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Autism

Termed as a neurodevelopment disorder, autism induces delayed group communication; language used in common communiqué or figurative and creative play. This condition usually sets in earlier than the age of 3 in any child. The condition may not be revealed physiologically but a thorough physical and neurological assessment will help identify the situation.


Autism in any child will be clearly exhibited from when the child is around 15 months of age, and will be clearer when the child is 3 years old. Parents who are worried about the disinterest shown by their child in all aspects must keep looking for the following symptoms:


  • Child refusing to show interest in cuddling the parent.
  • Child who does not develop speech even at 3 years of age.
  • Child who prefers to remain alone and aloof.
  • Child refuses or shows no interest in interacting with others. The child suffers a set back in non-verbal communication.
  • Child does not make eye contact.
  • Child makes odd expressions such as rocking and hand fluttering.
  • A child who speaks but speaks as though repeating a rhyme. Symptoms of echolalia (repeating a person’s word similar to an echo) are often noticed.
  • The child will react in an abnormal way to sensory stimulation.
  • Autism can either be mild or severe, with schooling children. Few children perform outstandingly and are highly independent though they have problems adjusting to the school atmosphere. Few other children with severe case of autism can be mentally retarded too.

Tuberous Sclerosis

This is a rare multi system genetic disease where benign tumors grow in the brain and other vital organs of the body such as kidneys, heart, eyes, lungs and skin. Tuberous Sclerosis is derived from the Latin word, tuber means swelling and the Greek Skleros means hard - a pathological finding of thick, firm and pale tubers in the patients. As these tubers were first described by Bourneville in 1880, it is sometimes known by the name Bourneville's disease.


Symptoms

A combination of symptoms including non-cancerous tumors or lesions in many parts of the body; in the brain, kidneys, heart, lungs and skin and also seizures, intellectual disability, developmental delay, skin abnormalities, lung and kidney disease.


Symptoms include

Skin abnormalities: Patches of light colored skin or small harmless areas of thickened skin or growth under or around the nails. Facial lesions resembling acne are common.

Seizures: due to lesions in the brain which can be the first symptoms of tuberous sclerosis. Infantile spasms in small children may occur.

Developmental delays: Intellectual disability and learning and developmental delays.

Behavior problems: Hyperactivity, raging outbursts, aggression, repetitive behaviors, social and emotional withdrawal.

Communication and social interaction problems: Children especially exhibit trouble with communication and social interaction and some may have autism spectrum disorder.

Kidney problems: develop lesions in kidneys which may damage kidney function.

Heart problems: Lesions may develop in the lungs and may cause coughing or shortness of breath, especially with physical activity or exercise.

Eye abnormalities: White patches develop on the light sensitive tissue at the back of the eye (retina). But these do not interfere with vision most of the times.


Causes

Tuberous sclerosis is caused by a mutation of either of two genes - TSC1 and TSC2 which code for proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation. The effect of these on the brain leads to neurological symptoms.

It is a rare genetic disease and is often detected during infancy or childhood. About one-third of the people with tuberous sclerosis inherit an altered TSC1 and TSC2 gene from a parent who has the disease. There is a 50% chance of passing the condition to the biological children although severity of the condition may vary. A parent with tuberous sclerosis may have a child with milder or severe form of the disorder.


Complications

Severe life-threatening complications can be caused depending upon where the tumors are developed and their size. Some complications that could develop are:

Lesions in the brain can block the flow of cerebral spinal fluid within the brain. This blockage can cause the buildup of fluid in the cavities, ventricles and within the brain leading to symptoms such as nausea, headaches and behavioral changes.

Lesions in the heart, especially in infants can block blood flow and cause problems in heart rhythm.

Lesions in the kidney can be large and life threatening - can cause bleeding or lead to kidney failure and sometimes become cancerous too.

Lesions in the lung can lead to lung failure. Lesions in the eye can interfere with vision.


Diagnosis

Patients are evaluated by different specialists including a geneticist, and those trained to treat problems of brain, heart, eyes, skin and kidneys. The doctors typically look for tumors who conduct tests to diagnose tuberous sclerosis. A child with seizures will undergo EEG as this can test the brain activity and help pinpoint what causes the child's seizures. Diagnostic testing to detect abnormal growths in kidneys and brain include MRI and CT and ECG to test electrical activity of the heart. In tuberous sclerosis, follow up monitoring is important and essential.


Treatment

Although there is no cure for tuberous sclerosis, treatment can help manage specific signs and symptoms. Education therapy can help children adapt to developmental delays and meet the classroom requirements. Medication may help manage behavioral problems. Everolimus is used to treat certain types of brain growths and kidney tumors that cannot be surgically removed. The topical ointment form of the drug called sirolimus can help treat acne-like skin lesions that can occur with tuberous sclerosis. Psychological therapy can help the child accept and adjust to living with this disorder. Physical therapy can improve his/her ability to handle daily tasks.


If the lesion affects the ability of a specific organ function, then surgery may be resorted to. Sometimes, surgery can control seizures caused by brain lesion in case medication fails. Dermabrasion or laser treatment may improve the appearance of skin lesions.


Family and support

Parents may consider genetic testing to confirm the diagnosis of tuberous sclerosis in their child, if the family history is not known. In case of a child diagnosed with tuberous sclerosis, there will be a number of challenges. It is essential to track the child closely with his/her peers in terms of academic, social and physical abilities. It is important to work closely with the child's doctor to establish an ongoing screening and monitoring schedule for health and developmental problems. Discovering and treating problems early will maximize the child's chances of a good outcome.

In case of early behavioral problems, it is essential to talk to the child's doctor and work with the child's school. Providing love and support is vital to help the child reach his/her full potential. It would also be helpful to connect with other families who are coping with tuberous sclerosis.



Asperger's disorder

Asperger's disorder is a developmental disorder associated with social and behavioral patterns. This disease was discovered in 1944 by an Austrian physician Dr.Hans Asperger. Asperger's disorder falls under pervasive developmental disorder category. The other types of disorders associated with these categories are autistic disorders. In many cases, Asperger's disorders are associated with characteristic features of eccentric behavior and minimized communication patterns with respect to social conditions.


Children affected by Asperger's syndrome often are found in isolation, as they exhibit insecurity among their peer groups. They often have a preoccupation with their areas of interest. These children have greater difficulty in socializing with others as they emphasize on their own interests without social involvement. The significant clinical symptoms of the Asperger's syndrome include:


  • Single sided interactions
  • Insecurity or inabilities to form friends or peer groups
  • Pedantic or repetitive speech in situations
  • Clumsiness and odd body posture
  • Decreased abilities in non-verbal communication patterns such as gestures.

The degree of facial expression in these children is much less and they appear astounded most of the times. The coordination and timing of the expressions are often irrelevant to circumstances or situations around them. The vocabulary pattern is well developed in children suffering with Asperger's syndrome; however these children lack the ability to communicate effectively. The clinical manifestations of Asperger's syndrome are associated with the intensity of the affected behavioral pattern pertaining to social relatedness, social skills and communication skills.

Epidemiological analysis of Asperger's disorder indicate that this disorder is more predominant than cases pertaining to autism. Asperger's syndrome is caused because of many underlying factors which are associated with the functionality of the brain, genetic influence and also a combination of genetic and environmental factors. Many children have impaired motor development in Asperger's disorder.

A classical indication of Asperger's syndrome among children is their idiosyncratic or obsessive behavior towards a certain object or group of objects. The conversations of these children are often based on repetitive adherence to these objects. The comprehension pattern is often misinterpretative to the context or situation. For example some people suffering this disorder may not be able to understand a joke easily. An interesting fact associated with Asperger's syndrome includes the career path of a person based on childhood obsession. Asperger's disorder is also associated with learning disability as it involves motor skills and communication skills.

Diagnosis of Asperger's syndrome is based on clinical symptoms. It is essential to diagnose the residual part of the disease in adults to avoid psychological complications. In many cases depression acts as a precursor for the onset of Asperger's syndrome. Asperger's syndrome in adults can be noticed in many scenarios such as mismanagement of time, poor interpretation skills and comprehension.

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Collection of Pages - Last revised Date: October 19, 2017