“7 Disorders are part of or closely related to Autism. Each disorder has symptoms commonly seen with autism, as well as its own specific symptoms. These disorders are:
Autism Research Institute (7 Disorders Closely Related to Autism – Autism Research Institute)
Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. The most significant medical problem associated with WS is the cardiovascular disease caused by the narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.
Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.
However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music.
WS affects 1 in 7,500 – 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.
Unlike disorders that can make connecting with your child difficult, children with Williams syndrome tend to be social, friendly and endearing. Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.
But there are major struggles as well. Many babies have life-threatening cardiovascular problems. Children with WS need costly and ongoing medical care and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding. As they grow, they struggle with things like spatial relations, numbers, and abstract reasoning, which can make daily tasks a challenge. As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential. Many adults with WS contribute to their communities as volunteers or paid employees; often working at assisted living homes for senior citizens, hospitals and libraries, or as store greeters or veterinary aides.
However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
Unfortunately there is no cure for Williams syndrome, nor is there a standard course of treatment.
The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver.
Where you can find additional information about Williams syndrome:
You may find the following resources about Williams syndrome helpful. These materials are written for the general public.
“Homocysteine is a sulfur-containing amino acid produced during the metabolism of methionine, an essential amino acid found in dietary protein. Normally, homocysteine is converted into other substances with the help of B vitamins—folate (B9), B6, and B12. Epidemiological studies have consistently shown that higher homocysteine levels correlate with increased risk of coronary artery disease and stroke.”
Cleveland Clinic (Homocysteine: Function, Levels & Health Effects)
Homocysteine is a common amino acid in your blood. You get it mostly from eating meat. High levels of it are linked to early development of heart disease.
In fact, a high level of homocysteine is a risk factor for heart disease. It’s associated with low levels of vitamins B6, B12, and folate, as well as renal disease. Research has shown, however, that getting your homocysteine levels down with vitamins doesn’t reduce your chance of having heart disease.
There does appear to be a relationship between high levels of homocysteine and artery damage. That can lead to atherosclerosis (hardening of the arteries) and blood clots. Arteries filling up with blockages
Studies have shown that high levels of homocysteine are caused by a lack of nutrients in the diet, particularly the B group of vitamins. Without these essential vitamins your body is unable to produce the enzymes necessary to remove homocysteine efficiently from your blood. Homocysteine will cause damage to your arteries when present in very high concentrations.
Other causes may include aging, drug and alcohol use, impaired kidney function, problems with B12 absorption, smoking and obesity.
A lack of B Vitamins leads to elevated homocysteine levels which is why vegetarians are particularly at risk due to the lack of meat in their diets. Fortunately the situation is easily treatable. In the late 60’s Dr. Kilmer McCully determined through extensive research that taking adequate amounts of folic acid (vitamin B9), along with vitamins B6 and B12 will help homocysteine levels normalize.
If you have high homocysteine levels, talk to your doctor about how to change your diet.
Don’t Forget:
“Fibrodysplasia ossificans progressiva (FOP) can be caused by a genetic condition where people are born with bunions and their body’s muscle tissue and connective tissues, like tendons and ligaments, turn into bone on the outside of their skeleton. This condition restricts movement and can cause a loss of mobility over time in people diagnosed with the condition.
Fibrodysplasia ossificans progressiva can also affect anyone because it’s most often the result of a new genetic mutation that wasn’t inherited from a parent. Genetic mutations are unpredictable. They occur during fertilization due to an error when cells divide and replicate but their can be outside factors as causes also.”
Cleveland Clinic (Fibrodysplasia Ossificans Progressiva: Causes, Symptoms, Treatment, Outlook)
It is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement.
This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area.
FOP is almost always caused by a mutation at the same place in the ACVR1 gene (The ACVR1 gene provides instructions for making the activin receptor type-1 (ACVR1) protein, which is a member of a protein family called bone morphogenetic protein (BMP) type I receptors.) and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.
-Fibrodysplasia ossificans progressiva (FOP) is characterized by the gradual replacement of muscle tissue and connective tissue (such as tendons and ligaments) by bone, restricting movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.
-The formation of extra-skeletal bone causes progressive loss of mobility as the joints become affected. Speaking and eating may also become difficult as the mouth becomes affected. Over time, people with FOP may become malnourished because of the inability to eat. They may also develop breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.
-Any trauma to the muscles of an individual with FOP (a fall or an invasive medical procedure) may trigger episodes of muscle swelling and inflammation followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as the flu.
-Affected individuals may also have short thumbs and other skeletal abnormalities.
-Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
-Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In only a small number of cases, an affected person has inherited the mutation from one affected parent.
-Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
-The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
There is currently no definitive treatment. However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva. Other medications, such as muscle relaxants, mast cell inhibitors, and aminobisphosphonates, if appropriate, should be closely monitored by a physician. Surgery to remove heterotopic and extra-skeletal bone is risky and can potentially cause painful new bone growth.
References:
“Seizures are unpredictable. When a person has a seizure, it is usually not in a doctor’s office or other medical setting where health care providers can observe what is happening, so diagnosing seizures is a challenge. Accurate diagnosis depends on taking a careful medical history and using brain imaging and other tests to assess abnormal patterns of electrical activity in the brain. Proper diagnosis of seizures and epilepsy is essential for effective treatment. Diagnostic tests can help determine if and where a lesion in the brain is causing seizures. . In the majority of cases, there may be no cause that can be discovered for epilepsy or in some cases there are actual causes.”
John Hopkins Medicine (https://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy)
Epilepsy
Most people with epilepsy are otherwise healthy; as long as it is controlled like most other diseases. A seizure is a physical manifestation of paroxysmal and abnormal electrical firing of neurons in the brain. Think of it as numerous voltage (hyperexcitability of neurons) going throughout the brain meaning brain waves going in all directions with the brain saying its too much activity causing the brain to go into a seizure.
When the seizure occurs there is a decrease in oxygen since the brain isn’t capable to send messages during the seizure. If the seizure continues to repeat one right after another the person is in status epilepticus and if the seizures doesn’t stop the person can lead to a neuronal death; like John Travolta’s son who died of this.
The term seizure disorder may refer to any number of conditions that result in such a paroxysmal electrical discharge. These conditons could be metabolic or structural in nature. Epilepsy is the term for those who have a second seizure that occurs spontaneously and without preceding metabolic or structural cause for the occurrence. Epilepsy is a chronic disorder that requires antiepileptic drug therapy; usually thorough out life.
Etiology of Epilepsy is generally a sign of underlying pathology involving the brain. It may be the first sign of nervous system disease (ex. Brain tumor), or it may be a sign of a systemic or metabolic derangement.
a.) Electrolyte Imbalance=acidosis, heavy metal poisoning, Hypocalcemia, Hypocapnea, Hypoglycemia, Hypoxia, Sodium-Potassium imbalance, Systemic diseases (liver, renal failure, etc…), Toxemia of pregnancy, and water intoxication.
b.) Infection=meningitis, encephalitis, brain abcess.
c.) Withdrawal of sedative-hypnotic drugs=Alcohol, Antiepileptic drugs, Barbiturates, Benzodiazepines.
d.) Iatrogenic drug overdose=Theopylline, Penicillin.
Other causes of epilepsy can be Trauma, Heredity.
Structural causes of epilepsy:
Head trauma/Degenerative Disease like Alzheimer’s or Creutfeldz-Jacob or Huntington’s Chorea or Multiple Sclerosis or Pick’s Disease. There is also tumors or genetic disease or Stroke or Infections or Febrile seizures.
Types of seizures
I-Partial seizures (seizures beginning local)
1-simple partial seizures-(the person is conscious and not impaired). With motor symptoms, autonomic symptoms and even psychic symptoms.
2.)-Complex partial seizures-(the person is with impairment of consciousness)
2-Generalized seizures-(bilaterally symmetrical and without local onset).
3.) Tonic clonic seizures – Grand Mal
3-a tonic-clonic seizure, previously known as a grand mal seizure, causes a loss of consciousness and violent muscle contractions. It’s the type of seizure most people picture when they think about seizures.
Diagnosis
The history of the person is the most valuable component of the workup of that individual with possible epilepsy.
The routine diagnostic tooling to see if someone has this disease is a EEG which is the major diagnostic test. EEG takes short samples of brain wave activity with 26 wires to the scalp recording amplified brain waves from the superficial regions of the brain by means of scalp electrodes.
Laboratory studies are done to rule out various causes for seizures. Routine blood and urine studies are often done for baseline information. Electrolytes and blood chemistries will be evaluated to identify possible metabolic causes for seizures.
Neuropsychological testing may be done in the evaluation of persons presenting with seizures. The purpose of neuropsychological testing is to determine if there is brain dysfunction and to determine if the pattern of change in brain function is indicative of a destructive lesion. Neuropsychological testing involves evaluation of cognitive functions and personality and emotional traits.
Medical Management
The major medical treatment for epilepsy is antiepileptic medications. Epileptic seizures can be controlled in 50 to 95% of cases with this form of treatment depending on seizure type and compliance of the individual taking their medications.
Those taking medications for epilepsy know if a single first line drug is not effective a second first lin drug is added but the noneffective drug is tapered off while the second first line drug is given. Know during this time frame there is a risk for seizure activity so practice safety (ex. do not drive).
In some cases there is surgery: those with intractable seizures is the epileptic focus may be possible. In some cases partial complex seizures are the common seizure treated by surgery. The focus of this seizure type has often been found in the anterior temporal and inferior frontal regions of the brain cortex.
There are other treatments as well.
Care during a Seizure what do we do and what is the major concerns for the individual seizing:
The care of a person in a seizure should focus primarily on maintaining a safe environment. The seizure that has greatest risk for causing injury and even fatality is the generalized tonic/clonic (grand mal), although there is a potential for injury with any seizure that involves alteration of consciousness.
The 2 major goals for care during a seizure are protection from injury and prevention of aspiration. The person’s head should be cradled if on the floor to prevent banging of the head. At no time should the person be restraint when having a seizure. The person should be turned to their side to allow the tongue to fall away from the airway and allow drainage of the excessive saliva that accumulates to drain out of the mouth during the seizure. You should stay with the person till the seizure stops and note the behavior mentally and physically the person exhibits while having the seizure and how long it lasts. Immediately call 911 (especially if this is the first seizure the person ever had) or call the neurologist of the individual to have the him or her be evaluated ASAP.
“While many eye problems happen in adulthood, a child’s vision— without screening by your doctor or eye care professional— is also vulnerable to eye disease. Knowing about childhood eye conditions and screen your child regularly to protect their vision is so vitally important.”
American Academy of Ophthalmology (Childhood Eye Diseases and Conditions – American Academy of Ophthalmology)
Children eye health and safety month
August Is Children’s Eye Health and Safety Month!
It’s almost back-to-school time and are you prepared with your child’s enrollment forms, orientation schedules, and immunizations–but what about their eyes?
August is Children’s Eye Health and Safety Month—a great signal for you to get your child’s eyes checked before school starts.
Let’s Talk Eye Safety:
Use this month to discuss the importance of eye safety with your children.
CDC states “Approximately 6.8% of children younger than 18 years in the United States have a diagnosed eye and vision condition. Nearly 3 percent of children younger than 18 years are blind or visually impaired, defined as having trouble seeing even when wearing glasses or contact lenses.”.
Children should:
One of the best ways to ensure your child keeps his/her good vision throughout life is to set a good health example.
Talk to your child’s pediatrician if you suspect your child has any of the eye diseases below:
-Amblyopia (lazy eye) – also known as lazy eye, is a vision development disorder in which an eye fails to achieve normal visual acuity, even with prescription eyeglasses or contact lenses. Amblyopia begins during infancy and early childhood. In most cases, only one eye is affected. However, a common cause of amblyopia is strabismus. So if you notice your baby or young child has crossed eyes or some other apparent eye misalignment, schedule an appointment for a children’s eye exam immediately — preferably with an optometrist or ophthalmologist who specializes in children’s vision.
Another clue that your child may have amblyopia is if he or she cries or fusses when you cover one eye.
You can try this simple screening test at home by simply covering and uncovering your child’s eyes (one eye at a time) when he or she is performing a visual task, such as watching television.
-Strabismus (crossed eyes) – Strabismus is a condition that interferes with binocular vision because it prevents a person from directing both eyes simultaneously towards the same fixation point; the eyes do not properly align with each other. Heterotropia is a medical synonym for the condition. Colloquial terms for strabismus include “cross-eye”, “wall-eye”, and a “cast of the eye”. Strabismus in children does not go away on its own and strabismus in adults is treatable, so strabismus treatment is necessary.
-Ptosis (drooping of the eyelid) – Ptosis” is the medical term for a drooping upper eyelid. Eyelid drooping can sometimes affect your vision if it’s severe. Ptosis isn’t a disease. It’s actually a symptom of a condition that you should seek treatment for. Many things can cause ptosis. Some causes being stroke, diabetic neuropathy, myasthenia gravis, muscular dystrophy, botulism, brain aneurysm, adult brain tumor, pituitary cancer, & necrotizing vaculitis. An eye doctor will diagnose ptosis by carefully examining the eyelids. He or she will take detailed measurements of the height of the eyelids and will assess the strength of the eyelid muscles.Surgery can be an effective treatment for ptosis in both children and adult, improving vision as well as cosmetic appearance. It is very important that children with ptosis have regular ophthalmic examinations early in life to monitor their vision and prevent severe vision loss from untreated amblyopia..
-Color deficiency (color blindness) – Two of the most common inherited forms of color blindness are protanopia and deuteranopia. Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency which is in about 8 percent and 0.5 percent of females of European (northern) ancestry. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception but do not affect the sharpness of vision (visual acuity).
A less common and more severe form of color vision deficiency called blue cone monochromacy causes very poor visual acuity and severely reduced color vision. Affected individuals have additional vision problems, which can include increased sensitivity to light (photophobia), involuntary back-and-forth eye movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is sometimes considered to be a form of achromatopsia, a disorder characterized by a partial or total lack of color vision with other vision problems
-Refractive errors (nearsightedness, farsightedness and astigmatism) – The most common types of refractive errors are myopia, hyperopia, presbyopia, and astigmatism. Myopia (nearsightedness) is a condition where objects up close appear clearly, while objects far away appear blurry. With myopia, light comes to focus in front of the retina instead of on the retina.
What are refractive errors?
Refractive errors occur when the shape of the eye prevents light from focusing directly on the retina. The length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens can cause refractive errors.
What is refraction?
Refraction is the bending of light as it passes through one object to another. Vision occurs when light rays are bent (refracted) as they pass through the cornea and the lens. The light is then focused on the retina. The retina converts the light-rays into messages that are sent through the optic nerve to the brain. The brain interprets these messages into the images we see.
Frequently Asked Questions about Refractive Errors
What are the different types of refractive errors?
The most common types of refractive errors are myopia, hyperopia, presbyopia, and astigmatism.
Myopia (nearsightedness) is a condition where objects up close appear clearly, while objects far away appear blurry. With myopia, light comes to focus in front of the retina instead of on the retina.
Hyperopia (farsightedness) is a common type of refractive error where distant objects may be seen more clearly than objects that are near. However, people experience hyperopia differently. Some people may not notice any problems with their vision, especially when they are young. For people with significant hyperopia, vision can be blurry for objects at any distance, near or far.
Astigmatism is a condition in which the eye does not focus light evenly onto the retina, the light-sensitive tissue at the back of the eye. This can cause images to appear blurry and stretched out.
Presbyopia is an age-related condition in which the ability to focus up close becomes more difficult. As the eye ages, the lens can no longer change shape enough to allow the eye to focus close objects clearly.
Who is at risk for refractive errors?
Presbyopia affects most adults over age 35. Other refractive errors can affect both children and adults. Individuals that have parents with certain refractive errors may be more likely to get one or more refractive errors.
Symptoms and Detection
What are the signs and symptoms of refractive errors?
Blurred vision is the most common symptom of refractive errors. Other symptoms may include:
