Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
SOURCE: Genetics Home Reference. 1p36 Deletion Syndrome
1p36 deletion syndrome facts
Introduction to the 1p36 deletion syndrome – how individuals get
chromosomes with missing DNA
1p36 deletion syndrome stands for the following: 1 is the chromosome
number that has deleted DNA, p is the short arm of the chromosome (shortest
length of DNA above the centromere) that contains designated area 36 that is
missing DNA
DNA missing from area 1p36 is responsible for the broad range of
symptoms such as changes in facial structures, severe learning disabilities,
severe oral communication problems, heart, muscle, breathing, eye and other
problems
Not all affected individuals develop all problems; the severity is likely related
to which areas and how much DNA is missing in 1p36
Treatment for 1p36 deletion syndrome is mainly aimed at reducing the severity of symptoms with
consultations with experts in the medical, surgical and behavior fields.
Each person with 1p36 deletion syndrome is an individual with problems
specifically related to their 1p36 DNA loss; with appropriate consultation
and effort on both the affected individual and their family or caregiver, a chance to develop
rewarding relationships should be available for many people
The genetic problem is so new that life expectancy and overall prognosis are
not yet well defined; there are reports that some individuals with 1p36 deletion
syndrome
live to adulthood.
What is and what causes 1p36 deletion syndrome?
As humans, we all should share 23 chromosomes from each parent, for a total
of 46. But what happens when some of the genetic material (genes made from DNA)
in the chromosomes is missing? The outcome depends on the functions that the
genetic material control. Unfortunately, in a relatively newly identified
problem, 1p36 deletion syndrome, (first deletion noted in 1981 and in 1997, the
clinical features first outlined), a small segment of missing DNA results in
large problems for individuals missing the DNA and for their families.
The name of the problem is 1p36 deletion syndrome. This numeric name means
that it affects chromosome # 1, the largest human chromosome. It precisely
affects the area on the #1 chromosome that is on a short arm of the chromosome
(p means the short arm above the centromere that joins the two parental copies
of chromosome 1, and area 36 is where the missing DNA should be located). In
recent years (about 2005-08), recent diagnostic tests known as
fluorescent in
situ hybridization (FISH) and microarray comparative genomic hybridization
(array CGH) have been developed to definitively diagnose the 1p36 deletion
syndrome. CGH may determine about how much DNA is missing.
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Dysphagia or difficulty in swallowing, swallowing problems. Dysphagia is due to problems in nerve or muscle control. It is common, for example, after a stroke. Dysphagia compromises nutrition and hydration and may lead to aspiration pneumonia and dehydration.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Seizures are divided into two categories: generalized and partial. Generalized seizures are produced by electrical impulses from throughout the brain, while partial seizures are produced by electrical impulses in a small part of the brain. Seizure symptoms include unconsciousness, convulsions, and muscle rigidity.
Good parenting helps foster empathy, honesty, self-reliance, self-control, kindness, cooperation, and cheerfulness, says Steinberg, a distinguished professor of psychology at Temple University in Philadelphia. It also promotes intellectual curiosity, motivation, and desire to achieve. It helps protect children from developing anxiety, depression, eating disorders, antisocial behavior, and alcohol and drug abuse.
There are six types of generalized seizures. The most common and dramatic, and therefore the most well known, is the generalized convulsion, also called the grand-mal seizure. In this type of seizure, the patient loses consciousness and usually collapses. The loss of consciousness is followed by generalized body stiffening (called the "tonic" phase of the seizure) for 30 to 60 seconds, then by violent jerking (the "clonic" phase) for 30 to 60 seconds, after which the patient goes into a deep sleep (the "postictal" or after-seizure phase). During grand-mal seizures, injuries and accidents may occur, such as tongue biting and urinary incontinence.
Absence seizures cause a short loss of consciousness (just a few seconds) with few or no symptoms. The patient, most often a child, typically interrupts an activity and stares blankly. These seizures begin and end abruptly and may occur several times a day. Patients are usu...
