Asperger's syndrome has been found to affect people at a tender age. The augmented impacts of this syndrome are felt as you grow up. It is a neurological disorder falling under the scope of Autistic Spectrum Disorders. However, it is a milder form of autism and has similarly unidentifiable causes. A person afflicted with Asperger's syndrome will not exhibit stark signs of the disorder. These persons are usually smart and brilliant but face issues in communicating or interacting socially.
Factors that may result in this disorder:
Ways to diagnose Asperger's syndrome:
As the name suggests, congenital nephrotic syndrome affects the kidneys of newborn babies. Though congenital means the disease must be present from birth, babies who develop nephrotic syndrome in the first three months are also said to suffer from this condition. This is a rare genetic disorder that is passed down from parents to their children. Boys are at a higher risk of suffering from this disorder than girls. The congenital nephrotic syndrome causes the kidneys to leak large amounts of protein into the baby’s urine. This can lead to swelling of the body tissues and a weakened immune system.
Some of the common symptoms of this disease include
Pregnant women are usually screened for this condition before the baby is born. The doctor will be looking for a placenta that is larger than normal in an ultrasound and high levels of alpha fetoprotein in amniotic fluid samples. If found; the doctor might ask for a genetic test to confirm the diagnosis.
Once the baby is born, he or she will show signs of fluid retention as the body begins to swell. Other signs your doctor will look out for are high blood pressure, signs of malnutrition and abnormal sounds from the heart and lungs. A urine analysis will also show high levels of protein in the urine though the overall protein levels in the body may be low. The doctor may also ask for a kidney biopsy in some cases to confirm the diagnosis.
In case you have a concern or query you can always consult an expert & get answers to your questions!
Down Syndrome refers to a genetic condition, where a person is born with an extra copy of a chromosome. Usually, a child is born with 23 pairs of chromosomes but those with Down syndrome are born with an additional copy of one of the chromosomes – Chromosome 21. The genetic disorder causes mental and physical disabilities and developmental delays in the child. Here we check out some tests and methods to diagnose down syndrome problems.
Some parents are more likely to have a child with Down syndrome. As per the Centres for Disease Control and Prevention, pregnant women above age 35 have a higher chance of having a child with this genetic disorder, as compared to those in their late 20s or early 30s. The chances of giving birth to a child with Down syndrome rise as the mother ages. Screening during pregnancy can help you understand if your child is likely to have Down syndrome or not.
Screening for Down syndrome could be a part of your routine prenatal care. If the mother is over 35 years, the father is over 40 years, or if there is a family history of Down syndrome, then you should go for an evaluation.
The doctor may recommend a few additional tests to diagnose Down syndrome in the child. These may include –
Amniocentesis – The test, typically performed after 15 weeks of pregnancy, involves taking a sample of the amniotic fluid to check for the number of chromosomes the baby has.
CVS (Chorionic villus sampling) – The doctor takes cells from the placenta to evaluate foetal chromosomes. The test is conducted between week 9 and week 14 of pregnancy.
However, some women hesitate to undergo these tests due to an increased risk of miscarriage.
Tests to Diagnose Down Syndrome at Birth
The doctor will most likely perform the following at birth –
A thorough physical examination of the child
A certain type of blood test, known as Karyotype, to confirm the diagnosis
Although Down syndrome cannot be cured or prevented, the risks of having a child with this genetic disorder can be reduced with some lifestyle changes. Nevertheless, if you are giving birth to a child with Down syndrome, you will need to work closely with a medical professional to understand the unique challenges of the condition.
Asperger's Syndrome has recently come under the umbrella of Autism Spectrum Disorder. This syndrome usually affects the social skills of the patient, most heavily. The patient may seem normal and even intelligent at first glance. But on closer interaction, several social skill problems will come to the fore including an obsessive focus on certain topics and issues. Repetitive behaviour is also a part of this disease.
Let us find out more about Asperger's Syndrome:
In the course of the treatment, it is important for the child, parent and therapist concerned to realise that there is no single approach that can be applied to all patients suffering from Asperger's Syndrome. Individual care and therapy will be required for individual cases. At the same time, most of the skills will need to be repeated at home so that the child takes them more seriously.
Down syndrome is a genetic disorder that develops when an error or abnormality in the cell divisions leads to an extra copy of Chromosome 21. The condition affects a person’s physical growth and cognitive abilities, causing moderate to mild developmental issues. Many of the developmental disabilities last for a lifetime and possibly reduce life expectancy.
One out of every 700 pregnancies results in the birth of a child with Down syndrome. Children born with this condition have distinctive features – small head, short neck, flattened face, protruding tongue, and upward slanting eyelids.
Most often, Down syndrome is not inherited – it is rather caused by an error in the cell division during the early development of the foetus. Some parents are at a higher risk of having a child with this genetic disorder. The risk factors include –
Old-age pregnancy – The chances of having a baby with Down syndrome increase as you grow older. This is because the more you age, the more risk the eggs have of improper chromosome division. Studies show that the risk of conceiving a baby with this condition goes up after age 35. Nevertheless, most children with genetic syndrome are born to people below 35 years of age since younger mothers are likely to give birth to more babies.
Genetic predisposition to Translocation Down syndrome – Both women and men may pass the genetic translocation for the condition on to their kids.
Having had a baby with Down syndrome – Parents, who themselves have a translocation or have had a baby with Down syndrome, have a greater risk of giving birth to a second child with the genetic condition.
How to prevent Down syndrome?
Down syndrome cannot be prevented. However, parents can take certain steps to lower the risk of having a child with this condition. Here are some steps to follow –
Plan an early pregnancy – If you wish your baby to be born healthy, it is best to start planning ahead of conception. In the majority of cases, birth defects happen during the initial 3 months of pregnancy, when the organs of the foetus are developing. Being ready from the beginning of the process can improve the chances of your baby’s good health.
Avoid toxic substances – Exposure to harmful substances, such as alcohol, tobacco, drugs, as well as substances found in the workplace, home, or environment may have severe consequences on the unborn child during pregnancy. These may also affect the mother’s health and ability to give birth. The best way to avoid risks is to stave off toxic substances. For example – quitting smoking can improve the likelihood of a mother giving birth to a healthy baby and avoiding certain birth defects, such as Down syndrome.
Turn to a healthy lifestyle – The health of the mother during pregnancy directly affects the health of the unborn child. There are several things, which you can do to keep yourself and your baby in the best of health during this time and lower the risk of birth defects in the baby. The key to opting for a healthy lifestyle starts with regular exercising, maintaining ideal body weight, and following a healthy diet that mainly includes vegetables, fruits, whole grains, healthy fats, lean proteins, and low-fat dairy.
Even if you cannot prevent Down syndrome, you can certainly ensure that your child is at the minimal risk of being born with the genetic disorder by following the above precautionary measures.
Most importantly, consult and discuss with your doctor about planning your pregnancy while you are still in your late 20s or early 30s, as well as about avoiding toxic substances, and opting for a healthy lifestyle.
21st March is observed as World Down Syndrome Day annually all across the globe. The day marks the importance of raising awareness about the genetic disorder, Down syndrome, among the public. The General Assembly summons all organizations and the Member States of the United Nations, as well as NGOs to celebrate World Down Syndrome Day in a proper manner.
The prevailing low expectations, negative attitudes, exclusion and discrimination ensure that those born with Down syndrome fall behind and lack opportunities to take part fully in decision making about all matters in life. This happens in society, as also within the Down syndrome community and disability community.
At the root of this exclusion and discrimination is a lack of knowledge of the challenges people face throughout their lifetimes and the failure to back them with the tools and opportunities required to participate in a meaningful way.
The 2020 theme of World Down Syndrome Day focuses on ‘We Decide’ – everyone with Down syndrome should have complete participation in decision making regarding the matters affecting, or relating to their lives. Meaningful and effective participation is the basic human rights principle backed by the UN Convention on the Rights of Persons with Disabilities.
As we strive to make people at large wary of Down syndrome, let us know some more about the disorder.
What is Down syndrome?
Down syndrome occurs when a child is born with an extra copy of the 21st chromosome. This is a genetic condition, which alters the course of normal development of the child, causing developmental delays and affecting their cognitive abilities.
Characteristics of Down syndrome
Children born with Down syndrome share some common distinctive physical characteristics.
Upward slanting eyelids
Short neck and small stature
A protruding tongue
A wide gap between the second and large toe
These people also have moderate to mild intellectual disability, for instance – learning disabilities, or delay in fine motor skills.
Screening and Diagnosis
Early diagnosis and screening are recommended for people at an increased risk of giving birth to a child with Down syndrome. Screening tests can evaluate the propensity of the disease being present. A few diagnostic tests can also reveal if the child will be born with Down syndrome.
Women aged between 30 and 35 years, or above, may receive genetic testing during pregnancy since the likelihood of having a baby with the disorder increases with age.
Living with Down syndrome
An encouraging home environment, premium educational programs, support from family, friends, and community, and good healthcare can help people with Down syndrome lead productive and fulfilling lives.