The Journal of Clinical Endocrinology & Metabolism October 8, 2013 jc.2013-2627
Darija Kisic Tepavcevic3,4,
Sanja Grkovic5 and
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.
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)
- 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
- Vitamin D Council
- 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