Acute necrotizing encephalopathy of childhood secondary to dengue infection: A case report from Pakistan

Acute necrotizing encephalopathy of childhood (ANEC) is a rare condition mainly affecting children with a distinct clinico-radiologic pattern. Initially thought to be secondary to respiratory viral infections, there have been more insights to the pathogenesis of ANEC including genetics. We present a case of a girl who developed this condition with classical clinico-radiologic findings of ANEC secondary to severe dengue infection and could not survive. We report this case with the aim to raise awareness about this fatal complication of dengue infection as dengue has become a global health-care problem

Frequency and outcome of acute neurologic complications after congenital heart disease surgery

Objectives: To determine the frequency and immediate outcome of acute neurologic complications (ANCs) in children undergoing congenital heart surgery (CHS).Materials and Methods: Inthis retrospective study, all patients undergoing CHS at our hospital from January 2007 to June 2016 were included. Patients were followed up for the development of seizures, altered level of consciousness (ALOC), abnormal movements, and stroke. Results are presented as mean with standard deviation and frequency with percentages.Results: Of 2000 patients who underwent CHS at our center during the study, 35 patients (1.75%) developed ANC. Seizures occurred in 28 (80%), ALOC in 5 (14%), clinical stroke in 2, brain death in 6 patients. Antiepileptic drugs (AEDs) were started in 32 patients, of which 13 patients required more than one AED. Mean length of stay was 10 ± 7.36 days. Of 35 patients who developed ANC, 7 expired during the study.Conclusion: Neurological complications are scarce but significant morbidity after CHS at our center

Clinical profiles and outcomes of children admitted to the pediatric intensive care unit from the emergency department

The aim of this study was to describe clinical profiles and outcomes of children admitted directly from the Emergency Room (ER) to the Pediatric Intensive Care Unit (PICU) of academic hospital. The medical records of all children (1 month to 16 years) admitted in PICU from ER, from January 2011 to December 2012 were reviewed. Of the 26,774 patients seen in the ER during the study period, 468 (1.7%) were admitted to the PICU which constituted about 41.5% (468/1127) of all the total PICU admissions. Sixty three percent (n=294) were under-five; males were 60.9% (285), 82.3% (385) were in medical category. Neurological and respiratory illnesses were the most common groups (\u3e 50% of all ER admissions). Multi-organ dysfunction syndrome and co-morbidity were present in 25.2% (n=118) and 23.5% (n=110) respectively. The mean length of stay was 5 ± 3.7 hours. The case-fatality rate was 20.3% (n=95) as compared to the overall PICU mortality rate of 11.9% (n=135)

Neurodevelopment assessment of small for gestational age children in a community-based cohort from Pakistan

Background: Children born small for gestational age (SGA) may experience more long-term neurodevelopmental issues than those born appropriate for gestational age (AGA). This study aimed to assess differences in the neurodevelopment of children born SGA or AGA within a periurban community in Pakistan.Methods: This was a prospective cohort study in which study participants were followed from the pilot Doppler cohort study conducted in 2018. This pilot study aimed to develop a pregnancy risk stratification model using machine learning on fetal Dopplers. This project identified 119 newborns who were born SGA (2.4±0.4 kg) based on International Fetal and Newborn Growth Consortium standards. We assessed 180 children (90 SGA and 90 AGA) between 2 and 4 years of age (76% of follow-up rate) using the Malawi Developmental Assessment Tool (MDAT).Findings: Multivariable linear regression analysis comparing the absolute scores of MDAT showed significantly lower fine motor scores (β: -0.98; 95% CI -1.90 to -0.06) among SGAs, whereas comparing the z-scores using multivariable logistic regression, SGA children had three times higher odds of overall z-scores ≤-2 (OR: 3.78; 95% CI 1.20 to 11.89) as compared with AGA children.Interpretation: SGA exposure is associated with poor performance on overall MDAT, mainly due to changes in the fine motor domain in young children. The scores on the other domains (gross motor, language and social) were also lower among SGAs; however, none of these reached statistical significance. There is a need to design follow-up studies to assess the impact of SGA on child\u27s neurodevelopmental trajectory and school performance

Assessing health-related quality of life, morbidity, and survival status for individuals with down syndrome in Pakistan (DS-Pak): Protocol for a web-based collaborative registry

Background: Down syndrome is the most common chromosomal disorder, with a global incidence of 1 in 700 live births. However, the true prevalence, associated morbidities, and health-related quality of life (HRQOL) of these individuals and their families are not well documented, especially in low- and middle-income countries such as Pakistan. Disease-specific documentation in the form of a collaborative registry is required to better understand this condition and the associated health outcomes. This protocol paper describes the aims and processes for developing the first comprehensive, web-based collaborative registry for Down syndrome in a Pakistani cohort.Objective: This study aims to assess the HRQOL, long-term survival, and morbidity of individuals with Down syndrome by using a web-based collaborative registry.Methods: The registry data collection will be conducted at the Aga Khan University Hospital and at the Karachi Down Syndrome Program. Data will be collected by in-person interviews or virtually via telephone or video interviews. Participants of any age and sex with Down syndrome (trisomy 21) will be recruited. After receiving informed consent and assent, a series of tablet-based questionnaires will be administered. The questionnaires aim to assess the sociodemographic background, clinical status, and HRQOL of the participants and their families. Data will be uploaded to a secure cloud server to allow for real-time access to participant responses by the clinicians to plan prompt interventions. Patient safety and confidentiality will be maintained by using multilayer encryption and unique coded patient identifiers. The collected data will be analyzed using IBM SPSS Statistics for Windows, Version 22.0 (IBM Corporation), with the mean and SD of continuous variables being reported. Categorical variables will be analyzed with their percentages being reported and with a P value cutoff of .05. Multivariate regression analysis will be conducted to identify predictors related to the HRQOL in patients with Down syndrome. Survival analysis will be reported using the Kaplan-Meier survival curves.Results: The web-based questionnaire is currently being finalized before the commencement of pilot testing. This project has not received funding at the moment (ethical review committee approval reference ID: 2020-3582-11145).Conclusions: This registry will allow for a comprehensive understanding of Down syndrome in low- and middle-income countries. This can provide the opportunity for data-informed interventions, which are tailored to the specific needs of this patient population and their families. Although this web-based registry is a proof of concept, it has the potential to be expanded to national, regional, and international levels.International registered report identifier (irrid): PRR1-10.2196/24901

Neurocognitive abilities in individuals with down syndrome-A narrative review

Down syndrome (DS), or trisomy 21, is the most common genetic syndrome associated with intellectual disability. Despite the variability in expression, there is a distinct developmental phenotype characterized by deficits in learning/memory, executive functions, and language skills accompanying the psychomotor delay. The severity of intellectual impairment has the dominant effect on functioning, other influences such as parental and societal attitudes, supports available and social opportunities also play a role in the attainment of skills

Brown-vialetto-van laere syndrome: A novel diagnosis to a common presentation

Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy with BVVLS and a novel homozygous mutation from Pakistan. Our patient presented with stridor and respiratory insufficiency. Hearing loss which is the most common sign of this condition was absent, making it an unusual presentation of BVVLS. His examination revealed ptosis and tongue fasciculation. His riboflavin receptor mutational analysis showed the homozygous mutation in the SLC52A3 gene. Per oral riboflavin was administered, and subsequently, he was able to be weaned off the ventilator. Now the child is improving and attaining developmental milestones

Menkes disease: A rare disorder

Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurological examination revealed a central hypotonia with marked decrease in muscle power with normal deep tendon reflexes. The serum ceruloplasmin level and serum copper level were decreased. Ultrasound KUB showed Hutch diverticulum along left ureteric orifice. Magnetic resonance imaging (MRI) carried out at five months of age showed frontal cortical atrophy. His EEG was consistent with hypsarrythmia pattern. Patients with classic MD usually exhibit a severe neurodegenerative course, with poor long term outcome and death before the third year of life

Use of antioxidants supplementation on developmental outcomes in children with down syndrome-A systematic review and meta-analyses

Background: The background of this study is to evaluate the published literature on the use of antioxidants in improving developmental outcomes in children with DS.Methods: The systematic review included interventional studies (randomized controlled trials [RCTs] and quasi-RCTs [q-RCTs]) of children aged 0 to 18 years diagnosed with DS who received antioxidants to improve developmental outcomes. Studies were excluded if they were interventional studies with non-random allocation or lack of control group or non-interventional studies including observational studies, systematic and narrative review articles, editorials and commentaries. Studies were also excluded if data from participants with DS were included as part of a larger group of participants (e.g., children with intellectual disability) and the data could not be separated for subgroup analysis, or if outcomes did not assess developmental domains (e.g., reported biochemical markers only). The review included children with other conditions associated with developmental disability, only when data for children with DS were separately reported.Results: Eleven RCTs and q-RCTs fulfilled the eligibility criteria with 683 participants with Down syndrome ranging in age from newborns to 17 years. Nine studies did not show any statistically significant clinical benefit of using antioxidants. Three studies were included in a meta-analysis comparing changes in the effect sizes (post and pre-intervention) in Global Developmental Quotient (GDQ) between the intervention and control groups.Conclusion: This review concludes that it is likely that the results are valid and suggest that the use of Antioxidant has no improvement in GDQ for children with DS. It is also unclear if any benefit exists for other developmental domains