About x-linked mental retardation-clasped thum...

What is x-linked mental retardation-clasped thum...?

L1 syndrome is an inherited, X-linked disorder occurring in males that primarily affects the nervous system. The disease is mainly characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped towards the palm), aphasia (difficulty with speaking), seizures, and agenesis of the corpus callosum (underdeveloped or absent connecting tissue between the left and right hemispheres of the brain). Affected individuals have intellectual disability in the mild to moderate range. L1 syndrome is caused by abnormalities (mutations) in the L1CAM gene, which affects about 1 in 30,000 males.

The acronym CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus) syndrome was originally proposed in 1995 by Dr. Erik Fransen to describe L1 syndrome but is no longer used.



What are the symptoms for x-linked mental retardation-clasped thum...?

 Features of the syndrome include:

  1. neurologically: Mental retardation and aphasia (lack of speech);
  2. limbs: adducted (clasped) thumbs, absent extensor pollicis longus and/or brevis muscles to the thumb, shuffling gait, and leg spasticity;
  3. growth: small body size;
  4. skeleton: lumbar lordosis (sway back).



What are the causes for x-linked mental retardation-clasped thum...?

MASA is inherited as an X-linked trait and so affects mainly boys. Alternative names for MASA include clasped thumb and mental retardation, congenital clasped thumb with mental retardation, adducted thumb with mental retardation, and the Gareis- Mason syndrome.



What are the treatments for x-linked mental retardation-clasped thum...?

X-linked mental retardation-clasped thumbs is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.

1. There is no medical treatment for intellectual impairment since it is not a disease condition.
2. Treatment strategy involves rehabilitation of the child and making him acquire adaptive skills for everyday life. Special schools provide individualized education to these children, so that they are able to acquire knowledge at their own pace.
3. Apart from academic knowledge, special education also provides these children with the requisite skills so that they are able to adjust to society. Specific treatment measures like behavior therapy are used to reduce the socially unacceptable behavior of these children.
4. For example, children with intellectual impairment may have a very low attention span and thus may disrupt their surroundings. Therapy helps to reduce such behavior.
5. Integrated education is a common approach being applied in cases of intellectual impairment in recent times. In this approach, cognitively deficient children are taught with non-disabled children in normal classrooms, but some skills are imparted to them separately.
6. This helps to give these children the best of both worlds. Children with intellectual impairment are different from their peers in that they need more individual attention than other children.
However, they need as much love and support as other children do. With early intervention, most children are able to live efficient and satisfactory lives.

Symptoms
Mild to moderate intellectual disability that affects only males
Condition
Delayed development of motor skills such as walking,Speech may be delayed
Drugs
Symptomatic treatment and therapy



What are the risk factors for x-linked mental retardation-clasped thum...?

X-linked mental retardation-clasped thumbs is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.

1. While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. Only a few affected families have been described in the scientific literature.
2. X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the cells, particularly in brain cells before and just after birth.
3. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the activity (expression) of other genes.
4. Chromatin is the network of DNA and protein that packages DNA into chromosomes. Binding with the PHF8 protein is part of the process that changes the structure of chromatin (chromatin remodeling) to alter how tightly regions of DNA are packaged.
5. Chromatin remodeling is one-way gene expression is regulated; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.

Symptoms
Mild to moderate intellectual disability that affects only males
Condition
Delayed development of motor skills such as walking,Speech may be delayed
Drugs
Symptomatic treatment and therapy



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