Duchenne muscular dystophy: A short review and treatment update

Haluk Topaloglu

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v16i1.33282

After advances in clinical care and newer efforts in therapeutic approaches, life span has lengthened in Duchenne muscular dystrophy (DMD). Starting from eary 1980s, each decade lead to a five year gain. DMD is not simply a monogenic X-linked disorder, it is a multisystemic condition. Pulmonary, cardiac, endocrine, gastrointestinal, and bone health aspects need careful monitoring along with pyschology, physiotherapy, social and family as a whole.
Molecular treatments are becoming facts, which some are already at hand. Some others are expected to be available within the next two years.

The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients

Negin Ahmadnia, Mehran Beiraghitoosi, Ehsan Ghayour karimiani , Farah Ashrafzadeh, Mohammad Faraji rad

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i2.26401

 


Objective


Whole exome sequencing (WES) is a new molecular diagnostic test, used in pediatric medicine, especially pediatric neurology. The diagnostic yield of WES is higher than conventional methods. Therefore, this study aimed to assess the diagnostic yield of WES in a pediatric neurology clinic and to report positive results.


Materials & Methods


This retrospective study was performed on patients, presenting to the pediatric neurology clinic of Ghaem Hospital in Mashhad, Iran, between March 2015 and March 2017, with various neurological disabilities and unrevealing workup before WES. The patients’ clinical features and molecular diagnoses based on the WES


Results


were reported in this study. The overall diagnostic yield of WES was 82.71% (67/81 patients). Two patients were excluded for the lack of data. Sixty-five patients with pathogenic or possibly pathogenic variants exhibited various abnormalities, including intellectual disability/developmental delay (n=44), seizure (n=27), developmental regression (n=11), myopathy (n=9), microcephaly (n=8), neuropathy (n=2), autism spectrum
disorder (n=2), and neuromuscular disease (n=2). Overall, 93.84% of the patients were born to consanguineous parents. Also, 62 patients had an autosomal recessive disorder, and three patients had an autosomal
dominant disorder.


Conclusion


The present findings indicating the high diagnostic yield of WES, besides the important role of this test in determining the etiology of non-specific and atypical presentations of genetic disorders, support the use of WES in pediatric neurology practice.

Neurodevelopmental Outcomes of Infants with Benign Enlargement of the Subarachnoid Space

Jafar Nasiri, Yahya Madihi, Azadeh Sadat Mirzadeh, Mahdi Mohammadzadeh

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i1.25309

 


Objective
Benign enlargement of the subarachnoid space (BESS) is the most common cause of macrocephaly in infants. This study aimed to evaluate the neurodevelopmental outcomes in infants with BESS.


Materials & Methods


In this follow-up study, all records of infants diagnosed with BESS in 2012-2016 were assessed. A clinical follow-up examination was carried out at 6, 12, 18, and 24 months of age to assess the macrocephaly outcomes. Denver Developmental Screening Test-II (DDST-II) was used for evaluating the psychomotor development of infants at 24 months of age. All data were entered in SPSS Version 13, and descriptive statistics were measured.


Results


Out of 32 infants included in this study, 28 (87.5%) were boys. Five cases of prematurity history (15.6%), and 23 cases of macrocephaly in the family (71.9%) were recorded. The mean age of BESS diagnosis was 6.8 months (SD=3.2). subdural hematoma was reported in one infant (3.1%). Also, 28 infants showed macrocephaly at 18 months of age (83.3%). Seven patients had developmental delay, according to DDST-II (22%). The mean head circumference at birth and six months of age was significantly greater in infants with developmental delay compared to those with normal development. There was a significant difference between the mean head circumference at birth (P=0.05) and the mean head circumference at six months of age (P=0.02).


Conclusion


Developmental delay is frequent in BESS infants, especially those with macrocephaly at birth and six months of age, and requires medical attention

Brainstem Representation of Auditory Overshoot in Guinea pigs, using Auditory Brainstem Responses

hassan haddadzade niri, akram pourbakht, nariman rahbar, hamid haghani

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i2.26241

 


Objective


It is easier for a listener to detect a brief tonal signal presented in a longer masking noise by increasing the delay between the signal and the masker. This phenomenon (overshoot) is influenced by a reduction in cochlear amplification and to date, there is no objective tool to investigate it. Therefore, a different paradigm of the auditory brainstem response (ABR) was utilized to measure auditory overshoot. It was assumed that increasing the delay onset time (DOT) between a signal and a masker reduces the latencies of waves I and III.


Materials & Methods


Sixteen normal young male guinea pigs were tested. A tone burst stimulus (signal: 16 kHz, 5ms in duration) and wide-band noise (masker: 0.1-8.0 kHz, 100ms in duration) at three DOTs were used. To diminish the effect of the noise on waves, waveforms were subtracted from those derived from the noise burst alone. The absolute latency of the waves I and III, inter-peak latency of the waves I-III, and amplitude ratio of the waves III/I were compared for the 0, 30, and 100ms DOTs and five signal-to-noise ratios.


Results


The latencies of increased from the 0 to 30ms DOT and then decreased from the 30 to 100ms DOT (p < 0.001). No significant changes were observed in the latency waves at the 100ms DOT compared to the 0ms DOT (p > 0.005). Moreover, there were no significant differences between the three DOTs regarding the inter-peak latency and amplitude ratio of the waves (p <0.005).


Conclusion


The study results showed an overshoot-like electrophysiological effect using ABR. Therefore, an objective test was used to investigate auditory cochlear gain.

Is Serum TGF-β1 and TGF-β2 levels Correlated to Children with Autism Intensity?

Jamshid yousefi, Mohammad raze Khakzad, Maryam Hojati, Seyed Ali Ebrahimi, Mitra Hosseinpour, javad Akhondian

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i1.21826

Objective


Transforming growth factor-beta (TGF-β), a group of multifunctional growth factors, plays an important role in the neuron survival and neurodevelopmental functions. Some studies have evaluated the correlation between TGF-β1 and TGF-β2 abnormalities and autism spectrum disorders. In this study, we compared the TGF-β1 and
TGF-β2 levels between autistic and intellectually normal individuals.


Materials & Methods


The study population consisted of 39 autistic and 30 age-matched intellectually normal individuals (control group). Blood samples were taken from all individuals, and all patients were divided into 2 groups (mild-to-moderate and severe) according to the childhood autism rating scale. The cytokines levels were measured by Enzyme Linked Immunosorbent Assay (ELISA).


Results


The mean concentration of TGF-β1 was significantly lower (P < 0.0001) in children with autism compared to the control group (25.3 ± 6.5 versus 35.1 ± 9.4 ng/mL, respectively). Also, the mean concentration of TGF-β2 in children with autism (32.35± 7.75 ng/mL) was higher compared to those in the control group (30.47± 4.36 ng/mL); however, this difference did not reach statistical significance (P = 0.21). A positive correlation was observed between TGF-β1 concentration and autism severity (r = 0.41; P = 0.02), whereas a negative correlation was found between TGF-β2 concentration andautism severity (r = -0.41; P = 0.02).


Conclusion


The results of the present investigation suggest that there is a decrease in the levels of TGF-β1 in the serum of patients with autism and this cytokine may be effective in the treatment of the pathophysiological aspects of autism.

The first febrile seizure; predisposing factors and recurrence rate

Alinaghi Kazemi, Reza Shervin Badv, Ramazan Fallah, Ali Piri, Leila Tahernia, Mohammad Vafaee shahi

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i1.15644

 


Objective


Febrile seizure is the most common worrisome neurologic disorder in children in terms of parental point of view. The purpose of this study was to answer distressing parents’ questions about the prevalence and possibility of febrile seizure recurrence.


Materials & Methods


140 patients who were admitted due to the first febrile seizure in the six months (March up to September) of the year 2015 were enrolled to this study. Exclusion criteria include central nervous system infection, non-confirmed febrile seizure and lack of parental acceptance for long-term inclusion in this study. All children were followed in terms of second febrile seizure during one year follow-up from the time of first febrile seizure. (3 sentences were deleted).


Results


Recurrence of febrile seizure was 25.7 % during one-year follow-up. Significant risk factors for recurrence include: age less than one year old, male gender, seizure with low level of fever, family history of epilepsy, family history of febrile seizure, complex febrile seizure (focal and repeated in 24 hours), seizure duration more than 15 minutes and parental indifference to the onset of fever in their children before seizure occurrence. Although duration of fever before seizure, failure to thrive, positive history of admission in neonatal period, dystocia at
birth delivery and children with day care staying were associated with greater febrile seizure recurrence; but, they did not have significant relationship with recurrence rate. Prophylaxis with benzodiazepine reduced the recurrence rate.


Conclusion


Chance of febrile seizure recurrence in one-year follow-up increased in presence of risk factors expressed in finding part. parental indifference to the onset of fever in their children that is starting before seizure was a considerable risk factor in terms of recurrence prevalence. We recommended to emphasis on parental education about this new finding as a risk factor for febrile seizure in order to prevent its future recurrence.

L-carnitine versus Propranolol for pediatric migraine prophylaxis

Laya Amini, Omid Yaghini, Mohammadreza Ghazavi, Nahid Aslani

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i2.25558

 


Objective


Carnitine plays a significant role in fatty acid transportation in mitochondria and has been shown to have a prophylactic effect on adult migraine. The aim of this randomized controlled trial was to compare and evaluate the effects of L-carnitine supplementation versus propranolol in the prevention of pediatric migraine.


Materials & Methods


A total of 60 pediatric patients with episodic migraine were randomly allocated to 2 independent groups to receive either 50 mg/kg/day L-carnitine or 1 mg/kg/day propranolol as a prophylactic drug. Frequency, severity, and duration of migraine attacks and headache disability based on the Pediatric Migraine Disability Assessment Score (PedMIDAS) were studied at the baseline and after 2, 4, and 12 weeks.


Results


A total of 56 patients were evaluated in the study: 23 girls (41%) and 33 boys (59%) with a mean age of 9.7 ± 2.1 years. Frequency of migraine headaches per month reduced from 11.4 ± 7.1 to 5.34 ± 2.4 in the L-carnitine group and from 10.7 ± 6.2 to 4.96 ± 3.9 in the propranolol group by the end of the study. Headache severity score was also reduced from 19.38 ± 14 to 2.88 ± 7.4 and from 12.92 ± 13 to 0.82 ± 1.3 in the L-carnitine and propranolol groups, respectively. We found a significant decrease in frequency, severity, and duration of headache attacks in both groups (P < 0.01). No significant difference was observed between the efficacies of the 2 drugs.


Conclusion


This study concluded that L-carnitine supplementation can play a prophylactic role in the management of pediatric migraine.

Cerebral Infiltrative Lesion and Chronic Clinical Course of the Rosai-Dorfman Disease: Case Report

shiva nazari, Parastoo Mollaei Tavana, Mitra Khalili

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i2.24120

 


Rosai-Dorfman disease (RDD) is a rare disorder of an unknown etiology, characterized by a benign histiocytic proliferation in the lymph nodes, as well as the extranodal sites. Painless bilateral lymphadenopathy is the classic presentation of RDD in the majorityof patients. The exteranodal disease involves the skin, soft tissues, bones, the genitourinary system, the lower respiratory tract, and the central nervous system. A seven-year-old boy was referred to our hospital with left parietal swelling, headache, fever, imbalance, weight loss, and speech and walking impairments. In early examinations, he showed a hyposignal infiltrative lesion in the lateral ventricle and the choroid plexus, expanding to the subcortical white matter of the bilateral temporooccipital areas. After surgery and sampling, he was diagnosed with cerebral RDD.


According to his history, he had bilateral cervical lymphadenopathy at the age of two years, femoral soft tissueinvolvement at the age of three, and a skin disorder that improved with local treatments at the age of five. However, at the time of referral to the hospital, there were no other symptoms in other areas, except for brain symptoms. In the differential diagnosis of brain lesions with specific borders in high-contrast radiological views, the probability of RDD should be considered, similar to meningioma.


The presence of painless and extensive bilateral cervical lymphadenopathy can improve the diagnosis of this disease. Isolated brain involvement in RDD is very rare, and it can be seen in less than 5% of cases. Nevertheless, by early diagnosis and intervention, the risk of complications is reduced, and the prognosis is improved.

The psychological consequences of COVID-19 on children’s world

Reza Sinaei, Sara Pezeshki, Mostafa Yazdani, Fatemeh Sabzevari, Mehrnoush Hassas Yeganeh

Iranian Journal of Child Neurology, Vol. 15 No. 2 (2021), 8 March 2021
https://doi.org/10.22037/ijcn.v15i1.31668

Dear Editor-in-Chief
The world’s countries are presently shaken by a novel member of the coronavirus family. Apparently, a very tiny creature has been commissioned to carry out a large mission. This issue causes us to experience a universal life-threatening condition that is changing the life framework for humans. It appears that humans are showing a more real picture of themselves in the current turmoil.