Von Willebrand disease


Callosum hypoplasia




Spinal cord injury


Multiple disabilities


Waardenburg syndrome


Hearing impairment


Asperger syndrome



Von Willebrand disease (Chao-jin Wang)

The hemorrhage trend of vWD sufferers is subject to great mobility according to different types and seriousness of the disease. type 1 & 2 is less serious, mostly, hemorrhage of skin mucous membrane, such as nose bleeding, which is accompanied by the syndrome of bruise and gastroduodenal bleeding, etc. For syndrome that resembles vWD such as haematoma, muscle and joint bleeding is scarce, while it often happens after exodontia or operation. vWD of type 3 is more serious, with skin mucous membrane bleeding often happening; and is common for bleeding after exodontia or operation, which requires additional treatment to stop bleeding; Due to the reduction of VIII: C, the bleeding within muscle and joint as vWD will always happen.

As investigations carried out in European and American countries show, the incidence rate of this disease is between 0.82~1.6%, quite above that of haemophilia. vWD is among the most common congenital bleeding diseases. According to a survey carried out in Sweden, about 0.8% of the population has wWF genes. Most sufferers (typical vWD or type 1 vWd, type 2 vWD) are of individual dominant inheritance which happens both to men and women. The severe vWD that attacks few patients is caused by homozygous or double heterozygous recessive. Some severe vWD is caused by inheriting homozygous or compound heterozygous for type 1 genetic defect.TOP

Callosum hypoplasia syndrome (Mei-yuan Lin)

For patients with acquired callus loss, their language and perception area, which are under the control of left brain, cannot communicate with the right brain. If their eyes are hooded to test the feeling of both hands, they can neither match the position of both hands nor match both eye sights. The interdiction of 1/3 of genus of corpus callosum leads to the loss of communication between the left and right motor areas, which makes it possible for the left body to imitate movement while it is impossible to follow oral commands, i.e., left-sided apraxia [1]. The rear 1/5 of callus commands visual communication. The interdiction of left occipital lobe and splenium of corpus callusum caused by the obstruction of artery of left rear brain leads to visual disability. Though the left eyesight is normal with no impact on writing (the vision area of right brain communicates with motor area of left brain before splenium), but due to the failure to communicate with the angular gyrus and language area of left brain, the patient cannot make sense nor read; likewise, the patient can match but cannot nominate colors.

While not all the patients with acquired corpus callusum suffer from the above said syndromes, especially, maybe because they suffer incomplete corpus callusum, some congenital patients may not show any of the syndromes. The information gets transmitted by means of anterior/posterior commisure or other routes [2]. Kessler J [3], etc. once reported the case of a corpus callusum patient who suffers complete loss of anterior commisure, to whom language stimulation leads to the increase in metabolisation of dextrose in Wernicke area of both sides and Broca area on the left, and both sides give satisfactory response to the language stimulation; but the patient cannot match olfaction stimulation with letters, the left ear acts incisively to disyllable, which means patients of congenital corpus callusum loss or brain artery communication system always make use of or reorganize various different brain functions to make up the loss.

Formation of the corpus callosum is mainly completed in the 10th to 20th weeks of the fetus, although that the fiber of the corpus callosum is not exceeding the centerline the dysraphism appears in the front of the neural tube, the migration of the corpus callosum’s neurons is incomplete, or there are disabilities in the physically mature of the corpus callosum, all may cause the congenital corpus callosum agenesis [10]. Various disabilities companying with the formation of the neural tube are not surprising, such as the right limb paralysis, hyperopia astigmatism and mental retardation detected in the early in this case. Though the early Wechsler intelligence tests may be flawed, through an active rehabilitation therapy, the patient has to use the left limb and receive the special education of returning to the mainstream, thus the patients can live a closely normal life. The rehabilitation therapy proves the potential of neural plasticity once again.TOP

Bullous Congenital Ichthyosiform Erythoderma (Li-ching Chen)

Ichthyosis, as its name implies, is a congenital skin disease that the rough cracked skin is similar to the ichthyosis. It is a genetic disease, and refers to a group of skin diseases with different magnitudes and the features of drying, thickening and scaling, which includes ichthyosis vugaris (IV), fronds ichthyosis, congenital ichthyosis erythroderma (commonly known as pangolins disease), etc. Some inherit from parents’ abnormal gene, while some comes from the own gene mutation that is unrelated to the family and parents. Ichthyosis often results in disabilities not only in appearance, even in social communication and psychology. Although patients with severe ichthyosis have a poor appearance, the disease is contagious!

At present, ichthyosis can be divided into 20 different types, of which some only have skin lesions, while some may be associated with other organ lesions. The severity varies widely from the patients with the same types of ichthyosis, and the patients with different types of ichthyosis may also have a very similar appearance. Therefore,   when it can not be classified solely from the exterior appearance, the classification often needs the help of a skin biopsy, blood tests, or even a genetic diagnosis.

Ichthyosis can be summarized into two types according to the skin growth rate, one type is that the over-rapid growth and proliferation of skin epidermal cells result in that the skin is peeling and appears bright red, and the other type is that the skin with a normal epidermal growth rate is slowed in scaling, which cause a thick and rough skin and a stiffened epidermis.

General patients have symptoms since they are born, while some are slowly manifesting the symptoms out. There is no radical therapy recently, and the treatment is only targeted at the symptoms. For ichthyosis mainly is skin lesions and involves abnormal genes, the diagnosis and treatment need to rely on the help of the genetic physicians and dermatologists.TOP

Spinal Cord Injury(Chang-hong Yang Li)

Introduction of spinal cord
Vertebra is the combination of a series of spinal vertebras and inter-vertebral discs, and its construction has mutual supports of the joints and can be able to have various functions. Briefly: vertebras are divided into cervical vertebra (7), thoracic vertebrae (12), lumbar vertebrae (5), sacrum and caudal vertebrae (1 in total). There are nerve tissues through the spinal canal, of which some are approaches of the physical functions, like the various separated cables [white matter] and the half-way charging station [gray matter].

Once spinal cord or nerve tissues are injured, it will cause physical disabilities with different extents. There are many causes of spinal cord and vertebra injuries and the most common are: occupational injuries, car accidents, sports injuries and some accidents. In the past 30 to 40 years, doctors have discovered that the treatment of spinal cord and spinal cord traumas was unlike that of general traumas, which does not only target at vertebra injuries and should also pay great attention to other organ dysfunctions caused by spinal cord injuries (dragon bone marrow). The following changes in the chronic phase will increase the incidence of complications or even death of these patients much easily. So far, there has not been so-called recovery in the event of spinal cord injuries. There are no specific drugs to limb numbness and paralysis.

Vertebra and spinal cord injuries are not only a simple problem of vertebras. The loss of nerve functions and disabilities of all organs of the body, which all are caused by spinal cord traumas, need to be taken in consideration in the course of treatment, and the most practical way is to set up a medical team with a physician who has the basic knowledge of this area responsible for the coordination of all concerned specialist. All of the team work together to design a complete treatment program for these patients and provide the best services for them, and also evaluate the long-term effect, patient, so that the patients can obtain the best chance of recovery and adaptation to life.TOP

Physical disabilities, mental, multiple disabilities (Yu-ying Liu)

1. Physical disability is the disease with the minimum number of special children, but it is a group with the most types. Some have very obvious physical disabilities, while some have non-obvious physical disabilities, some are caused by the diseases, and some may be permanent disabilities resulting from accidental injuries.

Patients with physical disabilities may also have disabilities in cardiopulmonary musculoskeletal and nervous system, and due to different functions of these three systems, the patients with physical disabilities have the characteristics of different types.

2. The brain is a nerve center of a person, and is also a center of the spirit control. If certain parts of the various organs of human once have those troubles that can affect the brain's functions, it may cause mental. Such physical diseases occurring in the whole body, which can result in metal and psychological abnormalities, are "organic" diseases to which we refers in medicine. In addition, it also includes genetic diseases (congenital mental retardation, etc.), endocrine disorder (diseases of thyroid, pituitary, adrenal, etc.), metabolic disorder (diabetes, ketone-lack disease) and circulation problems (heart, vascular diseases), etc. and once these diseases violate the brain functions, they may lead to mental abnormalities.

3. Multiple disabilities refer to: When a person suffers from two or more than two kinds of disabilities at different grades, the heavier grade is the diagnosis; when a person suffers two or more than two kinds of disabilities at the same grade, the largest number of disabilities is the diagnosis.TOP

Hypothyroidism, Waardenburg Syndrome (Yu-yan Chou)

1. The epidemics rate of hypothyroidism is around 5 to 20 cases out of 1000 people. The incidence rate of primary hypothyroidism is far greater than that of central hypothyroidism with a ratio of about 1000:1. Hypothyroidism is prone to attack female with the incidence rate going up with aging. Central hypothyroidism is still caused by pendant adenoma, inflammation, infarction etc, or pendant underwent operative treatment, radiotherapy, which affects the pituitary and decreases the thyrotropin-releasing hormone secreted by the pituitary.

What is the symptom of hypothyroidisms? The severity of symptoms is related to the extent of hormone lowering. According to the severity of condition, the hormone lowering manifests very widely, from the most subtle sub-clinical hypothyroidism for which the patients almost have no symptoms, to the most serious myxedema coma that, like this patient, could endanger lives. If hypothyroidisms occur in newborns, these symptoms can be seen, such as sustained physiological jaundice, lethargy and  constipation, If not diagnosed and treated promptly, the symptoms of cretinism will be observed, including the over-short standing, prominent tongue, wide nose, protruding navel, mental retardation and the developmental delay of bones. If occurring in older children, they can be observed to have obstacles in the development of their standing and a delayed puberty. The hypothyroidisms occurring in the adults are even not more specific in symptoms, including fatigue, dry skin, rough and easy-peeling hair, drowsiness, cold-intolerance (in the past few years, the families are all very afraid of the Chinese New Year, for it is often the time to be hospitalized when the annual Chinese New Year comes, I remember it and find that this is because the cold air in winter renders the inadequate thyroid function, slower speech, memory impairment, loss of appetite, weight-gain, peripheral edema, and so on. Patients having central hypothyroidisms usually have the very small thyroid, which is not easy to locate at palpation. According to the definition of "American Association on Mental Retardation", mental retardation refers to intellectual functions that are significantly lower than those normal in the development period (from conception to the age of 18), accompanied by adaptive behavior problems. When we say that a person is mentally retarded, that is, he/she has a notable slower pace, comparing to those persons at the same age, in the academic study, dealing with everyday life, understanding of things surrounding and the ability to adapt to the environment.TOP

2. In our minds, blue eyes should be a characteristic of Western foreigners, but there is a group of friends of over 100 in our country who possess blue eyes, they may be authentic Chinese people; Even if someone had said there is the foreigners descent before a few times, according to the academic inference, in fact, it is almost impossible to have later generations with blue eyes exist. This is simply because the iris blue (blue eyes) is a recessive gene, which tends to be covered by Oriental dark iris as a dominant gene. In fact, the domestic friends with blue eyes and a number of their family members are all the patients having Shi Waardengburg syndrome.

Blue eyes are only one of many symptoms of Waardengburg syndrome, and these patients have blue eyes, while their eyesight is completely unaffected, instead, attention should be paid to the problems of easily occurring hearing-impairment and long-term constipation as complications, which should be found and treated in the early stage so that the patients can receive a good treatment and have a normal and healthy growth.

The incidence of the disease is about one in 20,000 to 40,000 people, and their genetic patterns including the first to the third types are all autosomal dominant inheritance, the new mutation occurs occasionally, while the pattern of the fourth type is an autosomal recessive inheritance. Male and female both may be diseased. Waardengburg syndrome is one of the important reasons of the hearing-impairment, 1.43%~2.7% of hearing-impaired children has this disease and all have sensori-neural hearing defects originating from cochlear.TOP

 Hearing-impairment (Mei-hua Hsu, Chiou-ju Chen)

Hearing-impairment means the hearing function is permanently damaged, and the hearing loss is 25 decibels or more, that is to say, those patients may not hear any usual one-to-one speaking voice without wearing the hearing aids, they are the very so-called hard-of-hearing or deaf persons. The most notable physical characteristic of hearing-impaired persons is to have obvious communication difficulties when they are speaking with other persons, and their language development is slower than those persons with healthy hearing at the same age, their pronunciation is not correct, especially when pronouncing initials, they are often observed to have initials abbreviated, replaced, or lack of nasal. Their pronunciation is often lack of high or low tones and cadence, monotonous and without changes. When listening to others’ speaking, they may pay special attention to the speaker's face and mouth, or facial expressions, and they often want to express the meanings by using their gestures or movements with the help of hands and feet. When speaking with others, they often lean the head forward or turn it to the speaker in order to listen to others’ speaking   content. They may make no response the noise from the environment (such as ringing of the electric bells and telephones, footsteps, automobile trumpets, etc.) or human voice. When in school, they may often overlook the call from teachers or classmates, sometimes fail to pay attention to the lectures, look around and expect others to provide clues of the message.

Their behaviors are also unlike the ordinary people, such as excessive movements, rude and rough actions, all is due to the absence of sound-hearing. They may not know whether their door is closed and open sound is too loud to frighten people, and are also not aware whether they irritate others. Therefore, in groups, they have few friends, often stay alone and have a heavier suspicious heart; they are self-centered, selfish and stubborn, have a low frustration tolerance, and they also do not easily receive advices, not yield to others and easily lose their temper; they have a more immature social relations, and they are easily impulsive, have less self-autonomy and are lack of independence, creativity, joy, the sense of security and motivations of learning; they often have the sense of inferiority, isolation, loneliness and helplessness. Although these above characteristics are more often mentioned in the reports, think it more carefully and you will find an ordinary person who would have these characteristics, wouldn’t he/she? Only because there is on earth a small number of people who are hearing-impaired, a slightly unusual performance of them seems “many” to those people with healthy hearing.TOP

Asperger syndrome(Yu-ling Hsu)

Their behaviors are also unlike the ordinary people, such as excessive movements, rude and rough actions, all is due to the absence of sound-hearing. They may not know whether their door is closed and open sound is too loud to frighten people, and are also not aware whether they irritate others. Therefore, in groups, they have few friends, often stay alone and have a heavier suspicious heart; they are self-centered, selfish and stubborn, have a low frustration tolerance, and they also do not easily receive advices, not yield to others and easily lose their temper; they have a more immature social relations, and they are easily impulsive, have less self-autonomy and are lack of independence, creativity, joy, the sense of security and motivations of learning; they often have the sense of inferiority, isolation, loneliness and helplessness. Although these above characteristics are more often mentioned in the reports, think it more carefully and you will find an ordinary person who would have these characteristics, wouldn’t he/she? Only because there are on earth a small group of people who are hearing-impaired, a slightly unusual performance of them seems “many” to those people with healthy hearing.

Before treatment, children with ADHD shall be given a careful diagnostic analysis. And then based on the evaluation by experts and the behaviors observed by their parents and teachers in a natural environment, the comprehensive diagnosis is made and the disposal and treatment programs will be designed.

2. The clinical manifestation is to have no significant language or cognitive disabilities, but have those impairments in social interaction and limitation, fixation, and interests and activities-repeating which are similar to the symptoms of autism syndrome. Generally speaking, the features of Asperger Syndrome include (1) lack of empathy (2) naive and inappropriate, the one-way social interaction lack of the capacity to establish friendship, which results in the social isolation (3) pedantic monotonous speech (4) strongly absorbing certain limited topics in a mechanical memory way, such as weather, things about the TV channels, train schedules, or maps, etc. but few understand to them, which reflects the self – trend (5) poor ability to communicate in a non-language way (6) unwieldy and poorly coordinated movements and strange postures (K lin & Volkmar, 1995). No significant language or cognitive slower development or disabilities are the major difference between the autistic syndrome and Asperger Syndrome.TOP

Intestinal Neuronal Dysplasia, IND(Hui-ling Wu)

"Megacolon" means "huge colon" (Mega means huge, colon means the large intestine or colon), and may be caused by some congenital causes, and may also be inherent changes caused by other diseases (such as toxic megacolon caused by enteritis). The incidence of Hirschsprung's disease is about one per 5,000 live births, the number of boys is more than that of girls, the possibility of suffering the same disease in the family is about 7%, while in the same family of those patients with the "long-section type" disease, the suffering incidence is up to 20%.

The large intestine lack of nerve ganglions is usually stretching upward from the anus. The length of intestine without ganglions can be shortened merely several centimeters over the anal portal (ultra-short-section type); it also can be up to the entire colon (the long-section type, or the type with the entire colon without nerve ganglions), even to the small intestine. All are lack of nerve ganglions cells, but the vast majority of the disease may violate the section from the descending colon to the rectum where the incidence is the highest (three quarters).

Generally speaking, after entering into a normal man’s mouth, food is digested through the moving of intestines and is discharged through the anus when it is changed into excrements. This complex process may make the entire digestive system as the most cooperative team in the world, if we eat more oily food, intestines will move slower, and if we eat more little-flavored food, intestines will move faster. The function cooperation of all kinds of intestines in our bodies is completed mainly by the message conveying of the nerves, so if the nerves are damaged, the whole moving   of intestines will be in a disorder state, and their functions will decline, while the damaged large and small intestines will lose their normal functions, and some parts of the rectum will also change big.TOP

The person suffering from the intestinal nerve cell dysplasia, also known as Hirschsprung's disease, will make his most intestines lose the normal functions, and a small part of his eating things may be digested by the body’s shaking from his walking around, the other food unable to be digested may be decomposed by the bacteria after it makes the intestines greater, then the gas from the bacterial decomposition to food even enlarge the intestines, that is why those patients have a big belly.

As for the treatment to this disease, the first and important is to deal with its complications. After the condition of patients is stable, then the colon lack of nerve ganglions will be removed and the colon having normal nerve ganglions will be sutured to the anus. However, the neonatal surgery is usually divided into two phases. First, the large intestine having ganglions will be pulled out the abdominal wall to make an “artificial anus” (make an slit in the part before the intestine section absent of ganglions so as to let wastes discharged through this slit and avoid wastes piling up inside), when the patients grow up and have a better physical body (mostly in 3-6 months), the second operation will be carried out to close the artificial anus and complete a appropriate anastomosis for the normal colon and the abnormal colon.  The reason is that the nerves in the pelvic of newborns are very meticulous, the surgery may affect the nerves and other structures around surging areas, and it would increase the incidence of the sequela if performing the surgery prematurely. Recently, there is also a new surgery way that has been completed, but the feasibility of the way must be assessed by physicians.TOP