|1.||Autistic Disorder (Autism)
|2.||Tuberous Sclerosis (Bourneville's Disease)
|3.||Down Syndrome (Down's Syndrome)
|4.||Pervasive Child Development Disorders
|5.||Prader-Willi Syndrome (Syndrome, Prader-Willi)
|1.||Zoghbi, Huda Y: 23 articles (11/2015 - 01/2002)|
|2.||Hayek, Joussef: 20 articles (09/2015 - 08/2009)|
|3.||Neul, Jeffrey L: 18 articles (11/2015 - 04/2004)|
|4.||Signorini, Cinzia: 18 articles (01/2015 - 08/2009)|
|5.||Leoncini, Silvia: 18 articles (01/2015 - 08/2009)|
|6.||De Felice, Claudio: 18 articles (01/2015 - 08/2009)|
|7.||Ciccoli, Lucia: 18 articles (01/2015 - 08/2009)|
|8.||Valacchi, Giuseppe: 17 articles (08/2014 - 08/2009)|
|9.||LaSalle, Janine M: 16 articles (07/2012 - 06/2002)|
|10.||Bienvenu, Thierry: 15 articles (12/2015 - 01/2002)|
|1.||beta-Endorphin (Endorphin, beta)IBA
05/01/1991 - "Cerebrospinal fluid samples from eight girls with Rett syndrome were analysed for beta-endorphin (beta-EP) immunoactivity and compared with samples from a control group of 15 children with acute leukaemia in remission. "
04/01/1997 - "However, CSF levels of beta-endorphin were significantly higher in the patients with Rett syndrome than in the control (p < .05). "
02/01/1992 - "The levels of beta-endorphin immunoreactivity in initial CSF samples exceeded the control range in 90% of the patients with Rett's syndrome. "
02/01/1992 - "The mean (+/- SE) control level of beta-endorphin immunoreactivity in CSF was 35.3 +/- 2.8 pg/ml (range, 23 to 48 pg/ml), whereas those with Rett's syndrome had a mean level of 95.3 +/- 3.6 pg/ml (range, 31 to 293 pg/ml). "
02/01/1992 - "Because some symptoms of Rett's syndrome are suggestive of excessive endogenous opioid activity, we measured the levels of beta-endorphin-like immunoreactivity in lumbar CSF from 158 affected female patients and from 13 female controls. "
|2.||Naltrexone (ReVia)FDA LinkGeneric
04/01/1994 - "The opiate antagonist, naltrexone, will be beneficial in Rett syndrome. "
04/01/1994 - "Rett syndrome: controlled study of an oral opiate antagonist, naltrexone."
04/01/1994 - "Naltrexone may modify some of the respiratory disturbance in Rett syndrome. "
11/01/1987 - "Naltrexone in the management of seizures associated with Rett syndrome."
01/01/1989 - "Preliminary reports of elevated beta-endorphin-like immunoreactivity in the cerebrospinal fluid of girls with the Rett syndrome, as well as improvement in some of their symptoms during the administration of the opioid antagonist naltrexone, are suggestive of endorphinergic hyperactivity. "
|3.||Brain-Derived Neurotrophic Factor (BDNF)IBA
02/15/2015 - "Lack of microglial phagocytosis and decreased levels of BDNF appear to distinguish Rett syndrome from ASDs, in which there is instead microglia activation and/or proliferation and possibly defective BDNF signaling. "
01/01/2014 - "Brain-derived neurotrophic factor and Rett syndrome."
01/01/2014 - "BDNF deregulation in Rett syndrome."
10/16/2012 - "Dysfunction of the neurotrophin brain-derived neurotrophic factor (BDNF) is implicated in Rett syndrome (RTT), but the state of its releasable pool and downstream signaling in mice lacking methyl-CpG-binding protein-2 (Mecp2) is unknown. "
08/01/2012 - "Peripheral administration of brain-derived neurotrophic factor to Rett syndrome animal model: a possible approach for the treatment of Rett syndrome."
|4.||Methyl-CpG-Binding Protein 2IBA
11/01/2015 - "Participants with clinical Rett Syndrome or methyl-CpG-binding protein 2 mutations without clinical RTT were recruited through the Rett Syndrome Natural History study from 2006 to 2015. "
02/01/2015 - "This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. "
04/01/2014 - "To study the clinical features and mutations in methyl-CpG-binding protein 2 (MECP2) gene among children with classical Rett syndrome in China. "
02/01/2007 - "Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients."
12/01/2006 - "Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients."
|5.||Biogenic Amines (Biogenic Amine)IBA
01/01/1987 - "Reduction in cerebrospinal biogenic amine metabolites and characteristic alterations in respiratory, sleep, and EEG patterns were helpful in supporting the clinical diagnosis in the fifteen patients with typical features of Rett syndrome. "
01/01/1987 - "Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study."
01/01/2010 - "Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most promising strategy for improving the life quality of Rett syndrome patients in the short term."
01/01/2010 - "Biogenic amines appear to have an important role in the pathophysiology of Rett syndrome, for several reasons. "
01/01/2010 - "Biogenic amines in Rett syndrome: the usual suspects."
|6.||Folic Acid (Vitamin M)FDA LinkGeneric
08/26/2003 - "The lowered folate binding capacity of FBP is not explained by a defect of the FBP1 or FBP2 gene, but most likely occurs as a secondary phenomenon in Rett syndrome."
08/26/2003 - "Compared to controls, patients with Rett syndrome had normal immunoreactive sFBP1 in CSF, whereas the total folate binding capacity was disproportionately lowered. "
01/01/1985 - "Chromosomes from 46 autistic, 20 psychotic and 15 Rett syndrome children were cultured in a folic-acid-depleted medium. "
03/01/2012 - "Measurements included plasma folate, 5-MTHF, and clinical outcome scores like Rett Syndrome Motor Behavioral Assessment, Hand Apraxia Scale, and the parental Overall Well-Being Index. "
12/01/2007 - "Reduced folate transport to the CNS was identified in two autism spectrum disorders, i.e., Rett syndrome and infantile low-functioning autism with neurological abnormalities. "
|7.||Carnitine (L-Carnitine)FDA LinkGeneric
12/01/1993 - "L-carnitine appears to be an effective treatment for this girl with advanced Rett syndrome."
12/01/2001 - "In order to establish the medium-term effects of L-carnitine, an open label trial was performed in a cohort of 21 Rett syndrome females, with a control group of 62 Rett syndrome females of a similar age, for a 6-month period. "
12/01/2001 - "Medium-term open label trial of L-carnitine in Rett syndrome."
03/01/1999 - "To investigate whether L-carnitine might be of benefit in Rett syndrome, a randomized, placebo-controlled, double-blind crossover trial of L-carnitine has been completed in 35 subjects. "
12/01/2001 - "Treatment with L-carnitine seems to be of significant benefit in a subgroup of girls with Rett syndrome. "
|8.||Buspirone (Buspar)FDA LinkGeneric
09/01/2005 - "This study details a case of Rett Syndrome where the patient's respiratory dysfunction was improved after buspirone was administered. "
09/01/2005 - "Buspirone in Rett syndrome respiratory dysfunction."
03/01/2012 - "Use of buspirone and fluoxetine for breathing problems in Rett syndrome."
08/01/2008 - "Buspirone, a partial agonist of the serotonergic 5-HT1A receptor, improves breathing irregularities in humans with Rett syndrome or brain stem injury. "
09/01/2005 - "The oxygen saturation improvement observed in this case suggests that buspirone might be useful in treating respiratory dysfunction associated with Rett Syndrome. "
07/08/2014 - "β2-Adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome."
10/01/2010 - "Using miRNA expression microarrays, we observed that the brain of Rett syndrome mice undergoes a disruption of the expression profiles of miRNAs. "
10/01/2010 - "Thus, we examined the possible miRNA misregulation caused by Mecp2 absence in a mouse model of Rett syndrome. "
10/01/2010 - "Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome."
07/01/2013 - "It has been shown that the loss of the Mecp2 protein in Rett syndrome cells alters the transcriptional silencing of coding genes and microRNAs. "
|10.||Biotin (Vitamin H)FDA Link
04/01/1986 - "The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature."
04/01/1986 - "Rett syndrome revisited: a patient with biotin dependency."
01/01/1986 - "Biotin and Rett syndrome."
01/01/1986 - "A protein load with an ensuing 20 hr fast was performed to assess the function of biotin dependent carboxylases in 3 girls with Rett syndrome. "
01/01/1988 - "Fenfluramine (n = 104) was third, with a ratio of 1.5:1. Thioridazine hydrochloride (Mellaril), by far the most often used drug on the list (n = 724), was fourth with a helped-worsened ratio of 1.4:1. The research literature on the use of vitamin B6-magnesium is briefly reviewed, and mention is made of recent findings regarding high-dosage folic acid in autism and biotin in Rett syndrome."
04/01/2013 - "Mechanism-based therapeutics are emerging for single-gene neurodevelopmental disorders such as Rett syndrome. "
04/01/2013 - "In this review, we summarize the latest advances in the mechanisms and emerging therapeutics for a rare single-gene ASD, Rett syndrome. "
01/01/2012 - "Rett syndrome: genes, synapses, circuits, and therapeutics."
10/01/2012 - "The reproducible findings of relevant phenotypes in Rett syndrome iPSC-derived neurons suggest that iPSC technology offers a novel and unique opportunity for the understanding of and the development of therapeutics for other autism spectrum disorders."
09/01/2013 - "Fragile X and tuberous sclerosis offer paradigms for the development of targeted therapeutics, but advances in understanding of other disorders such as Down syndrome and Rett syndrome, for example, are also resulting in promising treatment directions. "
01/01/2002 - "The purpose of this study was to examine the effect of hand splints and one elbow restraint on persistent stereotypic hand movements of four girls with Rett's syndrome. "
02/15/2001 - "In this study, we explored the impact of (1) resting hand splints, (2) light tech augmentative communication systems such as voice-output devices and symbols, and (3) very basic parent training on the symbolic communication and labelling behaviours of six girls with Rett syndrome. "
04/01/1990 - "A single-subject study with an ABAB design was conducted to examine the effectiveness of an elbow restraint splint in improving the functional band use of a child with Rett syndrome. "
12/01/1989 - "Two 5-year-old girls diagnosed with early Stage-III Rett syndrome were introduced to hand splints in accordance with the multiple-baseline design used in the Naganuma and Billingsley study. "
12/01/1989 - "Effect of hand splints on stereotypic hand behavior of girls with Rett syndrome: a replication study."
|3.||Self-Help Devices (Assistive Technology)
01/01/2007 - "Assistive technology and supplementary treatment for individuals with Rett syndrome."
01/01/2015 - "This study was aimed at extending the use of assistive technology (i.e., photocells, interface and personal computer) to support choice strategies by three girls with Rett syndrome and severe to profound developmental disabilities. "
|4.||Dilatation and Curettage (D&C)
05/01/1995 - "This study takes into account ten different areas about chronology, age and reasons in the first consultation, some milestones of psychomotor development, the diagnostic criteria--according to Rett Syndrome Diagnostic Criteria Work Group (R.S.D.C.W.G.), they consists of necessary, supportive and exclusion criteria-, some signs and symptoms that authors consider frequently associated with Rett syndrome, some diagnostic tests with neurophysiologic technics--E.E.G.--, as well as neuroimagins technics--C.T. "
08/01/2014 - "The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. "
08/01/2014 - "This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease. "