Journal of Pediatric Neurology - Volume 1, issue 2

Authors: Ozand, Pinar T. | Al-Odaib, Ali | Merza, Hania | Harbi, Saleh Al

Article Type: Other

Abstract: This is a review of autism spectrum disorders. It presents the symptoms of the disease discussing the age of diagnosis and first symptoms encountered. It is a polygenic disease that occurs mainly in boys. The importance of early diagnosis is emphasized. The assessment scales used for early diagnosis are discussed. The anatomic basis of the disease is detailed. The molecular genetic aspects, and the techniques employed are reviewed. Special emphasis is placed in chromosome abnormalities observed …in autism. Its incidence worldwide is increasing dramatically. This is considered to be due to epigenetic events. Several hypotheses for such epigenetic processes are discussed. Finally the state of intervention in autism and its paradigms are detailed. (J Pediatr Neurol 2003; 1(2): 55–67). Show more

Keywords: autism, clinical and genetic aspects of autism, intervention in autism

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 55-67, 2003

Authors: Gordon, Neil

Article Type: Research Article

Abstract: The symptoms associated with gelastic seizures are discussed, as well as their most frequent origin in hypothalamic hamartoma. Complications, especially cognitive and behaviour disorders, often occur, and causes for these are suggested. Sometimes the laughter is accompanied by feeling of mirth, and sometimes it is not, and this seems to depend on the parts of the cerebral cortex affected by the epileptic discharges. Precocious puberty often occurs in affected patients. Some of the possible causes for …this are considered, and findings which suggest the diagnosis. The pathology responsible for gelastic seizures can vary, but most commonly it is a developmental anomaly in the hypothalamic area, and rarely a neoplasm. Other structural lesions in the central nervous system may well occur. The differential diagnosis is considered, and the possibilities of treatment. Surgery should be considered at an early age, particularly if the seizures do not respond to medical treatment, as if successful the child's quality of life can be greatly improved. The decision on the type of operation to be used may best be made on an individual basis depending on the type and site of the lesion; and the risks involved. The development of stereotactic radiosurgery may be the best hope for the future. (J Pediatr Neurol 2003; 1(2): 69–73). Show more

Keywords: gelastic seizures, hypothalamic hamartoma, symptoms, diagnosis, treatment

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 69-73, 2003

Authors: Grotzer, Michael A.

Article Type: Research Article

Abstract: Central nervous system primitive neuroectodermal tumors (PNET) including cerebellar PNET (medulloblastoma, PNET/MB) are the most common malignant brain tumors in childhood. Because of the high risk of leptomeningeal dissemination, standard postoperative treatment for PNET includes craniospinal radiotherapy and chemotherapy. Such treatment causes long-term morbidity including endocrine and growth disturbances, as well as neurocognitive dysfunction, which is particularly severe in young children. Over the last years, neurotrophin receptor TrkC, neuregulin receptor ErbB2 and …oncogene MYC have been identified as biological prognostic factors in PNET/MB. High TrkC mRNA expression, low ErbB2 protein expression and low MYC mRNA expression are powerful independent predictors of favorable clinical outcome in PNET/MB. Upon validation in ongoing prospective biological studies, these biological factors may define risk groups and help direct therapy decisions for children with PNET/MB. In PNET with favorable biological factors and no evidence of leptomeningeal tumor dissemination, therapy with reduced craniospinal radiation might retain the efficacy but reduce the toxicity and therefore improve the quality of life for the survivors. (J Pediatr Neurol 2003; 1(2): 75–82). Show more

Keywords: primitive neuroectodermal tumor, brain neoplasms, medulloblastoma, prognosis, trkC, erbB-2, c-myc proto-oncogene

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 75-82, 2003

Authors: Chez, Michael G. | Buchanan, Thomas M. | Becker, Marina | Kessler, Jami | Aimonovitch, Mary C. | Mrazek, Susan R.

Article Type: Research Article

Abstract: Recent studies in autistic brain samples have shown diminished acetylcholine and nicotinic receptor activity. We hypothesized that acetylcholinergic enhancement may pharmacologically improve some autistic characteristics. Donepezil hydrochloride, an acetylcholinesterase inhibitor, was studied previously in two open label studies which showed improvement in the expressive and receptive speech and aberrant behaviors of autistic children. We therefore undertook a double-blind placebo controlled study to confirm these findings. Forty-three patients (35 males, 8 females, average …age 6.8 yrs., range 2.1–10.3 yrs), with diagnoses of Autistic Spectrum Disorders enrolled in a randomized six-week, doubleblind, placebo-controlled trial of donepezil hydrochloride, with an additional six weeks of open-label treatment. Change was evaluated by the Childhood Autistic Rating Scale, Gardner's Expressive One-Word Picture Vocabulary Test, Revised, and Gardner's Receptive One-Word Picture Vocabulary Test. Testing was administered at baseline, six-week, and twelveweek follow-up. Expressive and receptive speech gains, as well as decreases in severity of overall autistic behavior, were documented after 6-weeks for the treatment group. These improvements were statistically significant when compared to placebo, and were clinically meaningful as assessed over time. Donepezil hydrochloride appears to improve expressive and receptive language as well as overall autistic features, consistent with the hypothesis of acetylcholinergic enhancement. (J Pediatr Neurol 2003; 1(2): 83–88). Show more

Keywords: autism, autistic spectrum disorder, donepezil hydrochloride

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 83-88, 2003

Authors: Balasubramaniam, Chidambaram | Balasubramaniam, Venkataraman

Article Type: Research Article

Abstract: This report is based on the experience in the management of 17 children with neoplasms involving the anterior visual pathway (i.e. the optic nerves and chiasm). Although gliomas are the commonest tumors other neoplasms are also seen in this location. Hence there is a need for histologic verification before all neoplasms seen here are managed as gliomas. Surgical excision without compromising the neurologic, visual and endocrine state is suggested as the main option. Chemotherapy and or …radiation can be considered as adjuvants depending on the age of the patient. Radiation is best avoided in children less than four years of age. (J Pediatr Neurol 2003; 1(2): 89–94). Show more

Keywords: tumor, anterior visual pathway, chiasm gliomas

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 89-94, 2003

Authors: Mirdha, Bijay Ranjan

Article Type: Research Article

Abstract: Detection of antibodies to Toxoplasma in sera from patients suffering from recurrent unprovoked seizures were performed using "in-house" indirect hemagglutination assay and by commercially available anti-Toxoplasma immunoglobulin G and immunoglobulin M enzyme-linked immunosorbent assays. Serum antibody to toxoplasmosis were detected in 12.3% and 15.3% by indirect hemagglutination assay and enzyme-linked immunosorbent assays and respectively. Controls showed seropositivity of 5.7% for antibody to Toxoplasma using the same methods. Seropositivity was higher in children …compared to adults. No gender differences were noted. Individuals with rural background (living in a relatively unhygienic conditions) were more commonly affected compared to people living in urban areas. (J Pediatr Neurol 2003; 1(2): 95–98). Show more

Keywords: Toxoplasma gondii, IHA, ELISA, epilepsy

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 95-98, 2003

Authors: Uwaezuoke, Samuel N. | IIechukwu, Gideon C. | Okafor, Henrietta U.

Article Type: Research Article

Abstract: Although digit-sucking habit is common in preschool children, there is multiracial variation of prevalence rates. Hitherto unidentified variables are being reported as possible risk factors. To analyse this habit in preschool children in Enugu, Eastern Nigeria, a prospective crosssectional study was conducted on one hundred (100) children. Their mothers were interviewed with a structured questionnaire. The habit was noted in 23% of the children, with a slight male preponderance. Using the correlation coefficient model, longer …total duration of breast-feeding was not well correlated with increase in number of digit-sucking preschool children (correlation coefficient, r = 0.36, P < 0.05). The number of these children exposed to pacifier sucking was significantly greater than the number of their non-sucking counterparts with similar exposure (χ^2 = 38.56, P < 0.05). It is concluded that preschool children exposed to pacifier use and shorter duration of breast-feeding were more likely to exhibit the habit. (J Pediatr Neurol 2003; 1(2): 99–101). Show more

Keywords: digit-sucking, habit, preschool children, prevalence, risk factors

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 99-101, 2003

Authors: Härtel, Christoph | Schepermann, Kathrin | Schilling, Stefan | Petersen, Dirk | Eckerle, Susanne | Sperner, Jürgen

Article Type: Research Article

Abstract: Chorea is characterized by abnormal hyperkinetic movements which may be a clinical symptom in a wide array of neurological disorders. This report describes the case of a 7-year-old boy who developed a paroxysmal, rightsided hemichorea three weeks after a throat infection. In correlation to the clinical findings, the area of the left putamen presented with a minimal lesion in diffusion weighted Magnetic resonances imaging which was not further evident two weeks later. Corresponding flour deoxy glucose …positron emisson tomograpy showed an increased glucose uptake of the left lentiform nucleus and left frontocentral cortex. Given the serological evidence of streptococcal infection as specific trigger, this case report illustrates not only the importance of neuroimaging data in the differential diagnosis of chorea but also the potential pathophysiological role of immune-mediated reactions as etiological factor. (J Pediatr Neurol 2003; 1(2): 103–106). Show more

Keywords: children, paroxysmal hemichorea, streptococcal infection

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 103-106, 2003

Authors: Yılmaz, Nebi | Arslan, Mehmet | Kıymaz, Nejmi | Demir, Özgür | Yılmaz, Cahide

Article Type: Research Article

Abstract: Cranial nerve lesions often accompany head trauma. Olfactory, facial and vestibular nerves are the most commonly injured nerves. Optic and oculomotor nerve injuries are less frequently involved, and trigeminal, abducens and lower cranial nerves are rarely involved. The injury may occur in central nervous system or in the lower motor unit. Traumatic bilateral abducens paralysis is a very rare occurrence. It may follows cervical spine trauma and sixth nerve avulsion has been reported to complicate lumbar …puncture. In this study, we describe an 11-year-old boy with bilateral abducens paralysis following hematoma in the left ponto-cerebellar angle and hemorrhage in the prepontine cisterns due to head trauma. Such hemorrhages might result in lesions in the supranuclear regions by traction on the nerve due to displacement of the pons and its nucleus as a result of direct pressure. (J Pediatr Neurol 2003; 1(2): 107–109). Show more

Keywords: abducens nerve, paralysis, head trauma

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 107-109, 2003

Authors: Sethi, Sujata | Bhargava, Subhash C.

Article Type: Research Article

Abstract: Functional aphonia is a functional voice disorder. Though common in adults, it is not often seen in young children. The case reported here highlights an unusually prolonged duration of the condition and the possibility of quick resolution by faradic stimulation. (J Pediatr Neurol 2003; 1(2): 111–112).

Keywords: functional aphonia, faradic stimulation

Citation: Journal of Pediatric Neurology, vol. 1, no. 2, pp. 111-112, 2003