Palmer hyperhidrosis is profuse perspiration (excessive sweating) of the palms.It is one form of focal hyperhidrosis, meaning profuse perspiration affecting one area of the body. Sweaty palms may be accompanied by profuse perspiration of the feet, forehead, ckeeks, armpits (axillae) or be part of general hyperhidrosis (profuse perspiration throughout the body). Hyperhidrosis refers to profuse perspiration beyond the body’s thermoregulatory (temperature control) needs.
Palmer hyperhidrosis is a common condition in which the eccrine (sweat) glands of the palms and soles secrete inappropriately large quantities of sweat. The condition may become socially and professionally debilitating. The condition usually is idiopathic and it begins in childhood and frequently runs in families.
The intensity of symptoms may vary among sufferers and trigger factors should be carefully noted. Common symptoms are :
*Perspiration of the hands can vary from mild clamminess to severe perspiration resulting in dripping sweat.
*Temperature differences of palmar surface compared to surface temperature of other parts of the body may be noted.
*Sloughing (peeling) of skin may be noted in profuse perspiration.
*Episodes of profuse perspiration may be followed by periods of extreme dryness on the palmar surface.
*Hyperhidrosis often starts in puberty, and family history is often reported.
The secondary effects of palmar hyperhidrosis can result in both psychosocial effects as well as difficulty in undertaking certain tasks or handling equipment. Sufferers of palmar hyperhidrosis are often reluctant to partake in socially expected actions like shaking hands or touching loved ones. The embarrassment of dealing with this condition can affect the level of interactivity in both social and work situations. Difficulties with holding objects, gripping equipment or soiling electronic devices like keyboards may affect functioning at work. Daily activities such as writing with a pen or counting cash notes is often difficult.
Causes: Hyperhidrosis is either primary focal or secondary generalized.
1. Primary Palmar Hyperhidrosis
Focal palmar hyperhidrosis is usually localized and is referred to as primary (essential, idiopathic), meaning no obvious cause, except strong family predisposition can be found (4,5), and affected persons are otherwise healthy . Sweating on other locations as feet, armpits and face may appear. Primary palmar hyperhidrosis is caused by overactivity of the sympathetic nervous system, primarily triggered by emotional causes including anxiety, nervousness, anger and fear .
There may be a significant reduction in perspiration during sleep or sedation.
2. Secondary Palmar Hyperhidrosis
In secondary palmar hyperhidrosis hands sweat due to an obvious underlying disorder like:
*Secondary palmar hyperhidrosis as part of generalized hyperhidrosis due to several hormonal causes (diabetes, hyperthyroidism, thyrotoxicosis, menstruation, menopause), metabolic disorders, malignant disease (lymphoma, pheochromocitoma), autoimmune disorders (rheumatoid arthritis, systemic lupus erythrematosus), drugs like hypertensive drugs and certain classes of antidepressants (list of medications causing hyperhidrosis), chronic use of alcohol, Parkinson’s disease, neurological disorders (toxic neuropathy), homocystinuria, plasma cell disorders. Detailed list of conditions causing generalyzed hyperhidrosis.
How Sweat Glands Work:
In eccrine glands, the major substance enabling impulse conduction is acetylcholine, and in apocrine glands, they are catecholamines.
Body temperature is controlled by the thermoregulatory center in the hypothalamus and this is influenced not only by by core body temperature but also by hormones, pyrogens, exercise and emotions.
Diagnosis: The first step in diagnosing the Palmar hyperhidrosis is to differentiate between generalized and focal hyperhidrosis.
A thorough case taking and medical history is usually sufficient to diagnose palmar hyperhidrosis and any trigger factors (scheduled drugs, narcotics, chronic alcoholism).
Diagnostic criteria for primary focal (including palmar) hyperhidrosis are:
*Bilateral and relatively symmetric sweating
*Frequency of at least 1 episode per week
*Impairment of daily activities
*Age at onset before 25 years
*Cessation of sweating during sleep
Tests may include:
*Hematological studies may be necessary to identify thyroid disorders (thyroid function test for T3 and T4 as well as thyroid antibodies) and diabetes (fasting blood glucose or a glucose tolerance test).
*X-rays and MRI scans will assist for diagnosing tuberculosis, pneumonia and tumors.
*Superficial electroconductivity can be monitored as any hyperhidrosis reduces skin electrical resistance.
*Thermoregulatory sweat test uses moisture-sensitive indicator powder to monitor moisture. Changes in the color of the powder at room temperature will highlight areas of increased perspiration.
Treatment: Conservative management should be coupled with prescribed treatment by the Doctor to reduce the symptoms.
*Counseling may be effective in managing primary palmar hyperhidrosis in cases of mental-emotional etiology.
*Trigger foods and aggravating factors should be noted if possible and relevant dietary changes should be implemented.
*Effective prevention of secondary palmar hyperhidrosis is difficult with conservative management and drug therapy or surgery may be required.
*Excessive physical activity and extremes of heat may be two trigger factors that should be avoided as far as possible.
*In cases of diabetes, a glucose controlled diet with low glycemic index may improve glucose tolerance which could assist with palmar hyperhidrosis.
*Abstinence from alcohol and narcotics is advisable if it is the causative factor for sweaty palms.
*Stimulants such as caffeine and nicotine may aggravate palmar hypehidrosis and should relevant dietary and lifestyle changes should be implemented.
*Anti-perspirant compounds like aluminum chloride can be applied on the palms to reduce moisture or palmar surfaces. Recent research on an aluminum sesquichlorohydrate foam has shown that it is effective in reducing sweat in palmar hyperhidrosis
Treatment remains a challenge: options include topical and systemic agents, iontophoresis, and botulinum toxin type A injections, with surgical sympathectomy as a last resort. None of the treatments is without limitations or associated complications. Topical aluminum chloride hexahydrate therapy and iontophoresis are simple, safe, and inexpensive therapies; however, continuous application is required because results are often short-lived, and they may be insufficient. Systemic agents such as anticholinergic drugs are tolerated poorly at the dosages required for efficacy and usually are not an option because of their associated toxicity. While botulinum toxin can be used in treatment-resistant cases, numerous painful injections are required, and effects are limited to a few months.
Standard therapeutic protocol may differ among cases of palmar hyperhidrosis depending on medical history and underlying pathology.
*Anticholinergic drugs have a direct effect on the sympathetic nervous system although there are numerous side effects.
*Treatment should be directed at contributing factors.
*Ionophoresis involves the use of electrotherapeutic measures to reduce the activity of sweat glands.
*Botulinum injections at the affected area may be useful for its anticholinergic effects.
*Surgery should be considered if drug therapy proves ineffective. Endoscopic transthoracic sympathectomy involves resection of the sympathetic nerve supply to the affected area. This prevents nerve stimulation of the sweat gland of the palms. However surgery has a host of complications including exacerbating the problem or increasing generalized hyperhidrosis.
Surgical sympathectomy should be reserved for the most severe cases and should be performed only after all other treatments have failed. Although the safety and reliability of treatments for palmoplantar hyperhidrosis have improved dramatically, side effects and compensatory sweating are still common, potentially severe problems.
Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.
Common Names :Wild Hyacinth, common bluebell or simply bluebell
Habitat : Bluebell is Abundant in Britain, Western Europe to Spain, eastward to Central France, along the Mediterranean to Italy.
Wild Hyacinth is a perennial plant that grows from a bulb. It produces 3–6 linear leaves, all growing from the base of the plant, and each 7–16 millimetres (0.28–0.63 in) wide. An inflorescence of 5–12 (exceptionally 3–32) flowers is borne on a stem up to 500 mm (20 in) tall, which droops towards the tip; the flowers are arranged in a 1-sided nodding raceme. Each flower is 14–20 mm (0.55–0.79 in) long, with two bracts at the base, and the six tepals are strongly recurved at their tips. The tepals are violet–blue. The three stamens in the outer whorl are fused to the perianth for more than 75% of their length, and bear cream-coloured pollen. The flowers are strongly and sweetly scented. The seeds are black, and germinate on the soil surface
CLICK & SEE THE PICTURES
The Wild Hyacinth is in flower from early in April till the end of May, and being a perennial and spreading rapidly, is found year after year in the same spot, forming a mass of rich colour in the woods where it grows. The long leaves remain above ground until late in the autumn.
The bulbs produce contractile roots; when these roots contract, they draw the bulbs down into deeper layers of the soil where there is greater moisture, reaching depths of 10–12 cm (3.9–4.7 in). This may explain the absence of H. non-scripta from thin soils over chalk in South East England, since the bulbs are unable to penetrate into sufficiently deep soils.
MedicinalUses: Part Used: Root bulb, dried and powdered.
Constituents: The bulbs contain inulin, but are characterized by the absence of starch (which in many other monoeotyledons is found in company with inulin). Even if fed on cane-sugar, Bluebell bulbs will not form starch. They also contain a very large quantity of mucilage.
Though little used in modern medicine, the bulb has diuretic and styptic properties.
Dried and powdered it has been used as a styptic for leucorrhoea; ‘There is hardly a more powerful remedy,’ wrote Sir John Hill (1716-75), warning at the same time that the dose should not exceed 3 grains. He also informs us that a decoction of the bulb operates by urine.
Tennyson speaks of Bluebell juice being used to cure snake-bite.
The flowers have a slight, starch-like scent, but no medicinal uses have been ascribed to them.
The bulbs are poisonous in the fresh state. The viscid juice so abundantly contained in them and existing in every part of the plant has been used as a substitute for starch, and in the days when stiff ruffs were worn was much in request. From its gummy character, it was also employed as bookbinders’ gum.
Wild Hyacinth or Bluebells are widely planted as garden plants, either among trees or in herbaceous borders. They flower at the same time as hyacinths, Narcissus and some tulips. Their ability to reproduce vegetatively using runners, however, means that they can spread rapidly, and may need to be controlled as weeds.
The information presented herein is intended for educational purposes only. Individual results may vary, and before using any supplements, it is always advisable to consult with your own health care provider.
Use this stretch to release your back and hips if you’ve been seated for a long period of time or after brisk walking, hiking or biking. You’ll stand taller and feel more energized once your spine and hips have been loosened up.
Sit on the floor or a padded mat. Bend your knees out to the side with the soles of your feet pressed together in front of you. Place your hands behind you on the floor, close to your hips, with fingers turned away from your body. Lift your spine tall without overarching your lower back. Allow your thighs and knees to drop to the floor.
Reach forward with your hands, grasping your feet. On an exhale, round your back, bringing your face close to your feet. Hold this position for 30 to 60 seconds while you focus on breathing deeply and fully. Think of expanding your entire back when you inhale, then letting go of all tension when you exhale.
What’s more is that it doesn’t matter if you’re an adult or a child.
In one of the first studies to observe cross-sectional relationships between duration of sleep and obesity in both children and adults, researchers have discovered a consistent increased risk of obesity among short sleepers.
The study, led by Francesco P Cappuccio, MD, of Warwick Medical School in the United Kingdom, involved an orderly search of publications on the relationship between short sleep duration and obesity risk.
Of the 696 studies, the researchers short-listed 12 studies on children and 17 studies on adults based on the inclusion criteria. This involved report of duration of sleep as exposure, body mass index (BMI) as continuous outcome and prevalence of obesity as categorical outcome, number of participants, age and gender.
In children, the study included 13 population samples from the 12 studies, representing 30,002 participants aged between two to 20 years, and found that 7 of 11 studies showed a significant link between short sleep duration and obesity.
In case of adults, 22 population samples from the 17 studies were included that meant a total of 604,509 participants aged between 15-102 years. It was discovered that 17 population samples showed a significant association between short duration of sleep and obesity.
In fact, all studies in adults showed a consistent and significant negative association between hours of sleep and BMI, quite unlike studies in children.
Cappuccio said that this study showed a consistent pattern of increased odds of being a short sleeper if you are obese, both in childhood and adulthood.
“By appraising the world literature, we were able to show some heterogeneity amongst studies in the world. However, there is a striking consistent overall association, in that both obese children and adults had a significantly increased risk of being short sleepers compared to normal weight individuals. The size of the association was comparable (1.89-fold increase in children and 1.55-fold increase in adults),” said Dr Cappuccio.
He added: “This study is important as it confirms that this association is strong and might be of public health relevance. However, it also raises the unanswered question yet of whether this is a cause-effect association. Only prospective longitudinal studies will be able to address the outstanding question.”
Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, and often leads to mental retardation. It affects 1 in every 800 babies born.
The symptoms of Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead very healthy and independent lives.
Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate learning disabilities. A small number have severe to profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by, in particular, the age of the mother. Other factors may also play a role.
Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They may include a single transverse palmar crease (a single instead of a double crease across one or both palms, also called the Simian crease), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures, shorter limbs, poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.
Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will improve quality of life
Though Down syndrome can’t be prevented, it can be detected before a child is born. The health problems that can go along with DS can be treated, and there are many resources within communities to help kids and their families who are living with the condition.
Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, however, a child gets an extra chromosome – for a total of 47 chromosomes instead of 46. It’s this extra genetic material that causes the physical and cognitive delays associated with DS.
Although no one knows for sure why DS occurs and there’s no way to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition. At age 30, for example, a woman has less than a 1 in 1,000 chance of conceiving a child with DS. Those odds increase to 1 in 400 by age 35. By 42, it jumps to about 1 in 60.
Individuals with Down syndrome may have some or all of the following physical characteristics: oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), a short neck, white spots on the iris known as Brushfield spots, excessive joint laxity including atlanto-axial instability, congenital heart defects, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, and a higher number of ulnar loop dermatoglyphs. Most individuals with Down syndrome have mental retardation in the mild (IQ 50â€“70) to moderate (IQ 35â€“50) range, with individuals having Mosaic Down syndrome (explained below) typically 10â€“30 points higher. In addition, individuals with Down syndrome can have serious abnormalities affecting any body system. They also may have a broad head and a very round face.
Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, a single crease across the center of the palms, and an enlarged tongue. A doctor can usually tell if a newborn has the condition through a physical exam.
Low muscle tone and loose joints are also characteristic of children with DS, and babies in particular may seem especially “floppy.” Though this can and often does improve over time, most children with DS typically reach developmental milestones – like sitting up, crawling, and walking – later than other kids. At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues. In toddlers and older children, there may be delays in speech and self-care skills like feeding, dressing, and toilet teaching.
Down syndrome affects kids’ cognitive abilities in different ways, but most have mild to moderate mental retardation. Kids with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace – which is why it’s important not to compare a child with DS with typically developing siblings or even other children with the condition. Kids with DS have a wide range of abilities, and there’s no way to tell at birth what they will be capable of as they grow up.
Medical Problems Associated with Down Syndrome:-
While some kids with DS have no other health problems, others may experience a host of medical issues that require extra care. For example, half of all children born with DS also have congenital heart defects and are prone to developing pulmonary hypertension (high blood pressure in the lungs). A pediatric cardiologist can monitor these types of problems, many of which can be treated with medication or surgery.
Approximately half of all kids with DS also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include amblyopia (lazy eye), near- or farsightedness, and an increased risk of cataracts. Regular evaluations by an audiologist and an ophthalmologist are necessary to detect and correct any problems before they affect a child’s language and learning skills.
Other medical conditions that may occur more frequently in children with DS include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Fortunately, many of these conditions are treatable.
Prenatal Screening and Diagnosis:-
There are two types of prenatal tests available to detect Down syndrome in a fetus: screening tests and diagnostic tests. Screening tests estimate the risk that a fetus has DS; diagnostic tests can tell whether the fetus actually has the condition.
Screening tests are noninvasive and generally painless. But because they can’t give a definitive answer as to whether a baby has DS, mostly they’re used to help parents decide whether to have more diagnostic tests.
Diagnostic tests are about 99% accurate in detecting Down syndrome and other chromosomal abnormalities. However, because they are performed inside the uterus, they are associated with a risk of miscarriage and other complications. For this reason, they are generally recommended only for women age 35 or older, those with a family history of genetic defects, or those who’ve had an abnormal result on a screening test. If you’re unsure about which test, if any, is right for you, your doctor or a genetic counselor can help you sort through the pros and cons of each.
Screening tests include:
Nuchal translucency testing. This test, performed between 11 and 14 weeks of pregnancy, uses ultrasound to measure the clear space in the folds of tissue behind a developing baby’s neck. (Babies with DS and other chromosomal abnormalities tend to accumulate fluid there, making the space appear larger.) This measurement, taken together with the mother’s age and the baby’s gestational age, can be used to calculate the odds that the baby has DS. Nuchal translucency testing correctly detects DS about 80% of the time; when performed with a maternal blood test, it may offer greater accuracy.
The triple screen (also called the multiple marker test) and the alpha fetoprotein plus. These tests measure the quantities of various substances in the mother’s blood, and together with the woman’s age, estimate the likelihood that her baby has Down syndrome. They are typically offered between 15 and 20 weeks of pregnancy.
A detailed ultrasound. This is often performed in conjunction with the blood tests, and it checks the fetus for some of the physical traits associated with Down syndrome. However, these screening tests are only about 60% accurate and often lead to false-positive or false-negative readings. Diagnostic tests include: Amniocentesis. This test, performed between 16 and 20 weeks of pregnancy, involves the removal of a small amount of amniotic fluid through a needle inserted in the abdomen. The cells can then be analyzed for the presence of chromosomal abnormalities. Amniocentesis carries a small risk of complications, such as preterm labor and miscarriage.
Chorionic villus sampling (CVS). CVS involves taking a tiny sample of the placenta, also through a needle inserted in the abdomen. The advantage of this test is that it can be performed earlier than amniocentesis, between 8 and 12 weeks. The disadvantage is that it carries a slightly greater risk of miscarriage and other complications.
Percutaneous umbilical blood sampling (PUBS). Usually performed after 20 weeks, this test uses a needle to retrieve a small sample of blood from the umbilical cord. It carries risks similar to those associated with amniocentesis.
After a baby is born, a diagnosis of Down syndrome can usually be made just by looking at the baby. If the doctor suspects DS, a karyotype – a blood or tissue sample stained to show chromosomes grouped by size, number, and shape – can be performed to verify the diagnosis.
The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process. The health aspects of Down syndrome encompass anticipating and preventing effects of the condition, recognizing complications of the disorder, managing individual symptoms, and assisting the individual and his/her family in coping and thriving with any related disability or illnesses.
Down syndrome can result from several different genetic mechanisms. This results in a wide variability in individual symptoms due to complex gene and environment interactions. Prior to birth, it is not possible to predict the symptoms that an individual with Down syndrome will develop. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as epilepsy.
The most common manifestations of Down syndrome are the characteristic facial features, cognitive impairment, congenital heart disease (typically a ventricular septal defect), hearing deficits (maybe due to sensory-neural factors, or chronic serous otitis media, also known as Glue-ear), short stature, thyroid disorders, and Alzheimer’s disease. Other less common serious illnesses include leukemia, immune deficiencies, and epilepsy.
However, health benefits of Down syndrome include greatly reduced incidence of many common malignancies except leukemia and testicular cancer â€” although it is, as yet, unclear whether the reduced incidence of various fatal cancers among people with Down syndrome is as a direct result of tumor-suppressor genes on chromosome 21 (such as Ets2), because of reduced exposure to environmental factors that contribute to cancer risk, or some other as-yet unspecified factor. In addition to a reduced risk of most kinds of cancer, people with Down syndrome also have a much lower risk of hardening of the arteries and diabetic retinopathy.
Life expectancy :-
These factors can contribute to a shorter life expectancy for people with Down syndrome. One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups. However, in recent decades, the life expectancy among persons with Down Syndrome has increased significantly up from 25 years in 1980. The causes of death have also changed, with chronic neurodegenerative diseases becoming more common as the population ages.
Fertility amongst both males and females is reduced, with only three recorded instances of males with Down syndrome fathering children.
Main article: Research of Down syndrome-related genes
Down syndrome is â€œa developmental abnormality characterized by trisomy of human chromosome 21″ (Nelson 619). The extra copy of chromosome-21 leads to an over expression of certain genes located on chromosome-21.
Research by Arron et al shows that some of the phenotypes (displayed genetic characteristics), associated with Down Syndrome can be related to the dysregulation of gene-regulating proteins (596). The gene-regulating proteins bind to DNA and initiate certain segments of DNA to be replicated for the production of a certain protein (Arron et al. 596). The gene-regulator in interest is called NFATc. Its activities are controlled by two proteins, DSCR1 and DYRK1A; these genes are located on chromosome-21 (Epstein 582). In people with Down Syndrome, these proteins have 1.5 times greater concentration than normal (Arron et al. 597). The elevated levels of DSCR1 and DYRK1A mean that most of the NFATc is located in the cytoplasm rather than in the nucleus promoting DNA replication which will produce vital proteins (Epstein 583).
This dysregulation was discovered by testing in transgenic mice. The mice had segments of their chromosomes duplicated to simulate a human chromosome-21 trisomy (Arron et al. 597). A common characteristic of Down Syndrome is poor muscle tone, so a test involving the grip strength of the mice showed that the genetically modified mice had a significantly weaker grip (Arron et al. 596). The mice squeezed a probe with a paw; the modified mice displayed a .2 Newton (measurement of force) weaker grip (Arron et al. 596). Down syndrome is also characterized by increased socialization. Both modified and unmodified mice were observed for social interaction. The modified mice showed as many as 25% more interactions per time period as the unmodified mice (Arron et al. 596).
The genes that may be responsible for the phenotypes associated may be located proximal to 21q22.3. Testing by Olson et al, in transgenic mice show the duplicated genes presumed to cause the phenotypes are not enough to cause the exact features. While the mice had sections of multiple genes duplicated to approximate a human chromosome-21 triplication, they only showed slight craniofacial abnormalities (688-690). The transgenic mice were compared to mice that had no gene duplication by measuring distances on various points on their skeletal structure and comparing them to the normal mice (Olson et al. 687). The exact characteristics of Down Syndrome were not observed, so more genes involved for Down Syndrome phenotypes have to be located elsewhere.
Reeves et al, using 250 clones of chromosome-21 and specific gene markers, were able to map the gene in mutated bacteria. The testing had 99.7% coverage of the gene with 99.9995% accuracy due to multiple redundancies in the mapping techniques. In the study 225 genes were identified (311-313).
The search for major genes that may be involved in Down syndrome symptoms is normally in the region 21q21â€“21q22.3. However, studies by Reeves et al. show that 41% of the genes on chromosome-21 have no functional purpose, and only 54% of functional genes have a known protein sequence. Functionality of genes was determined by a computer using exon prediction analysis (312). Exon sequence was obtained by the same procedures of the chromosome-21 mapping.
Research has led to an understanding that two genes located on chromosome-21, that code for proteins that control gene regulators, DSCR1 and DYRK1A can be responsible for some of the phenotypes associated with Down Syndrome. DSCR1 and DYRK1A cannot be blamed outright for the symptoms; there are a lot of genes that have no known purpose. Much more research would be needed to produce any appropriate or ethically acceptable treatment options.
Recent use of transgenic mice to study specific genes in the Down syndrome critical region has yielded some results. APP is an Amyloid beta A4 precursor protein. It is suspected to have a major role in cognitive difficulties. Another gene, ETS2 is Avian Erythroblastosis Virus E26 Oncogene Homolog 2. Researchers have “demonstrated that over-expression of ETS2 results in apoptosis. Transgenic mice over-expressing ETS2 developed a smaller thymus and lymphocyte abnormalities, similar to features observed in Down syndrome.
If you’re the parent of a child diagnosed with Down syndrome, you may at first feel overwhelmed by feelings of loss, guilt, and fear. Talking with other parents of kids with DS may help you deal with the initial shock and grief and find ways to look toward the future. Many parents find that learning as much as they can about DS helps alleviate some of their fears.
Experts recommend enrolling kids with Down syndrome in early intervention services as soon as possible after your child is born. Physical, occupational, and speech therapists and early-childhood educators can work with your child to develop motor skills and language, and show you how to encourage these skills at home. Many states provide free early-intervention services to kids with disabilities from birth to age 3, so check with your child’s doctor or a social worker to determine what resources are available in your area.
Once your child is 3 years old, he or she is guaranteed educational services under the Individuals with Disabilities Education Act (IDEA). Under IDEA, local school districts must provide “a free appropriate education in the least restrictive environment” and an individualized education plan (IEP) for each child.
Where to send your child to school can be a difficult decision. Some kids with Down syndrome have needs that are best met in a specialized program, while many others do well attending neighborhood schools alongside peers who don’t have DS. Studies have shown that this type of situation, known as inclusion, is beneficial for both the child with DS as well as the other children. Your school district’s child study team can work with you to determine what’s best for your child, but remember, any decisions can and should involve your input, as you are your child’s best advocate.
Today, many children with Down syndrome grow up going to school and enjoying many of the same activities as other kids their age. A few go on to college. Many transition to semi-independent living. Still others continue to live at home but are able to hold jobs, thus finding their own success in the community. CLICK TO READ MODERN RESEARCH ON DOWN SYNDROME