Some are non-syndromic while in others, a syndromic phenotype is present. [latunisiemedicale.com]

• Movement Disorder

  In familial cases, MECP2 analysis might be considered in families compatible with Xlinked inheritance, where affected males have MR spasticity, movement disorder, or resting tremors, and the Xq28 region can not be excluded by linkage analysis. [latunisiemedicale.com]

• Macrocephaly

  SYN1: Garcia et al. (66) reported a novel X-linked recessive syndrome in 4-generation kindred in which some males of normal intelligence had epilepsy and others had various combinations of epilepsy, learning difficulties, macrocephaly, and aggressive [latunisiemedicale.com]

• Seizure

  Social behaviour becomes impaired, many girls develop seizures and anxiety, and the vast majority displays a continual, stereotypic handwringing movement (47). [latunisiemedicale.com]

• Dysarthria

  Characteristic dystonic movements of the hands were observed in 63% and dysarthria in 54% (44). A point mutation in ARX gene L33P was found in a Tunisian family linked to Xp21.3 (MRX54) in which males present only mental retardation (45). [latunisiemedicale.com]

In addition to pharmaceutical intervention, one should not forget the positive effects that can be obtained by conventional ‘treatment’, offering MR individuals a stimulating and activating environment. [latunisiemedicale.com]

The pathophysiological processes of MR in the human brain are very complex and, have most probably started already in early pregnancy. [latunisiemedicale.com]