors, relevant comorbidities, and behavioral correlates to reach a better understanding of ASD. To contribute such data from an understudied ASD population, this paper presents epidemiological data from a Turkish sample of individuals with ASD (n = 911, 748 boys (82.1%) and 163 girls (17.9%) between 1 and 18 years of age). Average age at diagnosis was 31.06 ± 11.88 months, and the male-to-female ratio was 4.6:1. Three in 4 individuals with ASD had obsessive behaviors, and 1 in 4 had allergic conditions, inappropriate sexual behaviors, self-harming behaviors, and harmful behaviors towards others. One in 3 received a dietary treatment for at least 3 months; almost half received vitamin supplements; the majority (70%) did not experience constipation; and 2 in 3 were picky eaters. This paper presents data on the age of diagnosis, gender ratios, accompanying behaviors, and dietary interventions in Turkish individuals with ASD, which are topics of current research interest about ASD. Such data from non-Western populations may supplement epidemiological knowledge gained from Western populations to help reach a more comprehensive understanding of this condition with many unknowns.

10.
Eur J Pediatr ; 171(3): 549-52, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22016262

RESUMO

UNLABELLED: The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30-726 days). The average patient age at diagnosis was 129 days (33-297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan (p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan (p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average (p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis. CONCLUSION: A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients.


Assuntos
Atrofias Musculares Espinais da Infância/epidemiologia , Feminino , Aconselhamento Genético , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/genética , Atrofias Musculares Espinais da Infância/terapia , Turquia/epidemiologia
11.
J Paediatr Child Health ; 48(7): 610-6, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22404693

RESUMO

AIM: We evaluated ambulatory patients with Duchenne muscular dystrophy from the cardiovascular standpoint and studied the correlation between the results of electrocardiographic (ECG) findings, left ventricular ejection fraction (LVEF), troponin T and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels and patients' North Star Ambulatory Assessment scores. METHODS: Fifty patients of ages 6-12 (8.9 ± 2.8) were enrolled in this cross-sectional study. Cardiac evaluation included electrocardiography, echocardiography and cardiac enzyme tests. RESULTS: North Star scores ranged from 6/34 to 34/34. Twenty-eight patients (56%) had ECG changes. The most frequently seen ECG abnormalities were short PR interval (14%, n= 7), right ventricular hypertrophy (16%, n= 8), prolonged QTc interval (10%, n= 5), prominent Q wave (10%, n= 5) and T wave inversion (44%, n= 22). In 10 patients (20%), LVEF was below 55%, troponin T and NT-proBNP levels were significantly elevated (P= 0.003 and P < 0.001, respectively). When North Star scores were compared to patients' age, enzyme levels, ECG and echocardiographic results, we discovered negative correlation with age (P < 0.001) and troponin T levels (P= 0.02) and positive correlation with LVEF (P= 0.02). CONCLUSION: Patients with North Star scores of ≤16 are more at risk of developing cardiomyopathies. Troponin T is a cardiac index that can be used for evaluating myopathic patients and it seems to be correlated with the proBNP levels and LVEF values.


Assuntos
Arritmias Cardíacas/diagnóstico , Cardiomiopatias/etiologia , Distrofia Muscular de Duchenne/complicações , Arritmias Cardíacas/etiologia , Cardiomiopatias/diagnóstico , Criança , Estudos Transversais , Ecocardiografia , Eletrocardiografia , Humanos , Masculino , Distrofia Muscular de Duchenne/fisiopatologia , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Índice de Gravidade de Doença , Volume Sistólico , Troponina T/sangue
12.
Int J Neurosci ; 122(2): 69-73, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21958330

RESUMO

The aim of this study was to evaluate the thyroid function alterations in a group of epileptic children taking antiepileptic drugs (AEDs). Patients demographic data and the free throxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of the treatment and at the third, sixth and ninth months of AED treatment were recorded retrospectively. A total of 106 children, 59 males and 47 females, were enrolled in the study. Mean patient age was 3.7 years, ranging between 3 months and 14 years. In total, 54% of patients were on valproic acid (VPA), 16% phenobarbital (PB), 14% were on carbamazepine (CBZ), 6% were on oxcarbazepine (OXC), 5% were on levetiracetam, and 5% were on topiramate therapy. There were no significant differences in average fT4 values between the drug groups. But the mean fT4 levels of the patients on VPA therapy showed a clear decrease within the observation period. No significant difference in average TSH values between the groups was detected in the beginning and in the third and sixth month. However, in the ninth month, a significant increase in TSH values was found in the VPA group (p = 0.007). In the patients taking VPA, average TSH values rose progressively while staying within normal limits. During follow-up, thyroid dysfunction were found in 21 patients (19.6%). A statistically significant relationship was found between severe electroencephalography (EEG) findings and thyroid dysfunction (p = 0.041). It was concluded that epileptic children with severe EEG findings and using VPA could have thyroid dysfunction. These patients should be followed up closely by thyroid function tests during treatment.


Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/sangue , Tireotropina/sangue , Tiroxina/sangue , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Eletroencefalografia/métodos , Eletroencefalografia/estatística & dados numéricos , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Feminino , Seguimentos , Humanos , Lactente , Irã (Geográfico) , Masculino , Estudos Retrospectivos , Doenças da Glândula Tireoide/induzido quimicamente , Doenças da Glândula Tireoide/complicações , Doenças da Glândula Tireoide/metabolismo , Testes de Função Tireóidea/métodos , Testes de Função Tireóidea/estatística & dados numéricos
13.
J Craniofac Surg ; 23(3): 738-41, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22565904

RESUMO

Drooling complicates many neurologic disorders including cerebral palsy. It is socially debilitating for the patient and very tedious for the caregiver. Surgical treatment consists mainly of ablative (excision/ligation) or physiological (diversion) methods; combined techniques have also been proposed. We have applied bilateral diversion of both submandibular and parotid ducts in 12 cerebral palsy patients (age range, 7-15 years). Preoperative drooling severity was grade 4/5 in 10 cases and grade 5/5 in 2 of the cases. All patients underwent physiotherapy for a minimum of 6 months and were consulted with a dentist, otolaryngologist, and a speech therapist before surgery. No bleeding, hematoma, or infection has been observed in any of the patients. Two patients had early postoperative tongue edema that regressed with conservative treatment. All patients except one regressed to grade 2/5 drooling by the first postoperative month. In 1 patient who had previously been classified as grade 5/5, surgery provided limited improvement with only 1 grade of step-down. Satisfactory results for the patients and their families could be achieved and sustained for a median 18 months (7-20 months) of follow-up. In conclusion, the quadruple duct diversion method is an effective physiological surgical method in the control of drooling in cerebral palsy.


Assuntos
Paralisia Cerebral/complicações , Ductos Salivares/cirurgia , Sialorreia/etiologia , Sialorreia/cirurgia , Adolescente , Criança , Feminino , Humanos , Masculino , Resultado do Tratamento
14.
Turk J Pediatr ; 54(5): 458-64, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23427507

RESUMO

The objective of this study was to assess low-risk very low birth weight (VLBW) children, before the era of modern neonatal intensive care in Turkey, during adolescence. Forty-one VLBW adolescents were compared with 40 adolescents who had normal birth weight. The physical and neuromotor development, educational achievement and psychosocial status were assessed at a mean age of 17 +/- 1.6 years. VLBW adolescents were shorter than normal birth weight adolescents (p = 0.01). A major neurological abnormality (cerebral palsy) was seen in 12% and a minor neurological abnormality (tremor, coordination, behavioral and speech disorders) in 17%. VLBW adolescents had higher rates of visual problems (56% vs. 5%). School failure was present in 27%. There were no differences in behavioral problems or quality of life between the two groups, but VLBW adolescents did have a lower self-esteem score. Neurodevelopment and growth sequelae were a significant problem in VLBW adolescents. As early intervention might help to prevent or ameliorate potential problems, long-term follow-up is essential.


Assuntos
Paralisia Cerebral/epidemiologia , Recém-Nascido Pequeno para a Idade Gestacional , Terapia Intensiva Neonatal , Transtornos Mentais/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Masculino , Morbidade/tendências , Estudos Retrospectivos , Turquia/epidemiologia , Adulto Jovem
15.
Epilepsia ; 52(5): 975-83, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21320115

RESUMO

PURPOSE: To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing eight genes with expressions in the brain was targeted in a case-control association study involving 205 Turkish patients with AE and 219 controls. METHODS: Haplotype block and case-control association analysis was carried out using HAPLOVIEW 4.0 and inhibin alpha subunit (INHA) gene analysis by DNA sequencing. KEY FINDINGS: An association was found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (JAE) syndrome and patients having generalized tonic-clonic seizures (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons). DNA sequence analysis of the INHA gene in 110 JAE/GTCS patients revealed three point mutations with possible damaging effects on inhibin function in three patients and the presence of a common ACTC haplotype (H1) with a possible dominant protective role conferred by the T allele of rs7588807 with respective p-values of 0.0005 and 0.0014. SIGNIFICANCE: The preceding findings suggest that INHA could be a novel candidate susceptibility gene involved in the pathogenesis of JAE or AE associated with GTCS.


Assuntos
Epilepsia Tipo Ausência/genética , Epilepsia Tônico-Clônica/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Haplótipos/genética , Inibinas/genética , Convulsões/genética , Animais , Estudos de Casos e Controles , Cromossomos Humanos Par 2/genética , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único/genética , Ratos
16.
J Paediatr Child Health ; 47(10): 734-6, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21449903

RESUMO

AIM: To define clinical features of patients with alternating hemiplegia of childhood. METHODS: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty. RESULTS: The nine patients had a mean age of 6.6 months (2-15 months) at the onset of symptoms. Paroxysmal eye movements were the early symptom of five patients. All patients had recurrent alternating hemiplegic episodes and relief of symptoms while sleeping. Duration of events varied widely from few minutes to several days and was associated with slowly progressive neurological deterioration. Flunarizine might decrease frequency of events but is not effective to neurological deterioration. Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy. CONCLUSION: Trials on new agents like amantadine are necessary for more effective control of the disease.


Assuntos
Hemiplegia/fisiopatologia , Amantadina/uso terapêutico , Anticonvulsivantes/uso terapêutico , Antiparkinsonianos/uso terapêutico , Feminino , Flunarizina/uso terapêutico , Hemiplegia/tratamento farmacológico , Humanos , Lactente , Masculino , Auditoria Médica , Estudos Retrospectivos , Resultado do Tratamento , Turquia
17.
Acta Neurol Belg ; 111(4): 325-7, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22368974

RESUMO

A 10-year-old male presented with vision loss and behavioral changes. He had midpoint pupils with no reaction to light and normal funduscopic examination. Cranial magnetic resonance imaging revealed bilateral cortical lesions at parieto-occipital lobes. Elevated measles antibody titers in the cerebrospinal fluid confirmed the diagnosis of subacute sclerosing panencephalitis. Despite oral inosiplex and supportive care, patient developed generalized seizures with frequent myoclonic jerks and rapidly progressed into coma. Cortical blindness in subacute sclerosing panencephalitis can be an early indicator for fulminant course.


Assuntos
Cegueira Cortical/etiologia , Panencefalite Esclerosante Subaguda/complicações , Cegueira Cortical/diagnóstico por imagem , Criança , Progressão da Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Panencefalite Esclerosante Subaguda/diagnóstico por imagem , Tomografia Computadorizada por Raios X
18.
J Taibah Univ Med Sci ; 16(3): 413-421, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34140869

RESUMO

OBJECTIVES: Obesity is common among children with Autism Spectrum Disorder (ASD). They suffer more feeding problems than children with normal developmental milestones. Several kinds of diet are recommended for children with ASD. This study determines the frequency of eating disorders and obesity among such children. We investigate the predisposing factors of eating disorders and examine the effects of consumed food on autism scores. METHODS: In this single-centre, cross-sectional study, 46 children with ASD aged between 2 and 10 years were included. Anthropometric measurements were recorded and Brief Autism Mealtime Behavior Inventory (BAMBI), Autism Behavior Checklist (ABC), and Food Frequency Questionnaire (FFQ) forms were filled in by their parents. RESULTS: The rates of being overweight and obese were 10.9% and 28.3%, respectively. Food selectivity was observed in 84.8% of the children, and BAMBI food refusal scores were significantly higher for those aged between 2 and 5 years (p = 0.03). Autism scores and consumption of milk, yoghurt, oily seeds, rice/pasta, and fruits (p < 0.05) were significantly correlated. There were also significant differences between these scores and the frequency of consuming eggs, legumes, and other cereals (p < 0.05). CONCLUSION: Obesity was more common in children with ASD than typically developed children. Despite the high rate of food selectivity, our findings confirmed that food selectivity could be considered independent of obesity. Further, the diet of patients with ASD must include more fruits, yogurt, eggs, legumes, other cereals, less milk, and less rice/pasta.

19.
J Child Adolesc Psychiatr Nurs ; 34(4): 320-328, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34124815

RESUMO

PROBLEM: The aim of this study is to analyze the changes that NeuroPLAY, which is an intensive early intervention method for children with autism spectrum disorder (ASD) and ages of 12-42 months, has created in the play skills of the parents of children with ASD by using method strategies. METHODS: The study cohort includes 91 children ages ranging from 18 to 42 months old. The study is designed for repetitive measurements performed pre- and post-intervention. Within the scope of the study, children's ASD symptoms were evaluated with the Childhood Autism Rating Scale (CARS) and changes in the play skills of parents were evaluated using NeuroPLAY Parental Play Behavior Assessment Scale (NPPBAS). RESULTS: The NPPBAS score at the beginning of the intervention was 12.55; repeated measurements (46.22 after 3 months, 45.95 after 6 months, and 48.53 after 12 months) were observed to increase core. The older age of the parents in the intervention program is associated with lower final NPPBAS scores. However, it was determined that the CARS score, which is an indicator of the autism spectrum, will decrease after intervention regardless of the parents' age. CONCLUSION: The results showed that NeuroPLAY led to significant improvement in play behaviors of the parents.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Idoso , Transtorno do Espectro Autista/terapia , Criança , Pré-Escolar , Humanos , Lactente , Pais
20.
Turk J Pediatr ; 51(1): 72-5, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19378896

RESUMO

Varicella is largely a childhood disease, with more than 90% of cases occurring in children younger than 10 years. The primary infection is characterized by generalized vesicular dermal exanthemas, which are extremely contagious. Secondary bacterial infection and varicella pneumonia, usually seen in the immunocompromised or adult populations, may have high morbidity and mortality. Varicella in childhood is a generally benign and self-limited disorder; however, severe, life-threatening neurological complications may occur. We report a previously healthy eight-year-old boy who presented with acute hemiplegia and obsessive-compulsive disorder secondary to a lesion in lentiform nuclei associated with a history of recent varicella infection. The child was treated with sertraline for obsessive-compulsive disorder symptoms and made a full recovery.


Assuntos
Varicela/complicações , Transtorno Obsessivo-Compulsivo/etiologia , Vasculite do Sistema Nervoso Central/etiologia , Angiografia Digital , Criança , Hemiplegia/virologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtorno Obsessivo-Compulsivo/fisiopatologia
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