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What Is Down Syndrome?
Down syndrome is a genetic condition that causes mild to serious physical and developmental problems.
People with Down syndrome are born with an extra chromosome. Chromosomes are bundles of genes, and your body relies on having just the right number of them. With Down syndrome, this extra chromosome leads to a range of issues that affect you both mentally and physically.
Down syndrome is a lifelong condition. Although it can’t be cured, doctors know more about it now than ever. If your child has it, getting the right care early on can make a big difference in helping them live a full and meaningful life.
Down Syndrome Symptoms
Down syndrome can have many effects, and it’s different for each person. Some will grow up to live almost entirely on their own, while others will need more help taking care of themselves.
Mental abilities vary, but most people with Down syndrome have mild to moderate issues with thinking, reasoning, and understanding. They’ll learn and pick up new skills their whole lives, but they may take longer to reach important goals like walking, talking, and developing social skills.
People with Down syndrome tend to have certain physical features in common. These may include:
• Eyes that slant up at the outer corner
• Small ears
• Flat noses
• Protruding tongue
• Tiny white spots in the colored part of the eyes
• Short neck
• Small hands and feet
• Short stature
• Loose joints
• Weak muscle tone
Many people with Down syndrome don’t have any other health issues, but some do. Common conditions include heart problems and trouble hearing and seeing.
Down Syndrome Causes and Risk Factors
For most people, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother and the other comes from your father.
But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21. That means you have three copies instead of two, which leads to the symptoms of Down syndrome. Doctors aren’t sure why this happens. There’s no link to anything in the environment or anything the parents did or didn’t do.
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While doctors don’t know what causes it, they do know that women 35 and older have a higher chance of having a baby with Down syndrome. If you’ve already had a child with Down syndrome, you’re more likely to have another one who has it as well.
It’s not common, but it is possible to pass Down syndrome from parent to child. Sometimes, a parent has what experts call “translocated” genes. That means some of their genes aren’t in their normal place, perhaps on a different chromosome from where they’d usually be found.
The parent doesn’t have Down syndrome because they have the right number of genes, but their child may have what’s called “translocation Down syndrome.” Not everyone with translocation Down syndrome gets it from their parents -- it may also happen by chance.
Types of Down Syndrome
There are three types of Down syndrome:
• Trisomy 21. This is by far the most common type, where every cell in the body has three copies of chromosome 21 instead of two.
• Translocation Down syndrome. In this type, each cell has part of an extra chromosome 21, or an entirely extra one. But it’s attached to another chromosome instead of being on its own.
• Mosaic Down syndrome. This is the rarest type, where only some cells have an extra chromosome 21.
You can’t tell what type of Down syndrome someone has just by how they look. The effects of all three types are very similar, but someone with mosaic Down syndrome may not have as many symptoms because fewer cells have the extra chromosome.
Down Syndrome Diagnosis
A doctor may suspect Down syndrome in a newborn based on the baby’s appearance. That can be confirmed by a blood test called a karyotype test that lines up the chromosomes and will show if there’s an extra chromosome 21.
Down Syndrome Screening in Pregnancy
Routine tests done during pregnancy can check if it’s likely your baby has Down syndrome. If those results are positive, or if you’re at high risk, you may choose to have additional, more invasive tests to be certain.
The links between language and cognition
Children with Down syndrome are expected to show cognitive delay, to be slower in developing their awareness and understanding of the world and to think reason and remember. This cognitive delay may be in part the consequence of the language learning difficulties. Any serious language delay will inevitably result in increasing cognitive delay as language is such a powerful tool for gaining knowledge and for understanding, thinking, reasoning and remembering. Conversely the more we can do to overcome the children's language learning and speech difficulties then the better equipped they will be to learn and improve their cognitive abilities.
Learning to talk
The focus of this article is on learning to talk, but learning to talk is not the only form of communication available to us, though it is the most powerful, and research suggests that it is built on babies' experience of communicating in the first year of life in several ways.
Communicating before talking
Babies have experience of communicating in the first months of life and they soon learn that they can control their parent's behaviour, for example, by smiling and crying. They begin to understand people, their behaviour and moods and to know when someone is happy, sad or angry from the clues provided by tone of voice, facial expression and behaviour. This is the first step on the pathway of social and emotional development.
Early conversations
Once babies begin to smile parents begin to have interactions with them that are like conversations. We smile, coo and talk to the baby and tend to do this in conversational style, waiting for the baby to smile, gurgle or babble after each of our actions. These exchanges are usually a source of pleasure to both partners and strengthen the emotional bonds. If adults spend time in these baby conversations, it is the child's first experience of pleasurable "talk" with an adult and they begin to understand that being able to communicate is fun and that it is worth becoming skilled at this activity. They also learn to look, listen and take-turns in the conversation, all essential skills for effective communication when talking.
Initiating conversations
Research has shown that babies with Down syndrome, while a little later to smile and enter into these conversations, are as interested as ordinary babies in these social games and spend the same amount of time engaging adults in this kind of activity in the middle of the first year of life . However the studies have shown that when ordinary babies begin to spend proportionately more time exploring their visual world the babies with Down syndrome do not do this to the same extent. They are still more interested in people. Nor do they move on to use eye-contact to engage the adult in their activities at the end of the first year of development, in a way which has been described as referential eye-contact.
Language learning opportunities
When babies make referential eye-contact and draw the adult's attention to what they are doing, the adult tends to talk and give the baby the words to describe what they are doing or thinking about, so the babies' skill at referential eye-contact may influence the amount of language learning opportunities experienced. Studies by Olwen Jones (Jones 1980) have also shown that the babies are not always skilled at turn-taking. They tended not to leave predictable pauses when babbling and vocalising making it difficult for their mothers to contribute to the conversation. This may also have a negative effect on language learning opportunities.
Cracking the code
If a baby is to learn to talk he or she has to "crack the code". Imagine yourself in a foreign country staying with a family who speak no English and you do not speak their language at all. Think how you would begin to pick up the foreign language. You would be likely to learn some nouns and verbs for everyday objects, people and actions. Your hosts would probably help by holding up objects and naming them, pointing and gesturing. You will learn by watching and trying to guess the probable content of their communications from the context in which they are happening. You will hear a request and see the following action as someone passes the salt at the table or goes to the kitchen to wash the dishes. Social words like hello and goodnight, please and thank-you, should not be too difficult to pick up and before long you will be able to get by, managing to make yourself understood by stringing the keywords you have learned together but it will take much longer to master the grammar and the syntax of the language. A baby learning his or her first language faces a similar task and proceeds in much the same order.
First words
The process of learning first words and building up a vocabulary is referred to as lexical acquisition. There has been quite a lot of research on the lexical development of children with Down syndrome, looking at the speed of learning words and the factors that may affect this.
Understanding
Before being able to use words to talk, the baby has to begin to learn their meanings. In order to do so the baby needs to hear language in situations where the context and actions will give him the necessary clues to "crack the code". It is no coincidence that the first words that all children understand and use are those that refer to objects, people and experiences in their everyday world. These are the words they have heard used in context day after day.
She concludes that there are three major similarities between children with Down syndrome and ordinary children at this stage. First, young children initially believe that when an adult points or indicates an object for which the child does not already have a name, the accompanying word refers to the whole object rather than some attribute of the object. Second, the first words that all the children learn are words for objects that either are capable of moving independently or can be manipulated by the child. Thirdly, the first set of concrete nouns acquired by both sets of children represent basic level categories, that is those that are the easiest to identify perceptually.
attention to some evidence for differences in the way mothers of children with Down syndrome and mothers of ordinary children are talking to their children at this stage and suggests this may affect their rate of vocabulary acquisition and conceptual development.
Once children understand some words they soon begin to try using them to communicate.
Speech production delay
A number of studies have drawn attention to the delay in beginning to talk in children with Down syndrome relative to their level of language comprehension.
The children's receptive and expressive language skills were compared with measures of their non-verbal cognitive abilities. They report that there was no evidence of productive delay until the stage at which first words should be produced.
Below 18 months of age language comprehension and production skills were equal to non-verbal cognitive ability for all the children, but from 18 months on an increasing proportion of the children showed delay in language production relative to their language comprehension and their language comprehension was equal to their non-verbal cognitive ability. The proportion of children showing this profile increased with age, accounting for 60% to 75% of the children over 18 months of age. The remaining 40% to 25% of children with Down syndrome had no delay in their expressive language skills relative to their level of language comprehension.
Variability in all children
The researchers pooled the data for all the children and were able to identify three groups, which they describe as slow, average and fast in their rate of vocabulary acquisition. In the average group there were 9 children with Down syndrome and 11 ordinary children, in the slow group 11 with Down syndrome and 4 ordinary and in the fast group 8 ordinary children only. These results emphasise the wide variation in language development seen in all children. By the end of the study, 4 children thought to be showing ordinary development twelve months earlier were now classified as language delayed and in need of remedial help. 9 children with Down syndrome were in the average group and were learning words at about the same rate as almost half the ordinary children.
The data show that all children vary widely in the rate at which they acquire vocabulary and that the variability cannot be explained by rate of cognitive development as measured by the Bayley Scales of Infant Development at this stage. On average the fast group learned 38 words, the average group 23 words and the slow group 5.6 words per month of mental age gain. Miller suggests that these differences should be the next focus for research effort and one possibility to be explored is the amount and style of mother's speech to their children as this has recently been shown to affect the rate of vocabulary acquisition in ordinary children.
Researchers have already devoted quite a lot of effort to investigating the way in which mothers talk to children with Down syndrome but these have mainly been experimental studies in which mothers and babies have been filmed in a play session. Some reviewers conclude that these studies have not shown any consistent significant differences in styles of mothers' speech to the children if children are at the same stage of speech production. Others do suggest that the verbal and non-verbal interactions between mothers and children with Down syndrome may be influenced by the children's difficulties in ways that may affect language learning No studies have actually looked at the variations in amount or style of daily talking between mothers and children with Down syndrome to see if this influences their progress and explains some of the wide variations in progress report.
Two words together
Once children have established a single word vocabulary of about 50 words they begin to use two-word phrases. While children with Down syndrome use the same range of two-word constructions in their speech they tend to have a larger single word vocabulary when they begin to put two words together (about 100 words rather than the 50 word vocabulary size that is usual for ordinary children). Another study by Miller and his colleagues illustrated that compared with ordinary children they continue to have a larger overall vocabulary for the length of utterance used but show more difficulty beginning to pick up and use grammatical markers and syntax rules .
Grammar and syntax
This difficulty in learning to understand and use increasingly complex grammar and syntax continues and most teenagers with Down syndrome exhibit very immature development. She suggests that while children with Down syndrome are able to build up a lexicon of words, they may have a specific difficulty with acquiring the grammar and syntax of language, which they are not able to overcome, and that this may be a ceiling imposed by the genetic condition.
She suggests that dichotic listening studies indicate impairment in the usual left-hemisphere speech areas of the brain. However this may be the result of language delay rather than a cause according to evidence from the study of the hearing impaired and from more recent evidence from more linguistically able people with Down syndrome .Oliver Sacks suggests that it is only when rule-governed language is established that the left hemisphere centres come into play, reminding us of the dynamic nature of all functional brain development.
Improving with age
They studied the development of expressive syntax in two groups, 49 children with Down syndrome aged from 5 to 20 years and 49 ordinary children aged 2 to 6 years. The two groups were matched for non-verbal mental-age and mother's occupational status. They recorded narrative and conversational samples from all the children.
The length of utterances produced increased with age for both the groups and the older children with Down syndrome showed continuing syntactic development up to 20 years of age. The language recorded in the two teenage groups included the use of complex sentences containing more than one clause. However they did find evidence of difficulties with grammatical morphology. The children with Down syndrome omitted more words than the ordinary children and all the words omitted were from closed class grammatical categories.
Chapman concludes that language therapy should continue to late adolescence and should focus on grammatical morpheme use and on complex sentence structures. (The author's research on the effectiveness of language intervention in adolescence to be reported in the next issue of the Journal has focussed on teaching these two aspects of language production).
Recent research which has reported the poor development of phonological working memory in children with Down syndrome may be relevant to understanding the children's difficulty in learning the rules for grammatical morphology and syntax. In order to learn these rules from listening to their use in adult speech, the child will often need to be able to hold sentences of six or more words in working memory while they process them for meaning. They are most unlikely to be able to do this even as teenagers, with average digit spans of only 3 digits at this age
Recent work suggests a link between speech production skills and phonological working memory in ordinary pre-school children and work in this area may make an important contribution to understanding the early cognitive and language learning difficulties of children with Down syndrome.
Intelligibility
Production skills
While a number of studies have reported on the poor intelligibility of the speech of many of the children and adults with Down syndrome, most reviewers conclude that the babble patterns of the babies are normal and that most of the phonological and articulatory patterns are immature.
While the complexity and frequency of babble patterns in ordinary infants predicts their later acquisition of speech and language skills, a recent study reported no such relationship evident in the children with Down syndrome . Better babbling did not lead to better talking. Some specific difficulties seem to affect speech production even though babble patterns are normal.
All motor skills require practice to improve them and one of the issues relevant here may simply be lack of practice. Children with Down syndrome do not usually begin to talk as early as other children and even when they do get started they do not talk as much. I suspect that the difference in the amount of talk that the average five year old with Down syndrome and the average ordinary child produces in a day would be very considerable. I suspect the child with Down syndrome is getting less than half the daily practice.
Effects of poor intelligibility
The tendency of teenagers with Down syndrome to speak in short utterances may be influenced by their experience. the longer and more complex the utterances the teenagers used, the less likely they were to be understood. Their pronunciation was better and thus they were more intelligible when using one and two word utterances This would lead to the habit of speaking in one and two word phrases even if they were capable of generating more complex sentences since the main purpose of communication is to be understood.
It is probable that the poor intelligibility leads to distortions in conversational style even in early childhood, with a tendency for adults to ask closed questions, to prompt and fill in for the child and generally to be too helpful, preventing the children from learning how to do better for themselves. Changes in styles of responding to the children when they are at a two-word level of production could contribute to their difficulty in learning grammar and syntax.
Using language
We have already touched on issues related to the children's skill in actually using language in considering baby interactions and intelligibility issues.
At the pre-verbal stage turn-taking seems less well established than in ordinary children and leads to more vocal clashes when one partner interrupts or speaks over the other. However when children with Down syndrome are talking at the one and two-word level they seem to understand the conversational skills quite well, using a range of utterance types, responding to question forms and attempting to keep conversations going and repair them when misunderstood .
Social sensitivity
The children generally seem keen to communicate and to interact, perhaps showing continuation of their interest in people in the first year of life. The social skills and behaviour of the majority of children with Down syndrome are good for their developmental age, as is their understanding of other people and what they are thinking and feelingParents often comment on the empathy and social sensitivity of teenagers with Down syndrome
However as they get older, the experience of often not being understood when talking may deter the young people in social situations. the teenagers were much less likely to initiate conversations or to attempt to repair them than their conversational partners. Sometimes teenagers do not have the skills, language or confidence to enable them to introduce themselves to strangers or engage in general everyday social conversations.
Many teenagers and young adults experience social isolation, in the sense of not having close friends to chat to and share worries with. This is in part the result of the lack of adequate vocabulary and language skill to make friends and talk about their experiences. This can lead to the creation of fantasy friends and the need to engage in fantasy play to deal with worries even into adult life.
Main conclusions
Hearing loss, visual defects and motor delay may be having a significantly delaying effect on the progress of many of the children from infancy.
The ability of babies with Down syndrome to learn to talk may be adversely effected in the first year of life by their tendency to have less well-developed conversational skills and to be less efficient at setting up language learning situations with adults. This means they experience less opportunities for beginning to understand a vocabulary.
While toddlers with Down syndrome learn word meanings in the just the same way as other children, they are learning new words and expanding their total vocabulary at a slower rate than ordinary children. They are not increasing their vocabulary as fast as they should in relation to their own mental-age progress.
There may be some differences in the way that mothers interact with and talk to their children with Down syndrome, prompted by differences in their babies' skills and speech, which could be adversely affecting their progress.
Intervention including the use of signing reduces the differences in lexical acquisition between children with Down syndrome and ordinary children and brings most children with Down syndrome within the normal range at this stage.
Most children with Down syndrome seem to have considerably more difficulty in learning the grammar and syntax of the language than with learning lexical items.
Most children with Down syndrome show specific productive delays, first in being able to say single words and then in being able to produce sequences of words. Their comprehension for vocabulary, grammar and syntax is is usually greater than their productive skill suggests.
Most children will have difficulty speaking clearly, showing both phonological and articulatory difficulties.
Implications for intervention
Physical care
It is essential for the children to receive first class physical care and to receive physiotherapy to try to keep motor progress near to normal milestones otherwise the baby will not be able to handle objects and explore. This will lead to cognitive delay and language learning delay. Secondly any sensory impairments need to be identified and effectively treated as early as possible. The significance of these impairments, particularly hearing loss, in explaining some of the delays seen in cognitive and language development are still being underestimated in most of the research literature.
Sensitivity
In the first year of life, it is important to draw parents attention to the importance of early conversations and to encourage them to follow the babies' cues, not to overwhelm them with too much physical or verbal stimulation without allowing the baby to join in and respond. Secondly it will be important to explain how an early lexicon is learned and the value of play sessions for encouraging exploration and to overcome the babies' tendency to initiate fewer opportunities for language learning. It may be helpful to explain the importance of talking about what the baby is looking at or doing, so again letting the baby lead the interaction if possible.
Adults need to continue to be sensitive to the child's efforts to communicate throughout childhood in order to encourage them to keep trying at a task which is likely to be difficult. Adults need to be conscious of their style of interacting and be sure to try to appropriately expand two and three word utterances, to encourage conversational sequences and to avoid asking closed questions or being too helpful in a way that may make the immediate exchange successful in terms of getting the message across, but not in terms of encouraging language development beyond telegraphese. If a child can make themselves understood with a mixture of single words and signs there may be no motivation to learn to speak in better sentences.
Using written language systems can have a variety of benefits. Symbols and words can prompt production and be used to greatly increase productive practice. They may help to overcome the auditory memory problems even at the stage of first word learning. Later they can be used to prompt and help the child to practise longer utterances. This may help improve the ability to spontaneously produce intelligible sentences. Print is a very powerful tool for language teaching as the child can be taught to read, understand and practice grammatically and syntactically correct utterance.
Language needs to be taught
The children will benefit from language teaching right from baby hood. In addition to being encouraged to sign, parents can be informed about all aspects of language development so that they can help their child. They are likely to be by far the most effective teachers for their own children. They can be encouraged to continue to consciously expand the child's lexicon and then go on to teach grammar and syntax. Language teaching should continue through teenage years if necessary. Our experience is suggesting that children who have received intervention from birth including signing and reading instruction may not need continued intervention into teenage years.
Treatments:-
There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations. People with Down syndrome can receive proper care while living at home and in the community.
A child with Down syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers. All professionals who interact with children with Down syndrome should provide stimulation and encouragement.
People with Down syndrome are at a greater risk for a number of health problems and conditions than are those who do not have Down syndrome. Many of these associated conditions may require immediate care right after birth, occasional treatment throughout childhood and adolescence, or long-term treatments throughout life. For example, an infant with Down syndrome may need surgery a few days after birth to correct a heart defect; or a person with Down syndrome may have digestive problems that require a lifelong special diet.
Children, teens, and adults with Down syndrome also need the same regular medical care as those without the condition, from well-baby visits and routine vaccinations as infants to reproductive counseling and cardiovascular care later in life. Like other people, they also benefit from regular physical activity and social activities.
• Early Intervention and Educational Therapy
• Treatment Therapies
• Drugs and Supplements
• Assistive Devices
Treatment Therapies
A variety of therapies can be used in early intervention programs and throughout a person's life to promote the greatest possible development, independence, and productivity. Some of these therapies are listed below.
• Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.
• Physical therapy is important, especially early in a child's life, because physical abilities lay the foundation for other skills. The ability to turn over, crawl, and reach helps infants learn about the world around them and how to interact with it.
• A physical therapist also can help a child with Down syndrome compensate for physical challenges, such as low muscle tone, in ways that avoid long-term problems. For example, a physical therapist might help a child establish an efficient walking pattern, rather than one that might lead to foot pain.
• Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively.
• Children with Down syndrome often learn to speak later than their peers. A speech-language therapist can help them develop the early skills necessary for communication, such as imitating sounds. The therapist also may help an infant breastfeed because breastfeeding can strengthen muscles that are used for speech.
• In many cases, children with Down syndrome understand language and want to communicate before they can speak. A speech-language therapist can help a child use alternate means of communication, such as sign language and pictures, until he or she learns to speak.
• Learning to communicate is an ongoing process, so a person with Down syndrome also may benefit from speech and language therapy in school as well as later in life. The therapist may help with conversation skills, pronunciation skills, understanding what is read (called comprehension), and learning and remembering words.
• Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person's needs and abilities.
• This type of therapy teaches self-care skills5 such as eating, getting dressed, writing, and using a computer.
• An occupational therapist might offer special tools that can help improve everyday functioning, such as a pencil that is easier to grip.
• At the high school level, an occupational therapist could help teenagers identify jobs, careers, or skills that match their interests and strengths.
• Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors. Children with Down syndrome may become frustrated because of difficulty communicating, may develop compulsive behaviors, and may have Attention Deficit Hyperactivity Disorder and other mental health issues. These types of therapists try to understand why a child is acting out, create ways and strategies for avoiding or preventing these situations from occurring, and teach better or more positive ways to respond to situations.
• A psychologist, counselor, or other mental health professional can help a child deal with emotions and build coping and interpersonal skills.
• The changes in hormone levels that adolescents experience during puberty can cause them to become more aggressive. Behavioral therapists can help teenagers recognize their intense emotions and teach them healthy ways to reach a feeling of calmness.
• Parents may also benefit from guidance on how to help a child with Down syndrome manage day-to-day challenges and reach his or her full potential. (The author has his own study and his own views)
