Microcephaly, Resources

About Microcephaly




Often times there are misconceptions about what a particular diagnosis means. This is why knowledge IS power and in hopes of continuing awareness and further education I have provided a brief and general overview of what microcephaly is by definition. However, please keep in mind that regardless of the diagnosis an individual is not defined by it. Each image provided below will lead you back to the original source if you want to know more, so  READ & CLICK away 🙂




What is Microcephaly?

  • Microcephaly is a medical condition in which the circumference of a child’s head is smaller than normal because the brain has not developed properly or has stopped growing.
    • Congenital microcephaly is defined as head circumference that is below the 3rd percentile.
    • There are some clinicians that have also classified head circumferences that are below 10th percentile as microcephaly as well.
  • Microcephaly can be present at birth or it may develop in the first few years of life.
  • 12 babies per 10,000 are diagnosed with microcephaly in the U.S each year.

 

COMMON CAUSE

It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. However there are cases in which microcephaly develops after birth.

  • Congenital microcephaly
    • Prenatal infections: Exposure to the Zika virus, especially in the first trimester of pregnancy, can damage nerve cells in the brain. Rubella (German measles), chickenpox, toxoplasma and cytomegalovirus all have links to the development of microcephaly.
    • Genetic mutations: Several hundred genes have been linked with microcephaly, and more are still being discovered. Defects in these genes can interfere with the brain’s growth. In some cases, microcephaly may be related to Down syndrome or certain neuro-metabolic disorders.
    • Other causes during pregnancy: There is evidence that alcohol and substance abuse, inadequate nutrition, untreated phenylketonuria (PKU) or exposure to toxic chemicals and certain prescription drugs during pregnancy can cause microcephaly in a baby.

 

  • Microcephaly in infancy
    • genetic mutations
    • traumatic brain injury
    • lack of oxygen to the brain
    • an infection in the brain

 

  • Zika Virus
    • There is still an ongoing debate on whether or not the Zika virus is related to microcephaly, especially since 2015 and the increase in prevalence of microcephaly in South America. Below is a picture that shows the possible link between Zika and microcephaly. CLICK photo for more info:

COMMON SYMPTOMS

  • poor weight gain and growth
  • high-pitched crying
  • poor appetite/feeding
  • difficulty with movement and balance
  • abnormal muscle tone (too loose, too tight)
  • speech delays
  • mild to severe learning disabilities

 

CO-EXISTING CONDITIONS

Depending on the severity of an accompanying syndrome, children with microcephaly may have:

  • very short stature or dwarfism
  • facial deformities
  • seizures
  • vision and hearing problems 
  • joint deformities (for example, in children with Zika infection)

 

MICROCEPHALY DIAGNOSIS

  • Evaluation
    • Taking in family history.
    • Observing head measurements during prenatal ultrasound
    • Tracking the trajectory of child’s head circumference size after birth and throughout the first year’s well baby check-up.

 

  • Imaging (recommended if child begins to develop a learning disability or other developmental delay)
    • X-ray
    • CT-scans
    • MRI

 

  • Genetic testing
    • whole-genome and whole-exome sequencing
    • high-coverage sequencing
    • RNA sequencing
    • genome-wide association studies (GWAS)
    • chromosomal microarray analysis
    • gene expression studies

 

COMMON INTERVENTIONS

All children diagnosed vary in terms of how much intervention is needed and there are many who need very little intervention or none at all. Intervention and treatment for microcephaly is more individualized because it’s focused primarily on managing the unique symptoms of an individual. The level of support is contingent upon severity, which can include:

  • physical therapy
  • occupational therapy
  • speech therapy

 

PROGNOSIS

Head size cannot predict individual outcomes and it should be noted that many individuals who have microcephaly and live life with minimal to no limitations. The main focus in determining prognosis relies on the ability to manage potential complications with co-existing conditions which can negatively impact health outcomes.

 




RESOURCES

 

 

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