Tag Archives: awareness

5p- Syndrome

Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome (five p minus), also known as Cat Cry Syndrome or Cri du Chat Syndrome. 5p- Syndrome is characterized at birth by a high pitched cry, low birth weight, poor muscle tone, microcephaly, and potential medical complications. “5p-“ is a term used by geneticists to describe a portion of chromosome number five that is missing in these individuals.

Children born with this rare genetic defect will most likely require ongoing support from a team of parents, therapists, medical professionals, educational professionals and extended family members to help the child achieve his or her maximum potential.

Years ago, it was common to place children with 5p- Syndrome in institutions with other severely developmentally delayed individuals. During the early 1980’s research revealed that those raised in family settings with the benefit of early intervention programs made remarkable progress, far exceeding the expectations of doctors who first described the syndrome.

Most individuals who have 5p- Syndrome have difficulty with language. Some become able to use short sentences, while others express themselves with a few basic words, gestures or sign language.

Nearly all children with 5p- Syndrome have poor muscle tone when they are young. Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, reflux, asthma and significant cognitive delays. A small number of children are born with serious organ defects and other life threatening medical conditions, although most individuals with 5p- can anticipate a normal life expectancy.

Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction. With early and consistent educational interventions, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.

For additional information, please contact the 5p- Society at director@fivepminus.org or (888)970-0777.

Triple X Syndrome

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Triple X syndrome, also known as Trisomy X, 47,XXX aneuploidy, and Triplo-X, XXX Syndrome is a chromosomal abnormality that affects approximately 1 in every 1,000 females. A healthy female has two X chromosomes, one from her father and one from her mother. A female with triple-X syndrome has three X chromosomes.

According to the NIH (National Institutes of Health), USA, 5 to 10 girls with triple X syndrome are born in the USA each day.

A female with triple-X syndrome does not inherit it from her parents. The syndrome generally results from a mistake in the formation of the father’s sperm cell or the mother’s egg. In some cases triple-X syndrome may be the result of something that went wrong in the development of the embryo.

A girl with triple X syndrome may either have no symptoms, just mild ones, or more severe ones with developmental delays. Developmental delays may include learning disabilities, delayed development of speech and language skills, as well as motor skills. There may be behavioral and emotional difficulties. Approximately 10% of affected females have seizures or kidney abnormalities. Among those who do have symptoms, they will vary widely from person-to-person.

Triple X syndrome treatment varies and depends on which symptoms are present, and how severe they are.

Unlike the majority of other chromosomal conditions, there is usually no clear visual difference between a female with triple X syndrome and other females. Some females with triple X syndrome may be taller than average. Most individuals with the syndrome have normal sexual development and can conceive children. Infertility is possible in some cases, but it is rare.

Most medical professionals do not regard the condition as a disability.

What are the signs and symptoms of triple X syndrome?
A symptom is something the patient senses and describes, while a sign is something other people, such as the doctor notice. For example, drowsiness may be a symptom while dilated pupils may be a sign.

In all female cells, only one X chromosome is active at any time. Consequently, triple X syndrome generally does not cause unusual physical features or medical problems. In other words, in the majority of cases there are no signs or symptoms. If symptoms do occur, they may include:

Delayed language skill development
Delayed motor skill development, resulting in poor coordination, awkwardness, and/or clumsiness.
In very rare cases, infertility
Some may have menstrual irregularities
Some may experience an early onset of menstruation

If physical features are present they will be very mild:

Tall stature
Microcephaly (small head)
Epicanthal folds – a vertical fold of skin that comes down across the inner angle of the eye.
Increased width between the eyes

22q11.2 Deletion Syndrome

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Defining 22q11.2 Deletion Syndrome
22q deletion syndrome has been called by many names, reflecting the constellation of clinical manifestations that have been identified over time. More recently, molecular genetic research has revealed that all of the syndromes listed below have one common link … there is a small amount of genetic material missing, termed a microdeletion, on the long arm (referred to as the q arm) of chromosome 22. Many now simply refer to all of these syndromes as 22q11.2 deletion syndrome:

DiGeorge Syndrome (DGS)
Velocardiofacial Syndrome (VCFS)
Conotruncal Anomaly Face Syndrome
Autosomal Dominant Opitz G/BBB Syndrome
Cayler Cardiofacial Syndrome
Shprintzen Syndrome

The 22q11.2 deletion syndrome occurs in approximately 1 out of every 4,000 live births. In most cases, the 22q deletion occurs de novo (the patient is the first in the family to have this deletion). In approximately one in 10 families (10%) the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with 22q11.2 deletion syndrome should have a blood test to determine their chances of having other children with the syndrome.

Signs and Symptoms
There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues. The majority of 22q11.2 deletion syndrome patients have congenital heart defects, most often conotruncal abnormalities (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (VSD), vascular ring, and truncus arteriosus) and palatal defects, including submucosal cleft palate and velopharyngeal dysfunction (VPD). VPD (also referred to as velopharyngeal insufficiency, or VPI) is usually manifest as abnormal nasal air escape and hypernasal speech. Some of the other common problems associated with 22q11.2 deletion syndrome include:

Feeding difficulties, including nasal regurgitation of food and fluids, vomiting or “spitting up”, gastroesophageal reflux (GERD)
Hypocalcemia
Gastrointestinal problems, including constipation, and GERD
Immune system disorders, including recurrent ear infections (otitis) and sinusitis, respiratory infections, and autoimmune diseases
Kidney disorders – approximately 35 percent of these patients may have a missing or malformed kidney.
ENT problems, including laryngeal webs and external ear anomalies
Asymmetric crying facies
Cleft lip and palate
Orthopedic issues, such as scoliosis, club feet, cervical spine abnormalities, and extra fingers or toes
Inguinal, umbilical and diaphragmatic hernias
Growth problems, sometimes associated with growth hormone deficiency
Developmental delays, including both language and motor skills delays
Autism
Obsessive-compulsive disorder (OCD)

Angelman syndrome

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Understanding AS
Angelman syndrome (AS) is a neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy, autism or Prader-Willi syndrome. Due to these similarities, misdiagnosis is a prevalent problem.

Late or misdiagnosis may cause individuals to lose opportunities for early intervention programs, resources, personalized support and life-saving treatments.

That’s why it’s important to increase awareness and understanding of Angelman syndrome, a disorder that occurs in roughly 1 in 15,000 live births.

Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

The Angelman Syndrome Foundation website is the best place to keep abreast of current information regarding research, education, general information and therapies for Angelman syndrome. If you have any questions or would like additional information please email the ASF at info@angelman.org.

Diagnosis
50% of individuals with Angelman syndrome are originally misdiagnosed.

A blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene is functioning properly.

For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis.

Proper diagnosis is key to providing the best treatment to individuals with neurogenetic disorders – disorders that share similar symptoms including developmental delays, seizures, motor issues, and lack of cooing, babbling, or speech.

Symptoms of Angelman syndrome:

Developmental delays – vary from individual to individual
Seizures
A happy demeanor – frequent laughing, smiling and excitability
In infants 0-24 months:
- Lack of cooing or babbling
- Inability to support one’s head, pull oneself up to stand, and delayed motor skills
In young children:
- Lack of speech, although some develop the ability to speak a few words
- Delayed ability to walk, unstable gait or balance issues

Facts About Angelman Syndrome
Download the complete text and illustrations of Facts About Angelman Syndrome.
This document is also available in español.

Osteoporosis Awareness

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Osteoporosis Awareness 2014
General Facts

Osteoporosis is a disease of the bone that makes a person’s bones weak and more likely to break. Approximately 9 million Americans have osteoporosis and another 43 million have low bone density, placing them at increased risk.
This means that nearly 60% of adults age 50 and older are at risk of breaking a bone and should be concerned about bone health.
One in two women and up to one in four men will break a bone in their lifetime due to osteoporosis. For women, the incidence is greater than that of heart attack, stroke and breast cancer combined.
There is no cure for osteoporosis, but there are steps you can take to prevent, slow or stop its progress. Diet, exercise and a healthy lifestyle are keys to preventing and managing the disease.
NOF recommends five steps to improve bone health and prevent osteoporosis:
1. Get the calcium and vitamin D you need every day.
2. Do regular weight-bearing and muscle-strengthening exercises.
3. Don’t smoke and don’t drink too much alcohol.
4. Talk to your healthcare provider about your chance of getting osteoporosis and ask when you should have a bone density test.
5. Take an osteoporosis medication when it’s right for you.

About Osteoporosis
Osteoporosis is a disease of the bone.

Osteoporosis is often called a “silent disease” because you cannot feel your bones getting weaker.
You may not even know you have osteoporosis until after you break a bone.

Osteoporosis is serious, even deadly.

A woman’s risk of hip fracture is equal to her combined risk of breast, uterine and ovarian cancer.
A man is more likely to break a bone due to osteoporosis than he is to get prostate cancer.
24 percent of hip fracture patients age 50 and over die in the year following the fracture.
Six months after a hip fracture, only 15 percent of patients can walk across a room unaided.
Every year, of nearly 300,000 hip fracture patients, one-quarter end up in nursing homes and half never regain previous function

Osteoporosis is costly.

Osteoporosis-related bone breaks cost patients, their families and the healthcare system $19 billion annually.
By 2025, experts predict that osteoporosis will be responsible for three million fractures resulting in $25.3 billion in costs.

Osteoporosis is preventable.

About 85-90 percent of adult bone mass is acquired by age 18 in girls and 20 in boys.
Building strong bones during childhood and adolescence can help prevent osteoporosis later in life.
NOF recommends five steps to improve bone health and prevent osteoporosis:
1. Get the calcium and vitamin D you need every day.
2. Do regular weight-bearing and muscle-strengthening exercises.
3. Don’t smoke and don’t drink too much alcohol.
4. Talk to your healthcare provider about your chance of getting osteoporosis and ask when you should have a bone density test.
5. Take an osteoporosis medication when it’s right for you.

Osteoporosis is manageable.

Although there is no cure for osteoporosis, there are steps you can take to prevent, slow or stop its progress. Eating a healthy diet and exercising regularly can help slow or stop the loss of bone mass and help prevent fractures.
About half of osteoporosis-related repeat fractures can be prevented with appropriate treatment.
A bone density test is the best way to diagnose osteoporosis and determine a treatment plan. If your T-score is-2.5 or lower, indicating that you have osteoporosis, or if you have other significant risk factors for breaking a bone, talk to your healthcare provider about starting an osteoporosis treatment plan that includes taking an osteoporosis medicine.
In choosing an osteoporosis medication, be sure to discuss the risks and benefits of all treatment options with your healthcare provider to determine which treatment plan is best for you.
In order for your medicine to work, it’s important to exercise regularly an make sure you get the recommended amount of calcium and vitamin D every day from food and supplements.
Once you start taking an osteoporosis medicine, your bone density test by central DXA should be repeated at least every two years to monitor its effects. After starting a new osteoporosis medicine, many healthcare providers will repeat a bone density test after one year.