Iranian Journal of Child Neurology

Abstract

Objective

The last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. However, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge of

molecular causes of these tremendously complex conditions. Common genetic disorders of brain development include septo-optic dysplasia, schizencephaly, holoprosencephaly, lissencephaly and hindbrain malformations. For each of these disorders, a critical step in brain development is disrupted. Specific genetic diagnosis is now possible in some patients with most of these conditions. For the remaining patients, it is possible to apply gene-mapping strategies using newly developed high-density genomic arrays to clone novel genes. This is especially important in countries like Iran where large family size and marriage between relatives makes these strategies tremendously powerful.

Abstract

Objective

Development is a complex process, completed over a specific period of time, through the maturation of the nervous system. It is affected by genetic, ethnic, nutritional, social, and economic factors; one of the environmental factors affecting the acquisition of motor skills in infants is the use of baby walkers. Since this device is very commonly used for infants in our country, we conducted this study to evaluate its effects on the acquisition of motor skills in this age group of children.

Materials & Methods

This longitudinal study was conducted in 2005 on 300 infants referring to the Primary Health Care Centers of Kashan district in 1384; the infants were divided into two groups of 150 babies each, with the case group using baby walkers, while the other 150, the controls, did not. All babies were followed for two years, and the ages for acquisition of motor skills were documented during face-to face or telephone interviews with the parents. Data were analyzed using the T-test and the Chi Square test.

Results

Of the study population, 175 babies (58.33%) were male. The mean age of acquisition of motor skills including rolling, crawling, moving on hands and feet, sitting without and with help, standing and walking dependently and independently were found to be delayed in infants using baby walkers, a difference between the two groups of walker users and non- walker users that was statistically significant (P<0.001).

Conclusion

Considering the adverse effects that walkers have on the acquisition of motor skills in infants, as demonstrated by the results of this study, we do not recommend the use of baby walkers in infants.

Abstract

Objective

Neural tube defects including anencephaly, encephalocele, and spina bifida are major congenital malformations with multifactorial etiology, and with a great variation in their prevalence in different populations. The study on the prevalence of these malformations may be helpful in planning strategies for their prevention. The aim of this epidemiologic descriptive study was to determine the prevalence of neural tube defects and to describe their birth characteristics in Motahhari hospital, Urmia, West Azerbaijan.

Materials and Methods

A cross-section observational study was carried on the hospital-based charts of consecutive 13997 live-births and 124 stillbirths during the period January 2001 through June 2005. The defects categorized based on the domains of anencephaly, spina bifida, and encephalocele according to standard definitions.

Results

During this period, 117 cases were detected with neural tube defects, giving an overall  prevalence of 8.29/1000. Of 117 cases, 81 (69.23%) cases were seen among stillbirths and 36 (30.77%) cases among live-births, that is, the prevalence of neural tube defects for stillbirths and live-births were 653.2/1000 and 2.57/1000 respectively. The yearly prevalence varies between 6.99/1000 and 9.82/1000 over the 4.5-year period. The major lesion was  anencephaly with prevalence of 5.52/1000 (66.67% of all neural tube defects). Approximately, two-thirds (66.09%) of cases were found in females. Weights of 73.36% of anencephalic cases were less than 1000 grams.

Conclusion

In this study, the prevalence of neural tube defects is among the highest reported rates. There was a significance difference in the prevalence of anencephaly, as the most prevalent NTD, between live-births and stillbirths. These findings may necessitate an intensive approach to periconceptional folic acid supplementation as a possible strategy to reduce the prevalence of these defects.

Abstract

Objective

Compared to other pediatric emergencies, febrile convulsions (FC), despite having an excellent prognosis, are a main cause of considerable anxiety among mothers of children faced with their child's first febrile convulsion.

Consequently, one of the physician's most important responsibilities in the management of pediatric febrile convulsions is to educate and guide mothers on how to reduce their anxiety. This study was performed on mothers whose children had been admitted to Mofid Children's Hospital following a first febrile convulsion, to determine the effect of education on lowering the levels of maternal anxiety after their child's first febrile convulsion.

Materials and Methods

In this sequential control clinical trial, 84 volunteering mothers were divided in two matched groups, the intervention and the controls. Maternal anxiety levels were determined in both groups by the State Trait Anxiety Inventory (STAI) standard questionnaire (pretest). Following this, the intervention group of mothers underwent face-to-face education for 3 hours, whereas no intervention was used for the control group. After nine days, anxiety levels were determined in the two groups using the same questionnaire (post-test).

The data was analyzed using the Mann-Whitney, the Wilcoxon Signed Rank Sum, and the McNemar tests, and chi-square analysis.

 Results

Results show that in the intervention group, maternal anxiety decreased significantly (p

Conclusion

This study demonstrates that maternal education on FCs significantly reduces maternal anxiety, in coping with stress following their child's first febrile convulsion, and considering the results of similar studies, educational programs are highly recommended for mothers having children who suffer from the condition.

Abstract

Objective

Tumors of the central nervous system constitute the largest group of solid neoplasms in children and are second only to leukemia in their overall frequency during childhood. The main purpose of the present study is to determine the incidence, age, sex, location and histological diagnosis of CNS tumors in children, less than 15 years of age, in the Mofid Children's Hospital, in the past 10 years.

 Materials and Methods

In this descriptive retrospective study we reviewed the medical records of 143 children with diagnosis of CNS tumors admitted during the past 10 years in neurology and surgery departments of Mofid Children's Hospital between the years 1996 and 2006.

Results

During the 10 year study period, CNS tumor was diagnosed in 143 patients; of these tumors, 119 were intracranial and 58 were intraspinal; 51.3% of brain tumors were located in the supratentorial and 48.7% in the infratentorial regions. The most common intracranial neoplasms were astrocytic tumors (36.8%), embryonal tumors (31.1%) and ependymal tumors (13.4%). Of the intraspinal neoplasms the most frequently noted were embryonal tumors

(37.5%), mesenchymal meningothelial tumors (20.8%), followed by astrocytic tumors (16.7%). The median age at diagnosis was 8.9 ± 4.1 years with a male to female ratio of 1.4:1 (P

Conclusion

Brain tumors in children constitute a diverse group in terms of incidence,

distribution and histopathological diagnosis.

Abstract

Objective

Febrile convulsions (FC) are the most common convulsive events in childhood, occurring in 2-5% of children. About one third of these children will have  a recurrence during a subsequent febrile infection. This sudden neurologic problem is extremely frightening and emotionally traumatic for parents so some physicians try to prevent recurrence of FC by prescribing different drugs.

Materials and Methods

This is a randomized clinical trial in 85 healthy children, aged 6 months to 5 years, who were not treated before. These children received randomly either oral diazepam (0.33 mg/kg/TDS for two days during febrile illness) or continuous oral Phenobarbital (3-5mg/kg /24 h).

Results

Ultimately 64 patients completed the study and were followed up for an average of 13 months (12-18 months). The rate of recurrence of febrile seizure was 18.2% in diazepam group and 32.3% in Phenobarbital group; the difference is not statistically significant (p=0.16).

Conclusion

There was no significant difference between intermittent oral diazepam and continuous oral Phenobarbital for FC prevention.

Abstract

Objective

Children suffering from Cerebral Palsy (CP), exhibit movement limitations and physiological abnormalities as compared to normal individuals.

The objective of this study was to assess mechanical efficiency and certain cardiovascular indices before and after an exercise-rehabilitation program in children with dipelegia spastic cerebral palsy (experimental group) in comparison with able-bodied children(controls).

 Material and Methods

In this study, 15 spastic cerebral palsy (dipelegic) children participated in an exercise-rehabilitation program, three days a week for three months with an average 144bpm of heart rate. The mechanical efficiency (net, gross), rest and submaximal heart rate and maximal oxygen consumption (VO2max) were measured before (pretest) and after (posttest) exercise program on the cycle ergometer according to the Macmaster ergometer protocol. Then control group, of 18 normal children underwent the exercise program and were assessed, following which results of the 2 groups were compared using SPSS for statistical analysis (P<0.05).

 Results

Mechanical efficiency (net, gross) increased significantly in CP patients after the exercise-rehabilitation program; reults did not alter significantly for the controls.

Rest and submaximal heart rate in CP patients decreased significantly after exercise program. Maximal oxygen consumption, which remained unchanged in patients following the exercise program, was similar in patients and controls after the program.

 Conclusion

Cerebral palsy patients, because of their high muscle tone, severe degree of spasticity, and involuntary movements are physically more incapacitated and need more energy than normal able-bodied individuals. Rehabilitation and aerobic exercise can be effective in improving their cardiovascular fitness and muscle function and increasing their mechanical efficiency.

Abstract

Objective

Autosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. The disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. Depending on the clinical type (Werdnig- Hoffmann = type I, intermediate form = type II, Kugelberg-Welander = type III), some workers also have delineated an adult form of SMA (SMA type 4).

SMA causes early death or increasing disability in childhood. The aim of this investigation was to describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion.

Materials & methods

This is a descriptive study conducted on 10 patients of SMA, confirmed by deletion of the SMN gene. All 10 patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 1 months of age, and either proximal or predominant in lower limbs. Frequency determination of positive clinical and laboratory data was done according to revised diagnostic criteria.

Results

It was found that all patients with SMA had homozygous deletions of exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, which is one of the candidate genes identified within 5q13. Fasciculations, atrophy and decreased DTR were frequent findings. Laboratory metabolic tests and all brain CT scans were normal. EMG and NCV findings, all showed normal motor and Sensory NCV and denervation of muscles of upper and lower extremities were compatible with a diagnosis of spinal muscular atrophy.

Conclusion

Our results confirm that SMN1 copy number analysis is an important parameter for identification of couples at risk of having a child affected with SMA and reduces unwarranted prenatal diagnosis for SMA.

Abstract

Objective

This article reports on an 5-month-old infant who was admitted to our hospital for prolonged fever, focal status epilepticus and encephalopathy.

Brain magnetic resonance imaging (MRI) demonstrated a single hyperintense lesion in right putamen in T2-weighted images.

A diagnosis of acute disseminated encephalomyelitis was made based on the clinical features, treatment response and clinical course. An executive literature review revealed a few cases under the age of one year .This patient is the youngest are who is reported from Iran.

Objective

The diagnosis of de Morsier syndrome or septo-optic dysplasia is made on the basis of the diagnosis of optic nerve hypoplasia. Septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development.

The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of  this syndrome This article reports a 19-year-old female with bilateral optic nerve  hypoplasia,anterior encephalocele and intact septum pellucidum. She was diagnosed with diabetes insipidus, short stature and the history of seizure.

Objective

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis,frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes.