Sentences with phrase «fragile x»

Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome.

Inclusion criteria for the current study were: European Caucasian descent, IQ ≥ 80, no diagnosis of conduct disorder, autism, anxiety disorder, depression, epilepsy, general learning difficulties, neurological disorders or known genetic disorders (e.g. Fragile X syndrome, Down syndrome).

AD = Autistic disorder; ASD = Autism spectrum disorders; AspD = Asperger's disorder; CP = Cerebral palsy; DD = Developmental disorder; DS = Down syndrome; FQoL = Family quality of life; FXS = Fragile X dyndrome; HFA = High - functioning Autism; ID = Intellectual disability; PDD = Pervasive developmental disorder; PDD - NOS = Pervasive developmental disorder - Not otherwise specified; SOC = Sense of coherence; TD = Typically developing

Parents raising children with ASD have been found to report higher levels of parenting stress, depression and anxiety, and increased general life stress than parents raising children with Down syndrome (DS), cerebral palsy (CP), fragile X syndrome (FXS), intellectual disability (ID), cystic fibrosis (CF) or typically developing (TD) children [e.g. 11, 12, 13, 14, 15, 16, 17].

The present study examined trajectories of adaptive behavior, behavior problems, psychological symptoms, and autism symptoms in adolescents and adults with fragile X syndrome (n = 147) over a three - year period.

Disability experts discuss diagnosis and give an overview of specific disabilities, like cerebral palsy, Fragile X, and vision impairment.

People with psychological disorders such as autism, [3][25] psychosis, [4][26] mood disorder, [27] Williams syndrome, antisocial personality disorder, [5] Fragile X and Turner's syndrome [28] show differences in social behavior compared to their unaffected peers.

For the past several years, she has worked at a therapeutic day school with children and adolescents with ADD, ADHD, Aspergers Syndrome, fragile X Syndrome, and developmental delays.

Epilepsy • Fragile X syndrome • High - functioning autism • Hyperlexia • Multiple - complex Developmental Disorder • Semantic pragmatic disorder • Nonverbal learning disorder

My graduate research explored alternative treatment use in children with ASD, intervention and supports for children with Fragile X Syndrome, and efficacy - based EI programs for young children with ASD.

I coordinated a national study exploring early childhood brain and behavioral development in children with autism, Fragile X Syndrome, and developmental delay.

Better Start This article on the Raising Children website has information about the Australian Government's Better Start for Children with Disability initiative, which funds early intervention services for children under six who have been diagnosed with a sight or hearing impairment, including deafblindness, Down syndrome, cerebral palsy, or Fragile X syndrome.

Commonly, studies have compared an overall measure of stress between parents of children with autistic disorder to those of parents of children with typical development [31]- [34] or those diagnosed with Down Syndrome, intellectual disability, and Fragile X syndrome [15][16][19][35]- [38].

Cerebral Palsy Prematurity Autism PDD - NOS Developmental Delay Down Syndrome Fragile X Velocardiofacial Syndrome Hemifacial Microsomia Fetal Alcohol Syndrome

This condition pertains to the fragile X syndrome among human beings.

My younger son has multiple disabilities stemming from a genetic mutation called Fragile X Syndrome.

She lectures extensively throughout the U.S. as well as internationally, on behavioral and educational interventions for children with neurodevelopmental disorders primarily those with fragile X syndrome.

She completed a two year postdoctoral fellowship at The Children's Hospital in Denver in the Fragile X Treatment and Research Center and subsequently worked at the Child Development Unit within The Children's Hospital.

Jonah has a genetic mutation called Fragile X Syndrome which can cause a constellation of impairments, particularly in males (who, unlike females, don't have a compensatory backup X chromosome.)

I was a fragile x child.

The planTrue ™ carrier screening from True Health employs industry - leading next - generation sequencing technology to detect whether a patient is a carrier for conditions such as cystic fibrosis, spinal muscular atrophy, fragile X, and many others.

Patients with Alzheimer's disease, Fragile X syndrome, Down syndrome, and autism are particularly susceptible to seizures, 12 and the focus of much research at the Waisman Center of Developmental Disabilities has been on the myriad ways drugs, diet and genetic manipulation can affect amyloid beta levels, seizure threshold and behavioral phenotypes.13 In an editorial entitled «Concocting the Right Diet for Brain Health» published December 2011 in Translational Medicine, Dr. Westmark expressed concern about the risks of soy: «The prevailing view is soy is healthy, but much remains to be learned regarding its effects on brain development and function.»

«High exposure to estrogenic compounds during fetal and early childhood development through soy - based food products could disrupt the function of the natural steroid hormones and contribute to the high incidence of seizures associated with many childhood, neurological disorders including autism and FXS (Fragile X Syndrome).

The drug was not successful in clinical trials for Fragile X, but Dr. Calakos is hopeful that it, or a similar compound, could be developed for other conditions.

In the PNAS paper, Warrenâ $ ™ s team describes what happens with a particularly revealing mutation, which allowed researchers to dissect fragile X proteinâ $ ™ s multifaceted functions.

STX209 shows some promise in its ability to reduce social withdrawal, a key symptom of fragile X syndrome.

Fragile X mental retardation protein, or FMRP, oversees a...

In addition to fragile X syndrome, my laboratory also has conducted studies to determine whether the signaling cascades that normally are required for long - lasting synaptic plasticity and memory are altered in mouse models of several developmental disorders, iincluding autism spectrum disorder (ASD), intellectual disability (ID), tuberous sclerosis complex (TSC), and Angelman syndrome.

Because more than one - third of fragile X patients are also diagnosed with autism, the study may shed light on that condition.

Warren and colleague Mika Kinoshita are co-authors on a companion paper in STM on treatment of fragile X mice.

The drug, called STX209 or arbaclofen, is one of the first designed to treat the molecular changes in the brain caused by fragile X syndrome.

Gross, C., Chang, C. - W., Kelly, S.M., Bhattacharya, A., McBride, S.M.J., Molinaro, G., Raj, N., Allen, A.G., Whyte, A.J., Danielson, S.W., Jiang, M.Q., Chan, C. - B., Ye, K., Gibson, J.R., Klann, E., Jongens, T.A., Moberg, K.H., Gourley, S.L., Huber, K.M., and Bassell, G.J. (2015) Increased expression of the PI3K enhancer PIKE mediates deficits in synaptic plasticity and behavior in fragile X syndrome.

Fragile X affects one boy in 4,000 and one girl in 7,000.

Since 2011, as an associate professor at Stanford University, I have led a team focused on synaptic changes occurring during normal and pathological behaviors (sleep, fragile X syndrome, ASD) as well as eye / brain neuronal regeneration.

Santini E, Huynh TN, Longo F, Koo SY, Mojica E, D'Andrea L, Bagni C, Klann E. (2017) Reducing eIF4E - eIF4G interactions restores the balance between protein synthesis and actin dynamics in fragile X syndrome model mice.Sci Signal.

In any case, it's far too soon to declare victory over fragile X, Zhao stresses.

«We are a long way from declaring a cure for fragile X, but these results are promising.»

A normal version of the FMR1 gene sequence, where the fragile X syndrome can develop, contains 5 - 55 nucleotide (CGG) repeats.

The team was also able to reverse the abnormal electrical activity associated with the fragile X syndrome.

Fragile X syndrome (FXS) is an X-linked neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder.

The most common form of intellectual impairment in men is known as the fragile X syndrome and affects 1 out of 3,600 boys.

Fragile X syndrome (FraX), the most common heritable cause of developmental disability, is associated with IQ, memory, and visuospatial processing deficits.

The team produced the first evidence that removing methylation, which are molecular tags that keep a mutant gene shut off, can reactivate the gene and restore the fragile X syndrome neurons.

The healthy control mice take three or four sessions; the mice engineered to mimic Fragile X syndrome can take nearly twice as long.

Scientists at the Whitehead Institute used CRISPR / Cas9 gene editing method to restore activity to the fragile X syndrome gene in affected neurons.

Studies have focused on proteins involved in RNA regulation in the PND antigens Hu (nElavl) and Nova, the related protein FMRP (the protein mutated in fragile X mental retardation), Argonaute (which works with microRNAs to regulate messenger RNA translation and stability), and others, including Ptbp2, Mbln2, and Rbfox.

She uses induced pluripotent stem cells to study Fragile X syndrome, a common genetic cause of autism and intellectual disability.

Fragile X mental retardation protein (FMRP), linked to the most common inherited form of mental retardation, appears to orchestrate RNA traffic in neurons.

Goel discovered that there's a specific group of inhibitory cells in the brain malfunctioning in the Fragile X model.

Recent work in fragile X syndrome suggests aberrant fronto - striatal and fronto - parietal networks and relates these abnormalities «forward» to behavior and «backward» to decreased protein expression.As the field of neuroimaging has matured, it has revealed its promise as a safe, reliable, in - vivo tool in the study of developmental disorders.