Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature
GFER-related mitochondrial encephalomyopathy has been previously described only in 3 siblings of a consanguineous Moroccan family. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. Multiple mitochondrial respiratory chain complex deficiencies were identified on muscle biopsy. We describe a now-19-year-old woman with adrenal insufficiency, lactic acidosis, congenital cataracts, and respiratory insufficiency secondary to mitochondrial disorder, who was reported by North et al (1996) as a toddler. Compound heterozygous GFER mutations c.373C>T (Q125X) and c.581G&g...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Calderwood, L., Holm, I. A., Teot, L. A., Anselm, I. Tags: Original Articles Source Type: research
Comparison of Efficacy and Side Effects of Oral Baclofen Versus Tizanidine Therapy with Adjuvant Botulinum Toxin Type A in Children With Cerebral Palsy and Spastic Equinus Foot Deformity
This retrospective study aimed to compare the therapeutic response, including side effects, for oral baclofen versus oral tizanidine therapy with adjuvant botulinum toxin type A in a group of 64 pediatric patients diagnosed with static encephalopathy and spastic equinus foot deformity. Following botulinum toxin A treatment, clinical improvement led to the gradual reduction of baclofen or tizanidine dosing to one-third of the former dose. Gross Motor Functional Measure and Caregiver Health Questionnaire scores were markedly elevated post–botulinum toxin A treatment, with scores for the tizanidine (Gross Motor Function...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Dai, A. I., Aksoy, S. N., Demiryürek, A. T. Tags: Original Articles Source Type: research
Intracranial Hypertension Without Papilledema in Children
This study aims to determine the frequency of intracranial hypertension without papilledema in children. Charts of patients evaluated in a pediatric intracranial hypertension clinic at our institution were retrospectively reviewed. The patients were divided into 2 groups depending on whether they had presence or absence of optic nerve edema at the time of presentation. Age, body mass index, and opening cerebrospinal fluid pressures were considered continuous variables and compared by Wilcoxon rank sum test because of non-normality. A P-value of 0.05 was considered significant. A total of 228 charts were reviewed; 152 patie...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Aylward, S. C., Aronowitz, C., Roach, E. S. Tags: Original Articles Source Type: research
School Performance and Neurodevelopment of Very Low Birth Weight Preterm Infants: First Report From Turkey
In this study, 90 infants born with a birth weight <1500 g and/or with a gestational age <32 weeks were evaluated after the first year of elementary school to assess neurodevelopment. The Wechsler Intelligence Scale for Children–Revised (WISC-R) test, Pediatric Symptom Checklist, and Parent Evaluation of Developmental Status were performed. Mental retardation, cerebral palsy, blindness, epilepsy, and posthemorrhagic hydrocephaly incidences were 14%, 7%, 2%, 5%, and 2%, respectively. The WISC-R score of 32 patients (35.5%) were below 85. Perinatal asphyxia, abnormal neurologic examination, and delayed or impaire...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Koc, O., Kavuncuoglu, S., Ramoglu, M. G., Aldemir, E., Aktalay, A., Eras, Z. Tags: Original Articles Source Type: research
Do Patients Require Inpatient Admission to Receive Adrenocorticotropic Hormone (ACTH)? A Survey of US-Based Prescribers
We aimed to determine variation in treatment of newly diagnosed infantile spasms, focusing on details of adrenocorticotropic hormone (ACTH) administration using a Redcap questionnaire sent to members of the Child Neurology Society. Two hundred fifty-seven members responded. Eighty-four percent prescribers used ACTH to treat infantile spasms. Seventy-six percent always admit patients. There is no difference between prescriber type (epileptologist or other) and prescriber location (state-funded or non-state-funded hospital) for decision to admit. Electroencephalographic (EEG) confirmation of spasms and education for injectio...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Joshi, C., Berg, A. T., Wirrell, E. Tags: Original Articles Source Type: research
Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome
This study is the first to suggest a link between atypical diurnal cortisol rhythms and regression status in MECP2 duplication syndrome and may have implications for treatment. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Peters, S. U., Byiers, B. J., Symons, F. J. Tags: Original Articles Source Type: research
Spinal Fusion for Scoliosis in Rett Syndrome With an Emphasis on Respiratory Failure and Opioid Usage
This study was a retrospective chart review of patients undergoing scoliosis surgery at a tertiary children’s hospital. Patients were divided into 3 groups: (1) adolescent idiopathic scoliosis, (2) neurologic scoliosis, and (3) Rett syndrome. There were 133 patients with adolescent idiopathic scoliosis, 48 patients with neurologic scoliosis, and 8 patients with Rett syndrome. We found that patients with Rett syndrome undergoing scoliosis surgery have higher rates of respiratory failure and longer ventilation times in the postoperative period when compared with both adolescent idiopathic scoliosis and neurologic scoli...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Rumbak, D. M., Mowrey, W., W. Schwartz, S., Sarwahi, V., Djukic, A., Killinger, J. S., Katyal, C. Tags: Original Articles Source Type: research
Preliminary Validation of a New Developmental Screening Tool for Neurodevelopmental Delay in HIV-Infected South African Children
Screening for developmental delays among HIV-infected children is not routine in most pediatric HIV clinics in Africa because of the lack of locally adaptable, simple, sensitive and rapid screening tools. The Division of Developmental Pediatrics of the Red Cross War Memorial Children’s Hospital developed a tool for rapid screening of moderate to severe global developmental delays among HIV-infected children aged 9 to 36 months. The diagnostic accuracy of the novel screening tool was evaluated. Forty-seven HIV-infected children aged 9 to 36 months were screened using the Red Cross War Memorial Children’s Hospita...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Boyede, G., Eley, B., Donald, K. Tags: Original Articles Source Type: research
Effect of Prematurity on Cerebellar Growth
The aim of this study was to evaluate cerebellar growth of preterm infants. Vermis height and transverse cerebellar diameter were measured by cranial ultrasonography in 38 preterm infants (27-32 weeks) at birth and term equivalent age. Measurements were compared with 40 term appropriate-for-gestational-age infants. Preterms at term equivalent age had larger vermis height than term infants (2.39 ± 0.25 cm vs 2.25 ± 0.18 cm, P = .005), whereas no significant difference was found in the transverse cerebellar diameter (5.32 ± 0.38 cm vs 5.44 ± 0.23 cm, P = .13). Vermis height and transverse cerebell...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Sancak, S., Gursoy, T., Imamoglu, E. Y., Karatekin, G., Ovali, F. Tags: Original Articles Source Type: research
Cardiac Autonomic Dysfunction in Patients With Infantile Spasm and the Effect of Adrenocorticotropic Hormone Treatment
In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spasm and 13 healthy comparisons were enrolled in the study. Cardiac rhythm was recorded with a Holter device for 24 hours before adrenocorticotropic hormone (ACTH) (Synacthen depot) and B6 vitamin administration and 1 month after treatment. Heart rate variability analysis found lower heart rate variability parameters in patients with infantile spasm at the onset of the syndrome, prior to treatment with ACTH. The time domain parameters of heart rate variability values showed a stat...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Gencpinar, P., Kocabas, A., Duman, O., Dündar, N. O., Haspolat, S., Kardelen, F. Tags: Original Articles Source Type: research
Association of Attention Deficit Disorder With Bedside Anti-saccades in Survivors of Childhood Leukemia
Impaired attention is well recognized in childhood cancer survivors. We prospectively evaluated 162 long-term survivors of childhood acute lymphoblastic leukemia to study an association between presence of neurologic soft signs as measured by Zurich Neuromotor Scale, bedside evaluation of anti-saccades, and attention deficit disorder. Attention deficit disorder was recognized in 10.5% of the study cohort. We did not find an association of attention deficit with presence of any soft sign. However, there was an association between presence of abnormal anti-saccades and attention deficit (P = .04). These results will require ...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Khan, R. B., Hudson, M. M., Ness, K. K., Liang, Z., Srivastava, D., Krull, K. R. Tags: Original Articles Source Type: research
JCN Calendar of Events
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - December 15, 2015 Category: Neurology Tags: & lt;I gt;JCN lt;/I gt; Calendar of Events Source Type: research
Targeting the Epidemic: Interventions and Follow-up Are Necessary in the Pediatric Traumatic Brain Injury Clinic
Traumatic brain injury is a major public health problem in the pediatric population. Previously, management was acute emergency department/primary care evaluation with follow-up by primary care. However, persistent symptoms after traumatic brain injury are common, and many do not have access to a specialized traumatic brain injury clinic to manage chronic issues. The goal of this study was to determine the factors related to outcomes, and identify the interventions provided in this subspecialty clinic. Data were extracted from medical records of 151 retrospective and 403 prospective patients. Relationships between sequelae...
Source: Journal of Child Neurology - December 15, 2015 Category: Neurology Authors: Choe, M. C., Valino, H., Fischer, J., Zeiger, M., Breault, J., McArthur, D. L., Leung, M., Madikians, A., Yudovin, S., Lerner, J. T., Giza, C. C. Tags: Original Articles Source Type: research
Medical-School Partnership in Guiding Return to School Following Mild Traumatic Brain Injury in Youth
Mild traumatic brain injury is recognized as a prevalent and significant risk concern for youth. Appropriate school return is particularly challenging. The medical and school systems must be prepared partners to support the school return of the student with mild traumatic brain injury. Medical providers must be trained in assessment and management skills with a focused understanding of school demands. Schools must develop policies and procedures to prepare staff to support a gradual return process with the necessary academic accommodations. Ongoing communication between the family, student, school, and medical provider is ...
Source: Journal of Child Neurology - December 15, 2015 Category: Neurology Authors: Gioia, G. A. Tags: Original Articles Source Type: research
Challenges in Determining the Role of Rest and Exercise in the Management of Mild Traumatic Brain Injury
Current consensus guidelines recommending physical and cognitive rest until a patient is asymptomatic after a sports concussion (ie, a mild traumatic brain injury) are being called into question, particularly for patients who are slower to recover and in light of preclinical and clinical research demonstrating that exercise aids neurorehabilitation. The pathophysiological response to mild traumatic brain injury includes a complex neurometabolic cascade of events resulting in a neurologic energy deficit. It has been proposed that this energy deficit leads to a period of vulnerability during which the brain is at risk for ad...
Source: Journal of Child Neurology - December 15, 2015 Category: Neurology Authors: Wells, E. M., Goodkin, H. P., Griesbach, G. S. Tags: Original Articles Source Type: research
