Hereditary Spastic Paraplegia: From Gene to Clinic

Seyyed Hasan TONEKABONI

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 7-16
https://doi.org/10.22037/ijcn.v3i4.1531

Objective

Hereditary Spastic Paraplegia (HSP) is a degenerative disease of genetic origin affecting the corticospinal tracts in the spinal cord. There are three forms of inheritance: Autosomal dominant HSP, Autosomal rececive HSP and X-linked HSP.

This disease is characterized by progressive spasticity of leg muscles with varying degrees of stiffness and weakness of other muscle groups. In this review, we will discuss the latest findings on  the pathophysiology of axonal degeneration and all the responsible genetic defects in HSP.

 

Developmental Coordination Disorder in Children

Saeideh MIRAFKHAMI, Seyyed Hossein FAKHRAEE, Sina MIRAFKHAMI, Mojtaba YOUSEFI, Mona VARZANDEH FAR

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 17-22
https://doi.org/10.22037/ijcn.v3i4.1532

Objective

In this article, a motor skill disorder called developmental coordination disorder (DCD), that is usually first diagnosed during childhood, is explained and discussed. In the year 1987, DCD was formally recognized as a distinct disorder in children by the American Psychiatric Association  (APA). DCD is a generalized term for the children who have some degrees of impairment in the development of motor coordination and therefore have difficulties with physical skills which significantly interfere with their academic achievements and /or performing everyday activities. As they develop, other age-related tasks are also below average. Because these impairment & conditions are often associated with emotional distress, they can seriously interfere with the person's everyday life and social relationships. Reviews indicate that most of the training rocedures have only a limited effect on the development of general coordination, and that they have no effect at all on academic progress.

This includes approaches based on assumed underlying deficiencies such as sensory integration deficits and kinesthetic functioning deficits, as well as the more traditional perceptual - motor training. One new approach is Cognitive Orientation to daily Occupational Performance (CO-OP), based on problem - solving strategies and guided discovery of the child and task specific strategies. The aim of this article was to inform, promote and disseminate more information about some difficulties in applying the diagnostic criteria for DCD. Also, a brief review of the researches on the intervention methods is presented.

 

Recurrence of Febrile Seizures in Yazd Shahid Sadoughi Hospital

Razieh FALLAH, Sedighah AKHAVAN KARBASI

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 23-30
https://doi.org/10.22037/ijcn.v3i4.1533

Objective

Febrile seizure is the most common problem in pediatric neurology that occurs in 3- 4 % of children. The purpose of this study was to determine febrile seizure recurrence frequency and to evaluate its risk factors.

Materials & Methods

In a descriptive prospective study, 139 children (6 months to 6 years) with first febrile seizure were admitted to Yazd Shaheed Sadoughi Hospital between March 2004 and August 2005 and were followed up for at least 15 months for febrile seizure recurrence.

Results

Seventy six boys and 63 girls with a mean age of 2.03 ± 1.21 years were followed up for 25.1±5.5 months. About 30% of them had complex febrile seizures and 37.4% had febrile seizure recurrence with a mean recurrence time of 6.7 ± 5.9 months. About 65% of the children younger than one year and 30% of those older than one year had febrile seizure recurrence. (P value= 0.0001) Recurrence of seizure was seen in 63% of those who had seizure within an hour from the onset of fever and in 33% of those who had seizure after one hour from the onset of fever. (P value = 0.005) Seizures in children younger than one year old and seizures occurring in association with a fever lasting less than an hour were risk factors of febrile seizure recurrence.

Conclusion

Febrile seizure is more disturbing in children younger than one year old. Antipyretic usage was not effective in preventing seizure recurrence but may reduce discomfort and is reassuring.

 

Comparison of the Frequency and Complications of Inappropriate Antidiuretic Hormone Secretion in Patients with Septic and Aseptic Meningitis

Ali HONARPISHEH MD, Abbas TAGHAVI MD, Mohammad Reza SHARIF MD, Ahmad TALEBIAN MD, Mojtaba ADINEH MD, Parisa HONARPISHEH MD

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 31-34
https://doi.org/10.22037/ijcn.v3i4.1535

Objective

Due to the high prevalence of syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH). This study was carried out to evaluate the prevalence and relevant parameters of SIADH in children with septic and aseptic memingitis hospitalized at Kashan Shahid Beheshti Hospital between 1996 and 2006.

Materials & Methods

This descriptive study was conducted on 230 patients with meningitis hospitalized in the pediatric wards of Kashan Shahid Beheshti Hospital between 1996 and 2006. Relevant information (age, gender, type of meningitis, serum sodium and potassium, urine specific gravity (USG), blood sugar, blood urea nitrogen, serum creatinin, hydration condition) was collected from patients' records. Data was analyzed using Mann-Whitney and K2 tests.

Results

Out of 230 patients with meningitis, 33 had incomplete records and only 197 patients were recruited for this study. Sixty eight cases (34.5%) suffered from SIADH. It was more frequent among 1-2 year old  children.

According to this research, SIADH was diagnosed in 57% of the 121 patients with hyponatremia, 58.7% of the 167 patients with USG > 1.004, 74% of the 93 patients with serum osmolity < 280 mOs/L and 100% of the patients with BUN < 10 mg%.

Conclusion

Due to the high prevalence of SIADH in septic and aseptic meningitis and its complication, it is recommended to restrict fluid therapy and monitor serum sodium, urine specific gravity and other diagnostic tests for SIADH.

Keywords: Hyponatremia; Meningitis; SIADH, Septic, Aseptic

The Efficacy and Safety of Oxcarbazepine as Add-On Therapy in Intractable Epilepsy in Children

Azita TAVASSOLI, Mohammad GHOFRANI, Mohsen ROUZROKH, Eznollah AZARGASHB

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 35-40
https://doi.org/10.22037/ijcn.v3i4.1534

Objective

1-3% of the population suffer from epilepsy. Up to 30% of them develop refractory epilepsy and their seizures occur more than once per month despite receiving at least 2 first line antiepileptic drugs. In  this group, more efficacious antiepileptics are needed. This study was undertaken to evaluate the efficacy and safety of Oxcarbazepine as an adjunction therapy in children with refractory epilepsy.

Materials & Methods

From Feb 2004 until Sep 2006, 30 patients with refractory epilepsy aged between 4 and 14 years were evaluated in a before and after type study.

The patients had seizure ranging from once monthly to more than 10 times daily and none of them had used Oxcarbazepine previously. They received Oxcarbazepine 30 to 50 mg/kg/day orally in  combination with their current antiepileptic drugs and were regularly assessed for seizure frequency and side effects for 10 months.

Results

With Oxcarbazepine adjunction therapy, 10% of the patients became seizure-free, 36.6% experienced more than 50% reduction in seizure frequency, and 13.3% had increasing seizures. The drug was  especially effective in the patients with partial seizures (77.7%). Brief and transient adverse effects were seen in 36.6% of the patients which disappeared with treatment continuation. Wilcoxon signed ranks test showed that oxcarbazepine was effective in the treatment of refractory seizures (P=0.003) and as shown by Fisher's exact test, it was more effective in partial seizures (P=0.0043).

Conclusion

The results showed that Oxcarbazepine was a useful medication in the treatment of refractory epilepsy, especially the partial type, in children.

 

The Effect of the Ketogenic Diet on the Growth and Biochemical Parameters of the Children with Resistant Epilepsy

Mohammadreza ALAEI, Mohammad Reza GHAZAVI, Farhad MAHVELATI, Parvaneh KARIMZADEH, Mohammad Reza SHIVA, Seyyed Hassan TONEKABONI

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 41-44
https://doi.org/10.22037/ijcn.v3i4.1536

Objective

The aim of this study was to evaluate the effect of the ketogenic diet on the growth parameters of the children with resistant epilepsy.

Materials & Methods

A total of 36 children with resistant epilepsy who were 2 to 7 year old were put on the ketogenic diet. Their growth and biochemical parameters were studied at the beginning of the study and after 3 months.

Results

Weight decreased in all patients. Serum levels of hemoglobin, calcium, and blood sugar decreased significantly but remained in the normal range. Creatinine did not change, but BUN showed a significant increase.

Conclusion

We can lower the complications of ketogenic diets by using more unsaturated fat, more water, and more minerals.

 

POST-OPERATIVE NEURODEVELOPMENTAL FINDINGS IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS

Enayatollah ABBAS NEJAD, Mehdi NIKOOBAKHAT

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 45-50
https://doi.org/10.22037/ijcn.v3i4.1537

Objective

To evaluate the developmental situation of children that undergo operation because of syndromic and non-syndromic craniosynostosis.

Materials & Methods

In this prospective study, 24 children (4 to 16 months of age) who underwent neurosurgeryical intervention because of non-syndromic (79%) and syndromic (21%) craniosynostosis were recruited. For psychological evaluation, the Bayley Scales of Infant Development-Second Edition (BSID-II) was applied one month before and one year after surgical correction. The scale consists of three parts, Mental Developmental Index (MDI), Psychomotor Developmental Index (PDI), and Behavior Rating Scale. The MDI and PDI yield age-standard scores (100 ± SD).

Results

Mean baseline BSID-II scores revealed a mild delay in mental and motor scores (MDI: 84.3±2.1; PDI: 80.5±4.2) in non-syndromic craniosynostosis and a moderate delay in mental and motor scores (MDI: 70.3±3.1; PDI: 64.3±1.7) in syndromic craniosynostosis. Mean postoperative BSID-II score revealed improved motor scores (MDI: 91.3±0.1; PDI: 91.3±0.2) in non-syndromic craniosynostosis and mean postoperative BSID-II score revealed a mild delay in mental scores and no change in PDI. Among children with syndromic craniosynostosis, mean BSID-II score indicated mild baseline deficits in both mental and motor scores post operatively.

Conclusion

Mental development and prognosis was better in non-syndromic

craniosynostosis comparing syndromic craniosynostosis. Surgery is

effective in neurodevelopmental growth in non syndromic types of

craniosynostosis but in syndromic type, remodeling surgery does not

significantly affect neurodevelopmental outcome.

Keywords

: Craniosynostosis, BSID-II, Neurodevelopmental

Evaluation of the Nutritional Status in Children Admitted to the Neurology Ward of Mofid Children’s Hospital

Maryam BEHESHTI, Farid IMAN ZADEH, Noushin SHAHIDI

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 51-57
https://doi.org/10.22037/ijcn.v3i4.1538

Objective

Malnutrition is commonly considered as an important risk factor that can produce a negative influence on the prognosis of patients with chronic neurological diseases. We aimed to evaluate the nutritional status of patients admitted to the neurology ward of Mofid children's hospital via subjective and objective methods.

Materials & Methods

61 children (2-6 years of age) who were consecutively hospitalized at the neurology ward between January and March 2008 underwent objective (weight, height, mid upper arm circumference- MUAC- and triceps skinfold thickness- TSF) and subjective nutritional assessment.

Results

The result showed that 42.6%, 37.7% and 25.9% of patients were consecutively wasted, underweight and stunted. The z- Scores for TSF and MUAC were below -1 in 32.7% and 41.8% of the patients,  consecutively. According to subjective Assessments (SGNA), 52.7% were malnourished. The prevalence of malnutrition was not significantly different between sex or diagnosis groups.

Conclusion

malnutrition is of high prevalence in patients with neurologic diseases. Regular assessment and timely nutritional support may improve the situation.

 

A Case Report of A 2.5-Year-Old Girl with Angelman Syndrome (AS)

Mohammad Reza SALEHI OMRAN, Mohammad Kazem BAKHSHANDEH BALI

Iranian Journal of Child Neurology, Vol. 3 No. 4 (2010), 7 April 2010 , Page 59-63
https://doi.org/10.22037/ijcn.v3i4.1539

Objective

Angelman Syndrome (AS) is a genetically determined syndrome that has a unique behavioral phenotype. This syndrome is described as jerky ataxia and an unusual happy facial expression with pathological laughter. Severe mental retardation is a unique feature of the syndrome, together with microbrachycephaly and abnormal electroencephalographic findings with or without clinical seizures. The patients cannot speak or at most, they have a vocabulary consisting only of a few words. The genetic abnormality of AS has been located on chromosome 15q11-q13. Patients with AS mostly have deletions on the maternally derived allele (75-80%) while some of them show paternal  uniparental disomy (~2%) or a rare imprinting mutation developmental disorder caused by deletion of the maternally-inherited chromosome 15q11-13. A 2.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 27 months when she presented with mental retardation and epilepsy, absence of speech, inability to gait and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly,  mid-facial hypoplasia, macrostomia and a prominent mandible. Chromosomal analysis revealed 46 xx with the deletion of 15q chromosome (15q11q13-snrpn/ic) Our patient met the classical phenotype and genotype of AS.