Cognition and Learning
how Glut1 Deficiency patients learn, think, remember, and use knowledge
Glut1 Deficiency is a complex disease with cognitive implications for most patients that impact thinking, behaving, and interacting with the world. The cognitive impacts can be quite variable from patient to patient, affected not only by the underlying disease mechanisms around glucose supply to the brain and the impact on brain function, but also by seizures and movement disorders that can further impede cognitive development.
There is much still that we don't know, but it is important to remember that there are environmental factors that can have a tremendous impact on cognitive development and intelligence and there is much that can be done to help improve the outcomes long term. It is also important to understand your loved one's individual cognitive profile so that you can better advocate for services (therapies, benefit programs, and school services), better understand the prognosis, and help better plan for the future.
Summary
There is much still that we don't know, but it is important to remember that there are environmental factors that can have a tremendous impact on cognitive development and intelligence and there is much that can be done to help improve the outcomes long term. It is also important to understand your loved one's individual cognitive profile so that you can better advocate for services (therapies, benefit programs, and school services), better understand the prognosis, and help better plan for the future.
Summary
- Average IQ is 70, but there is a range across patients. There may be minimal impact within normal measurement limits on the milder end but more substantial and persistent disability on the more severe end of the spectrum.
- There is a strong correlation between IQ scores and the overall CSF blood glucose uptake ratio.
- Overall cognitive function was shifted downward from the general population.
- Receptive language skills are stronger than expressive skills.
- Speech and language difficulties can impede cognitive development and the ability to accurately measure it.
- Visual attention to details is weak.
- Attention skills are weak and can interfere with cognitive development.
- Fine motor skills are weak and can limit opportunities to explore and learn about the world.
- Developmental gains are seen over time.
- There is no evidence of loss of skill over time for those who are on the ketogenic diet.
- The impact on adaptive skills can limit independence.
- Social skills are strengths.
- Emotional and behavioral functioning have not been studied in Glut1 Deficiency patients.
- We need better and more refined assessments to more accurately understand the cognitive implications.
Learning and School Performance
Although the cognitive ability levels among Glut1 Deficiency patients vary greatly, the following general characteristics are particularly helpful to keep in mind when planning for more successful school experiences.
Weak areas include:
Most countries have legal processes in place to protect the rights of students with disabilities. Parents and school staff work together to develop instructional goals and spell out learning needs, the services and accommodations schools will provide to meet those needs, and how progress will be measured. Remediations, special learning programs, school-based therapies, testing accommodations, assistive technology, and small group and one-on-one instruction/assistance can all be beneficial to academic success for Glut1 Deficiency patients.
Other types of planning help ensure that students with disabilities receive the accommodations necessary to be as successful as non-disabled students and have equal to educational opportunities. This can cover more non-instructional needs or areas such as special transportation, special scheduling or seating, behavior charts, modified attendance, mobility devices, participation in extra-curricular programs, or special supervision or accommodations at meal time (especially important for those on dietary therapies).
It is important for family members to be active and vocal participants in developing school-based plans, and to educate, collaborate, and form partnerships with school personnel in order to best meet the unique and individual needs of Glut1 Deficiency patients.
Although the cognitive ability levels among Glut1 Deficiency patients vary greatly, the following general characteristics are particularly helpful to keep in mind when planning for more successful school experiences.
Weak areas include:
- lowered IQ and adaptive-behavior scores
- expressive language deficits
- fine motor skills
- limited visual attention to details
- abstract analytical skills
- transfer of learning to new contexts
- memory
- receptive language or understanding
- social skills
- fun-loving and empathetic personalities
- perseverance
Most countries have legal processes in place to protect the rights of students with disabilities. Parents and school staff work together to develop instructional goals and spell out learning needs, the services and accommodations schools will provide to meet those needs, and how progress will be measured. Remediations, special learning programs, school-based therapies, testing accommodations, assistive technology, and small group and one-on-one instruction/assistance can all be beneficial to academic success for Glut1 Deficiency patients.
Other types of planning help ensure that students with disabilities receive the accommodations necessary to be as successful as non-disabled students and have equal to educational opportunities. This can cover more non-instructional needs or areas such as special transportation, special scheduling or seating, behavior charts, modified attendance, mobility devices, participation in extra-curricular programs, or special supervision or accommodations at meal time (especially important for those on dietary therapies).
It is important for family members to be active and vocal participants in developing school-based plans, and to educate, collaborate, and form partnerships with school personnel in order to best meet the unique and individual needs of Glut1 Deficiency patients.
Conference presentation summaries from:
Veronica J Hinton, Ph.D.
G.H. Sergievsky Center
Department of Neurology
Columbia University Medical Center
New York, New York
Louisville 2010
New Orleans 2011
Houston 2013
Washington, DC 2019 - see the Conference Summary Report
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Peter Stavinoha, PhD
Children’s Medical Center Dallas
UT Southwestern Medical Center
Dallas, Texas
Orlando 2015 (page 12)
___________
Valentina Di Giorgis
University of Pavia
Pavia, Italy
Milan 2016
G.H. Sergievsky Center
Department of Neurology
Columbia University Medical Center
New York, New York
Louisville 2010
New Orleans 2011
Houston 2013
Washington, DC 2019 - see the Conference Summary Report
————————-
Peter Stavinoha, PhD
Children’s Medical Center Dallas
UT Southwestern Medical Center
Dallas, Texas
Orlando 2015 (page 12)
___________
Valentina Di Giorgis
University of Pavia
Pavia, Italy
Milan 2016
