use of magnetic resonance imaging to study the brain size of young children with autism

Introduction: Autism spectrum disorder [ASD] is a syndrome of social communication deficits and repetitive behaviors or restricted interests. While the impairments associated with ASD tend to deteriorate from childhood into adulthood, it is of critical importance that the syndrome is diagnosed at an early age. One means of facilitating this is through understanding how the brain of people with ASD develops from early childhood. Magnetic resonance imaging [MRI] is the method of choice for in vivo and non-invasive investigations of the morphology of the human brain, especially when the subjects are children. In this study, we conducted a systematic review of existing structural MRI studies that have investigated brain size in ASD children of up to 5 years old

Methods: In this study, we systematically reviewed published papers that describe research studies in which the brain size of ASD children has been examined. PubMed and Scopus databases were searched for all relevant original articles that described the use of MRI techniques to study ASD patients who were between 1 and 5 years old. To be included in the review, all studies needed to be cohort and case series that involved at least 10 patients. No time limitations were placed on the searched articles within the inclusion criteria. The exclusion criteria were non-English articles, case reports, and articles that described research involving subjects that were not within the qualifying age range of 1-5 years old

Result: After an initial screening process through which the title, abstracts, and full text of the articles were reviewed to confirm they met the inclusion criteria, a total of 10 relevant articles were studied in depth. All studies found that children with ASD who were within the selected age range had a larger brain size than children without ASD

Discussion: The findings of recent studies indicate that the vast majority of ASD patients exhibit an enlarged brain; however, the extent of the enlargement varies from study to study. As such, further studies are required to develop an understanding of the areas of the brain in which enlargement manifests in children with ASD before the age of five and to verify the significance of the prognostic value of MRI as a non-invasive diagnostic technique that can be employed to detect ASD in young children

Conclusion: Based on the extracted data, brain size was related to the emergence and presence of autism in children who were below school age. The use of MRI represents a functional and non-invasive method of confirming ASD in children who have an initial ASD diagnosis

treatable refractory epilepsy: a case report

Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-saving and all complications disappeared rapidly. With this report we tried to explain the clinical manifestations of biotinidase deficiency and show the importance of early diagnosis and treatment in resolving the complications

Refractory seizures in children

Epilepsy is described as a heterogeneous clinical syndrome results from various cerebral destructions. It is categorized to partial and generalized forms. Degree of neural system impairment and affected area determine the severity and pattern of symptoms. Patients might experience sensory, motor, or both signs and symptoms. About 60% of epileptic patients suffer from partial type. It is estimated that up to 30% of epilepsy cases would not be controlled adequately despite sufficient and proper management. Anacyclus pyrethrum, Citrus aurantium var. amara, Paeonia officinalis, Rosa Damascena and Nigella Sativa are some of herbal drugs which have antiepileptic effect. Natural agents are valuable sources to treat chronic diseases and a huge number of world's population believe herbs are effective and safe for daily primary health care needs. There is not enough evidence about their efficacy and safety obtained from randomized control trials

Hippocampal volume in childhood seizures

Many children with hippocampal sclerosis underwent surgery for treatment. Early childhood convulsion occurs in 2 to 4% of population and its prognosis is good in majority of cases. It seems that hippocampal anomalies are common in patients with neocortical epilepsies. The theory of hippocampal sclerosis association with temporal lobe epilepsy has been proposed 100 years ago. Recent studies demonstrated that there was a correlation between memory impairments and prolonged febrile convulsion [PFC], which might be a result of hippocampal injury. Transient hippocampus swelling might happen in complicated early childhood epilepsy or status epilepticus and result in hippocampal sclerosis

Depression and anxiety in Iranian mothers of children with epilepsy

Epilepsy is a common neurological disorder in children. Parents with epileptic children have many psychosocial care needs. So the main goal of this study was to evaluate depression and anxiety in Iranian mothers with epileptic children. We identified 30 mothers of children with epilepsy and 30 mothers of children without epilepsy with children aged between 8 and 12 years who met the study criteria. In all children with epilepsy, the mothers were the main caregivers and all these children lived in two-parent families. Children in the control group were in the same age. Ninety-eight percent of children in the control group lived in two-parent families with the mother as the main caregiver. All mothers fulfilled the Beck Depression Inventory [BDI] and Spielberger State-Trait Anxiety Inventory. According to these data, BDI scores were significantly higher in the mothers of epileptic children [mean of Beck score=16.5] compared to the control group [mean of Beck score=9.8]. The total, Spielberger State-Trait Anxiety Inventory scores for mothers of children with epilepsy were 100.3, 51.7 and 48.6. However, these scores in the control group were 86.9, 45.1 and 41.8. These differences were statistically significant. In a second analysis, using the demographic data, we did not find any statistically significant relation between anxiety or depression and the mothers' job, children's medication and other demographic variables. Neurologists and psychiatrists need to develop better programs for adequate management of psychiatric disorders in mothers with epileptic children

Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR

Autosomal recessive spinal muscular atrophy is a disease resulting from homozygous absence of SMN1 gene in approximately 94% of SMA patients. To identify patients who retained a single SMN1 copy, SMN1 dosage analysis was performed by quantitative Real-time PCR using SYBR green dye. SMN1 dosage analysis results were utilized to identify carriers before offering prenatal diagnosis. Carrier testing was performed for 150 individuals. Copy number of the SMN1 gene was determined by the comparative threshold cycle [Ct] method and human serum albumin gene was used as a reference. Analysis of 150 DNA samples with quantitative PCR determined the number of SMN1 gene copies. Of these, 50 [33.33%] cases had one SMN1 gene copy, 87 [58%] had two copies and 13 [8.66%] did not have any copies of SMN1. The homozygous SMN1 deletion ratio was 0.00 and deletion of one copy of SMN1 gene ratio ranged from 0.3 to 0.58. This report demonstrates modification of risk estimation for the diagnosis and detection of SMA carriers by accurate determination of SMN1 copy number. SMN1 copy number analysis is an important parameter for identification of couples at risk of having children affected with SMA. It also reduces unwarranted prenatal diagnosis for SMA. Furthermore, the dosage analysis might be useful for the counseling of clinically suspected SMA patients with negative diagnostic SMA tests

study on the risk factors for obstetrical brachial plexus palsy

Considerable medical and legal debates have surrounded the prognosis and outcome of obstertrical brachial plexus injuries and obstetricians are often considered responsible for the injury. In this study, we assessed the factors related to the outcome of brachial plexus palsy. During 24 months, 21 neonates with obstetrical brachial plexus injuries were enrolled. Electrophysiology studies were done at the age of three weeks. They received physiotherapy and occupational therapy. They were examined ever 3 months for one year and limbs function was assessed according to Mallet scores; also, maternal and neonatal factors were collected by a questionnaire. There were 10 boys and 11 girls. Of all, 76.2% had Erb's palsy, 19% had total brachial palsy and 4.8% had klumpke paralysis. Risk factors including primiparity, high birth weight, shoulder dystocia, and prolonged second stage of labor were assessed. Electrophysiology studies showed neuropraxia in 52.4% and axonal injuries in 42.9% of the patients. At the end of the first year, 81% of the patients had functioned recovery around grade III or IV of Mallet scores. There were only significant relationships between functional improvement and neurophysiologic findings. Outcome of obstetrical brachial injuries has a close relationship to neurophysiologic study results than other risk factors

Acute Rheumatic Fever in the North East of Iran: a Study of 80 Cases

To evaluate the frequency, clinical presentation and cardiac involvement of children with RF in the North-East of Iran. A case series analysis was conducted on 80 patients with acute rheumatic fever [ARF], who were hospitalized at Ghaem hospital in Mashad between 1994 and 2000, were studied. Laboratory tests and results from echocardiographic examinations, and clinical findings were analyzed. All patients received standard care for children with ARF. The X[2] test was used for comparison of binary data. When compared to similar studies from developed countries, our study demonstrates a decreased frequency of RF in North-East Iran over the past few years. However, it is still a major health problem and the most common cause of acquired heart disease in childhood. The distribution of the major modified Jones criteria in our study is slightly different from that described in the literature, with a higher incidence of carditis. It appears that carditis is endemic in this region. Considering the high morbidity and complications involved in this disease, there is an immediate need for effective preventive programs for the initiating cause streptococcal infections, especially since it is treatable