Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.
In 1954, Dr. Andreas Rett, a pediatrician in Vienna, Austria, first noticed two girls as they sat in his waiting room making the same repetitive hand-washing motions. Brett syndrome is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.
This neurological disorder is where there is a mutation in a single gene, the MECP2 gene.
The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The function of DNA is the blueprint of biological guidelines that a living organism must follow to exist and remain functional. Medium of long-term, stable storage and transmission of genetic information.The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells.
In the brain, the MeCP2 protein is important for the function of several types of cells, including nerve cells (neurons). The protein likely plays a role in maintaining connections (synapses) between neurons, where cell-to-cell communication occurs.
Many of the genes that are known to be regulated by the MeCP2 protein play a role in normal brain function, particularly the maintenance of synapses BUT the MeCP has a permanent alteration in it so if effects the DNA and there won’t be normal function.
Affecting only children because this happens during fetal development when are DNA/RNA and genes are made up. This won’t happen in adulthood, your RNA, DNA and genes won’t change at that age.
It mostly affects girls rather than boys because the affected gene is located within the X chromosome. Chromosomes contain the set of instructions to create an organism. Men have one X chromosome and one Y chromosome, the latter being responsible for the characteristics that make men male, including the male sexual organs and the ability to produce sperm. In contrast, women have two copies of the X chromosome= XX. But, because the X chromosome carries a bigger instruction manual than the Y chromosome, biology’s solution is to largely inactivate one X chromosome in females, giving one functional copy of the X in both men and women.
Rett Syndrome is genetically based and is a very rare condition, but there is no known cure. This is a life-long condition. You can’t repair mutated genes or someone’s DNA/RNA.
Symptoms can be managed, and early detection is the key to making it easier on both the child affected and their families, but the patient will need constant care for the rest of their lives.
Often akin to the symptoms of severe autism, it is important to differentiate between the two diseases to get a correct diagnosis.
“Helen’s ability to empathize with the individual citizen in need as well as her ability to work with world leaders to shape global policy on vision loss made her a supremely effective ambassador for disabled persons worldwide. Her active participation in this area began as early as 1915, when the Permanent Blind War Relief Fund, later called the American Braille Press, was founded. She was a member of its first board of directors.”
American Foundation for the Blind – AFB
Orientation and Mobility
In addition, the child who is deaf-blind will need help learning to move about in the world. Without vision, or with reduced vision, he or she will not only have difficulty navigating, but may also lack the motivation to move outward in the first place. Helping a young child who is deaf-blind learn to move may begin with thoughtful attention to the physical space around him or her (crib or other space) so that whatever movements the child instinctively makes are rewarded with interesting stimulation that motivates further movement. Orientation and mobility specialists can help parents and teachers to construct safe and motivating spaces for the young child who is deaf-blind. In many instances children who are deaf-blind may also have additional physical and health problems that limit their ability to move about. Parents and teachers may need to include physical and occupational therapists, vision teachers, health professionals, and orientation and mobility specialists on the team to plan accessible and motivating spaces for these children. Older children or adults who have lost vision can also use help from trained specialists in order to achieve as much confidence and independence as possible in moving about in their world.
Education for a child or youth with deaf-blindness needs to be highly individualized; the limited channels available for learning necessitate organizing a program for each child that will address the child’s unique ways of learning and his or her own interests. Assessment is crucial at every step of the way. Sensory deficits can easily mislead even experienced educators into underestimating (or occasionally overestimating) intelligence and constructing inappropriate programs.
Helen Keller said, “Blindness separates a person from things, but deafness separates him from people.” This potential isolation is one important reason why it is necessary to engage the services of persons familiar with the combination of both blindness and deafness when planning an educational program for a child who is deaf-blind. Doing so will help a child or youth with these disabilities receive an education which maximizes her or his potential for learning and for meaningful contact with her or his environment. The earlier these services can be obtained, the better for the child.
When a person who is deaf-blind nears the end of his or her school-based education, transition and rehabilitation help will be required to assist in planning so that as an adult the individual can find suitable work and living situations. Because of the diversity of needs, such services for a person who is deaf-blind can rarely be provided by a single person or agency; careful and respectful teamwork is required among specialists and agencies concerned with such things as housing, vocational and rehabilitation needs, deafness, blindness, orientation and mobility, medical needs, and mental health.
The adult who is deaf-blind must be central to the transition planning. The individual’s own goals, directions, interests, and abilities must guide the planning at every step of the way. Skilled interpreters, family members and friends who know the person well can help the adult who is deaf-blind have the most important voice in planning his or her own future.
Inclusion in Family
Clearly, the challenges for parents, teachers and caregivers of children who are deaf-blind are many. Not least among them is the challenge of including the child in the flow of family and community life. Since such a child does not necessarily respond to care in the ways we might expect, parents will be particularly challenged in their efforts to include her or him. The mother or father of an infant who can see is usually rewarded with smiles and lively eye contact from the child. The parent of a child who is deaf-blind must look for more subtle rewards: small hand or body movements, for instance, may be the child’s way of expressing pleasure or connection. Parents may also need to change their perceptions regarding typical developmental milestones. They can learn, as many have, to rejoice as fully in the ability of their child who is deaf-blind to sign a new word, or to feed herself, or to return a greeting as they do over another child’s college scholarship or success in basketball or election to class office.
Parents, then, may need to shift expectations and perceptions in significant ways. They also need to do the natural grieving that accompanies the birth of a child who is disabled. Teachers and caregivers must also make these perceptual shifts. Parents’ groups and resources for teachers can provide much-needed support for those who live and work with children and adults who are deaf-blind. Such supports will help foster the mutually rewarding inclusion of children who are deaf-blind into their families and communities. (See section below for resources.)
Though deaf-blindness presents many unique challenges to both those who have visual and hearing impairments and to their caregivers and friends, these challenges are by no means insurmountable. Many persons who are deaf-blind have achieved a quality of life that is excellent. The persons who are deaf-blind who have high quality lives have several things in common.
First, they have each, in their own way, come to accept themselves as individuals who have unique experiences of the world, and valuable gifts to share. This fundamental acceptance of self can occur regardless of the severity of the particular sensory losses or other challenges that a person has. Second, they have had educational experiences which have helped them maximize their abilities to communicate and to function productively. Finally, these happy, involved persons who are deaf-blind live in families, communities, or social groups that have an attitude of welcoming acceptance. They have friends, relatives, and co-workers who value their presence as individuals with significant contributions to make to the world around them. For these persons with limited sight and hearing, and for those near them, deaf-blindness fosters opportunities for learning and mutual enrichment.
“At the age of 19 months, Helen became deaf and blind as a result of an unknown illness, perhaps rubella or scarlet fever. With the help of Anne Sullivan (her teacher) she made Helen learn to read & talk. She made the signals have meaning in Helen’s mind. Helen made it to a BSN, just as much her’s as Anne Sullivan’s. Helen’s ideals found their purest, most lasting expression in her work for the American Foundation for the Blind (AFB). Helen joined AFB in 1924 and worked for the organization for over 40 years. The foundation provided her with a global platform to advocate for the needs of people with vision loss and she wasted no opportunity. She met with world leaders such as Winston Churchill, Jawaharlal Nehru, and Golda Meir. In 1948, she was sent to Japan as America’s first Goodwill Ambassador by General Douglas MacArthur. Her visit was a huge success; up to two million Japanese came out to see her and her appearance drew considerable attention to the plight of Japan’s blind and disabled population. Wherever she traveled, she brought encouragement to millions of blind people, and many of the efforts to improve conditions for those with vision loss outside the United States can be traced directly to her visits.”
American Foundation for the Blind – AFB
Today, many children who are born deaf or blind have access to amazing support to help them navigate the world. Similarly, those who suffer loss of hearing or sight later in life have numerous resources to help them overcome communication barriers introduced by their new reality. It’s unlikely that those in this situation would be cut off completely from communicating with others. In the 1880s, Helen Keller wasn’t so fortunate. Despite all of the barriers that she faced because of her deafness, her blindness and her gender, she was able to do impressive work with Anne Sullivan to move care of the deaf-blind population forward
Those unfortunately born with no sight and hearing face many challenges.
It may seem that deaf-blindness refers to a total inability to see or hear. However, in reality deaf-blindness is a condition in which the combination of hearing and visual losses in children cause “such severe communication and other developmental and educational needs that they cannot be accommodated in special education programs solely for children with deafness or children with blindness” ( 34 CFR 300.8 ( c ) ( 2 ), 2006) or multiple disabilities. Children who are called deaf-blind are singled out educationally because impairments of sight and hearing require thoughtful and unique educational approaches in order to ensure that children with this disability have the opportunity to reach their full potential.
A person who is deaf-blind has a unique experience of the world. For people who can see and hear, the world extends outward as far as his or her eyes and ears can reach. For the young child who is deaf-blind, the world is initially much narrower. If the child is profoundly deaf and totally blind, his or her experience of the world extends only as far as the fingertips can reach. Such children are effectively alone if no one is touching them. Their concepts of the world depend upon what or whom they have had the opportunity to physically contact.
If a child who is deaf-blind has some usable vision and/or hearing, as many do, her or his world will be enlarged. Many children called deaf-blind have enough vision to be able to move about in their environments, recognize familiar people, see sign language at close distances, and perhaps read large print. Others have sufficient hearing to recognize familiar sounds, understand some speech, or develop speech themselves. The range of sensory impairments included in the term “deaf-blindness” is great.
As far as it has been possible to count them, there are over 10,000 children (ages birth to 22 years) in the United States who have been classified as deaf-blind (NCDB, 2008). It has been estimated that the adult deaf-blind population numbers 35-40,000 (Watson, 1993). The causes of deaf-blindness are many. Below is a list of many of the possible etiologies of deaf-blindness.
Major Causes of Deaf-Blindness
Syndromes-Like Down Syndrome, Trisomy13 Syndrome & Usher
Multiple Congenital Anomalies- Like CHARGE Association, Fetal alcohol syndrome, Hydrocephaly, Maternal drug abuse and Microcephaly.
Prematurity=Congenital Prenatal Dysfunction. Like AIDS, Herpes, Rubella, Syphilis and Toxoplasmosis.
Post-natal Causes- Like Asphyxia, Encephalitis, Head injury/trauma, Meningitis and Stroke.
The one major CHALLENGE these patients face:
The disability of deaf-blindness presents unique challenges to families, teachers, and caregivers, who must make sure that the person who is deaf-blind has access to the world beyond the limited reach of his or her eyes, ears, and fingertips. The people in the environment of children or adults who are deaf-blind must seek to include them—moment-by-moment—in the flow of life and in the physical environments that surround them. If they do not, the child will be isolated and will not have the opportunity to grow and to learn. If they do, the child will be afforded the opportunity to develop to his or her fullest potential.
The most important challenge for parents, caregivers, and teachers is to communicate meaningfully with the child who is deaf-blind. Continual good communication will help foster his or her healthy development. Communication involves much more than mere language. Good communication can best be thought of as conversation. Conversations employ body language and gestures, as well as both signed and spoken words. A conversation with a child who is deaf-blind can begin with a partner who simply notices what the child is paying attention to at the moment and finds a way to let the child know that his or her interest is shared.
This shared interest, once established, can become a topic around which a conversation can be built. Mutual conversational topics are typically established between a parent and a sighted or hearing child by making eye contact and by gestures such as pointing or nodding, or by exchanges of sounds and facial expressions. Lacking significant amounts of sight and hearing, children who are deaf-blind will often need touch in order for them to be sure that their partner shares their focus of attention. The parent or teacher may, for example, touch an interesting object along with the child in a nondirective way. Or, the mother may imitate a child’s movements, allowing the child tactual access to that imitation, if necessary. (This is the tactual equivalent of the actions of a mother who instinctively imitates her child’s babbling sounds.) Establishing a mutual interest like this will open up the possibility for conversational interaction.
Teachers, parents, siblings, and peers can continue conversations with children who are deaf-blind by learning to pause after each turn in the interaction to allow time for response. These children frequently have very slow response times. Respecting the child’s own timing is crucial to establishing successful interactions. Pausing long enough to allow the child to take another turn in the interaction, then responding to that turn, pausing again, and so on—this back-and-forth exchange becomes a conversation. Such conversations, repeated consistently, build relationships and become the eventual basis for language learning.
As the child who is deaf-blind becomes comfortable interacting nonverbally with others, she or he becomes ready to receive some form of symbolic communication as part of those interactions. Often it is helpful to accompany the introduction of words (spoken or signed) with the use of simple gestures and/or objects which serve as symbols or representations for activities. Doing so may help a child develop the understanding that one thing can stand for another, and will also enable him or her to anticipate events.
Think of the many thousands of words and sentences that most children hear before they speak their own first words. A child who is deaf-blind needs comparable language stimulation, adjusted to his or her ability to receive and make sense of it. Parents, caregivers, and teachers face the challenge of providing an environment rich in language that is meaningful and accessible to the child who is deaf-blind. Only with such a rich language environment will the child have the opportunity to acquire language herself or himself. Those around the child can create a rich language environment by continually commenting on the child’s own experience using sign language, speech, or whatever symbol system is accessible to the child. These comments are best made during conversational interactions. A teacher or a parent may, for example, use gesture or sign language to name the object that he or she and the child are both touching, or name the movement that they share. This naming of objects and actions, done many, many times, may begin to give the child who is deaf-blind a similar opportunity afforded to the hearing child—that of making meaningful connections between words and the things for which they stand.
Principal communication systems for persons who are deaf-blind are these:
- touch cues
- object symbols
- picture symbols
- sign language
- Signed English
- Pidgin Signed English
- braille writing and reading
- Tadoma method of speech reading
- American Sign Language
- large print writing and reading
- lip-reading speech
Along with nonverbal and verbal conversations, a child who is deaf-blind needs a reliable routine of meaningful activities, and some way or ways that this routine can be communicated to her or him. Touch cues, gestures, and use of object symbols are some typical ways in which to let a child who is deaf-blind know what is about to happen to her or him. Each time before the child is picked up, for example, the caregiver may gently lift his or her arms a bit, and then pause, giving the child time to ready herself or himself for being handled. Such consistency will help the child to feel secure and to begin to make the world predictable, thus allowing the child to develop expectations. Children and adults who are deaf-blind and are able to use symbolic communication may also be more reliant on predictable routine than people who are sighted and hearing. Predictable routine may help to ease the anxiety which is often caused by the lack of sensory information.
Stay tune for Part II tomorrow on other challenges.
“When significant memory loss occurs among older people, it is generally not due to aging but to organic disorders, brain injury, or neurological illness. Studies have shown that you can help prevent cognitive decline and reduce the risk of dementia with some basic good health habits: staying physically active, getting enough sleep, no smoking, having good social connections, limiting alcohol to no more than one drink a day, eating a Mediterranean style diet.”
Harvard Health Publishing/Harvard Medical School
There’s no denying that as we age chronologically, our body ages right along with us. But research is showing that you can increase your chances of maintaining a healthy brain well into your old age if you add these “smart” foods to your daily eating regimen.
“Brainberries” is what Steven Pratt, MD, author of Superfoods Rx: Fourteen Foods Proven to Change Your Life, calls these tasty fruits. Pratt, who is also on staff at Scripps Memorial Hospital in La Jolla, Calif., says that in animal studies researchers have found that blueberries help protect the brain from oxidative stress and may reduce the effects of age-related conditions such as
Alzheimer‘s disease or dementia. Studies have also shown that diets rich in blueberries significantly improved both the learning capacity and motor skills of aging rats, making them mentally equivalent to much younger rats. Ann Kulze, MD, author of Dr. Ann’s 10-Step Diet: A Simple Plan for Permanent Weight Loss & Lifelong Vitality, recommends adding at least 1 cup of blueberries a day in any form — fresh, frozen, or freeze-dried.
Deep-water fish, such as salmon, are rich in omega-3 essential fatty acids, which are essential for brain function, says Kulze. Both she and Pratt recommend wild salmon for its “cleanliness” and the fact that it is in plentiful supply. Omega-3s also contain anti-inflammatory substances. Other oily fish that provide the benefits of omega-3s are sardines and herring, says Kulze; she recommends a 4-ounce serving, two to three times a week.
Nuts and seeds.
Nuts and seeds are good sources of vitamin E, says Pratt, explaining that higher levels of vitamin E correspond with less cognitive decline as you get older. Add an ounce a day of walnuts, hazelnuts, Brazil nuts, filberts, almonds, cashews, peanuts, sunflower seeds, sesame seeds, flax seed, and unhydrogenated nut butters such as peanut butter, almond butter, and tahini. Raw or roasted doesn’t matter, although if you’re on a sodium-restricted diet, buy unsalted nuts.
Avocados are almost as good as blueberries in promoting brain health, says Pratt. “I don’t think the avocado gets its due,” agrees Kulze. True, the avocado is a fatty fruit, but, says Kulze, it’s a monounsaturated fat, which contributes to healthy blood flow. “And healthy blood flow means a healthy brain,” she says. Avocados also lower blood pressure, says Pratt, and as hypertension is a risk factor for the decline in cognitive abilities, a lower blood pressure should promote brain health. Avocados are high in calories, however, so Kulze suggests adding just 1/4 to 1/2 of an avocado to one daily meal as a side dish.
Whole grains, such as oatmeal, whole-grain breads, and brown rice can reduce the risk for heart disease. “Every organ in the body is dependent on blood flow,” says Pratt. “If you promote cardiovascular health, you’re promoting good flow to the organ system, which includes the brain.” While wheat germ is not technically a whole grain, it also goes on Kulze’s “superfoods” list because in addition to fiber, it has vitamin E and some omega-3s. Kulze suggests 1/2 cup of whole-grain cereal, 1 slice of bread two-thee times day, or 2 tablespoons of wheat germ a day.
Beans are “under-recognized” and “economical,” says Kulze. They also stabilize glucose (blood sugar) levels. The brain is dependent on glucose for fuel, Kulze explains, and since it can’t store the glucose, it relies on a steady stream of energy — which beans can provide. Any beans will do, says Kulze, but she is especially partial to lentils and black beans and recommends 1/2 cup every day.
Pomegranate juice (you can eat the fruit itself but with its many tiny seeds, it’s not nearly as convenient) offers potent antioxidant benefits, says Kulze, which protect the brain from the damage of free radicals. “Probably no part of the body is more sensitive to the damage from free radicals as the brain,” says board-certified neurologist David Perlmutter, MD, author of The Better Brain Book. Citrus fruits and colorful vegetables are also high on Perlmutter’s list of “brainy” foods because of their antioxidant properties — “the more colorful the better,” he says. Because pomegranate juice has added sugar (to counteract its natural tartness), you don’t want to go overboard, says Kulze; she recommends approximately 2 ounces a day, diluted with spring water or seltzer.
Freshly brewed tea.
Two to three cups a day of freshly brewed tea — hot or iced — contains a modest amount of caffeine which, when used “judiciously,” says Kulze — can boost brain power by enhancing memory, focus, and mood. Tea also has potent antioxidants, especially the class known as catechines, which promotes healthy blood flow. Bottled or powdered teas don’t do the trick, however, says Kulze. “It has to be freshly brewed.” Tea bags do count, however.
Let’s end with the good stuff and my favorite desert. Dark chocolate has powerful antioxidant properties, contains several natural stimulants, including caffeine, which enhance focus and concentration, and stimulates the production of endorphins, which helps improve mood. One-half ounce to 1 ounce a day will provide all the benefits you need, says Kulze. This is one “superfood” where more is not better. “You have to do this one in moderation,” says Kulze.
Lastly the prevention of diseases that can impact all organs including our brain. With obesity comes the risk of heart disease, diabetes II, that can lead into further problems down the road with other systems of the human body. To get on prevention check if your body mass index is in the range it should be and if your not sure check online BMI where it is for free.
“Eat all the foods you enjoy—but the key is to do it in smaller quantities, says Elisa Zied, RDN, who has lost and kept off more than 30 pounds since her highest weight in high school. Greens, oranges, reds, purples, yellows…you get the picture. Eating the rainbow will supply your body with a range of disease-fighting phytonutrients, and will naturally fill you up to help you cut back on unhealthy foods, says Dr. Lipman. Remember simple exercises 10minutes a day can boost the metabolism and walking 2 miles a day will help with breakdown.”
“Stress is how the brain and body respond to any demand. Any type of challenge—such as performance at work or school, a significant life change, or a traumatic event—can be stressful. Everyone experiences stress from time to time. There are different types of stress—all of which carry physical and mental health risks. A stressor may be a one-time or short-term occurrence, or it can happen repeatedly over a long time. Some people may cope with stress more effectively and recover from stressful events more quickly than others.”
NIMH National Institute of Mental Health