Global Developmental Delay Fragile X Syndrome
A possible cause is damage to the central nervous system from trauma fetal alcohol syndrome or other reasons. People who have FXS do not make the protein FMRP.
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Physical features may include a long and narrow face large ears flexible fingers and large testicles.
Global developmental delay fragile x syndrome. It is also the most common single gene cause of Autism Spectrum Disorder worldwide. This can be seen when a child does not meet his developmental milestones for their age. Fragile X syndrome FXS is a genetic disorder characterized by mild-to-moderate intellectual disability.
Fragile X syndrome is a genetic condition that can cause mild-to-severe intellectual and developmental disabilities that may inhibit a persons ability to live independently. The average IQ in males is under 55 while about two thirds of affected females are intellectually disabled. It is caused by a CGG trinucleotide repeat expansion in the FMR1 gene on the X chromosome.
Fragile X syndrome has been found in all major ethnic groups and races and is caused by an abnormality mutation in the FMR1 gene. Global developmental delay including speech language and communication difficulties intellectual disability and learning problems. Humans with FXS exhibit increased anxiety sensory hypersensitivity seizures repetitive behaviors cognitive inflexibility and social behavioral impairments.
Fragile X syndrome FXS is one of the most common causes of inherited intellectual disability. Any child with developmental delay of unknown etiology should be considered for fragile X syndrome testing. Fragile X syndrome FXS is the most common single gene cause of autism and intellectual disabilities.
It can also be caused by some metabolic disorders or by severe health problems that may occur with premature birth. Although there is no typical presentation some boys with Fragile X syndrome have a long narrow face prominent forehead and large testicles. Fragile X syndrome is the most common genetic cause of developmental delay and mental retardation and it is advised that children with global developmental delay and all boys with unexplained.
Chromosomal abnormalities such as Downs syndrome or fragile X syndrome can also cause global developmental delay. The syndrome became known as the fragile X syndrome because some individuals with the disorder were found to have a segment of their X. Rett Syndrome is the leading diagnosable cause of Global Developmental Delay while Fragile X is the most common inherited disorder.
Compiled by Julie Michlmayr The Inclusion Strategies Series provides practical simple and effective strategies that educators can implement as part of their day to day practice. A diagnosis of Fragile X syndrome may enable the child to receive services without an evaluation because FXS is a diagnosis that has been shown through research to be associated with developmental delays and disabilities. FMR1 is a gene located on the X chromosome that produces a protein called FMRP needed for proper cell function.
Fragile X Syndrome Fragile X Syndrome Posted 4-6-05 Key Points Fragile X syndrome is the most common single-gene cause of hereditary mental retardation. Fragile X syndrome often results from a full mutation of the FMR1 gene. In these people the FMR1 gene has been turned off.
The most significant effects of Fragile X syndrome are. Global developmental delay is described as a significant lag in functioning in one or more areas as compared to what is expected for a childs developmental progress that age. Developmental Milestones Check For Infants to Early Childhood.
Fragile X syndrome is. Fragile X Syndrome FXS is a genetic condition that causes intellectual disability behavioural and learning challenges and various physical characteristics.
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