Rett syndrome associated with low vitamin D, treated by Omega-3

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Omega-3 greatly helped RETT children - RCT Jan 2012

Partial rescue of Rett syndrome by x-3 polyunsaturated fatty acids (PUFAs) oil


 Download the PDF from VitaminDWiki

Study was cited 335 times by Jan 2024

• Chapter 15 - Omega-3 nutritional intervention as therapeutic co-adjuvant approach to improve Rett syndrome clinical and biochemical features https://doi.org/10.1016/B978-0-443-19247-0.00011-4
  • Biochemical, Physiological and Pharmacological Aspects - book 2023

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Compromised immune/inflammatory responses in Rett syndrome - May 2020

Free Radical Biology & Medicine Vol 152, 20 May 2020, Pages 100-106 https://doi.org/10.1016/j.freeradbiomed.2020.02.023
Alessandra Pecorelli a, Carlo Cervellati b, Valeria Cordone b, Joussef Hayek c, Giuseppe Valacchi a b d

Mutations in X-linked gene methyl-CpG-binding protein 2 (MECP2), a key transcriptional regulator, account for most cases of Rett syndrome (RTT), a devastating neurodevelopmental disorder with no known cure. Despite extensive research to elucidate MeCP2 functions, the mechanisms underlying RTT pathophysiology are still unclear. In addition to a variety of neurological symptoms, RTT also includes a plethora of additional phenotypical features including altered lipid metabolism, redox imbalance, immune dysfunction and mitochondrial abnormalities that explain its multisystemic nature. Here, we provide an overview of the current knowledge on the potential role of dysregulated inflammatory and immune responses in RTT. The findings show that abnormalities of humoral and cell-mediated immunity together with chronic low-grade inflammation in multiple organs represent not only clinical manifestations of RTT but rather can contribute to its development and deteriorating course. A future research challenge could be to target therapeutically immune dysfunction as a novel means for RTT management.

Clipped from PDF
"Rett syndrome (RTT; OMIM 312750) is a complex neurodevelopmental disorder characterized by a wide range of neurological and physical impairments with an incidence ranging from 1/10,000 to 1/15,000 live births, making RTT the second most frequent cause of intellectual disability in females after Down Syndrome."
   see in VitaminDWiki - Down's syndrome and low vitamin D - several studies
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" In this regard, some interesting results come from some studies evaluating the effects
of omega-3 polyunsaturated fatty acids (ω-3 PUFAs) supplementation on RTT immune function.
Dietary supplementation with ω-3 PUFAs for 12 months in a total of 24 RTT patients was able
to partially rescue the altered plasma proteome related to APR (see previous section) [63]. In an
another study, a beneficial modulatory effects of ω-3 PUFAs on the altered profile of plasma
cytokines in RTT was observed associated with improved redox homeostasis and inflammatory
status [51]. The beneficial impact of ω-3 PUFAs dietary intake is attributed mainly to their
bioactive metabolites such as resolvins and protectins generated in vivo by cyclooxygenases,
lipoxygenases, and cytochrome P450 monooxygenases. In this context, the decreased serum
levels of HODEs detected by our group in ω-3 PUFAs-supplemented RTT patients respect to the
not supplemented group could indicate a shift from the production of ω-6 metabolites toward
competitive and proresolving lipid mediators derived by ω-3 PUFAs [38]. Future investigations
could help to better clarify the molecular mechanisms involved in the action of ω-3 PUFAs in
RTT, supporting their use in this rare disorder that still do not have any effective treatment options."
 Download the PDF from VitaminDWiki

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Vitamin D deficiency in Serbian patients with Rett syndrome - 2013

The Journal of Clinical Endocrinology & Metabolism October 8, 2013 jc.2013-2627
Adrijan Sarajlija1, Milena Djuric 2,3, Darija Kisic Tepavcevic 3,4,; Sanja Grkovic 5 and Maja Djordjevic1,2
1Department of Metabolism and Clinical Genetics, Mother and Child Health Institute of Serbia, Belgrade;
2Department of Neurology, Mother and Child Health Institute of Serbia, Belgrade;
3Belgrade University School of Medicine, Serbia;
4Institute of Epidemiology, Belgrade, Serbia;
5Metabolic Laboratory, Mother and Child Health Institute of Serbia, Belgrade
Address all correspondence and requests for reprints to: Adrijan SARAJLIJA, e-mail: adrijans2004 at yahoo.com, Radoja Dakica Street 6–8, 11070 Novi Beograd, Serbia, phone: +381113108276, fax: +381113108276.

INTRODUCTION: Rett syndrome (RTT) is a severe neurodevelopmental disorder. Bone manifestations of RTT include osteopenia and fractures. Studies addressing serum vitamin D levels in RTT patients are scarce.

GOALS: 1. To determine prevalence of vitamin D deficiency in RTT patients, 2. To compare serum vitamin D levels between patients with RTT and other neurological diseases, 3. To explore correlation between demographic and clinical characteristics of RTT patients and vitamin D levels.

METHODS: Demographic and clinical characteristics included age, BMI z-score, mutation status, Clinical Severity Score, presence of epilepsy, number of antiepileptic drugs (AEDs), history of fractures, scoliosis and ambulation ability. Laboratory parameters included serum 25(OH)D, PTH, calcium and alkaline phosphatase.

RESULTS: The study included 35 RTT patients and 35 age-matched females with other neurological diseases. The median serum 25(OH)D in RTT group was 26.25 nmol/L, with values below 75 nmol/L in all participants. Severe deficiency (<25 nmol/L) was detected in 17/35 (48.6%) patients. Median 25(OH)D concentration was significantly lower in RTT patients than in controls. The risk for fracture by 12 years of age in RTT patients was 35.3%. Inverse correlation of 25(OH)D level to age and PTH level was detected. Patients receiving antiepileptic polytherapy had 3.3 times greater chance for severe vitamin D deficiency than patients with monotherapy.

CONCLUSION: Prevalence of vitamin D deficiency in RTT patients is higher than in patients with other neurological diseases.
High risk for vitamin D deficiency should be accounted for in the strategy of antiepileptic treatment in RTT, especially when polytherapy is considered.

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49% had <10 ng/ml of vitamin D
3.3X more likely to have < 10 ng/ml if taking multiple antiepileptic drugs
Alternate hypothesis: Severe Ritt ==> polytherapy &l low vitamin D
Do vitamin D levels become low only AFTER seizures start (age 3)? (see chart below)

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Autism category in VitaminDWiki

Start with

Autism category has 165 items

 - see also Overview Autism and vitamin D,  Autoimmune ,   Cognitive,    ADHD
Interesting Autistic studies
Autism associated with low Vitamin D

• Most Autism Risk factors are associated with low vitamin D - March 2014
• Rickets – 26 percent had autism: no rickets, no autism (both associated with low vitamin D) – June 2015
• Autistics have half of the response to Vitamin D – RCT Oct 2018
• Vitamin D fights autism - trying to figure out how and why – May 2022

Autism TREATED by Vitamin D

• Autism in children reduced by Vitamin D (used 300 IU per kg per day) – RCT Oct 2016
• Autism treated by Vitamin D (monthly injection of 150,000 IU) – June 2017
• Autism decreased in 8 out of 10 children supplemented with vitamin D – April 2015

Autism PREVENTED by vitamins before and during pregnancy

• Autism risk is reduced by Vitamin D – early pregnancy or chlldhood – Umbrella review – July 2024
• Vitamin D and autism - treat: 300 IU per kg per day, prevent: during pregnancy 5,000 IU – Feb 2017
• Autism reduced 24% for each 4 ng more Vitamin D while pregnant ( ADHD 12%) – Feb 2024
• Autism rate cut in half when multivitamins (including vitamin D) used during pregnancy – Oct 2017
• Autism risk reduced 2X by prenatal vitamins (Vitamin D or Folic) – Feb 2019
• Autism 3X more likely after closely spaced pregnancy vs 3 year apart– Jan 2011
• Low Vitamin D decreases fertility and increases subsequent autism, ADHD, etc – Feb 2018
• Women who had supplemented with any vitamins were 6 X less likely to have autistic offspring – Jan 2018
• Autism rate in siblings reduced 4X by vitamin D: 5,000 IU during pregnancy, 1,000 IU to infants – Feb 2016

Autism and Vitamin D Receptor (not enough Vit D gets to the cells)
This list is automatically updated

Autism - other risk factors

• Autistic symptoms reduced by Vitamin D and or Omega-3 – RCT March 2019
• Autism risk increased if infant had antibiotics (2X), acetaminophen (3X), or no vitamin D drops (1.5X) – June 2018
• 20 X more Parkinson's and 100X more Autism with GMO soy in China
  • Note >100X increase in Autism while having GMO soy in the US

6 Autism and Virus/Vaccines

Dr. Cannell on Autism and Vitamin D in VitaminDWiki

• Autism treated by Vitamin D (80 – 120 ng) – Cannell update May 2018
• Autism Causes, Prevention and Treatment: Vitamin D Deficiency etc. – Book April 2015 Cannell
• Autism cured in a child with Vitamin D, Dr. Cannell comments and cofactor recommendations – March 2015
• Autism and Vitamin D - Dr. Cannell in Life Extension Mag - Jan 2014
• Autism treated by Vitamin D: Dr. Cannell - video June 2013
  • includes his list of 27 reasons to associate Vitamin D with Autism in 2013

7 studies: Autism reduced by Omega-3

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See also VitaminDWiki

• Epilepsy seizures reduced by 40 percent after vitamin D levels normalized – April 2012
• Epilepsy and deficiency of vitamin D and-or Magnesium – Feb 2013
• Children with epilepsy advised to take vitamin D – July 2013
• Overview Autism and vitamin D
• Learning Disabilities, anti-epileptic drugs, and subsequent vitamin D deficiency - Oct 2014

See also web

• https://www.rettsyndrome.org/
• Vitamin D and Rett Syndrome Reverserett.org. Dec 2020
• WikiPedia Rare: 1 in 10,000 girls
  • The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
• Fish Oil & Rett Syndrome – Everything I know Jan 2013
  Starts with a study (attached at the bottom of this page) 6 months 10 girls with omega-3 oils had improvements in:
  Growth (body), Motor skills/independent sitting, Walking ability, Purposeful hand use. Non-verbal communication, Breathing irregularities
  No improvements were reported in: Age of onset of regression. Head growth, Scoliosis, Autonomic systems, Onset of stereotypies (e.g. hand movements). Epilepsy/seizure activity

Some images from the web

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Chart-GPT description of Rett Syndrome - Jan 2024

Rett Syndrome is a rare genetic neurological disorder that primarily affects girls and is usually discovered in the first two years of life. It leads to severe impairments, affecting nearly every aspect of the child's life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett Syndrome is near constant repetitive hand movements while awake. The syndrome is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.

Rett Syndrome is caused by mutations in the MECP2 gene on the X chromosome. This gene provides instructions for making a protein that is needed for brain development and acts as one of the many biochemical switches that can either increase gene expression or tell other genes when to turn off and stop producing their own unique proteins. Because the disorder occurs on the X chromosome, it primarily affects girls. Boys who have the mutations in the MECP2 gene usually die shortly after birth.

The symptoms of Rett Syndrome include slowed growth, problems with hand movements and coordination, repetitive hand movements such as wringing and washing, walking abnormalities, and intellectual disability. There may also be problems with breathing, seizures, scoliosis, and sleep disturbances.

Currently, there's no cure for Rett Syndrome, and treatment focuses on managing the symptoms. A multidisciplinary approach involving regular medical care, physical therapy, speech therapy, and occupational therapy can help children and their families cope with the various symptoms of the disorder.

Compare Rett to Autism
Rett Syndrome is not a form of autism, although it shares some similarities with autism spectrum disorders and is often initially misdiagnosed as autism. Both Rett Syndrome and autism are neurodevelopmental disorders, and they can have overlapping symptoms, especially in early stages. These may include impaired social interaction, language difficulties, and repetitive behaviors. However, Rett Syndrome has distinct features and a known genetic cause that sets it apart from autism.
​
Key differences include:

1. Genetic Cause: Rett Syndrome is primarily caused by mutations in the MECP2 gene on the X chromosome. Autism spectrum disorders, meanwhile, have a more complex and less well-understood set of genetic and environmental risk factors.
2. Progressive Nature: Rett Syndrome is a progressive disorder, meaning that children with Rett Syndrome typically develop normally for the first few months or years of life before experiencing a loss of skills and abilities. Autism does not typically involve this kind of regression, although there can be varying degrees of developmental delay.
3. Physical Symptoms: Children with Rett Syndrome often develop distinctive hand movements, such as wringing or repetitive clapping, and may have problems with physical coordination and movement. These physical symptoms are not characteristic of autism.
4. Gender Prevalence: Rett Syndrome almost exclusively affects girls, due to its link with the X chromosome. Autism spectrum disorders are more common in boys.

In summary, while Rett Syndrome and autism can appear similar in early stages, they are distinct disorders with different causes, symptoms, and progression.

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