Background: Autism spectrum disorder (ASD) refers to a group of complex neurodevelopment disorders characterized by repetitive and characteristic patterns of behavior and difficulties with social communication and interaction. In Bangladesh, autism in children is a significant burden of disease. Early identification of ASD could improve quality of life. The study has explored at the prevalence of ASD among rural community children aged between 18-36 months. Methods: A cross sectional study was conducted among the 5286 children aged between 18-36 months in a rural community. Household level data was collected using screening tool MCHAT. Primarily screening positive 66 children were invited for final diagnosis in a health camp. Diagnosis was made by different staging started from primary screening, followed by validation using MCHAT and flash card. Final diagnosis was made by the paediatric neurologists, child clinical psychologists and development therapist using diagnostic tools (DSM-IV & ADOS). Results: 04 children were diagnosed with autism spectrum disorder (ASD). Prevalence of the ASD in rural community was found 0.75/1000 children. Among the four ASD cases three were boys and one was girl and age range was between 20- 30 months. Whereas, the highest prevalence rate found was for the cerebral palsy which was 5.6/1000 children and Developmental delay (2.6/1000) was the next to that. Conclusions: Age specific autism (18-36 months) in children is found higher in rural community of Bangladesh. In order to get more comprehensive information on autism in other age groups of children in rural community, further study is required. Early detection in rural community could help the policy makers to decentralization of health services among the ASD children in rural community.

Objective: To determine the indication and complications of exchange transfusion (ET) performed for neonatal hyperbilirubinaemia. Methods: The medical records of infants < 28 days old who required exchange transfusion (ET) due to neonatal jaundice in Special Care Baby Unit (SCABU), BIRDEM hospital from January 2009 to April 2010 were retrospectively reviewed. Results: Exchange transfusion was performed in 30 neonates during the study period. Indications of exchange transfusion were ABO incompatibility (30.0%), Rh incompatibility (13.3%), septicaemia (6.6%) and in majority causes, were unidentified (50%). Most common complication were thrombocytopenia (33.3%) hyperkalaemia (20%), hypocalcaemia (16.7%) Conclusion: Indication of ET was unidentified in majority cases and among identified cases most common causes was ABO incompatibility. Adverse events were common after exchange transfusion.DOI: http://dx.doi.org/10.3329/bjch.v36i1.13029Bangladesh J Child Health 2012; Vol 36 (1): 16-19

Febrile seizures (FS) are the most common convulsive event in children. This condition has been described since the time of Hippocrates. The etiology of the febrile seizures are still unclear. In FS, there is a strong familial predisposition. This does not exclude infections as a causative factor because subtle genetic polymorphisms have been demonstrated to affect the course of infections. In an earlier review of the world literature (1924-1964), except for roseola infantum, viral infections as a cause of febrile seizures were rarely diagnosed. Reports of viral infections in the etiology of febrile seizures have increased in number in the past decade. In the first half of the twentieth century, infections identified with febrile seizures were mainly upper respiratory in type and the etiologic agent was unknown or bacterial. We review i) the role of infection – viral and bacterial; ii) the role of genetic and environmental factors; iii) the role of electrolyte and metabolic factors; and iv) the role of cytokines. With the help of new diagnostic tools such as PCR, the viral agents are detected in CSF far more often than previously thought, even in the absence of pleocytosis of the CSF. This makes it difficult to distinguish FS from acute encephalitis. FS may be caused by neuroinvasion or intracerebral activation of viruses. By reviewing etiology and risk factors of FS we can identify the points to be focused in therapeutic interventions and trials and also the fields of future studies will be explored. DOI: http://dx.doi.org/10.3329/bjch.v34i3.10361 BJCH 2010; 34(3): 103-112

Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify clinically relevant CNVs, genes and their phenotypic characteristics in an ethnically underrepresented homogenous population of Bangladesh.Methods: We have conducted chromosomal microarray analysis (CMA) for 212 NDD patients with male to female ratio of 2.2:1.0 to identify rare CNVs. To identify candidate genes within the rare CNVs, gene constraint metrics [i.e., “Critical-Exon Genes (CEGs)”] were applied to the population data. Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) was followed in a subset of 95 NDD patients to assess the severity of autism and all statistical tests were performed using the R package.Results: Of all the samples assayed, 12.26% (26/212) and 57.08% (121/212) patients carried pathogenic and variant of uncertain significance (VOUS) CNVs, respectively. While 2.83% (6/212) patients’ pathogenic CNVs were found to be located in the subtelomeric regions. Further burden test identified females are significant carriers of pathogenic CNVs compared to males (OR = 4.2; p = 0.0007). We have observed an increased number of Loss of heterozygosity (LOH) within cases with 23.85% (26/109) consanguineous parents. Our analyses on imprinting genes show, 36 LOH variants disrupting 69 unique imprinted genes and classified these variants as VOUS. ADOS-2 subset shows severe social communication deficit (p = 0.014) and overall ASD symptoms severity (p = 0.026) among the patients carrying duplication CNV compared to the CNV negative group. Candidate gene analysis identified 153 unique CEGs in pathogenic CNVs and 31 in VOUS. Of the unique genes, 18 genes were found to be in smaller (&lt;1 MB) focal CNVs in our NDD cohort and we identified PSMC3 gene as a strong candidate gene for Autism Spectrum Disorder (ASD). Moreover, we hypothesized that KMT2B gene duplication might be associated with intellectual disability.Conclusion: Our results show the utility of CMA for precise genetic diagnosis and its integration into the diagnosis, therapy and management of NDD patients.

Background:Migraine hampers child's life through school absence, limitation of home and social activities. The goal of prophylactic (preventive) therapy is to reduce headache frequency, headache days, and headache severity with minimum side effects.Objective: To evaluate the efficacy and tolerability of levetiracetam compared to flunarizine as prophylactic treatment of Migraine in children.Methods: This prospective study was carried out in the outpatient department of a tertiary care hospital in Bangladesh. A total of 105 children aged 6-15 years, diagnosed as migraine without aura, were enrolled. Patients were treated with flunarizine or levetiracetam for three months. Headache disabilities were evaluated at baseline and at the end of three months. Results:In flunarizine group, 54 children and in levetiracetam group, 51 children were enrolled. Among them thirty nine children in flunarizine group and 36 children in levetiracetam group completed the study. Headache frequency, headache days, VAS (Visual Analogue Scale) score and PedMIDAS (Paediatric Migraine Disability Assessment Score) score were evaluated at baseline and during the follow up. After three months, headache frequency, headache days, pain severity (Visual Analogue Scale score) reduced significantly compared to baseline (p<0.05). PedMIDAS score was also reduced from 60.35(±16.36) to 30.13(±14.28) in flunarizine group and from 64.25(±19.63) to 25.91(±18.6) in levetiracetam group (p<0.05). Some minor side effects were also reported by both groups, but were well tolerated by the patients and need not withdrawal of medication. Conclusion: Levetiracetam is as effective as flunarizine in paediatric MigraineProphylaxis.

Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in plasma, various tissues of body and central nervous system. It causes demyelination and adrenocortical insuciency. High levels of very long chain fatty acids are found in tissues and body fluids, resulting from their impaired ?-oxidation in the peroxisomes. The most common form of ALD is an X-linked disorder with various presentations which is caused by mutations in the ABCD1 gene located on Xq28. The gene encodes a transmembrane transporter involved in the importation of very long chain fatty acids into peroxisomes. The phenotypic presentations are highly variable, which may lead to delayed recognition and misdiagnosis, as attention deficit and/or hyperactivity disorder in boys or multiple sclerosis in adults. The most common clinical picture is of a degenerative neurologic disorder appearing in childhood or adolescence and progressing to severe dementia and deterioration of vision, hearing, speech, and gait and death occur within a few years. Many patients have evidence of adrenal insufficiency at the time of neurologic presentation. Hydrocortisone and mineralocorticoid are necessary to treat adrenal insufficiency. High doses of hydrocortisone preoperatively and during recovery are needed for surgery and other stressful illnesses in affected individuals.Here, we described two patients with childhood onset ALD with clinical and laboratory features to illustrate the wide clinical variability of this condition.Bangladesh Med J. 2015 Sep; 44 (3): 168-171

<p>Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfa­tase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are abundant in myelin of neurons. A pathological hallmark of MLD is demyelination and neurodegeneration.</p><p>A case of the juvenile form of MLD diagnosed by typical history, brain imaging and enzyme assay, is being reported here.</p>

Aicardi Goutieres Syndrome is an early-onset leukoencephalopathy with a presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. It is an inflammatory disorder resulting from mutation of multiple genes. Majority of the affected individuals experience physical as well as intellectual disability. Here we discuss a case of A 2-year old girl of consanguineous marriage diagnosed as Aicardi Goutieres Syndrome who was presented with the sudden loss of motor and cognitive skills after an acute febrile illness. This syndrome was diagnosed by clinical exome sequencing and RNAEH 2A mutant gene identification. J Bangladesh Coll Phys Surg 2022; 40: 132-135