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Autistic Pride Day – 18 June 2022

As per recent data ASD is reported in 1:59 children. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and the presence of restricted, repetitive patterns of behavior, interests, or activities present during early periods of development that negatively impact social, occupational, or other domains.

Autism affects 2 key areas:

  • Defective Social interactions and social communication skills
  • Restricted, repetitive patterns of behavior, interests, or activities

These symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. However, autism and intellectual disability can coexist together

The average age of diagnosis is 5 years; however, early warning signs can be observed in infancy.

Early intervention based on the principles of ABA can improve the functioning of chil- dren with ASD by addressing behavioral deficits and excesses.

  • Interventions based on principles of applied behavior analysis (ABA) can effectively reduce social skills deficits following training.
  • Approaches to language development and communication based on ABA incorporate a functional approach to language and can effectively increase verbal and nonverbal communication skills.

The cause of ASD is unknown, but research supports genetic and environmental factors.

Common genetic causes for autism include Fragile X syndrome, Tuberous sclerosis and 22q11 deletion. Hence, Chromosomal microarray and Fragile X screening are the thefirst tier test in cases of autism.

In the absence of specific genetic test results, only recurrence risk estimates can be made; the recurrence rate with one previously affected sibling is around 10–15%. If there are two affected siblings in the family, the estimated rates predicted by a theoretical model are around 50% and 12% in subsequent newborn boys and girls, respectively . The recurrence rate varies as a function of the gender of the previously affected sibling, with higher recurrence rates in the case of a female affected sibling

The increasing prevalence of ASD and substantial economic and collateral costs at the individual, familial, and societal levels necessitate attention to interventions.

Dr. Seema Thakur
MS (Obs &Gynae), DM (Med Genetics)
Senior Consultant Genetics and Fetal Diagnosis

World Sickle Cell Day – 19 June 2022

Sickle cell disease(SCD) is one of the most common monogenic disorders globally with an autosomal recessive inheritance1. James Herrick, a physician first described the characteristic sickle shaped red cells in a medical student from Grenada in 1910.The disease results from a single base A>T mutation in the triplet encoding the sixth residue of the β-globin chain, leading to a substitution of valine for glutamic acid and the abnormal haemoglobin S (HbS).

The primary pathophysiology is based on the polymerization of deoxyHbS with formation of long fibers within the RBCs causing a distorted sickle shape which eventually leads to increased haemolysis and vaso-occlusion of sickle red cells.

The sickle cell gene is predominantly seen among the tribal populations in India, many of whom live in remote hilly regions . Carrier frequencies range from 1 to 35% in many commun- ities. The disease in India occurs predominantly in a central belt stretching from Eastern Gujarat, Maharashtra, Madhya Pradesh, Chhattisgarh, to Western Odisha with a smaller focus in the Nilgiri Hills of northern Tamil Nadu and Kerala in southern India.

A recent calculation using currently available data indicates that 50% of the total AS and SS neonates are born in only three countries, Nigeria, India and DR Congo. For SS neonates, the estimate for India was 42 016, which corresponds to 88% of the homozygous cases in Asia [14&]. This emphasizes the need for a national registry for an accurate estimation.

Prenatal diagnosis is indicated if both husband and wife are sickle cell trait. Risk of sickle cell is 25% and prevention is possible by CVS at 11-12 weeks of pregnancy
Sickle cell anemia management can be considered in two categories, health maintenance, and management of complications.

The goal of health maintenance is to screen and identify risk factors and early signs of complications. There is evidence that pneumococcal vaccination, penicillin prophylaxis (early infancy until at least age five and education of the management of fever have considerably reduced mortality and morbidity from invasive infections.

Routine screening with transcranial Doppler (TCD) of large intracranial blood vessels may predict the risk of stroke in children with sickle cell

Management of sickle cell complications is tailored to the type of complication. The management consists of rapid pain assessment, early initiation of analgesic therapy, and maintaining this analgesia (consider PCA pump) and hydration until there is symptom relief. For most patients with mild pain, acetaminophen or NSAIDs may suffice, but for moderate and severe pain, opiates with or without NSAIDs are indicated
Among patients who have frequent and severe complications, hydroxyurea has been shown to offer significant benefits. Hematopoietic stem cell transplantation (bone marrow transplantation) shows great promise as a cure for sickle cell disease. Antihistamines (diphenhydramine, hydroxyzine) may reduce itching caused by the opiates and may have some opioid-sparing effect. For acute chest syndrome, empirical antibiotics (cephalosporin and macrolide), adequate analgesics, oxygen supplementation, simple or exchange transfusion, beta-agonist inhalations, and incentive spirometry may be needed.

Dr. Seema Thakur
MS (Obs &Gynae), DM (Med Genetics)
Senior Consultant Genetics and Fetal Diagnosis

Research, such a necessity – Prof. Kypros Nicolaides

We had the history of Fetal Medicine unfolding in front of our eyes on 23rd October when Prof. Kypros Nicolaides narrated his journey over the past 30 years as part of FMF India’s research webinar series.

He gave a very personalized insight into how he observed patterns and their variations, gathered data , collaborated with like minded people and came up with algorithms for Down Syndrome screening. …and then preeclampsia, preterm births, multiple pregnancy, in utero therapy, non invasive prenatal screening ..and you name it all! His training has raised pioneers across the world and it is no surprise that his team has been at the forefront of investigating and finding solutions for almost every obstetric malady.

We feel proud that we practice evidence based medicine but he is the legend who assembled this evidence. It is his toil, hardwork and exemplary research on which the science of Fetal Medicine is based. When you hear “This one slide in my presentation is hard work of over 25 years” it makes you realise the enormity of it all.

What drives him to spend this time in research? How does he balance work, research and personal life? At the root of it all is the passion to make a difference in women’s obstetric outcome. His innovation in screening strategies using very simple markers and then motivating various research teams on finding solutions have transformed our practice.

Acknowledging the deficiencies in government’s allotment towards research activity, his charity- Fetal Medicine Foundation has donated 45 million pounds towards research in this field. He believes India has the potential and his parting words for us were “For India, the answer is collaborative research”.

Thanks to Anita Kaul for conceptualising FMF India’s Research webinar series and bringing her much beloved Professor, mentor, Kypros Nicolaides to share his passion and zeal for research and inspire others to understand why Research is such a necessity and not a luxury.

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