Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Monogenic epilepsies are a significant etiology of pediatric epilepsy. These are now more easily identified due to advances in genetic testing. However, the utility of genetic testing in low to middle-income countries (LMICs) has not been fully explored.

Spectrum of Common Pediatric Neurological Disorders: A Cross-Sectional Study From Three Tertiary Care Centres Across Pakistan.

Background: There is dearth of information on the spectrum of neurological disorders among children less than 18 years of age. The aim of this study is to identify the commonly presenting neurological disorders among children aged ≤ 18 years in Pakistan.

Methods: We conducted a cross-sectional study at three tertiary care hospitals in Pakistan.

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.

Background: Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases that present with weakness and stiffness in the lower limb muscles and lead to progressive neurological decline. Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to complex HSP. This study aimed to identify causative genetic variants in consanguineous families with HSP from Azerbaijan and Pakistan.

Why mental health service delivery needs to align alongside mainstream medical services.

There is significant individual human suffering and economic burden because of untreated mental health and substance use disorders. There is high psychiatric morbidity in primary and secondary medical care. At least one-fifth of patients attending primary care services in western countries pertain to mental health and one-third of patients attending general hospitals have a comorbid mental disorder.

The COVID-19 pandemic: an opportunity to make mental health a higher public health priority.

Coronavirus disease 2019 (COVID-19) was first recognised in December 2019. The subsequent pandemic has caused 4.3 million deaths and affected the lives of billions.

-related disease is associated with central pontine calcifications and atypical parkinsonism.

Objective: To identify the phenotypic, neuroimaging, and genotype-phenotype expression of mutations.

Methods: Using next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in , , , and . In-depth phenotyping and neuroimaging investigations were performed in all cases reported here.

Acute Necrotizing Encephalopathy.

Objective: To describe the clinical profile of pediatric patients with acute necrotizing encephalopathy (ANE).

Study Design: Case series.

Place And Duration Of Study: Aga Khan University Hospital, Karachi, Pakistan, from January 2014 to October 2017.

Effectiveness of a recovery-orientated psychiatric intervention package on the wellbeing of people with early dementia: a preliminary randomised controlled trial.

Objective: To investigate whether recovery-orientated psychiatric assessment and therapeutic intervention enhances the wellbeing of people with dementia and their family carers.

Methods: In a preliminary randomised controlled trial, 48 people with early dementia were recruited. Of 34 who completed the trial, 17 were in the recovery and 17 in the treatment as usual group.