Stability of the Initial Diagnosis of Autism Spectrum Disorder by DSM-5 in Children: A Short-Term Follow-Up Study.

BACKGROUND: Assessing the stability of the diagnosis of autism spectrum disorder (ASD) in children is important. Only few such studies have been reported from India. We aimed to assess the stability after 18-30 months, of an initial diagnosis of ASD based on DSM-5, in children ≤ 5 years of age using Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2). METHODS: A total of 125 children with ASD diagnosed by DSM-5 at ≤ 5 years of age were followed up at 18-30 months using ADOS-2, which is considered as the 'gold-standard' observational assessment for diagnosing ASD and hence suitable for confirming the stability of the diagnosis. RESULTS: Similar to previous studies from developed countries, the stability of ASD diagnosis was 80%. There was no significant correlation between gender, socioeconomic status and the stability of the final diagnosis. All the children continued to have some developmental difficulties mainly in the domain of language, attention or social communication. CONCLUSION: Our results suggest that DSM-5 can be used for the initial diagnosis ASD to initiate early intervention for children with this condition in resource-limited set-ups. Adequately powered prospective studies with long-term follow-up are needed to confirm our findings.

Fragile X Syndrome with Congenital Diaphragmatic Hernia.

The authors present a case of Fragile X syndrome (FXS) in siblings from an Indian family with no developmental delay in previous generations. The boy presented with developmental delay, autistic features and defiant behaviours that raised clinical suspicion. He also had congenital diaphragmatic hernia (CDH). Social anxiety and difficulty in making friends were the subtle features in his sister with dull normal intelligence. FXS was confirmed by clinical features and DNA testing. Intervention was initiated for both the siblings. Screening siblings in FXS is important. CDH can be associated with FXS.

General Movement Assessment in Babies Born Preterm: Motor Optimality Score-Revised (MOS-R), Trajectory, and Neurodevelopmental Outcomes at 1 Year.

Objective: To assess the association between the General Movement Assessment (GMA) findings, including Motor Optimality Scores-Revised (MOS-R) at 16 weeks, and neuromotor outcome assessed by the Amiel-Tison Neurological Assessment at 9 months of corrected age and the Developmental Assessment Scales for Indian Infants (DASII) at 1 year of corrected age in preterm ≤32 weeks. Study design: Serial GMA videos of infants born preterm ≤32 weeks were recorded on day 7, 35 weeks of postmenstrual age, 40 weeks of postmenstrual age, and 16 weeks of corrected age. The association between GMA findings, including MOS-R scores and GM trajectory between 35 to 40 weeks and the Amiel-Tison Neurological Assessment and DASII scores, was assessed by Spearman correlation, Fisher exact tests, and ordinal regression. Results: Moderate correlations were observed between MOS-R and the DASII motor DQ (Spearman r = 0.70, P < .001) and between MOS-R and DASII Mental DQ (r = 0.65, P < .001). The GMA trajectory at 35-40 weeks was associated with DASII motor DQ (Fisher exact, P = .002), and also with the Amiel-Tison Neurological Assessment at 9 months of corrected age (P < .01 by the Fisher exact test). On analysis by performing ordinal regression of predictive values of the general movements (GM) at 7 days of age, GM at 35 weeks, GM at 40 weeks, GM at 16 weeks, and MOS-R at 16 weeks, MOS-R alone was a statistically significant predictor of motor DQ at 1 year of age (OR -0.59; 95% CI -0.97 to -0.22; Wald statistics, P < .02). Conclusions: Consistent with findings in high-income countries, GMA including MOS-R scores performed in Indian infants born preterm during the neonatal period and early infancy is associated with neurodevelopmental outcomes in the first year of life. GMA can help initiate focused early intervention in low- and middle-income settings, where resources may be limited.

Identification of Complin, a novel complement inhibitor that targets complement proteins factor B and C2.

Complement factor B (fB) is a key constituent of the alternative pathway (AP). Its central role in causing inflammation and tissue injury through activation of the AP urges the need for its therapeutic targeting. In the current study, we have screened phage-displayed random peptide libraries against fB and identified a novel cyclic hendecapeptide that inhibits activation of fB and the AP. Structure-activity studies revealed that: 1) the cysteine-constrained structure of the peptide is essential for its activity; 2) Ile5, Arg6, Leu7, and Tyr8 contribute significantly to its inhibitory activity; and 3) retro-inverso modification of the peptide results in loss of its activity. Binding studies performed using surface plasmon resonance suggested that the peptide has two binding sites on fB, which are located on the Ba and Bb fragments. Studies on the mechanism of inhibition revealed that the peptide does not block the interaction of fB with the activated form of C3, thereby suggesting that the peptide inhibits fB activation primarily by inhibiting its cleavage by factor D. The peptide showed a weak effect on preformed C3 and C5 convertases. Like inhibition of fB cleavage, the peptide also inhibited C2 cleavage by activated C1s and activation of the classical as well as lectin pathways. Based on its inhibitory activities, we named the peptide Complin.

Video-based screening for children with suspected autism spectrum disorder - experience during the COVID-19 pandemic in India.

Background: Assessments for children with autism spectrum disorder (ASD) must adapt to the current COVID-19 pandemic through innovation in screening and assessment strategies using technology. To our knowledge there are no such studies reported from India. We aimed to study the predictive ability of video-based screening tool with definitive diagnosis in children with ASD. Method: Thirty-nine children were screened independently by two examiners with a video-based screening tool to start intervention followed by an in-person evaluation by clinical DSM-5 diagnosis three months later. Result: Similar to studies from developed countries, videos assessments showed a 94.87% correlation with the final diagnosis. Interobserver video agreement had a kappa correlation of 0.803, which was classified as substantial agreement. Conclusion: Video-based evaluations may be used as an interim assessment to initiate early intervention in children with ASD in resource-limited setups in the current pandemic situation. Large, well-designed prospective studies are required to confirm our results.

Whole-Genome Sequence Analysis of Postpandemic Influenza A(H1N1)pdm09 Virus Isolates from India.

The pandemic influenza A(H1N1)pdm09 virus was first detected in India in May 2009 and continued to circulate in the postpandemic period. Whole-genome sequence analysis of postpandemic A(H1N1)pdm09 viruses showed the circulation of clade 6 and clade 7 viruses. The hemagglutinin (HA) gene showed increased diversity compared with that in the pandemic phase.

Whole-genome analysis of influenza B viruses of multiple genotypes cocirculating in India.

Systematic influenza virus surveillance has been carried out in India since 2004 and has revealed the cocirculation of type B lineages. The genetic diversity of influenza B viruses was observed when full-genome analysis was performed. In 2010, the cocirculation of multiple genotypes was observed.