Cockayne syndrome is a rare autosomal recessive disease, with heterogeneous presentation which involves many organ systems and is characterized by failure to thrive, microcephaly, pigmentary ...retinopathy, and photo-sensitivity. The face of the patients resembles the face of the birds. There are 3 subtypes of this disorder. Type I, or classic Cockayne syndrome, presents in childhood with characteristic facies and somatic features that occur late in the first decade of life. Type II, or severe congenital or neonatal form, presents at birth with accelerated facial and somatic features. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood. Medical care for Cockayne syndrome patients includes photo-protection with sunscreens and clothing. The prognosis for Cockayne syndrome is poor, with death occurring in the second or third decade of life. A genetic counselor should educate the parents of the Cockayne syndrome patient.
Background: There are important cognitive issues in patients with epilepsy, which can be referred to as impairment in executive functions such as attention. Objectives: This research aims to compare ...the effectiveness of computer-based cognitive rehabilitation programs and task-oriented cognitive rehabilitation programs on attention in children with epilepsy in Tehran. Methods: The present research was a semi-experimental study with a pre-test and post-test design with a control group. The statistical population of the study included all children with epilepsy who were referred to the neurology clinic of Mofid Children's Hospital in 2021. Using the purposeful sampling method, 45 eligible children were included in the study and were randomly divided into 2 experimental groups and 1 control group (15 people in each group). The Integrated Visual and Auditory Continuous Performance Test (IVA2) of Sohlberg and Mateer (2001) was used for data collection. The experimental groups underwent the intervention of the computerized cognitive rehabilitation program of the Cambridge Neuropsychological Test (1980) (12 sessions of 45 minutes) and the task-oriented cognitive rehabilitation program (12 sessions of 45 minutes). The control group did not receive any intervention. SPSS 20 software was used for data analysis. Univariate covariance analysis (ANCOVA) was performed using a significance level of 0.05. Results: The results demonstrated that both computer-based cognitive rehabilitation programs and task-based cognitive rehabilitation were effective in increasing the attention of epileptic children in Tehran (P < 0.001). There was no significant difference between the effectiveness of computer-based cognitive rehabilitation programs and task-based cognitive rehabilitation in increasing the attention of epileptic children (P = 0.67). Conclusions: It can be concluded that computer-based and task-oriented cognitive rehabilitation programs can be used to increase attention and executive functions in children with epilepsy.
Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The ...main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There is no statistical significant difference in prevalence between males and females. We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation. In neck sonography, we found asymmetry of sternocleidomastoid muscles. In conclusion, we describe torticollis as a presentation of Russell-Silver syndrome.
Inflammatory bowel disease (IBD) has both intestinal and extra intestinal manifestations. Inflammatory bowel disease (IBD) is a known risk factor for cerebral venous thrombosis (CVT) event in adult ...and children. The precise mechanism of thrombotic event is not known in patient with IBD. We report a case of ulcerative colitis with CVT during admission for acute relapse. 12 years old boy known case of ulcerative colitis since 12 months ago admitted in children hospital because of bloody diarrhea, recurrent colicky abdominal pain. At the third day of admission patient had severe headache. Level of consciousness has decreased gradually during 12 hours. Child has been aphasic later. One episode of tonic clonic seizure has happened 18 hours after the onset of headache. Neurologic examination showed right hemiparesis. Physical examinations including blood pressure and fundoscopy were unremarkable in last admission. Brain CT shows intraparanchymal hemorrhage in left temporal lobe with asymmetric increased density in left lateral sinus. The results of MRI has shown abnormal hyperintense signal in left lateral sinus in T1WI and T2WI that is compatible with thrombosis (loss of signal) in MRV. LMW heparin was administered according to consultation with hematologist and continued post discharge. Child condition has improved slowly and neurologic evaluation was normal after 3months. Cerebrovascular events, such as cerebral venous thrombosis (CVT) or cerebral arterial infarction (CAI), are rare extraintestinal manifestations of PIBD but probably the most common forms of thromboembolism in children. Probably, treatment of CVT with anticoagulants is the best way of management. A comprehensive study is essential to understand the choice, efficacy, duration, and primary and secondary prophylaxis protocol with anticoagulants.
Parental pain catastrophizing is a construct recognized to have a significant impact on experience of pain in both children and parents. This research aimed to investigate the probable relationship ...of parental pain catastrophizing with the parent's reports of children's anxiety, depression and headache severity amongst Iranian parents of children with chronic or recurrent headache.
This study was conducted in 2015-16, in two pediatric neurological centers located in Tehran, Iran; with a convenience sampling method and 212 parents (120 mothers and 92 fathers) of 132 children with a chronic or recurrent headache (migraine and tension-type). They completed the Pain Catastrophizing Scale; Numeric Pain Rating Scale, asking for the average of pain severity in last three months before the research, and the Anxiety and Depression subscales of the Children Behavioral Check List.
The mean age of parents was 35.41 yr (SD=5.58) and the mean age of children was 9.83 yr (SD=2.77). A total of 72 girls and 60 boys participated in this study with a mean pain severity for headache in last three months before the research of 4.99 (SD=2.63). Probable sex differences according to parental pain catastrophizing, pain severity, anxiety, and depression were assessed amongst parents. In the next step, the predictability of pain severity from parental pain catastrophizing was evaluated. Results indicated a significant relationship in maternal pain catastrophizing and estimates of pain intensity by mothers.
These findings represent the importance of parent's especially mother's cognitive factors affecting their reports of their children's pain and related emotional disturbances.
The current multi-center, randomized, double-blind study was conducted among children with cerebral palsy (CP) to assess the safety and efficacy of umbilical cord blood mononuclear cell (UCB-MNC). We ...performed the diffusion tensor imaging to assess the changes in the white matter structure.
Males and females aged 4 to 14 years old with spastic CP were included. Eligible participants were allocated in 4:1 ratio to be in the experimental or control groups; respectively. Individuals who were assigned in UCB-MNC group were tested for human leukocyte antigen (HLA) and fully-matched individuals were treated with UCB-MNCs. A single dose (5 × 10
/kg) UCB-MNCs were administered via intrathecal route in experimental group. The changes in gross motor function measure (GMFM)-66 from baseline to one year after treatment were the primary endpoints. The mean changes in modified Ashworth scale (MAS), pediatric evaluation of disability inventory (PEDI), and CP quality of life (CP-QoL) were also evaluated and compared between groups. The mean changes in fractional anisotropy (FA) and mean diffusivity (MD) of corticospinal tract (CST) and posterior thalamic radiation (PTR) were the secondary endpoints. Adverse events were safety endpoint.
There were 72 included individuals (36 cases in each group). The mean GMFM-66 scores increased in experimental group; compared to baseline (+ 9.62; 95%CI: 6.75, 12.49) and control arm (β: 7.10; 95%CI: 2.08, 12.76; Cohen's d: 0.62) and mean MAS reduced in individuals treated with UCB-MNCs compared to the baseline (-0.87; 95%CI: -1.2, -0.54) and control group (β: -0.58; 95%CI: -1.18, -0.11; Cohen's d: 0.36). The mean PEDI scores and mean CP-QoL scores in two domains were higher in the experimental group compared to the control. The imaging data indicated that mean FA increased and MD decreased in participants of UCB-MNC group indicating improvements in white matter structure. Lower back pain, headaches, and irritability were the most common adverse events within 24 h of treatment that were related to lumbar puncture. No side effects were observed during follow-up.
This trial showed that intrathecal injection of UCB-MNCs were safe and effective in children with CP.
The study was registered with ClinicalTrials.gov ( NCT03795974 ).
Movement disorders are common neurologic disturbances in childhood. There are two major types of movement disorders. Hypokinetic disorders are with paucity of voluntary movements and are very ...uncommon in pediatric age group. Hyperkinetic movement abnormalities are very common in children and defined as abnormal repetitive involuntary movements. Movement disorders in childhood and even in adolescents are different in etiology, timing, treatment and prognosis versus adulthood movement abnormalities. In this brief article, we reviewed common types of hyperkinetic abnormal movements in children and adolescents with emphasis on etiologies, new classifications and recent treatment strategies.
Movement disorders are common neurologic disturbances in childhood. There are two major types of movement disorders. Hypokinetic disorders are with paucity of voluntary movements and are very ...uncommon in pediatric age group. Hyperkinetic movement abnormalities are very common in children and defined as abnormal repetitive involuntary movements. Movement disorders in childhood and even in adolescents are different in etiology, timing, treatment and prognosis versus adulthood movement abnormalities. In this brief article, we reviewed common types of hyperkinetic abnormal movements in children and adolescents with emphasis on etiologies, new classifications and recent treatment strategies.
Acute seizure attack is a stressful experience both for health care personnel and parents. These attacks might cause morbidity and mortality among patients, so reliable methods to control the seizure ...preferably at home should be developed. This study was performed to measure the time needed to control seizure attacks using intranasal midazolam compared to the common treatment (intravenous diazepam) and to evaluate its probable side effects.
This study was conducted as a not blind randomized clinical trial among 60 patients coming to Imam Ali Hospital, Zahedan, Iran. The patients were 2 months to 15 years old children coming to our emergency department suffering from an acute seizure episode. Intranasal midazolam was administered 0.2 mg/kg equally dropped in both nostrils for case group and intravenous diazepam was administered 0.3mg/kg via IV line for control group. After both treatments the time needed to control the seizure was registered by the practitioner. Pulse rate and O2 saturation were recorded at patients' entrance and in minutes 5 and 10 after drug administration.
The time needed to control seizure using intranasal midazolam (3.16±1.24) was statistically shorter than intravenous diazepam (6.42±2.59) if the time needed to establish IV line in patients treated by intravenous diazepam is taken into account (P<0.001). The readings for O2 saturation or heart rate did not indicate a statistically significant difference between two groups of patients either at entrance or 5 and 10 minutes after drug administration.
Considering the shorter time needed to control acute seizure episodes compared to intravenous diazepam and its safety record, intranasal midazolam seems to be a good candidate to replace diazepam, as the drug of choice, in controlling this condition.
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