Journal of Pediatric Neurology - Volume 9, issue 1

Authors: Makkonen, Ismo | Riikonen, Raili | Kuikka, Jyrki T. | Kokki, Hannu | Bressler, Joseph P. | Marshall, Cathleen | Kaufmann, Walter E.

Article Type: Research Article

Abstract: Fluoxetine, a selective serotonin reuptake inhibitor, has shown favorable effects in some children with autism. There are no previous studies evaluating the connection between clinical outcome and markers of clinical response to fluoxetine treatment. In this prospective clinical trial we examined serum brain derived neurotrophic factor (BDNF) concentrations and serotonin transporter (SERT) binding in the medial frontal cortex and the midbrain, measured by single photon emission computed tomography scanning, in a group …of 13 autistic children and adolescents (12 males; age 5–16 years), who were treated for 6 months with fluoxetine at a dose range of 10–40 mg/day. Clinical response was evaluated by the Autism Treatment Evaluation Checklist. Serum concentrations of BDNF and SERT binding were measured at baseline and 2 months after termination of fluoxetine treatment. At baseline, before starting fluoxetine treatment, the serum concentration of BDNF had a bimodal distribution in the autism group with either a low concentration (n=8, mean 1497 pg/mL) or a high concentration (n=5, mean 14062 pg/mL) with respect to controls (n=15, mean 9652 pg/mL), and SERT binding was uniformly low in the autistic subjects in the medial frontal cortex and the midbrain. Fluoxetine treatment led to positive effects in several aspects of communication, socialization and cognitive awareness, with six out 13 subjects being particularly good responders. These six also had a significant decrease in BDNF (P=0.03) and minimal change in SERT binding after therapy. The other seven subjects showed a trend towards an increase in BDNF and SERT binding. Our results indicate that fluoxetine may improve core autistic symptoms, and that this clinical response is linked to a decrease in serum BDNF. Show more

Keywords: Adolescent, autism, BDNF, children, clinical outcome, fluoxetine, serotonin transporter, SPECT

DOI: 10.3233/JPN-2010-0446

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 1-8, 2011

Authors: Awaad, Yasser | Rizk, Tamer | Roosen, Norbert | Mcintosh, Kelly A. | Waines, Michael

Article Type: Research Article

Abstract: During the past decade, vagus nerve stimulation has become an accepted treatment method for patients with refractory epilepsy who are not proper candidates for invasive, potentially curative epilepsy surgery such as lesionectomy or mesial temporal lobectomy. We aimed to review our clinical experience with vagus nerve stimulation in a pediatric and young adolescent population specifically focusing on the necessary special considerations for these young patients and on surgical pearls in this age group. This is a …single center study from the Oakwood Hospital Epilepsy Clinic in which all our consecutively enrolled patients were followed as a cohort with ongoing concurrent as well as retrospective review of in-patient and outpatient records. All patients (n=30) had a technically successful initial implantation procedure, but four (13%) required additional interventions. This included six revisions for mechanical causes, pectoral dehiscence and explants as well as re-implantation. Epilepsy control improved remarkably in 20 patients (67%) resulting in an improved quality of life for the majority of our patients. Appropriate technical modification and attention to detail is needed in these young patients to achieve optimal surgical results. Show more

Keywords: Vagus nerve stimulation, child, surgery, complication, epilepsy, seizures

DOI: 10.3233/JPN-2010-0450

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 9-13, 2011

Authors: Hart, Anthony R. | Batty, Ruth | Widjaja, Elysa | Rigby, Alan S. | Connolly, Daniel J.A. | Baxter, Peter S. | Griffiths, Paul D.

Article Type: Research Article

Abstract: Magnetic resonance imaging (MRI) is recommended as a part of investigation of children with global developmental delay (GDD) and additional symptoms, but not for those with isolated GDD. Our aims were to review our local experience on the frequency of abnormalities of the brain in children with developmental delay and assess if abnormalities are as common in our children with isolated GDD as those with GDD and additional symptoms. One hundred and thirty-two children referred for …MRI of the brain as part of their investigation for GDD between January 1998 and December 2006 were identified from a local database of MRI in our radiology department. Clinical features up to the point of referral for MRI were noted and participants divided into two groups: isolated GDD, and GDD with additional features. MRI reports were classified as normal or abnormal. Fisher's exact test was used to identify statistical differences in the prevalence of MRI abnormalities between the groups. Nine (6.8%) had isolated GDD and 123 (93.2%) had GDD and additional symptoms. Four (44.4%) of the children with isolated GDD had abnormal MRI. 68 (55.3%) children with GDD and additional symptoms had abnormal MRI. Children with GDD and additional symptoms were 1.51 times more likely to have an abnormal MRI than children with isolated GDD (95% confidence interval = 0.39, 5.88; P=0.73). No statistical difference existed between the prevalence of abnormalities on MRI in those with isolated GDD and GDD with additional symptoms, although the small numbers of participants with isolated GDD risks a type II statistical error. Further studies are warranted to determine the usefulness of MRI in children with isolated GDD. Show more

Keywords: Pediatrics, developmental delay disabilities, magnetic resonance imaging, brain imaging

DOI: 10.3233/JPN-2010-0428

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 15-21, 2011

Authors: Ibrahim, Khalid | Russell, George | Cahill, Denise | Ahmed, Mas

Article Type: Research Article

Abstract: Chvostek's sign (CS) was examined in 590 consecutive children with headache. A positive CS was found in 186/590 (31.5%) patients (111 mild; 75 marked). Forty-two percent of patients with migraine with aura, 5% migraine without aura and 0.85% patients with non-migraine headaches had a markedly positive CS. Trousseau's sign and biochemical investigations were negative. Within each headache diagnostic group, there were no significant differences in demographic data, headache characteristics or psychosocial issues …between patients with negative or positive (mild or marked) CS. Our findings provide further evidence that the pathophysiology of migraine and specially migraine with aura may differ from that of other headaches. Show more

Keywords: Headache, migraine, Chvostek's sign, child, pathophysiology

DOI: 10.3233/JPN-2010-0430

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 23-27, 2011

Authors: Fasunla, Ayotunde J. | Adeosun, Aderemi A. | Afolabi, Adefemi O. | Nwaorgu, Onyekwere G.

Article Type: Research Article

Abstract: Early identification and treatment of infants with hearing loss is paramount to achieving a reduction of hearing disability in the society. However, the standard equipments required for this screening are not readily available in most health facilities in developing countries. This study therefore assessed the usefulness and effectiveness of behavioral test of hearing as a public health tool for screening infants for hearing loss. It was a cross sectional study of infants at the immunization clinic …of Adeoyo Maternity Hospital, Ibadan, Nigeria. A semi-structured questionnaire was administered to the caregivers to assess the hearing of the infants. All the participants had both behavioral test of hearing and evoked otoacoustic emission test carried out on them. Two hundred and sixty two infants, 127 (48.5%) males and 135 (51.5%) females participated in the study. A sensitivity value of 66.7%, specificity value of 86.9%, positive predictive and negative predictive values of 5.6% and 99.6% respectively were obtained for the behavioral test of hearing. Behavioral tests of hearing as a public health tool can provide useful information for the initial and early identification of infants with hearing loss. Such infants identified with hearing loss by behavioral test of hearing would then be referred for further audiologic evaluation and management. Show more

Keywords: Behavioral test of hearing, hearing loss, infants, otoacoustic emission

DOI: 10.3233/JPN-2010-0429

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 29-33, 2011

Authors: AL Farra, Helmi Yousif

Article Type: Research Article

Abstract: The main purpose of this study was to determine the frequencies distribution of methionine synthase (MTR) (MTR 2756 A > G and MTR 2758 C > G) polymorphisms in the Jordanian population. The frequencies of these polymorphisms were determined in a sample of 491 individuals (males were 270 and females were 221) collected from all the Jordanian regions, which is a good representation of the Jordanian population. The different alleles and genotypes at the two polymorphic …sites were identified using the polymerase chain reaction-restriction fragment length polymorphism polymerase chain reaction restriction fragment length polymorphism analysis. Results showed that the overall percentages in the whole Jordanian population were 90.73% and 9.27% for the MTR 2756 A and MTR 2756 G alleles respectively. Only the wild type allele (C) of the MTR 2758 C > G polymorphism was detected. In addition, the association of MTR 2756 A > G and MTR 2758 C > G polymorphisms with the development of neural tube defects (NTDs) was examined using 17 cases of mothers from the Northern part of Jordan who gave birth to NTD affected children during the period of this study. Results showed no association between these two examined polymorphisms and the increase in maternal risk for giving birth to NTD children. The results in this study recommend that more examination should be done on larger populations to make good conclusion, also more studies on gene-gene interaction should be done to examine the associations with NTDs. Show more

Keywords: Neural tube defects, methylenetetrahydrofolate reductase, methionine synthase, polymorphism, Jordan

DOI: 10.3233/JPN-2010-0432

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 35-40, 2011

Authors: Helder, Emily J. | Austria, Emily | Lacy, Maureen | Frim, David M.

Article Type: Research Article

Abstract: Neuropsychiatric disease is often prevalent in white matter disorders. Hydrocephalus, for example, causes a disruption of white matter pathways. While research has shown that emotional and behavioral problems are prevalent in myelomeningocele (MMC) associated hydrocephalus, it is less clear if this is true in hydrocephalus due to other etiologies. The present study compared 30 children with early onset communicating shunted hydrocephalus with 18 healthy controls (age range 6–16 years) with regard to parent rated …behavior and emotional functioning, controlling for intelligence quotient differences between groups. Results indicated that children with communicating hydrocephalus have a higher incidence of clinically significant reported behavioral/emotional difficulties (30%) compared with controls (11%). Internalizing problems were significantly more common in patients compared to controls. These findings underscore the importance of monitoring behavioral and emotional adjustment in children with hydrocephalus and intervening as appropriate. In addition, these observations show that MMC children with hydrocephalus and congenital hydrocephalus patients have similar emotional difficulties implying that it is hydrocephalus and not other MMC-associated brain anomalies that affect emotional outcome. Show more

Keywords: Congenital hydrocephalus, internalization, emotional problems

DOI: 10.3233/JPN-2010-0433

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 41-47, 2011

Authors: Lagunju, Ikeoluwa A. | Brown, Biobele J. | Famosaya, Abimbola A.

Article Type: Research Article

Abstract: Stroke is a devastating and potentially fatal complication of sickle cell disease (SCD). Children who survive a stroke attack are also at increased risk of motor disabilities, learning difficulties and epilepsy. The study was carried out to evaluate the prevalence and characteristics of stroke and its attendant complications in children with SCD seen at the University College Hospital, Ibadan, Nigeria. All consecutive cases of SCD that developed a stroke over a 4-year period were studied and …followed up for a period of 1 year. Twenty-four of 351 children with SCD developed a stroke, giving a prevalence rate of 6.8%. The mean age at first stroke was 81.4 ± 37.2 months, 75% of children suffered the first stroke between the ages of 2 and 9 years. Ischemic stroke was the predominant form seen. The case fatality was 4.2%. Six (26.1%) of the 23 children who survived the first stroke had another attack of stroke within 1 year of the first stroke. The major long-term neurological sequelae were motor disabilities, dysphasia, learning disability and epilepsy. Stroke is a common neurological complication of SCD. Its prevalence in Nigerian children with SCD is not lower than what is reported in North America. The risk of recurrence after a first stroke remains high in the absence of preventive treatment. There is a need to explore other preventive measures apart from periodic blood transfusion to ameliorate the burden of stroke associated with SCD in a resource-poor country like Nigeria. Show more

Keywords: Childhood, stroke, sickle cell disease

DOI: 10.3233/JPN-2010-0431

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 49-53, 2011

Authors: Hofmann, Caroline | Baur, Marc-Oliver | Skladny, Heyko

Article Type: Research Article

Abstract: Mutations of the sodium channel alpha subunit type 1 gene (SCN1A) gene, encoding the voltage gated sodium channel alpha-subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI). So far over 250 SMEI related SCN1A mutations have been identified of which 95% are considered de novo. We report a familial SCN1A missense mutation over three generations with extremely variable phenotypes, from simple febrile seizures to SMEI.

Keywords: SMEI, familial SCN1A mutation, Dravet syndrome

DOI: 10.3233/JPN-2010-0447

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 55-58, 2011

Authors: Beri, Sushil | Gosalakkal, Jayaprakash A. | Hussain, Nahin | Parepalli, Srinivas | Kanhere, Sujata

Article Type: Research Article

Abstract: Proteolipid protein 1 (PLP1) related disorders of central nervous system myelin formation; span a continuum to include a range of phenotypes from Pelizaeus-Merzbacher disease to X linked spastic paraplegia 2. Spastic paraplegia 2 is allelic to Pelizaeus-Merzbacher disease and typically caused by missense mutations in the second extracellular domain of PLP1. We report a family with two brothers, age 4 and 2 years respectively with developmental delay, speech problems and spastic quadriplegia. Their mother had mild …symptoms since the age of 3 years with a diagnosis of 'spastic diplegia'. Molecular genetics confirmed that the family had a premature stop codon at tyrosine 104 (p Tyr104X) a novel mutation in exon 3 of PLP1 gene. This mutation resulted in a truncated PLP1 protein. To the best of our knowledge, this is a novel mutation and has not been described before. Show more

Keywords: PLP1 related disorders, X linked spastic paraparesis, Pelizaeus-Merzbacher disease

DOI: 10.3233/JPN-2010-0445

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 59-61, 2011