Monday, September 30, 2013

Sensory Skills in down syndrome

Sensory Skills Development
Sensory skills in deferentially able kids are somewhat poorly developed.If such kids are asked to do multiple things at a time.They get confused and are unable to differentiate in to multiple commands.If asked to perform multiple activities at one go then it is not easy for them to follow many instructions at the same time.In such cases small tasks are given individually and then are clubbed together in small steps.Once they win over small instructions then this chain is maintained until they achieve  expected level.
While the physical sensory issues are concerned,some children have higher sensitivity for certain textures,surfaces,noise,light etc.If such issues are found then some therapy sessions are planned in support of OT .Once corrective  measures are started slowly we can overcome such issues.
Some kids freak out or behave violently if their demands are not met or if in case they are not comfortable in certain conditions.Such conditions are not uncommon in normal kids too.But such situations in kids with disability are usually taken care in early intervention programs.Small teaching plans with small targets are made and worked upon.There are incentive's for every small step  kids achieve.
Younger years are the stepping stones for the childs life.Good habits act as building blocks for the coming years.Slowly and gradually with extreme patience family,counselor,therapists and support groups all join hands to enhance beauty and productivity of life for all disabled kids. 
These were the negative sensory issues but if we see positive side of coin all kids with disability have some or the other sensory skills beautifully developed.Which can be strong pillar in their life.That can help them build their career,protect them.They build emotions and have strong sense of security naturally.






Thursday, September 26, 2013

Role of Occupational Therapist in Down Syndrome

Occupational therapist plays most important role as therapist in medical regime of down syndrome child.Therapist helps in the training and overall development of child.Therapist focuses on developing fine and gross motor skills,minor and major day to day chore activities.OT helps child to achieve  early milestones near to time.Social skills are groomed to the level he establishes in society,he is able to perform his day to day activities more independently.Down syndrome infants are hypo tonic due to which they have delayed neck stability,sitting,crawling or even walking.OT starts with playful exercises that increase tone as well ligament laxity among joints.They work over the movements of joints,hand and fist movements,neck,spine,knee and ankle joint.Hand, eye coordination and muscle toning and ligament strengthening is also taken care.As the child grows these exercises are converted into small playful acts.These acts are then converted in to day to day activities child is expected to do.Like how to feed,dress,undress,play,take care of there things.Slowly with parents and therapists support child is able to perform most self help things like bathing,brushing,going to school,playing,socializingOT usually use blocks,stacks,knobs in various shapes,sizes and colors to start with as tools.Then pictures,images and symbolic products.Which are later converted in to real time objects treated as educational tools to the kids.

Medical Intervention In Down Syndrome

Down syndrome is non curable disease.As  once it affects genes it
can never be reverted.As such none of the medical treatments can relieve the effects.Early intervention can just improve physical ,mental and cognitive development.


Physical aspect is usually handled by pediatricians in early growing years.Physicians take the responsibility in the years ahead.

Simultaneous suppport of endocrinologist,vision therapist,Ent,Audiologist,cardiologist,Physical therapist and speech therapist take care of growth and well being of child in their specific areas.

Mental behavior is taken care by psychiatrists and psychotherapists.The early the intervention,the better the results are.

Cognitive health is taken care under occupational therapists  and special educators.They introduce families to social groups.Where they share the experiences and support each other as support groups.






Wednesday, September 25, 2013

Medical Issues In Downs


Down syndrome comes in package with multiple physical disorders.It affects commonest body organs to bigger health issues.Respiratory infections due to nasal structure to hearing and vision impairment.Mild to Moderate hypothyrodism caters to poor prognosis.To my despair physical conditions affect mental as well psychological concerns.
When i see to down children families what pinches more is the psychological effect on child that bothers more than physical aspect.Physically conditions like thyroid and heart defects are easily managed by medical science.
Effect of hear loss and vision loss on cognitive development and impact of sleep disorders,dementia and Alzheimer are mild poisons. Neuro behaivoral disorders worsen the condition.
Medical fraternities in countries like US,Uk and Ireland have specific guidelines to deal in such medical conditions.Often we are unable to treat them as normal human beings remains the most important underlying fact that makes their life more difficult.










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Friday, September 20, 2013

Down syndrome Puberty

Down syndrome teenagers develop primary and secondary sexual characteristics at same age other normal kids.It may vary as in other normal cases too.Girls have pubic and armpit hairs before menarchy between 11 to 13 years when most of the girls start menstruating,while men may start ejaculating along with beard at the time of puberty.There have been very few cases when down men have fathered kids reason may be fertility or chances of not getting opportunity.Another reason speculated is poor muscle tone that may cause Erectile dysfunction.
 Average time and cycle in case of down girls remains same as that of normal girls but it can still differ as in other normal cases.Ovulation is also normal when fertility issue is concerned.It is found that they can conceive but offspring may be again a down syndrome in 50% of cases seen.On the contrary IVF these days has changed the terms completely via ova donations and test tube babies in children with disability and downs.
The important aspect is the mental growth which is not in coordination with physical growth.When body prepares for menarchy the child is not in mental condition to understand the physical changes in her,more depressed are the mothers to handle a situation like that. 
Adolescent counselors,psychiatrists,psychotherapists and most importantly mother or any female sibling are most comfortable counselors .Child has to be well explained,advised,guided and trained when such a situation comes and she has to be taken into confidence than instead to panic ,situation can be handled calmly.Fertility can be resolved but child care and sensitivity to understand and responsibility to bear a child can questioned.





Wednesday, September 18, 2013

Development in Downs Infants

Down infants growth in context with social behavior, motor skills &language skills can be described as poor auditory skills,sometimes vision disorders,delay in walking,speech and learning behavior. Self help like toilet training,bathing,feeding,dressing are usually near to achievable.Socially they are lovable and interact with almost everyone.They learn easily but have tendency to not to retain the memory.
Right approach and study methods at right age can give clarity on basic concepts.Expecting everything timely with precision may not be possible.Motor ,social and cognitive skills are assessed on regular intervals and intervened by related therapists.Work plans are tailor made accordingly.Even if same inputs provided to group of downs kids,Not all respond at same level.It was found kids on whom family inputs were given along with special trainers back support  they picked things much well.The response of kids with supportive siblings responded much better in social behavior and learning skills.In Uk many support groups work to guide and help such families , to improve quality of life of a down child by advising on educational,medical and social issues.They even fight for the cause of social acceptance of such kids in terms of inclusive education,employment and relationships.To my surprise some parents work as volunteers and educate their children's peers to make them understand its just the difference of one chromosome that make these ordinary kids special.I felt proud when kids other than down accept to the fact and find these kids more lovable and trustworthy to depend upon.





Karyotyping



Karyotyping is pictorial depiction of chromosomes.It describes the number,look,position,banding,physical character,difference between sex chromosomes.It is usually two sets of chromosomes 23 each and 46 in total.
Karyotype can be done pre natal via amniotic fluid and post birth via blood sample to confirm genetic diseases
like down syndrome. karyotyping comes under the branch of cytogenetics. It can even detect any chromosomal 
abnormality which may or may not pass to their child.Chromosomal defects that can cause infertility or miscarriages can be pre detected.If causes of still birth and disability are genetic ,then it can be identified prior.
Sex chromosomal issues can also sorted but it may not be allowed in all countries to determine sex of foetus.
Chronic illness like cancer therapies are also decided by genetic studies.Abnormal chromosomal study can be
useful in various genetic threats.

Tuesday, September 17, 2013

Down Syndrome Screening

Down syndrome is a genetic condition that can be screened prenatal or confirmed through diagnostic tools post natal.Prenatal initial screening can be done as early as
12 weeks when nasal bone and nuchal translucency scan can be done by ultrasonic 
investigations and if screening comes high risk,then chorionic villus sampling can be 
early diagnostic method.Double Marker,Triple Marker and Quadraple Markers are blood markers that pathologically rules out the risk. The last confirmatory test comes out to be amniocentesis.Amniocentesis is the most near to confirmatory test one can go through to rule out the down syndrome status of unborn child.The confirmatory tests like chorionic villus sampling and amniocentesis carry risk of loosing the pregnancy.But this risk is always less than the risk to face the hardship to become parents of a compromised child.




Monday, September 16, 2013

Features of Down syndrome


Down Syndrome babies often carry Mongolian features,flat face,slanting almond shape eyes,short neck.Small ears,which usually stick to their face and protruding tongue which usually remains out of their mouth for at least initial few months.As the oral cavity grows tongue gets space in the mouth itself but often seen protruding .White spots in the iris may or may not always be seen.Small limbs with inward rolling,small palms and feet,widely spaced toe finger,single palmar crease called as simian crease are some of the commonest features.With all these features most of the downs children seem to belong  the same family as they resemble so much to each other.                                             
  Intellectually these kids may have mild to moderate IQ than normal kids,but their ability to excel in certain fields is remarkable.Sports like swimming and recreational things like music and dance can really uplift them.They may cover their milestones at a little slow pace but if organised and trained properly they lead an episode free and productive life.Down syndrome is usually associated with several physical compromised conditions.These conditions may or may not be present all together. Esophageal reflux,Intestinal blockage, ASDs,Vision,Hearing,Thyroid,Dementia,speech,Joint Luxation,Gait are some of the most commonly seen medical threats.Regular medical intervention can bring smooth and healthy life.

Sunday, September 15, 2013

Genetics Down Syndrome

 Down Syndrome or trisomy 21,is a genetic variation where chromosome 21 usually has three copies in all cells of body.It can be also seen as trans location of chromosome 21.At the time of fertilization usually the process takes place.In some cases an extra copy of chromosome 21 in some cells and not all comes to the category of Mosaic Down syndrome.
                    This extra copy of genes is not only believed to break the genetic cycle of family but also in some cases,  my experience has seen rarest cases where i have found due to gene mutation family genetic line is not only affected but the blood group disparity of Down s Child diversified causing disparity in familial line.Researchers have never found a reason for same as blood group is connected to Gene 19 where there may be some other genetic condition that is linked between the two.But like many unexplained things this is a point of research till date.
                           Usually neither down syndrome is inherited nor it frequently repeats in further pregnancies.The chances of both the conditions are very low.Down syndrome baby may happen to anybody who is unaffected by himself and so are his generations.
It can be well detected by diagnostic tools in early pregnancy and can be prevented.







Friday, September 13, 2013

What Is Down Syndrome?


Down syndrome, also known as trisomy 21, is usually caused by the presence of all or part of a third copy of chromosome 21 and is thus called as trisomy. Down syndrome is the most commonly occurring chromosomal disorder . In United States one of 691 babies born per year one  is down syndrome.           It delays physical growth by affecting milestones and intellectual disability as well.They have average half the IQ of normal human beings.We can improve the quality of life by monitoring their health and mentoring their lifestyle.The disease was named after John Langdon Down in 1866,health care practitioner who clinically described the condition and researched over the disease.He found it was not merely a disease but found it is a clinical condition which affects many organs and thus decribed it as syndrome.It can be well seen in prenatal screenings and usually terminated as low socially acceptable condition.DespiteDown syndrome kids being chirpy and lovable.Those born unidentified face severe rejections by society.