What Are the Different Kinds of Developmental Disabilities?

Those with developmental disabilities suffer from a wide range of symptoms, including difficulties with movement, cognition, communication, and behaviour. These disorders manifest in childhood, can have an effect on an individual's daily life, and typically persist throughout their entire life span.

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Developmental Disability – What is it?

Nowadays, a developmental disability is a widely diagnosed condition. Presently, 15% of children are identified as having some sort of developmental disability or delay. People of all racial and economic backgrounds can be affected by developmental disabilities.

A developmental disability, though, what does that mean? It's a generic term that can refer to a wide range of medical conditions. The Centers for Disease Control and Prevention define developmental disabilities as a spectrum of conditions characterised by significant difficulties in one or more of the following areas: physical function; cognitive functioning; language and social functioning; and behavioural functioning. These disorders manifest in childhood, can have an effect on an individual's daily life, and typically persist throughout their entire life span. Common developmental disabilities include attention deficit hyperactivity disorder, autism spectrum disorder, cerebral palsy, intellectual disability, and visual impairment.

Types of Developmental Disabilities

The severity of a person's developmental disability can vary widely. Examples of some of the most typical forms of developmental delay are:

Autism Spectrum Disorder (ASD)

Disorders of social interaction, communication, and behaviour are hallmarks of autism, a form of the autism spectrum disorder (ASD).

Autism Signs and Symptoms

Some of the symptoms or signs of autism in children or adults may include, but are not limited to:

• Not looking at something when someone else points it out
• Challenges relating to others
• There is no interest in other people.
• Avoiding direct eye contact
• A desire to be alone
• Difficulties understanding or discussing the feelings of others
• Refusing to be held
• When people speak to them, they appear to be unaware, but they are sensitive to other noises.
• Very interested in people, but unfamiliar with how to talk, play or relate with others
• Repeating words or phrases said to them, or using words in place of normal language
• Difficulties communicating needs using common words or gestures
• Repeating actions several times
• Difficulties adapting to routine changes
• Reacting abnormally to senses such as taste, appearance, feel, sound, or smell
• Loss of previously acquired skills, such as the inability to say previously used words by a child or adult

Chromosomal Abnormalities in Pregnancy

When a developing embryo has the wrong number of chromosomes, the wrong quantity of DNA inside a chromosome, or chromosomes that are architecturally defective, this is called a chromosomal abnormality. As a result, these irregularities can lead to miscarriage, stillbirth, a normal variation, or congenital impairments like Down syndrome.

Understanding Genes and Chromosomes

Countless individual cells work together to form your body. Each cell has a nucleus at its centre, and inside that nucleus are copies of DNA called chromosomes. The genes included on your chromosomes are what give you your unique appearance, blood type, and susceptibility to many diseases. 2

There are between 20,000 and 25,000 genes in each of the chromosomes, and there are 23 pairs of chromosomes in every cell in the body. Your mother's egg provides half of your chromosomes, while your father's sperm supplies the other half.

The first 22 sets of chromosomes are referred to as autosomes. Meanwhile, the last two chromosomes are known as allosomes. Allosomes, also called sex chromosomes, are responsible for establishing a person's sex and sexual orientation. Females have two X chromosomes (XX), while males have only one X and one Y. (XY).

Chromosomal Abnormalities and Miscarriage

One of the most common reasons for a miscarriage to occur in the first trimester is an abnormality with the chromosomes. Early miscarriage is often caused by genetic abnormalities that prevent the foetus or embryo from developing normally. When this occurs, the body usually reacts by ending the pregnancy on its own. However, in some cases of miscarriage, the tissue needs to be helped out of the uterus (by medicine or a treatment).

Sixty percent to seventy percent of first-time miscarriages may be attributable to chromosomal abnormalities. The miscalculation is usually an isolated occurrence, and the lady will go on to have a healthy baby in the future.

An abnormality where there are three copies of a chromosome rather than two is a leading cause of miscarriages. A trisomy describes this condition. Miscarriages in the first trimester are typically caused by genetic abnormalities such trisomy 16, which accounts for around 13% of all such cases, and trisomy 9, which accounts for about 5%. This particular chromosomal anomaly is more common in older women.

A molar pregnancy is another extremely unusual condition caused by chromosomal abnormalities. Tissues that normally develop into a fetus during a molar pregnancy instead form a benign tumour on the uterus. Molar pregnancies can be either:

• When an egg contains no genetic material and is fertilised by only one or two sperm, the result is a molar pregnancy. If the mother's DNA isn't there, the fertilised egg won't be able to make a foetus, so instead it will create a placenta that resembles a bunch of grapes.
• When an egg is fertilised by two sperm but only partially developed, the pregnancy is called a partial molar pregnancy. The result is an embryo with an aberrant number of chromosomes, faulty placental development, and a high likelihood of miscarriage.

What is Down Syndrome?

A person with Down syndrome has an extra chromosome. People without down syndrome have 46 chromosomes, but individuals born with the condition have 47.

Diagnosing Down Syndrome Usually Requires a Test

Normal testing for Down syndrome is performed in the early stages of pregnancy. There is a diagnostic test and a screening test for down syndrome. A pregnant woman's child's risk of being born with down syndrome can be estimated using the screening variant of the test. This is why a screening test can be useful in evaluating if a diagnostic test is required. One cannot be certain of a diagnosis of down syndrome with a screening test. The mother and child are less at risk from a screening test.

As a rule, a blood test and an ultrasound are used together as a screening for Down syndrome. Baby might have a genetic problem if ultrasonography detects extra fluid behind the baby's neck. This can help when determining if a baby is at risk for Down syndrome.

When a prenatal screening test for Down syndrome is positive, a further in-depth diagnostic evaluation is performed. Among the several diagnostic options for Down syndrome are:

• Chorionic villus sampling (CVS) - the placenta is the focus of this Down syndrome screening method.
• Amniocentesis - Amniotic fluid (the fluid in the sac around the infant) is tested for the presence of Down syndrome in this manner.
• Percutaneous umbilical blood sampling (PUBS) - umbilical cord blood is analysed for Down syndrome in this particular test.

The goal of these chromosome diagnostic tests for down syndrome is to identify chromosomal abnormalities that are characteristic of the disorder.

Down Syndrome Symptoms

Among the many physical manifestations of down syndrome, but not limited to:

• A flattening of the face, especially on the bridge of the nose
• Eyes with an upward slant and an almond shape
• A short neck
• Small ears
• The tongue frequently protrudes from the mouth.
• On the coloured part of the eye, there are small white spots.
• Undersized hands and feet
• A single line across the palm
• Pinky fingers that curve towards the thumb in some cases

Speech Disorders and Language Disorders

A child's language development accelerates dramatically throughout the first three years of life. It can be more difficult for a child to master these skills if they aren't exposed to language throughout this period. A language issue may exist if a child has trouble either comprehending what others say or expressing themselves verbally.

A delay in language development, such as a kid not beginning to talk until they are 3 or 4, could be an indication of a language issue. A speech issue may also be present in a child who has trouble pronouncing words correctly or who pauses or stutters when speaking.

Slurred speech or other difficulties producing spoken sounds are two possible indicators of a speech impairment.

Sensory Disorders or Sensory Impairment 

For those with what is known as a sensory processing disorder, taking in and processing information is difficult.

The following are symptoms that may be experienced by those with a sensory processing disorder:

• Coordination challenges
• Bumping into things
• The inability to tell where their limbs are in relation to space
• Difficulties participating in discussions or other forms of social interaction

Fetal alcohol and drug-related syndromes

In the weeks before you found out you were pregnant, if you drank alcohol, you may have been concerned about the effects it could have on your unborn child. Research on the effects of alcohol consumption in the first trimester of pregnancy is inconclusive, despite the fact that these weeks are crucial for the development of the embryo.

Research on Alcohol in Early Pregnancy

In the first trimester of pregnancy, drinking alcohol may hinder the baby's growth, according to some research. Other research, however, has found that drinking in the early stages of pregnancy is safe for the growing baby.

Evidence from studies also shows that a person's drinking pattern, such as having one drink per day versus binge drinking, is the most important factor in determining the impact of alcohol use on fetal development.

According to the CDC, drinking any amount of alcohol during pregnancy is dangerous.

Key Time of Development

Beginning at fertilisation and lasting through week 8, the embryonic stage of pregnancy is a time of rapid growth and development for all bodily systems and organs.

During the first four weeks of pregnancy, when many people aren't yet aware they are pregnant, the heart, central nervous system, eyes, arms, and legs of the foetus are developing. These organs and tissues are more susceptible to harm in their formative stages.

Drinking Pattern Is Significant

Faulty drinking habits during pregnancy have been demonstrated to have the biggest impact on a foetus in numerous investigations of foetal alcohol syndrome. Chronic drinking, heavy drinking, and binge drinking are the most risky drinking behaviours.

The Centers for Disease Control and Prevention (CDC) report that the severity of negative effects on the foetus is strongly influenced by the mother's drinking behaviour during pregnancy, particularly the timing and frequency of her drinking.

Study Finds No Adverse Effects

Pregnant women who drank alcohol during the first trimester did not have an elevated risk for having a baby born prematurely or with a low birth weight, according to a research of 5,628 women in the United Kingdom, the Republic of Ireland, New Zealand, and Australia. Pregnancy-related problems due to high blood pressure were not more likely to occur in these women.

When this report was first released in October 2013, it sparked intense debate.

Women who reported consuming seven or more drinks per week (approximately 15% of the population) had the same rate of premature birth and low-birth-weight babies as women who did not drink at all.

Genetic disorders - Pregnancy and Congenital Abnormalities

A genetic disorder or congenital anomaly is a condition that is present at birth and cannot be prevented. It can develop because of a problem with a person's chromosomes, a family history, or even their environment.

About 3% of babies in the United States are born with congenital defects, according to the Centers for Disease Control and Prevention (CDC). Both hereditary and environmental factors may be at play. Unfortunately, the root of several hereditary disorders remains a mystery.

In this article, we will discuss some of the most common genetic abnormalities that worry expecting parents, as well as their potential causes, risk factors, and the prenatal tests that can detect and diagnose these conditions.

Risk Factors

Frequently, mums with no known risk factors give birth to children with congenital abnormalities. However, if you fall into any of the following categories, your chances of having a kid with special needs rise:

• Are pregnant with more than one baby
• Had been exposed to a known risk factor, such as drugs or certain infections
• Have a family history of a genetic disorder
• Have a pre-pregnancy medical condition like diabetes
• Have a pregnancy over the age of 35
• Have had a previous pregnancy with a congenital abnormality
• IVF and other procedures to manipulate the egg and sperm were used.

Chromosomal Disorders

Chromosomal abnormalities are caused by an abnormal number of chromosomes or by the absence of an entire chromosome. If a chromosome is absent or duplicated, it usually kills the organism. Miscarriage is a common outcome of these pregnancies. However, some birth defects involving the baby's chromosomes are possible.

• Down Syndrome (Trisomy 21): Most babies born with chromosomal abnormalities have Down syndrome. About one of every 600 newborns is affected. With an older mother, the odds increase. One in every 45 babies born to mothers over the age of 45 will have Down syndrome. The community supports families who have a child diagnosed with Down syndrome. People with Down syndrome can have happy, successful lives if given the proper resources and encouragement.
• Patau Syndrome (Trisomy 18) and Edward's Syndrome (Trisomy 13): About 1 in every 4,000 births is affected by trisomy 18, and the incidence of trisomy 13 is even lower. The severity of these disorders generally increases. Heart abnormalities are just one of several issues faced by infants born with these genetic diseases. It's uncommon for them to make it past their first year.
• Turner Syndrome: Only 1 in every 4,000 female infants is born with Turner syndrome. A child born with Turner syndrome only receives one X chromosome instead of the usual pair (45 X). Intelligence is unaffected by Turner syndrome, but height and fertility can be. Women with Turner syndrome can live long, healthy lives despite the possibility of some health complications.
• Klinefelter Syndrome: Another male-specific chromosomal disease. About 1 in 500 to 1,000 newborn boys have an extra X chromosome (46 XXY). Less testosterone is produced by boys with Klinefelter syndrome. They tend to be tall for their age and may have difficulties with learning. Klinefelter syndrome affects mostly males, yet many of them have relatively modest symptoms throughout their lifetimes.

Hereditary Disorders 

Diseases that run in families can be traced from generation to generation. Most genetic disorders are recessive, meaning that both of the affected genes must be present in order for the ailment to manifest in the offspring.

One gene makes a person a carrier but not a sufferer of the disease. The likelihood of passing on a disorder increases dramatically if both parents are carriers.

Certain genetic abnormalities are more prevalent in certain racial/ethnic groups. The likelihood of passing on some genetic disorders from parent to child increases when both parents share the same ancestry. These disorders are more prevalent in some populations than others, although they are still quite uncommon overall.

• Cystic Fibrosis (CF) is a hereditary condition seen primarily in people of European descent. Lung function and other organs are compromised by cystic fibrosis. Approximately 1 in 3,500 white newborns have it, and it occurs far less commonly in other ethnic groups.
• Sickle-Cell Anemia in persons of African descent, it's the most frequent genetic condition. Sickle cell disease is a disorder that damages the red blood cells and affects about 1 in 70,000 Americans. Among African Americans, however, that number drops to 1 in 500.
• Tay-Sachs Disease primarily affects those of European Jewish descent but has also been documented among those of French Canadian descent. Nerves in the brain and spinal cord are particularly vulnerable to Tay-destructive Sachs's effects. About 1 in every 320,000 newborns has Tay-Sachs in the general population.
• Beta Thalassemia is a hereditary condition that tends to affect persons who live in the Mediterranean. Anemia is the result of beta thalassemia, a blood condition that prevents the body from producing enough healthy red blood cells. In the general population, it occurs at a much lower frequency of 1 in 100,000 births, however it occurs in about 1 in 10,000 births in the European Union.

Developmental Delay vs. Disability

Developmental delays are a common term used by medical professionals to describe children with difficulties. This incorrect euphemism is often used. In the end, even a late train gets to its destination, because waiting for something isn't the same as not getting it at all.

Most cases of developmental delay can be traced back to a faulty gene. Your genes are something you can never change. That's why kids can't "grow out of it" when they're diagnosed with a developmental disorder.

Be very sceptical of claims that a child's developmental handicap has been "fixed" overnight. It's likely that the child's impairment was relatively moderate, and that intensive treatment helped them greatly. Therefore, the child may, at least temporarily, be able to perform at an age-appropriate level.

Functioning as Adults

Individuals born with developmental disabilities continue to struggle with those impairments as adults. Their degree of functioning (as well as their social, economic, and professional success) will be determined by a variety of circumstances.

Early Therapy

Functioning levels in adulthood may be affected by the quantity and quality of therapy received as children. An individual's chances of success as an adult are improved if, as a kid, he or she receives rigors, age-appropriate therapies that help him or her develop necessary skills and a sense of self-worth.

Personality

Individuals with developmental disabilities vary greatly. Although some persons with disabilities may identify with the former word, others are driven to live as independently and successfully as possible despite their challenges. Individual variations are a major factor in results.

Social Network

It's possible for an adult with a developmental disability to live in complete isolation, or they could be embraced by a supportive network of loved ones. It makes sense that thriving requires a supportive network of friends and neighbours who know and care about you.

Severity

Disability severity is also a factor in how an individual fares as an adult with the condition. An adult with a mild handicap might be able to compensate for their situation or develop necessary abilities to the point where they need minimal assistance in daily life.

Type of Disability

A person with a developmental disability (such as spina bifida) may be able to hold down a career and maintain positive social relationships despite needing extensive assistance with physical tasks. While some conditions, like Down syndrome, may allow for relatively normal social functioning, they may necessitate further accommodations in the workplace.

How do you determine if your child has a developmental disability?

Developmental milestones include achievements like a child's first steps, smile, and "bye, bye" wave. There are developmental milestones in a child's play, learning, language, behaviour, and physical development, such as when he or she first starts to crawl and then walk.

You should keep an eye out for signs that your child is maturing normally. While every kid grows and develops at their own speed, these typical stages might help you anticipate your child's progress.

Your child may have a developmental disability or delay if he or she is not reaching the typical milestones for his or her age. Please discuss your concerns with your child's doctor if you notice anything out of the ordinary. For the most part, the prognosis improves with prompt medical attention, therefore you shouldn't delay.

Causes and Risk Factors

Disabilities in cognitive, social, or communicative functioning that manifest throughout childhood or adolescence are the most common forms of developmental disabilities. However, some developmental abnormalities can occur after birth due to circumstances such as injury or illness.

Multiple factors working together are likely responsible for the majority of developmental delays and impairments. These include prenatal exposure to environmental contaminants like lead, as well as the mother's or child's genetic makeup, the mother's and father's health and habits (such smoking and drinking), delivery problems, and maternal or infant infection. There are some cases of developmental disorders for which the aetiology is known; for example, foetal alcohol syndrome is caused by alcohol consumption by the mother during pregnancy. But in most cases, we don't.

Some specific developmental problems for which we have knowledge are as follows:

• Birth difficulties, infections including cytomegalovirus (CMV), and head injuries all contribute to infant hearing loss, which affects at least 25% of children.
• Fetal alcohol syndrome, genetic and chromosomal abnormalities like Down syndrome and fragile X syndrome, and infections during pregnancy are some of the most common recognised causes of intellectual disability.
• Children with a sibling who has autism spectrum disorder are at a greater risk of developing the disorder themselves.
• Developmental problems are more common in children who were born with complications, such as those who were born prematurely, had multiple births, or had infections during pregnancy.
• Jaundice in a newborn infant that has not been treated Kernicterus is a form of brain injury caused by elevated levels of bilirubin in the blood within the first few days of life. Kernicterus increases the risk of other health issues, such as CP, hearing loss, vision impairment, and dental issues, in children. If infant jaundice is caught and treated in time, kernicterus can be avoided.

The Centers for Disease Control and Prevention (CDC) is supporting a long-term study called the Study to Explore Early Development (SEED). In an effort to better understand the causes of autism spectrum disorders and other developmental problems in children, this study is the largest of its kind ever conducted in the United States.

In order to maintain their health, independence, and social inclusion, children and adults with disabilities require access to health care and health services just like everyone else.

A person's ability to maintain good health is not affected by having a disability. All of us have a common definition of health: it is the state of being physically and mentally fit to participate fully and actively in life. This involves the resources to make healthy decisions and the knowledge to avoid being sick. It has been observed that children with developmental disabilities have an increased prevalence of certain health issues. These include asthma, gastrointestinal complaints, eczema and skin allergies, and migraine headaches. This means that regular doctor's visits are essential for children with developmental impairments.