X-LINKED MENTAL RETARDATION

X-LINKED MENTAL RETARDATION

Overview & Facts

X-linked mental retardation is a genetic condition that described by mild to moderate mental incapacity that affects only males. Affected males frequently have delayed development of motor skills like walking, and their speech development may be also be delayed.

People with X-linked mental retardation may likewise have an opening or cleft in the lip,  with an opening in the top of the mouth. A cleft may occur on one or the two sides of the upper lip.

Some males with this condition have unique facial features, including a long face, a sloped forehead, a broad nose, a noticeable bone ridge in the lower brow, and slanting outside corners of the eyes that point upward. They may also have low-set ears and large hands.

Types & Symptoms

TYPES

Coffin–Lowry syndrome

This disorder is a hereditary condition that is X-linked dominant and which causes serious mental problems, delayed growth, cardiovascular anomalies, kyphoscoliosis, and vision problems.

MASA syndrome

This is also called CRASH syndrome, Gareis-Mason disorder, L1 disorder, or spastic paraplegia. It is an uncommon X-linked recessive neurological disorder.

MECP2 Duplication Syndrome (M2DS)

This is an uncommon disorder that is described by extreme mental incapacity and impaired motor function. It is an X-linked hereditary disorder that is brought about by the overexpression of MeCP2 protein.

Alpha-thalassemia mental retardation syndrome (ATRX)

This is also called alpha-thalassemia X-linked mental retardation.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

This is an uncommon hereditary disease of newborn children described by mental incapacity and pontocerebellar hypoplasia.

SYMPTOMS

Signs of x-linked mental retardation may include the following:

  • Absence of speech
  • Microcephaly or small head
  • Hypotonia or muscle weakness
  • Seizures
  • Growth retardation along with mid-face malformations or hypoplasia and bone disorders

Diagnosis & Medications

DIAGNOSIS

Genetic testing is a test that detects changes in chromosomes, qualities, or proteins. The results of a genetic test can affirm or determine a presumed genetic condition or help decide an individual’s possibility of having or passing on a hereditary disorder. More than 1,000 genetic tests are presently being used, and more are being created.

A few techniques can be utilized for hereditary testing:

  • Molecular genetic tests
  • Chromosomal hereditary tests
  • Biochemical genetic tests

 

TREATMENT

Your child will most likely need psychological treatment to enable them to adapt to their incapacity.

If your child is prepared to go to class, a unique educational program may be set up to assist them with their educational needs.

The fundamental objective of treatment is to enable your child to achieve their maximum capacity as far as instruction, social abilities, and fundamental abilities. Treatment may include behavior treatment, speech-related treatment, counseling, and medicine.

 

 

 

 

 

 

 

 

 

 

 

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