The APDSF AGM 2023 was organized at Kathmandu, Nepal in association with the local body  -DSSHA was attended by 10 countries – India, Nepal, Pakistan, Bangladesh, Sri Lanka, Thailand, Mongolia, Singapore, Australia and UK represented by the advisor of APDSF, Mr. Paul Zanon.

The inauguration of the event was with a speech by self-advocate Ashish Joshi. That was followed by a dance performance by self-advocates – a solo performance by Mr. Ashish Joshi and a group dance by some enthusiastic participants. Graceful and charming, the self-advocates showed those present that they could do anything if given an opportunity. The Chief Guest of the event was the Honorable Deputy Mayor of Kathmandu, Ms. Sunita Dangol. She was inspired and amazed at the talent displayed and promised to support persons with Down syndrome in whichever way she could. She requested all parents and those present to reach out to her and she would try to get the required action taken by the Government.

This time, the idea was to support local therapists by assisting them with information and training which therapists from India and Singapore provided. There were about 25 local therapists who took advantage of this. Since both India and Singapore have well-established therapy regimes for children, it was but natural that both these countries joined hands to provide this training. It has been planned to have these kinds of training for any location that hosted the APDSF AGM. The various presentations at Kathmandu are being shared here for the benefit of everyone.

Another interesting session was the discussion on the Fitness of our self-advocates. Col. Subash Thapa of Nepal spoke to the gathering about his plans on helping self-advocates reach Everest Base Camp. This is the follow-up on the first ever Downs Mountaineering workshop organized by him in association with DSFI.

The AGM also had its regular medical committee meeting where it is planned to create Guidelines for the entire region on Post Natal Counselling. This should be ready by November. Collaborations with other organizations was also discussed to help and support more persons with Down syndrome.

The next AGM is scheduled to be organized in 2024 at either Singapore or Malaysia depending on collaboration with some other bodies that are being planned.

Presenting a few glimpses from the event.

Training children with Down Syndrome – Hemamalini V S, Special Educator – Read More…

Speech and Language Therapy An Insight Into Early Intervention – Sharanya Krishnan, Consultant SLP – Read More…

DOWN SYNDROME Diagnosis Management Prevention – Dr.M.PRADEEPKUMAR MD (Paed).,DCH.,FCG.,
Consultant Geneticist – Read More…

Behavior Modification Positive Redirection – Read More…

Teaching Reading and Numeracy skills – Hemamalini V S, DSFI Chennai – Read More…

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Queen Mary-led research uncovers why people who have Down’s Syndrome age prematurely

An overdosed gene on chromosome 21 causes people with Down’s Syndrome to age faster than the general population.

Published on:  13 July 2023

” Molecular processes responsible for natural ageing of cells are poorly understood. Studying conditions in humans where ageing is accelerated due to genetic causes presents opportunities to learn about the mechanisms that control ageing and devise strategies to slow down the ageing process.

Adults who have Down’s Syndrome (DS) show earlier signs of ageing-related conditions: reduction in tissue regenerative capacity, alopecia, dry skin, delayed wound healing, chronic gum disease, osteoporosis, senescence of the brain and immune cells. DS is a genetic, but not inheritable condition, caused by being born with an extra copy of chromosome 21 (trisomy 21). It affects around 7 million people worldwide (around 60,000 in the UK).

DS is the most frequent genetic cause of intellectual disability and early onset Alzheimer’s disease. While increased risk of early Alzheimer’s is clearly caused by an extra copy of the amyloid precursor protein gene (APP) encoded on chromosome 21, the genetic basis for the other conditions is not easily explainable.

New research published in the Lancet Discovery journal eBioMedicine, led by Queen Mary’s Professor Dean Nižetić and Dr Aoife Murray, with collaborating institutions from Croatia, Singapore, France, Italy and four other London universities, has uncovered an overdosed gene on chromosome 21 causes cells of people with DS to age prematurely.

The study has shown that biological age of people who have DS is on average 19.1 years older than the chronologically age-matched people who don’t have DS. The research has also shown that this is not caused by co-morbidities of DS, and that the premature ageing process starts very early in childhood. The gene for a kinase (a type of enzyme that speed chemical reactions in the body) called DYRK1A was identified as the main cause of the premature ageing component of DS, showing that this gene’s overdose disturbs the DNA-damage-repair mechanisms, causing cells to develop more breaks in their DNA and fragility of their cell nuclei.

Dean Nižetić, Professor of Cell and Molecular Biology at Queen Mary, said:

“We have uncovered that trisomic overdose of this gene (DYRK1A) is one of the main contributors to premature biological ageing in DS. Further research is needed to understand how much this contributes to brain development and function, and also in finding ways of precisely inhibiting the overdose of this gene back to physiological levels. This could open exciting new possibilities for early interventions in DS, but a lot more research is needed.”

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