November 25, 2015

FOXG1 syndromeIn 2013, The International FOXG1 Foundation was founded by parents of children with FOXG1 – a severe neurological condition characterized by seizures, the inability to control body movements, and a lack of speech. The goal of the Foundation is to build awareness of the FOXG1 condition, provide support and inspiration to families with affected children, and raise money for research.

Infants and young children with FOXG1 syndrome will often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The condition is also characterized by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills. Because of these social impairments, FOXG1 syndrome is classified as an autism spectrum disorder.

FOXG1 syndrome had previously been classified as a congenital variant of Rett syndrome, a similar disorder of brain development, impaired development, intellectual disability, and communication and language difficulties. Rett syndrome, however, is almost exclusively diagnosed in females, whereas the FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal, early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now consider FOXG1 syndrome distinctive from Rett syndrome.

The FOXG1 syndrome is caused by changes to the FOXG1 gene. This gene provides instructions for making a protein called “forkhead box G1”, which plays an important role in brain development before birth, particularly in a region of the embryonic brain known as the telencephalon. The telencephalon ultimately develops into several critical structures, including the largest part of the brain (the cerebrum), which controls most voluntary activity, language, sensory perception, learning, and memory.

FOXG1 syndrome is caused by mutations within the FOXG1 gene itself, or the condition can occur as a result from a deletion of genetic material from a region of the long (q) arm of chromosome 14 that includes the FOXG1 gene – all of which prevent the production of forkhead box G1 or impair the protein’s function. A shortage of functional forkhead box G1 disrupts normal brain development, beginning prior to birth, which appears to underlie the structural brain abnormalities and severe developmental problems characteristic of FOXG1 syndrome.

Observed symptoms as noted by parents of children with FOXG1 by the International Fox G1 Foundation include the following:  (Please note, not all symptoms are present in each child.)

  • Inconsolable crying during first year of life
  • Non-ambulatory or delayed gross and fine motor skills
  • Partial or complete agenesis of the corpus callosum
  • Teeth-grinding
  • Limited purposeful use of hands
  • Enlarged ventricles in the brain
  • Movement disorder, involuntary movements
  • Microcephaly
  • Seizures
  • Spontaneous laughter
  • Cortical visual impairment
  • Strabismus
  • Higher than average pain tolerance
  • Increased susceptibility to illness
  • Constipation
  • High and/or low muscle tone
  • Regression (very rare)
  • Swallowing and/or digestive issues
  • Sleep disturbances
  • Non-verbal or minimal word approximations
  • Reflux
  • Temperature regulation issues
  • Flushing, low tolerance of heat
  • Exceptional love of water and music
  • Hand washing motions
  • Small hands and feet
  • High palates

FOXG1 and Epic Health Services

As an industry leader in pediatric home health services, Epic understands the daily challenges of caring for a medically fragile child. Our licensed nurses work closely and compassionately with a child and their family to provide the best care possible.

From skilled private duty nursing to therapy services, our experienced, licensed nurses are committed to improving your child’s life. We work closely with each family to understand their unique challenges and develop an environment that supports the entire family. It is our priority to match our services to your needs and provide the personalized care at the precise time needed.

Contact us to find out how we can help your family. Whether your need is assistance for minimal tasks or for more involved care, we are here to help.