Prevalence of minor physical anomalies in children with autism spectrum disorder reporting to a tertiary care hospital Lahore-Pakistan.

Objective: To assess the frequency and type of minor physical anomalies (MPAs) in subjects with autism spectrum disorder (ASD). Methods: This descriptive cross-sectional study was conducted from September, 2016 to October, 2020. Using purposive sampling technique, 147 subjects with ASD were recruited from Children's Hospital and Institute of Child Health (CH & ICH) Lahore, with a confirmed clinical diagnosis by developmental pediatrician, using Diagnostic and Statistical Manual of Mental Disorders (DSM-V). For morphology assessment, 12 body regions of ASD subjects were examined using Autism Dysmorphology Measure (ADM) manual after taking informed consent. Physical measurements (height, weight, head circumference, ear length, philtrum, hand, finger and foot length) were also taken and were compared with the available standard charts. Results: A total of 381 dysmorphologies were identified in 131 (89.1%) ASD subjects whereas 16 subjects had no dysmorphology at all. Microcephaly was exhibited by 14 (9.5%) subjects, out of which 13 had variable number of dysmorphologies while one had no dysmorphology in other body regions. Out of 131 subjects exhibiting dysmorphologies, there were 108 male and 23 female subjects, with a M:F ratio 4.7:1 whereas microcephaly was observed in 12 male and two female subjects, with a M:F ratio 6:1. The highest number of dysmorphic features were noted in the ears, followed by feet and hair growth pattern. Conclusions: MPAs associated with ASD are frequently found in, but are clearly not limited to, the head or facial region.

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherited variants, particularly in populations in which consanguineous marriages are common. What is also becoming more apparent is the degree of pleiotropy, whereby mutations in the same gene may have quite different phenotypic and clinical consequences. We performed whole exome sequencing in a group of 115 trios from countries with a high level of consanguineous marriages. In this paper we report genetic and clinical findings on a proband with ASD, who inherited a biallelic truncating pathogenic/likely pathogenic variant in the gene encoding voltage-gated sodium channel X alpha subunit, SCN10A (NM_006514.2:c.937G>T:(p.Gly313*)). The biallelic pathogenic/likely pathogenic variant in this study have different clinical features than heterozygous mutations in the same gene. The study of consanguineous families for autism spectrum disorder is highly valuable.

Quantitative and qualitative analysis of cadaveric human pinealocytes in various age groups.

OBJECTIVE: To determine age-related quantitative and qualitative changes in human pinealocytes using cadaveric material. STUDY DESIGN: Analytical cross-sectional study. PLACE AND DURATION OF STUDY: The study was conducted in the Department of Anatomy, University of Health Sciences, Lahore, from January to December 2008. METHODOLOGY: Thirty pineal glands from human cadavers ranging from 16-80 years of age were collected from mortuary of King Edward Medical University, Lahore, using purposive non-probability sampling. These were divided into three different age groups: I, II and III each between 16 to 30, 31 to 45 and 46 to 80 years of age respectively. Pinealocytes were counted; their mean diameter and that of their nuclei was calculated from a total of 30 cells per slide, using 4 µm thick H and E stained histological sections. Mean ± S.E.M. was calculated for quantitative variables. One-way ANOVA was applied to observe group mean differences among three groups. RESULTS: The number of pinealocytes decreased with aging but the difference was statistically insignificant when compared between groups (p=0.234). There was no change in size of pinealocyte soma and its nucleus (p=0.889 and 0.898 respectively). CONCLUSION: The number and size of pinealocytes, and their nuclei remained unaltered with advancing age.