What is congenital disabilities
What is a congenital disorder?
What is a congenital disorder? | Pregnancy Birth and Baby beginning of content5-minute read
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What is a congenital disorder?
A congenital disorder is a condition that is present from birth. Congenital disorders can be inherited or caused by environmental factors. Their impact on a child’s health and development isn’t always severe, and sometimes it can be quite mild. However, a child with a congenital disorder may experience a disability or health problems throughout life.
It’s natural to be concerned about congenital disorders if you’re pregnant or planning a pregnancy, especially if your family has a history of a particular disorder. It’s possible to test for some, but not all disorders during pregnancy, and there are also things you can do to reduce the chances of your baby being born with a congenital disorder.
What are the most common congenital disorders?
Some common congenital disorders are:
- cleft lip and cleft palate — usually diagnosed during routine scans in pregnancy
- congenital heart disease — including a hole in the heart, a valve problem or a problem with the blood vessels. These are usually diagnosed during routine scans in pregnancy or during newborn screening.
- cerebral palsy — usually diagnosed in the first few years of life
- Fragile X syndrome — may be diagnosed through genetic testing during pregnancy or in the first few years of life
- Down syndrome (Trisomy 21) — usually diagnosed through genetic during pregnancy
- spina bifida — usually diagnosed during routine scans in pregnancy
- cystic fibrosis — usually diagnosed during newborn screening
What tests for congenital disorders are available in pregnancy?
Testing for some congenital disorders, such as Down syndrome, can be performed using a blood test from 10 weeks of pregnancy onwards.
Although many parents choose to have tests during pregnancy, it is not compulsory. Some parents choose not to have tests.
Screening tests are designed to identify babies who may be at increased risk of a congenital disorder. If a screening test does not rule out your baby having a congenital disorder, the next step is to have a diagnostic test.
Diagnostic tests, such as ultrasound scans, blood tests and sometimes urine tests, aim to identify babies who have a congenital disorder and to find out what that disorder is.
However, it is not possible to test for all congenital disorders during pregnancy, and testing is not perfect.
Chorionic villus sampling (CVS)
Chorionic villus sampling, or CVS, is usually performed between 10 and 13 weeks of pregnancy if screening tests show your baby may have a congenital disorder. CVS can be used to diagnose babies with Down syndrome or other genetic conditions. You would be given a local anaesthetic and a doctor would use a needle to collect a small sample of cells from your placenta, which is then sent for testing.
Amniocentesis
This test is done after 15 weeks of pregnancy and may be done instead of, or as well as CVS. It can provide a definite answer as to whether your baby has Down syndrome or another congenital disorder.
Amniocentesis involves taking a small amount of fluid from around your baby, using a needle and after a local anaesthetic, which is then sent for testing.
There is a very small risk of miscarriage with both CVS and amniocentesis.
Can congenital disorders be prevented?
If you have a personal or family history of certain congenital disorders, you can have genetic tests before you become pregnant. You may wish to meet with a genetic counsellor to discuss your family history, the likelihood your baby will have any congenital disorders, and possibly to arrange to have genetic testing.
If you are having in vitro fertilisation (IVF) treatment, your embryo can be tested at 2 to 4 days old, before it is implanted into your uterus.
Other things you can do to try to prevent congenital disorders include:
- eating a healthy diet with enough vitamins and minerals, in particular folic acid, during the reproductive years
- taking folic acid supplements before you become pregnant and for the first trimester of pregnancy
- avoiding alcohol, smoking and other drugs because these can harm the fetus
- controlling diabetes and gestational diabetes
- avoiding exposure to chemicals in your environment, such as pesticides or lead
- being vaccinated, especially against rubella
Newborn testing and assessment
A paediatrician and other health professionals examine your baby in the first few days of life to check for hearing problems, heart conditions, and blood, metabolism and hormone disorders.
This is called newborn screening. Early detection of such problems can often prevent them from becoming more serious physical, intellectual, visual or hearing disabilities.
Sources:
Raising Children Network (Tests in pregnancy), Raising Children Network (Newborn screening), Raising Children Network (Antenatal tests: chromosomal abnormalities and other conditions), Raising Children Network (Congenital heart disease), World Health Organization (Congenital anomalies), The Royal Children's Hospital Melbourne (Cleft lip and palate), Cerebral Palsy Alliance (Signs and symptoms of Cerebral Palsy), Fragile X Association of Australia (Testing and screening for Fragile X), NSW Health Centre for Genetics Education (Screening tests during pregnancy), Sydney Children's Hospitals Network (Spina bifida)Learn more here about the development and quality assurance of healthdirect content.
Last reviewed: June 2021
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Pregnancy, Birth and Baby is funded by the Australian Government and operated by Healthdirect Australia.
Pregnancy, Birth and Baby is provided on behalf of the Department of Health
Pregnancy, Birth and Baby’s information and advice are developed and managed within a rigorous clinical governance framework. This website is certified by the Health On The Net (HON) foundation, the standard for trustworthy health information.
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
This information is for your general information and use only and is not intended to be used as medical advice and should not be used to diagnose, treat, cure or prevent any medical condition, nor should it be used for therapeutic purposes.
The information is not a substitute for independent professional advice and should not be used as an alternative to professional health care. If you have a particular medical problem, please consult a healthcare professional.
Except as permitted under the Copyright Act 1968, this publication or any part of it may not be reproduced, altered, adapted, stored and/or distributed in any form or by any means without the prior written permission of Healthdirect Australia.
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Disability – World Bank Student Resource “Do You Know…?”
What does this mean?
Disability is a condition in which a person, due to his physical or mental condition, loses the ability to perform normal functions.
Disabilities can be physical (eg, paralysis, loss of a limb, deafness), mental (eg, depression or post-traumatic stress), and mental (eg, learning disabilities).
Some people are already born with some disabilities, others become disabled as a result of an accident or illness. There are various degrees of disability: from moderate to severe, from temporary to permanent. Persons with disabilities can improve if they live in a community that supports them and if they have good educational and employment opportunities.
Some statistics:
- According to the World Health Organization (WHO), there are 750 million people with disabilities in the world.
- 80% of people with disabilities live in developing countries.
- 10% of the population of poor countries are disabled.
- Every tenth child in the world lives with a disability.
- In poor countries, only 2-3% of children with disabilities go to school.
These figures are largely underestimated because people with disabilities in most cases live in conditions of exclusion, exclusion and rejection and therefore are often not included in censuses.
Families hide children with disabilities, preventing them from participating in family or social life.
Why does this concern me?
Disability leads to poverty.
If people with disabilities are unable to go to school or find a job, they tend to be the poorest of the poor because they don't get any skills.
In developing countries, many people think that children with disabilities cannot learn or develop any skills and are therefore not expected to do much. As a result, persons with disabilities do not contribute to the development of communities and are considered only a burden.
But poverty contributes to an increase in the number of people with disabilities.
The poor are more at risk of becoming disabled. At the same time, they have a much lower chance of recovering their ability to work. This increases the likelihood that they and their families will remain poor.
Children may be handicapped from birth…
Some children are born with various disabilities because their mothers did not receive medical care during pregnancy or had problems during childbirth.
There are cases when children are born with disabilities for unknown reasons.
Or become disabled during life…
Children can become disabled in childhood due to poor nutrition, preventable childhood diseases such as polio, or accidents.
In countries that have been at war, there are a large number of disabled people who were injured during the conflict. If such people, especially men, are suddenly disabled and unable to provide for their families, their material well-being deteriorates and they become poor.
People living in areas of conflict or natural disasters (such as hurricanes or droughts) are extremely affected by depression, anxiety, and post-traumatic stress disorders.
Think about it
How does disability affect some countries?
In Uganda the probability that a disabled person will be poor is 40% higher compared to ordinary people. Children living in families with disabled members have far fewer opportunities to go to school.
In Serbia the share of the poor among the disabled is 70%.
In Honduras 51% of disabled people are illiterate against 19% of the illiterate among the general population. Only 31.5% of disabled people have a job, while among ordinary people this figure is 50.8%.
What is the global community doing?
Attitudes towards disability in developing countries
Disability is not just a health problem. The understanding of who is disabled is determined by people's culture. For example, if a deaf child can lip-read and lives with people who know sign language, he may not be considered disabled and considered as a person participating in society.
Inclusion of persons with disabilities in society
Disabled people need to be helped to become productive members of society, as this will increase the welfare and well-being of the entire community. Sometimes the solutions are quite simple: providing children with reading glasses, providing wheelchairs for those who need them, or building buildings with wheelchair ramps.
Prevention of disability
In addition to helping people with disabilities, international organizations such as UNICEF, WHO and the World Bank carry out activities aimed at preventing disability, namely:
- improve health care in poor countries so that pregnant women and children receive proper medical care.
- Provide conditions for children with disabilities to go to school and learn how to earn a livelihood.
- Clearing fields to prevent people from stepping on a mine.
The World Bank supported the creation of the Global Partnership for Disability and Development, an organization that coordinates donor countries, development agencies, nongovernmental organizations, and recipient governments.
What can I do?
Visit these websites to learn more about disability:
- Save the Children
For information about opportunities to become involved with disability volunteer organizations in communities around the world, see the list of organizations.
Additional resources
- UN activities
- Convention on the Rights of Persons with Disabilities (student version)
- International Day of Persons with Disabilities (December 3)
- World Autism Awareness Day (April 2)
- 2030 Sustainable Development Goals
More information on the World Bank website
How to apply for disability in 2022
There are 11 million 631 thousand people with disabilities in Russia. Every twelfth inhabitant of the country is an adult or a child with a disability. This status often means not only physical, but also social restrictions: from difficulties with training and employment to visiting shops and theaters. To support such people around the world, the UN 15 years ago opened the Convention on the Rights of Persons with Disabilities for signing. And ten years ago this document was ratified in Russia. What has changed during this time - understood our publication.
In 2021, according to Rosstat, 11 million 631 thousand citizens with disabilities lived in Russia. Of these, 6 million 499 thousand women and 5 million 134 thousand men had this status. There are 704 thousand children with disabilities in Russia, according to the latest official data.
The list of diseases for disability in Russia has not changed for several years. Among the main causes are general diseases and occupational injuries. Among them: diabetes, heart attack, asthma, epilepsy, oncology and even depression and psoriasis, as well as amputation and others.
At the same time, the list of causes of childhood disability is different: mental illness and mental retardation are in the first place with 30 percent of all diagnoses, then (24 percent) - congenital anomalies, then (10) - disruption of the endocrine system, and, finally, neurology and disorders motor function (8 and 5 percent, respectively).
Where disabled people live best
According to Rosstat, most disabled people live in the Central Federal District.
Here, the largest population, respectively, and the number of disabled people is greater. A smaller number of disabled people was noted in the Volga Federal District. Next comes the Northwestern Federal District, where St. Petersburg dominates. The smallest number in the Far East. And in the Chukotka Autonomous Okrug there are less than two thousand such people.
Regions differ not only in the number of people with disabilities, but also in the conditions that they can provide. The latest rating of regions with the most accessible social infrastructure for such people was compiled by the Ministry of Labor even before the pandemic, in 2018.
At the same time, in Russia as a whole, 64.1 percent of social facilities, according to the Ministry of Labor, then turned out to be accessible to people with disabilities.
What does the convention prescribe? As a result, in 2006, the UN adopted the Convention on the Rights of Persons with Disabilities. In 2007, the document was opened for signing by countries, and in 2008 the convention entered into force.
According to the document, the signatory countries undertake to ensure the realization of all human rights and freedoms without discrimination based on disability. And for this they guarantee, for example:
- accessibility of persons with disabilities to transport, to information and communications, as well as to facilities and services;
- recognition of the rights of persons with disabilities to education and ensuring access to it;
- expansion in the labor market of employment opportunities for disabled people and their promotion;
- providing persons with disabilities with the same range of free or low-cost health care services and programs as others. And so on.
What has changed in Russia
It took several years to bring Russian legislation into line with these and other norms. For this, 36 federal and 715 regional legislative acts were adopted, the Government reported on the work done in 2016.
In real life, this was embodied in thousands of ramps installed throughout the country, the creation of specially designated parking spaces for the disabled, the purchase of automobile and urban transport available for the transportation of disabled people.
During the first five years of the implementation of the state program, the number of schools where disabled children could study increased by 4.8 times, and the number of institutions for adaptive sports for disabled people increased from 15 in 2011 to 57 institutions in 2016. Also, on six all-Russian TV channels, the number of subtitles increased from 3 to 14 thousand hours a year, which amounted to almost 30 percent of the airtime.
Work to ensure the rights of disabled people in Russia continues today, State Duma deputy, chairman of the All-Russian Society of Disabled People Mikhail Terentyev told Parliamentary Newspaper.
“A large block of bills was adopted in 2021, it is also planned to make changes to the legislation in 2022,” the deputy said.
New in 2022
Thus, from January 1, pensions for disabled people are calculated automatically. The new procedure involves the appointment of insurance and social disability pensions on a non-declared basis. At the same time, information about a person enters the Pension Fund through a system of interdepartmental interaction. And the process of assigning a pension takes no more than five days, after which the person receives a notification.
“Thanks to the new rules, people with disabilities will receive their pension within a month after being appointed and without unnecessary bureaucracy,” said Terentiev.
From March 1, the size of the quota for employees with disabilities will depend on the number of employees of the enterprise. Such amendments have been made to the Law “On Employment in the Russian Federation”. As with the current rules, the size of the quota will depend on the number of employees. Thus, for employers with more than 100 employees, a quota for hiring disabled people is set in the amount of 2 to 4 percent of the average number of employees.
For employers whose number of employees is from 35 to 100 people inclusive - no more than 3 percent of the average number of employees. The specific size of the quota is determined by the legislation of the subject.
In addition, as of March 1, the requirements for employment of disabled people will be stricter. Since that time, a legislative norm has come into force that supplements the measures of social protection of persons with disabilities in the field of employment. According to these changes, the quota for the disabled will be considered fulfilled by the employer only when formal employment contracts are concluded with the required number of people with disabilities.
“Before that, it was enough if the employer simply created such positions and announced them, which was not always true,” commented the deputy.
Also, until July 1, 2022, disability can be obtained in a simplified manner. Until that time, the Temporary procedure for recognizing a person as a disabled person has been extended, which simplifies the procedure for registering a disability, without the personal presence of a citizen.
“This allows us to minimize social contacts of citizens during the period of countering the spread of coronavirus infection,” said Mikhail Terentyev.
In addition, the State Duma passed a bill on free hospitalization of disabled children with their parents in the first reading.
“Currently, free hospitalization with parents is provided only for children under four years of age. The new document recognizes the status of a "disabled child" as a sufficient basis for making a decision on the presence of such a child together with one of his relatives in a hospital at no cost to him, without additional medical indications. the deputy said.
Another document that is planned to be adopted in the spring session is on free higher education for certain categories of disabled people. This rule is planned to be extended to citizens who, having received a disability, are unable to work in their former specialty. The document has already passed the first reading and is ready for further consideration, Mikhail Terentyev specified.
Where to start?
The deputy also told in detail how to apply for disability under the new rules and what changes may appear in this procedure in the near future. According to the rules valid until July 1, 2022, the procedure for registering disability has been simplified. It is carried out without the personal presence of a citizen.
“This makes it possible to minimize the social contacts of citizens during the period of countering the spread of coronavirus infection,” said Mikhail Terentyev.
Specialists of the medical and social expertise make an absentee decision on the establishment of disability both for the first time and when extending disability based on documents issued by medical organizations, the expert clarified.
“If a disability is registered for the first time, then the medical organization itself sends the entire package of documents for a citizen to the ITU bureau in the form of an electronic document or on paper,” the deputy said.
At the same time, a citizen must contact a medical organization and undergo the necessary specialist doctors and examinations.
“If during the period of the Temporary Order a disabled child reaches the age of 18, then the extension of disability is carried out by establishing I, II or III disability groups for a period of 6 months,” the expert said.
After July 1, the medical and social examination will work, taking into account the proposed changes in the rules for recognizing a person as disabled. They are being considered right now, said Terentyev.
Basic offerings are as follows:
- the introduction of a provision according to which a citizen can choose between full-time and part-time examination;
- normative consolidation of the provision on the remote form of appealing against the decision of the ITU in a higher authority;
- the introduction of a single consent of a citizen to conduct activities and examinations provided for by the program of additional examinations (the citizen will have the right to refuse to conduct additional examinations, in this case, the decision to recognize a citizen as disabled or to refuse to establish disability should be made on the basis of information available to the ITU) .
What else is required?
In addition to the benefits listed above, which came into force in 2022, people with disabilities are entitled to other benefits.
Benefits in the sphere of labor
For employees with group I or II disability, the working week may not exceed 35 hours. For all disabled people, regardless of the disability group, an annual paid leave of at least 30 calendar days a year is established, and unpaid leave is also provided for up to 60 calendar days a year.
“At the same time, employment services should work in a proactive mode, help a person with a disability in finding a job and adapting to the workplace. On the Jobs in Russia website, you can find vacancies within the framework of the quota system for jobs for the disabled,” advised Mikhail Terentyev.
Also, one of the parents (guardian or custodian) for the care of disabled children, upon his written application, is provided with four additional paid days off per month
Benefits in the field of housing and communal services
Disabled people and families with disabled children are provided with 50 percent compensation for housing and utility bills.
"Also, disabled people of groups I and II, disabled children, citizens with disabled children, are provided with compensation for the cost of paying a contribution for major repairs in the amount of 50 percent," the expert said.
Tax benefits
Disabled people of groups I and II, disabled since childhood, children with disabilities are exempted from paying property tax (in relation to one object).
“When paying land tax, a benefit is provided in the form of a reduction in the tax base by the amount of the cadastral value of 600 square meters of one land plot (disabled people of groups I and II; disabled children, disabled children; disabled veterans of the Second World War and disabled combatants)”, — specified expert.
In addition, disabled people are provided with benefits in the field of education (when entering a university), in the field of transport (to pay for OSAGO, free parking, when paying for public transport, railway and air transport), free provision of technical means of rehabilitation, preferential provision medicines.
