Amazing Parents / Professionals dealing with Amazing Children
This page is all about our Facebook Community and we hope that you will join us. Below you will find a growing list of conditions and disorders that our community deals with every day. As a community we are here for each other and here to listen. We want to hear from you and we want you to listen to us. We all need a shoulder to cry on from time to time. Here is a pretty big one just for you.
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15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.
About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate. Many of these individuals have delayed speech and language skills. 15q13.3 microdeletion also appears to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy.
1p36 Deletion Syndrome
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.
People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.
Attention deficit hyperactivity disorder (ADHD) is one of the most common childhood disorders and can continue through adolescence and adulthood. Symptoms include difficulty staying focused and paying attention, difficulty controlling behavior, and hyperactivity (over-activity).
ADHD has three subtypes:1
Most symptoms (six or more) are in the hyperactivity-impulsivity categories.
Fewer than six symptoms of inattention are present, although inattention may still be present to some degree.
The majority of symptoms (six or more) are in the inattention category and fewer than six symptoms of hyperactivity-impulsivity are present, although hyperactivity-impulsivity may still be present to some degree.
Children with this subtype are less likely to act out or have difficulties getting along with other children. They may sit quietly, but they are not paying attention to what they are doing. Therefore, the child may be overlooked, and parents and teachers may not notice that he or she has ADHD.
Combined hyperactive-impulsive and inattentive
Six or more symptoms of inattention and six or more symptoms of hyperactivity-impulsivity are present.
Most children have the combined type of ADHD.
What is Aicardi Syndrome?
Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified. Scientists believe that the gene associated with the condition is located on the X chromosome because nearly all affected individuals are female and the only reports of boys having Aicardi syndrome are in boys born with an extra “X” chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) Girls with Aicardi syndrome often develop seizures prior to three months and most before one year of age.
Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) complex seizures, generally starting as infantile spasms, and 3) retinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional features.
Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of mental retardation and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, or other characteristic facial features.
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Most affected children also have difficulty sleeping and need less sleep than usual. Some affected individuals have unusually fair skin and light-colored hair.
With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that are described as “coarse.” Some also develop an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood.
An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.
Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures).
In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.
Apraxia (called “dyspraxia” if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain.
There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.
Arnold Chiari Malformation
Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. There are three primary types of CM. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia, and spinal curvature.
Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or “high-functioning,” end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships.
People with Asperger syndrome have average or above-average intelligence. In contrast to people with other disorders on the autism spectrum, they are not delayed in their language development. However, their ability to carry on a conversation is often impaired by a tendency to take idioms or humorous statements literally and an inability to read non-verbal cues such as body language to understand what others are feeling. They may speak in a monotone voice, have unusual mannerisms, or choose unusual topics of conversation.
Individuals with Asperger syndrome tend to develop an intense interest in a particular subject. This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might also focus on an unusual interest such as bus routes or a particular type of household appliance. Often they are able to remember enormous amounts of detail on their subject of interest. They may want to share this large amount of information with others and may resist diversion to other topics.
People with Asperger syndrome tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as noise or lights.
Other features of Asperger syndrome may include mild impairment of motor skills. For example, basic skills such as crawling and walking may be somewhat delayed. Affected individuals may also have coordination problems that impair their ability to engage in such activities as playing ball games or riding a bicycle. This physical clumsiness may lead to further social isolation of children with Asperger syndrome.
Signs and symptoms of Asperger syndrome may become apparent by the age of 3, when most children begin to develop social skills such as learning to play with others. Some affected children may come to medical attention due to delayed motor skills. In most cases, children with Asperger syndrome are diagnosed during the elementary school years, as their social behavior continues to diverge from the typical developmental path. Difficulties with social skills generally continue into adulthood, and affected individuals are at increased risk of other behavioral or psychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), depression, anxiety, and obsessive-compulsive disorder.
Asthma is a disease that affects your lungs. It is one of the most common long-term diseases of children, but adults have asthma, too. Asthma causes repeated episodes of wheezing, breathlessness, chest tightness, and nighttime or early morning coughing. If you have asthma, you have it all the time, but you will have asthma attacks only when something bothers your lungs.
In most cases, we don’t know what causes asthma, and we don’t know how to cure it. We know that if someone in your family has asthma, you are also more likely to have it.
You can control your asthma by knowing the warning signs of an attack, staying away from things that trigger an attack, and following the advice of your doctor or other medical professional. When you control your asthma:
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).
As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or pain in the arms and legs, and motor neuropathy refers to disturbance in the nerves used for muscle movement.
Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.
Auditory processing disorder
Auditory processing is a term used to describe what happens when your brain recognizes and interprets the sounds around you. Humans hear when energy that we recognize as sound travels through the ear and is changed into electrical information that can be interpreted by the brain. The “disorder” part of auditory processing disorder means that something is adversely affecting the processing or interpretation of the information.
Children with APD often do not recognize subtle differences between sounds in words, even though the sounds themselves are loud and clear. For example, the request “Tell me how a chair and a couch are alike” may sound to a child with APD like “Tell me how a couch and a chair are alike.” It can even be understood by the child as “Tell me how a cow and a hair are alike.” These kinds of problems are more likely to occur when a person with APD is in a noisy environment or when he or she is listening to complex information.
APD goes by many other names. Sometimes it is referred to as central auditory processing disorder (CAPD). Other common names are auditory perception problem, auditory comprehension deficit, central auditory dysfunction, central deafness, and so-called “word deafness.”
The autism spectrum disorders are more common in the pediatric population than are some better known disorders such as diabetes, spinal bifida, or Down syndrome.2 A recent study of a U.S. metropolitan area estimated that 3.4 of every 1,000 children 3-10 years old had autism.3 The earlier the disorder is diagnosed, the sooner the child can be helped through treatment interventions. Pediatricians, family physicians, daycare providers, teachers, and parents may initially dismiss signs of ASD, optimistically thinking the child is just a little slow and will “catch up.”
All children with ASD demonstrate deficits in 1) social interaction, 2) verbal and nonverbal communication, and 3) repetitive behaviors or interests. In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way objects look. Each of these symptoms runs the gamut from mild to severe. They will present in each individual child differently. For instance, a child may have little trouble learning to read but exhibit extremely poor social interaction. Each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of ASD.
Children with ASD do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. In most cases, the problems in communication and social skills become more noticeable as the child lags further behind other children the same age. Some other children start off well enough. Oftentimes between 12 and 36 months old, the differences in the way they react to people and other unusual behaviors become apparent. Some parents report the change as being sudden, and that their children start to reject people, act strangely, and lose language and social skills they had previously acquired. In other cases, there is a plateau, or leveling, of progress so that the difference between the child with autism and other children the same age becomes more noticeable.
ASD is defined by a certain set of behaviors that can range from the very mild to the severe. The following possible indicators of ASD were identified on the Public Health Training Network Webcast, Autism Among Us.4
Bipolar disorder, also known as manic-depressive illness, is a brain disorder that causes unusual shifts in mood, energy, activity levels, and the ability to carry out day-to-day tasks. Symptoms of bipolar disorder are severe. They are different from the normal ups and downs that everyone goes through from time to time. Bipolar disorder symptoms can result in damaged relationships, poor job or school performance, and even suicide. But bipolar disorder can be treated, and people with this illness can lead full and productive lives.
Bipolar disorder often develops in a person’s late teens or early adult years. At least half of all cases start before age 25.1 Some people have their first symptoms during childhood, while others may develop symptoms late in life.
Bipolar disorder is not easy to spot when it starts. The symptoms may seem like separate problems, not recognized as parts of a larger problem. Some people suffer for years before they are properly diagnosed and treated. Like diabetes or heart disease, bipolar disorder is a long-term illness that must be carefully managed throughout a person’s life.
Blindness is defined as the state of being sightless. A blind individual is unable to see. In a strict sense the word blindness denotes the condition of total blackness of vision with the inability of a person to distinguish darkness from bright light in either eye. The terms blind and blindness have been modified in our society to include a wide range of visual impairment. Blindness is frequently used today to describe severe visual decline in one or both eyes with maintenance of some residual vision.
Vision impairment, or low vision, means that even with eyeglasses, contact lenses, medicine or surgery, you don’t see well. Vision impairment can range from mild to severe. Worldwide, between 300 million and 400 million people are visually impaired due to various causes. Of this group, approximately 50 million people are totally blind. Approximately 80% of blindness occurs in people over 50 years old
Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. People who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. Gluten is found mainly in foods but may also be found in everyday products such as medicines, vitamins, and lip balms.
When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villi—the tiny, fingerlike protrusions lining the small intestine. Villi normally allow nutrients from food to be absorbed through the walls of the small intestine into the bloodstream. Without healthy villi, a person becomes malnourished, no matter how much food one eats.
Celiac disease is both a disease of malabsorption—meaning nutrients are not absorbed properly—and an abnormal immune reaction to gluten. Celiac disease is also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy. Celiac disease is genetic, meaning it runs in families. Sometimes the disease is triggered—or becomes active for the first time—after surgery, pregnancy, childbirth, viral infection, or severe emotional stress.
The term cerebral palsy refers to any one of a number of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination but don’t worsen over time. Even though cerebral palsy affects muscle movement, it isn’t caused by problems in the muscles or nerves. It is caused by abnormalities in parts of the brain that control muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later. The early signs of cerebral palsy usually appear before a child reaches 3 years of age. The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a “scissored” gait; and muscle tone that is either too stiff or too floppy. A small number of children have cerebral palsy as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse.
Chronic intestinal pseudo obstruction
Intestinal pseudo-obstruction is a rare condition with symptoms like those caused by a bowel obstruction, or blockage. But when the intestines are examined, no blockage is found. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines.
Intestinal pseudo-obstruction can occur in people of any age, but it occurs more often in children and older adults. Children can have a long-lasting form of the condition called chronic intestinal pseudo-obstruction (CIP). CIP in children is usually present at birth.
In another form of intestinal pseudo-obstruction that mostly affects older adults, the colon becomes enlarged after surgery or illness. This condition is known as acute colonic pseudo-obstruction (ACPO), also called Ogilvie syndrome or acute colonic ileus. ACPO can lead to serious complications and can be life-threatening.
Cleft Lip & Palate
There are many causes of cleft lip and palate. Problems with genes passed down from one or both parents, drugs, viruses, or other toxins can all cause these birth defects. Cleft lip and palate may occur along with other syndromes or birth defects.
A cleft lip and palate can:
Affect the appearance of the face
Lead to problems with feeding and speech
Lead to ear infections
Risk factors include a family history of cleft lip or palate and other birth defects. About 1 out of 2,500 people have a cleft palate.
Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.
Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. Affected women may be cognitively normal, or they may have intellectual disability ranging from mild to profound. Beginning in childhood or adolescence, some people with this condition experience brief episodes of collapse when excited or startled by a loud noise. These attacks are called stimulus-induced drop episodes (SIDEs).
Most affected males and some affected females have distinctive facial features including a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips. These features become more pronounced with age. Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome. Additional features of this condition include short stature, an unusually small head (microcephaly), progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal abnormalities.
Collagen vascular disease occurs when problems with the immune system affect collagen.
Collagen is a tough, fiber-like protein that makes up 30% of body protein. It contributes to the structure of tendons, bones, and connective tissues.
In a class of diseases known as autoimmune disorders, the body’s immune system attacks its own tissues. Some of these diseases have similarities, including arthritis and inflammation of arteries in the tissues that connect joints and other tissues. These diseases are known as collagen vascular diseases.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. (“Hemi-” means “half,” and “dysplasia” refers to abnormal growth.) The right side is affected about twice as often as the left side.
People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life.
CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities.
Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.
CCFDN causes progressive damage to the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in the first few years of life, and as a result children with CCFDN have delayed development of motor skills such as standing and walking. In adolescence, affected individuals develop sensory abnormalities such as numbness and tingling, mainly in the legs. By adulthood they typically have significant difficulties with mobility. Muscle weakness can also lead to skeletal abnormalities such as hand and foot deformities and abnormal curvature of the spine.
People with CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density.
A complication called rhabdomyolysis occurs in some people with CCFDN, typically following a viral infection or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). The presence of myoglobin causes the urine to be red or brown. The muscles may take up to a year to recover, and the episodes may worsen the muscle weakness caused by the neuropathy.
Congenital Heart Disease
Congenital (kon-JEN-ih-tal) heart defects are problems with the heart’s structure that are present at birth. These defects can involve:
The interior walls of the heart
The valves inside the heart
The arteries and veins that carry blood to the heart or the body
Congenital heart defects change the normal flow of blood through the heart.
There are many types of congenital heart defects. They range from simple defects with no symptoms to complex defects with severe, life-threatening symptoms.
Congenital heart defects are the most common type of birth defect. They affect 8 out of every 1,000 newborns. Each year, more than 35,000 babies in the United States are born with congenital heart defects.
Many of these defects are simple conditions. They need no treatment or are easily fixed. Some babies are born with complex congenital heart defects. These defects require special medical care soon after birth.
The diagnosis and treatment of complex heart defects has greatly improved over the past few decades. As a result, almost all children who have complex heart defects survive to adulthood and can live active, productive lives.
Most people who have complex heart defects continue to need special heart care throughout their lives. They may need to pay special attention to how their condition affects issues such as health insurance, employment, birth control and pregnancy, and other health issues.
In the United States, more than 1 million adults are living with congenital heart defects.
Cornelia de Lange Syndrome
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
Cornelia de Lange syndrome is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. The facial differences include arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.
Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hirsutism), an unusually small head (microcephaly), hearing loss, short stature, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, eye problems, and skeletal abnormalities also have been reported in people with this condition.
Cortical visual impairment
Cortical Visual Impairment (CVI) is diagnosed when children show abnormal visual responses that aren’t caused by the eyes themselves. When CVI is suspected, fixation and following—even to intense stimulation—may be poor, and the child will not respond normally to people’s faces.
CVI is the most common cause of permanent visual impairment in children.
Accompanying features of CVI include cerebral palsy and developmental delays.
In many cases, partial recovery of vision is possible.
Cystic fibrosis is an inherited disease of the mucus glands that affects many body systems. The disorder’s most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems.
Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can obstruct the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.
Most people with cystic fibrosis also have digestive problems because thick, sticky mucus interferes with the function of the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, preventing these enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. Some babies with cystic fibrosis have meconium ileus, a blockage of the intestine that occurs shortly after birth.
Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience medical problems affecting the respiratory, digestive, and reproductive systems. For example, most men with cystic fibrosis are unable to father children (infertile) because the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. This condition is known as congenital bilateral absence of the vas deferens (CBAVD). Infertility is also possible, though less common, in women with cystic fibrosis.
Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the internal base of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.
The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability, vomiting, and convulsions, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.
Dandy-Walker Syndrome is frequently associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.
Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear “out of sync” with their environment. Symptoms vary and may include poor balance and coordination, clumsiness, vision problems, perception difficulties, emotional and behavioral problems, difficulty with reading, writing, and speaking, poor social skills, poor posture, and poor short-term memory. Although individuals with the disorder may be of average or above average intelligence, they may behave immaturely.
Disruptive behavior disorder
Healthy Children > Health Issues > Conditions > Emotional Problems > Disruptive Behavior Disorders
Disruptive Behavior Disorders
Disruptive behavior disorders are among the easiest to identify of all coexisting conditions because they involve behaviors that are readily seen such as temper tantrums, physical aggression such as attacking other children, excessive argumentativeness, stealing, and other forms of defiance or resistance to authority. These disorders, which include ODD and CD, often first attract notice when they interfere with school performance or family and peer relationships, and frequently intensify over time.
Behaviors typical of disruptive behavior disorders can closely resemble ADHD—particularly where impulsivity and hyperactivity are involved—but ADHD, ODD, and CD are considered separate conditions that can occur independently. About one third of all children with ADHD have coexisting ODD, and up to one quarter have coexisting CD. Children with both conditions tend to have more difficult lives than those with ADHD alone because their defiant behavior leads to so many conflicts with adults and others with whom they interact. Early identification and treatment may, however, increase the chances that your child can learn to control these behaviors.
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy. The degree of intellectual disability varies, but it is usually mild to moderate.
People with Down syndrome may be born with a variety of birth defects. About half of all affected children have a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.
Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, about 1 percent of children with Down syndrome develop cancer of blood-forming cells (leukemia).
Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50.
Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures – fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus – a state of continuous seizure requiring emergency medical care – also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.
In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age.
Dysarthria is a condition that results in distorted speech. The cause is difficulty controlling or coordinating the muscles you use when you speak, or weakness of those muscles. Dysarthria often is characterized by slurred or slow speech that can be difficult to understand.
Common causes of dysarthria include stroke, brain injury, brain tumor, conditions that cause facial paralysis or weakness, and degenerative disorders. Dysarthria may also be caused by certain medications, such as sedatives or narcotics.
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.
Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood.
Treatment of dysarthria is directed at the underlying cause when possible, which may improve speech. Speech therapy often helps people with dysarthria improve speech. If dysarthria is caused by prescription medications, changing or discontinuing the medications may help.
Epilepsy is a brain disorder in which clusters of nerve cells, or neurons, in the brain sometimes signal abnormally. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. Epilepsy is a disorder with many possible causes. Anything that disturbs the normal pattern of neuron activity – from illness to brain damage to abnormal brain development – can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, or some combination of these factors. Having a seizure does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. EEGs and brain scans are common diagnostic test for epilepsy.
Gastroparesis, also called delayed gastric emptying, is a disorder in which the stomach takes too long to empty its contents. Normally, the stomach contracts to move food down into the small intestine for digestion. The vagus nerve controls the movement of food from the stomach through the digestive tract. Gastroparesis occurs when the vagus nerve is damaged and the muscles of the stomach and intestines do not work normally. Food then moves slowly or stops moving through the digestive tract.
Your esophagus is the tube that carries food from your mouth to your stomach. Gastroesophageal reflux disease (GERD) happens when a muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it.
You may feel a burning in the chest or throat called heartburn. Sometimes, you can taste stomach fluid in the back of the mouth. This is acid indigestion. If you have these symptoms more than twice a week, you may have GERD.
Anyone, including infants and children, can have GERD. If not treated, it can lead to more serious health problems. In some cases, you might need medicines or surgery. However, many people can improve their symptoms by
Avoiding alcohol and spicy, fatty or acidic foods that trigger heartburn
Eating smaller meals
Not eating close to bedtime
Losing weight if needed
Wearing loose-fitting clothes
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Global Developmental Delay
Global developmental delay is used to describe an overall delay in two or more major areas of a child’s development. Developmental delays, in general, are looked for at regular visits to the doctor. The pediatrician will determine if global developmental delay is present. Causes for global developmental delay could be genetic or environmental. Some causes are genetic such as Fragile X syndrome, an inherited form of mental retardation, and Rett syndrome, an inherited disease that causes problems with the nervous system. Other causes are premature birth, lead exposure and thyroid problems. If you suspect your child has any developmental delays, you should discuss them with his pediatrician.
Growth Hormone Deficiency
Growth hormone deficiency refers to abnormally short height in childhood due to the lack of growth hormone.
Gillian Barre Syndrome
Guillain-Barre syndrome is a serious disorder that occurs when the body’s defense (immune) system mistakenly attacks part of the nervous system. This leads to nerve inflammation that causes muscle weakness.
Chronic thyroiditis or Hashimoto’s disease is a common thyroid gland disorder. It can occur at any age, but is most often seen in middle-aged women. It is caused by a reaction of the immune system against the thyroid gland.
The disease begins slowly. It may take months or even years for the condition to be detected. Chronic thyroiditis is most common in women and people with a family history of thyroid disease. It affects between 0.1% and 5% of all adults in Western countries.
Hashimoto’s disease may, in rare cases, be associated with other endocrine disorders caused by the immune system. Hashimoto’s disease can occur with adrenal insufficiency and type 1 diabetes. In these cases, the condition is called type 2 polyglandular autoimmune syndrome (PGA II).
Less commonly, Hashimoto’s disease occurs as part of a condition called type 1 polyglandular autoimmune syndrome (PGA I), along with:
Fungal infections of the mouth and nails
Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of fluid in the brain. Although hydrocephalus was once known as “water on the brain,” the “water” is actually cerebrospinal fluid (CSF) — a clear fluid surrounding the brain and spinal cord. The excessive accumulation of CSF results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or developmental disorders such as spina bifida and encephalocele. Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages. For example, hydrocephalus ex-vacuo occurs when there is damage to the brain caused by stroke or traumatic injury. Normal pressure hydrocephalus occurs most often among the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery, although many people develop normal pressure hydrocephalus without an obvious cause. Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic nerve), downward deviation of the eyes (called “sunsetting”), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of development (in children), lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.
Hyperacusis (also spelled hyperacousis) is a health condition characterized by an over-sensitivity to certain frequency ranges of sound (a collapsed tolerance to normal environmental sound). A person with severe hyperacusis has difficulty tolerating everyday sounds, some of which may seem unpleasantly loud to that person but not to others.
It can be acquired as a result of damage sustained to the hearing apparatus, or inner ear. There is speculation that the efferent portion of the auditory nerve (olivocochlear bundle) has been affected (efferent meaning fibers that originate in the brain which serve to regulate sounds). This theory suggests that the efferent fibers of the auditory nerve are selectively damaged, while the hair cells that allow the hearing of pure tones in an audiometric evaluation remain intact. In cases not involving aural trauma to the inner ear, hyperacusis can also be acquired as a result of damage to the brain or the neurological system. In these cases, hyperacusis can be defined as a cerebral processing problem specific to how the brain perceives sound. In rare cases, hyperacusis may be caused by a vestibular disorder. This type of hyperacusis, called vestibular hyperacusis, is caused by the brain perceiving certain sounds as motion input as well as auditory input.
Although severe hyperacusis is rare, a lesser form of hyperacusis affects musicians, making it difficult for them to play in the very loud environment of a rock band or orchestra which previously gave them no problems. It also makes attendance at loud discos or live events difficult for a portion of the population. Given that sound levels at such events usually exceed recommended safe levels of exposure, this is a problem which is probably showing up variations between people, which may be genetic, or the result of stress or ill-health, or it may be caused by abnormal response in the tensor tympani and stapedius muscles which function in the normal acoustic reflex response that protects the inner ear from loud sounds (reference needed).
Familial hyperaldosteronism is a condition in which the adrenal glands, which are small glands located on top of each kidney, produce excessive amounts of the hormone aldosterone. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys. Excess aldosterone leads to increased retention of salt, which in turn increases the body’s fluid levels and blood pressure. People with familial hyperaldosteronism may experience severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
Familial hyperaldosteronism is categorized into three types. Familial hyperaldosteronism type I, in which hypertension generally appears in childhood, can be treated with certain steroid medications called glucocorticoids, and so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. Familial hyperaldosteronism type III is characterized by enlargement of the adrenal glands to up to six times their normal size. Affected individuals experience childhood onset of severe hypertension that is difficult to treat and often results in damage to organs such as the heart and kidneys.
There are other forms of hyperaldosteronism that are not familial. These conditions may be caused by various problems in the adrenal glands or kidneys. In some cases, no cause can be found.
Hypotonia is a medical term used to describe decreased muscle tone (the amount of resistance to movement in a muscle). It is not the same as muscle weakness, although the two conditions can co-exist. Hypotonia may be caused by trauma, environmental factors, or by genetic, muscle, or central nervous system disorders, such as Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes hypotonia. Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, lethargy, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. However, depending on the underlying condition, some children with hypotonia may take longer to develop social, language, and reasoning skills. When hypotonia develops in the adult years, it may be due to diseases associated with cerebellar degeneration (such as multiple sclerosis, Friedreich’s ataxia, or multiple system atrophy) in which neurons in the cerebellum — the area of the brain that controls muscle coordination and balance — deteriorate and die.
An immune disorder is a dysfunction of the immune system. These disorders can be characterized in several different ways:
By the component(s) of the immune system affected
By whether the immune system is overactive or underactive
By whether the condition is congenital or acquired
According to the International Union of Immunological Societies, more than 150 primary immunodeficiency diseases (PIDs) have been characterized. However, the number of acquired immunodeficiencies exceeds the number of PIDs.
It has been suggested that most people have at least one primary immunodeficiency. Due to redundancies in the immune system, though, many of these are never detected.
Immunoglobulin deficiency syndromes are a group of disorders that involve defects of any component of the immune system or a defect of another system that affects the immune system, leading to an increased incidence or severity of infection. In these disorders, specific diseasefighting antibodies (immunoglobulins such as IgG, IgA, and IgM) are either missing or are present in reduced levels. Children who have immunodeficiency syndromes may be subject to infection, diseases, disorders, or allergic reactions to a greater extent than individuals with fully functioning immune systems.
An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.
Intellectual disability refers to a group of disorders characterized by a limited mental capacity and difficulty with adaptive behaviors such as managing money, schedules and routines, or social interactions. Intellectual disability originates before the age of 18 and may result from physical causes, such as autism or cerebral palsy, or from nonphysical causes, such as lack of stimulation and adult responsiveness.
Ketotic hypoglycemia is a medical term used in two ways: (1) broadly, to refer to any circumstance in which low blood glucose is accompanied by ketosis, and (2) in a much more restrictive way to refer to recurrent episodes of hypoglycemic symptoms with ketosis and, often, vomiting, in young children. The first usage refers to a pair of metabolic states (hypoglycemia plus ketosis) that can have many causes, while the second usage refers to a specific “disease” called ketotic hypoglyemia.
Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.
Branchiootorenal (BOR) syndrome is a genetic condition that typically disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition can vary, however.
“Branchio-” refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with branchiootorenal syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. In some people, abnormal connections called fistulae form passages between these cysts and the surface of the neck. Fistulae can also develop between the skin of the neck and the throat, near the tonsils. Branchial cleft cysts and fistulae can cause medical problems if they become infected.
“Oto-” refers to the ear; most people with branchiootorenal syndrome have hearing loss and other ear abnormalities. The hearing loss is known as sensorineural deafness if it is caused by changes in the inner ear, and conductive deafness if it is caused by changes in the middle ear. Branchiootorenal syndrome can also involve hearing loss that results from changes in both the inner ear and the middle ear, which is called mixed hearing loss. Other ear abnormalities associated with branchiootorenal syndrome include malformations of the inner ear or middle ear and abnormally shaped outer ears (pinnae). Some affected people also have tiny holes in the skin (preauricular pits) or small flaps of skin (preauricular tags) just in front of the ear.
“Renal” refers to the kidneys; branchiootorenal syndrome causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.
Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol, became infected with a cytomegalovirus, rubella (German measles), or varicella (chicken pox) virus, was exposed to certain toxic chemicals, or had untreated phenylketonuria (PKU). Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy. Depending on the severity of the accompanying syndrome, children with microcephaly may have mental retardation, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities. Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.
Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.
Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).
During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.
Additional signs and symptoms of neurofibromatosis type 1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention deficit hyperactivity disorder (ADHD) occur frequently in affected individuals.
Nonverbal communication is usually understood as the process of communication through sending and receiving wordless (mostly visual) messages – i.e., language is not the only source of communication, there are other means also. Messages can be communicated through gestures and touch (Haptic communication), by body language or posture, by facial expression and eye contact. Meaning can also be communicated through object or artifacts (such as clothing, hairstyles or architecture). Speech contains nonverbal elements known as paralanguage, including voice quality, rate, pitch, volume, and speaking style, as well as prosodic features such as rhythm, intonation and stress. Dance is also regarded as a form of nonverbal communication. Likewise, written texts have nonverbal elements such as handwriting style, spatial arrangement of words, or the physical layout of a page.
However, much of the study of nonverbal communication has focused on face-to-face interaction, where it can be classified into three principal areas: environmental conditions where communication takes place, the physical characteristics of the communicators, and behaviors of communicators during interaction.
Obsessive-Compulsive Disorder, OCD, is an anxiety disorder and is characterized by recurrent, unwanted thoughts (obsessions) and/or repetitive behaviors (compulsions). Repetitive behaviors such as handwashing, counting, checking, or cleaning are often performed with the hope of preventing obsessive thoughts or making them go away. Performing these so-called “rituals,” however, provides only temporary relief, and not performing them markedly increases anxiety. More about Obsessive-Compulsive Disorder.
All children are oppositional from time to time, particularly when tired, hungry, stressed or upset. They may argue, talk back, disobey, and defy parents, teachers, and other adults. Oppositional behavior is often a normal part of development for two to three year olds and early adolescents. However, openly uncooperative and hostile behavior becomes a serious concern when it is so frequent and consistent that it stands out when compared with other children of the same age and developmental level and when it affects the child’s social, family and academic life.
In children with Oppositional Defiant Disorder (ODD), there is an ongoing pattern of uncooperative, defiant, and hostile behavior toward authority figures that seriously interferes with the youngster’s day to day functioning. Symptoms of ODD may include:
Frequent temper tantrums
Excessive arguing with adults
Often questioning rules
Active defiance and refusal to comply with adult requests and rules
Deliberate attempts to annoy or upset people
Blaming others for his or her mistakes or misbehavior
Often being touchy or easily annoyed by others
Frequent anger and resentment
Mean and hateful talking when upset
Spiteful attitude and revenge seeking
PANDAS, is an abbreviation for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections. The term is used to describe a subset of children who have Obsessive Compulsive Disorder (OCD) and/or tic disorders such as Tourette’s Syndrome, and in whom symptoms worsen following strep. infections such as “Strep throat” and Scarlet Fever.
The children usually have dramatic, “overnight” onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also become moody, irritable or show concerns about separating from parents or loved ones. This abrupt onset is generally preceeded by a Strep. throat infection.
What is the mechanism behind this phenomenon? At present, it is unknown but researchers at the NIMH are pursuing a theory that the mechanism is similar to that of Rheumatic Fever, an autoimmune disorder triggered by strep. throat infections. In every bacterial infection, the body produces antibodies against the invading bacteria, and the antibodies help eliminate the bacteria from the body. However in Rheumatic Fever, the antibodies mistakenly recognize and “attack” the heart valves, joints, and/or certain parts of the brain. This phenomenon is called “molecular mimicry”, which means that proteins on the cell wall of the strep. bacteria are similar in some way to the proteins of the heart valve, joints, or brain. Because the antibodies set off an immune reaction which damages those tissues, the child with Rheumatic Fever can get heart disease (especially mitral valve regurgitation), arthritis, and/or abnormal movements known as Sydenham’s Chorea or St. Vitus Dance.
In PANDAS, it is believed that something very similar to Sydenham’s Chorea occurs. One part of the brain that is affected in PANDAS is the Basal Ganglia, which is believed to be responsible for movement and behavior. Thus, the antibodies interact with the brain to cause tics and/or OCD, instead of Sydenham Chorea.
Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) is one of the autism spectrum disorders and is used to describe individuals who do not fully meet the criteria for autistic disorder or Asperger syndrome.
PDD-NOS may be thought of as “subthreshold autism,” or a diagnosis one can give a person who has “atypical symptomatology.” 2 In other words, when someone has autistic characteristics but some of their symptoms are mild, or they have symptoms in one area (like social deficits), but none in another key area (like restricted, repetitive behaviors), they may be given the PDD-NOS label.
Pica ( /ˈpaɪkə/ py-kə) is a medical disorder characterized by an appetite for substances largely non-nutritive (e.g., metal, clay, coal, sand, dirt, soil, feces, chalk, pens and pencils, paper, batteries, spoons, toothbrushes, soap, mucus, latex gloves, ash, gum, lip balm, tacks and other office supplies, etc.) For these actions to be considered pica, they must persist for more than one month at an age where eating such objects is considered developmentally inappropriate. The condition’s name originates from the Latin word for magpie, a bird that is reputed to eat almost anything. Pica is seen in all ages, particularly in pregnant women, small children, and those with developmental disabilities.
Pierre Robin Syndrome
Pierre Robin syndrome is a condition present at birth, in which the infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing.
Renal Tubular Acidosis
Distal renal tubular acidosis is a disease that occurs when the kidneys don’t remove acid properly into the urine, leaving the blood too acidic (called acidosis).
Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.
Rubinstien Taybi Syndrome
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.
Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood.
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly).
The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting.
The severity of this condition varies widely, even among members of the same family. Some individuals with SCAD deficiency never develop any symptoms of the condition.
Scheuermann’s disease (pronounced ‘Shoy-eh-ah-man’ though very often mispronounced as ‘Sherman’) is a self-limiting skeletal disorder of childhood. It is also known as Sherman’s Disease, Scheuermann’s kyphosis (since it results in kyphosis), Calvé disease and Juvenile Osteochondrosis of the Spine. It is named after Holger Werfel Scheuermann. Scheuermann’s disease describes a condition where the vertebrae grow unevenly with respect to the Sagittal plane; that is, the anterior angle is often greater than the posterior. This uneven growth results the signature “wedging” shape of the vertebrae, causing kyphosis.
Sensory processing disorder
Sensory processing (sometimes called “sensory integration” or SI) is a term that refers to the way the nervous system receives messages from the senses and turns them into appropriate motor and behavioral responses. Whether you are biting into a hamburger, riding a bicycle, or reading a book, your successful completion of the activity requires processing sensation or “sensory integration.”
Sensory Processing Disorder (SPD, formerly known as “sensory integration dysfunction”) is a condition that exists when sensory signals don’t get organized into appropriate responses. Pioneering occupational therapist and neuroscientist A. Jean Ayres, PhD, likened SPD to a neurological “traffic jam” that prevents certain parts of the brain from receiving the information needed to interpret sensory information correctly. A person with SPD finds it difficult to process and act upon information received through the senses, which creates challenges in performing countless everyday tasks. Motor clumsiness, behavioral problems, anxiety, depression, school failure, and other impacts may result if the disorder is not treated effectively.
One study (Ahn, Miller, Milberger, McIntosh, 2004) shows that at least 1 in 20 children’s daily lives is affected by SPD. Another research study by the Sensory Processing Disorder Scientific Work Group (Ben-Sasson, Carter, Briggs-Gowen, 2009) suggests that 1 in every 6 children experiences sensory symptoms that may be significant enough to affect aspects of everyday life functions. Symptoms of Sensory Processing Disorder, like those of most disorders, occur within a broad spectrum of severity. While most of us have occasional difficulties processing sensory information, for children and adults with SPD, these difficulties are chronic, and they disrupt everyday life.
Anxiety is a feeling of nervousness, apprehension, fear, or worry. Some fears and worries are justified, such as worry about a loved one or in anticipation of taking a quiz, test, or other examination. Problem anxiety interferes with the sufferer’s ability to sleep or otherwise function. It is noteworthy that teenagers are particularly susceptible to having irritability as a symptom of a number of emotional problems, including anxiety. Anxiety may occur without a cause, or it may occur based on a real situation but may be out of proportion to what would normally be expected. Severe anxiety can have a serious impact on daily life.
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning (e.g., lead poisoning) or reaction to pharmaceutical drugs, particularly neuroleptics. Treatment is difficult and has been limited to minimizing the symptoms of the disorder, since there is no cure available.
Severe expressive and receptive disorder
Mixed receptive-expressive language disorder is generally a disorder of childhood. There are two types of mixed receptive-expressive language disorder: developmental and acquired. Developmental mixed receptive-expressive language disorder does not have a known cause and normally appears at the time that a child is learning to talk. Acquired mixed receptive-expressive language disorder is caused by direct damage to the brain . It occurs suddenly after such events as a stroke or traumatic head injury. The acquired type can occur at any age.
Read more: Mixed receptive-expressive language disorder – children, causes, DSM, people, brain, skills, health.
There are three general causes of scoliosis:
Congenital (present at birth) scoliosis is due to a problem with the formation of the spine bones (vertebrae) or fused ribs during development in the womb or early in life.
Neuromuscular scoliosis is caused by problems such as poor muscle control or muscle weakness, or paralysis due to diseases such as cerebral palsy, muscular dystrophy, spina bifida, and polio.
Idiopathic scoliosis is scoliosis of unknown cause. Idiopathic scoliosis in adolescents is the most common type.
Some people may be prone to curving of the spine. Most cases occur in girls. Curves generally worsen during growth spurts. Scoliosis in infants and young children are less common, and commonly affect boys and girls equally.
Sleep apnea is a common disorder that can be serious. In sleep apnea, your breathing stops or gets very shallow. Each pause in breathing typically lasts 10 to 20 seconds or more. These pauses can occur 20 to 30 times or more an hour.
The most common type is obstructive sleep apnea. That means you are unable to get enough air through your mouth and nose into your lungs. When that happens, the amount of oxygen in your blood may drop. Normal breaths resume with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea.
When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents and other medical problems. If you have it, it is important to get treatment.
NIH: National Heart, Lung, and Blood Institute.
Is it hard for you to fall asleep or stay asleep though the night? Do you wake up feeling tired or feel very sleepy during the day, even if you have had enough sleep? You might have a sleep disorder. The most common kinds are
Insomnia – a hard time falling or staying asleep
Sleep apnea – breathing interruptions during sleep
Restless legs syndrome – a tingling or prickly sensation in the legs
Narcolepsy – daytime “sleep attacks”
Nightmares, night terrors, sleepwalking, sleep talking, head banging, wetting the bed and grinding your teeth are kinds of sleep problems called parasomnias. There are treatments for most sleep disorders. Sometimes just having regular sleep habits can help.
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the great toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.
Spina bifida is a condition in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord. As a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Spina bifida results when a structure called the neural tube fails to close completely during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD).
Children born with spina bifida often have a fluid-filled sac on their back covered by skin. If the sac contains part of the spinal cord and its protective covering, the abnormality is known as a myelomeningocele. If it does not, the abnormality is known as a meningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.
There is also a milder form of the condition called spina bifida occulta, in which the spinal column is abnormal but the nerves of the spinal cord do not stick out through an opening in the spine. Spina bifida occulta usually causes no health problems, although rarely it can cause back pain or changes in bladder function.
Spinal Muscular Atrophy Type II
Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair. The lower extremities are most often affected. Complications include scoliosis and chronic shortening of muscles or tendons around joints.
Amblyopia, otherwise known as lazy eye, is a disorder of the visual system that is characterized by poor or lack of vision in an eye that is otherwise physically normal, or out of proportion to associated structural abnormalities. It has been estimated to affect 1–5% of the population.
Amblyopia means that visual stimulation either fails to transmit or is poorly transmitted through the optic nerve to the brain for a continuous period of time. It often occurs during early childhood, resulting in poor or dim vision. Amblyopia normally affects only one eye, but it is possible to be amblyopic in both eyes if both fail to receive good, clear visual images. Detecting the condition in early childhood increases the chance of successful treatment.
The colloquialism “lazy eye” is frequently used to refer to amblyopia. The term “lazy eye” is imprecise because it is a layman’s term for strabismus, particularly exotropia. 
Strabismus is a disorder in which the two eyes do not line up in the same direction, and therefore do not look at the same object at the same time. The condition is more commonly known as “crossed eyes.”
A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. The symptoms of a stroke include sudden numbness or weakness, especially on one side of the body; sudden confusion or trouble speaking or understanding speech; sudden trouble seeing in one or both eyes; sudden trouble with walking, dizziness, or loss of balance or coordination; or sudden severe headache with no known cause. There are two forms of stroke: ischemic – blockage of a blood vessel supplying the brain, and hemorrhagic – bleeding into or around the brain.
Tethered spinal cord syndrome
Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.
Ventriculomegaly is a brain condition that occurs when the lateral ventricles become dilated. The most common definition uses a width of the atrium of the lateral ventricle of greater than 10 mm. This occurs in around 1% of pregnancies. When this measurement is between 10 and 15 mm, the ventriculomegaly may be described as mild to moderate. When the measurement is greater than 15mm, the ventriculomegaly may be classified as more severe. Enlargement of the ventricles may occur for a number of reasons, such as loss of brain volume (perhaps due to infection or infarction), or impaired outflow or absorption of cerebrospinal fluid from the ventricles. Often, however, there is no identifiable cause. The interventricular foramen may be congenitally malformed, or may have become obstructed by infection, hemorrhage, or rarely tumor, which may impair the drainage of cerebrospinal fluid, and thus accumulation in the ventricles. This diagnosis is generally found in routine fetal anomaly scans at 18–22 weeks gestation. It is one of the more common abnormal brain findings on prenatal ultrasound, occurring in around 1–2 per 1000 pregnancies. In many cases of mild ventriculomegaly, however, there is resolution of ventriculomegaly during the pregnancy.