Current Diseases Discussed 

The following diseases can have the same underlying genetic mutation that can be treated through similar targeted medicines. The descriptions below are for general informational purposes and are not intended to diagnose or indicate treatment.

 
 

ADHD

ADHD (attention deficit hyperactivity disorder) is the most prevalent childhood condition and the most common pediatric neurodevelopmental psychiatric disease.

Persons with ADHD have difficulty staying focused (on task) and paying attention. They are easily distracted, miss details, forget things and frequently switch from one activity to another. They often become bored with a task after only a few minutes. They have difficulty organizing and completing a task. They struggle to follow instructions. They often do not finish or turn in homework assignments. They cannot process information as quickly and accurately as other children.

ADHD children are constantly in motion. They fidget and move around in their seats. They cannot sit still at home, in restaurants or at school. They touch and play with everything, even in stores when they are told that they cannot touch the merchandise. ADHD patients cannot always control their behavior.

Children with ADHD are impulsive and impatient. They cannot wait their turn. They often interrupt conversations or games. They offer inappropriate comments, act without thinking and do not restrain their emotional responses.

ADHD patients frequently are very excitable. They will often be functioning at a sub-normal developmental level and frequently engage in negative social behavior.

It is common for children with ADHD to exhibit psychiatric conditions. This could include difficulty with learning, disruptive behavior, multiple intense mood swings, heightened anxiety, depression and inappropriate explosive outbursts.

 

Autism Spectrum Disorder

Autism is an umbrella term that refers to a spectrum of disorders (autism spectrum disorder, or ASD).  ASD is not a single disease.  It is a combination of varying degrees of symptoms.  Hence, patients are viewed as being located on a gradient of severity, being more or less disabled than the other persons who are diagnosed as being autistic. 

There are three sub-categories that can be outlined. One group of autistic children is classified as exhibiting childhood disintegrative disorder. These patients are generally diagnosed between two and ten years of age. They have difficulty in social interaction, communication and behavior.

A second sub-category would be Asperger syndrome (sometimes referred to as high-functioning autism). Similar to other ASD patients, children with Asperger syndrome have difficulty with social interaction and responsive behavior. They exhibit repetitive behavior. They have a limited range of interests. Their motor development may be delayed, but they do not exhibit the language difficulty that other ASD children demonstrate.

The third sub-category is a catchall characterization for all the other autism-positive patients and they are referred to as exhibiting pervasive developmental disorder (PDD). Issues included in this category would be problems with communication, both verbal and non-verbal. Other characteristics would be difficulty understanding and responding to humor, subtle jokes, sarcasm, innuendo; unwillingness or inability to take their turn or not waiting for their turn; repetition of words, phrases, or sounds; speaking at inappropriate times and not allowing others to respond; difficulty in remaining engaged in conversation; and a variety of behavioral issues.

 

22q (22Q11.2 DELETION SYNDROME)

One of the difficulties which 22q presents is the enormous variety of symptoms.  The disease can affect virtually every system of the human body.  There are approximately 180 symptoms of 22q.

The degree of severity of the ailments affecting 22q patients has a wide range. Some individuals may never realize that they have the disease; it can be that mild. They discover it only when they have a child with a more severe version of the malady.

The symptoms may be quite serious, such as congenital heart disease that requires surgical intervention soon after birth. Some of the symptoms are visible, such as a cleft palate. Difficulty in feeding, breathing problems and developmental delay can also be early signs of 22q.

There are five diseases that are associated with 22q: DiGeorge Syndrome; Velocardiofacial Syndrome (VCFS); Conotruncal Anomaly Face Syndrome (CTAF); Optiz G/BBB Syndrome and Caylor Cardiofacial Syndrome.