Lesch Nyhan Syndrome

Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder that typically only impacts males, whereas females act as carriers. Research has found that approximately 1 in every 380,000 births is affected, and no ethnic groups or individuals in different geographic regions are known to be at greater risk. Individuals with LNS suffer from dystonia (including hypotonia and hypertonia), spasticity of movement, speech deficits, renal disease, gout, and mental retardation. Motor impairments are severe and often restrict an individual to use of a wheelchair with necessary physical supports. In addition, motor abilities impact the ability to produce intelligible speech and perform self-care tasks independently.

Perhaps one of the most distinguishing behaviors of LNS is that nearly all individuals with LNS demonstrate severe self-injurious/self-mutilating behaviors that can begin as early as 26 months of age. These behaviors escalate with age. The self-mutilation often begins with repeated biting of the lips, hands, and fingers. The severity of self-mutilation is such that permanent tissue loss often results (e.g., self-amputation of fingers or tongue).

Cognitive assessment of individuals with LNS is challenging due to their physical limitations and self-

injurious behaviors. Findings suggest that persons with LNS have varying degrees of cognitive impairments ranging from mild to severe, but it is widely held that cognitive skills may actually be higher than measured due to assessment limitations.

Understanding And Treating Autism

Understanding And Treating Autism

Whenever a doctor informs the parents that their child is suffering with Autism, the first & foremost question that is thrown over him is - How did it happen? How did my child get this disease? Well, there is no definite answer to what are the exact causes of Autism.

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