Beckwith-Wiedemann syndrome is a congenital (present from birth) growth disorder that causes large body size, large organs, and other symptoms.
Most cases are associated with a defect inchromosome number 11.
Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate oftumor development. Wilm’s tumor and adrenal carcinoma are the most common tumor’s in patients with this syndrome.
- Abdominal wall defect: umbilical hernia or omphalocele
- Creases in ear lobes
- Enlargement of some organs and tissues
- External ear (pinna) abnormalities and low-set ears
- Large size for a newborn (large for gestational age)
- Large, prominent eyes
- Large tongue, sometimes protruding
- Low blood sugar (hypoglycemia)
- Mild microcephaly
- Poor feeding
- Separated abdominal muscles (diastasis recti)
- Undescended testicles (cryptorchidism)
Signs and tests
The signs of Beckwith-Wiedemann syndrome include:
- A ridge in the forehead caused by premature closure of the bones (metopic ridge)
- Enlarged fontanelle (soft spot)
- Enlarged kidneys, liver, and spleen
- Large size (90th percentile)
- Low blood sugar (hypoglycemia)
Tests for Beckwith-Wiedemann syndrome include:
Infants with low blood sugar may be treated fluids given through a vein ( intravenous solutions).
Defects in the abdominal wall may need to be repaired. The child must be watched closely for the development of tumors.
Children with Beckwith-Wiedemann syndrome who survive infancy do well, although no long-term follow-up information is available. Mental development appears to be normal to very slightly decreased. Swelling of the tongue can cause problems with feeding and sleeping.
- Development of tumors
- Feeding problems
- Respiratory difficulties from obstruction due to large tongue
- Sit the patient upright with the use of pillows or have them lean over the overbed table
- delivery oxygen
- use relaxation techniques and other appropriate nonpharmacological measures
- identify and treat the underlying cause of the dyspnea
- complement with phenothiazine (chlorpromazine, promethazine)
- complement with anxiolytic
- the rate of dose change.
- history of previous opioid exposure, or opioid tolerance
- and the route of administration with respect to amount and speed of absorption
Ferrel, B. R., & Coyle, N. (Eds.). (2010). Oxford textbook of palliative nursing (3rd ed.). New York: Oxford University Press. p. 307
- chest radiography
- pulmonary function tests
- arterial blood gases
- complete blood counts
- serum potassium, magnesium and phosphate levels
- cardiopulmonary excercise testing
- tests for any suspected underlying pathologies – echocardiogram for a suspected pericardial effusio
- disease stage
- risk : benefit ratios of any proposed test or interventions
- the desires of the patient and family
Directives for Human Experimentation
- The voluntary consent of the human subject is absolutely essential. This means that the person involved should have legal capacity to give consent; should be so situated as to be able to exercise free power of choice, without the intervention of any element of force, fraud, deceit, duress, over-reaching, or other ulterior form of constraint or coercion; and should have sufficient knowledge and comprehension of the elements of the subject matter involved as to enable him to make an understanding and enlightened decision. This latter element requires that before the acceptance of an affirmative decision by the experimental subject there should be made known to him the nature, duration, and purpose of the experiment; the method and means by which it is to be conducted; all inconveniences and hazards reasonable to be expected; and the effects upon his health or person which may possibly come from his participation in the experiment.
The duty and responsibility for ascertaining the quality of the consent rests upon each individual who initiates, directs or engages in the experiment. It is a personal duty and responsibility which may not be delegated to another with impunity.
- The experiment should be such as to yield fruitful results for the good of society, unprocurable by other methods or means of study, and not random and unnecessary in nature.
- The experiment should be so designed and based on the results of animal experimentation and a knowledge of the natural history of the disease or other problem under study that the anticipated results will justify the performance of the experiment.
- The experiment should be so conducted as to avoid all unnecessary physical and mental suffering and injury.
- No experiment should be conducted where there is an a priori reason to believe that death or disabling injury will occur; except, perhaps, in those experiments where the experimental physicians also serve as subjects.
- The degree of risk to be taken should never exceed that determined by the humanitarian importance of the problem to be solved by the experiment.
- Proper preparations should be made and adequate facilities provided to protect the experimental subject against even remote possibilities of injury, disability, or death.
- The experiment should be conducted only by scientifically qualified persons. The highest degree of skill and care should be required through all stages of the experiment of those who conduct or engage in the experiment.
- During the course of the experiment the human subject should be at liberty to bring the experiment to an end if he has reached the physical or mental state where continuation of the experiment seems to him to be impossible.
- During the course of the experiment the scientist in charge must be prepared to terminate the experiment at any stage, if he has probable cause to believe, in the exercise of the good faith, superior skill and careful judgment required of him that a continuation of the experiment is likely to result in injury, disability, or death to the experimental subject.
Reprinted from Trials of War Criminals before the Nuremberg Military Tribunals under Control Council Law No. 10, Vol. 2, pp. 181-182.. Washington, D.C.: U.S. Government Printing Office, 1949.
Include a complete history, including:
- onset – acute or chronic
- if it is affected by positioning
- its qualities
- associated symptoms
- precipitation and reliving events or activities
- underlying lung or cardiac disease
- concurrent medical conditions
- allergy history
- elicit details of previous medications or treatments
- dullness to percussion
- decreased tactile fremitus
- absent breath sounds associated with pleural effusion in an individual with lung cancer
- elevated jugular venous pressure
- audible third heart sound
- bilateral crackles audible on chest examination associated with CHF
- distant heart sounds
- pulsus paradoxus in individuals with pericardial effusions.
Aggressive treatments in the last few weeks of life increase difficult symptoms during dying, while a longer time in hospice care appears to reduce distress at the time of death for people with advanced cancer.
Research on coping with cancer has shown that the more time a patient spent under hospice care, the greater their quality of death – less physical distress.
Fears – Oneo f the greatest concerns of the dying patient and their family is the fear of loss of control.
Most losses are anticipated and experienced, such as loss of bodily functions, loss of independence and self-care and loss of income due to the resulting financial burdens, loss of the ability to provide for loved ones, loss or lack of time to complete tasks and mend relationships and loss of decision making capacity.
Patient and family centered care that optimizes quality of life by anticipating, preventing, and treating suffering. Palliative care throughout the continuum of illness involeves addressing physical, intellectual, emotional,, social, and spiritual needs and to facilitate patient autonomy, access to information, and choice.
– National Hospice and Palliative Care Organization.
The Hospice Approach
An approach that supports the long-term objective of creating personalized experience with each patient and family at the end of life, wit a particular focus on opportunities to find meaning, growth, and quality end of life and relationship experiences in the midst of difficult transitions.
Promoting quality of life and relationships, as well as death with dignity, hospice assists the patient and family to live each day as fully as possible for their remaining time together.