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Review Article


Participation of Iranian Cerebral Palsy Children in Life Areas: A Systematic Review Article

Marzieh PASHMDARFARD, Malek AMINI, Afsoon HASSANI MEHRABAN

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 1-12
https://doi.org/10.22037/ijcn.v11i1.11761

How to Cite This Article: Pashmdarfard M, Amini M, Hassani Mehraban A. Participation of Iranian Cerebral Palsy Children in Life Areas: A Systematic Review. Iran J Child Neurol. Winter 2017; 11(1):1-12.

 Abstract

Objective

Cerebral palsy (CP) is the most common cause of chronic disability that restricts participation in areas of occupations for children. The main aim of rehabilitation is enhancement of their clients for participation in occupations. The aim of this study was to overview of the factors influencing the participations of children with CP in Iran.

 Materials & Methods

A systematic, evidence-based process (Duffy 2005) was used. For data gathering electronic databases including Google scholar and Iranian and foreigner famous journals in the fields of pediatrics, were used. The main key words for search were Activity of Daily Living (ADL), Instrumental Activity of Daily Living (IADL), play, leisure, work, rest/sleep, social participation, and education. All the papers of this study were about the factors influencing the participation of Iranian CP children during 2000-2016. Totally, 156 articles were found eligible as for Iranian CP children study, of which 100 articles were discarded. Because of repetitive and duplicability of some articles, 17 articles were removed as well.

 Results

The most studies about Iranian CP children participations in life areas were in the ADL area of participation (N=12), and the lowest articles were in the area in the field of: Work (N=2), play (N=2), and sleep/rest (N=2). Most of the occupational therapists do not focus on the all life areas.

 Conclusion

In Iran, many researchers do not pay attention to the participation of CP children. Many articles just paid attention to the sensory, motor or cognitive components of their clients.


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Research Article


Comparison of Diffuse Weighted Imaging and Fluid Attenuation Inversion Recovery Sequences of MRI in Brain Multiple Sclerosis Plaques Detection

Reza NAFISI-MOGHADAM, Abolghasem RAHIMDEL, Tahereh SHANBEH-ZADEH, Razieh FALLAH

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 13-20
https://doi.org/10.22037/ijcn.v11i1.6287

How to Cite This Article: Nafisi-Moghadam R, Rahimdel A, Shanbehzadeh T, Fallah R. Comparison of Diffuse Weighted Imaging and Fluid Attenuation Inversion Recovery Sequences of MRI in Brain Multiple Sclerosis Plaques Detection. Iran J Child Neurol. Winter 2017; 11(1):13-20.

Abstract

Objective

Suitable magnetic resonance imaging (MRI) techniques from conventional to new devices can help physicians in diagnosis and follow up of Multiple Sclerosis (MS) patients. The aim of present research was to compare effectiveness of Fluid Attenuation Inversion Recovery (FLAIR) sequence of conventional MRI and Diffuse Weighted Imaging (DWI) sequence as a new technique in detection of brain MS plaques.

 

Materials&Methods

In this analytic cross sectional study, sample size was assessed as 40 people to detect any significant difference between two sequences with a level of 0.05.

DWI and FLAIR sequences of without contrast brain MRI of consecutive MS patients referred to MRI center of Shahid Sadoughi Hospital, Yazd, Iran from January to May 2012, were evaluated.

 Results

Thirty-two females and 8 males with mean age of 35.20±9.80 yr (range =11-66 yr) were evaluated and finally 340 plaques including 127(37.2%) in T2WI, 127(37.2%) in FLAIR, 63(18.5%) in DWI and 24(7.1%) in T1WI were detected. FLAIR sequence was more efficient than DWI in detection of brain MS plaques, oval, round, amorphous plaque shapes, frontal and occipital lobes, periventricular, intracapsular, corpus callosum, centrum semiovale, subcortical, basal ganglia plaques and diameter of detected MS plaques in DWI sequence was smaller than in FLAIR.

 Conclusion

Old lesion can be detected by conventional MRI and new techniques might be more useful in early inflammatory phase of MS and assessment of experimental treatments.

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Childhood Epilepsy; Prognostic Factors in Predicting the Treatment Failure

Mohammad Mehdi TAGHDIRI, Mahmoud OMIDBEIGI, Sina ASAADI, Mohammad GHOFRANI

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 21-28
https://doi.org/10.22037/ijcn.v11i1.10956

How to Cite This Article: Taghdiri MM, Omidbeigi M, Asaadi S, Mohebbi M, Azarghashb E, Ghofrani M. Childhood Epilepsy; Prognostic Factors in Predicting the Treatment Failure. Iran J Child Neurol. Winter 2017; 11(1):21-28.


Abstract

Objective

We aimed to find the prognostic factors to detect the patients who fail the treatment of epilepsy, in the early stages of the disease.

Materials & Methods

This study was done on the epileptic patients attending the Neurology Clinic of Mofid Children’s Hospital, Tehran, Iran from September 2013 to October 2014. After defining the criteria for exclusion and inclusion, the patients were divided to two groups based on responding to the medical treatment for their epilepsy and indices were recorded for all the patients to be used in the statistical analyses.

Results

The patients’ age ranged from 1 to 15 yr. There was 188 patients with refractory seizure in group 1 (experimental group) and 178 patient with well controlled seizure in group 2(control group).There was a significant different between serum drug level in both groups and patients with refractory seizure group had a lower serum drug level than control group. In both groups tonic-clonic was the most common type of seizure. Also the prevalence of brain imaging Abnormalityand other neurologic disorders was significantly higher in patients with refractory seizure in compare with control group.

Conclusion

Children with seizure who suffer from refractory epilepsy need more attention and exact observation by the medical staff.

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The Impact of Dynamic Seating on Classroom Behavior of Students with Autism Spectrum Disorder

Nader MATINSADR, Hojjat Allah HAGHGOO, Sayyed Ali SAMADI, Mehdi RASSAFIANI, Enayatollah BAKHSHI, Hossein HASSANABADI

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 29-36
https://doi.org/10.22037/ijcn.v11i1.11193

How to Cite This Article: Matin Sadr N, Haghgoo H, Samadi S.A, Rassafiani M, Bakhshi E, Hassanabadi H. The Impact of Dynamic Seating on Classroom Behavior of Students with Autism Spectrum Disorder. Iran J Child Neurol. Winter 2017; 11(1):29-36.

 

Abstract

Objective

Children with autism have sitting and on-task behavior problems in class. In this study, the effect of three alternative classroom-seating devices such as regular classroom chairs, therapy balls, and air cushions were examined on students’ classroom behavior.

Materials & Methods

15 students with autism participated in this A1-B-A2-C multiple treatments study from Mashhad’s Tabasom School, Mashhad, Iran in 2014. Students’ behaviors were video recorded in three phases: sitting on their common chairs during phase A, air-sit cushioned in phase B, and ball chairs in phase C. Sitting times and on-task behaviors were quantified by momentary time sampling and compared during different phases for important changes during 8 wk.

Additionally, the Gilliam Autism Rating Scale-Second Edition test was used to examine stereotyped movements, social and communication skills of the students in the before and after research.

 Results

Significant increases in in-seat behaviors in 86.7% (thirteen out of 15) of the students and on-task behaviors in 53.3% of the students (eight out of 15) when seated on therapy balls. Air cushions had no significant effects on in-seat/on-task behaviors. The results also showed significant decrease in stereotyped movement and increase in communication and social skills of these students. The teachers also preferred the use of the balls and/or air-cushioned chairs for their students.

Conclusion

Therapy ball chairs facilitated in-seat behavior and decreased autism related behavior of the students with Autism Spectrum Disorder in class.

References

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Morphological Changes of Anterior Cerebral Artery (ACA) in Hydrocephalic Pediatric Patients

Sait OZTURK, Erdogan AYAN, Metin KAPLAN

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 37-42
https://doi.org/10.22037/ijcn.v11i1.11167

How to Cite This Article: Ozturk S, Ayan E, Kaplan M. Morphological Changes of Anterior Cerebral (ACA) Artery in Hydrocephalic Pediatric Patients. Iran J Child Neurol. Winter 2017; 11(1):37-42.

 

Abstract

Objective

The morphology of anterior cerebral artery (ACA) in patients with hydrocephalus (HCP) was analyzed, and its importance was discussed in maintaining cerebral perfusion.

Materials & Methods

A total of 84 cases in 2 groups between 0 and 3 months, followed-up at Firat Universitesi Hastanesi, Beyin Cerrahisi Klinigi, Elazig, Turkiye due to in 2010-2013, were enrolled. Two groups were created for the study. Group 1; patients with HCP and Group 2; as control group without HCP. In both groups, the length of the A2 segment of ACA was measured from its origin to the junction of the genu and body portions of the corpus callosum on T2 mid-sagittal magnetic resonance (MR) scans. For all cases, axial MR imaging scans were used to calculate Evans’ index (EI), and the cases were divided into three groups: Group A, EI ≥50%; Group B, EI of 40-50% and Group C, EI <40%. The two groups (Groups 1 and 2) were compared with respect to ACA length, and the correlation with the EI was quantified. P values below 0.05 were considered statistically significant.

Results

Mean length of ACA was 57.3 mm in Group 1 and 37.5 mm in Group 2. EI increased as the length of ACA increased. A statistical comparison of the two groups revealed that the ACA length was significantly greater in Group 1. The relationship between EI and ACA length was statistically significant.

Conclusion

Reducing ventricular size appears to be an important factor in addition to reducing intracranial pressure in an attempt to maintain normal cerebral perfusion(CP).

References

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11. Riggo JD, Kolarovszki B, Richterova R, Kolarovszka H, Sutovsky J, Durdikc P. Measurement of the blood flow velocity in the pericallosal artery of children with hydrocephalus by transcranial Doppler ultrasonography-preliminary results. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2007; 151: 285-289.
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15. Miller SP, Cozzio CC, Goldstein RB, Ferriero DM, Partridge JC, Vigneron DB and et al. Comparing the diagnosis of white matter injury in premature newborns with serial MR imaging and transfontanel ultrasonography findings. AJNR Am J Neuroradiol 2003; 24: 1661-1669.


Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014

Nosratollah SEYED SHAHABI, Hossain FAKHRAEE, Mohammad KAZEMIAN, Abolfazl AFJEH, Minoo FALLAHI, Maryam SHARIATI, Fatemeh GORJI

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 43-49
https://doi.org/10.22037/ijcn.v11i1.10989

How to Cite This Article: Seyed Shahabi N, Fakhraee H, Kazemian M, Afjeh A, Fallahi M, Shariati M, Gorji F. Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014. Iran J Child Neurol. Winter 2017; 11(1):43-49.

 

Abstract

Objective

Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes.

Materials & Methods

This cross –sectional prospective study was carried out on the 3281 term infants hospitalized in conventional and NICU of Mofid Children Hospital, Tehran, Iran during 2012-2014. Diagnosis was made by history, physical & neurological examination and accessible diagnostic tests.

Results

Fifty nine hypotonic neonates were identified, forty seven (79.66%) had central hypotonia (Hypoxic ischemic encephalopathy (n= 2), other causes of encephalopathy (n=2), intracranial hemorrhage (n=4), CNS abnormalities (n= 7), chromosomal disorders (n=4), syndromic–nonsyndromic (n=8), and metabolic diseases (n=8). Peripheral hypotonic recognized in 6 infants (10.17%); spinal muscular atrophy (n= 1), and myopathy (n= 5). Six cases (10.17%) remained unclassified. Twelve infants had transient hypotonia. In final study, 18 of 59 infants (30%) died, nearly 90% before one year of age. Twenty-eight (47%) infants found developmental disorders and only 13 (22%) infants achieved normal development in their follow up.

Conclusion

Neonatal hypotonia is a common event in neonatal period. A majority of diagnosis is obtained by history and physical examination. Neuroimaging, genetic and metabolic tests were also important in diagnosis. Genetic, syndromic–nonsyndromic, and metabolic disorders were the most causes of neonatal hypotonia.

References

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6. Richer LP, Shevell MI, Miller SP. Diagnostic profile of neonatal hypotonia; An 11 year study. Peditric Neurol 2001; 25:32-37.
7. Paro–Panjan D. Congenital hypotonia is there an algorithm. J Child Neurology 2004;19 (6):439-442.
8. Griggs RC, Mendell JR, Miller RG. Cngenital myopathies.in: Evaluation and treatment of myopathies. Philadelphia:FA Davis C; 1995:211-46
9. Nada Zadeh and Louanne Hudgings. The Genetic Approach to hypotonia in the neonate. NeoReviews 2009; 10; e600-e607.
10. Bodenstiener JB. The evaluation of the hypotonic infant Seminar in PediatricNeurology 2008;15:10-20.
11. Dubowitz V. Thomas NH. The natural history of type 1(severe) spinal muscular dystrophy. Neuromuscular Disord. 1994;4:497-50212.
12. Jimenez E, Garcia – Cazoria A, Colomer J, Nascimento A, Ieiondo M, Compistol J. Hypotonia in the neonatal period: 12 years experience.[Article in Spanish] Rev Neurol 2013 Jan16:56 (2):72-8.


A Psychometric Study of the Bayley Scales of Infant and Toddler Development in Persian Language Children

Nadia AZARI, Farin SOLEIMANI, Roshanak VAMEGHI, Firouzeh SAJEDI, Soheila SHAHSHAHANI, Hossein KARIMI, Adis KRASKIAN, Amin SHAHROHI, Robab TEYMOURI, Masoud GHARIB

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 50-56
https://doi.org/10.22037/ijcn.v11i1.12056

How to Cite This Article: Azari. N, Soleimani F, Vameghi R, Sajedi F, Shahshahani S, Karimi H, Kraskian A, Shahrokhi A, Teymouri R, Gharib M. A Psychometric Study of the Bayley Scales of Infant and Toddler Development in Persian Language Children. Iran J Child Neurol. Winter 2017; 11(1):50-56.

Abstract

Objective

Bayley Scales of infant & toddler development is a well-known diagnostic developmental assessment tool for children aged 1–42 months. Our aim was investigating the validity & reliability of this scale in Persian speaking children.

Materials & Methods

The method was descriptive-analytic. Translation- back translation and cultural adaptation was done. Content & face validity of translated scale was determined by experts’ opinions. Overall, 403 children aged 1 to 42 months were recruited from health centers of Tehran, Iran during years of 2013- 2014 for developmental assessment in cognitive, communicative (receptive & expressive) and motor (fine & gross) domains. Reliability of scale was calculated through three methods; internal consistency using Cronbach’s alpha coefficient, test-retest and interrater methods. Construct validity was calculated using factor analysis and comparison of the mean scores methods.

Results

Cultural and linguistic changes were made in items of all domains especially on communication subscale. Content and face validity of the test were approved by experts’ opinions. Cronbach’s alpha coefficient was above 0.74 in all domains.

Pearson correlation coefficient in various domains, were ≥ 0.982 in test retest method, and ≥0.993 in inter-rater method. Construct validity of the test was approved by factor analysis. Moreover, the mean scores for the different age groups were compared and statistically significant differences were observed between mean scores of different age groups, that confirms validity of the test.

Conclusion

The Bayley Scales of Infant and Toddler Development is a valid and reliable tool for child developmental assessment in Persian language children.

References

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2. Sajedi F, Doulabi MA, Vameghi R, Baghban AA, Mazaheri MA, Mahmodi Z, et al. Development of Children in Iran: A Systematic Review and Meta-Analysis. Glob J Health Sci 2015 Dec 18;8(8):51251.
3. Soleimani F, Vameghi R, Biglarian A, Rahgozar M. Prevalence of motor developmental disorders in children in Alborz Province, Iran in 2010. Iran Red Crescent Med J 2014 Dec 25;16(12):e16711.
4. Soleimani F, Vameghi R, Biglarian A. Antenatal and Intrapartum Risk Factors for Cerebral Palsy in Term and Near-term Newborns. Arch Iran Med 2013;16(4): 213 – 216.
5. Soleimani F, Vameghi R, Biglarian A, Daneshmandan N : Risk factors Associated with Cerebral Palsy in Children Born in Eastern and Northern Districts of Tehran. Iran Red Crescent Med J 2010; 12 (4):428-432.
6. Fischer VJ, Morris J, Martines J. Developmental Screening Tools: Feasibility of Use at Primary Healthcare Level in Low-and Middle-income Settings. J Health Popul Nutr 2014 Jun;32(2):314-26.
7. Blauw-Hospers CH, Hadders-Algra M. A systematic review of the effects of early intervention on motor development. Dev Med Child Neurol 2005 Jun;47(6):421-32.
8. Nordhov SM, Ronning JA, Dahl LB, Ulvund SE, Tunby J, Kaaresen PI. Early intervention improves cognitive outcomes for preterm infants: randomized controlled trial. Pediatrics 2010 Nov;126(5):e1088-94.
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10. Raju TN, Higgins RD, Stark AR, Leveno KJ. Optimizing care and outcome for late-preterm (near-term) infants: a summary of the workshop sponsored by the National Institute of Child Health and Human Development. Pediatrics 2006;118(3):1207-14.
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13. Torras-Mana M, Guillamon-Valenzuela M, Ramirez-Mallafre A, Brun-Gasca C, Fornieles-Deu A. Usefulness of the Bayley scales of infant and toddler development, third edition, in the early diagnosis of language disorder. Psicothema 2014;26(3):349-56.
14. Gladstone M, Lancaster GA, Jones A, Maleta K, Mtitimila E, Ashorn P, et al. Can Western developmental screening tools be modified for use in a rural Malawian setting? Arch Dis Child. 2008 Jan;93(1):23-9.
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16. Johnson S, Marlow N. Developmental screen or developmental testing? Early Hum Dev 2006 Mar;82(3):173-83.
17. Vameghi R, Sajedi F, Kraskian Mojembari A, Habiollahi A, Lornezhad HR, Delavar B. Cross-Cultural Adaptation, Validation and Standardization of Ages and Stages Questionnaire (ASQ) in Iranian Children. Iran J Public Health 2013 May 1;42(5):522-8.
18. Shahshahani S, Vameghi R, Azari N, Sajedi F, Kazemnejad A. Validity and Reliability Determination of Denver Developmental Screening Test-II in 0-6 Year-Olds in Tehran. Iran J Pediatr 2010 Sep;20(3):313-22.
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22. Godamunne P, Liyanage C, Wimaladharmasooriya N, Pathmeswaran A, Wickremasinghe AR, Patterson C, et al. Comparison of performance of Sri Lankan and US children on cognitive and motor scales of the Bayley scales of infant development. BMC Res Notes 2014 May 16;7:300.
23. Deroma L, Bin M, Tognin V, Rosolen V, Valent F, Barbone F, et al. [Interrater reliability of the Bayley III test in the Italian Northern-Adriatic Cohort II]. Epidemiol Prev 2013 Jul-Oct;37(4-5):297-302.
24. Zakaria S, Seok CB, Sombuling A, Ahmad MS, Hashmi SI. Reliability and Validity for Malay Version of Bayley Scales of Infant and Toddler Development-(Bayley- III): Preliminary Study. International Proceedings of Economics Development & Research 2012;40.
25. Yu YT, Hsieh WS, Hsu CH, Chen LC, Lee WT, Chiu NC, et al. A psychometric study of the Bayley Scales of Infant and Toddler Development - 3rd Edition for term and preterm Taiwanese infants. Res Dev Disabil 2013 Nov;34(11):3875-83.
26. Acton BV, Biggs WS, Creighton DE, Penner KA, Switzer HN, Thomas JHP, et al. Overestimating neurodevelopment using the Bayley-III after early complex cardiac surgery. Pediatrics 2011 Oct;128(4):e794-800.
27. Anderson PJ, De Luca CR, Hutchinson E, Roberts G, Doyle LW. Underestimation of developmental delay by the new Bayley-III Scale. Arch Pediatr Adolesc Med 2010 Apr;164(4):352-6.
28. Campbell SK, Zawacki L, Rankin KM, Yoder JC, Shapiro N, Li Z, et al. Concurrent validity of the TIMP and the Bayley III scales at 6 weeks corrected age. Pediatr Phys Ther 2013 Winter;25(4):395-401.
29. Visser L, Ruiter SAJ, Van der Meulen BF, Ruijssenaars WAJJM, Timmerman ME. Validity and suitability of the Bayley-III Low Motor/Vision version: A comparative study among young children with and without motor and/or visual impairments. Res Dev Disabil 2013 Nov;34(11):3736-45.
30. Soleimani F, Azari N, Vameghi R, Sajedi F, Shahshahani S, Karimi H, Kraskian A, Shahrokhi A, Teymouri R, Gharib M. Is the Bayley Scales of Infant and Toddler Developmental Screening Test, valid and reliable for Persian speaking children? Iran J Pediatr 2016 October; 26(5):83-90.


Inter and Intra Rater Reliability of the 10 Meter Walk Test in the Community Dweller Adults with Spastic Cerebral Palsy

Fariba BAHRAMI, Shohreh NOORIZADEHDEHKORDI, Mehdi DADGOO

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 57-64
https://doi.org/10.22037/ijcn.v11i1.9669

How to Cite This Article: Bahrami F, Noorizadeh Dehkordi SH, Dadgoo M. Inter and Intra Rater Reliability of the 10 Meter Walk Test in the Community Dweller Adults with Spastic Cerebral Palsy. Iran J Child Neurol.Winter 2017; 11(1): 57-64.

 

Abstract

Objective

We aimed to investigation the intra-rater and inter-raters reliability of the 10 meter walk test (10 MWT) in adults with spastic cerebral palsy (CP).

Materials&Methods

Thirty ambulatory adults with spastic CP in the summer of 2014 participated (19 men, 11 women; mean age 28 ± 7 yr, range 18- 46 yr). Individuals were non-randomly selected by convenient sampling from the Ra’ad Rehabilitation Goodwill Complex in Tehran, Iran. They had GMFCS levels below IV (I, II, and III). Retest interval for inter-raters study lasted a week. During the tests, participants walked with their maximum speed. Intra class correlation coefficients (ICC) estimated reliability.

Results

The 10 MWT ICC for intra-rater was 0.98 (95% confidence interval (CI) 0.96-0.99) for participants, and >0.89 in GMFCS subgroups (95% confidence interval (CI) lower bound>0.67). The 10 MWT inter-raters’ ICC was 0.998 (95% confidence interval (CI) 0/996-0/999), and >0.993 in GMFCS subgroups (95% confidence interval (CI) lower bound>0.977). Standard error of the measurement (SEM) values for both studies was small (0.02< SEM< 0.07).

Conclusion

Excellent intra-rater and inter-raters reliability of the 10 MWT in adults with CP, especially in the moderate motor impairments (GMFCS level III), indicates that this tool can be used in clinics to assess the results of interventions.

References

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Neurometabolic Disorder Articles


Feasible Relation between Glutathione Peroxidase and Febrile Seizure

Abolfazl MAHYAR, Parviz AYAZI, Reza DALIRANI, Behzad MOHAMMAD HOSEINI, Mohammad Reza SAROOKHANI, Amir JAVADI, Shiva ESMAEILY

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 65-69
https://doi.org/10.22037/ijcn.v11i1.11458

How to Cite This Article: Mahyar A, Ayazi P, Dalirani R, Mohammad Hoseini B, Sarookhani MR, Javadi A, Esmaeily Sh. Feasible Relation between Glutathione Peroxidase and Febrile Seizure. Iran J Child Neurol. Winter 2017; 11(1):65-69.

Abstract

Objective

We aimed to determine the relationship between serum glutathione peroxidase and febrile seizure.

Materials & Methods

In this case-control study, 43 children with simple febrile seizure (case group) were compared with 43 febrile children without seizure (control group) in terms of serum glutathione peroxidase level, measured by ELISA method. This study was conducted in Qazvin Children Hospital, Qazvin University of Medical Sciences in Qazvin, Iran in 2012-2013. The results were analyzed and compared in two groups.

Results

From 43 children 24 (53%) were male and 19 (47%) were female in children with simple febrile seizure, and 26 (60%) were male and 17 (40%) were female in febrile children without seizure (control group) (P=0.827). Serum glutathione peroxidase level was 166 U/ml (SD=107) in the case group and 141 U/ml (SD=90.5) in the control group of no significant difference.

Conclusion

There was no significant relationship between serum glutathione peroxidase and simple febrile seizure. Thus, it seems that glutathione peroxidase, an essential component of antioxidant system, does not play any role in the pathogenesis of simple febrile seizure.

References

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18. Verrotti A, Basciani F, Trotta D, Pomilio MP, Morgese G, Chiarelli F.Serum Copper, Zinc, Selenium, Glutathione peroxidase and Superoxide dismutase levels in epileptic children before and after 1 year of sodium valproate and carbamazepine therapy. Epilepsy Res 2002;48:71-5.
19. Ben-Menachem E. Kyllerman M, Marklund S. Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies. Epilepsy Res 2000;40:33-9.
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Case Report


Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome

Shadab SALEHPOUR, Feyzollah HASHEMI-GORJI, Ziba SOLTANI, Soudeh GHAFOURI-FARD, Mohammad MIRYOUNESI

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 70-74
https://doi.org/10.22037/ijcn.v11i1.12498

How to Cite This Article: Salehpour Sh, Hashemi-Gorji F, Soltani Z, Ghafouri-Fard S, Miryounesi M. Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. Iran J Child Neurol. Winter 2017; 11(1):70-74.

Abstract

Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 with cardinal features of GOSHS in addition to refractory seizures. Whole exome sequencing in the patient revealed a novel nonsense (stop gain) homozygous mutation in KIAA1279 gene (KIAA1279: NM_015634:exon6:c.C976T:p.Q326X).

Considering the wide range of phenotypic variations in GOSHS, relying on phenotypic characteristics for discrimination of GOSH from similar syndromes may lead to misdiagnosis. Consequently, molecular diagnostic tools would help in accurate diagnosis of such overlapping phenotypes.

References

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3. Drevillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, et al. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet 2013;22(12):2387-99.
4. Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, et al. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Med Genet 2005;77(1):120-6.
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Acute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report

Afagh HASSANZADEH RAD, Vahid AMINZADEH

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 75-77
https://doi.org/10.22037/ijcn.v11i1.10862

How to Cite This Article: Hassanzadeh Rad A, Aminzadeh V. Acute Necrotizing Encephalopathy of Childhood (ANEC): A Case Report. Iran
J Child Neurol. Winter 2017; 11(1):75-77.

Abstract

Acute Necrotizing Encephalopathy of childhood (ANEC) is a specific type of encephalopathy. After viral infection, it can be diagnosed by bilateral symmetrical lesions predominantly observed in thalami & brainstem of infants & children.

Although, it is commonly occurred in Japanese and Taiwanese population. The goal of this article is to report a rare case of ANEC in a 15 months old girl infant from Thaleghani Hospital, Ramian, Gorgan, northern Iran.

References

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Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation

Parvaneh KARIMZADEH, Simin KHAYYATZADEH, Shaghayegh Sadat ESMAIL NEJAD, Masoud HOUSHMAND, MOHAMMAD GHFORANI

Iranian Journal of Child Neurology, Vol. 11 No. 1 (2017), 1 January 2017, Page 78-81
https://doi.org/10.22037/ijcn.v11i1.11820

How to Cite This Article: Karimzadeh P, khayatzadeh kakhki S,Esmail Nejad Sh. S., Houshmand M,Ghofrani M. Ataxia oculomotor apraxia 1 in two siblings of a family:a novel mutation. Iran J Child Neurol.Winter 2017; 11(1):78-81.

Abstract

Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are the most two common and typical manifestations. Oculomotor apraxia is usually seen a few years after the manifestations start. APTX gene on 9p13.3 chromosome is expressed in the cells of all human body tissues and different mutations had been discovered. Here we report two siblings (a girl and a boy) of consanguineous parents visited at Mofid Pediatrics Hospital in 2015, with history of gait ataxia, titubation, tremor, and oculomotor apraxia around five yr old and after that. The brother showed symptoms of disease earlier and more severe than his sister did. After ruling out the common etiologies of progressive ataxia, we did genetic study for AOA1 that showed a homozygous frameshift mutation as c.418_418 del was found. This mutation was not reported before so this was a new mutation in APTX gene.

References

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