Thyroid function in Rett syndrome

Thyroid function in Rett syndrome (RTT) has rarely been studied with unanimous results. However, this aspect is of great concern regarding the effect thyroid hormones (TH) have on proper mammalian brain development

IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients

Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin-like growth factor 1 (IGF1), are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1–3) IGF1, cross the blood brain barrier, and (1–3) IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish whether there are major risks associated with IGF1 administration in RTT patients. Six young girls with classic RTT received IGF1 subcutaneous injections twice a day for six months, and they were regularly monitored by their primary care physicians and by the unit for RTT in Versilia Hospital (Italy). This study shows that there are no risks associated with IGF1 administration.Region TuscanyASL12 ViareggioTIAMO FoundationSFI08/IN.1/B1916Marie Curie IRG (248284

Aging in people whith Rett Syndrome: clinical, automatic and genetic description of an italian population of 72 subjects

We Describe a sample of 72 adult subjects whit Rett Sindrome (RTT) from the clinical , automic and genetic point of view, out a population of 169 RTT girls referred to the Rett Centre of the Tuscany Area Vasta and to the Unit of Medical Genetics of the University Hospital of Ferrar

La variante di Hanefeld e il Gene CDLK5

NODefinita come una patologici dello sviluppo neurologico che colpisce processi maturativi specifici delle cellule nervose, la sindrome di Rett (RTT) comporta la compromissione dello sviluppo cerebrale ed un conseguente grave deficit dell\u27organismo. L\u27eziologia della sindrome ? imputabile all\u27alterazione del gene MECP2 o di altri geni ad esso col lega li, localizzati nel cromosoma X. Ci? spiega l\u27insorgenza della malattia quasi esclusivamente nelle femmine con un \u27incidenza di 1:12000, manifestandosi dopo un primo anno di vita apparentemente normale. La lettura di questo volume - che individua le principali aree di ricerca nelle due sezioni "Clinica e natura della sindrome d? Reti" e "Terapia, comunicazione, integrazione sociale" - pu? servire a incoraggiare genitori, medici, insegnanti e terapisti del linguaggio e della motricit? nel conviincimento che intervenire con successo nei complessi risvolti clinici e sociali della RTT ? possibile, avendo cura di difendete le pazienti dalle pi? comuni complicanze neurologiche e ortopediche e aprendo un vano nel loro isolamento sociale e scolastico attraverso un adeguato e personalizzato intervento cognitivo e psicomotorio che favorisca la mobilit? e la comunicazion

Neurophysiology Versus Clinical Genetics in Rett Syndrome: A Multicenter Study

Many studies have attempted to establish the genotype–phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well‐defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype–phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non‐invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence‐based management in RTT. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc

Variant of Rett Syndrome and CDKL5 gene: clinical and autonomic description of 10 cases

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope. RESULTS: Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype. CONCLUSIONS: The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant

Correction to: Variant of Rett Syndrome and CDKL5 gene: clinical and autonomic description of 10 cases

No abstract available

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

No abstract available