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National Congenital Cytomegalovirus Awareness Month

Cytomegalovirus (CMV) is a common virus that infects people of all ages and is usually harmless to people with a healthy immune system. Most people have been exposed to CMV at some point in their lifetime without realizing it. It is estimated that 50-80% of adults in the United States have been infected with CMV by the time they reach 40 years old. Most infections with CMV are “silent” or asymptomatic, meaning most people who are infected with CMV have no signs or symptoms. Once CMV is in a person’s body, it stays there for life. no signs or symptoms occurs when a pregnant woman is exposed to CMV and the CMV passes from the pregnant woman to her unborn child, causing birth defects and developmental disabilities.

Acquired CMV infection is when a person is infected with CMV after birth, during childhood or adulthood.

Acquired CMV
Most healthy people with an acquired CMV infection will generally have few, if any, symptoms or complications from the infection. Because infections among healthy persons are common and typically asymptomatic, efforts to prevent transmission among healthy children and adults are not necessary.

At-Risk Populations
CMV can cause serious problems for people with weakened immune systems (immunocompromised) due to organ transplants, HIV/AIDS infection, chemotherapy, and medications such as glucocorticoids, cytostatics, antibodies, drugs acting on immunophilins, as well as other drugs.

In children and adults with organ transplants, CMV infections are linked with rejection or malfunction of the transplant.

In immunocompromised people, CMV can attack specific organs. Types and symptoms of CMV infections include, but are not exclusive/limited to:

  • Esophagus (CMV esophagitis)
  • Stomach or intestines (CMV gastroenteritis) – Diarrhea, swallowing difficulties or pain, and ulcerations with bleeding
  • Eye (CMV retinitis) – Blindness, floaters in the eye, and visual impairment
  • Lung (CMV pneumonia) – Pneumonia with impaired oxygen uptake (hypoxia)
  • Brain – Coma, encephalitis with behavioral changes, and seizures

Trisomy 13 syndrome

Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy refers to three copies of a chromosome instead of the normal two and in Trisomy 13 there is the presence of an extra #13 chromosome. Approximately 80% of infants with Trisomy 13 syndrome will have a full trisomy (affecting all cells) while the remainder will have a trisomy due to a rearrangement of cells called a translocation (an attachment of all or part of one chromosome to another chromosome) or have mosaicism (two different cell lines in an individual such as normal cells and trisomy cells).

Infants born with Trisomy 13 have a recognizable pattern of physical features that often allows the health professional to make the diagnosis of the syndrome. (Genetic testing must be done to confirm diagnosis.) Notable physical birth defects and, sometimes, anatomic changes of internal organs are present. Findings of significance include small head size (microcephaly); small eyes (microphthalmia) or sometimes an absent eye or faulty development of the retina. Cleft lip or cleft palate or both occur in about 60% of children. In addition, there are a number of less medically significant physical findings that are helpful in diagnosis. These include variations of ear shape, changes on the palm of the hand, and extra fingers and toes. Changes in foot development, including changes to the heel, the so-called rocker bottom foot, can occur.

Heart Defects
About 80% of children with Trisomy 13 will have a congenital heart defect. This can include: ventricular septal defect (VSD), an opening between the lower chambers of the heart which prevents the heart from pumping blood correctly (a heart murmur is generally heard from this finding); atrial septal defect (ASD), an opening between the two upper chambers of the heart making it difficult for the heart to pump sufficient oxygen-rich blood to body tissues (a heart murmur is often heard); patent ductus arteriosis (PDA), a defect involving the lack of closure of the channel that usually closes near the time of birth and thus remains open; and dextrocardia, which is a location of the heart on the right side of the chest. The majority of heart lesions are usually not those that cause death in the neo-natal period but on occasion more medically serious heart defects can occur in Trisomy 13.


  • Trisomy 13
  • Patau Syndrome
  • Trisomy 13-15
  • D Trisomy Syndrome

(the last two terms are usually not used at the present time)

Medical Problems
The major implications of Trisomy 13 involve a predisposition to the congenital malformations (birth defects) mentioned above, an increased mortality in infancy and developmental and motor disability in older children. In addition, older infants can have visual difficulties because of the findings mentioned above and a hearing loss. The increased mortality is related to difficulties with breathing due either to interrupted breathing (apnea) or problems of lung development. In addition, gastroesophageal reflux (backward flow of a small amount of stomach contents upward to the throat) and feeding problems can occur and predispose to aspiration (small amount of liquid inhaled or trickled into the lungs) which can precipitate aspirational pneumonia. 

Important and Common Birth Defects in Trisomy 13

  • Omphalocele 10%
  • Holoprosencephaly 60% (an anatomic defect of the brain involving failure of the forebrain    to divide properly)
  • Kidney defects 30%
  • Skin defects of the scalp 20%

Common Disorders in infants and young children with Trisomy 13

  • Feeding difficulties
  • Gastroesophageal reflux
  • Slow post natal growth
  • · Apnea
  • Seizures
  • Hypertension
  • Kidney defects
  • Developmental disabilities
  • Scoliosis

Routine follow-up care of infants with Trisomy 13

  • Routine child care/anticipatory guidance
  • Cardiac evaluation
  • Eye evaluation
  • Hearing test
  • Referral for Infant pre-school/early intervention program
  • Ongoing Support
  • Scoliosis check through childhood
  • Routine immunization including chicken pox

Angelman syndrome

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.

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
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