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3551 Low Cholesterol: A Major New Factor in Autism
Friday, July 11, 2008: 10:45 AM-12:00 PM
Sun Ballroom 1 (Gaylord Palms Resort & Convention Center)
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Cholesterol supplementation reverses many symptoms of autism in SLOS disorder. Some parents reported significant decreases in autistic behavior within days. Supplementation has allowed some patients to sleep through the night for the first time and others to overcome aberrant behaviors, to learn to walk, to speak for the first time, and to become responsive and sociable.
Benefits of cholesterol supplementation include:
- decreased infections
- reduced skin rashes
- marked reduction in self-hurtful behaviors
- improved muscle tone, behavior, and sociability
- decreased tactile defensiveness
Symptoms of SLOS
• Extremely low cholesterol- some even 0 mg/dL
• High 7-dehydrocholesterol
• 75% on autistic spectrum in one study
• Fused 2nd and 3rd toes
• Lack of speech
• Severe behavior abnormality: frequent temper tantrums, hyperactivity, violent outbursts, destruction of property, self-mutilation
• UV-light sensitivity
Formation of cholesterol
High cholesterol in children decreases mortality
Brain cholesterol in cell membranes
Importance of cholesterol in brain
• In the central nervous system (CNS), essentially all (99.5%) cholesterol is unesterified, and the majority of cholesterol present in the CNS is believed to reside in 2 different pools:
• One represented by the myelin sheaths and the other by the plasma membranes of astrocytes and neurons.
• It has been estimated that up to 70% of the brain cholesterol is associated with myelin.
• Half of the white matter may be composed of myelin
• Brain is the most cholesterol-rich organ in the body.
• The concentration of cholesterol in the brain, and particularly in myelin, is consistent with an essential function related to its membrane properties.
Risks from low total cholesterol
• Increased cancer
• Increased violent behavior, aggression
• Increased infection susceptibility such as tuberculosis and gastrointestinal infections
• Increased anxiety, suicide
• Increased depression, bipolar disorder
• Double the death rate in older adults
• Increased stroke rate
• Increased cataracts
Hedgehog protein
• Geneticists discovered a mutant fruit fly (Drosophila) whose larvae had bristles that resembled the animal called a hedgehog
• The entire development of the fly was altered by this mutation.
The Great Plains Laboratory cholesterol study Of children with autistic spectrum disorder
Functions of sonic hedgehog
• Plays a central role in developmental patterning, especially of the nervous system and the skeletal system.
• The molecular evolution of SHH is markedly accelerated in primates relative to other mammals and, within primates, the acceleration is most prominent along the lineage leading to humans.
• Sonic hedgehog (Shh) is important in the growth and differentiation of a variety of cell types, including the development of T cells in the thymus. Shh-mediated signaling is a physiological component of T cell responses, which acts to regulate CD4- T cell effector function.
• Some mutations of the SHH gene causes a severe brain disorder that affects the midline of the face and nervous system. The disorder is characterized by cleft lip and palate, a single central incisor, and impaired brain differentiation.
• Other mutations cause only behavioral disorder.
• Different levels of SHH cause different types of cells to be formed in the developing embryo.
• SHH is a transcription regulating protein that alters which genes function at a given time.
• SHH is involved in the separation of the single eye field into two bilateral fields. Some mutations of the SHH gene can cause complete cyclopia, a single eye in the center of the head.
• Purkinje neurons secrete SHH to sustain the division of granule neuron precursors in the external granule layer in cerebral development. Abnormal cerebellar development and especially purkinje cell development has been associated with autism.
• Plays an important role in limb development. The lack of sufficient cholesterol to activate SHH in SLOS may be the reason that abnormalities of the toes and fingers are common in SLOS
Benefits of cholesterol feeding in SLOS
• Beginning to walk
• Start to run
• Growth improvement
• Less infections
• Less UV light sensitivity
• Increased alertness
• Head banging stops
• Decreased tactile defensiveness
• Increased sociability
• Behavior improves
• Talking has started in adults who were not talking before
• Verbal people say they feel better
• Many improvements in only a few days after supplement
• Decreased irritability
• Increased muscle tone
High cholesterol foods
Cholesterol Supplements
• Extremely low cholesterol- some even 0 mg/dL
• High 7-dehydrocholesterol
• 75% on autistic spectrum in one study
• Fused 2nd and 3rd toes
• Lack of speech
• Severe behavior abnormality: frequent temper tantrums, hyperactivity, violent outbursts, destruction of property, self-mutilation
• UV-light sensitivity
Formation of cholesterol
High cholesterol in children decreases mortality
Brain cholesterol in cell membranes
Importance of cholesterol in brain
• In the central nervous system (CNS), essentially all (99.5%) cholesterol is unesterified, and the majority of cholesterol present in the CNS is believed to reside in 2 different pools:
• One represented by the myelin sheaths and the other by the plasma membranes of astrocytes and neurons.
• It has been estimated that up to 70% of the brain cholesterol is associated with myelin.
• Half of the white matter may be composed of myelin
• Brain is the most cholesterol-rich organ in the body.
• The concentration of cholesterol in the brain, and particularly in myelin, is consistent with an essential function related to its membrane properties.
Risks from low total cholesterol
• Increased cancer
• Increased violent behavior, aggression
• Increased infection susceptibility such as tuberculosis and gastrointestinal infections
• Increased anxiety, suicide
• Increased depression, bipolar disorder
• Double the death rate in older adults
• Increased stroke rate
• Increased cataracts
Hedgehog protein
• Geneticists discovered a mutant fruit fly (Drosophila) whose larvae had bristles that resembled the animal called a hedgehog
• The entire development of the fly was altered by this mutation.
The Great Plains Laboratory cholesterol study Of children with autistic spectrum disorder
Functions of sonic hedgehog
• Plays a central role in developmental patterning, especially of the nervous system and the skeletal system.
• The molecular evolution of SHH is markedly accelerated in primates relative to other mammals and, within primates, the acceleration is most prominent along the lineage leading to humans.
• Sonic hedgehog (Shh) is important in the growth and differentiation of a variety of cell types, including the development of T cells in the thymus. Shh-mediated signaling is a physiological component of T cell responses, which acts to regulate CD4- T cell effector function.
• Some mutations of the SHH gene causes a severe brain disorder that affects the midline of the face and nervous system. The disorder is characterized by cleft lip and palate, a single central incisor, and impaired brain differentiation.
• Other mutations cause only behavioral disorder.
• Different levels of SHH cause different types of cells to be formed in the developing embryo.
• SHH is a transcription regulating protein that alters which genes function at a given time.
• SHH is involved in the separation of the single eye field into two bilateral fields. Some mutations of the SHH gene can cause complete cyclopia, a single eye in the center of the head.
• Purkinje neurons secrete SHH to sustain the division of granule neuron precursors in the external granule layer in cerebral development. Abnormal cerebellar development and especially purkinje cell development has been associated with autism.
• Plays an important role in limb development. The lack of sufficient cholesterol to activate SHH in SLOS may be the reason that abnormalities of the toes and fingers are common in SLOS
Benefits of cholesterol feeding in SLOS
• Beginning to walk
• Start to run
• Growth improvement
• Less infections
• Less UV light sensitivity
• Increased alertness
• Head banging stops
• Decreased tactile defensiveness
• Increased sociability
• Behavior improves
• Talking has started in adults who were not talking before
• Verbal people say they feel better
• Many improvements in only a few days after supplement
• Decreased irritability
• Increased muscle tone
High cholesterol foods
Cholesterol Supplements
Learning Objectives:
- Introducing the role of Low Cholesterol as a new factor in Autism Spectrum Disorders.
- Benefits of cholesterol feeding in SLOS
- Formation of Cholesterol
- Importance of Cholesterol in the brain
- Risks from low total cholesterol
Content Area: Behavior Issues and Supports
Presenter:
William Shaw, Ph.D.
Director
The Great Plains Laboratory
Dr. William Shaw received a Ph.D. in biochemistry and physiology from Medical University of SC. Is board certified in clinical chemistry and toxicology by ABCC. He supervised large departments at CDC and Smith Kline Laboratories. He was Director at Children’s Mercy Hospital and is Director of The Great Plains Laboratory.
