February 3, 2017

Down syndrome is a developmental genetic disorder disorder caused by an extra copy of chromosome 21. It is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability.

Our bodies are made up of millions of cells. In each cell there are 46 chromosomes. The DNA in our chromosomes determines how we develop. Down syndrome is caused when there is an extra chromosome. People with Down syndrome have 47 chromosomes in their cells instead of 46. They have an extra chromosome 21, which is why Down syndrome is also sometimes known as trisomy 21. The extra chromosome is associated with other conditions such as varying degrees of developmental delay and intellectual disability, characteristic facial features, and increased risk of certain health conditions. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby. The degree of these conditions varies greatly from child to child.

These children often suffer from various physical ailments, including:

  • Recurrent vomiting
  • Failure to thrive
  • Recurrent infections of the upper respiratory tract, including ear infections
  • Bed wetting
  • Constipation
  • Sleep disturbances
  • Hyperactivity
  • Autism and emotional and neurologic ailments

People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome usually develop this condition in their fifties or sixties.

Down syndrome, itself, does not have a cure. But, treatment is available for many of the symptoms and conditions that can accompany the diagnosis.

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

Trisomy 21 – About 95% of people with Down syndrome have Trisomy 21.With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.

Translocation Down syndrome – This type accounts for a small percentage of people with Down syndrome (about 3%).This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.

Mosaic Down syndrome – This type affects about 2% of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes

Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and an estimated 250,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older.

Genetic – Down syndrome is typically caused by what is called nondisjunction. Nondisjunction happens when a pair of chromosomes fails to separate during egg (or sperm) formation. When that egg unites with a normal sperm to form an embryo, the embryo ends up with three copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell as the baby develops. Interestingly, nondisjunction events seem to occur more frequently in older women. This may explain why the risk of having a baby with Down syndrome is greater among mothers age 35 and older.

Risk Factors

Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. All 3 types of Down syndrome are genetic conditions (relating to the genes), but only 1% of all cases of Down syndrome have a hereditary component (passed from parent to child through the genes). Heridity is not a factor in trisomy 21 (nondisjunction) and mosaicism. However, in one third of cases of Down syndrome resultuing from translocation there is a heriditary compontent – accounting for about 1% of all cases of Down syndrome. The risk factors include –

Advancing maternal age – A woman’s chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman’s risk of conceiving a child with Down syndrome is about 1 in 350. By age 40, the risk is about 1 in 100, and by age 45, the risk is about 1 in 30. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.

Having had one child with Down syndrome – Typically, a woman who has one child with Down syndrome has about a 1 in 100 chance of having another child with Down syndrome.

Being carriers of the genetic translocation for Down syndrome – Both men and women can pass the genetic translocation for Down syndrome on to their children.

Metal Toxicity – Since mercury and other toxic metals destroys DNA, it’s possible that they may increase the risk for Down syndrome in few cases.

Symptoms

Down syndrome can affect a child physically, cognitively, and behaviorally. Remember that every child with the condition is unique and may possess these characteristics to different degrees or not at all.

Physical

A child with Down syndrome will have some, but perhaps not all, of the following features –

  • Eyes that slant upward, from inner corner to outer corner
  • Small ears that may fold over slightly at the top
  • A smaller than average mouth, and larger appearing tongue
  • A smaller than average nose, with a flattened nasal bridge
  • Short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.
  • Some babies with Down syndrome have short necks and small hands with short fingers
  • One single crease that goes straight across the palm, and a second crease that curves down by the thumb, rather than having three creases in the palm of the hand
  • Shorter than average height
  • Low muscle tone (hypotonia) throughout the body and increased looseness or flexibility in the joints

Developmental, Cognitive, and Behavioral Symptoms

  • Most children with Down syndrome have delays in meeting developmental milestones. They typically learn to walk and talk at later times than children without Down syndrome.
  • Children with Down syndrome often have mild to moderate cognitive impairment and intellectual disability
  • Children with Down syndrome often have specific patterns of cognitive and behavioral features including –
    • Strengths in in social engagement and social behavior, visual learning, and word reading.
    • Challenges with attention span, verbal memory, and expressive communication.
  • Tailored and specialized educational programs and support enable children with Down syndrome to learn and grow at their own pace.
  • Behavioral problems such as stubborrness, impulsivity, and temper tantrums may be more common in children with Down syndrome
  • A child may use “self talk” (talking out loud to himself) as a way of understanding and processing information

Down syndrome is not a progressive condition. Therefore, symptoms do not get progressively worse over time. However, some of the complications associated with Down syndrome can occur at different stages in a child’s life.

Complications

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are –

  • Hearing loss (up to 75% of people with Down syndrome may be affected)
  • Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep (between 50 -75%)
  • Ear infections (between 50 -70%)
  • Eye diseases (up to 60%), like cataracts and eye issues requiring glasses
  • Heart defects present at birth (50%)

Other less common health problems among people with Down syndrome include –

  • Intestinal blockage at birth requiring surgery
  • Hip dislocation
  • Thyroid disease
  • Anemia (red blood cells can’t carry enough oxygen to the body) and iron deficiency (anemia where the red blood cells don’t have enough iron)
  • Leukemia in infancy or early childhood
  • Hirschsprung disease
  • Pulmonary hypertension, a condition that affects arteries in the heart and lungs, and which often resolves in the newborn period.
  • Atlantoaxial instability (cervical spine vertebrae may be more flexible causing a small but increased risk for spinal cord injury or compression).
  • Obesity/Overweight

Health care providers routinely monitor children with Down syndrome for these conditions. If they are diagnosed, treatment is available.

Treatment

There is no cure for Down syndrome. But physical therapy and/or speech therapy can help people with the disorder develop more normally. Screening for common medical problems associated with the disorder, followed by corrective surgery, can often improve quality of life. Moreover, enriched environments significantly increase children’s capacity to learn and lead meaningful lives.

When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. However, many infants with Down syndrome can successfully breast-feed.

If the person has any heart defects or other heart problems, antibiotics may need to be prescribed to prevent a heart infection called endocarditis.

Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.

Alternative & Complementary Treatment

Various traditional and alternative treatment methods for Down syndrome have been popular over the years including the use of pituitary extract, glutamic acid, thyroid hormone, 5-hydroxytryptophan, dimethyl sulfoxide (DMSO), dihydroepiandosterone, sicca cell therapy and growth hormone.

Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.

Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively.

Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person’s needs and abilities.

Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors. Children with Down syndrome may become frustrated because of difficulty communicating, may develop compulsive behaviors, and may have Attention Deficit Hyperactivity Disorder and other mental health issues. These types of therapists try to understand why a child is acting out, create ways and strategies for avoiding or preventing these situations from occurring, and teach better or more positive ways to respond to situations.

Vitamins – Deficiencies of vitamin A vitamin B12 and vitamin C in individuals with Down syndrome have been reported.

Minerals – A considerable number of studies have looked at the role of zinc in Down syndrome. Serum levels of zinc have been reported as below normal, as well as plasma levels and whole blood levels. One study, however, did not find a general deficiency.Whole blood levels and plasma levels of selenium have also been reported to be below normal in children and adults with Down syndrome.

Amino acids – Imbalances in amino acid levels have been claimed in adults with Down syndrome.

Probiotics – Probiotics Can Alleviate GI Problems Of Down’s Syndrome Patients.

Tryptophan, Serotonin, Melatonin – Down’s syndrome individuals frequently show low serum tryptophan levels. Whether this deficiency is primary (poor tryptophan absorption) or secondary (increased tryptophan catabolism) is not known. Regardless of the cause, low tryptophan levels impair protein synthesis (tryptophan is usually a rate-limiting amino acid) and decrease serotonin levels (tryptophan is the precursor to serotonin). Serotonin is the brain neurotransmitter that not only regulates emotional control and sleep quality, but helps influence carbohydrate feeding behavior. People with low serotonin levels tend to have carbohydrate cravings.

Glutamine and Arginine – One of the key ammonia-carrying molecules in the brain is glutamine, an amino acid which tends to accumulate in Down’s syndrome. Glutamine is made from glutamate (glutamic acid) by the addition of one ammonia molecule, and from alpha-ketoglutarate by the addition of two ammonia molecules. Due to the general overabundance of ammonia in Down’s syndrome, alpha-ketoglutarate is the ideal precursor to supplement the glutamate/glutamine pathways without increasing the ammonia burden.

Collagen – The collagen connection to Down’s syndrome is fairly obvious. Newborn infants and children exhibit extreme joint laxity. In addition, structural defects in the formation of the heart affect roughly half of all Down’s syndrome individuals. Of the dozen-plus collagen genes that have been discovered, two of them reside near the tip of the 21st chromosome.

 

Reference –

http://www.healthline.com/health/down-syndrome#Treatment7

http://www.downs-syndrome.org.uk/about-downs-syndrome/

http://www.superduperinc.com/handouts/pdf/116_Down_Syndrome.pdf

http://www.ndss.org/Global/Aging%20and%20Down%20Syndrome.pdf

https://umm.edu/health/medical/ency/articles/down-syndrome

http://www.childrenshospital.org/conditions-and-treatments/conditions/down-syndrome

https://www.worlddownsyndromeday.org/

http://learn.genetics.utah.edu/content/disorders/chromosomal/down/

https://www.genome.gov/19517824

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066992/

http://www.downs-syndrome.org.uk/about-downs-syndrome/

http://www.nhs.uk/Conditions/Downs-syndrome/Pages/Introduction.aspx

http://www.downsyndrome.org.au/what_is_down_syndrome.html

Posted in DEVELOPMENTAL
February 3, 2017

Craniosynostosis is a birth defect in which the bones in a baby’s skull join together too early. This happens before the baby’s brain is fully formed. It is a congenital deformity of the infant skull that occurs when the fibrous joints between the bones of the skull (called cranial sutures) close prematurely.

In an infant, the skull is not a solid piece of bone, but it is several boney plates separated by fibrous flexible material called sutures. These sutures allow the skull to expand as the brain grows, and will eventually fuse to form a solid skull. Around two years of age, a child’s skull bones begin to join together because the sutures become bone. When this occurs, the suture is said to “close.” In a baby with craniosynostosis, one or more of the sutures closes too early. This can limit or slow the growth of the baby’s brain. The remaining open sutures have to grow faster to make up for the closed suture. This extra growth causes a change in head shape. In some cases, the remaining open sutures can’t grow fast enough to keep up with the brain’s growth causing an abnormally high pressure in the skull, which can have negative effects on brain health. These include learning delays, blindness, and, rarely, death, if untreated. Craniosynostosis can either be –

  • Syndromic – the condition is one of a number of birth defects to affect a child
  • Nonsyndromic – the condition develops in isolation and the child has no other birth defects

Types of Craniosynotosis

There are several types of craniosynostosis. They have a typical appearance depending on which suture, or sutures, are involved, and are named both according to the head shape (words that end in –cephaly), and by which suture is abnormally fused.

  • Sagittal synostosis– The sagittal suture runs along the top of the head, from the baby’s soft spot near the front of the head to the back of the head. When this suture closes too early, the baby’s head will grow long and narrow (scaphocephaly). It is the most common type of craniosynostosis.
  • Coronal synostosis – The right and left coronal sutures run from each ear to the sagittal suture at the top of the head. When one of these sutures closes too early, the baby may have a flattened forehead on the side of the skull that closed early (anterior plagiocephaly). The baby’s eye socket on that side might also be raised up and his or her nose could be pulled toward that side. This is the second most common type of craniosynostosis.
    • Bicoronal synostosis – This type of craniosynostosis occurs when the coronal sutures on both sides of the baby’s head close too early. In this case, the baby’s head will grow broad and short (brachycephaly).
  • Lambdoid synostosis – The lambdoid suture runs along the backside of the head. If this suture closes too early, the baby’s head may be flattened on the back side (posterior plagiocephaly). This is one of the rarest types of craniosynostosis.
  • Metopic synostosis – The metopic suture runs from the baby’s nose to the sagittal suture at the top of the head. If this suture closes too early, the top of the baby’s head shape may look triangular, meaning narrow in the front and broad in the back (trigonocephaly). This is one of the rarest types of craniosynostosis.

Craniosynostosis is a rare condition. It is estimated that one in every 1,800 to 3,000 children is born with the condition. Three out of every four cases affect boys. Nonsyndromic craniosynostosis is the most common form of the condition, accounting for 80%-95% of all cases. The cause of nonsyndromic craniosynostosis is unknown. There are more than 150 different syndromes that can cause syndromic craniosynostosis, all of which are very rare. A syndrome describes a range of different symptoms that are all related to a common cause, which is usually (but not always) genetic.

Causes

The causes of craniosynostosis in most infants are unknown. Some babies have a craniosynostosis because of changes in their genes. In some cases, craniosynostosis occurs because of an abnormality in a single gene, which can cause a genetic syndrome. However, in most cases, craniosynostosis is thought to be caused by a combination of genes and other factors, such as things the mother comes in contact with in her environment, or what the mother eats or drinks, or certain medications she uses during pregnancy.

Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present. It is important for the child as well as family members to be examined carefully for signs of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.

Risk Factors

Maternal thyroid disease ― Women with thyroid disease or who are treated for thyroid disease while they are pregnant have a higher chance of having an infant with craniosynostosis, compared to women who don’t have thyroid disease.

Certain medications ― Women who report using clomiphene citrate (a fertility medication) just before or early in pregnancy are more likely to have a baby with craniosynostosis, compared to women who didn’t take this medicine.

Smoking – Studies have found that maternal smoking is associated with an increased risk of infant craniosynostosis. One study found this association only for heavy smokers who continued smoking after the first trimester and had delayed or no folic acid supplement use.

Drugs and Medication – Studies of maternal alcohol consumption have had mixed results. One study found no relationship between maternal alcohol consumption and craniosynostosis risk. There may be a connection between nitrosatable drugs (chlordiazepoxide, nitrofurantoin, and chlorpheniramine) and increased risk of craniosynostosis.

Maternal Health – Mothers who are overweight may be at an increased risk for delivering a child with isolated craniosynostosis, but another study failed to confirm this finding. Although maternal pre-gestational diabetes mellitus has not been found to be a risk factor for craniosynostosis, gestational diabetes mellitus may confer an increased risk for having a child with craniosynostosis and multiple additional defects. Maternal thyroid disease has been reported as a risk factor for craniosynostosis.

Fertility Treatments – Some evidence exists for a link between specific fertility treatments and greater risk of craniosynostosis. Clomiphene citrate, a drug used for ovulation stimulation, was associated with an increased craniosynostosis risk.

Vitamins and dietary nutrients have been studied for their associations with craniosynostosis risk. In one study, higher maternal intake of riboflavin, vitamin B6, vitamin E, and vitamin C before and during pregnancy was associated with a decreased risk for sagittal synostosis, and higher intake of methionine and vitamin C was associated with a decreased risk for coronal synostosis.

Parental Occupation – Occupation of the father in the agriculture and forestry or mechanics and repairman fields has been suggested as a risk factor for craniosynostosis.

Infant Sex – Most studies have reported higher craniosynostosis rates or ratios among male infants, particularly for sagittal and metopic synostosis. Coronal craniosynostosis seems to be more common in female infants.

Parental Age – Craniosynostosis risk appears to increase with increasing maternal age; however, some studies did not find a significant relationship between maternal age and craniosynostosis risk. The relationship between father’s age and craniosynostosis risk is less clear. One study identified older age of the father as a risk factor.

Signs & Symptoms

In infants with this condition, the most common signs are changes in the shape of the head and face. The appearance of the child’s face may not be the same when compared to the other side. Signs and symptoms of Craniosynostosis include the following –

  • Sagittal synostosis – This is when the head grows long but its width is restricted due to the sagittal suture (top of the head) fusing too early. It is the most widespread type of craniosynostosis and mostly occurs in boys.
  • Coronal craniosynostosis – This is due to early fusion of one or both of the sutures connecting the top of the head to the ears (coronal sutures). It results in the baby having a flat forehead and possibly a higher eye socket on the affected side. If both sutures fuse, both sides of the face are affected, this is known as Biconal synostosis. This kind of craniosynostosis occurs mostly in girls and is the second most common of the types.
  • Metopic synostosis – This is a much rarer form of craniosynostosis. This time the suture that fuses is located between the sagittal suture and the nose. Babies with this form develop a triangular scalp.
  • Lambdoid synostosis – This is when the suture that runs across the back of the head (lamdoid suture) fuses causing flatness in this area. Of all forms of craniosynostosis, this is the most rare.

General Symptoms include –

  • A full or bulging fontanelle (soft spot located on the top of the head)
  • Sleepiness (or less alert than usual)
  • Scalp veins may be very noticeable
  • Increased irritability
  • High-pitched cry
  • Poor feeding
  • Projectile vomiting
  • Increasing head circumference
  • Seizures
  • Bulging eyes and an inability of the child to look upward with the head facing forward
  • Developmental delays

Treatment

The primary treatment method of craniosynostosis is surgery, which is best done within the first year of the child’s life. The main goal of the surgery is to let the cranial vault develop normally. If surgery is not performed the condition can get worse and the skull deformity increase. There are two common types of surgery for craniosynostosis –

  • Traditional surgery, also called calvarial vault remodeling – Among the surgical options available, the more traditional surgery we offer is when the baby is older. During surgery, an incision is made in the infant’s scalp. The shape of the head is corrected by moving the area that is abnormally fused or prematurely fused and then reshaping the skull so it can take more of a round contour. Surgery can last up to eight hours. The baby will likely spend one night in the ICU plus an additional 3-5 days in the hospital for monitoring.

 

  • Minimally invasive endoscopic surger – This minimally invasive surgery is one that we perform when the baby is much younger (less than 3 months old).This type of surgery is followed by the use of a molding helmet. After the surgery is performed, we then prescribe the molding helmet. You can expect to follow up with your neurosurgeon every 3 months for the first year post-surgery to check progress of the helmet reshaping the skull.

Risks for any surgery are –

  • Breathing problems
  • Infection, including in the lungs and urinary tract
  • Blood loss (children having an open repair may need a transfusion)
  • Reactions to medicines

Possible risks of having this surgery are –

  • Infection in the brain
  • Bones connect together again, and more surgery is needed
  • Brain swelling
  • Damage to brain tissue

Reference –

http://www.craniokids.org/

https://www.childrens.com/specialties-services/specialty-centers-and-programs/plastic-craniofacial-surgery/programs-and-services/craniofacial-program/conditions-and-treatments/craniosynostosis

http://www.hse.ie/eng/health/az/C/Craniosynostosis/

https://www.cappskids.org/

http://www.sickkids.ca/Craniofacial/What-we-do/Craniofacial-Conditions/Craniosynostosis/

http://www.chw.org/medical-care/neuroscience/conditions/craniosynostosis/

http://www.gosh.nhs.uk/medical-information/search-medical-conditions/craniosynostosis

http://www.seattlechildrens.org/medical-conditions/bone-joint-muscle-conditions/craniosynostosis-treatment/

http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm

http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/pediatric_neurosurgery/conditions/craniosynostosis/

http://emedicine.medscape.com/article/1175957-overview

http://www.nhs.uk/conditions/craniosynostosis/Pages/Introduction.aspx

http://www.mayoclinic.org/diseases-conditions/craniosynostosis/basics/definition/con-20032917

Posted in DEVELOPMENTAL
February 3, 2017

Treatment of Autism, Asperger’s Syndrome, PDD, ADHD, and ADD

At the Center for Occupational and Environmental Medicine, we believe that it is inadequate to simply give children drugs for developmental disorders without evaluating and correcting underlying problems. In addition, we understand that parents are overwhelmed with the sheer volume of new research about developmental disorders, which often yields a great variety of conflicting treatment options. Parents want knowledgeable, experienced medical help putting together an effective, safe treatment program to best care for their children.

The Center’s Medical Director, Dr. Allan D. Lieberman, M.D., was board certified in Pediatrics in 1966 and sub-specialized in the academically underachieving child. He has developed a comprehensive approach to the spectrum of developmental disorders. As specialists in Environmental Medicine, he draws on their knowledge of Allergy (both food and inhalant), Immunology, Toxicology, and Nutrition to evaluate and address causes behind developmental disorders. The Center also uses the Defeat Autism Now protocols as Dr. Lieberman is recognized as a Defeat Autism Now provider.

For each new patient at The Center, including our pediatric patients, we perform a Comprehensive Diagnostic Work-up.

In the case of developmental disorders, The Center’s diagnostic work-up often includes specialized laboratory testing, depending upon a child’s history:

1)   Allergy testing can be performed to determine food triggers and inhalant allergy.

2)   Allergy desensitization for foods, inhalants, and chemicals can be provided to help reduce the Total Body Stress Load.

3)   Structured food elimination diets can be provided to yield vital information about gastrointestinal function and food intolerance.

4)   Urine tests for abnormal peptides from wheat or dairy can reveal if a gluten-free, casein-free diet would be well worth the effort to implement for a child.

5)   Hair analysis of toxic metals and essential minerals can provide evidence of toxicity or deficiency, and provide clues for the safest forms of detoxification or supplementation.

6)   Hidden sources of toxic pollutants are discussed, so parents know how to effectively address this area of concern.

7)   Neuropeptide levels, the biomarkers of brain chemistry and function, can be tested to uncover specific imbalances that are treatable through individualized amino acid programs or other supplements.

8)   Organic acid analysis (via urine specimen) can be performed to look for the metabolites of yeast and some bacteria species. This laboratory test is a valid and effective means to detect the presence of these pathogenic organisms.

In the words of Dr. Lieberman,

“When these children are tested, it is truly amazing what a heavy body burden of toxic metals (e.g. lead, mercury, arsenic, cadmium, and nickel), as well as industrial solvents and other toxic chemical pollutants, that are found. Rarely do we see a child who does not have significant reactions to food, inhalant airborne allergens, and ambient chemical exposures. And rarely do these children escape respiratory infection with multiple courses of antibiotic use, which results in heavy body burdens of yeast organisms in their gastrointestinal tracts. Lastly, there is also evidence that live virus vaccines, specifically the MMR, may be responsible for many cases of Autism and developmental disorders.”

“What do all these things have in common that they can cause such blatant effects in this population of children? The answer is they are altering brain chemistry and function. Some are clearly neurotoxic, and others alter brain function indirectly by affecting the gastrointestinal tract and causing a leaky gut phenomenon or by producing substances capable of causing nervous system dysfunction.”

The Center is committed to helping parents with the important detective work of what is impacting their children’s biochemistry and how to maximize and normalize brain function. Fortunately, we have the scientific tools and expertise to shorten this otherwise lengthy detective process and provide appropriate treatment to restore balance.

Our goal in working with children can be summed up by the words of Dr. Montanari of Hialeah, Florida, who ran a residential school for exceptional children. He said, “You have to reach them to teach them.” Unlocking the mysteries behind altered brain function and providing comprehensive treatment helps us to reach them, so parents and teachers can teach them.

Please also see Heavy Metal Toxicity and Yeast Eradication to better understand the role of heavy metals and yeast in creating health problems, including alterations in brain chemistry.

Posted in DEVELOPMENTAL
February 3, 2017

Childhood disintegrative disorder (CDD), or Heller’s syndrome, is a rare condition characterized by late onset, usually at three years of age onward. It typically features developmental delays in language, social function, and motor skills. Researchers have not been successful in finding a cause for the disorder.

CDD is among the 5 major types of autistic disorders and is sometimes referred to as Dementia Infantilis or Disintegrative Psychosis. Childhood Disintegrative Disorder is rare. It occurs approximately in 1 out of 1,00,000 children, however it is 4 times more prevalent in boys than in girls. Presently, it is believed that CDD may have been over-diagnosed in girls who actually had Rett’s Syndrome as opposed to CDD.

CDD is a form of autism that many believe may actually start while a child is in the womb. Regression can be very sudden and can happen anywhere from 2-10 years of age. Some children begin regressing before the symptoms become obvious to the parents while others showcase the symptoms in a way that educators and parents recognize the problem right away. Children can lose their fine and gross motor skills, control of bladder and bowel, social skills and self-care skills.

A disorder like Heller’s Syndrome can be very devastating for parents as the symptoms are very sudden and unexpected. Children often do not understand what is happening to them and are very alarmed at their condition . Children with Heller’s Syndrome must undergo therapy and may require expensive prescription drugs. Many parents must make financial sacrifices in order to care for their child and to ensure he or she receives the care needed.

Causes

There’s no known cause of childhood disintegrative disorder. There’s likely a genetic basis for autism spectrum disorders. The theory is that an abnormal gene is switched on in the early stages of development, before birth, and that this gene affects other genes that coordinate a child’s brain development. Environmental exposures, such as to a toxin or infection, may contribute to these effects.

Infections – It’s also possible that an autoimmune response may play a role in the development of childhood disintegrative disorder. In an autoimmune response, your body’s immune system perceives normal body components as foreign and attacks them.

Childhood disintegrative disorder often occurs along with other conditions, including:

  • Tuberous sclerosis – In this condition, noncancerous (benign) tumors grow in the brain.
  • Lipid storage diseases – In this rare group of inherited metabolic disorders, a toxic buildup of excess fats (lipids) occurs in the brain and nervous system.
  • Subacute sclerosing panencephalitis – This chronic infection of the brain is caused by a form of the measles virus that results in brain inflammation and the death of nerve cells.

Environmental Factors- Environmental factors have been implicated, although there is little conclusive evidence –

  • Toxins like lead, antimony and mercury have been found in high levels in the hair and blood samples of affected children. It may be that ASD children are unable to detoxify as efficiently as other children.
  • This hypothesis is similar to the premise behind the gluten- and casein-free diet. Peptides produced by gluten and casein act as morphine-like substances to ASD children and exaggerate their behaviours. Currently, however, there is insufficient evidence for improved behaviour with the exclusion diet.

Dietary intervention – There are indications that certain vitamins and mineral supplements may improve functioning in autistic people. While there is some disagreement regarding this amongst medical professionals, many parents have reported marked improvements after a program of nutritional supplements. There are also a number of clinical studies which strongly support the use of vitamin and mineral supplementation in the treatment of autism and have demonstrated significant improvement.

As nutrition is such a vital ingredient in brain development, it stands to reason that supplementation may have a positive benefit, although this would vary from individual to individual. Some experts have gone as far as to suggest that certain cases of autism could be as a result of nutritional deficiencies or mal absorption of nutrients from the diet. The subject is a very complex one and outside the scope of this discussion.

It’s unknown whether these conditions play a part in triggering childhood disintegrative disorder or share genetic or environmental risk factors.

Symptoms

Although included under the umbrella of autism spectrum disorders, childhood disintegrative disorder symptoms can appear and develop later than other autistic disorders. Children with disintegrative disorder may develop normally till about 2 years old and then show a sudden and/or extreme loss of previously acquired skills in at least 2 of the following areas (please refer to our article on does my child have autism.

  • Social Skills – Regression in the ability to relate and interact with others.
  • Play Skills – Loss of interest in games and imagination
  • Language – Severe decline in the ability to hold a conversation and sometimes even speak
  • Motor Skills – Severe and dramatic decline/regression in fine motor skills and walking. May also exhibit Tourette’s Syndrome Symptoms
  • Bowel & Bladder Control – Regression in potty training, frequent bowel and bladder incidents.

The loss of these skills may occasionally appear over time, however they tend to occur rapidly over a six to nine months time span. With the loss of gained skills, CDD then begins to resemble many of the different forms of autism. The key difference however is that skills lost will perhaps can be regained (even with intensive therapy).

Signs for Parents

Lack or loss of normal function – This lack or loss occurs in at least two of the following areas –

 

Social interaction – This may include a wide range of problems with social connectedness. Your child may have difficulty with nonverbal interactions, may not make friends with peers, and may lack the ability to share, recognize, understand and respond to others’ social cues and feelings.

Communication – This may include a delay or loss in the ability to speak or to start and maintain conversations. Your child also may use the same words over and over, and may not “get” imaginative or make-believe play.

Repetitive and stereotyped patterns of behavior, interests and activities – Your child may flap his or her hands, rock or spin (motor stereotypes and mannerisms); may become attached to specific routines and rituals; or may have difficulty with transitions or changes in routine. Many children with the disorder develop a fixed posture or body position (catatonia) and may become preoccupied with certain objects or activities.

Complications

Over 90% of children with CDD lose their self-help skills such as –

 

  • Feeding themselves
  • Washing
  • Learning new words, un-learning previously used words
  • Brushing teeth
  • Toilet usage
  • Alternate forms of communication such as sign language, expression, etc

Treatment

Medications – There are no medications that directly treat childhood disintegrative disorder. However, severe behavior problems, such as aggression and repetitive movements, may sometimes be controlled by medications for anxiety or depression, or antipsychotic medications. Anticonvulsant drugs may help control epileptic seizures.

Behavior therapy – This therapy technique may be used by psychologists, speech therapists, physical therapists and occupational therapists as well as parents, teachers and caregivers. Behavior therapy programs may be designed to help your child learn or relearn language, social and self-care skills. These programs use a system of rewards to reinforce desirable behaviors and discourage problem behavior. A consistent approach among all health care team members, caregivers and teachers is important in behavior therapy.

Developmental, Individual Difference, Relationship based (DIR) – This type of therapy is carried out in natural settings such as home and pre-school. It aims at improvements in communication skills, thinking and social skills.

Interpersonal Synchrony – It focuses on social development and imitation skills and teaches children how to establish and maintain engagement with others.

For Parents

Learn about the disorder – There’s limited information about the cause of childhood disintegrative disorder. However, learning about treatment options will give you the knowledge to be an advocate for your child.

Find a team of trusted professionals – You’ll find it helpful to have a knowledgeable team of doctors, therapists and teachers to guide you as you make decisions related to your child’s care. They can help you keep abreast of new medications and therapies so that you can give your child the best available treatments.

Seek support from other families – Other families who have children with autism spectrum disorders may be a source of emotional support and provide encouragement and helpful suggestions. Support groups are available in many communities for parents and families with children who have autism spectrum disorders.

Take time for yourself and other family members – Caring for a child with child disintegrative disorder can be a full-time job that places stress on your marriage and family life. It’s important to take care of yourself and spend time with your spouse or significant other, as well as other family members. Schedule time to participate in family activities, enjoy a favorite hobby, exercise or just relax. It may also be beneficial to seek respite care on a regular basis in order to prevent caregiver burnout.

Complementary & Alternative Treatment

Alternative and Complementary therapies for disorders on the autism spectrum may include special diets, vitamin and mineral supplements, art therapy, music therapy, and sensory integration, a therapy technique used by occupational therapists to help children adapt to normal sensory experiences in the environment.

Creative Therapies – Some parents of CDD children choose to go for art therapy which includes art or music therapy, which aims at reducing child’s sensitivity towards touch or sound.

Yoga Therapies – Yoga is a mind-body approach which helps to control anxiety in CDD patients.

Chelation Therapy– This type of treatment is used to remove mercury and other heavy metals from the body.

Acupuncture– This therapy is used as a tool to improve CDD symptoms.

Nutritional Treatment

Melatonin – Melatonin is a naturally occurring hormone that regulates the sleep-wake cycle in CDD children, as they suffer from sleeping problems.

Omega-3 Fatty Acids – Fatty acids are very important in the development and function of the brain. Several studies have proven that omega3 fatty acids reduce the symptoms of CDD.

Nutritional Supplements- Studies show that children with CDD tend to be deficient in various nutrients. Multi vitamin supplements are highly suggested.

Gluten-free, Casein-free and Soy-free diet

Probiotic Intake – It helps in improving the gastrointestinal issues that CDD children suffer from.

How we Diagnose CDD

At our center, we perform a comprehensive diagnostic workup, which helps us to study the entire history of the child. This includes the following:

  • Allergy Testing- to determine food triggers and inhalant allergy.
  • Structured food elimination diet- to yield vital information about gastrointestinal functioned food tolerance
  • Urine Tests- to determine abnormal peptides from wheat or dairy products to see if gluten-free or casein-free diet should be implemented for the child.
  • Hair Analysis- to examine toxic metal and essential minerals for its toxicity or deficiency and suggests us the safest forms of detoxification or supplementation.
  • Hidden sources of toxic pollutants are examined
  • Neuropeptide Levels, the biomarkers of brain chemistry and function are tested to uncover certain imbalances that can be treated with individualized amino acid programs.
  • Organic Acid Analysis –to determine the metabolites of yeast and some bacteria species.

With the above way of treatment, we have successfully unlocked the mysteries behind altered brain function and resulted in providing comprehensive treatment that helps us to reach out to these children and help them to reach out to the world…

 

Reference –

http://effexorautismattorney.com/effexor-heller%E2%80%99s-syndrome-attorney

http://www.oxfordreference.com/view/10.1093/oi/authority.20110803095929448

http://childstudycenter.yale.edu/autism/information/cdd.aspx

https://www.dealwithautism.com/childhood-disintegrative-disorder/

http://www.autism-help.org/childhood-disintegrative-disorder.htm

https://www.specialeducationalneeds.co.uk/hellers-syndrome.html

http://emedicine.medscape.com/article/916515-overview

http://www.minddisorders.com/Br-Del/Childhood-disintegrative-disorder.html

http://www.rightdiagnosis.com/medical/heller_s_syndrome.htm

http://patient.info/doctor/childhood-disintegrative-disorder-hellers-syndrome

http://www.ptonthenet.com/articles/Costochondritis-Tietzes-Syndrome-1173

Posted in DEVELOPMENTAL
February 3, 2017

Aphasia is a language disorder that results from damage to portions of the brain that are responsible for language. For most people, these are parts of the left side (hemisphere) of the brain. Aphasia usually occurs suddenly, often as the result of a stroke or head injury, but it may also develop slowly, as in the case of a brain tumor. The disorder impairs both the expression and understanding of language as well as reading and writing. Aphasia may co-occur with speech disorders such as dysarthria or apraxia of speech, which also result from brain damage.

Primary signs of the disorder include difficulty in expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing. Aphasia is not a disease, but a symptom of brain damage. Most commonly seen in adults who have suffered a stroke, aphasia can also result from a brain tumor, infection, head injury, or dementia that damages the brainThe type and severity of language dysfunction depends on the precise location and extent of the damaged brain tissue.

Type of Aphasia –

  • Global aphasia — People with this aphasia may be completely unable to speak, name objects, repeat phrases or follow commands.
  • Broca’s aphasia — The person knows what they want to say, but can’t find the right words (can’t get the words out).
  • Wernicke’s aphasia — A person with this aphasia can seldom understand what’s being said or control what they’re saying

Anyone can acquire aphasia, but most people who have aphasia are in their middle to late years. Men and women are equally affected. It is estimated that approximately 80,000 individuals acquire aphasia each year. About one million persons in the United States currently have aphasia.

A stroke that affects the left side of the brain may lead to aphasia, a language impairment that makes it difficult to use language in those ways. Aphasia can have tragic consequences.

Aphasia can be so severe as to make communication with the patient almost impossible, or it can be very mild. It may affect mainly a single aspect of language use, such as the ability to retrieve the names of objects, or the ability to put words together into sentences, or the ability to read. More commonly, however, multiple aspects of communication are impaired, while some channels remain accessible for a limited exchange of information.

Causes

Aphasia can develop after an individual sustains a brain injury from a stroke, head trauma, tumor, or infection, such as herpes encephalitis. As a result of this injury, the pathways for language comprehension or production are disrupted or destroyed. For most people, this means damage to the left hemisphere of the brain. (In 95 to 99% of right-handed people, language centers are in the left hemisphere, and up to 70% of left-handed people also have left-hemisphere language dominance.) According to the traditional classification scheme, each form of aphasia is caused by damage to a different part of the left hemisphere of the brain. This damage affects one or more of the basic language functions: speech, naming (the ability to identify an object, color, or other item with an appropriate word or term), repetition (the ability to repeat words, phrases, and sentences), hearing comprehension (the ability to understand spoken language), reading (the ability to understand written words and their meaning), and writing (the ability to communicate and record events with text)

  • Stroke – during a stroke the brain is deprived of blood and oxygen, which leads to the death of brain tissue
  • Severe head injury – for example, an injury as a result of a road traffic accident or following a serious fall from height
  • Brain tumour – where an abnormal growth of cells develops inside the brain
  • Health conditions that cause progressive loss of cells from the brain, such as dementia. Parkinson’s disease does not cause aphasia, but some very similar conditions may do so, such as progressive supranuclear palsy (PSP) or corticobasal degeneration (CBD)
  • Infections that affect the brain, such as meningitis (an infection of the outer layer of the brain) and encephalitis (an infection of the brain itself), although this is a much rarer cause of aphasia

Symptoms

The main symptoms of aphasia include:

  • Trouble speaking
  • Struggling with finding the appropriate term or word
  • Using strange or inappropriate words in conversation

Some people with aphasia have problems understanding what others are saying. The problems occur particularly when the person is tired or in a crowded or loud environment. Aphasia does not affect thinking skills. But the person may have problems understanding written material and difficulties with handwriting. Some people have trouble using numbers or even doing simple calculations.

Treatment

Initially, the underlying cause of aphasia must be treated or stabilized. To regain language function, therapy must begin as soon as possible following the injury. Although there are no medical or surgical procedures currently available to treat this condition, aphasia resulting from stroke or head injury may improve through the use of speech therapy. For most individuals, however, the primary emphasis is placed on making the most of retained language abilities and learning to use other means of communication to compensate for lost language abilities.

Speech Therapy

Speech therapy is tailored to meet individual needs, but activities and tools that are frequently used include the following –

Exercise and practice – Weakened muscles are exercised by repetitively speaking certain words or making facial expressions, such as smiling.

Picture cards – Pictures of everyday objects are used to improve word recall and increase vocabulary. The names of the objects may also be repetitively spoken aloud as part of an exercise and practice routine.

Picture boards – Pictures of everyday objects and activities are placed together, and the individual points to certain pictures to convey ideas and communicate with others.

Workbooks – Reading and writing exercises are used to sharpen word recall and regain reading and writing abilities. Hearing comprehension is also redeveloped using these exercises.

Computer – Computer software can be used to improve speech, reading, recall, and hearing comprehension by, for example, displaying pictures and having the individual find the right word.

Medication – Certain drugs are currently being studied for the treatment of aphasia. These include drugs that may improve blood flow to the brain, enhance the brain’s recovery ability or help replace depleted chemicals in the brain (neurotransmitters). Several medications, such as memantine (Namenda) and piracetam, have shown promise in small studies.

Alternative Treatment

Reference –

http://www2.academyofaphasia.org/clinical-services/

http://www.strokeassociation.org/STROKEORG/LifeAfterStroke/RegainingIndependence/PhysicalChallenges/Complementary-Alternative-Therapies_UCM_310465_Article.jsp#.VnBFevl97IU

http://www.strokeassociation.org/STROKEORG/LifeAfterStroke/RegainingIndependence/CommunicationChallenges/Types-of-Aphasia_UCM_310096_Article.jsp#

http://brain.northwestern.edu/dementia/ppa/

http://www.aphasia.org/wp-content/uploads/2014/12/Aphasia-Definitions.pdf

Posted in DEVELOPMENTAL
February 3, 2017

Angelman syndrome is a genetic disorder that affects the nervous system and causes severe physical and intellectual disability. It is a severe neurological disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech. The seizure disorder in individuals with Angelman Syndrome can be difficult to treat. Feeding disorders in infancy are common, and some persist throughout childhood. Sleeping difficulties are commonly noted in individuals with Angelman Syndrome. AS affects all races and both genders equally.

Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.

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 may be described as “coarse.” Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.

Causes

For the majority of people with AS, the cause is a deletion in chromosome 15.  This is true for about 70% of those diagnosed with AS.  Another five to seven percent have a mutation of the chromosomal region in UBE3A.  Two to three percent have no deletion or mutation, but the person is still missing the active UBE3A gene.  Some have unusual chromosomal rearrangements and for the rest (about 15%), the cause is still unknown.

Symptoms

Angelman syndrome is difficult to detect at birth. Between the ages of 6 and 12 months, developmental delays may become apparent. All individuals with Angelman syndrome have difficulty with speech and movement. Most have abnormal brain activity, seizures, and microcephaly (the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing).

Characteristic symptoms of Angelman syndrome that are usually present include:

  • Delayed motor development, such as delay in sitting, crawling and walking
  • Speech problems
  • Jerky, puppet-type movements
  • Stiff-legged walking style
  • Hand flapping
  • Hyperactive behaviour
  • Loving, happy and social demeanour
  • A child easily moved to laughter
  • Intellectual disability – a child with Angelman syndrome will have delayed development in all areas and disability is severe in most cases.

Characteristic symptoms of Angelman syndrome that are sometimes present include –

  • Small head
  • Characteristic EEG (brainwave) abnormalities
  • Epilepsy (occurs in 80 per cent of cases).

Complications

Complications associated with Angelman syndrome include –

  • Feeding difficulties – An inability to coordinate sucking and swallowing may cause feeding problems during the infant’s early months. Your pediatrician may recommend a high-calorie formula to help your baby gain weight.
  • Hyperactivity – Moving quickly from one activity to another, short attention span, and keeping hands or a toy in their mouths may characterize children with Angelman syndrome. Hyperactivity often decreases with age, and medication usually isn’t necessary.
  • Sleep disorders – People with Angelman syndrome often have abnormal sleep-wake patterns and need less sleep than normal. In some cases, sleep difficulties may improve with age. Medication and behavior therapy may help control sleep disorders.
  • Curving of the spine (scoliosis) – Some people with Angelman syndrome develop an abnormal side-to-side spinal curvature over time.
  • Obesity – Older children with Angelman syndrome tend to have large appetites, which may lead to obesity.

Treatment

  • Anti-seizure medication to control seizures
  • Physical therapy to help with walking and movement problems
  • Communication therapy, which may include sign language and picture communication
  • Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development

Alternative treatment

Speech-language therapy – Individuals with Angelman syndrome may benefit from speech-language therapy. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom to overcome speech and language problems. Programs are tailored to the patient’s individual needs. On average, patients receive five or more hours of therapy per week for three months to several years. Speech pathologists use a variety of exercises to improve the patient’s communication skills, with a focus on nonverbal communication for patients with Angelman syndrome.

Occupational therapy – Patients with moderate-to-severe intellectual disabilities may benefit from occupational therapy. During sessions, a therapist helps the child learn skills to help him or her perform basic daily tasks, such as feeding, dressing, and communicating with others.

Ketogenic diet – A ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet used to treat some forms of epilepsy in children. The diet mimics aspects of starvation by forcing the body to burn fat rather than carbohydrate stores. Normally, the carbohydrates in food are converted into glucose, which is then transported around the body and is particularly important in fueling the brain.

Posted in DEVELOPMENTAL